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Lymphedema

MedGen UID:
6155
Concept ID:
C0024236
Disease or Syndrome
Synonym: Lymphoedema
SNOMED CT: Lymphatic edema (234097001); Lymphedema (234097001); Lymphatic edema (30213001); Acquired lymphedema (30213001); Lymphedema (30213001)
 
HPO: HP:0001004
Monarch Initiative: MONDO:0019297

Definition

Localized fluid retention and tissue swelling caused by a compromised lymphatic system. [from HPO]

Conditions with this feature

Fabry disease
MedGen UID:
8083
Concept ID:
C0002986
Disease or Syndrome
Fabry disease is the most common of the lysosomal storage disorders and results from deficient activity of the enzyme alpha-galactosidase A (a-Gal A), leading to progressive lysosomal deposition of globotriaosylceramide and its derivatives in cells throughout the body. The classic form, occurring in males with less than 1% a-Gal A enzyme activity, usually has its onset in childhood or adolescence with periodic crises of severe pain in the extremities (acroparesthesia), the appearance of vascular cutaneous lesions (angiokeratomas), sweating abnormalities (anhidrosis, hypohidrosis, and rarely hyperhidrosis), characteristic corneal and lenticular opacities, and proteinuria. Gradual deterioration of renal function to end-stage renal disease (ESRD) usually occurs in men in the third to fifth decade. In middle age, most males successfully treated for ESRD develop cardiac and/or cerebrovascular disease, a major cause of morbidity and mortality. Heterozygous females typically have milder symptoms at a later age of onset than males. Rarely, females may be relatively asymptomatic throughout a normal life span or may have symptoms as severe as those observed in males with the classic phenotype. In contrast, late-onset forms occur in males with greater than 1% a-Gal A activity. Clinical manifestations include cardiac disease, which usually presents in the sixth to eighth decade with left ventricular hypertrophy, cardiomyopathy, arrhythmia, and proteinuria; renal failure, associated with ESRD but without the skin lesions or pain; or cerebrovascular disease presenting as stroke or transient ischemic attack.
Angioosteohypertrophic syndrome
MedGen UID:
9646
Concept ID:
C0022739
Disease or Syndrome
Klippel-Trenaunay syndrome is a condition that affects the development of blood vessels, soft tissues (such as skin and muscles), and bones. The disorder has three characteristic features: a red birthmark called a port-wine stain, abnormal overgrowth of soft tissues and bones, and vein malformations.\n\nMost people with Klippel-Trenaunay syndrome are born with a port-wine stain. This type of birthmark is caused by swelling of small blood vessels near the surface of the skin. Port-wine stains are typically flat and can vary from pale pink to deep maroon in color. In people with Klippel-Trenaunay syndrome, the port-wine stain usually covers part of one limb. The affected area may become lighter or darker with age. Occasionally, port-wine stains develop small red blisters that break open and bleed easily.\n\nKlippel-Trenaunay syndrome is also associated with overgrowth of bones and soft tissues beginning in infancy. Usually this abnormal growth is limited to one limb, most often one leg. However, overgrowth can also affect the arms or, rarely, the torso. The abnormal growth can cause pain, a feeling of heaviness, and reduced movement in the affected area. If the overgrowth causes one leg to be longer than the other, it can also lead to problems with walking.\n\nMalformations of veins are the third major feature of Klippel-Trenaunay syndrome. These abnormalities include varicose veins, which are swollen and twisted veins near the surface of the skin that often cause pain. Varicose veins usually occur on the sides of the upper legs and calves. Veins deep in the limbs can also be abnormal in people with Klippel-Trenaunay syndrome. Malformations of deep veins increase the risk of a type of blood clot called a deep vein thrombosis (DVT). If a DVT travels through the bloodstream and lodges in the lungs, it can cause a life-threatening blood clot known as a pulmonary embolism (PE).\n\nOther complications of Klippel-Trenaunay syndrome can include a type of skin infection called cellulitis, swelling caused by a buildup of fluid (lymphedema), and internal bleeding from abnormal blood vessels. Less commonly, this condition is also associated with fusion of certain fingers or toes (syndactyly) or the presence of extra digits (polydactyly).
Yellow nail syndrome
MedGen UID:
113164
Concept ID:
C0221348
Disease or Syndrome
Yellow nail syndrome (YNS) is classically considered to comprise a clinical triad of yellow nails, lymphedema, and respiratory tract involvement. Two of these symptoms are required for the diagnosis, since the complete triad is only observed in about one-third of patients. Onset is usually after puberty (Hoque et al., 2007).
Distichiasis-lymphedema syndrome
MedGen UID:
75566
Concept ID:
C0265345
Disease or Syndrome
Lymphedema-distichiasis syndrome (referred to as LDS in this GeneReview) is characterized by lower-limb lymphedema, and distichiasis (aberrant eyelashes ranging from a full set of extra eyelashes to a single hair). Lymphedema typically appears in late childhood or puberty, is confined to the lower limbs with or without involvement of the external genitalia, and is often asymmetric; severity varies within families. Males develop edema at an earlier age and have more problems with cellulitis than females. Distichiasis, which may be present at birth, is observed in 94% of affected individuals. About 75% of affected individuals have ocular findings including corneal irritation, recurrent conjunctivitis, and photophobia; other common findings include varicose veins and ptosis.
Cholestasis-edema syndrome, Norwegian type
MedGen UID:
78658
Concept ID:
C0268314
Disease or Syndrome
Cholestasis-lymphedema syndrome is a rare genetic disorder characterized by neonatal intrahepatic cholestasis, often lessening and becoming intermittent with age, and severe chronic lymphedema which mainly affects the lower limbs. Patients often present with fat malabsorption leading to failure to thrive, fat soluble vitamin deficiency with bleeding, rickets, and neuropathy. In 25% of cases, cirrhosis occurs during childhood or later in life.
Chronic infantile neurological, cutaneous and articular syndrome
MedGen UID:
98370
Concept ID:
C0409818
Disease or Syndrome
Chronic infantile neurologic cutaneous and articular syndrome (CINCA) is an early-onset, severe, chronic inflammatory disease, characterized by cutaneous symptoms, central nervous system involvement, and arthropathy (Feldmann et al., 2002). See also familial cold autoinflammatory syndrome-1 (FCAS1, CAPS1; 120100), an allelic disorder with a less severe phenotype.
Hypertrichotic osteochondrodysplasia Cantu type
MedGen UID:
208647
Concept ID:
C0795905
Disease or Syndrome
Cantú syndrome is characterized by congenital hypertrichosis; distinctive coarse facial features (including broad nasal bridge, wide mouth with full lips and macroglossia); enlarged heart with enhanced systolic function or pericardial effusion and in many, a large patent ductus arteriosus (PDA) requiring repair; and skeletal abnormalities (thickening of the calvaria, broad ribs, scoliosis, and flaring of the metaphyses). Other cardiovascular abnormalities may include dilated aortic root and ascending aorta with rare aortic aneurysm, tortuous vascularity involving brain and retinal vasculature, and pulmonary arteriovenous communications. Generalized edema (which may be present at birth) spontaneously resolves; peripheral edema of the lower extremities (and sometimes arms and hands) may develop at adolescence. Developmental delays are common, but intellect is typically normal; behavioral problems can include attention-deficit/hyperactivity disorder, autism spectrum disorder, obsessive-compulsive disorder, anxiety, and depression.
Norman-Roberts syndrome
MedGen UID:
163213
Concept ID:
C0796089
Disease or Syndrome
Lissencephaly ('smooth brain') is a severe disorder of brain development in which neuronal migration is impaired, leading to a thickened cerebral cortex in which the normally folded contour is simplified and smooth. Lissencephaly-2 (LIS2) is associated with severe abnormalities of the cerebellum and hippocampus (summary by Hong et al., 2000). For a general phenotypic description and a discussion of genetic heterogeneity of lissencephaly, see LIS1 (607432).
Microcephaly with or without chorioretinopathy, lymphedema, or intellectual disability
MedGen UID:
320559
Concept ID:
C1835265
Disease or Syndrome
Microcephaly with or without chorioretinopathy, lymphedema, or impaired intellectual development (MCLMR) is an autosomal dominant disorder that involves an overlapping but variable spectrum of central nervous system and ocular developmental anomalies. Microcephaly ranges from mild to severe and is often associated with mild to moderate developmental delay and a characteristic facial phenotype with upslanting palpebral fissures, broad nose with rounded tip, long philtrum with thin upper lip, prominent chin, and prominent ears. Chorioretinopathy is the most common eye abnormality, but retinal folds, microphthalmia, and myopic and hypermetropic astigmatism have also been reported, and some individuals have no overt ocular phenotype. Congenital lymphedema, when present, is typically confined to the dorsa of the feet, and lymphoscintigraphy reveals the absence of radioactive isotope uptake from the webspaces between the toes (summary by Ostergaard et al., 2012). Robitaille et al. (2014) found that MCLMR includes a broader spectrum of ocular disease, including retinal detachment with avascularity of the peripheral retina, and noted phenotypic overlap with familial exudative vitreoretinopathy (FEVR; see EVR1, 133780). Birtel et al. (2017) observed intrafamilial and intraindividual variability in retinal phenotype, and noted that syndromic manifestations in some patients are too subtle to be detected during a routine ophthalmologic evaluation. Variable expressivity and reduced penetrance have also been observed in some families (Jones et al., 2014; Li et al., 2016). Autosomal recessive forms of microcephaly with chorioretinopathy have been reported (see 251270). See also Mirhosseini-Holmes-Walton syndrome (autosomal recessive microcephaly with pigmentary retinopathy and impaired intellectual development; 268050), which has been mapped to chromosome 8q21.3-q22.1.
Lymphedema-cerebral arteriovenous anomaly syndrome
MedGen UID:
322617
Concept ID:
C1835272
Disease or Syndrome
Lymphedema-cerebral arteriovenous anomaly syndrome is characterised by the variable association of a cerebrovascular malformation, foot lymphoedema and primary pulmonary hypertension. It has been described in a woman and four of her children.
Alpha-N-acetylgalactosaminidase deficiency type 2
MedGen UID:
324539
Concept ID:
C1836522
Disease or Syndrome
Alpha-N-acetylgalactosaminidase (NAGA) deficiency is a very rare lysosomal storage disorder with atypical features. It is clinically heterogeneous with 3 main phenotypes: type I is an infantile-onset neuroaxonal dystrophy (609241); type II, also known as Kanzaki disease, is an adult-onset disorder characterized by angiokeratoma corporis diffusum and mild intellectual impairment; and type III is an intermediate disorder (see 609241) with mild to moderate neurologic manifestations (Desnick and Schindler, 2001).
Toriello-Lacassie-Droste syndrome
MedGen UID:
333068
Concept ID:
C1838329
Disease or Syndrome
Oculoectodermal syndrome (OES) is characterized by the association of epibulbar dermoids and aplasia cutis congenita. Affected individuals exhibit congenital scalp lesions which are atrophic, nonscarring, hairless regions that are often multiple and asymmetric in distribution, and may have associated hamartomas. Ectodermal changes include linear hyperpigmentation that may follow the lines of Blaschko and, rarely, epidermal nevus-like lesions. Epibulbar dermoids may be uni- or bilateral. Additional ocular anomalies such as skin tags of the upper eyelid and rarely optic nerve or retinal changes or microphthalmia can be present. Phenotypic expression is highly variable, and various other abnormalities have occasionally been reported, including growth failure, lymphedema, and cardiovascular defects, as well as neurodevelopmental symptoms such as developmental delay, epilepsy, learning difficulties, and behavioral abnormalities. Benign tumor-like lesions such as nonossifying fibromas of the long bones and giant cell granulomas of the jaws have repeatedly been observed and appear to be age-dependent, becoming a common manifestation in individuals aged 5 years or older (summary by Boppudi et al., 2016).
Ectodermal dysplasia and immunodeficiency 1
MedGen UID:
375787
Concept ID:
C1846008
Disease or Syndrome
Ectodermal dysplasia with immunodeficiency-1 (EDAID1) is an X-linked recessive disorder that characteristically affects only males. Affected individuals have onset of recurrent severe infections due to immunodeficiency in early infancy or in the first years of life. There is increased susceptibility to bacterial, pneumococcal, mycobacterial, and fungal infections. Laboratory studies usually show dysgammaglobulinemia with low IgG subsets and normal or increased IgA and IgM, consistent with impaired 'class-switching' of B cells, although immunologic abnormalities may be subtle compared to the clinical picture, and B- and T-cell numbers are usually normal. There is a poor antibody response to polysaccharide vaccinations, particularly pneumococcus; response to other vaccinations is variable. Patients also have features of ectodermal dysplasia, including conical incisors, hypo/anhidrosis, and thin skin or hair. Severely affected individuals may also show lymphedema, osteopetrosis, and, rarely, hematologic abnormalities. The phenotype is highly variable, likely due to different hypomorphic mutations, and may be fatal in childhood. Intravenous immunoglobulins and prophylactic antibiotics are used as treatment; some patients may benefit from bone marrow transplantation. Although only males tend to be affected with immunodeficiency, many patients inherit a mutation from a mother who has mild features of IP or conical teeth (summary by Doffinger et al., 2001, Orange et al., 2004, Roberts et al., 2010, Heller et al., 2020). Genetic Heterogeneity of Ectodermal Dysplasia and Immune Deficiency Also see EDAID2 (612132), caused by mutation in the NFKBIA gene (164008).
Multiple epiphyseal dysplasia, Al-Gazali type
MedGen UID:
335505
Concept ID:
C1846722
Disease or Syndrome
Al-Gazali-Bakalinova syndrome (AGBK) is characterized by multiple epiphyseal dysplasia, macrocephaly, and distinctive facial features including frontal bossing, hypertelorism, flat malar regions, low-set ears, and short neck. Other features include pectus excavatum, spindle-shaped fingers, clinodactyly, prominent joints, and genu valgum (summary by Ali et al., 2012).
Congenital pulmonary lymphangiectasia
MedGen UID:
340355
Concept ID:
C1849554
Congenital Abnormality
Pulmonary lymphangiectasia is a rare congenital vascular dysplasia characterized by an increased number of dilated pulmonary lymphatics in the subpleural, peribronchial, and interlobular septa. Respiratory distress is usually noted immediately after birth (summary by Stevenson et al., 2006).
Phelan-McDermid syndrome
MedGen UID:
339994
Concept ID:
C1853490
Disease or Syndrome
Phelan-McDermid syndrome is characterized by neonatal hypotonia, absent to severely delayed speech, developmental delay, and minor dysmorphic facial features. Most affected individuals have moderate to profound intellectual disability. Other features include large fleshy hands, dysplastic toenails, and decreased perspiration that results in a tendency to overheat. Normal stature and normal head size distinguishes Phelan-McDermid syndrome from other autosomal chromosome disorders. Behavior characteristics include mouthing or chewing non-food items, decreased perception of pain, and autism spectrum disorder or autistic-like affect and behavior.
Dahlberg-Borer-Newcomer syndrome
MedGen UID:
383693
Concept ID:
C1855477
Disease or Syndrome
A very rare ectodermal dysplasia syndrome, described in 2 adult brothers, characterized by the association of hypoparathyroidism, nephropathy, congenital lymphedema, mitral valve prolapse and brachytelephalangy. Additional features include mild facial dysmorphism, hypertrichosis and nail abnormalities.
Mullerian derivatives-lymphangiectasia-polydactyly syndrome
MedGen UID:
343489
Concept ID:
C1856159
Disease or Syndrome
A rare genetic disease characterized by the presence of Müllerian duct derivatives (rudimentary uterus, fallopian tubes, and atretic vagina) and other genital anomalies (cryptorchidism, micropenis) in male newborns, intestinal and pulmonary lymphangiectasia, protein-losing enteropathy, hepatomegaly, and renal anomalies. Postaxial polydactyly, facial dysmorphism (including broad nasal bridge, bulbous nasal tip, long and prominent upper lip with smooth philtrum, hypertrophic alveolar ridges, and mild retrognathia, among other features), and short limbs have also been described. The syndrome is fatal in infancy.
Dohle bodies and leukemia
MedGen UID:
346548
Concept ID:
C1857225
Neoplastic Process
Campomelia, Cumming type
MedGen UID:
347864
Concept ID:
C1859371
Disease or Syndrome
The association of limb defects and multivisceral anomalies. The syndrome has been reported in eight infants from four different families. Skeletal features include tetramelic campomelia and short long bones. Extraskeletal manifestations may include cervical lymphocele, generalised hydrops, polycystic kidneys, pancreas and liver, fibrotic liver or pancreas, polysplenia, heterotaxia, hypoplastic lung, short bowel. All newborns reported so far were either stillborn or died shortly after birth.
Lymphedema-atrial septal defects-facial changes syndrome
MedGen UID:
383042
Concept ID:
C2677167
Disease or Syndrome
This syndrome is characterized by congenital lymphedema of the lower limbs, atrial septal defect and a characteristic facies (a round face with a prominent forehead, a flat nasal bridge with a broad nasal tip, epicanthal folds, a thin upper lip and a cleft chin). It has been described in two brothers and a sister. Transmission appears to be autosomal recessive.
CLAPO syndrome
MedGen UID:
416522
Concept ID:
C2751313
Disease or Syndrome
PIK3CA-related overgrowth spectrum (PROS) encompasses a range of clinical findings in which the core features are congenital or early-childhood onset of segmental/focal overgrowth with or without cellular dysplasia. Prior to the identification of PIK3CA as the causative gene, PROS was separated into distinct clinical syndromes based on the tissues and/or organs involved (e.g., MCAP [megalencephaly-capillary malformation] syndrome and CLOVES [congenital lipomatous asymmetric overgrowth of the trunk, lymphatic, capillary, venous, and combined-type vascular malformations, epidermal nevi, skeletal and spinal anomalies] syndrome). The predominant areas of overgrowth include the brain, limbs (including fingers and toes), trunk (including abdomen and chest), and face, all usually in an asymmetric distribution. Generalized brain overgrowth may be accompanied by secondary overgrowth of specific brain structures resulting in ventriculomegaly, a markedly thick corpus callosum, and cerebellar tonsillar ectopia with crowding of the posterior fossa. Vascular malformations may include capillary, venous, and less frequently, arterial or mixed (capillary-lymphatic-venous or arteriovenous) malformations. Lymphatic malformations may be in various locations (internal and/or external) and can cause various clinical issues, including swelling, pain, and occasionally localized bleeding secondary to trauma. Lipomatous overgrowth may occur ipsilateral or contralateral to a vascular malformation, if present. The degree of intellectual disability appears to be mostly related to the presence and severity of seizures, cortical dysplasia (e.g., polymicrogyria), and hydrocephalus. Many children have feeding difficulties that are often multifactorial in nature. Endocrine issues affect a small number of individuals and most commonly include hypoglycemia (largely hypoinsulinemic hypoketotic hypoglycemia), hypothyroidism, and growth hormone deficiency.
CBL-related disorder
MedGen UID:
462153
Concept ID:
C3150803
Disease or Syndrome
Noonan syndrome-like disorder is a developmental disorder resembling Noonan syndrome (NS1; 163950) and characterized by facial dysmorphism, a wide spectrum of cardiac disease, reduced growth, variable cognitive deficits, and ectodermal and musculoskeletal anomalies. There is extensive phenotypic heterogeneity and variable expressivity (summary by Martinelli et al., 2010). Patients with heterozygous germline CBL mutations have an increased risk for certain malignancies, particularly juvenile myelomonocytic leukemia (JMML; 607785), as also seen in patients with Noonan syndrome (summary by Niemeyer et al., 2010).
Lymphedema-posterior choanal atresia syndrome
MedGen UID:
462225
Concept ID:
C3150875
Disease or Syndrome
A rare genetic disease characterized by choanal atresia and early onset of lymphedema of the lower extremities. Additional reported features include facial dysmorphism (hypertelorism, broad forehead, smooth philtrum, unilateral low-set ear and high-arched palate), hypoplastic nipples and pectus excavatum.
Ogden syndrome
MedGen UID:
477078
Concept ID:
C3275447
Disease or Syndrome
Ogden syndrome (OGDNS) is an X-linked neurodevelopmental disorder characterized by postnatal growth failure, severely delayed psychomotor development, variable dysmorphic features, and hypotonia. Many patients also have cardiac malformations or arrhythmias (summary by Popp et al., 2015).
Deafness-lymphedema-leukemia syndrome
MedGen UID:
481294
Concept ID:
C3279664
Disease or Syndrome
Primary lymphedema with myelodysplasia, also known as Emberger syndrome, is a rare disorder characterized by childhood-onset lymphedema of the lower limbs, with lymphoscintigraphy suggestive of lymphatic vessel hypoplasia, and genital lymphatic abnormalities. Myelodysplasia is usually with monosomy 7. Multiple warts, deafness, and minor anomalies (mild hypotelorism, neck webbing, and slender fingers) may also be present (summary by Mansour et al., 2010).
Hennekam lymphangiectasia-lymphedema syndrome 1
MedGen UID:
860487
Concept ID:
C4012050
Disease or Syndrome
Hennekam lymphangiectasia-lymphedema syndrome (HKLLS1) is an autosomal recessive disorder characterized by generalized lymphatic dysplasia affecting various organs, including the intestinal tract, pericardium, and limbs. Additional features of the disorder include facial dysmorphism and cognitive impairment (summary by Alders et al., 2014). Genetic Heterogeneity of Hennekam Lymphangiectasia-Lymphedema Syndrome See also HKLLS2 (616006), caused by mutation in the FAT4 gene (612411) on chromosome 4q28, and HKLLS3 (618154), caused by mutation in the ADAMTS3 gene (605011) on chromosome 4q13.
Hennekam lymphangiectasia-lymphedema syndrome 2
MedGen UID:
863376
Concept ID:
C4014939
Disease or Syndrome
Hennekam lymphangiectasia-lymphedema syndrome is an autosomal recessive disorder characterized by generalized lymphatic dysplasia affecting various organs, including the intestinal tract, pericardium, and limbs. Additional features of the disorder include facial dysmorphism and cognitive impairment (summary by Alders et al., 2014). For a discussion of genetic heterogeneity of Hennekam lymphangiectasia-lymphedema syndrome, see HKLLS1 (235510).
Lymphatic malformation 6
MedGen UID:
908120
Concept ID:
C4225184
Disease or Syndrome
Lymphatic malformation-6 is a form of generalized lymphatic dysplasia (GLD), which is characterized by a uniform, widespread lymphedema affecting all segments of the body, with systemic involvement such as intestinal and/or pulmonary lymphangiectasia, pleural effusions, chylothoraces and/or pericardial effusions. In LMPHM6, there is a high incidence of nonimmune hydrops fetalis (NIHF) with either death or complete resolution of the neonatal edema, but childhood onset of lymphedema with or without systemic involvement also occurs. Mild facial edema is often present. Patients have normal intelligence and no seizures (summary by Fotiou et al., 2015). For a discussion of genetic heterogeneity of lymphatic malformation, see 153100.
Macrothrombocytopenia-lymphedema-developmental delay-facial dysmorphism-camptodactyly syndrome
MedGen UID:
906646
Concept ID:
C4225222
Disease or Syndrome
Takenouchi-Kosaki syndrome is a highly heterogeneous autosomal dominant complex congenital developmental disorder affecting multiple organ systems. The core phenotype includes delayed psychomotor development with variable intellectual disability, dysmorphic facial features, and cardiac, genitourinary, and hematologic or lymphatic defects, including thrombocytopenia and lymphedema. Additional features may include abnormalities on brain imaging, skeletal anomalies, and recurrent infections. Some patients have a milder disease course reminiscent of Noonan syndrome (see, e.g., NS1, 163950) (summary by Martinelli et al., 2018).
Lissencephaly 7 with cerebellar hypoplasia
MedGen UID:
895680
Concept ID:
C4225359
Disease or Syndrome
Lissencephaly-7 with cerebellar hypoplasia (LIS7) is a severe neurodevelopmental disorder characterized by lack of psychomotor development, facial dysmorphism, arthrogryposis, and early-onset intractable seizures resulting in death in infancy (Magen et al., 2015). For a general description and a discussion of genetic heterogeneity of lissencephaly, see LIS1 (607432).
Spondylo-ocular syndrome
MedGen UID:
900371
Concept ID:
C4225412
Disease or Syndrome
Spondylo-ocular syndrome is a very rare association of spinal and ocular manifestations that is characterized by dense cataracts, and retinal detachment along with generalized osteoporosis and platyspondyly. Mild craniofacial dysphormism has been reported including short neck, large head and prominent eyebrows.
Lymphatic malformation 7
MedGen UID:
934596
Concept ID:
C4310629
Disease or Syndrome
LMPHM7 is an autosomal dominant disorder with variable expressivity. Some patients may develop severe nonimmune lymphatic-related hydrops fetalis (LRHF) in utero, resulting in early death, whereas others may have milder manifestations, such as atrial septal defect (ASD) or varicose veins as adults. The hydrops and/or swelling improves spontaneously in those who survive the neonatal period (summary by Martin-Almedina et al., 2016). For a discussion of genetic heterogeneity of lymphatic malformation, see 153100.
Hypotrichosis-lymphedema-telangiectasia-renal defect syndrome
MedGen UID:
1373459
Concept ID:
C4317151
Disease or Syndrome
Hypotrichosis-lymphedema-telangiectasia-renal defect syndrome is an autosomal dominant disorder characterized by these 4 features, which begin in early childhood and are progressive (summary by Moalem et al., 2015).
Noonan syndrome 1
MedGen UID:
1638960
Concept ID:
C4551602
Disease or Syndrome
Noonan syndrome (NS) is characterized by characteristic facies, short stature, congenital heart defect, and developmental delay of variable degree. Other findings can include broad or webbed neck, unusual chest shape with superior pectus carinatum and inferior pectus excavatum, cryptorchidism, varied coagulation defects, lymphatic dysplasias, and ocular abnormalities. Although birth length is usually normal, final adult height approaches the lower limit of normal. Congenital heart disease occurs in 50%-80% of individuals. Pulmonary valve stenosis, often with dysplasia, is the most common heart defect and is found in 20%-50% of individuals. Hypertrophic cardiomyopathy, found in 20%-30% of individuals, may be present at birth or develop in infancy or childhood. Other structural defects include atrial and ventricular septal defects, branch pulmonary artery stenosis, and tetralogy of Fallot. Up to one fourth of affected individuals have mild intellectual disability, and language impairments in general are more common in NS than in the general population.
Lymphatic malformation 2
MedGen UID:
1648459
Concept ID:
C4747568
Disease or Syndrome
Hereditary primary lymphedema is caused by anatomic or functional defects in the lymphatic system, resulting in chronic swelling of body parts. There may be accompanying nail and skin changes, such as nail dysplasia or papillomatosis. Onset is usually at birth or in early childhood but can occur later, and the severity is variable (summary by Gordon et al., 2013 and Balboa-Beltran et al., 2014). For a discussion of genetic heterogeneity of lymphatic malformation, see 153100.
Lymphatic malformation 3
MedGen UID:
1652857
Concept ID:
C4747646
Disease or Syndrome
Hereditary primary lymphedema is caused by anatomic or functional defects in the lymphatic system, resulting in chronic swelling of body parts. There may be accompanying nail and skin changes, such as nail dysplasia or papillomatosis. Onset is usually at birth or in early childhood but can occur later, and the severity is variable (summary by Gordon et al., 2013 and Balboa-Beltran et al., 2014). For a discussion of genetic heterogeneity of lymphatic malformation, see 153100.
Lymphatic malformation 4
MedGen UID:
1651756
Concept ID:
C4747769
Disease or Syndrome
Any hereditary lymphedema in which the cause of the disease is a mutation in the VEGFC gene.
Hennekam lymphangiectasia-lymphedema syndrome 3
MedGen UID:
1648368
Concept ID:
C4748408
Disease or Syndrome
Hennekam lymphangiectasia-lymphedema syndrome-3 (HKKLLS3) is characterized by widespread congenital edema that is more severe in more dependent areas of the body. Associated features include facial dysmorphism and protein-losing enteropathy of variable severity (Brouillard et al., 2017). For a discussion of genetic heterogeneity of Hennekam lymphangiectasia-lymphedema syndrome, see HKLLS1 (235510).
Noonan syndrome 13
MedGen UID:
1761918
Concept ID:
C5436773
Disease or Syndrome
Noonan syndrome (NS) is characterized by characteristic facies, short stature, congenital heart defect, and developmental delay of variable degree. Other findings can include broad or webbed neck, unusual chest shape with superior pectus carinatum and inferior pectus excavatum, cryptorchidism, varied coagulation defects, lymphatic dysplasias, and ocular abnormalities. Although birth length is usually normal, final adult height approaches the lower limit of normal. Congenital heart disease occurs in 50%-80% of individuals. Pulmonary valve stenosis, often with dysplasia, is the most common heart defect and is found in 20%-50% of individuals. Hypertrophic cardiomyopathy, found in 20%-30% of individuals, may be present at birth or develop in infancy or childhood. Other structural defects include atrial and ventricular septal defects, branch pulmonary artery stenosis, and tetralogy of Fallot. Up to one fourth of affected individuals have mild intellectual disability, and language impairments in general are more common in NS than in the general population.
Lymphatic malformation 10
MedGen UID:
1780452
Concept ID:
C5543531
Disease or Syndrome
Lymphatic malformation-10 (LMPHM10) is an autosomal dominant disorder characterized by onset of lymphedema within the first year of life. Lymphedema primarily involves the lower extremities but may also occur in the neck, upper extremities, and scrotum or labia majora. Gradual resorption generally occurs, although some patients may experience progression complicated by cellulitis (Leppanen et al., 2020). For a discussion of genetic heterogeneity of lymphatic malformation, see 153100.
Lymphatic malformation 11
MedGen UID:
1784862
Concept ID:
C5543614
Disease or Syndrome
Lymphatic malformation-11 (LMPHM11) is characterized by lower extremity edema, with onset in the second or third decade of life. Some affected individuals may have subclinical lymphatic malformations (Michelini et al., 2020). For a discussion of genetic heterogeneity of lymphatic malformation, see LMPHM1 (153100).
Lymphatic malformation 12
MedGen UID:
1823976
Concept ID:
C5774203
Disease or Syndrome
Lymphatic malformation-12 (LMPHM12) is characterized by abnormalities in the development and function of major truncal lymphatic vessels, causing nonimmune hydrops fetalis that results in stillbirth in some cases. Other affected individuals experience postnatal subcutaneous lymphedema and chylothorax, with pleural and pericardial effusions and ascites (Byrne et al., 2022). For a general phenotypic description and discussion of genetic heterogeneity of lymphatic malformation, see LMPHM1 (153100).
Lymphatic malformation 13
MedGen UID:
1840915
Concept ID:
C5830279
Disease or Syndrome
Lymphatic malformation-13 (LMPHM13) is characterized by the presence of nonimmune hydrops fetalis which often resolves with age. Capillary or cavernous hemangiomas are present in most patients, as are cardiac defects, often mild (Abdelrahman et al., 2018). For a discussion of genetic heterogeneity of lymphatic malformation, see 153100.
Lymphatic malformation 14
MedGen UID:
1851480
Concept ID:
C5882718
Congenital Abnormality
Lymphatic malformation-14 (LMPHM14) is an autosomal dominant disorder characterized by primary lymphedema (Greene et al., 2023). For a general phenotypic description and discussion of genetic heterogeneity of lymphatic malformation, see LMPHM1 (153100).

Professional guidelines

PubMed

Forner-Cordero I, Forner-Cordero A, Szolnoky G
Int Angiol 2021 Aug;40(4):345-357. Epub 2021 Apr 19 doi: 10.23736/S0392-9590.21.04604-6. PMID: 33870676
Greenlee H, DuPont-Reyes MJ, Balneaves LG, Carlson LE, Cohen MR, Deng G, Johnson JA, Mumber M, Seely D, Zick SM, Boyce LM, Tripathy D
CA Cancer J Clin 2017 May 6;67(3):194-232. Epub 2017 Apr 24 doi: 10.3322/caac.21397. PMID: 28436999Free PMC Article
Trayes KP, Studdiford JS, Pickle S, Tully AS
Am Fam Physician 2013 Jul 15;88(2):102-10. PMID: 23939641

Recent clinical studies

Etiology

Senger JB, Kadle RL, Skoracki RJ
Medicina (Kaunas) 2023 May 6;59(5) doi: 10.3390/medicina59050894. PMID: 37241126Free PMC Article
Sudduth CL, Greene AK
Cold Spring Harb Perspect Med 2022 May 27;12(5) doi: 10.1101/cshperspect.a041176. PMID: 35074795Free PMC Article
Thompson B, Gaitatzis K, Janse de Jonge X, Blackwell R, Koelmeyer LA
J Cancer Surviv 2021 Apr;15(2):244-258. Epub 2020 Aug 15 doi: 10.1007/s11764-020-00928-1. PMID: 32803533
Dessources K, Aviki E, Leitao MM Jr
Int J Gynecol Cancer 2020 Feb;30(2):252-260. Epub 2020 Jan 7 doi: 10.1136/ijgc-2019-001032. PMID: 31915136Free PMC Article
Singh B, Disipio T, Peake J, Hayes SC
Arch Phys Med Rehabil 2016 Feb;97(2):302-315.e13. Epub 2015 Oct 9 doi: 10.1016/j.apmr.2015.09.012. PMID: 26440777

Diagnosis

Senger JB, Kadle RL, Skoracki RJ
Medicina (Kaunas) 2023 May 6;59(5) doi: 10.3390/medicina59050894. PMID: 37241126Free PMC Article
Kalemikerakis I, Evaggelakou A, Kavga A, Vastardi M, Konstantinidis T, Govina O
J BUON 2021 Sep-Oct;26(5):1735-1741. PMID: 34761576
Davies C, Levenhagen K, Ryans K, Perdomo M, Gilchrist L
Phys Ther 2020 Jul 19;100(7):1163-1179. doi: 10.1093/ptj/pzaa087. PMID: 32589208Free PMC Article
Rockson SG
N Engl J Med 2018 Nov 15;379(20):1937-1944. doi: 10.1056/NEJMcp1803290. PMID: 30428297
Bernas M, Thiadens SRJ, Smoot B, Armer JM, Stewart P, Granzow J
Clin Exp Metastasis 2018 Aug;35(5-6):547-551. Epub 2018 May 17 doi: 10.1007/s10585-018-9899-5. PMID: 29774452

Therapy

Muñoz-Alcaraz MN, Pérula-de-Torres LÁ, Serrano-Merino J, Jiménez-Vílchez AJ, Olmo-Carmona MV, Muñoz-García MT, Bartolomé-Moreno C, Oliván-Blázquez B, Magallón-Botaya R
BMC Cancer 2020 Nov 9;20(1):1074. doi: 10.1186/s12885-020-07558-x. PMID: 33167921Free PMC Article
Hasenoehrl T, Palma S, Ramazanova D, Kölbl H, Dorner TE, Keilani M, Crevenna R
Support Care Cancer 2020 Aug;28(8):3593-3603. Epub 2020 May 15 doi: 10.1007/s00520-020-05521-x. PMID: 32415386Free PMC Article
Soriano-Maldonado A, Carrera-Ruiz Á, Díez-Fernández DM, Esteban-Simón A, Maldonado-Quesada M, Moreno-Poza N, García-Martínez MDM, Alcaraz-García C, Vázquez-Sousa R, Moreno-Martos H, Toro-de-Federico A, Hachem-Salas N, Artés-Rodríguez E, Rodríguez-Pérez MA, Casimiro-Andújar AJ
Medicine (Baltimore) 2019 Nov;98(44):e17625. doi: 10.1097/MD.0000000000017625. PMID: 31689771Free PMC Article
Maindet C, Burnod A, Minello C, George B, Allano G, Lemaire A
Support Care Cancer 2019 Aug;27(8):3119-3132. Epub 2019 May 11 doi: 10.1007/s00520-019-04829-7. PMID: 31076901
Ezzo J, Manheimer E, McNeely ML, Howell DM, Weiss R, Johansson KI, Bao T, Bily L, Tuppo CM, Williams AF, Karadibak D
Cochrane Database Syst Rev 2015 May 21;2015(5):CD003475. doi: 10.1002/14651858.CD003475.pub2. PMID: 25994425Free PMC Article

Prognosis

Coriddi M, Dayan J, Bloomfield E, McGrath L, Diwan R, Monge J, Gutierrez J, Brown S, Boe L, Mehrara B
Ann Surg 2023 Oct 1;278(4):630-637. Epub 2023 Jun 14 doi: 10.1097/SLA.0000000000005952. PMID: 37314177Free PMC Article
Lin Y, Wu C, He C, Yan J, Chen Y, Gao L, Liu R, Cao B
Support Care Cancer 2022 Dec 13;31(1):9. doi: 10.1007/s00520-022-07494-5. PMID: 36512157
Keast DH, Despatis M, Allen JO, Brassard A
Int Wound J 2015 Jun;12(3):328-33. Epub 2014 Feb 12 doi: 10.1111/iwj.12224. PMID: 24618210Free PMC Article
DiSipio T, Rye S, Newman B, Hayes S
Lancet Oncol 2013 May;14(6):500-15. Epub 2013 Mar 27 doi: 10.1016/S1470-2045(13)70076-7. PMID: 23540561
Scheinfeld NS
Clin Dermatol 2004 Jul-Aug;22(4):303-9. doi: 10.1016/j.clindermatol.2004.01.001. PMID: 15475230

Clinical prediction guides

Wang X, Lai Q, Tian Y, Zou L
Medicine (Baltimore) 2020 Mar;99(11):e19183. doi: 10.1097/MD.0000000000019183. PMID: 32176044Free PMC Article
Tantawy SA, Abdelbasset WK, Nambi G, Kamel DM
Integr Cancer Ther 2019 Jan-Dec;18:1534735419847276. doi: 10.1177/1534735419847276. PMID: 31068019Free PMC Article
Kasawara KT, Mapa JMR, Ferreira V, Added MAN, Shiwa SR, Carvas N Jr, Batista PA
Physiother Theory Pract 2018 May;34(5):337-345. Epub 2018 Jan 8 doi: 10.1080/09593985.2017.1419522. PMID: 29308967
Rockson SG
Vasc Med 2016 Feb;21(1):77-81. doi: 10.1177/1358863X15620852. PMID: 26819350
Cho Y, Do J, Jung S, Kwon O, Jeon JY
Support Care Cancer 2016 May;24(5):2047-2057. Epub 2015 Nov 5 doi: 10.1007/s00520-015-3005-1. PMID: 26542271

Recent systematic reviews

Thompson B, Gaitatzis K, Janse de Jonge X, Blackwell R, Koelmeyer LA
J Cancer Surviv 2021 Apr;15(2):244-258. Epub 2020 Aug 15 doi: 10.1007/s11764-020-00928-1. PMID: 32803533
Hasenoehrl T, Palma S, Ramazanova D, Kölbl H, Dorner TE, Keilani M, Crevenna R
Support Care Cancer 2020 Aug;28(8):3593-3603. Epub 2020 May 15 doi: 10.1007/s00520-020-05521-x. PMID: 32415386Free PMC Article
Greenlee H, DuPont-Reyes MJ, Balneaves LG, Carlson LE, Cohen MR, Deng G, Johnson JA, Mumber M, Seely D, Zick SM, Boyce LM, Tripathy D
CA Cancer J Clin 2017 May 6;67(3):194-232. Epub 2017 Apr 24 doi: 10.3322/caac.21397. PMID: 28436999Free PMC Article
Cohen EE, LaMonte SJ, Erb NL, Beckman KL, Sadeghi N, Hutcheson KA, Stubblefield MD, Abbott DM, Fisher PS, Stein KD, Lyman GH, Pratt-Chapman ML
CA Cancer J Clin 2016 May;66(3):203-39. Epub 2016 Mar 22 doi: 10.3322/caac.21343. PMID: 27002678
Ezzo J, Manheimer E, McNeely ML, Howell DM, Weiss R, Johansson KI, Bao T, Bily L, Tuppo CM, Williams AF, Karadibak D
Cochrane Database Syst Rev 2015 May 21;2015(5):CD003475. doi: 10.1002/14651858.CD003475.pub2. PMID: 25994425Free PMC Article

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