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Angioosteohypertrophic syndrome(KTS)

MedGen UID:
9646
•Concept ID:
C0022739
•
Disease or Syndrome
Synonyms: Angio-osteohypertrophy syndrome; Klippel Trenaunay syndrome; Klippel-Trenaunay-Weber Syndrome; KTS; KTW syndrome; Weber Klippel Trenaunay
SNOMED CT: Angio-osteohypertrophic syndrome (723991007); Angioosteohypertrophic syndrome (723991007)
Modes of inheritance:
Autosomal dominant inheritance
MedGen UID:
141047
•Concept ID:
C0443147
•
Intellectual Product
Source: Orphanet
A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in heterozygotes. In the context of medical genetics, an autosomal dominant disorder is caused when a single copy of the mutant allele is present. Males and females are affected equally, and can both transmit the disorder with a risk of 50% for each child of inheriting the mutant allele.
Not genetically inherited
MedGen UID:
988794
•Concept ID:
CN307044
•
Finding
Source: Orphanet
clinical entity without genetic inheritance.
See: This record
Autosomal dominant inheritance (Orphanet)
Not genetically inherited (Orphanet)
 
Monarch Initiative: MONDO:0007864
OMIM®: 149000
Orphanet: ORPHA2346

Definition

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.

Most 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.

Klippel-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.

Malformations 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).

Other 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). [from MedlinePlus Genetics]

Clinical features

From HPO
Hemangioma
MedGen UID:
5477
•Concept ID:
C0018916
•
Neoplastic Process
A hemangioma is a benign tumor characterized by blood-filled spaces lined by benign endothelial cells. A hemangioma characterized by large endothelial spaces (caverns) is called a cavernous hemangioma (in contrast to a hemangioma with small endothelial spaces, which is called capillary hemangioma).
See: Feature record | Search on this feature
Syndactyly
MedGen UID:
52619
•Concept ID:
C0039075
•
Congenital Abnormality
Webbing or fusion of the fingers or toes, involving soft parts only or including bone structure. Bony fusions are referred to as "bony" syndactyly if the fusion occurs in a radio-ulnar axis. Fusions of bones of the fingers or toes in a proximo-distal axis are referred to as "symphalangism".
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Hand polydactyly
MedGen UID:
510636
•Concept ID:
C0158733
•
Congenital Abnormality
A kind of polydactyly characterized by the presence of a supernumerary finger or fingers.
See: Feature record | Search on this feature
Congenital macrodactylia
MedGen UID:
78564
•Concept ID:
C0265552
•
Congenital Abnormality
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.
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Finger aplasia
MedGen UID:
1841564
•Concept ID:
C5779506
•
Congenital Abnormality
A developmental defect resulting in the presence of fewer than the normal number of fingers (i.e., aplasia of one or more fingers).
See: Feature record | Search on this feature
Arteriovenous fistula
MedGen UID:
2041
•Concept ID:
C0003855
•
Anatomical Abnormality
An abnormal connection between an artery and vein.
See: Feature record | Search on this feature
Hemihypertrophy
MedGen UID:
90701
•Concept ID:
C0332890
•
Congenital Abnormality
Overgrowth of only one side of the body.
See: Feature record | Search on this feature
Seizure
MedGen UID:
20693
•Concept ID:
C0036572
•
Sign or Symptom
A seizure is an intermittent abnormality of nervous system physiology characterized by a transient occurrence of signs and/or symptoms due to abnormal excessive or synchronous neuronal activity in the brain.
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Intellectual disability
MedGen UID:
811461
•Concept ID:
C3714756
•
Mental or Behavioral Dysfunction
Intellectual disability, previously referred to as mental retardation, is characterized by subnormal intellectual functioning that occurs during the developmental period. It is defined by an IQ score below 70.
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Abnormality of blood and blood-forming tissues
MedGen UID:
163092
•Concept ID:
C0850715
•
Finding
An abnormality of the hematopoietic system.
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Lymphangioma
MedGen UID:
6153
•Concept ID:
C0024221
•
Neoplastic Process
Lymphangiomas are rare congenital malformations consisting of focal proliferations of well-differentiated lymphatic tissue in multi cystic or sponge like structures. Lymphangioma is usually asymptomatic due to its soft consistency but compression of adjacent structures can be seen due to the mass effect of a large tumor.
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Lymphedema
MedGen UID:
6155
•Concept ID:
C0024236
•
Disease or Syndrome
Localized fluid retention and tissue swelling caused by a compromised lymphatic system.
See: Feature record | Search on this feature
Hyperpigmented nevi and streak
MedGen UID:
812022
•Concept ID:
C3805692
•
Finding
See: Feature record | Search on this feature
Glaucoma
MedGen UID:
42224
•Concept ID:
C0017601
•
Disease or Syndrome
Glaucoma refers loss of retinal ganglion cells in a characteristic pattern of optic neuropathy usually associated with increased intraocular pressure.
See: Feature record | Search on this feature
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Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVAngioosteohypertrophic syndrome
Follow this link to review classifications for Angioosteohypertrophic syndrome in Orphanet.

Professional guidelines

PubMed

Evaluation and management of the lateral marginal vein in Klippel-Trénaunay and other PIK3CA-related overgrowth syndromes.
Fereydooni A, Nassiri N
J Vasc Surg Venous Lymphat Disord 2020 May;8(3):482-493. Epub 2020 Feb 20 doi: 10.1016/j.jvsv.2019.12.003. PMID: 32089498
Diagnosis and management of the venous malformations of Klippel-Trénaunay syndrome.
Wang SK, Drucker NA, Gupta AK, Marshalleck FE, Dalsing MC
J Vasc Surg Venous Lymphat Disord 2017 Jul;5(4):587-595. doi: 10.1016/j.jvsv.2016.10.084. PMID: 28624001
Parkes Weber syndrome-Diagnostic and management paradigms: A systematic review.
Banzic I, Brankovic M, Maksimović Ž, Davidović L, Marković M, Rančić Z
Phlebology 2017 Jul;32(6):371-383. Epub 2016 Aug 9 doi: 10.1177/0268355516664212. PMID: 27511883

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