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Prominent nasolabial fold

MedGen UID:
355725
Concept ID:
C1866487
Finding
Synonyms: Deep nasolabial folds; Prominent nasolabial folds
 
HPO: HP:0005272

Definition

Exaggerated bulkiness of the crease or fold of skin running from the lateral margin of the nose, where nasal base meets the skin of the face, to a point just lateral to the corner of the mouth (cheilion, or commissure). [from HPO]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVProminent nasolabial fold

Conditions with this feature

Neurofibromatosis-Noonan syndrome
MedGen UID:
419089
Concept ID:
C2931482
Disease or Syndrome
A variant of neurofibromatosis type 1 characterized by the combination of features of neurofibromatosis type 1, such as café-au-lait spots, iris Lisch nodules, axillary and inguinal freckling, optic nerve glioma and multiple neurofibromas; and Noonan syndrome, with features such as short stature, typical facial features, congenital heart defects and unusual pectus deformity.
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).
Congenital contractures of the limbs and face, hypotonia, and developmental delay
MedGen UID:
907234
Concept ID:
C4225398
Disease or Syndrome
CLIFAHDD is a congenital disorder characterized by congenital contractures of the limbs and face, resulting in characteristic facial features, hypotonia, and variable degrees of developmental delay. All reported cases have occurred de novo (summary by Chong et al., 2015).
Distal arthrogryposis type 2B1
MedGen UID:
1676961
Concept ID:
C5193014
Disease or Syndrome
Distal arthrogryposis is a clinically and genetically heterogeneous disorder characterized by clenched fist, overlapping fingers, camptodactyly, ulnar deviation, and positional foot deformities from birth. It is a disorder of primary limb malformation without primary neurologic or muscle disease. DA1 is not associated with other abnormalities, whereas other forms of DA have additional phenotypic features (Bamshad et al., 1996). The congenital contractures in DA2B (Sheldon-Hall syndrome, SHS) are similar to those observed in DA1, but affected individuals tend to have more prominent nasolabial folds, downslanting palpebral fissures, and a small mouth. DA2B is thought to be the most common of the distal arthrogryposis disorders (summary by Bamshad et al., 2009). For a general phenotypic description and a discussion of genetic heterogeneity of distal arthrogryposis, see DA1 (108120).
Myopathy, congenital, with tremor
MedGen UID:
1684886
Concept ID:
C5231401
Disease or Syndrome
Congenital myopathy-16 (CMYO16) is an autosomal dominant muscle disorder characterized by onset of hypotonia and tremor in infancy. Patients have mildly delayed walking, unsteady gait, proximal muscle weakness, and a high-frequency tremor of the limbs. Some may develop secondary mild contractures or spinal deformities. Cognition is normal and the disease course tends to stabilize after adolescence (summary by Stavusis et al., 2019). For a discussion of genetic heterogeneity of congenital myopathy, see CMYO1A (117000).
Arthrogryposis multiplex congenita 5
MedGen UID:
1731112
Concept ID:
C5436453
Disease or Syndrome
Arthrogryposis multiplex congenita-5 (AMC5) is an autosomal recessive disorder characterized by severe joint contractures apparent at birth. Affected individuals usually have hypertonia and abnormal movements suggestive of dystonia, as well as feeding and/or breathing difficulties. More variable features may include poor overall growth, strabismus, dysmorphic facies, and global developmental delay with impaired speech (summary by Kariminejad et al., 2017).
Cutis laxa, autosomal recessive, type 2E
MedGen UID:
1794154
Concept ID:
C5561944
Disease or Syndrome
Autosomal recessive cutis laxa type IIE (ARCL2E) is characterized by connective tissue features, including generalized cutis laxa and inguinal hernia, craniofacial dysmorphology, variable mild heart defects, and prominent skeletal features, including craniosynostosis, short stature, brachydactyly, clinodactyly, and syndactyly (Pottie et al., 2021). For a general phenotypic description and discussion of genetic heterogeneity of autosomal recessive cutis laxa, see ARCL1A (219100).
Neurodevelopmental disorder with hypotonia and dysmorphic facies
MedGen UID:
1794184
Concept ID:
C5561974
Disease or Syndrome
Neurodevelopmental disorder with hypotonia and dysmorphic facies (NEDHYDF) is characterized by global developmental delay and hypotonia apparent from birth. Affected individuals have variably impaired intellectual development, often with speech delay and delayed walking. Seizures are generally not observed, although some patients may have single seizures or late-onset epilepsy. Most patients have prominent dysmorphic facial features. Additional features may include congenital cardiac defects (without arrhythmia), nonspecific renal anomalies, joint contractures or joint hyperextensibility, dry skin, and cryptorchidism. There is significant phenotypic variability in both the neurologic and extraneurologic manifestations (summary by Tan et al., 2022).
Noonan syndrome 14
MedGen UID:
1807988
Concept ID:
C5676916
Disease or Syndrome
Noonan syndrome-14 (NS14) is a recessive developmental disorder within the RASopathy clinical spectrum. Patients exhibit developmental delay, impaired intellectual development, and short stature, as well as distinctive dysmorphic features including bitemporal narrowing, hypertelorism, low-set posteriorly rotated ears, prominent nasal bridge, low posterior hairline with a short webbed neck, and pectus excavatum (Motta et al., 2021). For a general phenotypic description and discussion of genetic heterogeneity of Noonan syndrome, see NS1 (163950).
Hemolytic uremic syndrome, atypical, 8, with rhizomelic short stature
MedGen UID:
1840221
Concept ID:
C5829585
Disease or Syndrome
Atypical hemolytic uremic syndrome-8 with rhizomelic short stature (AHUS8) is an X-linked disorder with variable manifestations. The age at onset of renal symptoms is variable, ranging from infancy to the early twenties. Features of atypical hemolytic uremic syndrome (aHUS) include acute renal dysfunction with proteinuria, thrombotic microangiopathy, anemia, thrombocytopenia, increased serum lactate dehydrogenase (LDH), and schistocytes on peripheral blood smear. Affected individuals also have short stature with short limbs. More variable features include immunodeficiency with recurrent infections, developmental delay, and dysmorphic features. Treatment with C5 inhibitors results in improvement of renal function. Female carriers may show an attenuated phenotype (Hadar et al., 2023; Erger et al., 2023). For a discussion of genetic heterogeneity of aHUS, see AHUS1 (235400).

Recent clinical studies

Etiology

Snider CC, Amalfi AN, Hutchinson LE, Sommer NZ
Aesthetic Plast Surg 2017 Oct;41(5):1083-1090. Epub 2017 May 15 doi: 10.1007/s00266-017-0889-9. PMID: 28508263
Pessa JE, Zadoo VP, Mutimer KL, Haffner C, Yuan C, DeWitt AI, Garza JR
Plast Reconstr Surg 1998 Jul;102(1):205-12. doi: 10.1097/00006534-199807000-00034. PMID: 9655429
Guyuron B, Michelow B
Plast Reconstr Surg 1994 Mar;93(3):522-9; discussion 530-2. PMID: 8115507
Owsley JQ
Plast Reconstr Surg 1993 Mar;91(3):463-74; discussion 475-6. PMID: 8438018
Pessa JE
Ann Plast Surg 1992 Jul;29(1):23-30. doi: 10.1097/00000637-199207000-00006. PMID: 1497293

Diagnosis

Snider CC, Amalfi AN, Hutchinson LE, Sommer NZ
Aesthetic Plast Surg 2017 Oct;41(5):1083-1090. Epub 2017 May 15 doi: 10.1007/s00266-017-0889-9. PMID: 28508263
Rohrich RJ, Pessa JE, Ristow B
Plast Reconstr Surg 2008 Jun;121(6):2107-2112. doi: 10.1097/PRS.0b013e31817123c6. PMID: 18520902

Therapy

Greco TM, Elenitsas R
J Drugs Dermatol 2010 Apr;9(4):399-404. PMID: 20514801
Guyuron B, Michelow B
Plast Reconstr Surg 1994 Mar;93(3):522-9; discussion 530-2. PMID: 8115507

Prognosis

Guyuron B, Michelow B
Plast Reconstr Surg 1994 Mar;93(3):522-9; discussion 530-2. PMID: 8115507
Pessa JE
Ann Plast Surg 1992 Jul;29(1):23-30. doi: 10.1097/00000637-199207000-00006. PMID: 1497293

Clinical prediction guides

Owsley JQ, Roberts CL
Plast Reconstr Surg 2008 Jan;121(1):258-268. doi: 10.1097/01.prs.0000293872.14916.bb. PMID: 18176229
Pessa JE, Zadoo VP, Mutimer KL, Haffner C, Yuan C, DeWitt AI, Garza JR
Plast Reconstr Surg 1998 Jul;102(1):205-12. doi: 10.1097/00006534-199807000-00034. PMID: 9655429

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