Antecubital pterygium syndrome

General Information (adopted from Orphanet):

Synonyms, Signs:
Number of Symptoms 27
OrphanetNr: 2987
OMIM Id: 178200
ICD-10:
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: 11 cases [Orphanet]
Inheritance: Autosomal dominant
[Orphanet]
Age of onset: Neonatal
Infancy
[Orphanet]

Disease classification (adopted from Orphanet):

Parent Diseases: Genetic dermis disorder
 -Rare genetic disease
Unclassified dermis disorder
 -Rare skin disease

Symptom Information: Sort by abundance 

1
 (HPO:0000112) Nephropathy Occasional [Orphanet] 92 / 7739
2
 (HPO:0000062) Ambiguous genitalia Occasional [Orphanet] 74 / 7739
3
 (HPO:0000047) Hypospadias Occasional [Orphanet] 250 / 7739
4
 (HPO:0000501) Glaucoma Occasional [Orphanet] 180 / 7739
5
 (HPO:0002997) Abnormality of the ulna Very frequent [Orphanet] 75 / 7739
6
 (HPO:0005739) Posterior subluxation of radial head 1 / 7739
7
 (HPO:0003045) Abnormality of the patella Occasional [Orphanet] 33 / 7739
8
 (HPO:0001377) Limited elbow extension 38 / 7739
9
 (HPO:0009760) Antecubital pterygium 5 / 7739
10
 (HPO:0009811) Abnormality of the elbow Very frequent [Orphanet] 30 / 7739
11
 (HPO:0002803) Congenital contracture Occasional [Orphanet] 45 / 7739
12
 (HPO:0001387) Joint stiffness Very frequent [Orphanet] 322 / 7739
13
 (HPO:0003042) Elbow dislocation Frequent [Orphanet] 89 / 7739
14
 (HPO:0001161) Hand polydactyly Occasional [Orphanet] 71 / 7739
15
 (HPO:0001373) Joint dislocation Frequent [Orphanet] 59 / 7739
16
 (HPO:0011867) Abnormality of the wing of the ilium Frequent [Orphanet] 123 / 7739
17
 (HPO:0100490) Camptodactyly of finger Occasional [Orphanet] 212 / 7739
18
 (HPO:0005829) Maldevelopment of radioulnar joint 1 / 7739
19
 (HPO:0002818) Abnormality of the radius Very frequent [Orphanet] 96 / 7739
20
 (HPO:0009775) Amniotic constriction ring Very frequent [Orphanet] 21 / 7739
21
 (HPO:0002023) Anal atresia Occasional [Orphanet] 135 / 7739
22
 (HPO:0001805) Thick nail Very frequent [Orphanet] 96 / 7739
23
 (HPO:0003011) Abnormality of the musculature Very frequent [Orphanet] 47 / 7739
24
 (HPO:0001522) Death in infancy Occasional [Orphanet] 275 / 7739
25
 (HPO:0000006) Autosomal dominant inheritance 2518 / 7739
26
 (OMIM) Limited elbow extension with unimpeded elbow flexion 1 / 7739
27
 (OMIM) Antecubial webbing 1 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Description: (OMIM) Antecubital pterygium syndrome is an autosomal dominant disorder characterized by a fleshy web extending across the anterior aspect of the cubital fossa, absence of the long head of the triceps, limitation of full elbow extension, and missing skin ...
Clinical Description OMIM Shun-Shin (1954) described 8 affected individuals in 3 generations of a family living on the Island of Rodriques (near the island of Mauritius). There was 1 instance of a 'skipped generation.' The web extended across the cubital fossa ...