BRACHYDACTYLY, TYPE A1, C

General Information (adopted from Orphanet):

Synonyms, Signs: BDA1C
Number of Symptoms 12
OrphanetNr:
OMIM Id: 615072
ICD-10:
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: Autosomal recessive inheritance
[Omim]
Age of onset:

Disease classification (adopted from Orphanet):

Parent Diseases: No data available.

Symptom Information: Sort by abundance 

1
(HPO:0001156) Brachydactyly syndrome 180 / 7739
2
(HPO:0004322) Short stature 1232 / 7739
3
(OMIM) Third to fifth metatarsals less shortened 1 / 7739
4
(OMIM) Normally developed fibula 1 / 7739
5
(OMIM) Third to fifth metacarpals less shortened 1 / 7739
6
(OMIM) Shortening of first metacarpal 1 / 7739
7
(OMIM) Truncated ulnar styloid process 1 / 7739
8
(OMIM) Shortening of first metatarsal 1 / 7739
9
(OMIM) Shortening of middle phalanges of digits 2 to 5 1 / 7739
10
(OMIM) Shortening of first distal phalanx 1 / 7739
11
(HPO:0000007) Autosomal recessive inheritance 2538 / 7739
12
(OMIM) Clubfeet (in some patients) <2 of 3 sibs 1 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Clinical Description OMIM Byrnes et al. (2010) studied a consanguineous French Canadian family in which 3 sibs had type A1 brachydactyly. Radiographs and metacarpophalangeal profiles of the proband showed significantly shortened middle phalanges of digits 2 to 5 as well as ...
Molecular genetics OMIM In 3 affected sibs from a consanguineous French Canadian family with type A1 brachydactyly mapping to chromosome 20q11, Byrnes et al. (2010) identified homozygosity for a missense mutation in the candidate gene GDF5 (R399C; 601146.0020). The proband's son, ...