BRACHYDACTYLY, TYPE A1, B

General Information (adopted from Orphanet):

Synonyms, Signs: BDA1B
Number of Symptoms 16
OrphanetNr:
OMIM Id: 607004
ICD-10:
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

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

Disease classification (adopted from Orphanet):

Parent Diseases: No data available.

Symptom Information: Sort by abundance 

1
 (HPO:0005819) Short middle phalanx of finger 28 / 7739
2
 (HPO:0010047) Short 5th metacarpal 8 / 7739
3
 (HPO:0009882) Short distal phalanx of finger 125 / 7739
4
 (HPO:0009370) Type A brachydactyly 4 / 7739
5
 (HPO:0009466) Radial deviation of finger 101 / 7739
6
 (HPO:0008111) Broad distal hallux 3 / 7739
7
 (HPO:0010230) Cone-shaped epiphyses of the phalanges of the hand 34 / 7739
8
 (HPO:0004322) Short stature 1232 / 7739
9
 (MedDRA:10058668) Clinodactyly 91 / 7739
10
 (OMIM) No symphalangism 1 / 7739
11
 (HPO:0001425) Heterogeneous 132 / 7739
12
 (OMIM) Broad adducted forefoot 1 / 7739
13
 (OMIM) Premature epiphyseal fusion 1 / 7739
14
 (OMIM) Short proximal first phalanx 1 / 7739
15
 (HPO:0030084) Clinodactyly 90 / 7739
16
 (HPO:0000006) Autosomal dominant inheritance 2518 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Clinical Description OMIM Armour et al. (2000) reported a family with mild brachydactyly type A1 that, except for short stature, was not associated with additional clinical features. They pointed out the usefulness of radiographic analysis, including calculation of a metacarpophalangeal profile, ...