BRACHYDACTYLY, TYPE A3

General Information (adopted from Orphanet):

Synonyms, Signs: BRACHYDACTYLY-CLINODACTYLY
BRACHYMESOPHALANGY V
BDA3
Number of Symptoms 9
OrphanetNr:
OMIM Id: 112700
ICD-10:
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

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

Disease classification (adopted from Orphanet):

Parent Diseases: No data available.

Symptom Information: Sort by abundance 

1
(HPO:0009370) Type A brachydactyly 4 / 7739
2
(HPO:0004209) Clinodactyly of the 5th finger 288 / 7739
3
(HPO:0005910) Rhomboid or triangular shaped 5th finger middle phalanx 1 / 7739
4
(HPO:0010579) Cone-shaped epiphysis 54 / 7739
5
(HPO:0004220) Short middle phalanx of the 5th finger 17 / 7739
6
(OMIM) Clinomicrodactyly 1 / 7739
7
(HPO:0000006) Autosomal dominant inheritance 2518 / 7739
8
(MedDRA:10072883) Brachydactyly 153 / 7739
9
(OMIM) Normal 14 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Clinical Description OMIM Type A3 brachydactyly is shortening of the middle phalanx of the fifth finger. Slanting of the distal articular surface of the middle phalanx leads to radial deflection of the distal phalanx. Because of rhomboid or triangular shape of ...
Population genetics OMIM Buschang and Malina (1980) noted that 2 indices had been used in previous studies of brachymesophalangy V in various populations: Index 1, based on the ratio of the width to the length of the fifth mid-phalanx, and Index ...