BRACHYDACTYLY, TYPE A1

General Information (adopted from Orphanet):

Synonyms, Signs: FARABEE-TYPE BRACHYDACTYLY
BDA1
Number of Symptoms 12
OrphanetNr:
OMIM Id: 112500
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:0009843) Aplasia/Hypoplasia of the middle phalanges of the hand 13 / 7739
2
(HPO:0001032) Absent distal interphalangeal creases 9 / 7739
3
(HPO:0006165) Proportionate shortening of all digits 2 / 7739
4
(HPO:0006213) Thin proximal phalanges with broad epiphyses of the hand 2 / 7739
5
(HPO:0001204) Distal symphalangism of hands 13 / 7739
6
(HPO:0009882) Short distal phalanx of finger 125 / 7739
7
(HPO:0010107) Short proximal phalanx of hallux 3 / 7739
8
(HPO:0004322) Short stature 1232 / 7739
9
(OMIM) Broad, short hands 14 / 7739
10
(OMIM) Short, broad proximal phalanx of thumb 1 / 7739
11
(OMIM) Thin metacarpals with broad epiphyses 1 / 7739
12
(MedDRA:10058668) Clinodactyly 91 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Description: (OMIM) In the classification of the brachydactylies, the analysis by Bell (1951) proved highly useful. The type A brachydactylies of Bell have the shortening confined mainly to the middle phalanges. In the A1 type, the middle phalanges of all ...
Clinical Description OMIM This trait has the distinction of being the first in man to be interpreted in mendelian dominant terms, by Farabee (1903). Haws and McKusick (1963) followed up on Farabee's family. The subjects were short of stature. Type A1 ...
Molecular genetics OMIM Studying 2 families with multiple affected members, Mastrobattista et al. (1995) excluded the following candidate genes: HOXD (see 142980), MSX1 (142983), MSX2 (123101), FGF1 (131220), and FGF2 (134920). Affected members of 1 of the families reported by Mastrobattista ...