Brachydactyly type A2

General Information (adopted from Orphanet):

Synonyms, Signs: MOHR-WRIEDT TYPE BRACHYDACTYLY
BRACHYMESOPHALANGY II
BDA2
Brachydactyly, Mohr-Wriedt type
Number of Symptoms 33
OrphanetNr: 93396
OMIM Id: 112600
ICD-10: Q73.8
UMLs: C1832702
MeSH: C537089
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: Autosomal dominant
[Orphanet]
Age of onset: Neonatal
Infancy
[Orphanet]

Disease classification (adopted from Orphanet):

Parent Diseases: Syndrome with brachydactyly
 -Rare bone disease
 -Rare developmental defect during embryogenesis

Symptom Information: Sort by abundance 

1
 (HPO:0001159) Syndactyly 140 / 7739
2
 (HPO:0009700) Finger symphalangism 55 / 7739
3
 (HPO:0010109) Short hallux 27 / 7739
4
 (HPO:0006494) Aplasia/Hypoplasia involving bones of the feet Frequent [Orphanet] 69 / 7739
5
 (HPO:0010055) Broad hallux 56 / 7739
6
 (HPO:0009161) Aplasia/Hypoplasia of the middle phalanx of the 5th finger 4 / 7739
7
 (HPO:0009575) Triangular shaped middle phalanx of the 2nd finger 2 / 7739
8
 (HPO:0009568) Aplasia/Hypoplasia of the middle phalanx of the 2nd finger 4 / 7739
9
 (HPO:0004279) Short palm Very frequent [Orphanet] 323 / 7739
10
 (HPO:0001163) Abnormality of the metacarpal bones Occasional [Orphanet] 149 / 7739
11
 (HPO:0009843) Aplasia/Hypoplasia of the middle phalanges of the hand 13 / 7739
12
 (HPO:0009182) Triangular shaped middle phalanx of the 5th finger 1 / 7739
13
 (HPO:0009514) Bracket epiphysis of the middle phalanx of the 2nd finger 1 / 7739
14
 (HPO:0009536) Short 2nd finger 6 / 7739
15
 (HPO:0001156) Brachydactyly syndrome 180 / 7739
16
 (HPO:0001822) Hallux valgus 70 / 7739
17
 (HPO:0010194) Aplasia/Hypoplasia of the middle phalanges of the toes 4 / 7739
18
 (HPO:0009464) Ulnar deviation of the 2nd finger 6 / 7739
19
 (HPO:0009467) Radial deviation of the 2nd finger 6 / 7739
20
 (HPO:0008096) Medially deviated second toe 1 / 7739
21
 (HPO:0004209) Clinodactyly of the 5th finger Frequent [Orphanet] 288 / 7739
22
 (HPO:0009882) Short distal phalanx of finger Occasional [Orphanet] 125 / 7739
23
 (HPO:0001770) Toe syndactyly 149 / 7739
24
 (HPO:0005819) Short middle phalanx of finger 28 / 7739
25
 (HPO:0010621) Cutaneous syndactyly of toes 36 / 7739
26
 (HPO:0004220) Short middle phalanx of the 5th finger 17 / 7739
27
 (HPO:0009204) Bracket epiphysis of the middle phalanx of the 5th finger 1 / 7739
28
 (HPO:0004691) 2-3 toe syndactyly 50 / 7739
29
 (HPO:0004322) Short stature 1232 / 7739
30
 (MedDRA:10072883) Brachydactyly 153 / 7739
31
 (HPO:0000006) Autosomal dominant inheritance 2518 / 7739
32
 (OMIM) Variable fifth finger clinodactyly 1 / 7739
33
 (OMIM) Short, broad laterally deviated halluces 1 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Description: (OMIM) Brachydactyly type A2 is an autosomal dominant disorder characterized by malformations of the middle phalanx of the index finger and by anomalies of the second toe (summary by Su et al., 2011).
Clinical Description OMIM Shortening of the middle phalanges is confined to the index finger and the second toe, all other digits being more or less normal. Because of a rhomboid or triangular shape of the affected middle phalanx, the end of ...
Molecular genetics OMIM - Mutations in BMPR1B

In affected members of a German family with BDA2, Lehmann et al. (2003) identified an ile200-to-lys mutation in the BMPR1B gene (I200K; 603248.0001), and in affected members of the another German family, ...