Brachydactyly type A4

General Information (adopted from Orphanet):

Synonyms, Signs: TEMTAMY TYPE BRACHYDACTYLY
BDA4
brachymesophalangy ii and v
Brachydactyly, Temtamy type
Number of Symptoms 16
OrphanetNr: 93394
OMIM Id: 112800
ICD-10: Q73.8
UMLs:
MeSH:
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:0001762) Talipes equinovarus Occasional [Orphanet] 309 / 7739
2
 (HPO:0100387) Aplasia of the middle phalanges of the toes 1 / 7739
3
 (HPO:0005819) Short middle phalanx of finger 28 / 7739
4
 (HPO:0004220) Short middle phalanx of the 5th finger 17 / 7739
5
 (HPO:0009577) Short middle phalanx of the 2nd finger 4 / 7739
6
 (HPO:0009700) Finger symphalangism Frequent [Orphanet] 55 / 7739
7
 (HPO:0006494) Aplasia/Hypoplasia involving bones of the feet Very frequent [Orphanet] 69 / 7739
8
 (HPO:0009370) Type A brachydactyly 4 / 7739
9
 (HPO:0004279) Short palm Very frequent [Orphanet] 323 / 7739
10
 (HPO:0005850) Congenital talipes calcaneovalgus 2 / 7739
11
 (HPO:0004322) Short stature Frequent [Orphanet] 1232 / 7739
12
 (HPO:0000006) Autosomal dominant inheritance 2518 / 7739
13
 (OMIM) Brachymesophalangy affecting mainly the 2nd and 5th digits 1 / 7739
14
 (OMIM) Normal 14 / 7739
15
 (OMIM) Absent middle phalanges of the lateral four toes 1 / 7739
16
 (MedDRA:10072883) Brachydactyly 153 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Clinical Description OMIM In 13 persons in 4 generations, with male-to-male transmission, Bass (1968) found absence of the middle phalanges and nail dysplasia. The terminal phalanx of the thumb was duplicated. Cuevas-Sosa and Garcia-Segur (1971) reported a family.

Temtamy ...