Brachydactyly type A1

General Information (adopted from Orphanet):

Synonyms, Signs: Brachydactyly, Farabee type
Number of Symptoms 30
OrphanetNr: 93388
OMIM Id: 112500
607004
615072
ICD-10: Q73.8
UMLs: C1862151
MeSH: C537088
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:0009882) Short distal phalanx of finger 125 / 7739
2
 (HPO:0006494) Aplasia/Hypoplasia involving bones of the feet Very frequent [Orphanet] 69 / 7739
3
 (HPO:0002650) Scoliosis Occasional [Orphanet] 705 / 7739
4
 (HPO:0006146) Broad metacarpal epiphyses 1 / 7739
5
 (HPO:0004279) Short palm Very frequent [Orphanet] 323 / 7739
6
 (HPO:0010109) Short hallux Very frequent [Orphanet] 27 / 7739
7
 (HPO:0009601) Aplasia/Hypoplasia of the thumb Very frequent [Orphanet] 80 / 7739
8
 (HPO:0005194) Flattened metatarsal heads 3 / 7739
9
 (HPO:0009462) Radial deviation of the 3rd finger 2 / 7739
10
 (HPO:0009279) Radial deviation of the 4th finger 2 / 7739
11
 (HPO:0010107) Short proximal phalanx of hallux 3 / 7739
12
 (HPO:0001156) Brachydactyly syndrome 180 / 7739
13
 (HPO:0006165) Proportionate shortening of all digits 2 / 7739
14
 (HPO:0009700) Finger symphalangism Occasional [Orphanet] 55 / 7739
15
 (HPO:0001762) Talipes equinovarus Occasional [Orphanet] 309 / 7739
16
 (HPO:0002997) Abnormality of the ulna Occasional [Orphanet] 75 / 7739
17
 (HPO:0004209) Clinodactyly of the 5th finger Occasional [Orphanet] 288 / 7739
18
 (HPO:0001163) Abnormality of the metacarpal bones Occasional [Orphanet] 149 / 7739
19
 (HPO:0006213) Thin proximal phalanges with broad epiphyses of the hand 2 / 7739
20
 (HPO:0001032) Absent distal interphalangeal creases 9 / 7739
21
 (HPO:0001169) Broad palm 43 / 7739
22
 (HPO:0001204) Distal symphalangism of hands 13 / 7739
23
 (HPO:0010049) Short metacarpal 99 / 7739
24
 (HPO:0009638) Short proximal phalanx of thumb 4 / 7739
25
 (HPO:0009467) Radial deviation of the 2nd finger 6 / 7739
26
 (HPO:0006236) Slender metacarpals 2 / 7739
27
 (HPO:0010579) Cone-shaped epiphysis Frequent [Orphanet] 54 / 7739
28
 (HPO:0004322) Short stature Very frequent [Orphanet] 1232 / 7739
29
 (HPO:0001425) Heterogeneous 132 / 7739
30
 (HPO:0000006) Autosomal dominant inheritance 2518 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information: