Brachydactyly - preaxial hallux varus

General Information (adopted from Orphanet):

Synonyms, Signs: CHRISTIAN BRACHYDACTYLY
Number of Symptoms 22
OrphanetNr: 1278
OMIM Id: 112450
ICD-10: Q73.8
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: 8 cases [Orphanet]
Inheritance: Autosomal dominant
[Orphanet]
Age of onset: Neonatal
[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:0000574) Thick eyebrow Frequent [Orphanet] 96 / 7739
2
 (HPO:0002705) High, narrow palate Frequent [Orphanet] 308 / 7739
3
 (HPO:0002007) Frontal bossing Frequent [Orphanet] 366 / 7739
4
 (HPO:0000431) Wide nasal bridge Frequent [Orphanet] 290 / 7739
5
 (HPO:0000277) Abnormality of the mandible Very frequent [Orphanet] 394 / 7739
6
 (HPO:0000664) Synophrys Frequent [Orphanet] 112 / 7739
7
 (HPO:0010743) Short metatarsal 56 / 7739
8
 (HPO:0001177) Preaxial hand polydactyly Frequent [Orphanet] 59 / 7739
9
 (HPO:0001163) Abnormality of the metacarpal bones Very frequent [Orphanet] 149 / 7739
10
 (HPO:0009882) Short distal phalanx of finger 125 / 7739
11
 (HPO:0001172) Abnormality of the thumb Very frequent [Orphanet] 103 / 7739
12
 (HPO:0009486) Radial deviation of the hand Very frequent [Orphanet] 13 / 7739
13
 (HPO:0004279) Short palm Frequent [Orphanet] 323 / 7739
14
 (HPO:0001234) Hitchhiker thumb 5 / 7739
15
 (HPO:0010109) Short hallux 27 / 7739
16
 (HPO:0010049) Short metacarpal 99 / 7739
17
 (HPO:0009778) Short thumb 50 / 7739
18
 (HPO:0001231) Abnormality of the fingernails Frequent [Orphanet] 116 / 7739
19
 (OMIM) Short abducted thumbs 3 / 7739
20
 (OMIM) Short abducted first toes 1 / 7739
21
 (HPO:0000006) Autosomal dominant inheritance 2518 / 7739
22
 (OMIM) Normal proximal and middle phalanges 1 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information: