SUGARMAN BRACHYDACTYLY

General Information (adopted from Orphanet):

Synonyms, Signs: BRACHYDACTYLY WITH MAJOR PROXIMAL PHALANGEAL SHORTENING
Number of Symptoms 11
OrphanetNr:
OMIM Id: 272150
ICD-10:
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: Autosomal recessive inheritance
[Omim]
Age of onset:

Disease classification (adopted from Orphanet):

Parent Diseases: No data available.

Symptom Information: Sort by abundance 

1
 (HPO:0001156) Brachydactyly syndrome 180 / 7739
2
 (HPO:0011926) Proximal placement of hallux 1 / 7739
3
 (HPO:0005894) Double first metacarpals 1 / 7739
4
 (HPO:0010241) Short proximal phalanx of finger 4 / 7739
5
 (HPO:0009857) Symphalangism affecting the proximal phalanges of the hand 1 / 7739
6
 (HPO:0000007) Autosomal recessive inheritance 2538 / 7739
7
 (OMIM) No proximal interphalangeal joint motion (symphalangism) 1 / 7739
8
 (OMIM) Major shortening in proximal phalanges 1 / 7739
9
 (OMIM) Great toe set dorsal and proximal to the usual position 1 / 7739
10
 (OMIM) Nonarticulating great toe 1 / 7739
11
 (MedDRA:10072883) Brachydactyly 153 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information: