Congenital absence/hypoplasia of fingers excluding thumb, unilateral

General Information (adopted from Orphanet):

Synonyms, Signs: TERMINAL TRANSVERSE DEFECTS OF HAND, UNILATERAL
Adactylia of hand, unilateral
Number of Symptoms 7
OrphanetNr: 973
OMIM Id: 102650
ICD-10: Q71.3
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: < 10 cases [Orphanet]
Inheritance: Autosomal dominant
Not applicable
[Orphanet]
Age of onset: Neonatal
[Orphanet]

Disease classification (adopted from Orphanet):

Parent Diseases: Congenital absence/hypoplasia of fingers excluding thumb
 -Rare bone disease
 -Rare developmental defect during embryogenesis

Symptom Information: Sort by abundance 

1
 (HPO:0009601) Aplasia/Hypoplasia of the thumb Very frequent [Orphanet] 80 / 7739
2
 (HPO:0001163) Abnormality of the metacarpal bones Very frequent [Orphanet] 149 / 7739
3
 (HPO:0001231) Abnormality of the fingernails Very frequent [Orphanet] 116 / 7739
4
 (OMIM) Mildly hypoplastic thumb 2 / 7739
5
 (OMIM) Absent terminal portions of digits 2 to 5 2 / 7739
6
 (OMIM) Tiny nail remnants on digital stumps 2 / 7739
7
 (OMIM) Unilateral terminal transverse hand defect 2 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information: