Congenital absence/hypoplasia of fingers excluding thumb

General Information (adopted from Orphanet):

Synonyms, Signs: TERMINAL TRANSVERSE DEFECTS OF HAND, UNILATERAL
Digits 2-5 oligodactyly
Digits 2-5 hypodactyly
Number of Symptoms 8
OrphanetNr: 294990
OMIM Id: 102650
ICD-10: Q71.3
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

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

Disease classification (adopted from Orphanet):

Parent Diseases: Adactyly of hand
 -Rare bone disease
 -Rare developmental defect during embryogenesis

Symptom Information: Sort by abundance 

1
 (HPO:0009778) Short thumb 50 / 7739
2
 (HPO:0009776) Adactyly 11 / 7739
3
 (HPO:0001597) Abnormality of the nail 115 / 7739
4
 (OMIM) Absent terminal portions of digits 2 to 5 2 / 7739
5
 (OMIM) Tiny nail remnants on digital stumps 2 / 7739
6
 (HPO:0000006) Autosomal dominant inheritance 2518 / 7739
7
 (OMIM) Unilateral terminal transverse hand defect 2 / 7739
8
 (OMIM) Mildly hypoplastic thumb 2 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information: