DYSTELEPHALANGY

General Information (adopted from Orphanet):

Synonyms, Signs: KIRNER DEFORMITY
Number of Symptoms 6
OrphanetNr:
OMIM Id: 128000
ICD-10:
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: No data available.

Symptom Information: Sort by abundance 

1
(HPO:0004226) Curved distal phalanx of the 5th finger 1 / 7739
2
(OMIM) Angulated fifth finger distal phalanx metaphysis 1 / 7739
3
(OMIM) Bowed fifth finger distal phalanx 1 / 7739
4
(OMIM) Dystelephalangy 1 / 7739
5
(OMIM) Tip of fifth finger points to thenar eminence 1 / 7739
6
(HPO:0000006) Autosomal dominant inheritance 2518 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Description: (OMIM) Kirner deformity, or dystelephalangy, is a rare malformation of the fifth finger that consists of radial bowing of the terminal phalanx, with the tip of the finger pointing toward the thenar eminence. The deformity is usually bilateral (summary ...
Clinical Description OMIM Dykes (1978) reported 12 cases of Kirner deformity (10 females, including 4 sisters, and 2 males) and reviewed reported cases. The usual feature of the condition was bilateral palmar and radial curvature of the tip of the little ...
Population genetics OMIM David and Burwood (1972) surveyed a selected population form the southwest of England, finding 18 cases of dystelephalangy in 9 families. The incidence in the general population was 1 in 410. There were 12 affected females and 6 ...