Ulnar hypoplasia - split foot

General Information (adopted from Orphanet):

Synonyms, Signs: Van den Berghe-Dequecker syndrome
Ulnar hypoplasia - lobster-claw deformity of feet
Number of Symptoms 6
OrphanetNr: 1122
OMIM Id: 314360
ICD-10: Q73.8
UMLs: C1839123
MeSH: C536936
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance:
Age of onset:

Disease classification (adopted from Orphanet):

Parent Diseases: Dysostosis with combined reduction defects of upper and lower limbs
 -Rare bone disease
 -Rare developmental defect during embryogenesis

Symptom Information: Sort by abundance 

1
 (HPO:0001839) Split foot 28 / 7739
2
 (HPO:0009380) Aplasia of the fingers Very frequent [Orphanet] 51 / 7739
3
 (HPO:0003022) Hypoplasia of the ulna 40 / 7739
4
 (HPO:0002818) Abnormality of the radius Very frequent [Orphanet] 96 / 7739
5
 (HPO:0009381) Short finger 45 / 7739
6
 (OMIM) Fingers 2 to 5 hypoplastic 1 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Clinical Description OMIM Van den Berghe et al. (1978) described a family in which 4 males in 2 generations showed almost complete absence of the ulna and of fingers 2 to 5, together with lobster-claw deformity of the feet. Conductor females ...