Crossed polysyndactyly

General Information (adopted from Orphanet):

Synonyms, Signs: Crossed polydactyly
Number of Symptoms 11
OrphanetNr: 2935
OMIM Id: 175690
ICD-10: Q70.4
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

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

Disease classification (adopted from Orphanet):

Parent Diseases: Syndrome with limb duplication, polydactyly, syndactyly, and/or hyperphalangy
 -Rare bone disease
 -Rare developmental defect during embryogenesis

Symptom Information: Sort by abundance 

1
(HPO:0000054) Micropenis Occasional [Orphanet] 257 / 7739
2
(HPO:0005280) Depressed nasal bridge Occasional [Orphanet] 381 / 7739
3
(HPO:0000582) Upslanted palpebral fissure Occasional [Orphanet] 185 / 7739
4
(HPO:0000288) Abnormality of the philtrum Occasional [Orphanet] 54 / 7739
5
(HPO:0000486) Strabismus Occasional [Orphanet] 576 / 7739
6
(HPO:0008772) Aplasia/Hypoplasia of the external ear Occasional [Orphanet] 67 / 7739
7
(HPO:0000598) Abnormality of the ear Occasional [Orphanet] 98 / 7739
8
(HPO:0006101) Finger syndactyly Very frequent [Orphanet] 198 / 7739
9
(HPO:0001162) Postaxial hand polydactyly Very frequent [Orphanet] 119 / 7739
10
(HPO:0009601) Aplasia/Hypoplasia of the thumb Occasional [Orphanet] 80 / 7739
11
(HPO:0007477) Abnormal dermatoglyphics Frequent [Orphanet] 72 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Clinical Description OMIM Goldstein et al. (1994) observed a distinct form of 'crossed' polysyndactyly in 6 generations of a family. The anomaly was transmitted from father to son through 3 generations, and a great-grandfather of the first of these 3 and ...