Crossed polysyndactyly

Crossed polysyndactyly is a rare, genetic, congenital limb malformation disorder characterized by unilateral or bilateral postaxial polydactyly in the hands and preaxial polydactyly in the feet, associated with bilateral cutaneous syndactyly of first, second and third toes. Cutaneous syndactyly in hands has also been reported in some patients. There have been no further descriptions in the literature since 1994.



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Narrow down the case reports



Total: 2 (papers)

   


(per page)
Matched Phenotype  Gene  Mutation  MeSH
Rank
(Similarity)		 PMID
(PMCID)
1
(31.0%)		 20127219
 Familial crossed polysyndactyly in four generations of an Indian family.
Dewan P, Agarwal N, Dewan P, Batta V.
World J Pediatr. 2010;6(2):177-80.
Polydactyly
Adult Females Fingers Homo sapiens India Infant, Newborn Male Syndactyly Toes
1
(31.0%)		 8042663
 Familial crossed polysyndactyly.
Goldstein DJ, Kambouris M, Ward RE.
Am J Med Genet. 1994;50(3):215-23.
Syndactyly
Adult Dermatoglyphics Females Genes, Dominant Homo sapiens Infant, Newborn Male Syndactyly
        

Phenotype(s) retrieved from Orphanet

    Total: 11

HPO ID Term Frequency
HP:0001162 Postaxial hand polydactyly Very frequent (99-80%)
HP:0006101 Finger syndactyly Very frequent (99-80%)
HP:0007477 Abnormal dermatoglyphics Frequent (79-30%)
HP:0000288 Abnormality of the philtrum Occasional (29-5%)
HP:0000356 Abnormality of the outer ear Occasional (29-5%)
HP:0000364 Hearing abnormality Occasional (29-5%)
HP:0000486 Strabismus Occasional (29-5%)
HP:0000582 Upslanted palpebral fissure Occasional (29-5%)
HP:0005280 Depressed nasal bridge Occasional (29-5%)
HP:0008736 Hypoplasia of penis Occasional (29-5%)
HP:0009601 Aplasia/Hypoplasia of the thumb Occasional (29-5%)


Phenotype(s) retrieved from case reports

    Total: 0

HPO ID Term # of case reports


Causative gene(s) retrieved from Orphanet

    Total: 0

Gene Symbol Gene Name Entrez Gene ID