Brachydactyly-syndactyly, Zhao type

Brachydactyly-syndactyly, Zhao type is a recently described syndrome associating a brachydactyly type A4 (short middle phalanges of the 2nd and 5th fingers and absence of middle phalanges of the 2nd to 5th toes) and a syndactyly of the 2nd and 3rd toes. Metacarpals and metatarsals anomalies are common.



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Matched Phenotype  Gene  Mutation  MeSH
Rank
(Similarity)		 PMID
(PMCID)
        

Phenotype(s) retrieved from Orphanet

    Total: 7

HPO ID Term Frequency
HP:0001770 Toe syndactyly Very frequent (99-80%)
HP:0004220 Short middle phalanx of the 5th finger Very frequent (99-80%)
HP:0004704 Short fifth metatarsal Very frequent (99-80%)
HP:0009577 Short middle phalanx of the 2nd finger Very frequent (99-80%)
HP:0010047 Short 5th metacarpal Very frequent (99-80%)
HP:0001822 Hallux valgus Frequent (79-30%)
HP:0009773 Symphalangism affecting the phalanges of the hand Frequent (79-30%)


Phenotype(s) retrieved from case reports

    Total: 0

HPO ID Term # of case reports


Causative gene(s) retrieved from Orphanet

    Total: 1

Gene Symbol Gene Name Entrez Gene ID
HOXD13 homeobox D13 3239