Brachydactyly-preaxial hallux varus syndrome

Preaxial brachydactyly-hallux varus syndrome is characterized the association of hallux varus with short thumbs and first toes (involving the metacarpals, metatarsals, and distal phalanges; the proximal and middle phalanges are of normal length) and abduction of the affected digits.



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

Phenotype(s) retrieved from Orphanet

    Total: 13

HPO ID Term Frequency
HP:0000347 Micrognathia Very frequent (99-80%)
HP:0004059 Radial club hand Very frequent (99-80%)
HP:0010049 Short metacarpal Very frequent (99-80%)
HP:0010743 Short metatarsal Very frequent (99-80%)
HP:0011304 Broad thumb Very frequent (99-80%)
HP:0000174 Abnormal palate morphology Frequent (79-30%)
HP:0000431 Wide nasal bridge Frequent (79-30%)
HP:0000574 Thick eyebrow Frequent (79-30%)
HP:0000664 Synophrys Frequent (79-30%)
HP:0001156 Brachydactyly Frequent (79-30%)
HP:0001177 Preaxial hand polydactyly Frequent (79-30%)
HP:0001231 Abnormal fingernail morphology Frequent (79-30%)
HP:0002007 Frontal bossing Frequent (79-30%)


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