Congenital absence/hypoplasia of fingers excluding thumb, unilateral

Congenital absence/hypoplasia of fingers excluding thumb, unilateral is a rare, non-syndromic, terminal transverse limb reduction defect characterized by unilateral absence of the terminal portions of digits 2 to 5, with a mildly hypoplastic thumb and small nail remnants on the digital stumps. Metacarpal bones may be variably reduced.



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

Phenotype(s) retrieved from Orphanet

    Total: 5

HPO ID Term Frequency
HP:0001163 Abnormality of the metacarpal bones Very frequent (99-80%)
HP:0001799 Short nail Very frequent (99-80%)
HP:0009778 Short thumb Very frequent (99-80%)
HP:0009988 Duplication of the distal phalanx of the 5th finger Very frequent (99-80%)
HP:0010049 Short metacarpal Very frequent (99-80%)


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