Symphalangism with multiple anomalies of hands and feet

Symphalangism with multiple anomalies of hands and feet is a rare, genetic, congenital limb malformation disorder characterized by bilateral symphalangism of hands and feet associated with cutaneous syndactyly of digits II-V, unilateral or bilateral brachydactyly type D (i.e. short, broad terminal phalanges of the thumbs), clinodactyly of fifth toes and/or mild hypoplasia of the thenar and hypothenar eminences. There have been no further descriptions in the literature since 1981.



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

Phenotype(s) retrieved from Orphanet

    Total: 22

HPO ID Term Frequency
HP:0004197 Symphalangism of the 4th finger Very frequent (99-80%)
HP:0004218 Symphalangism of the 5th finger Very frequent (99-80%)
HP:0006019 Reduced proximal interphalangeal joint space Very frequent (99-80%)
HP:0000256 Macrocephaly Frequent (79-30%)
HP:0001032 Absent distal interphalangeal creases Frequent (79-30%)
HP:0001156 Brachydactyly Frequent (79-30%)
HP:0001245 Small thenar eminence Frequent (79-30%)
HP:0001770 Toe syndactyly Frequent (79-30%)
HP:0005807 Absent distal phalanges Frequent (79-30%)
HP:0006101 Finger syndactyly Frequent (79-30%)
HP:0007477 Abnormal dermatoglyphics Frequent (79-30%)
HP:0009700 Finger symphalangism Frequent (79-30%)
HP:0010179 Symphalangism affecting the phalanges of the toes Frequent (79-30%)
HP:0010182 Abnormality of the distal phalanges of the toes Frequent (79-30%)
HP:0010487 Small hypothenar eminence Frequent (79-30%)
HP:0030084 Clinodactyly Frequent (79-30%)
HP:0000405 Conductive hearing impairment Occasional (29-5%)
HP:0001018 Abnormal palmar dermatoglyphics Occasional (29-5%)
HP:0005650 Cutaneous syndactyly between fingers 2 and 5 Occasional (29-5%)
HP:0006143 Abnormal finger flexion creases Occasional (29-5%)
HP:0010103 Short distal phalanx of hallux Occasional (29-5%)
HP:0100371 Aplasia/Hypoplasia of the distal phalanx of the 5th toe 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