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Ectrodactyly

^ http://purl.obolibrary.org/obo/HP_0100257


A condition in which middle parts of the hands and/or feet (digits and meta-carpals and -tarsals) are missing giving a cleft appearance. The severity is very variable ranging from slightly hypoplastic 3rd toe/fingers over absent 2nd or 3rd toes/fingers as far as oligo- or monodactyl hands and/or feet. [ HPO:sdoelken ]

Term info

database cross reference
  • MSH:C574275
  • SNOMEDCT_US:13624003
  • SNOMEDCT_US:81208006
  • UMLS:C0265554
Subsets

hposlim_core

comment

Hands and feet in one individual might be similarly affected or very diverse and the phenotype is very variable even within families. Penetrance is reduced and some idnividuals have been observed presenting only with unilateral smaller 2nd toe which may be overlooked till a much more severly affected family member is seen.

created by

doelkens

creation date

2010-07-15T03:56:58Z

definition

A condition in which middle parts of the hands and/or feet (digits and meta-carpals and -tarsals) are missing giving a cleft appearance. The severity is very variable ranging from slightly hypoplastic 3rd toe/fingers over absent 2nd or 3rd toes/fingers as far as oligo- or monodactyl hands and/or feet.

has exact synonym

Lobster claw hand, Cleft hand

id

HP:0100257

Term relations