loading...| Preferred Name | Ectrodactyly | |
| Synonyms |
Lobster claw hand Cleft hand |
|
| Definitions |
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. 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. |
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| ID |
http://purl.obolibrary.org/obo/HP_0100257 |
|
| 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. |
|
| creation date |
2010-07-15T03:56:58Z |
|
| creator | ||
| database_cross_reference |
SNOMEDCT_US:81208006 SNOMEDCT_US:13624003 UMLS:C0265554 MSH:C574275 |
|
| 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. |
|
| equivalentClass | ||
| has exact synonym |
Lobster claw hand Cleft hand |
|
| id |
HP:0100257 |
|
| in_subset | ||
| label |
Ectrodactyly |
|
| notation |
HP:0100257 |
|
| prefLabel |
Ectrodactyly |
|
| subClassOf |
http://purl.obolibrary.org/obo/HP_0002813 http://purl.obolibrary.org/obo/HP_0011297 |