Orphanet Rare Disease Ontology

Last uploaded: July 3, 2024
Preferred Name

Familial clubfoot with or without associated lower limb anomalies
Synonyms
Definitions

Familial clubfoot with or without associated lower limb anomalies is a rare congenital limb malformation syndrome characterized by malalignment of the bones and joints of the foot and ankle, with presence of forefoot and midfoot adductus, hindfoot varus, and ankle equinus, presenting as rigid inward turning of the foot towards the midline, in various members of a single family. Hypoplasia of lower leg muscles is a frequently associated finding. Patients may present with other low-limb malformations, such as patellar hypoplasia, oblique talus, tibial hemimelia, and polydactyly.

ID

http://www.orpha.net/ORDO/Orphanet_199315

definition

Familial clubfoot with or without associated lower limb anomalies is a rare congenital limb malformation syndrome characterized by malalignment of the bones and joints of the foot and ankle, with presence of forefoot and midfoot adductus, hindfoot varus, and ankle equinus, presenting as rigid inward turning of the foot towards the midline, in various members of a single family. Hypoplasia of lower leg muscles is a frequently associated finding. Patients may present with other low-limb malformations, such as patellar hypoplasia, oblique talus, tibial hemimelia, and polydactyly.

definition_citation

Orphanet

expertlink

https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=199315

hasDbXref

OMIM:119800

UMLS:C5680522

OMIM:613618

ICD-10:Q66.8

ICD-11:LB98.Y

label

Familial clubfoot with or without associated lower limb anomalies

notation

ORPHA:199315

part_of

http://www.orpha.net/ORDO/Orphanet_364568

http://www.orpha.net/ORDO/Orphanet_109009

http://www.orpha.net/ORDO/Orphanet_404577

http://www.orpha.net/ORDO/Orphanet_404571

prefixIRI

ORDO:Orphanet_199315

prefLabel

Familial clubfoot with or without associated lower limb anomalies

treeView

http://www.orpha.net/ORDO/Orphanet_364568

http://www.orpha.net/ORDO/Orphanet_109009

http://www.orpha.net/ORDO/Orphanet_404577

http://www.orpha.net/ORDO/Orphanet_404571

subClassOf

http://www.orpha.net/ORDO/Orphanet_377789

http://www.orpha.net/ORDO/Orphanet_557493

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