Clubfoot, congenital, with or without deficiency of long bones and/or mirror-image polydactyly

Preferred Label : Clubfoot, congenital, with or without deficiency of long bones and/or mirror-image polydactyly;

Symbol : CCF;

CISMeF acronym : CCF;

Type : Phenotype, molecular basis known;

Description : Clubfoot is a congenital limb deformity defined as fixation of the foot in cavus, adductus, varus, and equinus (i.e., inclined inwards, axially rotated outwards, and pointing downwards) with concomitant soft tissue abnormalities (Cardy et al., 2007). Clubfoot may occur in isolation or as part of a syndrome (e.g., diastrophic dysplasia, 222600). Clubfoot has been reported with deficiency of long bones and mirror-image polydactyly (Gurnett et al., 2008; Klopocki et al., 2012).;

Inheritance : Autosomal dominant;

Molecular basis : Caused by mutation in the paired-like homeodomain transcription factor-1 gene (PITX1, 602149.0001);

Prefixed ID : #119800;

Details

Origin ID

119800;

UMLS CUI

C5679943;

Automatic exact mappings (from CISMeF team)
- Congestive heart failure [ICD-11 Category]
Currated CISMeF NLP mapping
- Clubfoot (congenital) [MedDRA LLT]
- Clubfoot, Congenital, with or without Deficiency of Long Bones and/or Mirror-Image Polydactyly [NCIt concept]
- Congenital clubfoot [MedDRA LLT]
- Congenital talipes equinovarus [ICD-10 Sub-category]
- Familial clubfoot due to PITX1 point mutation [ORDO Disease]
- Talipes equinovarus [ICD-10 Sub-category (who)]
- Talipes equinovarus (disorder) [SNOMED CT concept]
- Talipes equinovarus, congenital [MedDRA LLT]
- congenital clubfoot [Disease (Nov.)]
DO Cross reference
- clubfoot [DO Concept]
Genes related to phenotype
- Paired-like homeodomain transcription factor 1 [OMIM gene]
HPO term(s)
- Absent tibia [HPO term]
- Autosomal dominant inheritance [HPO term]
- Bilateral talipes equinovarus [HPO term]
- Congenital onset [HPO term]
- Depressed nasal bridge [HPO term]
- Downslanted palpebral fissures [HPO term]
- Enlarged cisterna magna [HPO term]
- Hypertelorism [HPO term]
- Hypoplasia of the corpus callosum [HPO term]
- Incomplete penetrance [HPO term]
- Low-set ears [HPO term]
- Median cleft palate [HPO term]
- Mirror image foot polydactyly [HPO term]
- Patellar hypoplasia [HPO term]
- Popliteal pterygium [HPO term]
- Preaxial foot polydactyly [HPO term]
- Short stature [HPO term]
- Stillbirth [HPO term]
- Talipes equinovarus [HPO term]
ORDO concept(s)
- Familial clubfoot due to 5q31 microdeletion [ORDO Disease]
- Familial clubfoot due to PITX1 point mutation [ORDO Disease]
- Familial clubfoot with or without associated lower limb anomalies [ORDO Disease]
See also inter- (CISMeF)
- Congenital talipes equinovarus (disorder) [SNOMED CT concept]
Semantic type(s)
- Congenital Abnormality [UMLS semantic type]
UMLS correspondences (same concept)
- CLUBFOOT [WHO-ART Preferred Term]
- Club foot congenital [MedDRA LLT]
- Clubfoot [NCIt concept]
- Clubfoot [MedDRA LLT]
- Clubfoot (congenital) [MedDRA LLT]
- Clubfoot, Congenital, with or without Deficiency of Long Bones and/or Mirror-Image Polydactyly [NCIt concept]
- Congenital clubfoot [MedDRA LLT]
- Congenital talipes equinovarus [ICD-10 Sub-category]
- Congenital talipes equinovarus (disorder) [SNOMED CT concept]
- Equinovarus deformity [HPO term]
- Talipes congenital [MedDRA LLT]
- Talipes equinovarus [ICD-10 Sub-category (who)]
- Talipes equinovarus [MedDRA LLT]
- Talipes equinovarus [HPO term]
- Talipes equinovarus [ICD-9 code]
- Talipes equinovarus [PASCAL descriptor]
- Talipes equinovarus [ICD-11 Sub-sub category]
- Talipes equinovarus (disorder) [SNOMED CT concept]
- Talipes equinovarus, congenital [MedDRA LLT]
- clubfoot [MeSH Descriptor]
- clubfoot [MeSH concept]
- clubfoot [DO Concept]
- clubfoot, nos [SNOMED Notion]
- congenital clubfoot [Disease (Nov.)]
- talipes equinovarus [SNOMED Notion]
Validated automatic mappings to NTBT
- Equinovarus deformity [HPO term]

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