ODCs

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1 OMIM reference -
1 associated gene
5 signs/symptoms

COMMON GENES: 1
COMMON SIGNS: 1

1 OMIM reference -
1 associated gene
6 signs/symptoms

Familial clubfoot due to 17q23.1q23.2 microduplication

Coxo-podo-patellar syndrome

TBX4

Citations in the biomedical literature:

Familial clubfoot due to 17q23.1q23.2 microduplication		Coxo-podo-patellar syndrome
	Synonym(s): - Hereditary clubfoot due to 17q23.1-q23.2 microduplication		Synonym(s): - Ischiopatellar dysplasia - SPS - Scott-Taor syndrome - Small patella syndrome

	Classification (Orphanet): - Rare bone disease - Rare developmental defect during embryogenesis - Rare genetic disease		Classification (Orphanet): - Rare bone disease - Rare developmental defect during embryogenesis - Rare genetic disease

	Classification (ICD10): - Congenital malformations, deformations and chromosomal abnormalities -		Classification (ICD10): - Congenital malformations, deformations and chromosomal abnormalities -

	Epidemiological data: Class of prevalence: <1 / 1 000 000 Average age onset: neonatal/infancy Average age of death: - Type of inheritance: autosomal dominant		Epidemiological data: Class of prevalence: <1 / 1 000 000 Average age onset: neonatal/infancy Average age of death: normal Type of inheritance: autosomal dominant

	External references: 1 OMIM reference - No MeSH references		External references: 1 OMIM reference - No MeSH references


COMMON SIGNS	- Hip dislocation / dysplasia / coxa valga / coxa vara / coxa plana

Familial clubfoot due to 17q23.1q23.2 microduplication		Coxo-podo-patellar syndrome
	Very frequent - Talipes-varus / metatarsal varus - Total / partial trisomy / duplication Frequent - Short stature / dwarfism / nanism Occasional - Thin / hypoplastic toenails		Very frequent - Autosomal dominant inheritance - Epiphyseal anomaly - Knee anomalies (excluding patella) - Patella absent / abnormal (excluding luxation) Frequent - Pelvis anomaly / Narrow / broad iliac wings / pubis abnormality