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Acrocapitofemoral dysplasia

1 OMIM reference -
1 associated gene
20 signs/symptoms

PROTEIN INTERACTIONS: 1

Commissural facial cleft

1 OMIM reference -
2 associated genes
No signs/symptoms info

Acrocapitofemoral dysplasia

Commissural facial cleft

IHH	(UniProt - OMIM)		PTCH2	(UniProt - OMIM)
			SPECC1L	(UniProt - OMIM)


INTERACTOME ASSOCIATIONS (click on a score value to see the evidence)	IHH	(0.52)	PTCH2

Citations in the biomedical literature:

Acrocapitofemoral dysplasia		Commissural facial cleft
	Synonym(s): (no synonyms)		Synonym(s): - Macrostomia

	Classification (Orphanet): - Rare bone disease - Rare developmental defect during embryogenesis - Rare genetic disease		Classification (Orphanet): - Rare developmental defect during embryogenesis - Rare genetic disease - Rare maxillo-facial surgical 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 recessive		Epidemiological data: (no data available)

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

Acrocapitofemoral dysplasia
	Very frequent - Autosomal recessive inheritance - Cone epiphyses / epiphysis - Delayed bone age - Femur anomaly / absence / agenesis / hypoplasia / bifurcation - Hip dislocation / dysplasia / coxa valga / coxa vara / coxa plana - Short hand / brachydactyly - Short limbs / micromelia / brachymelia - Short stature / dwarfism / nanism Frequent - Abnormal vertebral size / shape - Absent / small fingernails / anonychia of hands - Genu varum - Lordosis - Metacarpal anomalies / Archibald's sign - Pelvis anomaly / Narrow / broad iliac wings / pubis abnormality Occasional - Macrocephaly / macrocrania / megalocephaly / megacephaly - Narrow rib cage / thorax - Pectus carinatum - Pectus excavatum - Scoliosis - Short rib cage / thorax
Commissural facial cleft
(no data available)