ODCs

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1 OMIM reference -
1 associated gene
18 signs/symptoms

COMMON GENES: 1
COMMON SIGNS: 4

1 OMIM reference -
2 associated genes
19 signs/symptoms

Multiple epiphyseal dysplasia, Al-Gazali type

Acrocallosal syndrome

KIF7	(UniProt - OMIM)		GLI3	(UniProt - OMIM)
			KIF7	(UniProt - OMIM)

Citations in the biomedical literature:

Multiple epiphyseal dysplasia, Al-Gazali type		Acrocallosal syndrome
	Synonym(s): - Multiple epiphyseal dysplasia - macrocephaly - distinctive facies		Synonym(s): - ACS

	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 - Rare neurologic 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


COMMON SIGNS	- Autosomal recessive inheritance - Corpus callosum / septum pellucidum total / partial agenesis - Hypertelorism - Macrocephaly / macrocrania / megalocephaly / megacephaly

Multiple epiphyseal dysplasia, Al-Gazali type		Acrocallosal syndrome
	Very frequent - Clinodactyly of fingers 1,2,3,4 / overlapping fingers - Epiphyseal anomaly - Flat cheek bones / malar hypoplasia - Frontal bossing / prominent forehead - Genu valgum - Joint / articular deformation - Low set ears / posteriorly rotated ears - Osteoarthritis - Pectus excavatum - Short neck - Spindle shaped fingers - Syndactyly of fingers / interdigital palm Frequent - Cortical atrophy without hydrocephaly / cerebral hemiatrophy / subcortical atrophy - Generalized obesity		Very frequent - Intellectual deficit / mental / psychomotor retardation / learning disability - Postaxial polydactyly (hand) Frequent - Dandy-Walker anomaly - Fingerlike / triphalangeal thumb - Prominent occiput / occipital bossing - Sloping forehead Occasional - Cerebellum / cerebellar vermis anomaly / agenesis / hypoplasia - Clavicle absent / abnormal - Diaphragmatic hernia / defect / agenesis - Hypospadias / epispadias / bent penis - Inguinal / inguinoscrotal / crural hernia - Large fontanelle / delayed fontanelle closure - Sensorineural deafness / hearing loss - Tall stature / gigantism / growth acceleration - Undescended / ectopic testes / cryptorchidia / unfixed testes