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Multiple epiphyseal dysplasia, Al-Gazali type

1 OMIM reference -
1 associated gene
18 signs/symptoms

COMMON GENES: 1
COMMON SIGNS: 2

Joubert syndrome with orofaciodigital defect

4 OMIM references -
5 associated genes
36 signs/symptoms

Multiple epiphyseal dysplasia, Al-Gazali type

Joubert syndrome with orofaciodigital defect

KIF7	(UniProt - OMIM)	KIF7	(UniProt - OMIM)
		OFD1	(UniProt - OMIM)
		PDE6D	(UniProt - OMIM)
		TCTN3	(UniProt - OMIM)
		TMEM216	(UniProt - OMIM)


COMMON GENES	KIF7

Citations in the biomedical literature:

Multiple epiphyseal dysplasia, Al-Gazali type		Joubert syndrome with orofaciodigital defect
	Synonym(s): - Multiple epiphyseal dysplasia - macrocephaly - distinctive facies		Synonym(s): - Joubert syndrome with oral-facial-digital syndrome - OFD6 - Oral-facial-digital syndrome type 6 - Orofaciodigital syndrome type 6 - Polydactyly - cleft lip/palate - psychomotor retardation - VÃ¡radi syndrome - VÃ¡radi-Papp 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 - Rare maxillo-facial surgical disease - Rare neurologic disease - Rare otorhinolaryngologic 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: Class of prevalence: <1 / 1 000 000 Average age onset: neonatal/infancy Average age of death: - Type of inheritance: autosomal recessive

	External references: 1 OMIM reference - No MeSH references		External references: 4 OMIM references - No MeSH references


COMMON SIGNS	- Autosomal recessive inheritance - Low set ears / posteriorly rotated ears

Multiple epiphyseal dysplasia, Al-Gazali type		Joubert syndrome with orofaciodigital defect
	Very frequent - Clinodactyly of fingers 1,2,3,4 / overlapping fingers - Epiphyseal anomaly - Flat cheek bones / malar hypoplasia - Frontal bossing / prominent forehead - Genu valgum - Hypertelorism - Joint / articular deformation - Macrocephaly / macrocrania / megalocephaly / megacephaly - Osteoarthritis - Pectus excavatum - Short neck - Spindle shaped fingers - Syndactyly of fingers / interdigital palm Frequent - Corpus callosum / septum pellucidum total / partial agenesis - Cortical atrophy without hydrocephaly / cerebral hemiatrophy / subcortical atrophy - Generalized obesity		Very frequent - Apnea / sleep apnea - Ataxia / incoordination / trouble of the equilibrium - Cerebellum / cerebellar vermis anomaly / agenesis / hypoplasia - Cleft / notched / bifid tongue - Hypotonia - Intellectual deficit / mental / psychomotor retardation / learning disability - Metacarpal anomalies / Archibald's sign - Oculomotor apraxia / dyspraxia - Oral synechiae / abnormal frenulae - Polydactyly of toes - Respiratory rhythm disorder - Upper limb polydactyly / hexadactyly Frequent - Abnormal gait - Cleft lip - Cleft palate without cleft lip / submucosal cleft palate / bifid uvula - Failure to thrive / difficulties for feeding in infancy / growth delay - Hamartoma / tumefaction of the tongue / gingivae / oral mucosa - Hypothalamic-hypophyseal axis anomalies / hypothalamus / pituitary anomalies - Long face - Narrow forehead - Nystagmus - Undescended / ectopic testes / cryptorchidia / unfixed testes Occasional - Anteverted nares / nostrils - Coloboma of iris - Congenital cardiac anomaly / malformation / cardiopathy - Dolichocolon / megacolon / megadolichocolon / Hirschsprung's disease - Encephalocele / exencephaly - High arched eyebrows - High nasal bridge - Inguinal / inguinoscrotal / crural hernia - Ptosis - Seizures / epilepsy / absences / spasms / status epilepticus - Strabismus / squint - Tremor