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Multiple epiphyseal dysplasia, Al-Gazali type
1 OMIM reference -
1 associated gene
18 signs/symptoms
COMMON GENES: 1
COMMON SIGNS: 3
Joubert syndrome
9 OMIM references -
10 associated genes
35 signs/symptoms
Multiple epiphyseal dysplasia, Al-Gazali type
Joubert syndrome

KIF7
(UniProt - OMIM)
 ARL13B
(UniProt - OMIM)
C5ORF42
(UniProt - OMIM)
CEP41
(UniProt - OMIM)
CSPP1
(UniProt - OMIM)
INPP5E
(UniProt - OMIM)
KIF7
(UniProt - OMIM)
TCTN1
(UniProt - OMIM)
TMEM231
(UniProt - OMIM)
TMEM237
(UniProt - OMIM)
TMEM67
(UniProt - OMIM)

COMMON
GENES 		KIF7


Citations in the biomedical literature:


Multiple epiphyseal dysplasia, Al-Gazali type
KIF7
Joubert syndrome
ARL13B C5ORF42 CEP41 CSPP1 INPP5E
TCTN1 TMEM231 TMEM237 TMEM67



Multiple epiphyseal dysplasia, Al-Gazali type
Joubert syndrome

Synonym(s):
- Multiple epiphyseal dysplasia - macrocephaly - distinctive facies
Synonym(s):
- CPD IV
- Cerebelloparenchymal disorder IV
- Classic Joubert syndrome
- Joubert syndrome type A
- Joubert-Boltshauser syndrome
- Pure Joubert syndrome
Classification (Orphanet):
- Rare bone disease
- Rare developmental defect during embryogenesis
- Rare genetic disease
Classification (Orphanet):
- 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:
Class of prevalence: 1-9 / 100 000
Average age onset: neonatal/infancy
Average age of death: -
Type of inheritance: autosomal recessive
External references:
1 OMIM reference -
No MeSH references
External references:
9 OMIM references -
No MeSH references
COMMON
SIGNS 		- Autosomal recessive inheritance
- Corpus callosum / septum pellucidum total / partial agenesis
- Low set ears / posteriorly rotated ears

Multiple epiphyseal dysplasia, Al-Gazali type
Joubert 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
- Hypertelorism
- Joint / articular deformation
- Macrocephaly / macrocrania / megalocephaly / megacephaly
- 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
- Apnea / sleep apnea
- Ataxia / incoordination / trouble of the equilibrium
- Cerebellum / cerebellar vermis anomaly / agenesis / hypoplasia
- Hypotonia
- Intellectual deficit / mental / psychomotor retardation / learning disability
- Oculomotor apraxia / dyspraxia
- Respiratory rhythm disorder

Frequent
- Abnormal gait
- Failure to thrive / difficulties for feeding in infancy / growth delay
- Long face
- Narrow forehead
- Nystagmus

Occasional
- Agyria / micro / pachy / macrogyria / lissencephaly / gyration / neuronal migration defect
- Anomalies of spine, vertebrae and pelvis
- Anteverted nares / nostrils
- Cleft lip and palate
- Coloboma of iris
- Congenital cardiac anomaly / malformation / cardiopathy
- Dextrocardia / abnormal heart position / cardiac heterotaxia / situs inversus
- Dolichocolon / megacolon / megadolichocolon / Hirschsprung's disease
- Encephalocele / exencephaly
- High arched eyebrows
- High nasal bridge
- Hydrocephaly
- Hypothalamic-hypophyseal axis anomalies / hypothalamus / pituitary anomalies
- Polydactyly of toes
- Ptosis
- Scoliosis
- Seizures / epilepsy / absences / spasms / status epilepticus
- Strabismus / squint
- Tremor
- Upper limb polydactyly / hexadactyly