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Joubert syndrome with orofaciodigital defect
4 OMIM references -
5 associated genes
24 connected diseases
36 signs/symptoms
Disease Type of connection
Primary ciliary dyskinesia
Retinitis pigmentosa
Acrocallosal syndrome
Hydrolethalus
Joubert syndrome
Joubert syndrome with ocular defect
Joubert syndrome with oculorenal defect
Meckel syndrome
Multiple epiphyseal dysplasia, Al-Gazali type
Orofaciodigital syndrome type 1
Orofaciodigital syndrome type 4
Simpson-Golabi-Behmel syndrome type 2
Achromatopsia
Cone rod dystrophy
Primary ciliary dyskinesia - retinitis pigmentosa
Capillary malformation - arteriovenous malformation
Costello syndrome
Linear nevus sebaceus syndrome
Parkes Weber syndrome
Phakomatosis pigmentokeratotica
Congenital stationary night blindness
Oguchi disease
Micro syndrome
Monomelic amyotrophy
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
- Váradi syndrome
- Váradi-Papp syndrome
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 -
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:
4 OMIM references -
No MeSH references
Very frequent
- Apnea / sleep apnea
- Ataxia / incoordination / trouble of the equilibrium
- Autosomal recessive inheritance
- 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
- Low set ears / posteriorly rotated ears
- Ptosis
- Seizures / epilepsy / absences / spasms / status epilepticus
- Strabismus / squint
- Tremor