ODCs

Click node...

Joubert syndrome with orofaciodigital defect

4 OMIM references -
5 associated genes
36 signs/symptoms

COMMON GENES: 1
COMMON SIGNS: 8

Orofaciodigital syndrome type 4

1 OMIM reference -
1 associated gene
46 signs/symptoms

Joubert syndrome with orofaciodigital defect

Orofaciodigital syndrome type 4

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


COMMON GENES	TCTN3

Citations in the biomedical literature:

Joubert syndrome with orofaciodigital defect		Orofaciodigital syndrome type 4
	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		Synonym(s): - Baraitser-Burn syndrome - OFD4 - Oral-facial-digital syndrome type 4

	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 (Orphanet): - Rare bone disease - Rare developmental defect during embryogenesis - Rare genetic disease - Rare maxillo-facial surgical disease - Rare neurologic disease - Rare otorhinolaryngologic disease - Rare respiratory 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: 4 OMIM references - No MeSH references		External references: 1 OMIM reference - No MeSH references


COMMON SIGNS	- Autosomal recessive inheritance - Cleft palate without cleft lip / submucosal cleft palate / bifid uvula - Congenital cardiac anomaly / malformation / cardiopathy - Failure to thrive / difficulties for feeding in infancy / growth delay - Hamartoma / tumefaction of the tongue / gingivae / oral mucosa - Intellectual deficit / mental / psychomotor retardation / learning disability - Low set ears / posteriorly rotated ears - Oral synechiae / abnormal frenulae

Joubert syndrome with orofaciodigital defect		Orofaciodigital syndrome type 4
	Very frequent - Apnea / sleep apnea - Ataxia / incoordination / trouble of the equilibrium - Cerebellum / cerebellar vermis anomaly / agenesis / hypoplasia - Cleft / notched / bifid tongue - Hypotonia - Metacarpal anomalies / Archibald's sign - Oculomotor apraxia / dyspraxia - Polydactyly of toes - Respiratory rhythm disorder - Upper limb polydactyly / hexadactyly Frequent - Abnormal gait - Cleft lip - 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 - 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		Very frequent - Abnormal eye movements / oculomotor disorder - Broad nose / nasal bridge - Choanal atresia - Cleft lip and palate - Conductive deafness / hearing loss - Flattened nose - Genu varum - Hypertelorism - Hypoplastic mandibula / partial absence of the mandibula - Intrauterine growth retardation - Joint dislocation / subluxation - Laryngomalacia - Median cleft lip - Mesomelic micromelia - Microcephaly - Micrognathia / retrognathia / micrognathism / retrognathism - Microtia / cryptomicrotia / anotia / external auditory canal / pinnae aplasia / hypoplasia - Oligoamnios - Postaxial polydactyly (hand) - Preaxial polydactyly (hand) - Repeat respiratory infections - Short stature / dwarfism / nanism - Short / small nose - Small / atrophic / hypoplastic testes / monorchism / microorchidism / anorchia - Stillbirth / neonatal death - Syndactyly of fingers / interdigital palm - Tibia anomaly (excluding short) / absence / agenesis / hypoplasia / tibial ray anomaly Frequent - Complete claw hand / camptodactyly of all fingers - Cortical atrophy without hydrocephaly / cerebral hemiatrophy / subcortical atrophy - High vaulted / narrow palate - Proptosis / exophthalmos Occasional - Agenesis / hypoplasia / aplasia of kidneys - Cortico-adrenal hypoplasia / insufficiency - Helix / crux helix absent / abnormal / adherent / crux cymbae / posterior helix pits - Hypoplastic lungs / pulmonary hypoplasia / agenesis - Imperforate anus / rectum atresia / agenesis / recto-vaginal / vesical / perineal fistula - Short philtrum - Thin / hypoplastic toenails