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Joubert syndrome with orofaciodigital defect

4 OMIM references -
5 associated genes
36 signs/symptoms

COMMON GENES: 1
COMMON SIGNS: 11

Orofaciodigital syndrome type 1

1 OMIM reference -
1 associated gene
67 signs/symptoms

Joubert syndrome with orofaciodigital defect

Orofaciodigital syndrome type 1

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


COMMON GENES	OFD1

Citations in the biomedical literature:

Joubert syndrome with orofaciodigital defect		Orofaciodigital syndrome type 1
	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): - OFD1 - OFDI - OFDSI - Oral-facial-digital syndrome type 1 - Papillon-LÃ©age-Psaume 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 (Orphanet): - Rare bone disease - Rare developmental defect during embryogenesis - Rare genetic disease - Rare maxillo-facial surgical disease - Rare neurologic disease - Rare otorhinolaryngologic disease - Rare renal disease - Rare skin 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: unknown Average age onset: neonatal/infancy Average age of death: any age Type of inheritance: sporadic

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


COMMON SIGNS	- Ataxia / incoordination / trouble of the equilibrium - Cleft lip - Cleft palate without cleft lip / submucosal cleft palate / bifid uvula - Cleft / notched / bifid tongue - Hamartoma / tumefaction of the tongue / gingivae / oral mucosa - Intellectual deficit / mental / psychomotor retardation / learning disability - Oral synechiae / abnormal frenulae - Polydactyly of toes - Seizures / epilepsy / absences / spasms / status epilepticus - Tremor - Upper limb polydactyly / hexadactyly

Joubert syndrome with orofaciodigital defect		Orofaciodigital syndrome type 1
	Very frequent - Apnea / sleep apnea - Autosomal recessive inheritance - Cerebellum / cerebellar vermis anomaly / agenesis / hypoplasia - Hypotonia - Metacarpal anomalies / Archibald's sign - Oculomotor apraxia / dyspraxia - Respiratory rhythm disorder Frequent - Abnormal gait - Failure to thrive / difficulties for feeding in infancy / growth delay - 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 - Strabismus / squint		Very frequent - Broad alveolar ridge - Broad nasal root - Face / facial anomalies - Frontal bossing / prominent forehead - High vaulted / narrow palate - Hypertelorism - X-linked dominant inheritance Frequent - Anodontia / oligodontia / hypodontia - Anomalies of teeth and dentition - Clinodactyly of fifth finger - Clinodactyly of fingers 1,2,3,4 / overlapping fingers - Cone epiphyses / epiphysis - Downslanted palpebral fissures / anti-mongoloid slanting palpebral fissures - Facial structural asymmetry / facial hemiatrophy / facial hemihypertrophy - Osteoporosis / osteopenia / demineralisation / osteomalacia / rickets - Short foot / brachydactyly of toes - Skull / cranial anomalies - Small / triangular nares / nostrils - Syndactyly of fingers / interdigital palm - Thin / hypoplastic ala nasi Occasional - Abnormal hepatic enzymes / transaminases - Alopecia - Anomalies of bones / skeletal anomalies - Arterial aneurism (excluding aorta) - Brittle hair / distrix / trichorrhexis - Choanal atresia - Chronic arterial hypertension - Chronic / relapsing otitis - Coarse / thick hair - Corpus callosum / septum pellucidum total / partial agenesis - Dandy-Walker anomaly - Dental cysts / tumors - Dental malocclusion - Dry / squaly skin / exfoliation - Dystonia / torticollis / writer's cramp / blepharospasms - Enamel anomaly - Epicanthic folds - Flat cheek bones / malar hypoplasia - Follicular / erythematous / edematous papules / milium - Hearing loss / hypoacusia / deafness - Hypotrichosis / atrichia / atrichiasis / scalp hairlessness - Lip pits / fistulae - Megaureter / hydronephrosis / pyeloureteral junction syndrome - Micrognathia / retrognathia / micrognathism / retrognathism - Multicystic kidney / renal dysplasia - Pancreatic failure / exocrine pancreas disease - Polycystic liver disease / hepatic cysts - Postaxial polydactyly (hand) - Preaxial polydactyly (hand) - Proteinuria - Renal failure - Short hand / brachydactyly - Stillbirth / neonatal death - Structural anomalies of the pancreas - Tarsal anomaly / fusion / synostosis - Telecanthus / canthal dystopy