Indication
This is a clinical test intended for HelpPurposes or indications for the test. Lab-provided.: Diagnosis, Mutation Confirmation
Classic Joubert syndrome (JS) is characterized by three primary findings: A distinctive cerebellar and brain stem malformation called the molar tooth sign (MTS). Hypotonia. Developmental delays. Often these findings are accompanied by episodic tachypnea or apnea and/or atypical eye movements. In general, the breathing abnormalities improve with age, truncal ataxia develops over time, and acquisition of gross motor milestones is delayed. Cognitive abilities are variable, ranging from severe intellectual disability to normal. Additional findings can include retinal dystrophy, renal disease, ocular colobomas, occipital encephalocele, hepatic fibrosis, polydactyly, oral hamartomas, and endocrine abnormalities. Both intra- and interfamilial variation are seen.
- Anal atresia
- Cleft upper lip
- Congenital ocular coloboma
- Cryptorchidism
- Abnormal cardiac septum morphology
- Inguinal hernia
- Umbilical hernia
- Hypertelorism
- Wide mouth
- Narrow mouth
- Hypotonia
- Nystagmus
- Optic atrophy
- Rectovaginal fistula
- Seizure
- Intellectual disability, severe
- Excessive salivation
- Strabismus
- Hypopigmentation of the fundus
- Corpus callosum, agenesis of
- Finger syndactyly
- Frontal bossing
- Brachydactyly
- Hypoplasia of teeth
- Low-set ears
- Open mouth
- High palate
- Protruding tongue
- Toe syndactyly
- Persistence of primary teeth
- Gingival overgrowth
- Mandibular prognathia
- Downslanted palpebral fissures
- Tapered finger
- Posteriorly rotated ears
- Postaxial hand polydactyly
- Growth delay
- Thin vermilion border
- Epicanthus
- Hypospadias
- Abnormal pinna morphology
- Smooth philtrum
- Hearing impairment
- Preaxial hand polydactyly
- Thick vermilion border
- Prominent forehead
- Microretrognathia
- Alveolar process hypoplasia
- Broad forehead
- Triangular mouth
- Wide nasal bridge
- Clinodactyly of the 5th finger
- Exaggerated cupid bow
- Prominent occiput
- Short nose
- Generalized hypotonia
- Postnatal growth retardation
- Bifid distal phalanx of the thumb
- Duplication of phalanx of hallux
- Pulmonary valve defects
- Preauricular skin tag
- Short philtrum
- Aplasia/Hypoplasia of the corpus callosum
- Long philtrum
- Wide anterior fontanel
- Downturned corners of mouth
- Postaxial foot polydactyly
- Preaxial foot polydactyly
- Macrocephaly
- Failure to thrive
- Cleft palate
- Abnormal pulmonary valve morphology
- Intellectual disability
- Intracranial cystic lesion
- Prominent palatine ridges
- Duplication of thumb phalanx
- Everted upper lip vermilion
- Abnormal oral frenulum morphology
- Bifid uvula
- Micropenis
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Autosomal recessive inheritance
Not provided
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