====== Joubert Syndrome ======
==== Main Features ====
  * Cerebellar vermis hypoplasia or aplasia
  * episodic tachypnea ("panting like a dog") and apnea in infancy
  * jerky eye movements, hypotonia, developmental delay
==== Eye Findings ====
  * **Ocular Motor Abnormalities**
    * Absent smooth pursuit
    * Hypometric saccades with prolonged latency; they change direction of fixation by turning their heads
    * Nystagmus – pendular, rotary, horizontal, see-saw, torsional
  * **Congenital Retinal Dystrophy** (in majority of patients; some definitely have normal appearing fundi)
    * Progressive chorioretinal pigmentary changes including reports of "mottling" in periphery
    * Chorioretinal Coloboma
    * Attenuation of retinal arterioles
    * Nonrecordable / attenuated ERG, but Preserved flash and pattern VEPs (Differentiates from LCA)
    * Rod photoreceptors are more severely affected than cones
    * May have good Best Corrected Visual Acuity – reports of 20/40 (also better than LCA)
    * Those with Retinal dystrophy also have Renal cysts and other kidney disease
  * Ptosis – Bilateral or Unilateral
  * Strabismus
  * Supranuclear Ocular motor palsies
=== Differentiating Joubert’s from Leber’s Congenital Amaurosis ===
  * Both have nonrecordable or severely attenuated ERG, but Joubert’s has recordable (less than normal) flash and pattern VEPs
  * Joubert’s generally has better Visual acuity
==== Etiology ====
  * Autosomal Recessive
  * First described in 1969, by 1991, 94 patients reported
  * More commonly reported in cultures of consanguinity, although distributed worldwide
==== Other Findings ====
  * Neuro: Mental retardation, ataxia
  * Respiratory: Episodic tachypnea and apnea that improves with age
  * Renal: Renal cysts, inflammation, sclerosis, can be deadly
  * GI: protruding tongue, tongue tumors, pyloric stenosis, duodenal atresia, hepatic inflammation
  * Bone: Polydactyly
==== References ====
  * Lambert, et al. Arch Ophth 1989;107:709-713
  * Sztriha, et al. Ped Neurol 1999; 20:274-281
  * Saraiva, Am J of Med Genetics 1992; 43:726-731
  * OMIM [[http://omim.org/entry/213300|213300]], [[http://omim.org/entry/608091|608091]]

{{tag>Syndrome}}