Joubert syndrome

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Joubert syndrome
ICD-10 Q04.3
ICD-9 742.2
DiseasesDB 30688

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Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1] ; Associate Editor(s)-in-Chief: Vamsikrishna Gunnam M.B.B.S[2]

Synonyms and Keywords: Cerebelloparenchymal disorder 4; Cerebellar vermis agenesis; Joubert-Boltshauser syndrome; JBTS1; CPD4; Cerebellooculorenal syndrome 1; CORS1; Joubert syndrome 1

Overview

Joubert syndrome is a rare genetic disorder that affects the areas of the cerebellar vermis and brain stem in the brain that controls balance and coordination. Joubert syndrome follows autosomal recessive pattern of inheritance. In The United States of America in order to categorise a condition as a rare disease it should affect fewer than 200,000 people. Rare diseases also called as orphan diseases. Orphan Drug Act was passed on 1983 by congress for the rare diseases. Today an average of 25-30 million americans have been reported with rare diseases. The number of people with individual rare disease may be less but overall the number of people with rare diseases are large in number.

Historical perspective

  • In year 1955, the first reported cases of Joubert syndrome which are partial agenesis of the vermis of the cerebellum was collected by De Haene.[1]
  • In year 1969, Joubert syndrome was first discovered in in four siblings by Dr. Marie Joubert et al.[2][3]
  • In year 1977, Joubert syndrome name was first suggested by Boltshauser and Isler.
  • In year 1978, Friede and Boltshauser are the first to describe neuropathologic findings in one patient with joubert syndrome.[4][5]
  • In year 1978, Boltshauser et al are the first first to describe two sisters who are having joubert syndrome whose parents were consanguineous.[6][7]

Classification

  • Joubert syndrome may be classified according to gene location of the mutation into many subtypes of these JBTS1 and JBTS2 are the most common and important subtypes:[8][9][10]
Phenotype Location of mutation Gene involved Inheritance pattern
JOUBERT SYNDROME 1(JBTS1) 9q34.3 INPP5E Autosomal recessive
JOUBERT SYNDROME 2(JBTS2) 11q12.2 TMEM216 Autosomal recessive

Pathophysiology

INPP5E (Inositol polyphosphate-5-phosphatase E)

TMEM216(Transmembrane protein 216)

AHI1(Abelson Helper Integration Site 1)

NPHP1(Nephrocystin 1)

CEP290(Centrosomal protein 290)

TMEM67(Transmembrane protein 67) / MKS3(Transmembrane protein meckelin)

RPGRIP1L

ARL13B

CC2D2A

Causes

Genetic Causes

Differentiating joubert syndrome from other Diseases

Epidemiology and Demographics

Incidence

  • The incidence of joubert syndrome is approximately 1 per 80,000 individuals to 1 per 100,000 individuals worldwide.[58][59][60]
  • Till now only 200 cases of joubert syndrome were published in the literature.

Prevalence

  • The prevalence of joubert syndrome is approximately 1 per 100,000 in the United States.[61]

Age

  • Joubert syndrome commonly affects newborns in the first 6 months of life.

Risk Factors

Physical Examination

HEENT

Bilateral abducens nerve palsy
Bilateral abducens nerve palsy and developmental delay in joubert syndrome. Case courtesy by Javad Akhondian, MD Et Al[70]
Joubert syndrome patient with strabismus and large forehead
Joubert syndrome patient with strabismus (Yellow arrow) and a large forehead(Green arrow).Case courtesy by Javad Akhondian Et Al[71]
Joubert syndrome
Joubert syndrome-Broadened bridge of the nose and an open mouth. Case courtesy by Richa Arora Et Al [72]

Lungs

Neuromuscular

Natural History, Complications, and Prognosis

Natural History

Complications

Common complications of joubert syndrome include:[94]

Prognosis

Diagnostic Study of Choice

Joubert syndrome-Molar tooth sign(A), occipital encephalocele(B)
Joubert syndrome-Molar tooth sign(A), occipital encephalocele(B). case courtesy by Mohammed Z. Seidahmed Et Al [102]
Molar tooth sign
Molar tooth sign(A) and (B)hypoplasia of the cerebellar vermis (arrows). Case courtesy by Dr. Manohar M. Shroff Et Al[114]

Medical therapy

Surgery

References

  1. Stoffels, C.; Babin, E. (1976). "Angiography of incomplete lobulation of the cerebellar vermis with small fourth ventricle associated with callosal hypoplasia". Neuroradiology. 11 (2): 99–102. doi:10.1007/BF00345021. ISSN 0028-3940.
  2. Boltshauser E, Isler W (February 1977). "Joubert syndrome: episodic hyperpnea, abnormal eye movements, retardation and ataxia, associated with dysplasia of the cerebellar vermis". Neuropadiatrie. 8 (1): 57–66. doi:10.1055/s-0028-1091505. PMID 576733.
  3. Boltshauser, E.; Isler, W. (2008). "Joubert Syndrome: Episodic Hyperpnea, Abnormal Eye Movements, Retardation and Ataxia, Associated with Dysplasia of the Cerebellar Vermis". Neuropediatrics. 8 (01): 57–66. doi:10.1055/s-0028-1091505. ISSN 0174-304X.
  4. Friede RL, Boltshauser E (December 1978). "Uncommon syndromes of cerebellar vermis aplasia. I: Joubert syndrome". Dev Med Child Neurol. 20 (6): 758–63. PMID 729929.
  5. Friede, R. L.; Boltshauser, E. (2008). "Uncommon Syndromes of Cerebellar Vermis Aplasia. I: Joubert Syndrome". Developmental Medicine & Child Neurology. 20 (6): 758–763. doi:10.1111/j.1469-8749.1978.tb15307.x. ISSN 0012-1622.
  6. Al-Gazali L, Hamamy H (2014). "Consanguinity and dysmorphology in Arabs". Hum. Hered. 77 (1–4): 93–107. doi:10.1159/000360421. PMID 25060273.
  7. Al-Gazali L, Ali BR (May 2010). "Mutations of a country: a mutation review of single gene disorders in the United Arab Emirates (UAE)". Hum. Mutat. 31 (5): 505–20. doi:10.1002/humu.21232. PMID 20437613.
  8. Valente, Enza Maria; Marsh, Sarah E.; Castori, Marco; Dixon-Salazar, Tracy; Bertini, Enrico; Al-Gazali, Lihadh; Messer, Jean; Barbot, Clara; Woods, C. Geoffrey; Boltshauser, Eugen; Al-Tawari, Asma A.; Salpietro, Carmelo D.; Kayserili, Hulya; Sztriha, L�szl�; Gribaa, Moez; Koenig, Michel; Dallapiccola, Bruno; Gleeson, Joseph G. (2005). "Distinguishing the four genetic causes of jouberts syndrome-related disorders". Annals of Neurology. 57 (4): 513–519. doi:10.1002/ana.20422. ISSN 0364-5134. replacement character in |first14= at position 2 (help)
  9. Saraiva, Jorge M.; Baraitser, Michael (1992). "Joubert syndrome: A review". American Journal of Medical Genetics. 43 (4): 726–731. doi:10.1002/ajmg.1320430415. ISSN 0148-7299.
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  11. Parisi MA (November 2009). "Clinical and molecular features of Joubert syndrome and related disorders". Am J Med Genet C Semin Med Genet. 151C (4): 326–40. doi:10.1002/ajmg.c.30229. PMC 2797758. PMID 19876931.
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  37. Kroes HY, van Zon PH, Fransen van de Putte D, Nelen MR, Nievelstein RJ, Wittebol-Post D, van Nieuwenhuizen O, Mancini GM, van der Knaap MS, Kwee ML, Maas SM, Cobben JM, De Nef JE, Lindhout D, Sinke RJ (2008). "DNA analysis of AHI1, NPHP1 and CYCLIN D1 in Joubert syndrome patients from the Netherlands". Eur J Med Genet. 51 (1): 24–34. doi:10.1016/j.ejmg.2007.10.001. PMID 18054307.
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