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Ravine syndrome

MedGen UID:: 907744
•Concept ID:: C4275006
•: Disease or Syndrome

Synonyms:	Progressive encephalopathy with severe infantile anorexia; progressive encephalopathy with severe infantile anorexia; RAVINE syndrome; ravine syndrome; Reunion island-anorexia-vomiting which is irrepressible-neurological signs syndrome
SNOMED CT:	Progressive encephalopathy with severe infantile anorexia (715794009); RAVINE syndrome (715794009)
Modes of inheritance:	Autosomal recessive inheritance MedGen UID: 141025 •Concept ID: C0441748 • Intellectual Product Source: Orphanet A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in individuals with two pathogenic alleles, either homozygotes (two copies of the same mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele). Autosomal recessive inheritance (Orphanet)

Monarch Initiative:	MONDO:0020505
Orphanet:	ORPHA99852

Definition

RAVINE syndrome is an extremely rare genetic neurological disorder reported in a small number of patients in a specific community on Reunion Island (France) with manifestation of infantile anorexia, irrepressible and repeated vomiting, acute brainstem dysfunction, severe failure to thrive, and progressive encephalopathy with MRI showing vanishing of posterior fossa along with supra-tentorial periventricular white-matter hyperintensities and basal ganglion anomalies. [from SNOMEDCT_US]

Term Hierarchy

GTR
MeSH

CClinical test, RResearch test, OOMIM, GGeneReviews, VClinVar

CROGVRavine syndrome

Congenital Systemic Disorder
- Abnormality of the nervous system
  - Abnormal nervous system morphology
    - Abnormal myelination
      - Abnormal CNS myelination
        Leukodystrophy
        Ravine syndrome

Professional guidelines

PubMed

Gene selection for the Australian Reproductive Genetic Carrier Screening Project ("Mackenzie's Mission").

Kirk EP, Ong R, Boggs K, Hardy T, Righetti S, Kamien B, Roscioli T, Amor DJ, Bakshi M, Chung CWT, Colley A, Jamieson RV, Liebelt J, Ma A, Pachter N, Rajagopalan S, Ravine A, Wilson M, Caruana J, Casella R, Davis M, Edwards S, Archibald A, McGaughran J, Newson AJ, Laing NG, Delatycki MB
Eur J Hum Genet 2021 Jan;29(1):79-87. Epub 2020 Jul 16 doi: 10.1038/s41431-020-0685-x. PMID: 32678339 Free PMC Article

Investigating genotype-phenotype relationships in Rett syndrome using an international data set.

Bebbington A, Anderson A, Ravine D, Fyfe S, Pineda M, de Klerk N, Ben-Zeev B, Yatawara N, Percy A, Kaufmann WE, Leonard H
Neurology 2008 Mar 11;70(11):868-75. doi: 10.1212/01.wnl.0000304752.50773.ec. PMID: 18332345

See all (2)

Recent clinical studies

Etiology

What does the nature of the MECP2 mutation tell us about parental origin and recurrence risk in Rett syndrome?

Zhang J, Bao X, Cao G, Jiang S, Zhu X, Lu H, Jia L, Pan H, Fehr S, Davis M, Leonard H, Ravine D, Wu X
Clin Genet 2012 Dec;82(6):526-33. Epub 2012 Jan 20 doi: 10.1111/j.1399-0004.2011.01838.x. PMID: 22182064

Valproate and risk of fracture in Rett syndrome.

Leonard H, Downs J, Jian L, Bebbington A, Jacoby P, Nagarajan L, Ravine D, Woodhead H
Arch Dis Child 2010 Jun;95(6):444-8. doi: 10.1136/adc.2008.148932. PMID: 20501539

Investigating genotype-phenotype relationships in Rett syndrome using an international data set.

The diagnosis of autism in a female: could it be Rett syndrome?

Young DJ, Bebbington A, Anderson A, Ravine D, Ellaway C, Kulkarni A, de Klerk N, Kaufmann WE, Leonard H
Eur J Pediatr 2008 Jun;167(6):661-9. Epub 2007 Aug 8 doi: 10.1007/s00431-007-0569-x. PMID: 17684768

p.R270X MECP2 mutation and mortality in Rett syndrome.

Jian L, Archer HL, Ravine D, Kerr A, de Klerk N, Christodoulou J, Bailey ME, Laurvick C, Leonard H
Eur J Hum Genet 2005 Nov;13(11):1235-8. doi: 10.1038/sj.ejhg.5201479. PMID: 16077729

See all (10)

Diagnosis

Posterior Ankle Impingement.

Theodoulou MH, Ravine M
Clin Podiatr Med Surg 2023 Jul;40(3):413-424. Epub 2023 Feb 16 doi: 10.1016/j.cpm.2022.12.002. PMID: 37236679

Lost in translation: translational interference from a recurrent mutation in exon 1 of MECP2.

Saxena A, de Lagarde D, Leonard H, Williamson SL, Vasudevan V, Christodoulou J, Thompson E, MacLeod P, Ravine D
J Med Genet 2006 Jun;43(6):470-7. Epub 2005 Sep 9 doi: 10.1136/jmg.2005.036244. PMID: 16155192 Free PMC Article

Review article: breaking new ground with Rett syndrome.

Kerr AM, Ravine D
J Intellect Disabil Res 2003 Nov;47(Pt 8):580-7. doi: 10.1046/j.1365-2788.2003.00506.x. PMID: 14641805

Nevoid basal cell carcinoma syndrome: review of 118 affected individuals.

Shanley S, Ratcliffe J, Hockey A, Haan E, Oley C, Ravine D, Martin N, Wicking C, Chenevix-Trench G
Am J Med Genet 1994 Apr 15;50(3):282-90. doi: 10.1002/ajmg.1320500312. PMID: 8042673

Espanto: a dialogue with the gods.

Tousignant M
Cult Med Psychiatry 1979 Dec;3(4):347-61. doi: 10.1007/BF00051463. PMID: 535409

See all (18)

Therapy

Valproate and risk of fracture in Rett syndrome.

Leonard H, Downs J, Jian L, Bebbington A, Jacoby P, Nagarajan L, Ravine D, Woodhead H
Arch Dis Child 2010 Jun;95(6):444-8. doi: 10.1136/adc.2008.148932. PMID: 20501539

Seizures in Rett syndrome: an overview from a one-year calendar study.

Jian L, Nagarajan L, de Klerk N, Ravine D, Christodoulou J, Leonard H
Eur J Paediatr Neurol 2007 Sep;11(5):310-7. Epub 2007 Apr 11 doi: 10.1016/j.ejpn.2007.02.008. PMID: 17433737 Free PMC Article

See all (2)

Prognosis

Mortality in women with turner syndrome in Great Britain: a national cohort study.

Schoemaker MJ, Swerdlow AJ, Higgins CD, Wright AF, Jacobs PA; United Kingdom Clinical Cytogenetics Group
J Clin Endocrinol Metab 2008 Dec;93(12):4735-42. Epub 2008 Sep 23 doi: 10.1210/jc.2008-1049. PMID: 18812477

The diagnosis of autism in a female: could it be Rett syndrome?

Correlation between clinical severity in patients with Rett syndrome with a p.R168X or p.T158M MECP2 mutation, and the direction and degree of skewing of X-chromosome inactivation.

Archer H, Evans J, Leonard H, Colvin L, Ravine D, Christodoulou J, Williamson S, Charman T, Bailey ME, Sampson J, de Klerk N, Clarke A
J Med Genet 2007 Feb;44(2):148-52. Epub 2006 Aug 11 doi: 10.1136/jmg.2006.045260. PMID: 16905679 Free PMC Article

Rett syndrome in Australia: a review of the epidemiology.

Laurvick CL, de Klerk N, Bower C, Christodoulou J, Ravine D, Ellaway C, Williamson S, Leonard H
J Pediatr 2006 Mar;148(3):347-52. doi: 10.1016/j.jpeds.2005.10.037. PMID: 16615965

Growth in Sotos syndrome.

Agwu JC, Shaw NJ, Kirk J, Chapman S, Ravine D, Cole TR
Arch Dis Child 1999 Apr;80(4):339-42. doi: 10.1136/adc.80.4.339. PMID: 10086939 Free PMC Article

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Clinical prediction guides

Updating the profile of C-terminal MECP2 deletions in Rett syndrome.

Bebbington A, Percy A, Christodoulou J, Ravine D, Ho G, Jacoby P, Anderson A, Pineda M, Ben Zeev B, Bahi-Buisson N, Smeets E, Leonard H
J Med Genet 2010 Apr;47(4):242-8. Epub 2009 Nov 12 doi: 10.1136/jmg.2009.072553. PMID: 19914908 Free PMC Article

Correlation between clinical severity in patients with Rett syndrome with a p.R168X or p.T158M MECP2 mutation, and the direction and degree of skewing of X-chromosome inactivation.

Predictors of seizure onset in Rett syndrome.

Jian L, Nagarajan L, de Klerk N, Ravine D, Bower C, Anderson A, Williamson S, Christodoulou J, Leonard H
J Pediatr 2006 Oct;149(4):542-7. doi: 10.1016/j.jpeds.2006.06.015. PMID: 17011329

p.R270X MECP2 mutation and mortality in Rett syndrome.

Jian L, Archer HL, Ravine D, Kerr A, de Klerk N, Christodoulou J, Bailey ME, Laurvick C, Leonard H
Eur J Hum Genet 2005 Nov;13(11):1235-8. doi: 10.1038/sj.ejhg.5201479. PMID: 16077729

Espanto: a dialogue with the gods.

Tousignant M
Cult Med Psychiatry 1979 Dec;3(4):347-61. doi: 10.1007/BF00051463. PMID: 535409

See all (6)

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Ravine syndrome

Definition

Term Hierarchy

Professional guidelines

PubMed

Recent clinical studies

Etiology

Diagnosis

Therapy

Prognosis

Clinical prediction guides

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