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Revesz syndrome(DKCA5)

MedGen UID:
231230
Concept ID:
C1327916
Disease or Syndrome
Synonyms: DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 5; Exudative retinopathy with bone marrow failure
SNOMED CT: Revesz syndrome (723512008); Dyskeratosis congenita with bilateral exudative retinopathy (723512008); Retinopathy, anemia, central nervous system anomalies syndrome (723512008); Revesz DeBuse syndrome (723512008)
Modes of inheritance:
Autosomal dominant inheritance
MedGen UID:
141047
Concept ID:
C0443147
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 heterozygotes. In the context of medical genetics, an autosomal dominant disorder is caused when a single copy of the mutant allele is present. Males and females are affected equally, and can both transmit the disorder with a risk of 50% for each child of inheriting the mutant allele.
 
Gene (location): TINF2 (14q12)
 
Monarch Initiative: MONDO:0009990
OMIM®: 268130
Orphanet: ORPHA3088

Disease characteristics

Dyskeratosis congenita and related telomere biology disorders (DC/TBD) are caused by impaired telomere maintenance resulting in short or very short telomeres. The phenotypic spectrum of telomere biology disorders is broad and includes individuals with classic dyskeratosis congenita (DC) as well as those with very short telomeres and an isolated physical finding. Classic DC is characterized by a triad of dysplastic nails, lacy reticular pigmentation of the upper chest and/or neck, and oral leukoplakia, although this may not be present in all individuals. People with DC/TBD are at increased risk for progressive bone marrow failure (BMF), myelodysplastic syndrome or acute myelogenous leukemia, solid tumors (usually squamous cell carcinoma of the head/neck or anogenital cancer), and pulmonary fibrosis. Other findings can include eye abnormalities (epiphora, blepharitis, sparse eyelashes, ectropion, entropion, trichiasis), taurodontism, liver disease, gastrointestinal telangiectasias, and avascular necrosis of the hips or shoulders. Although most persons with DC/TBD have normal psychomotor development and normal neurologic function, significant developmental delay is present in both forms; additional findings include cerebellar hypoplasia (Hoyeraal Hreidarsson syndrome) and bilateral exudative retinopathy and intracranial calcifications (Revesz syndrome and Coats plus syndrome). Onset and progression of manifestations of DC/TBD vary: at the mild end of the spectrum are those who have only minimal physical findings with normal bone marrow function, and at the severe end are those who have the diagnostic triad and early-onset BMF. [from GeneReviews]
Authors:
Sharon A Savage  |  Marena R Niewisch   view full author information

Additional description

From OMIM
Revesz syndrome is a severe autosomal dominant bone marrow failure and cancer predisposition syndrome that includes the classical dyskeratosis congenita triad of oral leukoplakia, nail dystrophy, and abnormal skin pigmentation, with the additional feature of bilateral exudative retinopathy. Other features of Revesz syndrome include intrauterine growth retardation, intracranial calcification, and cerebellar hypoplasia (summary by Sasa et al., 2012). For a discussion of genetic heterogeneity of dyskeratosis congenita, see DKCA1 (127550).  http://www.omim.org/entry/268130

Clinical features

From HPO
Fetal growth restriction
MedGen UID:
4693
Concept ID:
C0015934
Pathologic Function
An abnormal restriction of fetal growth with fetal weight below the tenth percentile for gestational age.
Cerebellar ataxia
MedGen UID:
849
Concept ID:
C0007758
Disease or Syndrome
Cerebellar ataxia refers to ataxia due to dysfunction of the cerebellum. This causes a variety of elementary neurological deficits including asynergy (lack of coordination between muscles, limbs and joints), dysmetria (lack of ability to judge distances that can lead to under- or overshoot in grasping movements), and dysdiadochokinesia (inability to perform rapid movements requiring antagonizing muscle groups to be switched on and off repeatedly).
Cerebellar hypoplasia
MedGen UID:
120578
Concept ID:
C0266470
Congenital Abnormality
Cerebellar hypoplasia is a descriptive term implying a cerebellum with a reduced volume, but a normal shape and is stable over time.
Global developmental delay
MedGen UID:
107838
Concept ID:
C0557874
Finding
A delay in the achievement of motor or mental milestones in the domains of development of a child, including motor skills, speech and language, cognitive skills, and social and emotional skills. This term should only be used to describe children younger than five years of age.
Progressive neurologic deterioration
MedGen UID:
381506
Concept ID:
C1854838
Finding
Aplastic anemia
MedGen UID:
8063
Concept ID:
C0002874
Disease or Syndrome
Aplastic anemia is a serious disorder of the bone marrow that affects between 2 and 5 persons per million per year. About 75% of these cases are classified as idiopathic (Young, 2000). In about 15% of cases a drug or infection can be identified that precipitates the aplasia, although why only some individuals are susceptible is unclear. In about 5 to 10% of patients, the aplastic anemia is constitutional--i.e., is familial or presents with one or more associated somatic abnormalities (summary by Vulliamy et al., 2002).
Bone marrow hypocellularity
MedGen UID:
383749
Concept ID:
C1855710
Finding
A reduced number of hematopoietic cells present in the bone marrow relative to marrow fat.
Hypertonia
MedGen UID:
10132
Concept ID:
C0026826
Finding
A condition in which there is increased muscle tone so that arms or legs, for example, are stiff and difficult to move.
Cerebral calcification
MedGen UID:
124360
Concept ID:
C0270685
Finding
The presence of calcium deposition within the cerebrum.
Oral mucosa leukoplakia
MedGen UID:
9738
Concept ID:
C0023532
Neoplastic Process
A thickened white patch on the oral mucosa that cannot be rubbed off.
Nail pits
MedGen UID:
57463
Concept ID:
C0150993
Finding
Small (typically about 1 mm or less in size) depressions on the dorsal nail surface.
Nail dystrophy
MedGen UID:
66368
Concept ID:
C0221260
Disease or Syndrome
Onychodystrophy (nail dystrophy) refers to nail changes apart from changes of the color (nail dyschromia) and involves partial or complete disruption of the various keratinous layers of the nail plate.
Fine hair
MedGen UID:
98401
Concept ID:
C0423867
Finding
Hair that is fine or thin to the touch.
Ridged fingernail
MedGen UID:
340311
Concept ID:
C1849392
Finding
Longitudinal, linear prominences in the fingernail plate.
Fine, reticulate skin pigmentation
MedGen UID:
870383
Concept ID:
C4024828
Finding
Sparse hair
MedGen UID:
1790211
Concept ID:
C5551005
Finding
Reduced density of hairs.
Nystagmus
MedGen UID:
45166
Concept ID:
C0028738
Disease or Syndrome
Rhythmic, involuntary oscillations of one or both eyes related to abnormality in fixation, conjugate gaze, or vestibular mechanisms.
Leukocoria
MedGen UID:
57540
Concept ID:
C0152458
Disease or Syndrome
An abnormal white reflection from the pupil rather than the usual black reflection.
Exudative retinopathy
MedGen UID:
102319
Concept ID:
C0154832
Disease or Syndrome
Coats disease (CD) is an idiopathic disorder characterized by retinal telangiectasia with deposition of intraretinal or subretinal exudates, potentially leading to retinal detachment and unilateral blindness. CD is classically an isolated and unilateral condition affecting otherwise healthy young children.
Megalocornea
MedGen UID:
138008
Concept ID:
C0344530
Congenital Abnormality
Megalocornea is an inherited eye disorder in which the corneal diameter is bilaterally enlarged (greater than 13 mm) without an increase in intraocular pressure. It may also be referred to as 'anterior megalophthalmos,' since the entire anterior segment is larger than normal. Features of megalocornea in addition to a deep anterior chamber include astigmatic refractive errors, atrophy of the iris stroma, miosis secondary to decreased function of the dilator muscle, iridodonesis, and tremulousness, subluxation, or dislocation of the lens. Whereas most affected individuals exhibit normal ocular function, complications include cataract development and glaucoma following lenticular dislocation or subluxation. X-linked recessive inheritance is the most common pattern, accounting for the male preponderance of the disorder (summary by Skuta et al., 1983). Megalocornea sometimes occurs as part of the Marfan syndrome (154700). Genetic Heterogeneity of Megalocornea Autosomal recessive megalocornea has been reported (249300).
Short telomere length
MedGen UID:
1627435
Concept ID:
C4531138
Anatomical Abnormality
An abnormal reduction in telomere length. Telomeres are non-coding, repetitive sequences of DNA at the ends of the chromosomes of eukaryotic cells which become shorter as cells divide, and when telomere attrition reaches its limit, cell proliferation arrest, senescence, and apoptosis can occur.
Abnormality of chromosome stability
MedGen UID:
1631925
Concept ID:
C4551705
Cell or Molecular Dysfunction
A type of chromosomal aberration characterised by reduced resistance of chromosomes to change or deterioration.

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVRevesz syndrome
Follow this link to review classifications for Revesz syndrome in Orphanet.

Professional guidelines

PubMed

Tummala H, Walne A, Dokal I
Expert Rev Hematol 2022 Aug;15(8):685-696. Epub 2022 Aug 8 doi: 10.1080/17474086.2022.2108784. PMID: 35929966
Vieri M, Brümmendorf TH, Beier F
Best Pract Res Clin Haematol 2021 Jun;34(2):101282. Epub 2021 Jul 1 doi: 10.1016/j.beha.2021.101282. PMID: 34404536
Niewisch MR, Savage SA
Expert Rev Hematol 2019 Dec;12(12):1037-1052. Epub 2019 Sep 10 doi: 10.1080/17474086.2019.1662720. PMID: 31478401Free PMC Article

Recent clinical studies

Etiology

Vieri M, Brümmendorf TH, Beier F
Best Pract Res Clin Haematol 2021 Jun;34(2):101282. Epub 2021 Jul 1 doi: 10.1016/j.beha.2021.101282. PMID: 34404536
Niewisch MR, Savage SA
Expert Rev Hematol 2019 Dec;12(12):1037-1052. Epub 2019 Sep 10 doi: 10.1080/17474086.2019.1662720. PMID: 31478401Free PMC Article
Sharma A, Myers K, Ye Z, D'Orazio J
Pediatr Blood Cancer 2014 Dec;61(12):2302-4. Epub 2014 Jul 25 doi: 10.1002/pbc.25161. PMID: 25067791Free PMC Article
McElnea EM, van der Spek N, Smith O, Fitzsimon S, Patel CK, O'Marcaigh A
J AAPOS 2013 Dec;17(6):634-6. doi: 10.1016/j.jaapos.2013.07.016. PMID: 24321428
Ballew BJ, Savage SA
Expert Rev Hematol 2013 Jun;6(3):327-37. doi: 10.1586/ehm.13.23. PMID: 23782086

Diagnosis

Tummala H, Walne A, Dokal I
Expert Rev Hematol 2022 Aug;15(8):685-696. Epub 2022 Aug 8 doi: 10.1080/17474086.2022.2108784. PMID: 35929966
Agrawal S, Shanmugam PM, Shah PN, Mishra DK, Ramanjulu R
Ophthalmic Surg Lasers Imaging Retina 2022 Jun;53(6):346-348. Epub 2022 Jun 1 doi: 10.3928/23258160-20220421-01. PMID: 35724369
Niewisch MR, Savage SA
Expert Rev Hematol 2019 Dec;12(12):1037-1052. Epub 2019 Sep 10 doi: 10.1080/17474086.2019.1662720. PMID: 31478401Free PMC Article
Savage SA
Prog Mol Biol Transl Sci 2014;125:41-66. doi: 10.1016/B978-0-12-397898-1.00002-5. PMID: 24993697
Riyaz A, Riyaz N, Jayakrishnan MP, Mohamed Shiras PT, Ajith Kumar VT, Ajith BS
Indian J Pediatr 2007 Sep;74(9):862-3. doi: 10.1007/s12098-007-0155-2. PMID: 17901676

Prognosis

Himes RW, Chiou EH, Queliza K, Shouval DS, Somech R, Agarwal S, Jajoo K, Ziegler DS, Kratz CP, Huang J, Lucas TL, Myers KC, Nelson AS, DiNardo CD, Alter BP, Giri N, Khincha PP, McReynolds LJ, Dufour C, Pierri F, Goldman FD, Sherif Y, Savage SA, Miloh T, Bertuch AA
J Pediatr 2021 Mar;230:55-61.e4. Epub 2020 Sep 21 doi: 10.1016/j.jpeds.2020.09.038. PMID: 32971146
Karremann M, Neumaier-Probst E, Schlichtenbrede F, Beier F, Brümmendorf TH, Cremer FW, Bader P, Dürken M
Orphanet J Rare Dis 2020 Oct 23;15(1):299. doi: 10.1186/s13023-020-01553-y. PMID: 33097095Free PMC Article
Sharma A, Myers K, Ye Z, D'Orazio J
Pediatr Blood Cancer 2014 Dec;61(12):2302-4. Epub 2014 Jul 25 doi: 10.1002/pbc.25161. PMID: 25067791Free PMC Article
Negrón D, Colón-Castillo L, Morales-Melecio I, Correa-Rivas M
Pediatr Dev Pathol 2008 Mar-Apr;11(2):148-51. Epub 2007 Jun 7 doi: 10.2350/06-03-0061.1. PMID: 17990901
Riyaz A, Riyaz N, Jayakrishnan MP, Mohamed Shiras PT, Ajith Kumar VT, Ajith BS
Indian J Pediatr 2007 Sep;74(9):862-3. doi: 10.1007/s12098-007-0155-2. PMID: 17901676

Clinical prediction guides

Vieri M, Brümmendorf TH, Beier F
Best Pract Res Clin Haematol 2021 Jun;34(2):101282. Epub 2021 Jul 1 doi: 10.1016/j.beha.2021.101282. PMID: 34404536
Polvi A, Linnankivi T, Kivelä T, Herva R, Keating JP, Mäkitie O, Pareyson D, Vainionpää L, Lahtinen J, Hovatta I, Pihko H, Lehesjoki AE
Am J Hum Genet 2012 Mar 9;90(3):540-9. Epub 2012 Mar 1 doi: 10.1016/j.ajhg.2012.02.002. PMID: 22387016Free PMC Article
Sasa GS, Ribes-Zamora A, Nelson ND, Bertuch AA
Clin Genet 2012 May;81(5):470-8. Epub 2011 Apr 7 doi: 10.1111/j.1399-0004.2011.01658.x. PMID: 21477109Free PMC Article

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