Revesz Syndrome

Description

Revesz syndrome is a rare severe phenotypic variant of dyskeratosis congenita (DC; see this term) with an onset in early childhood, characterized by features of DC (e.g. skin hyper/hypopigmentation, nail dystrophy, oral leukoplakia, high risk of bone marrow failure (BMF) and cancer, developmental delay sparse and fine hair) in conjunction with bilateral exudative retinopathy, and intracranial calcifications.

Clinical Features

Top most frequent phenotypes and symptoms related to Revesz Syndrome

  • Global developmental delay
  • Ataxia
  • Growth delay
  • Nystagmus
  • Anemia
  • Intrauterine growth retardation
  • Hypertonia
  • Abnormality of metabolism/homeostasis
  • Cerebellar hypoplasia
  • Sparse hair

And another 18 symptoms. If you need more information about this disease we can help you.

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Incidence and onset information

— Currently we don't have prevalence information about this disease (Not enough data available about incidence and published cases.)
No data available about the known clinical features onset.

Alternative names

Revesz Syndrome Is also known as exudative retinopathy with bone marrow failure, dkca5, dyskeratosis congenita, autosomal dominant 5, dyskeratosis congenita with bilateral exudative retinopathy, retinopathy-anemia-central nervous system anomalies syndrome, revesz-debuse syndrome.

Researches and researchers

Currently, we don't have any information about doctors, researches or researchers related to this disease. Please contact us if you would like to appear here.


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Revesz Syndrome Recommended genes panels

Panel Name, Specifity and genes Tested/covered
TINF2 Sequence Analysis.

By Baylor Miraca Genetics Laboratories (United States).

TINF2
Specificity
100 %
Genes
100 %
TINF2 Sequence Analysis (Familial Mutation/Variant Analysis).

By Baylor Miraca Genetics Laboratories (United States).

TINF2
Specificity
100 %
Genes
100 %
TINF2 Sequence Analysis (Prenatal Diagnosis).

By Baylor Miraca Genetics Laboratories (United States).

TINF2
Specificity
100 %
Genes
100 %
Comprehensive Pulmonary Panel.

By Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center (United States).

RPGR, SCNN1A, SCNN1B, SCNN1G, BMPR1B, BMPR2, SFTPA1, SFTPA2, SFTPB, SFTPC, SFTPD, SLC7A7, SPAG1, STAT3, TERC, TERT, TINF2, NKX2-1, TSC1, TSC2 , (...)

View the complete list with 73 more genes
Specificity
2 %
Genes
100 %
Hermansky-Pudlak and Pulmonary Fibrosis Panel.

By Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center (United States).

SFTPA1, SFTPA2, SFTPB, SFTPC, SFTPD, TERC, TERT, TINF2, NKX2-1, HPS3, HPS4, RTEL1, HPS5, DTNBP1, HPS6, BLOC1S3, CSF2RA, ELMOD2, DKC1, ABCA3 , (...)

View the complete list with 5 more genes
Specificity
4 %
Genes
100 %
Diffuse Lung Disease NGS Panel.

By Johns Hopkins DNA Diagnostic Laboratory Johns Hopkins Hospital (United States).

SFTPA2, SFTPB, SFTPC, SLC7A7, TERC, TERT, TINF2, NKX2-1, HPS4, CSF2RA, CSF2RB, DKC1, ABCA3, FOXF1, HPS1, AP3B1
Specificity
7 %
Genes
100 %
Telomere Shortening Disorders Spectrum NGS Panel.

By Johns Hopkins DNA Diagnostic Laboratory Johns Hopkins Hospital (United States).

TERC, TERT, TINF2, NHP2, NOP10, WRAP53, CTC1, DKC1
Specificity
13 %
Genes
100 %
Idiopathic Pulmonary Fibrosis NGS Panel.

By Johns Hopkins DNA Diagnostic Laboratory Johns Hopkins Hospital (United States).

SFTPA2, SFTPC, TERC, TERT, TINF2, NKX2-1, HPS4, DKC1, ABCA3, HPS1, AP3B1
Specificity
10 %
Genes
100 %

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Sources and references

You can check the following sources for additional information.

OMIM ORPHANET MESH Rare Disease Search Engine

If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like USHER SYNDROME, TYPE ID; USH1D MENTAL RETARDATION, X-LINKED, SYNDROMIC, BORCK TYPE; MRXSBRK

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