Revesz syndrome
- Synonyms
- DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 5; Exudative retinopathy with bone marrow failure
- Modes of inheritance
- Autosomal dominant inheritance (Orphanet)
Summary
Excerpted from the GeneReview:- Full text of GeneReview (by section):
- Summary
- GeneReview Scope
- Diagnosis
- Clinical Characteristics
- Genetically Related (Allelic) Disorders
- Differential Diagnosis
- Management
- Genetic Counseling
- Resources
- Molecular Genetics
- Chapter Notes
- References
- Authors:
- Sharon A Savage
- Marena R Niewisch
- view full author information
Available tests
Check Related conditions for additional relevant tests.
Clinical tests (44 available)
Clinical features
Help- Abnormal cellular phenotype
- Short telomere length
Short telomere length
- MedGen UID: 1627435
- Concept ID: C4531138
- Finding: Anatomical Abnormality
Abnormal cellular phenotype
- Short telomere length
- Abnormality of blood and blood-forming tissues
- Aplastic anemia
Aplastic anemia
- MedGen UID: 8063
- Concept ID: C0002874
- Finding: Disease or Syndrome
Abnormality of blood and blood-forming tissues
- Bone marrow hypocellularity
Bone marrow hypocellularity
- MedGen UID: 383749
- Concept ID: C1855710
- Finding: Finding
Abnormality of blood and blood-forming tissues
- Macrocytic anemia
Macrocytic anemia
- MedGen UID: 1920
- Concept ID: C0002886
- Finding: Disease or Syndrome
Abnormality of blood and blood-forming tissues
- Aplastic anemia
- Abnormality of head or neck
- Oral mucosa leukoplakia
Oral mucosa leukoplakia
- MedGen UID: 9738
- Concept ID: C0023532
- Finding: Neoplastic Process
Abnormality of head or neck
- Oral mucosa leukoplakia
- Abnormality of the eye
- Exudative retinopathy
Exudative retinopathy
- MedGen UID: 102319
- Concept ID: C0154832
- Finding: Disease or Syndrome
Abnormality of the eye
- Leukocoria
Leukocoria
- MedGen UID: 57540
- Concept ID: C0152458
- Finding: Disease or Syndrome
Abnormality of the eye
- Megalocornea
Megalocornea
- MedGen UID: 138008
- Concept ID: C0344530
- Finding: Congenital Abnormality
Abnormality of the eye
- Nystagmus
Nystagmus
- MedGen UID: 45166
- Concept ID: C0028738
- Finding: Disease or Syndrome
Abnormality of the eye
- Visual loss
Visual loss
- MedGen UID: 784038
- Concept ID: C3665386
- Finding: Finding
Abnormality of the eye
- Exudative retinopathy
- Abnormality of the immune system
- Neutropenia
Neutropenia
- MedGen UID: 163121
- Concept ID: C0853697
- Finding: Finding
Abnormality of the immune system
- Neutropenia
- Abnormality of the integument
- Fine hair
Fine hair
- MedGen UID: 98401
- Concept ID: C0423867
- Finding: Finding
Abnormality of the integument
- Fine, reticulate skin pigmentation
Fine, reticulate skin pigmentation
- MedGen UID: 870383
- Concept ID: C4024828
- Finding: Finding
Abnormality of the integument
- Nail dystrophy
Nail dystrophy
- MedGen UID: 66368
- Concept ID: C0221260
- Finding: Disease or Syndrome
Abnormality of the integument
- Nail pits
Nail pits
- MedGen UID: 57463
- Concept ID: C0150993
- Finding: Finding
Abnormality of the integument
- Ridged fingernail
Ridged fingernail
- MedGen UID: 340311
- Concept ID: C1849392
- Finding: Finding
Abnormality of the integument
- Sparse hair
Sparse hair
- MedGen UID: 1790211
- Concept ID: C5551005
- Finding: Finding
Abnormality of the integument
- Fine hair
- Abnormality of the musculoskeletal system
- Cerebral calcification
Cerebral calcification
- MedGen UID: 124360
- Concept ID: C0270685
- Finding: Finding
Abnormality of the musculoskeletal system
- Hypertonia
Hypertonia
- MedGen UID: 10132
- Concept ID: C0026826
- Finding: Finding
Abnormality of the musculoskeletal system
- Microcephaly
Microcephaly
- MedGen UID: 1644158
- Concept ID: C4551563
- Finding: Finding
Abnormality of the musculoskeletal system
- Cerebral calcification
- Abnormality of the nervous system
- Broad-based gait
Broad-based gait
- MedGen UID: 167799
- Concept ID: C0856863
- Finding: Finding
Abnormality of the nervous system
- Cerebellar ataxia
Cerebellar ataxia
- MedGen UID: 849
- Concept ID: C0007758
- Finding: Disease or Syndrome
Abnormality of the nervous system
- Cerebellar hypoplasia
Cerebellar hypoplasia
- MedGen UID: 120578
- Concept ID: C0266470
- Finding: Congenital Abnormality
Abnormality of the nervous system
- Global developmental delay
Global developmental delay
- MedGen UID: 107838
- Concept ID: C0557874
- Finding: Finding
Abnormality of the nervous system
- Poor coordination
Poor coordination
- MedGen UID: 107874
- Concept ID: C0563243
- Finding: Finding
Abnormality of the nervous system
- Progressive neurologic deterioration
Progressive neurologic deterioration
- MedGen UID: 381506
- Concept ID: C1854838
- Finding: Finding
Abnormality of the nervous system
- Broad-based gait
- Growth abnormality
- Fetal growth restriction
Fetal growth restriction
- MedGen UID: 4693
- Concept ID: C0015934
- Finding: Pathologic Function
Growth abnormality
- Fetal growth restriction
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