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Tatton-Brown-Rahman overgrowth syndrome

Synonyms
Tall stature-intellectual disability-facial dysmorphism syndrome; Tatton-Brown-rahman syndrome
Modes of inheritance
Autosomal dominant inheritance (Orphanet)

Summary

Excerpted from the GeneReview: Tatton-Brown-Rahman Syndrome
Tatton-Brown-Rahman syndrome (TBRS) is an overgrowth / intellectual disability syndrome characterized by length/height and/or head circumference ≥2 standard deviations above the mean for age and sex, obesity / increased weight, intellectual disability that ranges from mild to severe, joint hypermobility, hypotonia, behavioral/psychiatric issues, kyphoscoliosis, and seizures. Individuals with TBRS have subtle dysmorphic features, including a round face with coarse features, thick horizontal low-set eyebrows, narrow (as measured vertically) palpebral fissures, and prominent upper central incisors. The facial gestalt is most easily recognizable in the teenage years. TBRS may be associated with an increased risk of developing acute myeloid leukemia. There are less clear associations with aortic root dilatation and increased risk of other hematologic and solid tumors.
Full text of GeneReview (by section):
Summary
Diagnosis
Clinical Characteristics
Genetically Related (Allelic) Disorders
Differential Diagnosis
Management
Genetic Counseling
Resources
Molecular Genetics
Chapter Notes
References
Authors:
Philip J Ostrowski
Katrina Tatton-Brown
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Available tests

30 tests are in the database for this condition.

Check Related conditions for additional relevant tests.

Clinical tests (30 available)

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: DNMT3A2, HESJAS, M.HsaIIIA, TBRS, DNMT3A
    Summary: DNA methyltransferase 3 alpha

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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