Tatton-Brown-Rahman overgrowth syndrome
Findings
No curated finding names Tatton-Brown-Rahman overgrowth syndrome yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
A rare multiple congenital anomalies syndrome characterized by greater height, mild to moderate intellectual disability and distinctive facial appearance like round face, heavy, horizontal eyebrows and narrow palpebral fissures.
Definition from the Mondo Disease Ontology (MONDO:0014382), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal dominant inheritance
- Onset and course
- Congenital onset
HPO, annotations 2026-09-02
Features
61 features
What the disease is reported to present with, and how often among people who have it — never how often a feature means the disease. HPO, annotations 2026-09-02.
- Anteverted naresHPOHP:0000463
- 1 of 1 reported patient
- Chiari type I malformationHPOHP:0007099
- 1 of 1 reported patient
- Deep philtrumHPOHP:0002002
- 1 of 1 reported patient
- Very rare (1% to 4% of cases)
- EpicanthusHPOHP:0000286
- 1 of 1 reported patient
- Everted upper lip vermilionHPOHP:0010803
- 1 of 1 reported patient
- Exaggerated cupid's bowHPOHP:0002263
- 1 of 1 reported patient
- Febrile seizure (within the age range of 3 months to 6 years)
Show the remaining 49
- Intellectual disabilityHPOHP:0001249
- 13 of 13 reported patients
- Narrow palpebral fissureHPOHP:0045025
- 11 of 11 reported patients
- Occasional (5% to 29% of cases)
- OvergrowthHPOHP:0001548
- 1 of 1 reported patient
- Round faceHPOHP:0000311
- 11 of 11 reported patients
- Occasional (5% to 29% of cases)
- Short columellaHPOHP:0002000
- 1 of 1 reported patient
- Very rare (1% to 4% of cases)
- Talipes valgusHPOHP:0004684
Genes
1 gene
Germline variants in the gene encoding each protein, as classified by GenCC submitters, each in their own words. Limited, disputed and refuted submissions are listed too.
- DNMT3AHGNC:2978
- Definitive · Ambry Genetics · Autosomal dominant · 2023
- Definitive · ClinGen · Autosomal dominant · 2023
- Definitive · Illumina · Autosomal dominant · 2020
- Definitive · G2P · Autosomal dominant · 2025
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal dominant · 2023
- Strong · PanelApp Australia · Autosomal dominant · 2025
- Supportive · Orphanet · Autosomal dominant · 2021
Where it sits
Other names
2 names
Resolves to: Tatton-Brown-Rahman overgrowth syndrome
- Also called
- DNMT3A-related overgrowth syndrometall stature-intellectual disability-facial dysmorphism syndrome