Tatton-Brown-Rahman syndrome
Synonyms: DNMT3A-related overgrowth syndrome · Tatton-Brown-Rahman overgrowth syndrome
- Type
- Malformation syndrome
- Group
- Disorder
- Inheritance
- Autosomal dominant
- Age of onset
- Neonatal
- Status
- active
A rare multiple congenital anomalies syndrome characterized by tall stature due to postnatal overgrowth, mild to moderate intellectual disability, joint hypermobility and subtle distinctive facial features, which often become apparent during adolescence (such as round face, low-set, thick horizontal eyebrows, narrow palpebral fissures and prominent upper-central incisors). Overweight, hypotonia, behavioral and psychiatric problems are common. Other clinical features may involve seizures, cryptorchidism and cardiovascular diseases (including congenital heart disease and aortic root dilatation).
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Tatton-Brown-Rahman syndrome | DNMT3A-related overgrowth syndrome · Tatton-Brown-Rahman overgrowth syndrome |
| fr | Syndrome de Tatton-Brown-Rahman | Syndrome de croissance excessive lié à DNMT3A |
| de | Tatton-Brown-Rahman-Syndrom | DNMT3A-abhängiges Großwuchs-Syndrom · Tatton-Brown-Rahman-Großwuchs-Syndrom |
| es | Síndrome de Tatton-Brown-Rahman | Síndrome de sobrecrecimiento asociado a DNMT3A · Síndrome de sobrecrecimiento de Tatton-Brown-Rahman |
| it | Sindrome alta statura-disabilità intellettiva-dismorfismi facciali | Sindrome da iperaccrescimento DNMT3A-correlato · Sindrome da iperaccrescimento di Tatton-Brown-Rahman |
| nl | Syndroom van Tatton-Brown-Rahman | DNMT3A-gerelateerd overgroeisyndroom · Overgroeisyndroom van Tatton-Brown-Rahman |
| pt | Síndrome Tatton-Brown-Rahman | |
| pl | Zespół wysoki wzrost-niepełnosprawność intelektualna-dysmorfia twarzy | Zespół przerostu zwiazany z DNMT3A |
| cs | Syndrom zahrnující vysoký vzrůst, mentální retardaci a faciální dysmorfismus | DNMT3A-vázaný syndrom nadměrného vzrůstu |
| uk | Синдром Таттона-Брауна-Рахмана | Синдром надмірного росту, повязаний з DNMT3A · Синдром надмірного росту Тейттона-Брауна-Рахмана |
| zh | 身材高大-智力障碍-面部畸形综合征 | 塔顿-布朗-拉赫曼过度生长综合征 |
| tr | Uzun boy-zihinsel yetersizlik-yüz dismorfizm sendromu | DNMT3A-ilişkili aşırı büyüme sendromu · Tatton-Brown-Rahman aşırı büyüme sendromu |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 615879 | E | validated | |
| ICD-10 | Q87.3 | NTBT | attributed | validated |
| ICD-11 | LD2C | NTBT | attributed | validated |
| MONDO | 0014382 | E | validated | |
| UMLS | C4014545 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (3):
- ORPHA:611327Genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability
rare genetic diseases - ORPHA:102283Multiple congenital anomalies/dysmorphic syndrome-intellectual disability
rare developmental anomalies during embryogenesis; rare neurological diseases - ORPHA:93460Overgrowth syndrome
rare developmental anomalies during embryogenesis; rare genetic diseases
No children.
Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| DNMT3A | Disease-causing germline mutation(s) in | Assessed | HGNC:2978 | ENSG00000119772 | 602769 | 2p23.3 | DNA methyltransferase 3 alpha | 24614070[PMID]_27701732[PMID] |
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 17 cases | Worldwide | Case(s) | Validated | 24614070[PMID]_27991732[PMID]_28941052[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_24614070[PMID]_27991732[PMID]_28941052[PMID] |
Value is Orphadata's ValMoy: the mean estimate per 100 000 for prevalence and incidence, the number of cases or families for case reports.
HPO phenotypes
40 annotations · validated 2019-07-29| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0000256 | Macrocephaly | |
| HP:0011407 | Proportionate tall stature | |
| Frequent (79-30%) | ||
| HP:0000708 | Atypical behavior | |
| HP:0008947 | Floppy infant | |
| HP:0002342 | Intellectual disability, moderate | |
| HP:0002751 | Kyphoscoliosis | |
| HP:0001513 | Obesity | |
| Occasional (29-5%) | ||
| HP:0000739 | Anxiety | |
| HP:0001631 | Atrial septal defect | |
| HP:0002308 | Chiari malformation | |
| HP:0000280 | Coarse facial features | |
| HP:0000028 | Cryptorchidism | |
| HP:0002376 | Developmental regression | |
| HP:0001256 | Intellectual disability, mild | |
| HP:0010864 | Intellectual disability, severe | |
| HP:0001382 | Joint hypermobility | |
| HP:0045025 | Narrow palpebral fissure | |
| HP:0000311 | Round face | |
| HP:0100753 | Schizophrenia | |
| HP:0001250 | Seizure | |
| HP:0001831 | Short toe | |
| HP:0000574 | Thick eyebrow | |
| HP:0002119 | Ventriculomegaly | |
| HP:0008094 | Widely spaced toes | |
| HP:0001566 | Widely-spaced maxillary central incisors | |
| Very rare (<4-1%) | ||
| HP:0000718 | Aggressive behavior | |
| HP:0002616 | Aortic root aneurysm | |
| HP:0007302 | Bipolar affective disorder | |
| HP:0002002 | Deep philtrum | |
| HP:0000316 | Hypertelorism | |
| HP:0000303 | Mandibular prognathia | |
| HP:0001653 | Mitral regurgitation | |
| HP:0012324 | Myeloid leukemia | |
| HP:0100634 | Neuroendocrine neoplasm | |
| HP:0001643 | Patent ductus arteriosus | |
| HP:0003508 | Proportionate short stature | |
| HP:0002000 | Short columella | |
| HP:0011688 | Supraventricular tachycardia with an accessory connection mediated pathway | |
| HP:0005180 | Tricuspid regurgitation | |
| HP:0001537 | Umbilical hernia | |
Run the differential on the 2 obligate / very frequent terms
Annotation source: 29900417[PMID]_31066180[PMID]_28941052[PMID]_27991732[PMID]_24614070[PMID]
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/404443
- This record as JSON: /data/d/404443.json