SETD2-related microcephaly-severe intellectual disability-multiple congenital anomalies syndrome
- Type
- Malformation syndrome
- Group
- Disorder
- Inheritance
- Autosomal dominant
- Age of onset
- Neonatal
- Status
- active
A rare genetic multiple congenital anomalies/dysmorphic syndrome characterized by microcephaly, severe global developmental delay and intellectual disability, hypotonia, respiratory insufficiency, failure to thrive, and congenital anomalies affecting the skeleton, eyes, and several organ systems. Seizures and hearing loss are sometimes observed. Independent ambulation and meaningful speech are not attained. Common dysmorphic facial features include small forehead, biparietal narrowing, flat face, hypertelorism, arched eyebrows, short, upslanting palpebral fissures, wide nasal bridge, small, upturned nose, forward facing ears, and micrognathia. Brain imaging shows structural abnormalities in all patients.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | SETD2-related microcephaly-severe intellectual disability-multiple congenital anomalies syndrome | |
| fr | Syndrome de microcéphalie-déficience intellectuelle sévère-anomalies congénitales multiples associé à SETD2 | |
| de | SETD2-assoziierte Mikrozephalie-schwere Intelligenzminderung-multiple kongenitale Anomalien-Syndrom | |
| es | Síndrome de microcefalia-discapacidad intelectual grave-anomalías congénitas múltiples asociado a SETD2 | |
| it | Sindrome da microcefalia, grave disabilità intellettiva e anomalie congenite multiple correlata a SETD2 | |
| nl | SETD2-gerelateerd syndroom van microcefalie - ernstige intellectuele achterstand - multipele congenitale anomalieën | |
| pt | Síndrome de microcefalia-perturbação do desenvolvimento intelectual grave-anomalias congénitas múltiplas SETD2-relacionada | |
| pl | Zespół małogłowia, znacznej niepełnosprawności intelektualnej oraz mnogich wad wrodzonych związany z SETD2 | |
| cs | Syndrom zahrnující mikrocefalii, těžkou mentální retardaci a vícečetné vrozené vady související s SETD2 | |
| uk | SETD2-повязаний синдром мікроцефалії-тяжкої розумової відсталості-множинних вроджених аномалій | |
| zh | SETD2-related microcephaly-severe intellectual disability-multiple congenital anomalies syndrome | |
| tr | SETD2-related microcephaly-severe intellectual disability-multiple congenital anomalies syndrome |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 620155 | BTNT | validated | |
| OMIM | 620157 | BTNT | validated | |
| ICD-10 | Q87.8 | NTBT | attributed | validated |
| ICD-11 | LD2F.1Y | NTBT | attributed | validated |
| MONDO | 0035706 | E | validated | |
| UMLS | C5681587 | 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 (6):
- 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:156532Rare syndrome with cardiac malformations
rare developmental anomalies during embryogenesis; rare cardiac malformations; rare genetic diseases - ORPHA:269528Syndrome with microcephaly as a major feature
rare developmental anomalies during embryogenesis; rare genetic diseases; rare neurological diseases - ORPHA:93547Syndromic renal or urinary tract malformation
rare developmental anomalies during embryogenesis; rare genetic diseases; rare renal diseases; rare transplant-related disorders - ORPHA:165707Syndromic urogenital tract malformation
rare developmental anomalies during embryogenesis; rare genetic diseases; rare urogenital diseases
No children.
Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| SETD2 | Disease-causing germline mutation(s) in | Assessed | HGNC:18420 | ENSG00000181555 | 612778 | 3p21.31 | SET domain containing 2, histone lysine methyltransferase | 32710489[PMID] |
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | 32710489[PMID] |
| Cases/families | 12 cases | Worldwide | Case(s) | Validated | 32710489[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
Orphanet has no HPO annotation for this code in this release.
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/597743
- This record as JSON: /data/d/597743.json