Imagawa-Matsumoto syndrome
Synonyms: SUZ12-related overgrowth syndrome
- Type
- Malformation syndrome
- Group
- Disorder
- Inheritance
- Autosomal dominant
- Age of onset
- Antenatal, Neonatal
- Status
- active
A rare PRC-2 complex-related overgrowth spectrum disorder characterized by generalized pre- and post-natal overgrowth, dysmorphic features (including macrocephaly, prominent forehead, round face, hypertelorism, down-slanting palpebral fissures, and low and broad nasal bridge), intellectual disability, scoliosis, and excessive loose skin. While these clinical features are shared with other diseases-Weaver syndrome and Cohen-Gibson syndrome- in the spectrum), they are less prevalent. Retrognathia, hoarse/low-pitched cry and a low nasal bridge are usually absent.
Names in Orphadata languages
10 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Imagawa-Matsumoto syndrome | SUZ12-related overgrowth syndrome |
| fr | Syndrome de Imagawa-Matsumoto | Syndrome d'hypercroissance associé à SUZ12 |
| de | Imagawa-Matsumoto-Syndrom | SUZ12-assoziiertes Großwuchssyndrom |
| es | Síndrome de Imagawa-Matsumoto | Síndrome de sobrecrecimiento asociado a SUZ12 |
| it | Sindrome di Imagawa-Matsumoto | Sindrome da iperaccrescimento correlata a SUZ12 |
| nl | Syndroom van Imagawa-Matsumoto | SUZ12-gerelateerd overgroeisyndroom |
| pt | Síndrome Imagawa-Matsumoto | Síndrome de sobrecrescimento SUZ12-relacionada |
| pl | Zespół Imagawa-Matsumoto | = en |
| cs | Imagawové-Matsumotův syndrom | Imagawa-Matsumotův syndrom |
| uk | Синдром Імагави-Мацумото | Синдром надмірного росту, повязаний з SUZ12 |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 618786 | E | validated | |
| ICD-10 | Q87.3 | NTBT | attributed | validated |
| MONDO | 0032916 | E | validated | |
| MONDO | 32916 | E | validated | |
| UMLS | C5394073 | 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 (1):
- ORPHA:659387PRC-2 complex-related overgrowth spectrum
rare developmental anomalies during embryogenesis; rare genetic diseases; rare neurological diseases; rare bone diseases
No children.
Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| SUZ12 | Disease-causing germline mutation(s) in | Assessed | HGNC:17101 | ENSG00000178691 | 606245 | 17q11.2 | SUZ12 polycomb repressive complex 2 subunit | 30019515[PMID] |
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 15 cases | Worldwide | Case(s) | Validated | 28229514[PMID]_30019515[PMID]_31736240[PMID]_ 39258127[PMID]_38850627[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | 28229514[PMID]_30019515[PMID]_31736240[PMID]_ 39258127[PMID]_38850627[PMID]_ORPHANET |
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/659463
- This record as JSON: /data/d/659463.json