Microcephaly-microcornea syndrome, Seemanova type
Synonyms: Seemanova-Lesny syndrome
- Type
- Malformation syndrome
- Group
- Disorder
- Age of onset
- Infancy, Neonatal
- Status
- active
Microcephaly-microcornea syndrome, Seemanova type is characterised by microcephaly and brachycephaly, eye anomalies (microphthalmia, microcornea, congenital cataract), hypogenitalism, severe intellectual deficit, growth retardation and progressive spasticity. It has been described in two patients (a male and his sister's son). Both patients also presented with facial dysmorphism, including upslanting palpebral fissures, epicanthal folds, highly arched palate, microstomia, and retrognathia. This syndrome is transmitted as an X-linked trait.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Microcephaly-microcornea syndrome, Seemanova type | Seemanova-Lesny syndrome |
| fr | Microcéphalie-microcornée type Seemanova | Syndrome de Seemanova-Lesny |
| de | Mikrozephalie-Mikrokornea-Syndrom Typ Seemanova | Seemanova-Lesny-Syndrom |
| es | Síndrome de microcefalia-microcórnea, tipo Seemanova | |
| it | Sindrome microcefalia-microcornea, tipo Seemanova | Sindrome di Seemanova-Lesny |
| nl | Microcefalie - microcornea-syndroom, Seemanova-type | Syndroom van Seemanova-Lesny |
| pt | Síndrome microcefalia-microcórnea, tipo Seemanova | Síndrome Seemanova-Lesny |
| pl | Zespół małogłowia i rogówki małej typu Seemanova | Zespół Seemanova i Lesny |
| cs | Syndrom zahrnující mikrocefalii a mikrokorneu, typ Seemanové | Seemanové-Lesného syndrom |
| uk | Синдром мікроцефалії-мікрокорнеа, тип Сіманова | Синдром Семанова-Лесного |
| zh | 小头畸形-小角膜综合征Seemanova型 | Seemanova-Lesny综合征 |
| tr | Mikrosefali-mikrokornea sendromu, Seemanova tipi | Seemanova-Lesny sendromu |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| ICD-10 | Q87.8 | NTBT | attributed | validated |
| ICD-11 | LD20.2 | NTBT | index | validated |
| MONDO | 0016760 | E | validated | |
| MeSH | C537536 | E | validated | |
| UMLS | C2931524 | E | validated | |
| GARD | 3627 | 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 (5):
- 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:269528Syndrome with microcephaly as a major feature
rare developmental anomalies during embryogenesis; rare genetic diseases; rare neurological diseases - ORPHA:98641Syndromic cataract
rare ophthalmic disorders - ORPHA:522548Syndromic genetic cataract
rare genetic diseases
No children.
Genes
0 directOrphanet records no gene directly on this code.
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 2 cases | Worldwide | Case(s) | Validated | 8958326[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_8958326[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
15 annotations · validated 2016-06-01| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0000248 | Brachycephaly | |
| HP:0000518 | Cataract | |
| HP:0000286 | Epicanthus | |
| HP:0001510 | Growth delay | |
| HP:0000218 | High palate | |
| HP:0000135 | Hypogonadism | |
| HP:0010864 | Intellectual disability, severe | |
| HP:0000252 | Microcephaly | |
| HP:0000482 | Microcornea | |
| HP:0000568 | Microphthalmia | |
| HP:0000160 | Narrow mouth | |
| HP:0002191 | Progressive spasticity | |
| HP:0000278 | Retrognathia | |
| HP:0004322 | Short stature | |
| HP:0000582 | Upslanted palpebral fissure | |
Run the differential on the 12 obligate / very frequent terms
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/2528
- This record as JSON: /data/d/2528.json