Craniosynostosis-microretrognathia-severe intellectual disability syndrome
- Type
- Malformation syndrome
- Group
- Disorder
- Inheritance
- Autosomal dominant
- Age of onset
- Antenatal, Neonatal
- Status
- active
A rare genetic multiple congenital anomalies/dysmorphic syndrome characterized by developmental delay, moderate to severe intellectual disability, dysmorphic features including craniosynostosis, micro-/retrognathia, cleft palate, and brachydactyly, and short stature. Seizures, skeletal anomalies (such as arthrogryposis, gracile bones, and pathological fractures), and renal abnormalities have also been described. Cerebral MRI may show periventricular white matter changes and ventriculomegaly.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Craniosynostosis-microretrognathia-severe intellectual disability syndrome | |
| fr | Syndrome de craniosynostose-microrétrognathie-déficience intellectuelle sévère | |
| de | Kraniosynostose-Mikroretrognathie-schwere Intelligenzminderung-Syndrom | |
| es | Síndrome de craneosinostosis-microrretrognatia-discapacidad intelectual grave | |
| it | Sindrome da craniosinostosi, microretrognazia, disabilità intellettiva grave | |
| nl | Craniosynostose - microretrognathie - ernstige intellectuele achterstand-syndroom | |
| pt | Síndrome de craniossinostose-microrretrognatia-perturbação do desenvolvimento intelectual grave | |
| pl | Zespół kraniosynostozy, mikroretrognacji i ciężkiej niepełnosprawności intelektualnej | |
| cs | Syndrom zahrnující kraniosynostózu, mikroretrognatii a těžké mentální postižení | |
| uk | Синдром краніосиностозу-мікроретрогнатії-тяжкої інтелектуальної недостатності | |
| zh | 颅缝早闭-下颌微缩-严重智力障碍综合征 | |
| tr | Kraniosinostozis-mikroretrognati-ağır zihinsel yetersizlik sendromu |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 618265 | E | validated | |
| ICD-10 | Q87.8 | NTBT | attributed | validated |
| MONDO | 0032642 | E | validated | |
| UMLS | C5780021 | 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 (4):
- ORPHA:611327Genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability
rare genetic diseases - ORPHA:166472Monogenic disease with epilepsy
rare genetic diseases; rare neurological diseases - ORPHA:102283Multiple congenital anomalies/dysmorphic syndrome-intellectual disability
rare developmental anomalies during embryogenesis; rare neurological diseases - ORPHA:139393Syndromic craniosynostosis
rare developmental anomalies during embryogenesis; rare genetic diseases; rare bone diseases
No children.
Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| PPP3CA | Disease-causing germline mutation(s) in | Assessed | HGNC:9314 | ENSG00000138814 | 114105 | 4q24 | protein phosphatase 3 catalytic subunit alpha | 29432562[PMID]_28942967[PMID]_30254215[PMID]_30455226[PMID] |
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 3 cases | Worldwide | Case(s) | Validated | 29432562[PMID]_30254215[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_29432562[PMID]_30254215[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/565858
- This record as JSON: /data/d/565858.json