X-linked intellectual disability-plagiocephaly syndrome
historical
Synonyms: Hyde Forster-McCarthy-Berry syndrome
- Type
- Malformation syndrome
- Group
- Disorder
- Inheritance
- X-linked recessive
- Age of onset
- Infancy, Neonatal
- Status
- historical
A rare, syndromic intellectual disability characterized by severe intellectual deficit, brachycephaly, plagiocephaly, and prominent forehead in male patients. Females may display moderate intellectual deficit without craniofacial dysmorphism. There have been no further descriptions in the literature since 1992.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | X-linked intellectual disability-plagiocephaly syndrome | Hyde Forster-McCarthy-Berry syndrome |
| fr | Syndrome de déficience intellectuelle liée à l'X-plagiocéphalie | Syndrome de Hyde Forster-McCarthy-Berry |
| de | X-chromosomale Intelligenzminderung-Plagiozephalie-Syndrom | Hyde-Forster-McCarthy-Berry-Syndrom |
| es | Síndrome de discapacidad intelectual-plagiocefalia ligado al cromosoma X | Síndrome de Hyde Forster-McCarthy-Berry |
| it | Sindrome disabilità intellettiva legata all'X-plagiocefalia | Sindrome di Hyde Forster-McCarthy-Berry |
| nl | X-gebonden intellectuele achterstand - plagiocefalie-syndroom | Syndroom van Hyde Forster-McCarthy-Berry |
| pt | Síndrome de perturbação do desenvolvimento intelectual-plagiocefalia ligada ao X | Síndrome Hyde Forster-McCarthy-Berry |
| pl | Niepełnosprawność intelektualna sprzężona z płcią - plagiocefalia | Zespół Hyde Forster, McCarthy'ego i Berry |
| cs | Syndrom zahrnující X-vázanou mentální retardaci a plagiocefalii | Hyde Forsterův-McCarthyho-Berryho syndrom · Hyde Forster-McCarthy-Berryho syndrom |
| uk | Синдром Х-зчепленої інтелектуальної недостатності-плагіоцефалії | Синдром Гайда-Форстера-Маккарті-Бері |
| zh | X连锁智力障碍-斜颈畸形综合征 | Hyde Forster-McCarthy-Berry 综合征 |
| tr | X'e bağlı zihinsel yetersizlik-plajiyosefali sendromu | Hyde Forster-McCarthy-Berry sendromu |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 300064 | E | validated | |
| ICD-10 | Q87.0 | NTBT | attributed | validated |
| MONDO | 0010237 | E | validated | |
| MeSH | C537512 | E | validated | |
| UMLS | C2931516 | E | validated | |
| GARD | 2765 | 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:139393Syndromic craniosynostosis
rare developmental anomalies during embryogenesis; rare genetic diseases; rare bone 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 | 1433236[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_1433236[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
14 annotations · validated 2017-10-18| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Frequent (79-30%) | ||
| HP:0000248 | Brachycephaly | |
| HP:0001662 | Bradycardia | |
| HP:0000280 | Coarse facial features | |
| HP:0001558 | Decreased fetal movement | |
| HP:0000750 | Delayed speech and language development | |
| HP:0007281 | Developmental stagnation | |
| HP:0002506 | Diffuse cerebral atrophy | |
| HP:0005469 | Flat occiput | |
| HP:0002342 | Intellectual disability, moderate | |
| HP:0010864 | Intellectual disability, severe | |
| HP:0000252 | Microcephaly | |
| HP:0007000 | Morning myoclonic jerks | |
| HP:0001357 | Plagiocephaly | |
| HP:0011220 | Prominent forehead | |
Annotation source: 1433236[PMID]
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/2898
- This record as JSON: /data/d/2898.json