Craniosynostosis, Boston type
Synonyms: Craniosynostosis, Warman type · Warman-Mulliken-Hayward syndrome
- Type
- Malformation syndrome
- Group
- Disorder
- Inheritance
- Autosomal dominant
- Age of onset
- Infancy, Neonatal
- Status
- active
Craniosynostosis, Boston type is a form of syndromic craniosynostosis, characterized by a highly variable craniosynostosis with frontal bossing, turribrachycephaly and cloverleaf skull anomaly. Hypoplasia of the supraorbital ridges, cleft palate, extra teeth and limb anomalies (triphalangeal thumb, 3-4 syndactyly of the hands, a short first metatarsal, middle phalangeal agenesis in the feet) have also been described. Associated problems include headache, poor vision, and seizures. Intelligence is normal.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Craniosynostosis, Boston type | Craniosynostosis, Warman type · Warman-Mulliken-Hayward syndrome |
| fr | Craniosynostose type Boston | Craniosynostose type Warman · Syndrome de Warman-Mulliken-Hayward |
| de | Kraniosynostose Typ Boston | Kraniosynostose Typ Warman · Warman-Mulliken-Hayward-Syndrom |
| es | Craneosinostosis tipo Boston | Craneosinostosis tipo Warman · Síndrome de Warman-Muliken-Hayward |
| it | Craniosinostosi, tipo Boston | Craniosinostosi, tipo Warman · Sindrome di Warman-Mulliken-Hayward |
| nl | Craniosynostose, Boston-type | Craniosynostose, Warman-type · Syndroom van Warman-Mulliken-Hayward |
| pt | Craniossinostose, tipo Boston | Craniossinostose, tipo Warman · Síndrome Warma-Mulliken-Hayward |
| pl | Kraniosynostoza typu bostońskiego | Kraniosynostoza typu Warmana · Zespół Warmana, Mullikena i Haywarda |
| cs | Kraniosynostóza, typ Boston | Kraniosynostóza, Warmanův typ · Warmanův-Mullikenův-Haywardův syndrom · Warman-Mulliken-Haywardův syndrom |
| uk | Краніосиностоз, бостонський тип | Краніосиностоз, тип Уормана · Синдром Уормана-Маллікена-Хейворда |
| zh | 颅缝早闭，波士顿型 | Warman-Mulliken-Hayward 综合征 |
| tr | Kraniosinostoz, Boston tipi | Kraniyosinostoz, Warman tipi · Warman-Mulliken-Hayward sendromu |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 604757 | E | validated | |
| ICD-10 | Q75.8 | NTBT | attributed | validated |
| ICD-11 | LD24.GY | NTBT | index | validated |
| MONDO | 0011481 | E | validated | |
| MeSH | C565753 | E | validated | |
| UMLS | C1858160 | E | validated | |
| GARD | 5538 | 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: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 |
|---|---|---|---|---|---|---|---|---|
| MSX2 | Disease-causing germline mutation(s) in | Assessed | HGNC:7392 | ENSG00000120149 | 123101 | 5q35.2 | msh homeobox 2 | 23918290[PMID]_23949913[PMID] |
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 3 families | Worldwide | Family(ies) | Validated | 23949913[PMID]_23918290[PMID]_8357019[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_23949913[PMID]_23918290[PMID]_8357019[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/1541
- This record as JSON: /data/d/1541.json