Lethal polymalformative syndrome, Boissel type
- Type
- Malformation syndrome
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Infancy, Neonatal
- Status
- active
A rare, genetic, lethal, multiple congenital anomalies/dysmorphic syndrome characterized by failure to thrive, severe developmental delay, severe postanatal microcephaly, frequent congenital cardiac defects and characteristic facial dysmorphysm (including coarse face with anteverted nostrils, thin vermillion, prominent alveolar ridge and retro- or micrognatia). Additional common features include neurologic abnormalities (hyper-/hypotonia, sensorineural deafness, hydrocephalus, cerebral atrophy, seizures), as well as brachydactyly, cutis marmorata and genital anomalies.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Lethal polymalformative syndrome, Boissel type | |
| fr | Syndrome polymalformatif létal type Boissel | |
| de | Letales polymalformatives Syndrom Typ Boissel | |
| es | Síndrome polimalformativo letal tipo Boissel | |
| it | Sindrome polimalformativa letale, tipo Boissel | |
| nl | Letaal polymalformatief syndroom, Boissel-type | |
| pt | Síndrome polimalformativo letal, tipo Boissel | |
| pl | Letalny zespół mnogich wad wrodzonych, typ Boissela | |
| cs | Letální polymalformativní syndrom, Boisselové typ | |
| uk | Летальний поліформативний синдром, тип Буасселя | |
| zh | Boissel型致死性多畸形综合征 | |
| tr | Letal polimalformatif sendrom, Boissel tipi |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 612938 | E | validated | |
| ICD-10 | Q87.8 | NTBT | attributed | validated |
| ICD-11 | LD2F.1Y | NTBT | index | validated |
| MONDO | 0013050 | E | validated | |
| UMLS | C4755275 | 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 (2):
- ORPHA:471383Genetic lethal multiple congenital anomalies/dysmorphic syndrome
rare genetic diseases - ORPHA:459787Lethal multiple congenital anomalies/dysmorphic syndrome
rare developmental anomalies during embryogenesis
No children.
Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| FTO | Disease-causing germline mutation(s) (loss of function) in | Assessed | HGNC:24678 | ENSG00000140718 | 610966 | 16q12.2 | FTO alpha-ketoglutarate dependent dioxygenase | 19559399[PMID] |
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 10 cases | Worldwide | Case(s) | Validated | 26378117[PMID]_19559399[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_26378117[PMID]_19559399[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/210144
- This record as JSON: /data/d/210144.json