X-linked lethal multiple pterygium syndrome
- Type
- Malformation syndrome
- Group
- Disorder
- Inheritance
- X-linked dominant, X-linked recessive
- Age of onset
- Antenatal, Neonatal
- Status
- active
X-linked lethal multiple pterygium syndrome is a rare, genetic, developmental defect during embryogenesis characterized by the typical lethal multiple pterygium syndrome presentation (comprising of multiple pterygia, severe arthrogryposis, cleft palate, cystic hygromata and/or fetal hydrops, skeletal abnormalities and fetal death in the 2nd or 3rd trimester) with an X-linked pattern of inheritance.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | X-linked lethal multiple pterygium syndrome | |
| fr | Forme létale liée à l'X du syndrome des ptérygiums multiples | |
| de | Multiples Pterygium-Syndrom, letales, X-chromosomales | |
| es | Síndrome de pterigium múltiple letal ligado al cromosoma X | |
| it | Sindrome letale degli pterigi multipli legata all'X | |
| nl | X-gebonden letaal multipele pterygium-syndroom | |
| pt | Síndrome de pterígio múltiplo letal ligado ao X | |
| pl | Śmiertelny zespół mnogich płetwistości sprzężony z chromosomem X | |
| cs | X-vázaný letální syndrom mnohočetných pterygií | |
| uk | Х-зчеплений летальний синдром множинної птеригії | |
| zh | X连锁致命性多发性翼状胬肉综合征 | |
| tr | X'e bağlı letal çoklu piterjiyum sendromu |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 312150 | E | validated | |
| ICD-10 | Q79.8 | NTBT | attributed | validated |
| ICD-11 | LD26.40 | NTBT | index | validated |
| MONDO | 0010716 | E | validated | |
| UMLS | C4706472 | E | validated | |
| GARD | 4573 | 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:294060Multiple pterygium syndrome
rare developmental anomalies during embryogenesis; 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 | 6 families | Worldwide | Family(ies) | Validated | 9916854[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_9916854[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/79447
- This record as JSON: /data/d/79447.json