Cloverleaf skull-asphyxiating thoracic dysplasia syndrome
historical
Synonyms: Benallegue-Lacete syndrome
- Type
- Malformation syndrome
- Group
- Disorder
- Age of onset
- Neonatal
- Status
- historical
A rare syndromic craniosynostosis characterized by prenatal presentation with cloverleaf skull, micromelia and asphyxiating thoracic dysplasia. Radiologic features include short ribs, horizontal roof of the acetabulum with a rounded median prominence and lateral spurs, deformed long bones with broad metaphyses, and absent ossification of the terminal phalanges. There have been no further descriptions in the literature since 1987.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Cloverleaf skull-asphyxiating thoracic dysplasia syndrome | Benallegue-Lacete syndrome |
| fr | Syndrome de crâne en trèfle-dysplasie asphyxiante du thorax | Syndrome de Benallegue Lacete |
| de | Kleeblattschädel - asphyxierende Thoraxdysplasie | Benallegue-Lacete-Syndrom |
| es | Síndrome de cráneo en trébol-displasia torácica asfixiante | Síndrome de Benallegue-Lacete |
| it | Sindrome da cranio a trifoglio e displasia toracica asfissiante | |
| nl | Klaverbladschedel - asfyxiërende thoracale dysplasie-syndroom | Syndroom van Benallegue-Lacete |
| pt | Síndrome Benallegue-Lacete | |
| pl | Zespół dysplazji zaciskającej klatki piersiowej z czaszką w kształcie trójlistnej koniczyny | Zespół Benallegue i Lacete |
| cs | Syndrom zahrnující čtyřlístkovou lebku a hrudní dysplázii spojenou s asfyxií | Benallegueův-Laceteův syndrom · Benallegue-Laceteův syndrom |
| uk | Синдром конюшинової черепно-асфіктичної торакальної дисплазії | Синдром Беналже-Ласета |
| zh | 分叶状颅骨-窒息性胸廓发育不良综合征 | Benallegue-Lacete 综合征 |
| tr | Yonca yaprağı kafatası ile toraksta asfiksiye yol açan displazi | Benallegue-Lacete sendromu |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| ICD-10 | Q87.5 | NTBT | attributed | validated |
| ICD-11 | LD24.GY | NTBT | index | validated |
| MONDO | 0015086 | E | validated | |
| UMLS | C5190852 | E | validated | |
| GARD | 853 | 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
0 directOrphanet records no gene directly on this code.
Prevalence and incidence
1 record| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_3499843[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/100978
- This record as JSON: /data/d/100978.json