Progeroid and marfanoid aspect-lipodystrophy syndrome
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal dominant
- Age of onset
- Infancy, Neonatal
- Status
- active
A rare systemic disease characterized by a neonatal progeroid appearance (not associated with other manifestations of premature aging) associated with facial dysmorphism (e.g. macrocephaly or arrested hydrocephaly, proptosis, downslanting palpebral fissures, retrognathia), generalized, extreme, congenital lack of subcutaneous fat tissue (except in the breast and iliac region) and incomplete signs of Marfan syndrome (mainly severe myopia, joint hyperextensibility and arachnodactyly). Metabolic disturbances are not associated.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Progeroid and marfanoid aspect-lipodystrophy syndrome | |
| fr | Syndrome d'apparence progéroïde et marfanoïde-lipodystrophie | |
| de | Lipodystrophie-Syndrom mit marfanoiden und progeroiden Merkmalen | |
| es | Síndrome de aspecto progeroide y marfanoide-lipodistrofia | |
| it | Sindrome dall'aspetto progeroide e marfanoide con lipodistrofia | |
| nl | Progeroïd en marfanoïd uiterlijk - lipodystrofie-syndroom | |
| pt | Síndrome com fenótipo marfanóide e progeróide - lipodistrofia | |
| pl | Zespół progeroidalny i marfanoidalny-lipodystrofia | |
| cs | Syndrom zahrnující progeroidní a marfanoidní vzhled a lipodystrofii | |
| uk | Синдром прогероїдного та марфаноїдного аспекту-ліподистрофії | |
| zh | 早衰样和马凡氏样外表-脂营养不良综合征 | |
| tr | Progeroid ve marfanoid görünüş-lipodistrofi sendromu |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 616914 | E | validated | |
| ICD-10 | E88.1 | NTBT | attributed | validated |
| ICD-11 | LD27.6 | NTBT | attributed | validated |
| MONDO | 0014831 | E | validated | |
| UMLS | C4751111 | 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:271870Rare genetic systemic or rheumatologic disease
rare genetic diseases - ORPHA:182222Rare systemic disease
rare systemic and rheumatological diseases
No children.
Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| FBN1 | Disease-causing germline mutation(s) in | Assessed | HGNC:3603 | ENSG00000166147 | 134797 | 15q21.1 | fibrillin 1 | 21594992[PMID]_21594993[PMID] |
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 7 cases | Worldwide | Case(s) | Validated | 24613577[PMID]_24665001[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET |
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/300382
- This record as JSON: /data/d/300382.json