Neonatal Marfan syndrome
Synonyms: Neonatal MFS
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal dominant
- Age of onset
- Infancy, Neonatal
- Status
- active
Neonatal Marfan syndrome is a rare, severe and life-threatening genetic disease, occuring during the neonatal period, characterized by classical Marfan syndrome manifestations in addition to facial dysmorphism (megalocornea, iridodonesis, ectopia lentis, crumpled ears, loose redundant skin giving a 'senile' facial appearance), flexion joint contractures, pulmonary emphysema, and a severe, rapidly progressive cardiovascular disease (including ascending aortic dilatation and severe mitral and/or tricuspid valve insufficiency). Additionally, skeletal manifestations (arachnodactyly, dolichostenomelia, pectus deformities) are also associated.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Neonatal Marfan syndrome | Neonatal MFS |
| fr | Syndrome de Marfan néonatal | MFS néonatal |
| de | Marfan-Syndrom, neonatales | Neonatales MFS |
| es | Síndrome de Marfan neonatal | MFS neonatal |
| it | Sindrome di Marfan neonatale | MFS neonatale |
| nl | Neonataal syndroom van Marfan | Neonataal MFS |
| pt | Síndrome de Marfan neonatal | |
| pl | Zespół Marfana noworodków | Noworodkowy MFS |
| cs | Neonatální Marfanův syndrom | Neonatální MFS |
| uk | Синдром Марфана у новонароджених | Неонатальна MFS |
| zh | 新生儿马凡综合征 | 新生儿MFS |
| tr | Yenidoğan Marfan sendromu | Yenidoğan MFS |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| ICD-10 | Q87.4 | NTBT | attributed | validated |
| ICD-11 | LD28.0Y | NTBT | index | validated |
| MONDO | 0017309 | E | validated | |
| UMLS | C4016054 | 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:284993Marfan syndrome and Marfan-related disorders
rare genetic diseases; rare systemic and rheumatological diseases - ORPHA:285014Rare disease with thoracic aortic aneurysm and aortic dissection
rare genetic diseases; rare surgical thoracic diseases; rare circulatory system 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 | 20132243[PMID] |
Prevalence and incidence
1 record| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Point prevalence | Unknown | — | Worldwide | Class only | Not yet 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
43 annotations · validated 2016-05-23| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Obligate (100%) | ||
| HP:0002097 | Emphysema | |
| HP:0001653 | Mitral regurgitation | |
| HP:0005180 | Tricuspid regurgitation | |
| Very frequent (99-80%) | ||
| HP:0001713 | Abnormal cardiac ventricle morphology | |
| HP:0001626 | Abnormality of the cardiovascular system | |
| HP:0001181 | Adducted thumb | |
| HP:0001166 | Arachnodactyly | |
| HP:0004970 | Ascending tubular aorta aneurysm | |
| HP:0000973 | Cutis laxa | |
| HP:0008734 | Decreased testicular size | |
| HP:0000268 | Dolichocephaly | |
| HP:0001083 | Ectopia lentis | |
| HP:0100625 | Enlarged thorax | |
| HP:0011968 | Feeding difficulties | |
| HP:0001371 | Flexion contracture | |
| HP:0030148 | Heart murmur | |
| HP:0011003 | High myopia | |
| HP:0012418 | Hypoxemia | |
| HP:0100693 | Iridodonesis | |
| HP:0100578 | Lipoatrophy | |
| HP:0100807 | Long fingers | |
| HP:0010511 | Long toe | |
| HP:0000485 | Megalocornea | |
| HP:0001634 | Mitral valve prolapse | |
| HP:0001270 | Motor delay | |
| HP:0002643 | Neonatal respiratory distress | |
| HP:0000768 | Pectus carinatum | |
| HP:0001518 | Small for gestational age | |
| HP:0008124 | Talipes calcaneovarus | |
| HP:0001704 | Tricuspid valve prolapse | |
| Frequent (79-30%) | ||
| HP:0002616 | Aortic root aneurysm | |
| HP:0000592 | Blue sclerae | |
| HP:0009901 | Crumpled ear | |
| HP:0000490 | Deeply set eye | |
| HP:0000494 | Downslanted palpebral fissures | |
| HP:0002705 | High, narrow palate | |
| HP:0001265 | Hyporeflexia | |
| HP:0001252 | Hypotonia | |
| HP:0012771 | Increased arm span | |
| HP:0001382 | Joint hypermobility | |
| HP:0000369 | Low-set ears | |
| HP:0000347 | Micrognathia | |
| HP:0000431 | Wide nasal bridge | |
Run the differential on the 12 obligate / very frequent terms
Annotation source: 16222685[PMID]_17366579[PMID]_20455198[PMID]_15770129[PMID]
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/284979
- This record as JSON: /data/d/284979.json