Marfanoid habitus-facial dysmorphism-skeletal abnormality-heart defect syndrome
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal dominant
- Age of onset
- Neonatal
- Status
- active
A rare multiple congenital anomalies/dysmorphic syndrome without intellectual disability characterized by congenital heart disease, skeletal and joint abnormalities (including pectus excavatum, scoliosis and hyper-extensibility or contractures in finger joints), variable dysmorphic facial features (notably long face with narrow maxilla and pointed chin) and failure to thrive. Addinitonal clinical features may include gastrointestinal problems, lipodystrophy‐like features, renal hypoplasia, hearing impairment, distinct ocular abnormalities, thin/velvety skin, risk for pneumothorax and genital abnormalities in male.
Names in Orphadata languages
10 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Marfanoid habitus-facial dysmorphism-skeletal abnormality-heart defect syndrome | |
| fr | Syndrome marfanoïde-dysmorphisme facial-malformation squelettique-malformation cardiaque | |
| de | Marfanoider Habitus-Gesichtsdysmorphien-Skelettanomalien-Herzfehler-Syndrom | |
| es | Síndrome de hábito marfanoide-dismorfia facial-anomalía esquelética-defecto cardíaco | |
| it | Sindrome habitus marfanoide-dismorfismi facciali-anomalie scheletriche-cardiopatia | |
| nl | Marfanoïde habitus - faciale dysmorfie - skeletafwijking - hartdefect-syndroom | |
| pt | Síndrome de habito marfanoide-dismorfia facial-anomalia esquelética-defeito cardíaco | |
| pl | Marfanoidalny wygląd-dysmorfia twarzy-nieprawidłowości szkieletu-wada serca | |
| cs | Syndrom zahrnující marfanoidní habitus, faciální dysmorfii, kosterní abnormality a srdeční vadu | |
| uk | Синдром марфаноїдного габітусу-дизморфізму обличчя-скелетних аномалій-серцевих вад |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 617602 | E | validated | |
| ICD-10 | Q87.8 | NTBT | attributed | validated |
| MONDO | 0060532 | E | validated | |
| UMLS | C5816735 | 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:330206Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability
rare genetic diseases - ORPHA:102285Multiple congenital anomalies/dysmorphic syndrome without intellectual disability
rare developmental anomalies during embryogenesis
No children.
Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| ABL1 | Disease-causing germline mutation(s) in | Assessed | HGNC:76 | ENSG00000097007 | 189980 | 9q34.12 | ABL proto-oncogene 1, non-receptor tyrosine kinase | 32643838[PMID] |
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 13 cases | Worldwide | Case(s) | Validated | 28288113[PMID]_ 32643838[PMID]_ 30855488[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | 28288113[PMID]_ 32643838[PMID]_ 30855488[PMID]_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/643503
- This record as JSON: /data/d/643503.json