Marfanoid habitus-inguinal hernia-advanced bone age syndrome
- Type
- Malformation syndrome
- Group
- Disorder
- Age of onset
- Antenatal, Infancy, Neonatal
- Status
- active
A rare developmental defect with connective tissue involvement disorder characterized by tall stature, inguinal hernia, facial dysmorphism (including a long, triangular face, prominent forehead, telecanthus, downslanting palpebral fissures, bilateral ptosis, everted lower eyelids, large ears, long nose, full, everted vermilions, narrow and high arched palate, dental crowding), and radiologic evidence of advanced bone age. Additional manifestations include hyperextensible joints, long digits, mild muscle weakness, myopia, and foot deformities (i.e. hallux valgus, talipes equinovarus).
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Marfanoid habitus-inguinal hernia-advanced bone age syndrome | |
| fr | Syndrome marfanoïde-hernie inguinale-vieillissement osseux prématuré | |
| de | Marfanoider Habitus-Inguinalhernie-Beschleunigte Knochenalterung-Syndrom | |
| es | Síndrome de hábito marfanoide-hernia inguinal-edad ósea avanzada | |
| it | Sindrome da habitus marfanoide, ernia inguinale, età ossea avanzata | |
| nl | Marfanoïde habitus - liesbreuk - gevorderde botleeftijd-syndroom | Marfanoïde habitus - hernia inguinalis - gevorderde botleeftijd-syndroom |
| pt | Síndrome de habitus marfanóide-hérnia inguinal-idade óssea avançada | |
| pl | Marfanoidalny wygląd - przepuklina pachwinowa - zaawansowany wiek kostny | |
| cs | Syndrom zahrnující marfanoidní habitus, tříselnou kýlu a urychlený kostní věk | |
| uk | Синдром марфаноїдного габітусу-пахової кили-пізнього кісткового віку | |
| zh | 马凡体征-腹股沟疝-骨龄提前综合征 | |
| tr | Marfanoid habitus-inguinal herni-ileri kemik yaşı sendromu |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| ICD-10 | Q87.8 | NTBT | attributed | validated |
| MONDO | 0017793 | E | validated | |
| UMLS | C5190606 | 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:139030Rare developmental defect with connective tissue involvement
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 | 2 cases | Worldwide | Case(s) | Validated | 22489068[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/314041
- This record as JSON: /data/d/314041.json