Painful orbital and systemic neurofibromas-marfanoid habitus syndrome
- Type
- Malformation syndrome
- Group
- Disorder
- Inheritance
- Unknown
- Age of onset
- Adolescent
- Status
- active
Painful orbital and systemic neurofibromas-marfanoid habitus syndrome is a rare, benign, peripheral nerve sheath tumor disorder characterized by multiple, painful, mucin-rich plexiform neurofibromas located in the orbits, cranium, large spinal nerves and mucosa, associated with a marfanoid habitus, enlarged corneal nerves, congenital neuronal migration anomalies and facial dysmorphism which includes ptosis, proptosis, prominent nose, full lips, gingival hyperplasia, and multiple subcutaneous and submucosal nodules in the lips and sublingual zone.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Painful orbital and systemic neurofibromas-marfanoid habitus syndrome | |
| fr | Syndrome marfanoïde-neurofibromes systémiques et orbitaux douloureux | |
| de | Schmerzhafte orbitale und systemische Neurofibrome-marfanoider Habitus-Syndrom | |
| es | Síndrome de dolor orbital y neurofibromas sistémicos-hábito marfanoide | |
| it | Sindrome da neurofibromi dolorosi orbitali sistemici e habitus marfanoide | |
| nl | Pijnlijke orbitale en systemische neurofibromen - marfanoïde habitus-syndroom | |
| pt | Síndrome de neurofibromas orbitários e sistémicos dolorosos-habitus marfanóide | |
| pl | Zespół bolesnych nerwiakowłókniaków oczodołu i układowych z sylwetką marfanoidalną | |
| cs | Syndrom zahrnující bolestivé orbitální a systémové neurofibromy a marfanoidní habitus | |
| uk | Синдром болючих орбітальних та системних нейрофібром-марфаноїдного габітусу | |
| zh | 眼眶疼痛-全身神经纤维瘤-马凡样外表综合征 | |
| tr | Ağrılı orbital ve sistemik nörofibroma-marfanoid habitus sendromu |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| ICD-10 | D36.1 | NTBT | attributed | validated |
| MONDO | 0017585 | E | validated | |
| UMLS | C4751109 | E | validated | |
| GARD | 11006 | 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:252131Benign peripheral nerve sheath tumor
rare neurological diseases; rare neoplastic 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 | 4 cases | Worldwide | Case(s) | Validated | 22258529[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/300501
- This record as JSON: /data/d/300501.json