ORPHA:2497
Upper limb mesomelic dysplasia, type Fryns
Synonyms: Fryns-Hofkens-Fabry syndrome
- Type
- Malformation syndrome
- Group
- Disorder
- Age of onset
- Neonatal
- Status
- active
A rare primary bone dysplasia characterized by isolated upper limb mesomelic dysplasia. Patients present with ulnar hypoplasia with severe radial bowing, but normal stature.
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Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Upper limb mesomelic dysplasia, type Fryns | Fryns-Hofkens-Fabry syndrome |
| fr | Dysplasie mésomélique de l'avant bras type Fryns | Syndrome de Fryns-Hofkens-Fabry |
| de | Dysplasie, mesomele, der oberen Extremität, Typ Fryns | Fryns-Hofkens-Fabry-Syndrom |
| es | Displasia mesomélica de las extremidades superiores tipo Fryns | Síndrome de Fryns-Hofkens-Fabry |
| it | Displasia mesomelica dell'avanbraccio, tipo Fryns | Ipoplasia del gomito · Sindrome di Fryns-Hofkens-Fabry |
| nl | Mesomele dysplasie van bovenste ledematen, Fryns-type | Syndroom van Fryns-Hofkens-Fabry |
| pt | Displasia mesomélica dos membros superiores, tipo Fryns | Síndrome Fryns-Hofkens-Fabry |
| pl | Dysplazja mezomeliczna kończyn górnych typu Frynsa | Hipoplazja kości łokciowej · Zespół Frynsa, Hofkensa i Fabry'ego |
| cs | Mezomelická dysplázie horních končetin | Hypoplázie ulny · Frynsův-Hofkensův-Fabryho syndrom · Fryns-Hofkens-Fabryho syndrom |
| uk | Мезомелічна дисплазія верхніх кінцівок, тип Фрінса | Синдром Фрінса-Хофкенса-Фабрі · Гіпоплазія ліктьової кістки |
| zh | 上肢肢中骨发育不良 | Fryns-Hofkens-Fabry综合征 |
| tr | Üst ekstremite mezomelik displazi | Ulna hipoplazisi · Fryns-Hofkens-Fabry sendromu |
Definition in:
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Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 191440 | E | validated | |
| ICD-10 | Q71.8 | NTBT | attributed | validated |
| ICD-11 | LD24.A | NTBT | index | validated |
| MONDO | 0008620 | E | validated | |
| MeSH | C538069 | E | validated | |
| UMLS | C5574958 | E | validated | |
| GARD | 2408 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
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Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (1):
- ORPHA:93438Mesomelic and rhizo-mesomelic dysplasia
rare developmental anomalies during embryogenesis; rare genetic diseases; rare bone diseases
No children.
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Genes
0 directOrphanet records no gene directly on this code.
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Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 4 cases | Worldwide | Case(s) | Validated | 3342548[PMID]_16283892[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_3342548[PMID]_16283892[PMID] |
Value is Orphadata's ValMoy: the mean estimate per 100 000 for prevalence and incidence, the number of cases or families for case reports.
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HPO phenotypes
3 annotations · validated 2016-06-01| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0003022 | Hypoplasia of the ulna | |
| HP:0002986 | Radial bowing | |
| HP:0009465 | Ulnar deviation of finger | |
Run the differential on the 3 obligate / very frequent terms
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/2497
- This record as JSON: /data/d/2497.json