Weismann-Netter syndrome
Synonyms: Anterior bowing of legs with dwarfism · Toxopachyosteose diaphysaire tibio-peroniere · WNS · Weismann-Netter-Stuhl syndrome
- Type
- Malformation syndrome
- Group
- Disorder
- Age of onset
- Neonatal
- Status
- active
Weismann-Netter syndrome is a rare, genetic, primary, bent bone dysplasia characterized by anterior diaphyseal bowing of the tibia and fibula, broadening of the fibula, posterior cortical thickening of both bones and short stature. Additional skeletal abnormalities include scoliosis with marked lumbar lordosis, horizontal sacrum and square iliac wings and/or, less frequently, vertebral malformations, abnormal shape of the clavicles and ribs, calvarial hyperostosis and delayed eruption of permanent teeth. Delayed ambulation is also frequently associated.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Weismann-Netter syndrome | Anterior bowing of legs with dwarfism · Toxopachyosteose diaphysaire tibio-peroniere · WNS · Weismann-Netter-Stuhl syndrome |
| fr | Syndrome de Weismann-Netter-Stuhl | Toxopachyostéose diaphysaire tibio-péronière · WNS |
| de | Weismann-Netter-Syndrom | Anteriore Verkrümmung der Beine mit Kleinwuchs · Toxopachyostose, tibioperoneale diaphysäre · WNS · Weismann-Netter-Stuhl-Syndrom |
| es | Síndrome de Weismann-Netter | Arqueamiento anterior de las piernas con enanismo · Síndrome de Weismann-Netter-Stuhl · Toxopaquiosteosis diafisaria tibioperonea · WNS |
| it | Sindrome di Weismann-Netter | Incurvamento anteriore delle gambe con nanismo · Sindrome di Weismann-Netter-Stuhl · WNS |
| nl | Syndroom van Weismann-Netter | Anterieure kromming van benen met dwerggroei · Syndroom van Weismann-Netter-Stuhl · Toxopachyosteose diaphysaire tibio-peroniere · WNS |
| pt | Síndrome Weismann-Netter | Encurvamento anterior das pernas com nanismo · Síndrome Weismann-Netter-Stuhl · Toxopaquiosteose diafisária tibio-peroneal · WNS |
| pl | Zespół Weismanna i Nettera | = en |
| cs | Weismann-Netterův syndrom | = en |
| uk | Синдром Вайсмана-Неттера | Переднє згинання ніг при карликовості · Токсопахіостеоїдний діафізарний тибіопероніт · Синдром Вайсмана-Неттера-Штуля · WNS |
| zh | Weismann-Netter 综合征 | 腿前弓伴侏儒 |
| tr | Weismann-Netter sendromu | WNS · Weismann-Netter-Stuhl sendromu · Cücelik ile seyreden bacakların öne eğilmesi |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 112350 | E | validated | |
| ICD-10 | Q77.8 | NTBT | attributed | validated |
| ICD-11 | LD24.C | NTBT | index | validated |
| MONDO | 0007209 | E | validated | |
| MeSH | C537082 | E | validated | |
| UMLS | C1862172 | E | validated | |
| GARD | 5232 | 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:93439Campomelic dysplasia and related disorders
rare developmental anomalies during embryogenesis; rare genetic diseases; rare bone 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 | 100 cases | Worldwide | Case(s) | Validated | 19839038[PMID] | |
| Point prevalence | Unknown | — | Worldwide | Class only | Validated | ORPHANET_19839038[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.
HPO phenotypes
20 annotations · validated 2016-06-01| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0003103 | Abnormal cortical bone morphology | |
| HP:0002991 | Abnormal fibula morphology | |
| HP:0002992 | Abnormality of tibia morphology | |
| HP:0006487 | Bowing of the long bones | |
| HP:0010502 | Fibular bowing | |
| HP:0003510 | Severe short stature | |
| HP:0002982 | Tibial bowing | |
| Frequent (79-30%) | ||
| HP:0003312 | Abnormal form of the vertebral bodies | |
| HP:0002823 | Abnormality of femur morphology | |
| HP:0003272 | Abnormality of the hip bone | |
| HP:0002980 | Femoral bowing | |
| HP:0001249 | Intellectual disability | |
| HP:0002808 | Kyphosis | |
| HP:0002650 | Scoliosis | |
| HP:0003177 | Squared iliac bones | |
| Occasional (29-5%) | ||
| HP:0031095 | Abnormal humerus morphology | |
| HP:0040071 | Abnormal morphology of ulna | |
| HP:0000820 | Abnormality of the thyroid gland | |
| HP:0001903 | Anemia | |
| HP:0006501 | Aplasia/Hypoplasia of the radius | |
Run the differential on the 7 obligate / very frequent terms
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/3344
- This record as JSON: /data/d/3344.json