Mesomelic dysplasia, Nievergelt type
Synonyms: Mesomelic dwarfism, Nievergelt type · Nievergelt syndrome
- Type
- Malformation syndrome
- Group
- Disorder
- Inheritance
- Autosomal dominant
- Age of onset
- Antenatal, Neonatal
- Status
- active
A rare primary bone dysplasia characterized by severe mesomelic shortness particularly of the lower limbs with distinctive triangular or rhomboid-shaped tibiae and fibulae, accompanied by bony protuberances and skin dimples. Additional manifestations include radioulnar synostosis, dislocation of the radial head, abnormalities of the hands (such as oligosyndactyly or fusiform-shaped fingers) and feet (pes equinovarus, synostoses of tarsals/metatarsals and phalanges), and dysmorphic facial features.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Mesomelic dysplasia, Nievergelt type | Mesomelic dwarfism, Nievergelt type · Nievergelt syndrome |
| fr | Dysplasie mésomélique type Nievergelt | Nanisme mésomélique type Nievergelt · Syndrome de Nievergelt |
| de | Dysplasie, mesomele, Typ Nievergelt | Kleinwuchs, mesomeler, Typ Nievergelt · Nievergelt-Syndrom |
| es | Displasia mesomélica tipo Nievergelt | Enanismo mesomélico tipo Nievergelt · Síndrome de Nievergelt |
| it | Nanismo mesomelico, tipo Nievergelt | Sindrome di Nievergelt |
| nl | Mesomele dysplasie, Nievergelt-type | Mesomele dwerggroei, Nievergelt-type · Syndroom van Nievergelt |
| pt | Nanismo mesomélico, tipo Nievergelt | Síndrome Nievergelt |
| pl | Niskorosłość mezomeliczna typu Nievergelta | Zespół Nievergelta |
| cs | Mezomelické trpaslictví, Nievergeltův typ | Nievergeltův syndrom |
| uk | Мезомелічна дисплазія, тип Нівергельта | Мезомелічна карликовість, тип Нівергельта · Синдром Нівергельта |
| zh | 肢中部发育不良，Nievergelt型 | 肢中骨发育不良，Nievergelt型 |
| tr | Mezomelik displazi, Nievergelt tipi | Nievergelt sendromu · Mezomelik cücelik, Nievergelt tipi |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 163400 | E | validated | |
| ICD-10 | Q78.8 | NTBT | attributed | validated |
| ICD-11 | LD24.A | NTBT | index | validated |
| MONDO | 0008098 | E | validated | |
| MeSH | C536120 | E | validated | |
| UMLS | C0432231 | E | validated | |
| GARD | 3554 | 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:93438Mesomelic and rhizo-mesomelic dysplasia
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 | 19 cases | Worldwide | Case(s) | Validated | 29245094[PMID]_11977180[PMID]_6059604[PMID]_39035397[PMID]_18085094[PMID]_675214[PMID]_2717950[PMID]_17702012[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | 29245094[PMID]_11977180[PMID]_6059604[PMID]_39035397[PMID]_18085094[PMID]_675214[PMID]_2717950[PMID]_17702012[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
26 annotations · validated 2016-06-01| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0002991 | Abnormal fibula morphology | |
| HP:0040071 | Abnormal morphology of ulna | |
| HP:0002992 | Abnormality of tibia morphology | |
| HP:0006501 | Aplasia/Hypoplasia of the radius | |
| HP:0100490 | Camptodactyly of finger | |
| HP:0003042 | Elbow dislocation | |
| HP:0002857 | Genu valgum | |
| HP:0001376 | Limitation of joint mobility | |
| HP:0003027 | Mesomelia | |
| HP:0008845 | Mesomelic short stature | |
| HP:0002983 | Micromelia | |
| HP:0002974 | Radioulnar synostosis | |
| HP:0010781 | Skin dimple | |
| HP:0008368 | Tarsal synostosis | |
| Occasional (29-5%) | ||
| HP:0003019 | Abnormality of the wrist | |
| HP:0007598 | Bilateral single transverse palmar creases | |
| HP:0000248 | Brachycephaly | |
| HP:0004209 | Clinodactyly of the 5th finger | |
| HP:0000268 | Dolichocephaly | |
| HP:0006101 | Finger syndactyly | |
| HP:0002970 | Genu varum | |
| HP:0001249 | Intellectual disability | |
| HP:0100729 | Large face | |
| HP:0000960 | Sacral dimple | |
| HP:0002650 | Scoliosis | |
| HP:0000486 | Strabismus | |
Run the differential on the 12 obligate / very frequent terms
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/2633
- This record as JSON: /data/d/2633.json