NEK9-related lethal skeletal dysplasia
Synonyms: Lethal skeletal dysplasia-fetal akinesia-contractures-thoracic dysplasia-pulmonary hypoplasia syndrome
- Type
- Malformation syndrome
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Antenatal
- Status
- active
NEK9-related lethal skeletal dysplasia is a rare, lethal, primary bone dysplasia characterized by fetal akinesia, multiple contractures, shortening of all long bones, short, broad ribs, narrow chest and thorax, pulmonary hypoplasia and a protruding abdomen. Short bowed femurs may also be associated.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | NEK9-related lethal skeletal dysplasia | Lethal skeletal dysplasia-fetal akinesia-contractures-thoracic dysplasia-pulmonary hypoplasia syndrome |
| fr | Dysplasie squelettique létale associée à NEK9 | Dysplasie squelettique létale avec akinésie foetale, contractures, dysplasie thoracique et hypoplasie pulmonaire |
| de | NEK9-assoziierte letale Skelettdysplasie | Letale Skelettdysplasie-fetale Akinesie-Kontrakturen-Thoraxdysplasie-Pulmonalhypoplasie-Syndrom |
| es | Displasia esquelética letal asociada a NEK9 | Síndrome letal de displasia esquelética-aquinesia fetal-contracturas-displasia torácica-hipoplasia pulmonar |
| it | Displasia scheletrica letale correlata a NEK9 | |
| nl | NEK9-gerelateerde letale skeletdysplasie | Letale skeletdysplasie - foetale akinesie - contracturen - thoracale dysplasie - pulmonaire hypoplasie-syndroom |
| pt | Displasia esquelética letal NEK9-relacionada | |
| pl | Letalna dysplazja szkieletowa zależna od NEK9 | Zespół letalnej dysplazji szkieletowej, akinezji płodu, przykurczy, dysplazji klatki piersiowej i hipoplazji płuc |
| cs | NEK9-vázaná letální skeletální dysplázie | Lethal skeletal dysplasia-fetal akinesia-contractures-thoracic dysplasia-pulmonary hypoplasia syndrome · Syndrom zahrnující letální skeletální dysplázii, fetální akinezi, kontrakce, hrudní dysplázii a plicní hypoplázii |
| uk | Летальна скелетна дисплазія, повязана з NEK9 | Летальний синдром скелетної дисплазії - акінезії плода - контрактур - дисплазії грудної клітки - легеневої гіпоплазії |
| zh | NEK9相关致死性骨发育不良 | 致命性骨骼发育不良-胎儿运动障碍-挛缩-胸廓发育不良-肺发育不全综合征 |
| tr | NEK9-ilişkili letal iskelet displazisi | Letal iskelet displazisi-fetal akinezi-kontraktürler-torasik displazi-pulmoner hipoplazi sendromu |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 617022 | E | validated | |
| ICD-10 | Q68.8 | NTBT | attributed | validated |
| ICD-11 | LD26.4Y | NTBT | attributed | validated |
| MONDO | 0014870 | E | validated | |
| UMLS | C5568141 | 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 (3):
- ORPHA:93426Ciliopathies with major skeletal involvement
rare developmental anomalies during embryogenesis; rare genetic diseases; rare bone diseases - ORPHA:363250Ciliopathy
rare genetic diseases - ORPHA:182108Thoracic malformation
rare respiratory diseases
No children.
Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| NEK9 | Disease-causing germline mutation(s) (loss of function) in | Assessed | HGNC:18591 | ENSG00000119638 | 609798 | 14q24.3 | NIMA related kinase 9 | 26908619[PMID] |
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 5 cases | Worldwide | Case(s) | Validated | 26908619[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_26908619[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
Orphanet has no HPO annotation for this code in this release.
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/464366
- This record as JSON: /data/d/464366.json