SBDS-related severe neonatal spondylometaphyseal dysplasia
Synonyms: SBDS-related severe neonatal SMD · Spondylometaphyseal dysplasia, Sedaghatian-like type
- Type
- Malformation syndrome
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Status
- active
A rare spondylodysplastic dysplasia characterized by severe, neonatal skeletal manifestations (including narrow thorax, rhizomelic shortening of the limbs with cupped anterior ends, mild to severe platyspondyly, lacy iliac crests, delayed ossification of the caudal ilia, ragged/cupped metaphyses of the long bones and hypoplastic pubic rami), severe respiratory failure (patients could require lifelong ventilation support), severe short stature and developmental delay. Additional clinical features may include atrial septal defect, seizures, pulmonary hypoplasia, gallbladder hypoplasia and hepatic fibrosis. Neutropenia and decreased serum amylase can be present.
Names in Orphadata languages
10 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | SBDS-related severe neonatal spondylometaphyseal dysplasia | SBDS-related severe neonatal SMD · Spondylometaphyseal dysplasia, Sedaghatian-like type |
| fr | Dysplasie spondylo-métaphysaire néonatale sévère liée à SBDS | Dysplasie spondylo-métaphysaire type Sedaghatian-like |
| de | SBDS-assoziierte schwere neonatale spondylometaphysäre Dysplasie | SBDS-assoziierte schwere neonatale SMD · Spondylometaphysäre Dysplasie ähnlich Typ Sedaghatian |
| es | Displasia espondilometafisaria neonatal grave asociada a SBDS | DEM neonatal grave asociada a SBDS · Displasia espondilometafisaria tipo Sedaghatian-like |
| it | Grave displasia spondilometafisaria neonatale correlata a SBDS | Displasia spondilometafisaria simil-Sedaghatian · SMD neonatale grave correlata a SBDS |
| nl | SBDS-gerelateerde ernstige neonatale spondylometafysaire dysplasie | SBDS-gerelateerde ernstige neonatale SMD · Spondylometafysaire dysplasie, Sedaghatian-achtig type |
| pt | Displasia espondilometafisária neonatal grave SBDS-relacionada | Displasia espondilometafisária, tipo Sedaghatian-like · SMN neonatal grave SBDS-relacionada |
| pl | Ciężka dysplazja kręgowo-przynasadowa noworodków związana z SBDS | = en |
| cs | SBDS-asociovaná těžká neonatální spondylometafyzeální dysplázie | = en |
| uk | Тяжка неонатальна спондилометафізарна дисплазія, повязана зі SBDS | Тяжкий неонатальний SMD, повязаний із SBDS · Спондилометафізарна дисплазія, Седагаті-подібний тип |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| ICD-10 | Q77.8 | NTBT | attributed | validated |
| ICD-11 | LD24.4 | NTBT | attributed | validated |
| MONDO | 0850096 | E | validated | |
| UMLS | C5680412 | 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:93434Spondylodysplastic dysplasia
rare developmental anomalies during embryogenesis; rare genetic diseases; rare bone diseases
No children.
Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| SBDS | Disease-causing germline mutation(s) in | Assessed | HGNC:19440 | ENSG00000126524 | 607444 | 7q11.21 | SBDS ribosome maturation factor | 31633310[PMID] |
Prevalence and incidence
0 recordsNo prevalence record in this release.
HPO phenotypes
Orphanet has no HPO annotation for this code in this release.
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/622934
- This record as JSON: /data/d/622934.json