Greenberg dysplasia
Synonyms: HEM dysplasia · Hydrops-ectopic calcification-motheaten syndrome · Skeletal dysplasia, Greenberg type
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Antenatal, Neonatal
- Status
- active
Greenberg dysplasia is a very rare lethal skeletal dysplasia characterized by fetal hydrops, short limbs and abnormal chondro-osseous calcification. The disease is characterized by early <i>in utero</i> lethality and affected fetuses are considered as nonviable.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Greenberg dysplasia | HEM dysplasia · Hydrops-ectopic calcification-motheaten syndrome · Skeletal dysplasia, Greenberg type |
| fr | Dysplasie squelettique létale type Greenberg | |
| de | Greenberg-Dysplasie | HEM-Dysplasie · Hydrops-ektopische Kalzifikation-Mottenfraß-Syndrom · Skelettdysplasie, Typ Greenberg |
| es | Displasia de Greenberg | Displasia HEM · Displasia esquelética, tipo Greenberg · Síndrome de hidropesía-calcificación ectópica-displasia esquelética apolillada |
| it | Displasia di Greenberg | Displasia scheletrica, tipo Greenberg · Idrope - calcificazione ectopica - aspetto tarlato dell'osso |
| nl | Dysplasie van Greenberg | HEM-dysplasie · Hydrops - ectopische calcificatie - moth-eaten-syndroom · Skeletdysplasie, Greenberg-type |
| pt | Displasia Greenberg | Displasia esquelética tipo Greenberg |
| pl | Dysplazja Greenberga | Dysplazja szkieletowa, typu Greenberga |
| cs | Greenbergové dysplázie | Syndrom zahrnující hydrops, ektopickou kalcifikaci a skeletální dysplázii (kosti mající vzhled prožrání od molů) · Skeletální dysplázie, Greenbergové typ |
| uk | Дисплазія Грінберга | Дисплазія НЕМ · Гідропсихічний синдром ектопічної кальцифікації та мокротиння · Скелетна дисплазія, тип Грінберга |
| zh | Greenberg骨骼发育不良 | 水肿-异位钙化-虫蚀样综合征 |
| tr | Greenberg displazisi | HEM displazisi · İskelet displazisi, Greenberg tipi · Hidrops-ektopik kalsifikasyon-motheaten sendromu |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 215140 | E | validated | |
| ICD-10 | Q77.3 | NTBT | attributed | validated |
| ICD-11 | LD24.04 | NTBT | index | validated |
| MONDO | 0008974 | E | validated | |
| MeSH | C535858 | E | validated | |
| UMLS | C2931048 | E | validated | |
| GARD | 8754 | 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 (2):
- ORPHA:93442Chondrodysplasia punctata
rare developmental anomalies during embryogenesis; rare genetic diseases; rare bone diseases - ORPHA:79195Sterol biosynthesis disorder
rare developmental anomalies during embryogenesis; rare inborn errors of metabolism; rare genetic diseases
No children.
Codes that Orphanet moved or referred to this one:
- ORPHA:99645Dappled diaphyseal dysplasia moved to · inactive
Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| LBR | Disease-causing germline mutation(s) in | Assessed | HGNC:6518 | ENSG00000143815 | 600024 | 1q42.12 | lamin B receptor | 21327084[PMID] |
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 10 cases | Worldwide | Case(s) | Validated | 14684697[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | 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
18 annotations · validated 2016-06-01| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0011849 | Abnormal bone ossification | |
| HP:0003312 | Abnormal form of the vertebral bodies | |
| HP:0001881 | Abnormal leukocyte morphology | |
| HP:0009106 | Abnormal pelvis bone ossification | |
| HP:0100569 | Abnormally ossified vertebrae | |
| HP:0006619 | Anterior rib punctate calcifications | |
| HP:0001156 | Brachydactyly | |
| HP:0001004 | Lymphedema | |
| HP:0002983 | Micromelia | |
| HP:0000926 | Platyspondyly | |
| HP:0008905 | Rhizomelia | |
| HP:0008890 | Severe short-limb dwarfism | |
| Frequent (79-30%) | ||
| HP:0004331 | Decreased skull ossification | |
| HP:0000347 | Micrognathia | |
| HP:0011800 | Midface retrusion | |
| HP:0000774 | Narrow chest | |
| HP:0100602 | Preeclampsia | |
| HP:0001362 | Skull defect | |
Run the differential on the 12 obligate / very frequent terms
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/1426
- This record as JSON: /data/d/1426.json