Opsismodysplasia
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Neonatal
- Status
- active
A rare skeletal dysplasia characterized by pre-or postnatal severe rhizomelic micromelia with short long bones (congenital dwarfism), extremely short feet and hands, major delay in skeletal ossification, metaphyseal cupping, severe platyspondyly, muscular hypotonia and facial dysmorphism (including macrocephaly, large anterior fontanelle, arched and prominent eyebrows, hypertelorism, exophthalmos, depressed nasal bridge, small anteverted nose with relatively broad nares, long philtrum and thin upper lip). Patients also present with short neck, narrow, bell-shaped thorax. Circumferential skin creases (especially in the upper arms, hands, and feet) and recurrent respiratory tract infections (that followed a fatal course in some cases) have also been reported.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Opsismodysplasia | |
| fr | Opsismodysplasie | |
| de | Opsismodysplasie | |
| es | Opsismodisplasia | |
| it | Opsimodisplasia | |
| nl | Opsismodysplasie | |
| pt | Opsismodisplasia | |
| pl | Opsizmodysplazja | |
| cs | Opsismodysplázie | |
| uk | Опсисмодисплазія | |
| zh | 脊椎骨骺发育不良症 | |
| tr | Opsismodisplazi |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 258480 | E | validated | |
| ICD-10 | Q78.8 | NTBT | attributed | validated |
| ICD-11 | LD24.5Y | NTBT | index | validated |
| MONDO | 0009785 | E | validated | |
| MeSH | C537122 | E | validated | |
| UMLS | C0432219 | E | validated | |
| GARD | 4098 | 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 |
|---|---|---|---|---|---|---|---|---|
| INPPL1 | Disease-causing germline mutation(s) in | Assessed | HGNC:6080 | ENSG00000165458 | 600829 | 11q13.4 | inositol polyphosphate phosphatase like 1 | 23273567[PMID]_23263569[PMID] |
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 30 cases | Worldwide | Case(s) | Validated | 23273569[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
27 annotations · validated 2016-06-01| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0000944 | Abnormal metaphysis morphology | |
| HP:0005930 | Abnormality of epiphysis morphology | |
| HP:0100569 | Abnormally ossified vertebrae | |
| HP:0001156 | Brachydactyly | |
| HP:0002750 | Delayed skeletal maturation | |
| HP:0005280 | Depressed nasal bridge | |
| HP:0002007 | Frontal bossing | |
| HP:0003175 | Hypoplastic ischia | |
| HP:0003173 | Hypoplastic pubic bone | |
| HP:0008479 | Hypoplastic vertebral bodies | |
| HP:0000239 | Large fontanelles | |
| HP:0000256 | Macrocephaly | |
| HP:0002093 | Respiratory insufficiency | |
| HP:0003510 | Severe short stature | |
| HP:0003196 | Short nose | |
| HP:0003177 | Squared iliac bones | |
| HP:0001182 | Tapered finger | |
| Frequent (79-30%) | ||
| HP:0005469 | Flat occiput | |
| HP:0001252 | Hypotonia | |
| HP:0002205 | Recurrent respiratory infections | |
| Occasional (29-5%) | ||
| HP:0000592 | Blue sclerae | |
| HP:0011304 | Broad thumb | |
| HP:0002240 | Hepatomegaly | |
| HP:0001387 | Joint stiffness | |
| HP:0000774 | Narrow chest | |
| HP:0000767 | Pectus excavatum | |
| HP:0001744 | Splenomegaly | |
Run the differential on the 12 obligate / very frequent terms
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/2746
- This record as JSON: /data/d/2746.json