Spondylometaphyseal dysplasia-corneal dystrophy syndrome
Synonyms: SMD-corneal dystrophy syndrome
- Type
- Malformation syndrome
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Neonatal
- Status
- active
A rare genetic multiple congenital anomalies/dysmorphic syndrome characterized by developmental delay with intellectual disability, postnatal growth deficiency causing profound limb shortening with proximal and distal segments involvement, narrow chest, abnormalities of the spine, pelvis, and metaphyses, corneal clouding, and patent ductus arteriosus. Dysmorphic facial features include hypertelorism, prominent eyes, depressed nasal bridge, and short upturned nose.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Spondylometaphyseal dysplasia-corneal dystrophy syndrome | SMD-corneal dystrophy syndrome |
| fr | Syndrome de dysplasie spondylo-métaphysaire-dystrophie cornéenne | |
| de | Spondylometaphysäre Dysplasie-Hornhautdystrophie-Syndrom | SMD-Hornhautdystrophie-Syndrom |
| es | Síndrome de displasia espondilometafisaria-distrofia corneal | Síndrome de SMD-distrofia corneal |
| it | Sindrome da displasia spondilometafisaria e distrofia della cornea | Sindrome da DSM e distrofia della cornea |
| nl | Spondylometafysaire dysplasie - corneadystrofie-syndroom | SMD - corneadystrofie-syndroom |
| pt | Síndrome de displasia espondilometafisária-distrofia da córnea | |
| pl | Zespół dysplazji kręgosłupowo-przynasadowej i dystrofii rogówki | = en |
| cs | Syndrom spondylometafyzální dysplázie a rohovkové dystrofie | = en |
| uk | Синдром спондилометафізарної дисплазії - дистрофії рогівки | Синдром дегенеративної дистрофії рогівки |
| zh | Spondylometaphyseal dysplasia-corneal dystrophy syndrome | = en |
| tr | Spondylometaphyseal dysplasia-corneal dystrophy syndrome | = en |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 618961 | E | validated | |
| ICD-10 | Q87.8 | NTBT | attributed | validated |
| ICD-11 | LD24.5Y | NTBT | attributed | validated |
| MONDO | 0030074 | E | validated | |
| UMLS | C5394555 | 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 (5):
- ORPHA:611327Genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability
rare genetic diseases - ORPHA:102283Multiple congenital anomalies/dysmorphic syndrome-intellectual disability
rare developmental anomalies during embryogenesis; rare neurological diseases - ORPHA:156532Rare syndrome with cardiac malformations
rare developmental anomalies during embryogenesis; rare cardiac malformations; rare genetic diseases - ORPHA:254Spondylometaphyseal dysplasia
rare developmental anomalies during embryogenesis; rare genetic diseases; rare bone diseases - ORPHA:98628Syndromic corneal dystrophy
rare genetic diseases; rare ophthalmic disorders
No children.
Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| PLCB3 | Disease-causing germline mutation(s) in | Assessed | HGNC:9056 | ENSG00000149782 | 600230 | 11q13.1 | phospholipase C beta 3 | 29122926[PMID] |
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 2 cases | Worldwide | Case(s) | Validated | 29122926[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | 29122926[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/589435
- This record as JSON: /data/d/589435.json