ORPHA:557003
Oculoskeletodental syndrome
Synonyms: Oculo-skeleto-dental syndrome
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Adolescent, Adult, Childhood
- Status
- active
A rare ciliopathy characterized by congenital cataract with secondary glaucoma, developmental delay, short stature, multiple skeletal abnormalities (spinal deformities, limb anomalies, delayed bone age), dental anomalies (oligodontia, enamel defects), dysmorphic facial features (including coarse facies, low hairline, epicanthal folds, flat and broad nasal bridges, and retrognathia), and stroke. Other recurrent manifestations are hearing loss and nephrocalcinosis.
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Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Oculoskeletodental syndrome | Oculo-skeleto-dental syndrome |
| fr | Syndrome oculo-squeletto-dentaire | |
| de | Okuloskeletodentales Syndrom | |
| es | Síndrome oculoesqueletodental | Síndrome óculo-esquelético-dental |
| it | Sindrome oculo-cerebro-dentale | Sindrome oculo-scheletro-dentale |
| nl | Oculoskeletodentaal syndroom | Oculo-skeleto-dentaal syndroom |
| pt | Síndrome oculoesqueletodentária | Síndrome óculo-esqueleto-dentária |
| pl | Zespół oczno-mózgowo-zębowy | = en |
| cs | Okuloskeletodentální syndrom | = en |
| uk | Окулоскелетно-зубний синдром | Окуло-скелето-стоматологічний синдром |
| zh | 眼-脑-肾综合征 | Oculo-cerebro-dental syndrome |
| tr | Oküloserebrodental sendrom | Okülo-serebro-dental sendrom |
Definition in:
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Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 618440 | E | validated | |
| ICD-10 | Q87.8 | NTBT | attributed | validated |
| ICD-11 | LD2F.1Y | NTBT | attributed | validated |
| MONDO | 0034145 | E | validated | |
| MONDO | 34145 | E | validated | |
| UMLS | C5193101 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
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Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (9):
- ORPHA:363250Ciliopathy
rare genetic diseases - 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:93447Primary bone dysplasia with defective bone mineralization
rare developmental anomalies during embryogenesis; rare genetic diseases; rare bone diseases - ORPHA:98027Rare disease with odontological manifestation
rare odontological diseases - ORPHA:77830Rare genetic odontologic disease
rare genetic diseases - ORPHA:90642Rare syndromic genetic deafness
rare developmental anomalies during embryogenesis; rare genetic diseases; rare otorhinolaryngological diseases - ORPHA:98641Syndromic cataract
rare ophthalmic disorders - ORPHA:522548Syndromic genetic cataract
rare genetic diseases
No children.
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Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| PIK3C2A | Disease-causing germline mutation(s) (loss of function) in | Assessed | HGNC:8971 | ENSG00000011405 | 603601 | 11p15.1 | phosphatidylinositol-4-phosphate 3-kinase catalytic subunit type 2 alpha | 31034465[PMID] |
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Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 5 cases | Worldwide | Case(s) | Validated | 31034465[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_31034465[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.
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HPO phenotypes
38 annotations · validated 2020-06-16| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Frequent (79-30%) | ||
| HP:0001999 | Abnormal facial shape | |
| HP:0011020 | Abnormality of mucopolysaccharide metabolism | |
| HP:0000164 | Abnormality of the dentition | |
| HP:0000599 | Abnormality of the frontal hairline | |
| HP:0000280 | Coarse facial features | |
| HP:0000519 | Developmental cataract | |
| HP:0000501 | Glaucoma | |
| HP:0000365 | Hearing impairment | |
| HP:0003072 | Hypercalcemia | |
| HP:0000121 | Nephrocalcinosis | |
| HP:0012758 | Neurodevelopmental delay | |
| HP:0004322 | Short stature | |
| HP:0001328 | Specific learning disability | |
| HP:0001297 | Stroke | |
| Occasional (29-5%) | ||
| HP:0010663 | Abnormality of thalamus morphology | |
| HP:0010761 | Broad columella | |
| HP:0030084 | Clinodactyly | |
| HP:0000405 | Conductive hearing impairment | |
| HP:0002750 | Delayed skeletal maturation | |
| HP:0005280 | Depressed nasal bridge | |
| HP:0006989 | Dysplastic corpus callosum | |
| HP:0006297 | Enamel hypoplasia | |
| HP:0000286 | Epicanthus | |
| HP:0007042 | Focal white matter lesions | |
| HP:0003307 | Hyperlordosis | |
| HP:0002901 | Hypocalcemia | |
| HP:0003090 | Hypoplasia of the capital femoral epiphysis | |
| HP:0100255 | Metaphyseal dysplasia | |
| HP:0000691 | Microdontia | |
| HP:0002300 | Mutism | |
| HP:0000677 | Oligodontia | |
| HP:0000278 | Retrognathia | |
| HP:0002650 | Scoliosis | |
| HP:0000407 | Sensorineural hearing impairment | |
| HP:0009237 | Short 5th finger | |
| HP:0009928 | Thick nasal alae | |
| HP:0002942 | Thoracic kyphosis | |
| HP:0000431 | Wide nasal bridge | |
Annotation source: 31034465[PMID]
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/557003
- This record as JSON: /data/d/557003.json