ORPHA:73230
Ossification anomalies-psychomotor developmental delay syndrome
- Type
- Disease
- Group
- Disorder
- Age of onset
- Infancy, Neonatal
- Status
- active
A rare primary bone dysplasia characterized by global developmental delay, hypotonia, ossification anomalies of the cranial vault, abnormalities of the long bones due to defective remodeling, thoracic deformity, and progressive osteopenia. Dysmorphic craniofacial features include microcephaly, hypertelorism, narrow mouth, cleft palate, and micrognathia.
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Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Ossification anomalies-psychomotor developmental delay syndrome | |
| fr | Syndrome d'anomalies de l'ossification-retard psychomoteur | |
| de | Syndrom der Ossifikationsstörung mit psychomotorischer Entwicklungsverzögerung | |
| es | Síndrome de anomalías de la osificación-retraso del desarrollo psicomotor | |
| it | Sindrome anomalie dell'ossificazione e ritardo dello sviluppo psicomotorio | |
| nl | Ossificatieanomalieën - psychomotorische ontwikkelingsachterstand-syndroom | |
| pt | Síndrome de anomalias da ossificação-atraso do desenvolvimento psicomotor | |
| pl | Zaburzenia kostnienia - opóźnienie rozwoju psychomotorycznego | |
| cs | Syndrom zahrnující osifikační anomálie a opožděný psychomotorický vývoj | |
| uk | Синдром аномалії окостеніння-затримки психомоторного розвитку | |
| zh | 骨化异常-精神运动发育迟缓综合征 | |
| tr | Ossifikasyon anomalileri-psikomotor gelişme geriliği sendromu |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| ICD-10 | Q79.8 | NTBT | attributed | validated |
| ICD-11 | FB83.0Y | NTBT | index | validated |
| MONDO | 0019131 | E | validated | |
| UMLS | C4302826 | 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 (4):
- 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:182108Thoracic malformation
rare respiratory diseases
No children.
4
Genes
0 directOrphanet records no gene directly on this code.
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Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 2 cases | Worldwide | Case(s) | Validated | 16086393[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_16086393[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
36 annotations · validated 2019-03-27| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Frequent (79-30%) | ||
| HP:0011849 | Abnormal bone ossification | |
| HP:0000940 | Abnormal diaphysis morphology | |
| HP:0002910 | Elevated circulating hepatic transaminase concentration | |
| HP:0006462 | Generalized bone demineralization | |
| HP:0001290 | Generalized hypotonia | |
| HP:0001263 | Global developmental delay | |
| HP:0002240 | Hepatomegaly | |
| HP:0000348 | High forehead | |
| HP:0100774 | Hyperostosis | |
| HP:0000316 | Hypertelorism | |
| HP:0003016 | Metaphyseal widening | |
| HP:0000347 | Micrognathia | |
| HP:0000774 | Narrow chest | |
| HP:0000520 | Proptosis | |
| Occasional (29-5%) | ||
| HP:0003312 | Abnormal form of the vertebral bodies | |
| HP:0000765 | Abnormal thorax morphology | |
| HP:0001344 | Absent speech | |
| HP:0000463 | Anteverted nares | |
| HP:0100759 | Clubbing of fingers | |
| HP:0003199 | Decreased muscle mass | |
| HP:0002194 | Delayed gross motor development | |
| HP:0002015 | Dysphagia | |
| HP:0002020 | Gastroesophageal reflux | |
| HP:0031207 | Hepatic hemangioma | |
| HP:0000239 | Large fontanelles | |
| HP:0003244 | Penile hypospadias | |
| HP:0008897 | Postnatal growth retardation | |
| HP:0002100 | Recurrent aspiration pneumonia | |
| HP:0000586 | Shallow orbits | |
| HP:0009237 | Short 5th finger | |
| HP:0009882 | Short distal phalanx of finger | |
| HP:0003100 | Slender long bone | |
| HP:0000883 | Thin ribs | |
| HP:0000325 | Triangular face | |
| HP:0009875 | Triangular shaped distal phalanges of the hand | |
| HP:0002119 | Ventriculomegaly | |
Annotation source: 16086393[PMID]
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/73230
- This record as JSON: /data/d/73230.json