Otopalatodigital syndrome spectrum disorder
Synonyms: OPD spectrum disorder · OPSD
- Type
- Clinical group
- Group
- Group of disorders
- Status
- active
Otopalatodigital syndrome spectrum disorder is a primary bone dysplasia and encompasses a group of congenital anomalies that are characterized by skeletal dysplasia of varying clinical severity and an X linked dominant pattern of inheritance. This group includes otopalatodigital syndrome type 1 and 2 (OPD1, OPD2) which are characterized in affected males by cleft palate, conductive hearing loss, craniofacial abnormalities and skeletal dysplasia; Melnick-Needles syndrome (MNS) which displays skeletal deformities in females and embryonic or perinatal lethality in most males; frontometaphyseal dysplasia (FMD); and terminal osseous dysplasia - pigmentary defects.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Otopalatodigital syndrome spectrum disorder | OPD spectrum disorder · OPSD |
| fr | Spectre phénotypique des ostéodysplasies oto-palato-digitales | OPSD · Spectre phénotypique des ostéodysplasies OPD · Spectre phénotypique des ostéodysplasies fronto-oto-palato-digitales |
| de | Syndrome des otopalatodigitalen Spektrums | OPD-Spektrum-Krankheiten · OPSD |
| es | Trastorno del espectro del síndrome otopalatodigital | OPSD · Trastorno del espectro del OPD |
| it | Malattie dello spettro della sindrome oto-palato-digitale | Malattia con spettro della OPD · OPSD |
| nl | Otopalatodigitaal syndroom-spectrumstoornis | OPD-spectrumstoornis · OPSD |
| pt | Espectro clínico da síndrome otopalatodigital | |
| pl | Zaburzenia spektrum zespołu uszno-podniebienno-paliczkowego | OPSD · Zaburzenia spektrum OPD |
| cs | Nemoci ze spektra otopalatodigitálního syndromu | Poruchy OPD spektra · OPSD |
| uk | Порушення спектра отопалатодигітального синдрому | Порушення спектру OPD · OPSD |
| zh | 耳-腭-指综合征谱系障碍 | OPD谱系综合征 |
| tr | Otopalatodijital sendromu spektrum bozukluğu | OPSD · OPD spektrum bozukluğu |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| MONDO | 0018233 | E | validated | |
| MONDO | 18233 | E | validated | |
| MeSH | C567577 | E | validated | |
| UMLS | C2748918 | E | validated | |
| MedDRA | 10084408 | 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:93425Filamin-related bone disorder
rare genetic diseases - ORPHA:364526Primary bone dysplasia
rare developmental anomalies during embryogenesis; rare genetic diseases; rare bone diseases
Codes that Orphanet moved or referred to this one:
- ORPHA:669OBSOLETE: Otopalatodigital syndrome referred to · inactive
Genes
0 directOrphanet records no gene directly on this code.
Prevalence and incidence
0 recordsNo prevalence record in this release.
HPO phenotypes
Orphanet has no HPO annotation for this code in this release.
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/364541
- This record as JSON: /data/d/364541.json