ORPHA:720326
Developmental delay-cervical spine anomalies-facial dysmorphism-intellectual disability syndrome
Synonyms: Al Kaissi syndrome · CDK10-related neurodevelopmental disorder
- Type
- Malformation syndrome
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Antenatal
- Status
- active
Orphadata ships no English definition for this code.
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Names in Orphadata languages
9 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Developmental delay-cervical spine anomalies-facial dysmorphism-intellectual disability syndrome | Al Kaissi syndrome · CDK10-related neurodevelopmental disorder |
| fr | Syndrome de retard du développement-anomalies du rachis cervical-dysmorphie faciale-déficience intellectuelle | Syndrome d'Al Kaissi · Trouble du neurodéveloppement associé à CDK10 |
| de | Entwicklungsverzögerung-Halswirbelsäulenanomalien-Gesichtsdysmorphie-Intelligenzminderung-Syndrom | CDK10-assoziierte neurologische Entwicklungsstörung · Al Kaissi-Syndrom |
| es | Síndrome de retraso del desarrollo-anomalías de la columna cervical-dismorfia facial-discapacidad intelectual | Síndrome de Al Kaissi · Trastorno del neurodesarrollo asociado a CDK10 |
| it | Sindrome ritardo dello sviluppo-anomalie della colonna cervicale-dismorfismi facciali-disabilità intellettiva | Sindrome di Al Kaissi · Malattia del neurosviluppo correlata a CDK10 |
| nl | Ontwikkelingsachterstand - anomalieën van cervicale wervelkolom - faciale dysmorfie - intellectuele achterstand-syndroom | Syndroom van Al Kaissi · CDK10-gerelateerde neurologische ontwikkelingsstoornis |
| pt | Developmental delay-cervical spine anomalies-facial dysmorphism-intellectual disability syndrome | |
| pl | Developmental delay-cervical spine anomalies-facial dysmorphism-intellectual disability syndrome | = en |
| cs | Developmental delay-cervical spine anomalies-facial dysmorphism-intellectual disability syndrome | = en |
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Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 617694 | 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 (3):
- ORPHA:93454Dysostosis with predominant vertebral and costal involvement
rare developmental anomalies during embryogenesis; rare genetic diseases; rare bone 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
No children.
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Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| CDK10 | Disease-causing germline mutation(s) in | Assessed | HGNC:1770 | ENSG00000185324 | 603464 | 16q24.3 | cyclin dependent kinase 10 | 28886341[PMID] |
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Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 9 cases | Worldwide | Case(s) | Validated | ORPHANET | |
| 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.
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HPO phenotypes
Orphanet has no HPO annotation for this code in this release.
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/720326
- This record as JSON: /data/d/720326.json