CK syndrome
Synonyms: X-linked intellectual disability-microcephaly-cortical malformation-thin habitus syndrome
- Type
- Malformation syndrome
- Group
- Disorder
- Inheritance
- X-linked recessive
- Age of onset
- Infancy, Neonatal
- Status
- active
CK syndrome is a rare, genetic, X-linked syndromic intellectual disability disorder characterized by mild to severe intellectual disability, infancy-onset seizures, post-natal microcephaly, cerebral cortical malformations, dysmorphic facial features (including long, narrow face, almond-shaped palpebral fissures, epicanthic folds, high nasal bridge, malar flattening, posteriorly rotated ears, high arched palate, crowded teeth, micrognathia) and thin body habitus. Long and slim fingers/toes, strabismus, hypotonia, spasticity, optic disc atrophy, and behavioral problems (aggression, attention deficit hyperactivity disorder and irritability) are additional features.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | CK syndrome | X-linked intellectual disability-microcephaly-cortical malformation-thin habitus syndrome |
| fr | Syndrome CK | Syndrome de déficience intellectuelle liée à l'X-microcéphalie-malformation corticale-habitus mince |
| de | CK-Syndrom | X-chromosomale Intelligenzminderung-Mikrozephalie-kortikale Fehlbildung-schlanker Habitus-Syndrom |
| es | Síndrome CK | Discapacidad intelectual ligada al cromosoma X-microcefalia-malformación cortical-hábito delgado |
| it | Sindrome CK | Ritardo mentale legato all'X - microcefalia - malformazione corticale - habitus magro |
| nl | CK-syndroom | X-gebonden intellectuele achterstand - microcefalie - corticale malformatie - dunne habitus-syndroom |
| pt | Síndrome CK | Síndrome de perturbação do desenvolvimento intelectual ligada ao X-microcefalia-malformação cortical-habitus delgado |
| pl | Zespół CK | Niepełnosprawność intelektualna sprzęzona z chromosomem X - małogłowie - malformacja kory mózgu - szczupły wygląd |
| cs | CK syndrom | Syndrom zahrnující X-vázanou mentální retardaci, mikrocefalii, kortikální malformaci a astenický habitus |
| uk | CK cиндром | Х-зчеплений синдром розумової відсталості-мікроцефалії-кортикальної мальформації- тонкого габітусу |
| zh | CK综合征 | X连锁智力障碍-小头畸形-皮质畸形-瘦体质综合征 |
| tr | CK sendromu | X'e bağlı zihinsel yetersizlik-mikrosefali-kortikal malformasyon-ince habitus sendromu |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 300831 | E | validated | |
| ICD-10 | Q87.8 | NTBT | attributed | validated |
| ICD-11 | LD27.Y | NTBT | attributed | validated |
| MONDO | 0010441 | E | validated | |
| UMLS | C3151781 | 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 (4):
- ORPHA:269564Genetic syndrome with a central nervous system malformation as a major feature
rare genetic diseases - ORPHA:269531Other syndrome with a central nervous system malformation as a major feature
rare developmental anomalies during embryogenesis; rare neurological diseases - ORPHA:611314Rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome
rare genetic diseases; rare neurological diseases - ORPHA:79195Sterol biosynthesis disorder
rare developmental anomalies during embryogenesis; rare inborn errors of metabolism; rare genetic diseases
No children.
Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| NSDHL | Disease-causing germline mutation(s) (loss of function) in | Assessed | HGNC:13398 | ENSG00000147383 | 300275 | Xq28 | NAD(P) dependent 3-beta-hydroxysteroid dehydrogenase NSDHL | 21129721[PMID]_21290788[PMID] |
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 24 cases | Worldwide | Case(s) | Validated | 21290788[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_21290788[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
35 annotations · validated 2019-05-22| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0002538 | Abnormality of the cerebral cortex | |
| HP:0007874 | Almond-shaped palpebral fissure | |
| HP:0002381 | Aphasia | |
| HP:0025406 | Asthenia | |
| HP:0000750 | Delayed speech and language development | |
| HP:0000678 | Dental crowding | |
| HP:0000286 | Epicanthus | |
| HP:0001263 | Global developmental delay | |
| HP:0000218 | High palate | |
| HP:0001249 | Intellectual disability | |
| HP:0000737 | Irritability | |
| HP:0002751 | Kyphoscoliosis | |
| HP:0000276 | Long face | |
| HP:0100807 | Long fingers | |
| HP:0010511 | Long toe | |
| HP:0002938 | Lumbar hyperlordosis | |
| HP:0000272 | Malar flattening | |
| HP:0000252 | Microcephaly | |
| HP:0000308 | Microretrognathia | |
| HP:0000275 | Narrow face | |
| HP:0001302 | Pachygyria | |
| HP:0002126 | Polymicrogyria | |
| HP:0000358 | Posteriorly rotated ears | |
| HP:0000426 | Prominent nasal bridge | |
| HP:0001250 | Seizure | |
| HP:0002360 | Sleep abnormality | |
| HP:0001533 | Slender build | |
| HP:0000486 | Strabismus | |
| HP:0000582 | Upslanted palpebral fissure | |
| Frequent (79-30%) | ||
| HP:0000718 | Aggressive behavior | |
| HP:0000708 | Atypical behavior | |
| HP:0001290 | Generalized hypotonia | |
| HP:0000752 | Hyperactivity | |
| HP:0001382 | Joint hypermobility | |
| Excluded (0%) | ||
| HP:0003107 | Abnormality of cholesterol metabolism | |
Run the differential on the 12 obligate / very frequent terms
Annotation source: 19842190[PMID]_21129721[PMID]
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/251383
- This record as JSON: /data/d/251383.json