ORPHA:251383
CK syndrome
Also known as: X-linked intellectual disability-microcephaly-cortical malformation-thin habitus syndrome
Query health: suspect — Only one of 2 strategies returned hits (phrase).
Publications
51
43.1th percentile
Trials
0
Interventional, condition-specific
Researchers
326
Distinct authors in sample
Gene link
NSDHL
Definitive
Readiness
2/6
Stages with a signal
Clinical definition (Orphanet)
CK syndrome is a rare, genetic, X-linked syndromic disorder characterized by mild to severe , infancy-onset , post-natal microcephaly, cerebral cortical malformations, 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, , spasticity, optic disc atrophy, and behavioral problems (aggression, attention deficit hyperactivity disorder and irritability) are additional features.
How rare: <1 / 1 000 000 — fewer than one in a million. In a city the size of Kolkata, that might mean on the order of fifteen people.
Cross-references
Joined from Mondo / Orphanet. MeSH labels may enter searches; UMLS / OMIM / NCIT are stored for reference.
- MONDO:0010441
- OMIM:300831
- UMLS:C3151781
Additional Mondo synonyms (1)
CK syndrome, X-linked recessive
Research stages
Trial readiness signals
Where this condition sits on an open-data research pipeline — not how close a treatment is, and not medical advice. Empty stages often mean “not in these databases under this Mondo ID,” not “impossible.”
2/6 stages with a signal
No matched interventional trial; the gene is known and literature exists — preclinical or natural-history work may still be the practical next step.
- Gene identifiedPresent
Definitive — NSDHL
- LiteraturePresent
51 matched papers (29 in last 10 years) Source
- Phenotype characterisedNot checked
Not yet enriched from Monarch / HPO
- Animal modelNot checked
Not yet enriched from Monarch / Alliance
- Orphan designationNot checked
FDA/EMA orphan-drug designation not enriched yet
- Interventional trialNot found
No matched interventional trial under our ClinicalTrials.gov rules
Biology
Genes and phenotypes
Gene–disease validity from GenCC, plus phenotypes and animal models joined from Monarch Initiative via Mondo ID — not a clinical diagnosis aid.
Do we know what causes it?
Yes — we know a specific gene responsible (NSDHL).
GenCC classification: Definitive.
Phenotypes (Monarch / HPO)
Not enriched in this build — Monarch phenotype joins were not run for this record.
Animal models (Monarch / Alliance)
Not enriched in this build.
Literature
Is anyone studying this?
51
51 papers have ever been published on this condition (under this name). For scale, breast cancer has over 700,000. Median papers in the last 10 years for a rare disease in this dataset (publications denominator n=5449) is 41.
51 papers since the earliest indexed year in this search — median last-10-year count for a rare disease in this dataset is 41 (publications denominator n=5449).
29 in the last 10 years · medium confidence · 43.1th percentile (publications denominator)
Phrase hits: 51 · MeSH hits: 0
Who's working on it?
326
Distinct author names in 51 sampled papers — named people below.
Who's working on it?
No interventional trial matched this name; these authors publish on it in the sampled literature — a practical starting point for contact.
- 01Herman GE4 papers · 2015
Center for Molecular and Human Genetics, The Research Institute at Nationwide Children's Hospital and Department of Pediatrics, The Ohio State University, Columbus, OH, USA, gail.herman@nationwidechildrens.org.
Papers in Europe PMC - 02Steiner RD4 papers · 2015
Department of Pediatrics, Department of Molecular and Medical Genetics and Institute on Development and Disability, Doernbecher Children's Hospital, Oregon Health & Science University, Portland, OR, USA and Marshfield Clinic Research Foundation and the Department of Pediatrics, University of Wisconsin School of Medicine and Public Health, Marshfield and Madison, WI, USA.
Papers in Europe PMC - 03Boerkoel CF3 papers · 2012Papers in Europe PMC
- 04Kelley RI3 papers · 2016
Department of Genetics & Genomics, Boston Children's Hospital, Boston, MA 02115, USA.
Papers in Europe PMC - 05Kratz LE3 papers · 2016
Kennedy Krieger Institute, Johns Hopkins University, Baltimore, MD 21205, USA.
Papers in Europe PMC - 06Arbour L2 papers · 2010Papers in Europe PMC
- 07Chou A2 papers · 2010Papers in Europe PMC
- 08Cunningham D2 papers · 2015
Center for Molecular and Human Genetics, The Research Institute at Nationwide Children's Hospital and Department of Pediatrics, The Ohio State University, Columbus, OH, USA.
Papers in Europe PMC - 09
- 10du Souich C2 papers · 2010
Rare Disease Foundation, Vancouver, British Columbia, Canada. cdusouich@cw.bc.ca
Papers in Europe PMC
Clinical research
Is a treatment being tested?
0
interventional trials for this specific condition
No interventional trial testing a treatment matched this specific condition name on ClinicalTrials.gov (observational studies and pan-disease registries are listed separately when present).
Data as of 27 July 2026
No matched interventional trials. This is true for 73% of diseases in the trials denominator (5114 of 7003). Here are the researchers publishing on it.
medium confidence · 36.5th percentile (trials denominator)
Recruiting interventional trials
From the matched ClinicalTrials.gov set
No interventional trial testing a treatment was found for this specific condition name on ClinicalTrials.gov.
See who's working on it — people publishing on this disease are often the practical next contact when no trial is listed.
Where to find support
We do not yet link condition-specific patient organisations. These umbrella groups support undiagnosed and ultra-rare families:
India — NPRD
Last verified 2026-07-26This ORPHAcode is not on our curated NPRD list (direct or Mondo-parent match). That does not decide clinical eligibility; families in India should ask a notified Centre of Excellence about current coverage.
Hand-curated for this project. ORPHAcode mappings are best-effort and may be incomplete or imprecise for umbrella categories. Parent (Mondo) matches mean the policy lists a broader category — confirm eligibility with a Centre of Excellence. Financial entitlements summarised from public policy statements and may change. This is not official government guidance.
How we counted this
Europe PMC query (preferred label + any corrected label + Orphanet and Mondo exact synonyms, stoplisted; unioned with resolved MeSH labels when available). UMLS / OMIM / NCIT cross-references are stored on the overview but are not added to the query string.
"CK syndrome" OR "X-linked intellectual disability-microcephaly-cortical malformation-thin habitus syndrome" OR "CK syndrome, X-linked recessive"
ClinicalTrials.gov query (quoted phrases + MeSH via query.cond, plus recall-expansion terms when used):
"CK syndrome" OR "X-linked intellectual disability-microcephaly-cortical malformation-thin habitus syndrome" OR "CK syndrome, X-linked recessive" OR "NSDHL"
Recall-expansion terms: NSDHL
Study-type breakdown: 0 interventional · 0 observational · 0 expanded access. Only interventional studies enter the trial headline.
Query health: suspect — strategies attempted: phrase, recall-expansion; with hits: phrase
Run this search on ClinicalTrials.gov
Confidence reasoning
- Preferred label is short or not clearly distinctive
- No synonyms dropped by stoplist
- No label/synonym collisions with other diseases in this corpus
Ingested 2026-07-27T10:46:06.877Z