ORPHA:2719
Oculocerebral hypopigmentation syndrome, Cross type
Also known as: Cross syndrome
Publications
454
83.9th percentile
Trials
56
Interventional, condition-specific
Researchers
1,012
Distinct authors in sample
Gene link
—
Readiness
2/6
Stages with a signal
Clinical definition (Orphanet)
Oculocerebral hypopigmentation syndrome, Cross type is a rare syndrome characterized by cutaneous and ocular hypopigmentation, various ocular anomalies (e.g. corneal and lens opacity, spastic ectropium, and/or nystagmus), growth deficiency, intellectual deficit and other neurologic anomalies such as spastic tetraplegia, hyperreflexia, and/or athetoid movements. The clinical picture varies among patients and may also include other anomalies such as urinary tract abnormalities, Dandy-Walker malformations, and/or bilateral inguinal hernia.
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:0009767
- OMIM:257800
- UMLS:C2936910
Additional Mondo synonyms (1)
Oculocerebral Syndrome with Hypopigmentation
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
An interventional trial matched this condition name on ClinicalTrials.gov — see trials below.
- Gene identifiedNot found
No GenCC disease–gene assertion in this build
- LiteraturePresent
454 matched papers (281 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 trialPresent
56 matched on ClinicalTrials.gov (22 recruiting in sample)
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?
Not yet — the cause hasn't been pinned down in GenCC.
No strong gene–disease assertion joined for this Orphanet entity.
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?
454
454 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.
454 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).
281 in the last 10 years · medium confidence · 83.9th percentile (publications denominator)
Phrase hits: 454 · MeSH hits: 0
Who's working on it?
1,012
Distinct author names in 200 sampled papers — named people below.
Who's working on it?
People publishing on this condition (sampled Europe PMC records). Affiliation is the most recent found in that sample.
- 01LeDoux MS5 papers · 2024
Department of Psychology, University of Memphis, Memphis TN and Veracity Neuroscience LLC, Memphis, Tennessee, United States of America.
Papers in Europe PMC - 02
- 03Hakuno Y4 papers · 2025
Global Research Institute, Keio University, Tokyo, Japan.
Papers in Europe PMC - 04Hirai M4 papers · 2025
Department of Cognitive and Psychological Sciences, Graduate School of Informatics, Nagoya University, Furo-cho, Chikusa-ku, 464-8601, Nagoya, Japan. hirai@i.nagoya-u.ac.jp.
Papers in Europe PMC - 05Ikeda A4 papers · 2025
Department of Psychology, Senshu University, Kanagawa, Japan.
Papers in Europe PMC - 06Ikeda T4 papers · 2025
Department of Pediatrics, Jichi Medical University, Tochigi, Japan.
Papers in Europe PMC - 07Kato T4 papers · 2025
Faculty of Rehabilitation, Kansai Medical University, Hirakata, Osaka, Japan.
Papers in Europe PMC - 08Moss T4 papers · 2023
Laboratory of Growth and Development, St-Patrick Research Group in Basic Oncology, Cancer Division of the Quebec University Hospital Research Centre, Québec, Canada.
Papers in Europe PMC - 09Yamagata T4 papers · 2025
Department of Pediatrics, Jichi Medical University, Tochigi, Japan.
Papers in Europe PMC - 10Alfieri P3 papers · 2022
Child and Adolescent Neuropsychiatry Unit, Department of Neuroscience, Bambino Gesù Children's Hospital, IRCCS, 00153 Rome, Italy.
Papers in Europe PMC
Clinical research
Is a treatment being tested?
56
interventional trials for this specific condition
56 interventional trials matched this specific condition name; 22 currently recruiting in our sample.
Data as of 27 July 2026
56 interventional trials — more than 73% of diseases in the trials denominator have none at all (5114 of 7003; this disease is at the 97.3th percentile).
medium confidence · 97.3th percentile (trials denominator)
Recruiting interventional trials
From the matched ClinicalTrials.gov set
56 interventional trials matched after quoted-phrase search and title/condition post-filter.
- NCT07628413·RECRUITING·Comparative Effects of Egoscue and Feldenkrais Exercises on in Upper Cross Syndrome
Conditions: Upper Cross Syndrome·Matched via name phrase
- NCT06797414·RECRUITING·Comparison of Pilate Exercises With and Without Whole Body Vibration in Patient With Upper Cross Syndrome
Conditions: Upper Cross Syndrome·Matched via name phrase
- NCT06800573·NOT YET RECRUITING·Smartphone Application with Global Postural Re-education in Patients with Upper Cross Syndrome
Conditions: Upper Cross Syndrome·Matched via name phrase
- NCT07573553·RECRUITING·Effectiveness of Rib Mobilization Combined With Postural Correction Exercises in Individuals With Upper Crossed Syndrome
Conditions: Upper Cross Syndrome·Matched via name phrase
- NCT07526051·RECRUITING·Effects of Autogenic Inhibition Versus Reciprocal Inhibition in Individuals With Lower Cross Syndrome
Conditions: Lower Cross Syndrome·Matched via name phrase
- NCT06613607·RECRUITING·Effects of Core Strengthening on Pelvic Tilt, Dynamic Balance and Agility in Lower Cross Syndrome: a Quasi-experimental Study
Conditions: Lower Cross Syndrome·Matched via name phrase
- NCT07026084·RECRUITING·Effects of Biofeedback-Guided Training on Muscle Strength and Postural Alignment in Upper Cross Syndrome.
Conditions: Upper Extremity Problem · Muscle Weakness · Postural Kyphosis·Matched via name phrase
- NCT07588061·RECRUITING·Comparative Effect of Maitland Mobilization Combined With Kendall Exercises for Pain and Postural Alignment in Adults With Upper Cross Syndrome
Conditions: Upper Cross Syndrome·Matched via name phrase
- NCT07025993·RECRUITING·Effects of Muscle Energy Technique Versus Cervical and Scapulothoracic Stabilization Exercises in Upper Crossed Syndrome
Conditions: Upper Cross Syndrome·Matched via name phrase
- NCT07061782·RECRUITING·Effects of Neuromuscular Reeducation Versus Post Facilitation Stretch Technique for Upper Cross Syndrome Among IT Professionals
Conditions: Upper Cross Syndrome·Matched via name phrase
- NCT06737900·RECRUITING·Effects Of Jandas Approach Vs PNF Technique On Pain, ROM, Disability, Endurance And QOL In Patients With LCS
Conditions: Lower Cross Syndrome·Matched via name phrase
- NCT07698392·NOT YET RECRUITING·Dynamic Neuromuscular Stabilization Versus Corrective Exercises in Upper Cross Syndrome
Conditions: Upper Crossed Syndrome · Upper Cross Syndrome · Upper Crossed Syndorme·Matched via name phrase
- NCT06648070·RECRUITING·"Effects of Neuromuscular Reeducation Versus Post Facilitation Stretch Technique for Upper Cross Syndrome Among IT Professionals
Conditions: Upper Cross Syndrome·Matched via name phrase
- NCT07435519·NOT YET RECRUITING·Effects of Klapp Method in Upper Cross Syndrome Patients
Conditions: Upper Cross Syndrome·Matched via name phrase
- NCT07248748·RECRUITING·Effects of Alexander Technique in Children With Upper Cross Syndrome.
Conditions: CHILD Syndrome·Matched via name phrase
Observational and natural-history studies
4 observational studies match this condition. These do not test a treatment and are not counted in the interventional-trial headline, but they are genuine research: natural-history work often defines the endpoints needed for a future rare-disease trial, and families may be able to enroll.
Recruiting or not-yet-recruiting
- NCT06766955·NOT YET RECRUITING·Prevalence of Lower Cross Syndrome Among Female College Students and Its Relation With Dysmenorrhea
Conditions: Cross Syndrome·Matched via name phrase
- NCT06801613·NOT YET RECRUITING·Upper Cross Syndrome and Neck Proprioception
Conditions: Upper Cross Syndrome·Matched via name phrase
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.
"Oculocerebral hypopigmentation syndrome, Cross type" OR "Cross syndrome" OR "Oculocerebral Syndrome with Hypopigmentation"
ClinicalTrials.gov query (quoted phrases + MeSH via query.cond, plus recall-expansion terms when used):
"Oculocerebral hypopigmentation syndrome, Cross type" OR "Cross syndrome" OR "Oculocerebral Syndrome with Hypopigmentation"
Interventional trials matched via: phrase (mesh = registered under a MeSH descriptor no name phrase would catch; recall-expansion = gene / selected parent terms used only for trials).
Study-type breakdown: 56 interventional · 4 observational · 0 expanded access. Only interventional studies enter the trial headline.
Query health: ok — strategies attempted: phrase; with hits: phrase
Run this search on ClinicalTrials.gov
Confidence reasoning
- Preferred label is multi-word and distinctive
- No synonyms dropped by stoplist
- No label/synonym collisions with other diseases in this corpus
- Publication count (454) is high for prevalence class "<1 / 1 000 000" — confidence capped at medium
Ingested 2026-07-26T20:58:02.707Z