ORPHA:398069
Schaaf-Yang syndrome
Also known as: SYS
Query health: suspect — Only one of 2 strategies returned hits (phrase).
Publications
1,219
Trials
0
Interventional, condition-specific
Researchers
1,329
Distinct authors in sample
Gene link
MAGEL2
Definitive
Readiness
3/6
Stages with a signal
Clinical definition (Orphanet)
A rare imprinting disorder characterized by muscular , joint contractures/arthrogryposis, , usually mild to moderate , short stature, hypogonadism, autism spectrum disorder and, less often, hyperphagia and .
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:0014243
- MeSH:C535385
- OMIM:208080
- OMIM:615547
- UMLS:C5575066
Additional Mondo synonyms (3)
SHFYNG · arthrogryposis, distal, with hypopituitarism, intellectual disability, and facial anomalies · arthrogryposis, distal, with hypopituitarism, mental retardation, and facial anomalies
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.”
3/6 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 — MAGEL2
- LiteraturePresent
1,219 matched papers (864 in last 10 years) Source
- Phenotype characterisedPresent
130 HPO annotations (e.g. Feeding difficulties; Neurodevelopmental delay; Small scrotum) Source
- Animal modelNot found
No Alliance genotype “model of” associations via Monarch for these Mondo IDs
- Orphan designationNot found
No FDA or EMA orphan-drug designation matched this disease via UMLS or preferred name Source
- 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 (MAGEL2).
GenCC classification: Definitive.
Phenotypes (Monarch / HPO)
130
Associated phenotypes · MONDO:0014243
- Feeding difficulties
- Neurodevelopmental delay
- Small scrotum
- Clitoral hypoplasia
- Hypoplastic labia minora
Showing 5 of 130 — open Monarch for the full list.
Animal models (Monarch / Alliance)
None returned for this Mondo ID. Empty here is not proof that no model organism work exists under another name or gene.
Monarch fetch 2026-07-29
Therapies
Designations, candidates, and chemicals
FDA OOPD and EMA orphan designations, Open Targets clinical candidates, and CTD chemical associations via MyDisease.info. These never change the interventional-trial headline.
Orphan designation (FDA · EMA)
No designation matched this disease via UMLS or preferred name on the FDA OOPD mirror or EMA orphan register. Absence here is not proof that none exists under another wording.
Open Targets candidates
No drugs or clinical candidates returned for this Mondo ID on Open Targets.
CTD chemicals (MyDisease.info)
No CTD chemical associations returned for this Mondo ID.
Literature
Is anyone studying this?
1,219
1,219 papers have been published on this condition. That is a real research literature — still far smaller than common diseases (breast cancer: over 700,000 papers). Median papers in the last 10 years for a rare disease in this dataset (publications denominator n=3967) is 59.
1,219 papers since the earliest indexed year in this search — median last-10-year count for a rare disease in this dataset is 59 (publications denominator n=3967).
864 in the last 10 years · low confidence
Phrase hits: 245 · MeSH hits: 0
Who's working on it?
1,329
Distinct author names in 200 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.
- 01Schaaf CP30 papers · 2026
Institute of Human Genetics, Heidelberg University, Heidelberg, Germany.
Papers in Europe PMC - 02Muscatelli F8 papers · 2025
Aix Marseille University, INSERM, INMED, Marseille, France.
Papers in Europe PMC - 03Fon Tacer K6 papers · 2026
Cell and Molecular Biology Department, St. Jude Children's Research Hospital, Memphis, Tennessee, USA; School of Veterinary Medicine, Texas Tech University, Amarillo, Texas, USA. Electronic address: fontacer@ttu.edu.
Papers in Europe PMC - 04Wevrick R6 papers · 2022
Department of Medical Genetics, University of Alberta, Edmonton, AB T6G 2H7, Canada.
Papers in Europe PMC - 05Balcells S5 papers · 2024
Department of Genetics, Microbiology and Statistics, Faculty of Biology, University of Barcelona, IBUB, IRSJD, Barcelona, Spain.
Papers in Europe PMC - 06Butler MG5 papers · 2026
Department of Psychiatry and Behavioral Sciences and Pediatrics, University of Kansas Medical Center, Kansas City, KS, United States.
Papers in Europe PMC - 07Fountain MD5 papers · 2019
Translational Biology and Molecular Medicine, Baylor College of Medicine, Houston, TX 77030, USA; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA; Jan and Dan Duncan Neurological Research Institute, Texas Children's Hospital, Houston, TX 77030, USA.
Papers in Europe PMC - 08Grinberg D5 papers · 2024
Department of Genetics, Microbiology and Statistics, Faculty of Biology, University of Barcelona, IBUB, IRSJD, Barcelona, Spain.
Papers in Europe PMC - 09
- 10Urreizti R5 papers · 2024
Department of Genetics, Microbiology and Statistics, Faculty of Biology, University of Barcelona, IBUB, IRSJD, Barcelona, Spain.
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 11 September 2026 · last trial check 11 September 2026
No matched interventional trials. This is true for 77.2% of diseases in the trials denominator (5501 of 7126). Here are the researchers publishing on it.
low confidence · 38.6th 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.
Other registries (secondary)
Broader net from EU CTIS, ISRCTN, and ICTRP when available — deduped against ClinicalTrials.gov IDs already counted above. Dual-model LLM relevance gates what we keep. These rows are not added to the interventional headline.
raw 52 · after dedupe 52 · already on CT.gov 0 · kept 0 · parent 0 · uncertain 52 · dropped 0 · fetched 2026-07-30
Source notes: ictrp: Error: ICTRP public search unavailable (WHO portal is SPA-only; SOAP needs partnership). Tried: https://apps.who.int/tri
No secondary-registry studies passed dual-model relevance for this condition name (after dedupe).
Uncertain / not reviewed (52)
- ctis·2024-518861-90-00·Authorised·Thromboprophylaxis with apixaban during neoadjuvant therapy for muscle-invasive bladder cancer (ACB): An international randomized controlled trial evaluating apixaban versus no anticoagulation in patients scheduled to undergo radical cystectomy or chemoradiotherapy for muscle-invasive bladder cancer
skipped — LLM skipped (--skip-llm)
- ctis·2024-519787-40-00·Authorised, recruiting·A Phase III, Multicentre, Randomised Controlled Study of Sonesitatug vedotin in Combination with Capecitabine with or without Rilvegostomig in First-line Claudin18.2-positive, HER2-negative, Advanced/Metastatic Gastric, Gastroesophageal Junction, or Esophageal Adenocarcinoma (CLARITY-Gastric 02)
skipped — LLM skipped (--skip-llm)
- ctis·2023-509795-42-00·Authorised·TicAgreLor versus placebo to prevent cerebral ISCHemia in anEuRysmal low grade SAH A double blinded randomised controlled study TALISCHER - SAH
skipped — LLM skipped (--skip-llm)
- ctis·2025-524297-42-00·Authorised, ongoing·Duration of Dual Anti-Platelet Therapy in Chronic Limb Threatening Ischemia after Distal Revascularization: a randomized, double-blind trial
PALADIN [PeripherAL Arterial DIsease Network] -DAPTCLTI
skipped — LLM skipped (--skip-llm)
- ctis·2025-522060-32-00·Authorised·Randomised EValuation of Therapies for microvAscuLar Injury in STEACS – REVITALISE Study
skipped — LLM skipped (--skip-llm)
- ctis·2024-519833-51-00·Authorised·The efficacy of pipamperone and aripiprazole on behaviors that challenge in people with intellectual disabilities: A series of N-of-1 cross-over trials
skipped — LLM skipped (--skip-llm)
- ctis·2025-523204-68-00·Authorised, recruiting·A Phase 2, randomized, multicenter, open-label neoadjuvant study evaluating zanidatamab in combination with chemotherapy in participants with HER2-positive breast cancer
skipped — LLM skipped (--skip-llm)
- ctis·2025-523091-23-00·Authorised, ongoing·ZANUBRUTINIB, A SECOND GENERATION BTK INHIBITOR, IN ANTI-MAG ANTIBODY NEUROPATHY: A PHASE II ITALIAN MULTICENTER CLINICAL TRIAL (MAZINGA)
skipped — LLM skipped (--skip-llm)
- ctis·2024-516898-72-00·Authorised, ongoing·Neoadjuvant gemcitabine and cisplatin in combination with perioperative pembrolizumab versus upfront surgery for patients with primary resectable and borderline resectable perihilar and distal cholangiocarcinoma (NEODISCO): A Multicentre Phase 2B/3 Randomised Controlled Trial
skipped — LLM skipped (--skip-llm)
- ctis·2025-521268-37-00·Authorised, recruiting·A randomized, double-blind, placebo-controlled study to evaluate the effect of dupilumab on airway inflammation through assessments of mucus plugging and other lung imaging parameters in patients with chronic obstructive pulmonary disease (AEOLUS)
skipped — LLM skipped (--skip-llm)
- ctis·2024-519706-13-00·Authorised, ongoing·Single vs. dual antiplatelet therapy in elderly or HBR patients undergoing percutaneous intervention with drug-coated balloons (PICCOLETO IV-EPIC 38)
skipped — LLM skipped (--skip-llm)
- ctis·2024-520372-10-00·Authorised, ongoing·Resistance training and rapamycin to enhance bone formation in postmenopausal women (STRONGBONE)
skipped — LLM skipped (--skip-llm)
- ctis·2024-513435-24-01·Cancelled·J4F-MC-CYAB: A Phase 2, Randomized, Double-Blind, Placebo Controlled, Dose-Finding Study Evaluating LY3848575 in Chronic Neuropathic Pain Associated With Distal Sensory Polyneuropathy
skipped — LLM skipped (--skip-llm)
- ctis·2025-521301-40-00·Authorised·Prospective, randomized, multicentre study to compare the efficacy at 52 weeks (1 year) of biosimilar teriparatide and alendronate in the prevention of new morphometric vertebral fractures and/or worsening of previous vertebral fractures in women with a clinical vertebral fracture or recent hip fracture (imminent risk of fracture) caused by bone fragility.
skipped — LLM skipped (--skip-llm)
- ctis·2024-518764-13-00·Cancelled·A Phase I, randomized, controlled, Latin-square, open-label study, to evaluate the effect of ADV7103 on gastric pH under fed and fasting conditions in adult healthy participants.
skipped — LLM skipped (--skip-llm)
- ctis·2024-520291-10-01·Authorised·Prospective Randomised Nordic Frostbite Treatment Study comparing tPA and iloprost therapy
skipped — LLM skipped (--skip-llm)
- ctis·2023-509675-16-01·Authorised·Reduced anticoagulation targets in extracorporeal life support
skipped — LLM skipped (--skip-llm)
- ctis·2024-520043-17-00·Authorised·The impact of Thromboprophylaxis on Progression Free Survival of Patients with Advanced Pancreatic Cancer. The Pancreatic Cancer & Tinzaparin Prospective (imPaCT-PRO) study
skipped — LLM skipped (--skip-llm)
- ctis·2024-519979-26-00·Authorised·Evaluation of patients with total coronary occlusions with multimodality image.
skipped — LLM skipped (--skip-llm)
- ctis·2024-515610-41-00·Authorised, recruiting·A Phase 2, Randomized, Double-Blind, Placebo-Controlled, Parallel-Group, Dose-Finding Study to Evaluate the Safety, Tolerability and Efficacy of AGA2118 in Postmenopausal Women with Low Bone Mineral Density
skipped — LLM skipped (--skip-llm)
- ctis·2024-520073-13-00·Authorised, ongoing·Bisphosphonate vs. Placebo Prior to Parathyroidectomy in Primary Hyperparathyroidisme: A Randomized, blinded Placebo-controlled Trial
skipped — LLM skipped (--skip-llm)
- ctis·2024-517340-61-00·Cancelled·Adjuvant chemotherapy with gemcitabine and cisplatin compared to standard of care after curative intent resection of cholangiocarcinoma and muscle invasive gallbladder carcinoma (ACTICCA-1 trial)
skipped — LLM skipped (--skip-llm)
- ctis·2024-517796-21-00·Authorised·The Jason Study:
Sulodexide (VESSEL®) for the prevention of recurrent venous thromboembolism in elderly patients after a first episode of venous thrombembolism
skipped — LLM skipped (--skip-llm)
- ctis·2024-515059-39-00·Authorised, ongoing·Evaluation of the Efficacy of Valsartan in Slowing Down Aortic Root Dilatation in Children and Young Adults with Marfan-type Heritable Thoracic Aortic Diseases – Valsar-TAD, a randomised, double-blind, placebo-controlled multicentre trial
skipped — LLM skipped (--skip-llm)
- ctis·2024-516667-91-00·Cancelled·The effect of oral buspirone hydrochloride on esophageal motility, bolus transit and symptoms of dysphagia, in patients with poor esophageal motility: A randomized, double-blind, placebo controlled, cross-over trial with high resolution esophageal manometry and impedance.
skipped — LLM skipped (--skip-llm)
Where to find support
Condition-specific patient organisations, when Orphanet lists them, are on the disease’s Orphanet page. We also link umbrella groups that support undiagnosed and ultra-rare families.
Orphanet entry for Schaaf-Yang syndrome — check Associations / patient organisations on that page.
India — NPRD
Last verified 2026-07-26Likely covered — the policy lists Prader-Willi syndrome as a category (Group 2), and this condition is a form of it. Confirm eligibility with a Centre of Excellence.
Group 2 — long-term / lifelong lower-cost interventions
NPRD envisages State Government support for dietary formulae, hormones, and other lower-cost interventions. This is a different route from the central CoE ₹50 lakh pathway; ask your state health department and a CoE which channel applies.
Central CoE funding may also apply depending on current rules — confirm with a notified Centre of Excellence. Do not assume the ₹50 lakh ceiling covers Group 2 by default. Verify
Centres of Excellence (15)
- All India Institute of Medical Sciences (AIIMS) — New Delhi, Delhi
- Maulana Azad Medical College — New Delhi, Delhi
- Sanjay Gandhi Post Graduate Institute of Medical Sciences — Lucknow, Uttar Pradesh
- Post Graduate Institute of Medical Education and Research (PGIMER) — Chandigarh, Chandigarh
- Centre for DNA Fingerprinting & Diagnostics with Nizam’s Institute of Medical Sciences — Hyderabad, Telangana
- King Edward Memorial Hospital — Mumbai, Maharashtra
- Institute of Post-Graduate Medical Education and Research (IPGMER) — Kolkata, West Bengal
- Centre for Human Genetics with Indira Gandhi Hospital — Bengaluru, Karnataka
- Institute of Child Health and Hospital for Children (ICH & HC) — Chennai, Tamil Nadu
- All India Institute of Medical Sciences (AIIMS) — Jodhpur, Rajasthan
- Sree Avittam Thirunal Hospital (SAT), Government Medical College — Thiruvananthapuram, Kerala
- All India Institute of Medical Sciences (AIIMS) — Bhopal, Madhya Pradesh
- Regional Institute of Medical Sciences (RIMS) — Imphal, Manipur
- All India Institute of Medical Sciences (AIIMS) — Patna, Bihar
- Assam Medical College & Hospital — Dibrugarh, Assam
Voluntary contributions / crowdfunding (separate from CoE funding): https://rarediseases.mohfw.gov.in/
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.
("Schaaf-Yang syndrome" OR "SHFYNG" OR "arthrogryposis, distal, with hypopituitarism, intellectual disability, and facial anomalies" OR "arthrogryposis, distal, with hypopituitarism, mental retardation, and facial anomalies") OR (MESH:"Arthrogryposis, distal, with hypopituitarism, mental retardation, and facial anomalies") OR ("MAGEL2" OR "MAGEL2 syndrome" OR "MAGEL2-related")MeSH descriptor terms unioned into the query: Arthrogryposis, distal, with hypopituitarism, mental retardation, and facial anomalies
ClinicalTrials.gov query (quoted phrases + MeSH via query.cond, plus recall-expansion terms when used):
"Schaaf-Yang syndrome" OR "SHFYNG" OR "arthrogryposis, distal, with hypopituitarism, intellectual disability, and facial anomalies" OR "arthrogryposis, distal, with hypopituitarism, mental retardation, and facial anomalies"
Study-type breakdown: 0 interventional · 0 observational · 0 expanded access. Only interventional studies enter the trial headline.
Query health: suspect — strategies attempted: phrase, mesh; with hits: phrase
Run this search on ClinicalTrials.gov
Synonyms dropped by stoplist: SYS
Confidence reasoning
- Preferred label is multi-word and distinctive
- 1 synonym(s) dropped by stoplist (may under-count)
- No label/synonym collisions with other diseases in this corpus
- Publication count (1219) is implausibly high for prevalence class "<1 / 1 000 000" — treat as possible over-matching, not a measure of research intensity
Ingested 2026-07-27T15:17:20.984Z