ORPHA:363992
Ichthyosis-short stature-brachydactyly-microspherophakia syndrome
Also known as: 15q26.3 microdeletion syndrome
Clinical definition (Orphanet)
A rare, syndromic ichthyosis characterized by a collodion membrane at birth, generalized ichthyosis, microspherophakia, myopia, ectopia lentis, short stature with brachydactyly and joint stiffness, and occasionally mitral valve .
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.
Is anyone studying this?
60
60 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=183) is 38.
60 papers since the earliest indexed year in this search — median last-10-year count for a rare disease in this dataset is 38 (publications denominator n=183).
36 in the last 10 years · medium confidence · 48.6th percentile (publications denominator)
Is a treatment being tested?
0
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 26 July 2026
No matched interventional trials. This is true for 59.2% of diseases in the trials denominator (151 of 255). Here are the researchers publishing on it.
medium confidence · 29.6th percentile (trials denominator)
Do we know what causes it?
Yes — we know a specific gene responsible (ADAMTS17).
GenCC classification: Definitive.
Who's working on it?
414
Distinct author names in 60 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.
- 01Apte SS7 papers · 2021
Department of Biomedical Engineering, Cleveland Clinic Lerner Research Institute, Cleveland, OH, USA.
Papers in Europe PMC - 02Hubmacher D7 papers · 2021
Department of Biomedical Engineering, Cleveland Clinic Lerner Research Institute, Cleveland, OH, USA.
Papers in Europe PMC - 03Haltiwanger RS3 papers · 2025
Department of Biochemistry and Cell Biology, Stony Brook University, Stony Brook, NY 11794, USA.
Papers in Europe PMC - 04Reinhardt DP3 papers · 2021
Faculty of Medicine and Faculty of Dentistry, McGill University, Montreal, Quebec, Canada.
Papers in Europe PMC - 05Balic Z2 papers · 2021
Icahn School of Medicine at Mount Sinai, New York, NY, USA.
Papers in Europe PMC - 06Chandra A2 papers · 2014
1] Vitreoretinal Department, Royal Victorian Eye and Ear Hospital, Melbourne, Victoria, Australia [2] Vitreoretinal Department, Moorfields Eye Hospital, London, UK.
Papers in Europe PMC - 07Khalil RA2 papers · 2022
Vascular Surgery Research Laboratories, Division of Vascular and Endovascular Surgery, Brigham and Women's Hospital, Harvard Medical School, Boston, MA, United States. Electronic address: raouf_khalil@hms.harvard.edu.
Papers in Europe PMC - 08Liu Y2 papers · 2024
Department of Information Section, Hebei Eye Hospital, Hebei Key Laboratory of Ophthalmology, Hebei Provincial Clinical Research Center for Eye Diseases, 054001, Xingtai, Hebei, China.
Papers in Europe PMC - 09Oichi T2 papers · 2023
Department of Orthopedics, The University of Tokyo Hospital, Hongo 7-3-1, Bunkyo-Ku, Tokyo, 113-8655, Japan.
Papers in Europe PMC - 10Oshima Y2 papers · 2023
Department of Orthopedics, The University of Tokyo Hospital, Hongo 7-3-1, Bunkyo-Ku, Tokyo, 113-8655, Japan.
Papers in Europe PMC
Recruiting interventional trials
Trials testing a treatment 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 above — 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 below but are not added to the query string.
"Ichthyosis-short stature-brachydactyly-microspherophakia syndrome" OR "15q26.3 microdeletion syndrome" OR "Weill-Marchesani syndrome 4" OR "Weill-Marchesani-like syndrome"
MeSH descriptor terms unioned into the query: Weill-Marchesani-Like Syndrome
ClinicalTrials.gov query (quoted phrases + MeSH via query.cond, plus recall-expansion terms when used):
"Ichthyosis-short stature-brachydactyly-microspherophakia syndrome" OR "15q26.3 microdeletion syndrome" OR "Weill-Marchesani syndrome 4" OR "Weill-Marchesani-like syndrome" OR "ADAMTS17"
Study-type breakdown: 0 interventional · 0 observational · 0 expanded access. Only interventional studies enter the trial headline.
Cross-references (from Mondo): MESH:C567710 OMIM:613195 UMLS:C2750787
Query health: ok — strategies attempted: phrase, mesh, recall-expansion; with hits: phrase, mesh
Run this search on ClinicalTrials.gov
Synonyms dropped by stoplist: WMS4
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