ORPHA:2833
Stiff skin syndrome
Publications
10,492
Trials
0
Interventional, condition-specific
Researchers
1,045
Distinct authors in sample
Gene link
FBN1
Strong
Readiness
3/6
Stages with a signal
Clinical definition (Orphanet)
Stiff skin syndrome is a rare, slowly cutaneous disease characterized by rock-hard skin bound firmly to the underlying tissues (mainly on the shoulders, lower back, buttocks and thighs), mild hypertrichosis and hyperpigmentation overlying the affected areas of skin, as well as limited joint mobility (mainly of large joints) with flexion contractures. Cutaneous nodules, affecting mostly distal interphalangeal joints, as well as extracutaneous manifestations, including diffuse entrapment , scoliosis, a tiptoe gait and a narrow thorax, may be associated. Restrictive pulmonary changes, muscle weakness, short stature and growth delay have also been reported. No vascular hyperreactivity, immunologic abnormalities nor visceral, muscular or bone involvement has been described.
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:0008492
- MeSH:C566112
- OMIM:184900
- UMLS:C1861456
- NCIT:C118636
Additional Mondo synonyms (1)
stiff skin syndrome
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
Strong — FBN1
- LiteraturePresent
10,492 matched papers (7,192 in last 10 years) Source
- Phenotype characterisedPresent
42 HPO annotations (e.g. Limitation of joint mobility; Lower-limb joint contracture; Abnormality of the respiratory system) 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 (FBN1).
GenCC classification: Strong.
Phenotypes (Monarch / HPO)
42
Associated phenotypes · MONDO:0008492
- Limitation of joint mobility
- Lower-limb joint contracture
- Abnormality of the respiratory system
- Abnormal thorax morphology
- Abnormality of the skin
Showing 5 of 42 — 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?
10,492
10,492 papers — among the better-studied rare conditions, though still a fraction of common-disease literature (breast cancer: over 700,000). Median papers in the last 10 years for a rare disease in this dataset (publications denominator n=3967) is 59.
10,492 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).
7,192 in the last 10 years · low confidence
Phrase hits: 245 · MeSH hits: 0
Who's working on it?
1,045
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.
- 01Handford PA5 papers · 2021
Department of Biochemistry, University of Oxford, Oxford, United Kingdom.
Papers in Europe PMC - 02Jablonska S5 papers · 2004
Department of Dermatology, Warsaw School of Medicine, Poland.
Papers in Europe PMC - 03Jensen SA5 papers · 2021
Department of Biochemistry, University of Oxford, Oxford, United Kingdom.
Papers in Europe PMC - 04Sakai LY5 papers · 2020
Department of Molecular and Medical Genetics, Oregon Health & Science University, Portland, Oregon, USA; Department Biochemistry and Molecular Biology, Oregon Health & Science University, Portland, Oregon, USA.
Papers in Europe PMC - 05Baldock C4 papers · 2025
Wellcome Centre for Cell-Matrix Research, Division of Cell-Matrix Biology and Regenerative Medicine, School of Biological Sciences, Faculty of Biology, Medicine and Health, University of Manchester, Manchester Academic Health Science Centre, Manchester M13 9PT, UK. Electronic address: clair.baldock@manchester.ac.uk.
Papers in Europe PMC - 06Loeys BL4 papers · 2022
Institute of Genetic Medicine and Howard Hughes Medical Institute, Johns Hopkins University School of Medicine, Broadway Research Building, Room 539, 733 North Broadway, Baltimore, MD 21205, USA.
Papers in Europe PMC - 07Brunetti-Pierri N3 papers · 2021
1] Telethon Institute of Genetics and Medicine, Naples, Italy [2] Department of Translational Medicine, Federico II University of Naples, Naples, Italy.
Papers in Europe PMC - 08Dietz HC3 papers · 2013Papers in Europe PMC
- 09Gerber EE3 papers · 2013
McKusick-Nathans Institute of Genetic Medicine, Johns Hopkins University School of Medicine, Baltimore, Maryland 21205, USA.
Papers in Europe PMC - 10Huang J3 papers · 2023
Department of Physiology, The School of Medicine of Jinan University, Guangzhou, 510000, China.
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 5 · after dedupe 5 · already on CT.gov 0 · kept 0 · parent 0 · uncertain 5 · dropped 0 · fetched 2026-07-29
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 (5)
- isrctn·ISRCTN17213693·No longer recruiting·Human augmentation using potassium sensors and the UltraLYNX™ power and communication platform
skipped — LLM skipped (--skip-llm)
- isrctn·ISRCTN16919215·No longer recruiting·Hydrotherapy in mucopolysaccharidosis II
skipped — LLM skipped (--skip-llm)
- isrctn·ISRCTN12615820·No longer recruiting·A mass balance study of a [14C]S-309309 oral capsule in healthy adult male participants
skipped — LLM skipped (--skip-llm)
- isrctn·ISRCTN15878562·No longer recruiting·Determining the extent of liver scarring in patients with psoriasis using a non-invasive scan and assessing the relationship between liver scarring and other potential risk factors for liver damage including methotrexate
skipped — LLM skipped (--skip-llm)
- isrctn·ISRCTN76896018·No longer recruiting·Effect of acupuncture treatment on stiff neck
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 Stiff skin syndrome — check Associations / patient organisations on that page.
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.
("Stiff skin syndrome") OR ("FBN1" OR "FBN1 syndrome" OR "FBN1-related")ClinicalTrials.gov query (quoted phrases + MeSH via query.cond, plus recall-expansion terms when used):
"Stiff skin syndrome"
Study-type breakdown: 0 interventional · 0 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 (10492) is implausibly high for prevalence class "<1 / 1 000 000" — treat as possible over-matching, not a measure of research intensity
Ingested 2026-07-26T21:23:02.484Z