ORPHA:300179
Kyphoscoliotic Ehlers-Danlos syndrome due to FKBP22 deficiency
Also known as: Ehlers-Danlos syndrome with kyphoscoliosis, myopathy, and deafness · Ehlers-Danlos syndrome with kyphoscoliosis, myopathy, and hearing loss · FKBP14-related EDS · FKBP22-deficient EDS · Kyphoscoliotic EDS due to FKBP22 deficiency · kEDS-FKBP14
Publications
508
Trials
0
Interventional, condition-specific
Researchers
271
Distinct authors in sample
Gene link
FKBP14
Definitive
Readiness
4/6
Stages with a signal
Clinical definition (Orphanet)
A rare subtype of kyphoscoliotic Ehlers-Danlos syndrome characterized by muscle , or early-onset kyphoscoliosis ( or non-), and generalized joint hypermobility with dislocations/subluxations (in particular of the shoulders, hips, and knees). Additional common features are skin hyperextensibility, easy bruising of the skin, rupture/aneurysm of a medium-sized artery, osteopenia/osteoporosis, blue sclerae, umbilical or inguinal hernia, chest deformity, marfanoid habitus, talipes equinovarus, and refractive errors. Subtype-specific manifestations include hearing impairment (sensorineural, conductive, or mixed), follicular hyperkeratosis, muscle atrophy, and bladder diverticula. Molecular testing is obligatory to confirm the diagnosis.
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:0013800
- OMIM:614557
- UMLS:C3281160
Additional Mondo synonyms (8)
EDS with progressive kyphoscoliosis, myopathy, and deafness · EDS with progressive kyphoscoliosis, myopathy, and hearing loss · EDS, kyphoscoliotic and hearing loss type · Ehlers-Danlos syndrome with progressive kyphoscoliosis, myopathy, and deafness · Ehlers-Danlos syndrome with progressive kyphoscoliosis, myopathy, and hearing loss · Ehlers-Danlos syndrome, kyphoscoliotic and deafness type · Ehlers-Danlos syndrome, kyphoscoliotic and hearing loss type · Ehlers-Danlos syndrome, kyphoscoliotic type, 2
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.”
4/6 stages with a signal
No specific-condition interventional trial, but broader-category trials exist — discuss eligibility with a clinician.
- Gene identifiedPresent
Definitive — FKBP14
- LiteraturePresent
508 matched papers (390 in last 10 years) Source
- Phenotype characterisedPresent
67 HPO annotations (e.g. Hypotonia; Redundant umbilical skin; Mixed hearing impairment) 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 trialPartial
None under the specific name; 44 for broader category Ehlers-Danlos syndrome
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 (FKBP14).
GenCC classification: Definitive.
Phenotypes (Monarch / HPO)
67
Associated phenotypes · MONDO:0013800
- Hypotonia
- Redundant umbilical skin
- Mixed hearing impairment
- Atlantoaxial instability
- Talipes equinovarus
Showing 5 of 67 — 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?
508
508 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.
508 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).
390 in the last 10 years · low confidence
Phrase hits: 37 · MeSH hits: 0
Who's working on it?
271
Distinct author names in 37 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.
- 01Fauth C5 papers · 2018
Division of Human Genetics, Medical University of Innsbruck, Innsbruck, Austria.
Papers in Europe PMC - 02Rohrbach M5 papers · 2019
Connective Tissue Unit, Division of Metabolism and Children's Research Centre, University Children's Hospital, Zurich, Switzerland.
Papers in Europe PMC - 03Giunta C4 papers · 2019
Connective Tissue Unit, Division of Metabolism and Children's Research Centre, University Children's Hospital, Zurich, Switzerland.
Papers in Europe PMC - 04Baumann M3 papers · 2018
Department of Pediatrics I, Pediatric Neurology, Medical University of Innsbruck, Innsbruck, Austria.
Papers in Europe PMC - 05Malfait F3 papers · 2022
Center for Medical Genetics, Department of Biomolecular Medicine, Ghent University, Ghent, Belgium.
Papers in Europe PMC - 06Zschocke J3 papers · 2018
Division of Human Genetics, Medical University of Innsbruck, Innsbruck, Austria.
Papers in Europe PMC - 07Belova VА2 papers · 2021
Center for Precision Genome Editing and Genetic Technologies for Biomedicine, Pirogov Russian National Research Medical University, Moscow, 117997, Russian Federation.
Papers in Europe PMC - 08Bönnemann CG2 papers · 2018
Neuromuscular and Neurogenetic Disorders of Childhood Section, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, Maryland, USA.
Papers in Europe PMC - 09Colombi M2 papers · 2018
Department of Molecular and Translational Medicine, Division of Biology and Genetics, University of Brescia, Brescia, Italy.
Papers in Europe PMC - 10Dantsev IS2 papers · 2021
Veltischev Research and Clinical Institute for Pediatrics, Pirogov Russian National Research Medical University, Moscow, 125412, Russian Federation.
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). 44 trials are registered for Ehlers-Danlos syndrome, the broader category — shown separately because they may or may not enrol this specific subtype.
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.
44 interventional trials matched Ehlers-Danlos syndrome, the broader category — listed below. Those studies are not counted in the condition-specific total.
Broader category: Ehlers-Danlos syndrome
44
Interventional trials for the parent category, exclusive of NCT IDs already counted above. Eligibility for this subtype is not guaranteed.
Worth raising with a clinician. How we count trials.
Recruiting under the broader category
- NCT07697573·NOT YET RECRUITING·An Exercise and Lifestyle Programme for Adults With Vascular Ehlers-Danlos Syndrome: A Feasibility Study
Conditions: Vascular Ehlers Danlos Syndrome·Matched via name phrase
- NCT07688096·NOT YET RECRUITING·Regenerative Medicine for Joint Hypermobility and Instability
Conditions: Ehlers-Danlos Syndrome Hypermobility Type (hEDS) · Ehlers-Danlos Syndrome (EDS) · Joint Hypermobility · Joint Instability·Matched via name phrase
- NCT05212129·RECRUITING·Auricular Vagal Nerve Stimulation for Hypermobile Ehlers-Danlos Syndrome
Conditions: Functional Gastrointestinal Disorders · Hypermobile Ehlers-Danlos Syndrome · Postural Orthostatic Tachycardia Syndrome · Autonomic Nervous System Disease·Matched via name phrase
- NCT05432466·RECRUITING·Clinical Trial to Compare the Efficacy of Celiprolol to Placebo in Patients With Vascular Ehlers-Danlos Syndrome
Conditions: Vascular Ehlers-Danlos Syndrome·Matched via name phrase
- NCT07743229·NOT YET RECRUITING·COG+OT Telerehabilitation for Adults With Subjective Cognitive Complaints
Conditions: Subjective Cognitive Complaints · Ehlers-Danlos Syndrome · Cognitive Dysfunction·Matched via name phrase
- NCT05994664·RECRUITING·Heart Coherence Training on Vascular Ehlers-Danlos Syndrome Patients
Conditions: Vascular Ehlers-Danlos Syndrome·Matched via name phrase
- NCT07626957·NOT YET RECRUITING·Hamstring Strengthening in Hypermobile Conditions
Conditions: Hypermobile EDS (hEDS) · Hypermobile Ehlers-Danlos Syndrome · Hypermobile Spectrum Disorder · Hypermobility Type Ehlers-Danlos Syndrome·Matched via name phrase
- NCT07083713·ENROLLING BY INVITATION·Group Coaching Study for Life Goals
Conditions: Students · Spinal Cord Injury · Ehlers Danlos Syndrome · Care Givers·Matched via name phrase
- NCT02050113·RECRUITING·Complex Aortic Aneurysm Repair Using Physician Modified Endografts and Custom Made Devices
Conditions: Complex Aortic Aneurysms · Thoracoabdominal Aneurysms · Pararenal Aneurysms · Juxtarenal Aneurysms·Matched via name phrase
- NCT05757960·ENROLLING BY INVITATION·TMD-specific Physiotherapy in hEDS Patients Individuals With Hypermobile Ehlers-Danlos Syndrome
Conditions: Hypermobile Ehlers-Danlos Syndrome·Matched via name phrase
- NCT07464093·RECRUITING·STABLE Pilates for Hypermobility
Conditions: Ehlers-Danlos Syndrome (EDS) · Hypermobile EDS (hEDS) · Hypermobile Spectrum Disorder·Matched via name phrase
- NCT05279937·NOT YET RECRUITING·The Ultrasound-Guided Dextrose Prolotherapy in Ehlers-Danlos Syndrome Patients
Conditions: Ehlers-Danlos Syndrome · Low Back Pain · Sacroiliac Instability·Matched via name phrase
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 35 · after dedupe 35 · already on CT.gov 0 · kept 0 · parent 0 · uncertain 35 · 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 (35)
- ctis·2025-521145-24-01·Authorised·A Phase 1/2, Open-Label Study to Evaluate the Safety and Efficacy of Autologous CD19-specific Chimeric Antigen Receptor T cells (CABA-201) in Subjects with Active Idiopathic Inflammatory Myopathy or Active Juvenile Idiopathic Inflammatory Myopathy
skipped — LLM skipped (--skip-llm)
- ctis·2025-524100-29-00·Authorised·An Open-Label, Phase 1b, Multiple Ascending Dose Study of OM336 in Participants with Active Sjogren’s Disease or Idiopathic Inflammatory Myopathy
skipped — LLM skipped (--skip-llm)
- ctis·2025-522343-18-00·Authorised, recruiting·A Phase 2, Randomized, Double-Blind, Placebo-Controlled Trial to Assess the Efficacy and Safety of surlorian (ARM210, S48168) in Adults with Autosomal Dominant RYR1-Related Myopathy
skipped — LLM skipped (--skip-llm)
- ctis·2025-522834-30-01·Authorised·Fibroblast markers to tackle fibrosis in immune-mediated inflammatory diseases
skipped — LLM skipped (--skip-llm)
- ctis·2025-523213-29-00·Authorised·A Phase 1/2, Multicenter, Open-label, Dose Escalation and Expansion Clinical Study to Evaluate the Safety, Tolerability and Preliminary Efficacy of ASP2957 in Male Participants with Invasive Ventilator-dependent X-linked Myotubular Myopathy
skipped — LLM skipped (--skip-llm)
- ctis·2025-522361-30-00·Authorised, recruiting·A Phase III, randomised, double-blind, placebo-controlled, parallel-group, pivotal trial to assess the efficacy and safety of sonlicromanol in adult subjects with a genetically confirmed mitochondrial DNA tRNALeu(UUR) m.3243A>G variant.
skipped — LLM skipped (--skip-llm)
- ctis·2025-522857-20-00·Authorised, ongoing·An open label, phase I/II study investigating the safety and efficacy of the bispecific T-cell engaging antibody cizutamig (BCMAxCD3) in patients with immune-mediated inflammatory diseases – the SPLENDID Trial
skipped — LLM skipped (--skip-llm)
- ctis·2025-521530-28-00·Authorised, ongoing·A phase I/II study of CAR-T cells in AutoiMmune disease resistant to B cell Abrogation - CARAMBA
skipped — LLM skipped (--skip-llm)
- ctis·2025-520461-41-00·Authorised, ongoing·An open-label Phase 2a study to evaluate the safety and efficacy of AlloNK®, an allogeneic cord blood-derived NK cell therapy, in combination with rituximab in relapsing forms of B-cell dependent rheumatologic diseases
skipped — LLM skipped (--skip-llm)
- ctis·2024-520222-11-00·Authorised, recruiting·A Long-Term Follow-up Study for Subjects Previously Treated with A Century Therapeutics Cellular Therapy Product
skipped — LLM skipped (--skip-llm)
- ctis·2024-517681-41-00·Authorised, ongoing·A Phase 1 Study of Healthy Donor CD19-targeted Allogeneic CAR T Cells in Participants with Severe, Refractory Autoimmune Diseases
skipped — LLM skipped (--skip-llm)
- ctis·2024-519015-34-00·Authorised, ongoing·A Study to Investigate Safety, Tolerability, Pharmacokinetics, and Pharmacodynamics of AZD5492 in Adult Participants with Systemic Lupus Erythematosus or Idiopathic Inflammatory Myopathies or Rheumatoid Arthritis.
skipped — LLM skipped (--skip-llm)
- ctis·2024-519532-16-00·Authorised, ongoing·A phase I/II study of CAR-expressing Allogenic iPSC derived NK cells for treatment of autoiMmune disease by B cELl depletion - CARAMEL
skipped — LLM skipped (--skip-llm)
- ctis·2024-518797-13-00·Cancelled·The CALiPSO-1 Study: A Study of CNTY-101, a CD19-targeted CAR iNK Cell Product, in
Participants with Refractory B cell-mediated Autoimmune Diseases
skipped — LLM skipped (--skip-llm)
- ctis·2024-518528-54-00·Authorised, ongoing·A Phase 1 Study of the Safety and Preliminary Efficacy of CTX112 in Adult Subjects With Refractory Autoimmune Disease.
skipped — LLM skipped (--skip-llm)
- ctis·2024-514289-38-00·Authorised, ongoing·A phase III, double blind, randomised, two arms, parallel study to compare the efficacy and safety of a 12-week administration of two fixed-dose combinations (Rosuvastatin 20 mg and Fenofibrate 160 mg versus Pravastatin 40 mg and Fenofibrate 160 mg (Pravafenix®)) in patients with mixed dyslipidaemia.
skipped — LLM skipped (--skip-llm)
- ctis·2024-511346-39-00·Authorised, recruiting·Phase IB open label, long-term, extension basket trial of RAY121 to inhibit classical complement pathway in immunological diseases (RAINBOW-LTE trial)
skipped — LLM skipped (--skip-llm)
- ctis·2024-514648-10-00·Authorised, ongoing·C0251010 - A PHASE 3, MULTI-CENTER, OPEN-LABEL EXTENSION STUDY TO INVESTIGATE THE LONG-TERM SAFETY, TOLERABILITY, AND EFFICACY OF DAZUKIBART IN PARTICIPANTS WITH IDIOPATHIC INFLAMMATORY MYOPATHIES (INCLUDING PARTICIPANTS WITH DERMATOMYOSITIS OR POLYMYOSITIS)
skipped — LLM skipped (--skip-llm)
- ctis·2024-515129-27-00·Authorised·Assess efficacy of intra-arterial autologous myogenic stam cell therapy for m.3243A>G mutation carriers
skipped — LLM skipped (--skip-llm)
- ctis·2024-516057-42-00·Cancelled·Intravenous immunoglobulin and prednisone vs. prednisone in newly diagnosed myositis: a double blind randomized clinical trial
skipped — LLM skipped (--skip-llm)
- ctis·2024-516819-24-00·Authorised, ongoing·CAR-T cells in systemic B cell mediated autoimmune disease - CASTLE
skipped — LLM skipped (--skip-llm)
- ctis·2024-512785-33-00·Cancelled·A Phase 2/3, Randomized, Double-Blinded, Placebo-Controlled, Parallel-Group, 2-Arm, Multicenter, Operationally Seamless Study to Evaluate the Efficacy, Safety, Tolerability, Pharmacodynamics, Pharmacokinetics, and Immunogenicity of Efgartigimod PH20 SC in Participants Aged 18 Years and Older With Active Idiopathic Inflammatory Myopathy
skipped — LLM skipped (--skip-llm)
- ctis·2024-510763-35-00·Authorised, ongoing·An Off-Label Single Arm Clinical Study to Evaluate the Efficacy and Safety of doxecitine and doxribtimine in Adult Subjects with Thymidine Kinase 2 (TK2) Deficiency
skipped — LLM skipped (--skip-llm)
- ctis·2023-507692-21-00·Authorised, ongoing·Phase Ib Open Label Basket Trial of RAY121 to Inhibit Classical Complement Pathway in Immunological Diseases (RAINBOW Trial)
skipped — LLM skipped (--skip-llm)
- ctis·2024-511263-28-00·Cancelled·Efficacy, safety, tolerability and quality of life of ongoing individually optimized lipid-lowering therapy with or without inclisiran (KJX839) – a randomized, placebo-controlled, double-blind multicenter phase IV study in participants with hypercholesterolemia
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 Kyphoscoliotic Ehlers-Danlos syndrome due to FKBP22 deficiency — 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.
("Kyphoscoliotic Ehlers-Danlos syndrome due to FKBP22 deficiency" OR "Ehlers-Danlos syndrome with kyphoscoliosis, myopathy, and deafness" OR "Ehlers-Danlos syndrome with kyphoscoliosis, myopathy, and hearing loss" OR "FKBP14-related EDS" OR "FKBP22-deficient EDS" OR "Kyphoscoliotic EDS due to FKBP22 deficiency" OR "kEDS-FKBP14" OR "EDS with progressive kyphoscoliosis, myopathy, and deafness" OR "EDS with progressive kyphoscoliosis, myopathy, and hearing loss" OR "EDS, kyphoscoliotic and hearing loss type" OR "Ehlers-Danlos syndrome with progressive kyphoscoliosis, myopathy, and deafness" OR "Ehlers-Danlos syndrome with progressive kyphoscoliosis, myopathy, and hearing loss" OR "Ehlers-Danlos syndrome, kyphoscoliotic and deafness type" OR "Ehlers-Danlos syndrome, kyphoscoliotic and hearing loss type" OR "Ehlers-Danlos syndrome, kyphoscoliotic type, 2") OR ("FKBP14" OR "FKBP14 syndrome" OR "FKBP14-related")ClinicalTrials.gov query (quoted phrases + MeSH via query.cond, plus recall-expansion terms when used):
"Kyphoscoliotic Ehlers-Danlos syndrome due to FKBP22 deficiency" OR "Ehlers-Danlos syndrome with kyphoscoliosis, myopathy, and deafness" OR "Ehlers-Danlos syndrome with kyphoscoliosis, myopathy, and hearing loss" OR "FKBP14-related EDS" OR "FKBP22-deficient EDS" OR "Kyphoscoliotic EDS due to FKBP22 deficiency" OR "kEDS-FKBP14" OR "EDS with progressive kyphoscoliosis, myopathy, and deafness" OR "EDS with progressive kyphoscoliosis, myopathy, and hearing loss" OR "EDS, kyphoscoliotic and hearing loss type" OR "Ehlers-Danlos syndrome with progressive kyphoscoliosis, myopathy, and deafness" OR "Ehlers-Danlos syndrome with progressive kyphoscoliosis, myopathy, and hearing loss" OR "Ehlers-Danlos syndrome, kyphoscoliotic and deafness type" OR "Ehlers-Danlos syndrome, kyphoscoliotic and hearing loss type" OR "Ehlers-Danlos syndrome, kyphoscoliotic type, 2"
Study-type breakdown: 0 interventional · 0 observational · 0 expanded access. Only interventional studies enter the trial headline.
Parent-category trials query:
"Ehlers-Danlos syndrome"
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 (508) is implausibly high for prevalence class "<1 / 1 000 000" — treat as possible over-matching, not a measure of research intensity
Ingested 2026-07-27T12:35:49.491Z