ORPHA:527450
Severe myopia-generalized joint laxity-short stature syndrome
Publications
184
60.4th percentile
Trials
0
Interventional, condition-specific
Researchers
19
Distinct authors in sample
Gene link
GZF1
Strong
Readiness
3/6
Stages with a signal
Clinical definition (Orphanet)
A rare developmental defect with connective tissue involvement characterized by joint hyperextensibility and multiple dislocations of large joints, severe myopia, and short stature. Other common features include retinal detachment, iris and chorioretinal coloboma, kyphoscoliosis and other spine deformities, pectus carinatum, talipes equinovarus, and hearing loss.
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:0060556
- OMIM:617662
- UMLS:C4540020
Additional Mondo synonyms (1)
joint laxity, short stature, and myopia
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 — GZF1
- LiteraturePresent
184 matched papers (127 in last 10 years) Source
- Phenotype characterisedPresent
16 HPO annotations (e.g. Kyphoscoliosis; Hearing impairment; High myopia) 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 (GZF1).
GenCC classification: Strong.
Phenotypes (Monarch / HPO)
16
Associated phenotypes · MONDO:0060556
- Kyphoscoliosis
- Hearing impairment
- High myopia
- Multiple joint dislocation
- Umbilical hernia
Showing 5 of 16 — 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?
184
184 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=3967) is 59.
184 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).
127 in the last 10 years · high confidence · 60.4th percentile (publications denominator)
Phrase hits: 4 · MeSH hits: 0
Who's working on it?
19
Distinct author names in 4 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.
- 01Apam-Garduño D1 paper · 2024
Escuela Superior de Medicina, Instituto Politécnico Nacional, Mexico City, México.
Papers in Europe PMC - 02Barragán-Arévalo T1 paper · 2026
Genetics Department, Hospital Infantil de México "Federico Gómez", Mexico City, Mexico.
Papers in Europe PMC - 03Chacón-Camacho OF1 paper · 2026
Department of Genetics, Institute of Ophthalmology "Conde de Valenciana", Mexico City, Mexico.
Papers in Europe PMC - 04Chen HY1 paper · 2021
Neurobiology-Neurodegeneration & Repair Laboratory, National Eye Institute, National Institutes of Health, MSC0610, 6 Center Drive, Bethesda, MD 20892 USA. Electronic address: holly.chen@nih.gov.
Papers in Europe PMC - 05Cortés-González V1 paper · 2024
Departamento de Genética, Asociación Para Evitar la Ceguera en México, Vicente García Torres No. 46 Barrio San Lucas, Coyoacán, C.P. 04030, Mexico City, México. vianney.cortes@apec.com.mx.
Papers in Europe PMC - 06Del Castillo-Ruiz V1 paper · 2026
Human Genetics Department, National Institute of Pediatrics, Mexico City, Mexico.
Papers in Europe PMC - 07Enríquez-Flores S1 paper · 2024
Laboratorio de Biomoléculas y Salud Infantil, Instituto Nacional de Pediatría, Mexico City, México.
Papers in Europe PMC - 08Fernández-Hernández L1 paper · 2024
Laboratorio de Biología Molecular, Subdirección de Investigación Médica, Instituto Nacional de Pediatría, Mexico City, Mexico.
Papers in Europe PMC - 09Khang R1 paper · 2024
Medical Genetics Division, 3Billion, Inc., Seoul, South Korea.
Papers in Europe PMC - 10Leal-Anaya P1 paper · 2026
Human Genetics Department, National Institute of Pediatrics, Mexico City, Mexico.
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.
high 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 12 · after dedupe 11 · already on CT.gov 0 · kept 0 · parent 0 · uncertain 11 · 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 (11)
- ctis·2025-523832-38-00·Authorised·Multicenter Interventional Study Somatrogon Impact on Outcomes in Naive Small for Gestational Age or Idiopathic Short Stature paediatric patients compared with daily growth hormone
skipped — LLM skipped (--skip-llm)
- ctis·2025-523509-13-00·Authorised, ongoing·Phase 2, Open-Label, Long-Term, Extension (OLE) Study of Infigratinib, an FGFR 1-3-Selective Tyrosine Kinase Inhibitor, in Children with Hypochondroplasia: ACCEL OLE
skipped — LLM skipped (--skip-llm)
- ctis·2025-523079-44-00·Authorised, ongoing·HighLiGHts - A Pivotal, Parallel-Arm, Phase 3, Open-Label, Active-controlled, Global, Multicenter, Randomized Basket Trial Investigating the Efficacy and Safety of Once-weekly Lonapegsomatropin Compared to Daily Somatropin in Prepubertal Children and Adolescents with Growth Failure or Short Stature due to Growth Hormone Sufficient Disorders – Turner Syndrome, SHOX Deficiency, Small for Gestational Age, and Idiopathic Short Stature
skipped — LLM skipped (--skip-llm)
- ctis·2024-516822-67-00·Authorised, ongoing·A Phase 2/3, Multicenter, Open-Label Phase Followed by a Double-Blind, Randomized, Placebo-Controlled Study to Evaluate the Efficacy and Safety of Infigratinib in Children with Hypochondroplasia: ACCEL 2/3
skipped — LLM skipped (--skip-llm)
- ctis·2024-520137-74-00·Authorised, ongoing·A Phase 2, Randomized, Controlled, Multicenter Study of Vosoritide in Children With Idiopathic Short Stature
skipped — LLM skipped (--skip-llm)
- ctis·2024-515861-33-00·Authorised, recruiting·A Phase 2, Randomized, Multicenter, Study of Vosoritide in Children with Noonan Syndrome with Inadequate Growth During or After Human Growth Hormone Treatment
skipped — LLM skipped (--skip-llm)
- ctis·2023-506927-27-00·Expired·A study comparing the effect and safety of once weekly dosing of somapacitan with daily Norditropin® as well as evaluating long-term safety of somapacitan in a basket study design in children with short stature either born small for gestational age or with Turner syndrome, Noonan syndrome, or idiopathic short stature
skipped — LLM skipped (--skip-llm)
- ctis·2023-506830-66-00·Expired·A dose-finding trial evaluating the effect and safety of once-weekly treatment of somapacitan compared to daily Norditropin® in children with short stature born small for gestational age with no catch-up growth by 2 years of age or older
skipped — LLM skipped (--skip-llm)
- ctis·2023-508864-31-00·Expired·A Phase 3, Open-Label Long-Term Extension Study to Evaluate the Safety and Efficacy of BMN 111 in Children with Achondroplasia
skipped — LLM skipped (--skip-llm)
- ctis·2022-500306-17-00·Expired·A multi-center, randomized, active controlled clinical trial to evaluate the efficacy and safety of OTL-203 in subjects with mucopolysaccharidosis type I, Hurler syndrome (MPS-IH) compared to standard of care with allogeneic hematopoietic stem cell transplantation (allo-HSCT)
skipped — LLM skipped (--skip-llm)
- ctis·2022-501055-87-01·Expired·A study evaluating the safety and efficacy of once-weekly dosing of somapacitan in a basket study design in paediatric participants with short stature either born small of gestational age or with Turner syndrome, Noonan syndrome or idiopathic short stature
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 Severe myopia-generalized joint laxity-short stature 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.
("Severe myopia-generalized joint laxity-short stature syndrome" OR "joint laxity, short stature, and myopia") OR ("GZF1" OR "GZF1 syndrome" OR "GZF1-related")ClinicalTrials.gov query (quoted phrases + MeSH via query.cond, plus recall-expansion terms when used):
"Severe myopia-generalized joint laxity-short stature syndrome" OR "joint laxity, short stature, and myopia"
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
Ingested 2026-07-27T18:04:24.396Z