ORPHA:494439
Retinitis pigmentosa-hearing loss-premature aging-short stature-facial dysmorphism syndrome
Also known as: Retinitis pigmentosa-deafness-premature aging-short stature-facial dysmorphism syndrome
Publications
405
77.4th percentile
Trials
0
Interventional, condition-specific
Researchers
133
Distinct authors in sample
Gene link
EXOSC2
Strong
Readiness
3/6
Stages with a signal
Clinical definition (Orphanet)
A rare genetic multiple anomalies/ syndrome characterized by with mild , short stature, facial dysmorphism (such as sparse hair, high forehead, deep-set eyes, short and upslanting palpebral fissures, short nose, anteverted nares, wide nasal base with broad nasal tip and broad columella, long philtrum, thin upper lip, and low-set, posteriorly rotated ears), and variable onset of sensorineural hearing loss and retinitis pigmentosa. Additional features are other ocular anomalies, abnormalities of the fingers, hypothyroidism, and signs of premature aging. Brain imaging shows cerebellar atrophy and dysmyelination.
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:0044634
- OMIM:617763
- UMLS:C4540367
Additional Mondo synonyms (2)
retinitis pigmentosa-deafness-premature aging-short stature-facial dysmorphism syndrome · short stature, hearing loss, retinitis pigmentosa, and distinctive facies
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 — EXOSC2
- LiteraturePresent
405 matched papers (326 in last 10 years) Source
- Phenotype characterisedPresent
41 HPO annotations (e.g. Mild intellectual disability; Thin upper lip vermilion; Broad nasal tip) 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 (EXOSC2).
GenCC classification: Strong.
Phenotypes (Monarch / HPO)
41
Associated phenotypes · MONDO:0044634
- Mild intellectual disability
- Thin upper lip vermilion
- Broad nasal tip
- Rod-cone dystrophy
- Posteriorly rotated ears
Showing 5 of 41 — 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?
405
405 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.
405 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).
326 in the last 10 years · medium confidence · 77.4th percentile (publications denominator)
Phrase hits: 24 · MeSH hits: 0
Who's working on it?
133
Distinct author names in 24 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.
- 01Corbett AH4 papers · 2025
Department of Biology, Emory University, Atlanta, GA 30322, USA.
Papers in Europe PMC - 02Fasken MB4 papers · 2025
Department of Biology, Emory University, Atlanta, GA 30322, USA.
Papers in Europe PMC - 03van Hoof A3 papers · 2025
Department of Microbiology and Molecular Genetics, University of Texas Health Science Center at Houston, Houston, Texas 77030, USA.
Papers in Europe PMC - 04Ahammed KS2 papers · 2025
Department of Microbiology and Molecular Genetics and MD Anderson UTHealth Houston Graduate School of Biomedical Sciences, University of Texas Health Science Center at Houston, Houston, TX 77030, USA.
Papers in Europe PMC - 05Farchi D2 papers · 2023
Department of Biology, Emory University, Atlanta, GA 30322, USA.
Papers in Europe PMC - 06Sterrett MC2 papers · 2023
Department of Biology, Emory University, Atlanta, GA 30322, USA.
Papers in Europe PMC - 07Strassler SE2 papers · 2023
Biochemistry, Cell, and Developmental Biology Graduate Program, Emory University, Atlanta, GA 30322, USA.
Papers in Europe PMC - 08Sun J2 papers · 2025
Department of Nephrology, Linping Campus, Second Affiliated Hospital, Zhejiang University School of Medicine, Hangzhou, Zhejiang, China.
Papers in Europe PMC - 09Upadhyai P2 papers · 2026
Department of Medical Genetics, Kasturba Medical College, Manipal Academy of Higher Education, Manipal, India.
Papers in Europe PMC - 10Abdel-Ghafar SF1 paper · 2024
Medical Molecular Genetics Department, Human Genetics and Genome Research Institute, National Research Centre, Cairo, Egypt.
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.
medium 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 51 · after dedupe 49 · already on CT.gov 0 · kept 0 · parent 0 · uncertain 49 · 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 (49)
- 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·2026-525540-15-00·Authorised·Evaluation of the Non-Inferiority of Topical Chloramphenicol Versus Topical Ciprofloxacin in the Resolution of Otorrhea in Adults With Chronic Suppurative Otitis Media (CSOM) – Protocol OMCOS
skipped — LLM skipped (--skip-llm)
- ctis·2023-503573-38-00·Authorised·Safety of stem cells in treatmemt of retinal diseases.
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·2024-513710-35-00·Authorised·SERORL Effect of aspirin and folic acid for sudden sensorineural hearing loss
skipped — LLM skipped (--skip-llm)
- ctis·2024-517133-40-00·Authorised·Comparison of neurocognitive outcome in two standard regimen for treatment of low-risk medulloblastoma (COGNITO-MB)
skipped — LLM skipped (--skip-llm)
- ctis·2024-515199-10-01·Expired·A Double-masked, Randomized, Sham-Controlled Study to Evaluate the Efficacy, Safety and Tolerability of Ultevursen in Subjects with Retinitis Pigmentosa (RP) due to Mutations in Exon 13 of the USH2A Gene
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·2024-516110-38-00·Authorised, ongoing·PHITT: Paediatric Hepatic International Tumour Trial
skipped — LLM skipped (--skip-llm)
- ctis·2024-518269-92-00·Authorised·Effects and health economic aspects of enzyme therapy in children and adults with Pompe disease; Long-term follow-up of patients receiving commercially available Myozyme
skipped — LLM skipped (--skip-llm)
- ctis·2024-513145-36-00·Authorised, ongoing·Intracochlear Triamcinolone acetonide
in sudden sensorineural hearing loss
patients - a prospective observer
blinded randomized study
skipped — LLM skipped (--skip-llm)
- ctis·2024-514282-19-00·Authorised, ongoing·Evaluation of the efficacy of sphenopalatine block in headache in patients with non-traumatic subarachnoid hemorrhage (SAH) after training of neurosurgical intensive care nurses.
skipped — LLM skipped (--skip-llm)
- ctis·2024-518489-29-00·Expired·A Phase 1/2 Multicenter, Open-label, Dose Escalation, Safety and Efficacy Study of Subretinal Administration of Dual AAV8.MYO7A, AAVB-081 in Participants with Usher Syndrome Type 1B (USH1B) Retinitis Pigmentosa
skipped — LLM skipped (--skip-llm)
- ctis·2024-514635-26-00·Authorised, ongoing·A clinical trial in children and adolescents with primary malignant liver cancer - Hepatoblastoma and Hepatocarcinoma
skipped — LLM skipped (--skip-llm)
- ctis·2024-517101-87-00·Authorised, ongoing·A Multi-center, Double-Blind, Randomized, Two-Arm, Parallel-Group, Placebo Controlled Study to Assess the Efficacy and Safety of ELGN-2112 on Intestinal Malabsorption in Preterm Infants
skipped — LLM skipped (--skip-llm)
- ctis·2024-518347-38-00·Authorised, recruiting·A Multicenter, Two-arm, Double-blind, Double dummy, Parallel-group Study for efficacy and safety evaluation of prolonged release formulation of Betahistine PR 48 mg once daily in comparison with conventional release formulation of Betahistine IR 24 mg, twice daily in treatment of adult patients with Menière's disease
skipped — LLM skipped (--skip-llm)
- ctis·2024-510798-84-00·Authorised, ongoing·Hyperbaric oxygen treatment added to standard care for acute idiopathic sudden sensorineural hearing loss - a multicentre randomized controlled trial
skipped — LLM skipped (--skip-llm)
- ctis·2024-512498-29-00·Expired·Extracellular Vesicle-enriched Secretome Fraction (VSF1.01) for the Reduction of Cochlear Implant Surgery Related Trauma (ESCRT). An open-label monocentric phase I/IIa pilot study to investigate the safety of intracochlear application of VSF1.01 enriched with hUC-MSC-EVs in patients receiving cochlear implantation.
skipped — LLM skipped (--skip-llm)
- ctis·2024-515237-15-00·Revoked·NRG-HN009: RANDOMIZED PHASE II/III TRIAL OF RADIATION WITH CISPLATIN AT 100 MG/M2 EVERY THREE WEEKS VERSUS RADIATION WITH WEEKLY CISPLATIN AT 40 MG/M2 FOR PATIENTS WITH LOCOREGIONALLY ADVANCED SQUAMOUS CELL CARCINOMA OF THE HEAD AND NECK (SCCHN).
skipped — LLM skipped (--skip-llm)
- ctis·2023-507994-16-00·Cancelled·A Long-term Follow-up Study to Evaluate the Safety and Efficacy of Retinal Gene Therapy in Subjects with Choroideremia Previously Treated with Adeno-Associated Viral Vector Encoding Rab Escort Protein-1 (AAV2-REP1) and in Subjects with X-Linked Retinitis Pigmentosa Previously Treated with Adeno-Associated Viral Vector Encoding RPGR (AAV8-RPGR) in an Antecedent Study (SOLSTICE)
skipped — LLM skipped (--skip-llm)
- ctis·2024-517924-20-00·Expired·PIGMENT – PDE6A gene therapy for retinitis pigmentosa
skipped — LLM skipped (--skip-llm)
- ctis·2024-511181-36-00·11·A Randomized, Controlled, Masked, Multi-center Study Evaluating the Efficacy, Safety, and Tolerability of Two Doses of AGTC-501 Compared to an Untreated Control Group in Male Participants with X-linked Retinitis Pigmentosa
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 Retinitis pigmentosa-hearing loss-premature aging-short stature-facial dysmorphism 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.
("Retinitis pigmentosa-hearing loss-premature aging-short stature-facial dysmorphism syndrome" OR "Retinitis pigmentosa-deafness-premature aging-short stature-facial dysmorphism syndrome" OR "short stature, hearing loss, retinitis pigmentosa, and distinctive facies") OR ("EXOSC2" OR "EXOSC2 syndrome" OR "EXOSC2-related")ClinicalTrials.gov query (quoted phrases + MeSH via query.cond, plus recall-expansion terms when used):
"Retinitis pigmentosa-hearing loss-premature aging-short stature-facial dysmorphism syndrome" OR "Retinitis pigmentosa-deafness-premature aging-short stature-facial dysmorphism syndrome" OR "short stature, hearing loss, retinitis pigmentosa, and distinctive facies"
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 (405) is high for prevalence class "<1 / 1 000 000" — confidence capped at medium
Ingested 2026-07-27T17:31:06.052Z