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
Query health: suspect — Only one of 2 strategies returned hits (phrase).
Publications
24
40th percentile
Trials
0
Interventional, condition-specific
Researchers
133
Distinct authors in sample
Gene link
EXOSC2
Strong
Readiness
2/6
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.”
2/6 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
24 matched papers (24 in last 10 years) Source
- Phenotype characterisedNot checked
Not yet enriched from Monarch / HPO
- Animal modelNot checked
Not yet enriched from Monarch / Alliance
- Orphan designationNot checked
FDA/EMA orphan-drug designation not enriched yet
- 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)
Not enriched in this build — Monarch phenotype joins were not run for this record.
Animal models (Monarch / Alliance)
Not enriched in this build.
Literature
Is anyone studying this?
24
24 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=5449) is 41.
24 papers since the earliest indexed year in this search — median last-10-year count for a rare disease in this dataset is 41 (publications denominator n=5449).
24 in the last 10 years · high confidence · 40th 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 27 July 2026
No matched interventional trials. This is true for 73% of diseases in the trials denominator (5114 of 7003). Here are the researchers publishing on it.
high confidence · 36.5th 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.
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 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"
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" OR "EXOSC2"
Recall-expansion terms: EXOSC2
Study-type breakdown: 0 interventional · 0 observational · 0 expanded access. Only interventional studies enter the trial headline.
Query health: suspect — strategies attempted: phrase, recall-expansion; 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 2026-07-27T17:31:06.052Z