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Perrault syndrome (PS) is characterized by the association of ovarian dysgenesis in females with sensorineural hearing impairment. In more recent PS reports, some authors have described neurologic abnormalities, notably progressive cerebellar ataxia and intellectual deficit.
Features include very common findings: Inner ear hearing loss (sensorineural hearing impairment) and Increased circulating gonadotropin level; and common findings: Hypoplasia of the uterus, Primary amenorrhea, Premature ovarian insufficiency, and Streak ovary. 19 total HPO annotations.
Organ System | Phenotype Count | Example Features |
|---|---|---|
Brain and nerves | 4 | Ataxia, Global developmental delay, Specific learning disability |
Phenotype severity distribution: 2 very common features, 4 common features.
Estimated prevalence: <1 in 1,000,000 (VERY_RARE).
No clinical trials have been registered for Perrault syndrome.
30 publications have been identified in PubMed for Perrault syndrome. Research spans Basic Science / Preclinical (63%), Case Report / Case Series (33%), and Review / Meta-Analysis (3%).
Research Type | Count | % of Total |
|---|---|---|
Laboratory research | 19 | 63% |
Data assembled from 4 of 12 sources · Last updated Sep 18, 2026, 1:38 PM UTC
European rare disease database
Genetic and Rare Diseases Info Center
Common questions about Perrault syndrome
Hormones | 2 | Primary amenorrhea, Secondary amenorrhea |
Head and neck | 2 | Cleft palate, High palate |
Ears | 1 | Inner ear hearing loss (sensorineural hearing impairment) |
Growth and development | 1 | Disproportionate tall stature |
Age of onset: at birth, childhood.
10 |
33% |
Research summaries | 1 | 3% |
Finsterer J (2026). [PMID: 42077717](https://pubmed.ncbi.nlm.nih.gov/42077717/). *Cureus*. [Case Report / Case Series]
Ahmad N (2026). [PMID: 41525964](https://pubmed.ncbi.nlm.nih.gov/41525964/). *Clinica chimica acta; international journal of clinical chemistry*. [Basic Science / Preclinical]
Wu SL (2026). [PMID: 41722370](https://pubmed.ncbi.nlm.nih.gov/41722370/). *Stem cell research*. [Basic Science / Preclinical]
Wang W (2026). [PMID: 41765062](https://pubmed.ncbi.nlm.nih.gov/41765062/). *Mitochondrion*. [Basic Science / Preclinical]
Lin Z (2026). [PMID: 41783587](https://pubmed.ncbi.nlm.nih.gov/41783587/). *Frontiers in genetics*. [Basic Science / Preclinical]
Shokouhian E (2026). [PMID: 39847269](https://pubmed.ncbi.nlm.nih.gov/39847269/). *Journal of applied genetics*. [Basic Science / Preclinical]
Zakrocka I (2026). [PMID: 41862133](https://pubmed.ncbi.nlm.nih.gov/41862133/). *Kidney international*. [Case Report / Case Series]
Lai KL (2026). [PMID: 41772230](https://pubmed.ncbi.nlm.nih.gov/41772230/). *Neurogenetics*. [Case Report / Case Series]
Saber E (2026). [PMID: 41987575](https://pubmed.ncbi.nlm.nih.gov/41987575/). *Mov Disord Clin Pract*. [Case Report / Case Series]
Li H (2025). [PMID: 40669787](https://pubmed.ncbi.nlm.nih.gov/40669787/). *Gene*. [Review / Meta-Analysis]
AI-curated news mentioning Perrault syndrome
Updated Feb 27, 2026
Research demonstrates that patient-derived TWNK variants effectively model multisystem Perrault syndrome pathology in mice. This study provides insights into the disease mechanisms and potential therapeutic targets.