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PARC syndrome is a rare genetic developmental defect during embryogenesis syndrome characterized by the association of congenital poikiloderma (P), generalized alopecia (A), retrognathism (R) and cleft palate (C). There have been no further descriptions in the literature since 1990.
Features include always present findings: Absent eyebrow, Absent eyelashes, Cleft palate, and Alopecia and others.
Organ System | Phenotype Count | Example Features |
|---|---|---|
Head and neck | 1 | Cleft palate |
Skin |
Biomarker and diagnostic research for PARC syndrome has been reported in the published literature.
Phenotype severity distribution: 6 always present features.
Estimated prevalence: <1 in 1,000,000 (VERY_RARE).
No clinical trials have been registered for PARC syndrome.
131 publications have been identified in PubMed for PARC syndrome. Research spans Basic Science / Preclinical (37%), Epidemiology / Natural History (28%), and Review / Meta-Analysis (24%).
Research Type | Count | % of Total |
|---|---|---|
Laboratory research | 49 | 37% |
Data assembled from 5 of 12 sources · Last updated Sep 19, 2026, 10:41 PM UTC
Online Mendelian Inheritance in Man
European rare disease database
Genetic and Rare Diseases Info Center
Common questions about PARC syndrome
Alopecia |
37 |
28% |
Research summaries | 31 | 24% |
Patient case studies | 7 | 5% |
Clinical study results | 3 | 2% |
Testing and diagnosis research | 2 | 2% |
Other research | 1 | 1% |
New treatment approaches | 1 | 1% |
Nalabothu P (2026). [PMID: 41825219](https://pubmed.ncbi.nlm.nih.gov/41825219/). *J Craniomaxillofac Surg*. [Basic Science / Preclinical]
Llabrés-Álvarez E (2026). [PMID: 41997709](https://pubmed.ncbi.nlm.nih.gov/41997709/). *BMJ Open*. [Clinical Trial Publication]
Wu C (2026). [PMID: 40714924](https://pubmed.ncbi.nlm.nih.gov/40714924/). *Oral Dis*. [Basic Science / Preclinical]
Evangelista JR (2026). [PMID: 41839467](https://pubmed.ncbi.nlm.nih.gov/41839467/). *Biochem Biophys Res Commun*. [Review / Meta-Analysis]
van de Velde S (2026). [PMID: 41077824](https://pubmed.ncbi.nlm.nih.gov/41077824/). *Clin Genet*. [Review / Meta-Analysis]
Budihardja AS (2026). [PMID: 41938458](https://pubmed.ncbi.nlm.nih.gov/41938458/). *Int J Surg Case Rep*. [Case Report / Case Series]
Hernández-García A (2026). [PMID: 40992710](https://pubmed.ncbi.nlm.nih.gov/40992710/). *Dev Biol*. [Basic Science / Preclinical]
Puente Espel J (2026). [PMID: 34033348](https://pubmed.ncbi.nlm.nih.gov/34033348/). *Unknown Journal*. [Epidemiology / Natural History]
Garcia-Usó M (2026). [PMID: 41004638](https://pubmed.ncbi.nlm.nih.gov/41004638/). *Cleft Palate Craniofac J*. [Epidemiology / Natural History]
Donner J (2026). [PMID: 42037250](https://pubmed.ncbi.nlm.nih.gov/42037250/). *Anim Genet*. [Basic Science / Preclinical]