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Any acrofacial dysostosis in which the cause of the disease is a mutation in the POLR1A gene.
Features include always present findings: Cavum septum pellucidum, Hearing loss (hearing impairment), Short nose, and Hydrocephalus and others; and common findings: Decreased body weight, Short stature, Acetabular dysplasia, and Aplastic zygomatic arch and others. 99 total HPO annotations.
Organ System | Phenotype Count | Example Features |
|---|---|---|
Brain and nerves | 16 | Hydrocephalus, Sudden, brief involuntary muscle jerks (myoclonus), Laryngeal dystonia |
POLR1A function has not been fully characterized.
Acrofacial dysostosis Cincinnati type is associated with mutations in the POLR1A gene on chromosome 2.
Genetic testing for POLR1A is available. Testing is considered confirmatory for diagnosis.
Phenotype severity distribution: 56 always present features, 26 common features.
No clinical trials have been registered for acrofacial dysostosis Cincinnati type.
1 publication has been identified in PubMed for acrofacial dysostosis Cincinnati type. Research spans Case Report / Case Series (100%).
Silvey S (2025). [PMID: 41010008](https://pubmed.ncbi.nlm.nih.gov/41010008/). *Genes (Basel)*. [Case Report / Case Series]
Data assembled from 5 of 12 sources · Last updated Sep 20, 2026, 11:12 AM UTC
Online Mendelian Inheritance in Man
Genetic and Rare Diseases Info Center
Common questions about acrofacial dysostosis Cincinnati type
Head and neck | 10 | Microcephaly, High palate, Cleft lip |
Arms and legs | 5 | Clinodactyly of the 5th finger, Lower limb spasticity, Abnormality of limbs |
Heart and blood vessels | 5 | Anomalous origin of right coronary artery from the pulmonary artery, Aortic aneurysm, Bicuspid aortic valve |
Ears | 3 | Hearing loss (hearing impairment), Recurrent otitis media, Mild hearing impairment |
Growth and development | 3 | Short stature, Failure to thrive, Intrauterine growth retardation |
Bones and joints | 3 | Joint contracture, Sideways curvature of the spine (scoliosis), Femoral bowing |
Lungs and breathing | 3 | Anomalous origin of right coronary artery from the pulmonary artery, Pulmonary artery aneurysm, Pulmonary artery stenosis |
Muscles | 2 | Joint contracture, Low muscle tone (hypotonia) |
Digestive system | 2 | Difficulty swallowing (dysphagia), Gastrostomy tube feeding in infancy |
Eyes | 1 | Ptosis |