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Aase-Smith syndrome type I is a very rare genetic disorder characterized by the following congenital malformations: hydrocephalus (due to Dandy-Walker anomaly), cleft palate, and severe joint contractures.
Features include: Cleft palate, Talipes equinovarus, Open mouth, and Flexion contracture and 7 more.
Organ System | Phenotype Count | Example Features |
|---|---|---|
Head and neck | 1 | Cleft palate |
Muscles |
Biomarker and diagnostic research for Aase-Smith syndrome has been reported in the published literature.
Estimated prevalence: <1 in 1,000,000 (VERY_RARE).
No clinical trials have been registered for Aase-Smith syndrome.
4 publications have been identified in PubMed for Aase-Smith syndrome. Research spans Diagnostic / Biomarker (25%), Case Report / Case Series (25%), and Basic Science / Preclinical (25%).
Aljarad S (2025). [PMID: 40162151](https://pubmed.ncbi.nlm.nih.gov/40162151/). *Oxford medical case reports*. [Case Report / Case Series]
Jankowski J (2024). [PMID: 39727481](https://pubmed.ncbi.nlm.nih.gov/39727481/). *Antibodies (Basel, Switzerland)*. [Diagnostic / Biomarker]
Simokat C (2024). [PMID: 39445182](https://pubmed.ncbi.nlm.nih.gov/39445182/). *Ecology and evolution*. [Epidemiology / Natural History]
Bi Y (2024). [PMID: 38737245](https://pubmed.ncbi.nlm.nih.gov/38737245/). *Heliyon*. [Basic Science / Preclinical]
Data assembled from 5 of 12 sources · Last updated Sep 19, 2026, 3:46 PM UTC
Online Mendelian Inheritance in Man
European rare disease database
Genetic and Rare Diseases Info Center
Common questions about Aase-Smith syndrome
Flexion contracture |
Heart and blood vessels | 1 | Ventricular septal defect |
Eyes | 1 | Ptosis |
Brain and nerves | 1 | Hydrocephalus |
Pregnancy and birth | 1 | Congenital neuroblastoma |
Arms and legs | 1 | Slender finger |
AI-curated news mentioning Aase-Smith syndrome
Updated Jul 8, 2026
A new treatment for children aged 2 or older with sickle cell disease has been approved by the U.S. Food & Drug Administration. In a press release on Wednesday, the FDA announced it had approved Casgevy, the first gene therapy for children with sickle cell disease. (NewsNation) — A new treatment for children aged 2 or older with sickle cell disease has been approved by the Food & Drug Administration (FDA). In a Wednesday news release, the FDA announced it had approved Casgevy, the first gene therapy for children with the disease. “Casgevy is a gene therapy consisting of the patient’s own (autologous) hematopoietic (blood) stem cells, administered as a one-time single dose for intravenous infusion,” the release noted. “Pediatric patients as young as 2 years of age can now access a critical additional treatment option to treat these debilitating, life-threatening diseases,” Karim Mikhail, the acting director of the Center for Biologics Evaluation and Research, wrote. “These disorders carry a heavy burden for children and their families, affecting growth, development, and long-term health in profound ways,” Megha Kaushal, acting deputy director of the Office of Therapeutic Products in CBER, said in the release.