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Features include always present findings: Global developmental delay; and common findings: Hearing loss (hearing impairment), Short stature, Ventricular septal defect, and Cataract and others. 35 total HPO annotations.
Organ System | Phenotype Count | Example Features |
|---|---|---|
Brain and nerves | 4 | Brain atrophy, Global developmental delay, Tip-toe gait |
SMG8 function has not been fully characterized.
Alzahrani-Kuwahara syndrome is caused by mutations in the SMG8 gene on chromosome 17.
Genetic testing for SMG8 is available. Testing is considered confirmatory for diagnosis.
Phenotype severity distribution: 1 always present feature, 8 common features.
No clinical trials have been registered for Alzahrani-Kuwahara syndrome.
1 publication has been identified in PubMed for Alzahrani-Kuwahara syndrome. Research spans Basic Science / Preclinical (100%).
Lai S (2024). [PMID: 38806677](https://pubmed.ncbi.nlm.nih.gov/38806677/). *Commun Biol*. [Basic Science / Preclinical]
Data assembled from 6 of 12 sources · Last updated Sep 20, 2026, 2:45 PM UTC
Online Mendelian Inheritance in Man
Genetic and Rare Diseases Info Center
Common questions about Alzahrani-Kuwahara syndrome
Eyes
3 |
Strabismus, Cataract, Optic disc pallor |
Heart and blood vessels | 3 | Ventricular septal defect, Coronary sinus enlargement, Atrial septal defect |
Skin | 3 | Dry skin, Hyperpigmentation of the skin, Eczematoid dermatitis |
Lungs and breathing | 1 | Pulmonary artery sling |
Ears | 1 | Hearing loss (hearing impairment) |
Growth and development | 1 | Short stature |
Muscles | 1 | Brain atrophy |
Head and neck | 1 | Microcephaly |
Arms and legs | 1 | Tip-toe gait |
AI-curated news mentioning Alzahrani-Kuwahara 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.