Laryngotracheal stenosis, Arthropathy, Prognathism, and Short stature(English)

• a rare genetic connective tissue disorder caused by SMAD4 gene mutations. It is a multisystem disease characterized by intellectual disability, progressive fibrosis, restricted joint mobility, hearing loss, and distinct facial features. Also known as Myhre syndrome. Rarely as LAPSS=LAPS syndrome
• ADHD, ASD, ENT, GI, IgA, IgG, SMAD4
• Genetics, Gastroenterology, Skeleton and bone (formation), ENT
• https://www.ncb…ooks/NBK425723/