Abeer Fatima4 months ago

Signs and Symptoms of Laurence-Moon Syndrome

Laurence-Moon syndrome is synonymous with adipogenital-retinitis pigmentosa syndrome. It arises due to mutations in gene PNPLA6. It follows an autosomal recessive pattern. The signs and symptoms of Laurence-Moon syndrome are: - Structural abnormalities of limbs - Postaxial polydactyly - Flat arch of foot - Taurodontism - Wide-based stance - Ataxia - Gradual vision loss - Learning difficulties - Hypothyroidism - Decreased levels of sex hormone - Underdeveloped gonads - Brachycephaly - Arrhythmias Reference: https://rarediseases.org/rare-diseases/laurence-moon-syndrome/ Image via: frontiersin.org/articles/10.3389/fcell.2021.635216/full