IllnessCoffin-Lowry syndrome, differential diagnosis

NGS +

The symptoms of Coffin-Lowry syndrome are usually more severe in males than in females, although features range from very mild to severe in affected females. Males with Coffin-Lowry syndrome typically have severe intellectual disability and delayed development. Affected women may be cognitively normal, or they may have mild to severe intellectual disability. Beginning in childhood or adolescence, some of these patients experience brief episodes of seizures when they are excited or startled by a loud noise, called stimulus-induced falling episodes. Most affected males and some affected females have distinctive facial features of prominent forehead with hypertelorism and downward-outward sloping palpebral fissures, a short nose with a broad tip, and a wide mouth with full lips. These features become more pronounced with age. Short, pointed fingers are also characteristic. Other features include short stature, microcephaly, kyphoscoliosis and other skeletal abnormalities. The mode of inheritance is X-linked dominant, with 75% of cases occurring de novo. The diagnostic yield via molecular genetics is not known. Therefore, a negative molecular genetic result does not exclude the clinical diagnosis.

Reference: https://www.ncbi.nlm.nih.gov/books/NBK1346/

• Sy: ID [male>female]; neuropsych. s. [stimulus-induced drop attacks, spastic., paraplegia, stroke]
• Allelic: Nonsyndromic XL mental retardation-19 (RPS6KA3)
• Alpha-thalassemia/mental retardation syndrome (ATRX)
• Aneurysm, intracranial berry, 1 (meta-analytically confirmed risk locus ELN)
• Borjeson-Forssman-Lehmann syndrome (PHF6)
• Coffin-Lowry syndrome (RPS6KA3)
• Corneal dystrophy, Fuchs endothelial, 3 (TCF4)
• Cutis laxa, AD [Cutis laxa, ELN-related] (ELN)
• Lujan-Fryns syndrome (MED12)
• Mental retardation, XL (RPS6KA3)
• Mental retardation-hypotonic facies syndrome, XL (ATRX)
• Ohdo syndrome, XL (MED12)
• Opitz-Kaveggia syndrome [FG syndrome type 1] (MED12)
• Pitt-Hopkins syndrome (TCF4)
• Supravalvar aortic stenosis (ELN)