syndromic X-linked intellectual disability Snyder type

A syndromic X-linked intellectual disability characterized by mild to profound intellectual disability, facial asymmetry, marfanoid habitus, asthenic habitus, unsteady gait, thickened lower lip, nasal dysarthic speech, narrow or cleft palate, osteoporosis, kyp

A syndromic X-linked intellectual disability characterized by mild to profound intellectual disability, facial asymmetry, marfanoid habitus, asthenic habitus, unsteady gait, thickened lower lip, nasal dysarthic speech, narrow or cleft palate, osteoporosis, kyphoscoliosis, long great toes, short stature, pectus carinatum, and myopia that has_material_basis_in mutation in the SMS gene on chromosome Xp22.

Signs and symptoms

• Sparse eyebrow
• Smooth philtrum
• Hoarse voice
• Dental crowding
• Long hallux
• Intellectual disability
• Global developmental delay
• Pectus excavatum
• High, narrow palate
• Brachycephaly

Also known as: SRS; Snyder-Robinson mental retardation syndrome; Snyder-Robinson syndrome; mental retardation, X-linked, Snyder-Robinson type; spermine synthase deficiency