Snyder–Robinson syndrome (SRS) is an extremely rare inherited genetic disorder[1] characterized by muscular and skeletal abnormalities, varying degrees of intellectual disability, seizures,[2] and slow development.

[3] During early childhood, SRS causes mild to profound intellectual disability; speech difficulties; problems with walking; osteoporosis; marfanoid habitus; and scoliosis, kyphosis, or both (kyphoscoliosis).

[citation needed] Other symptoms that frequently appear in patients with Snyder-Robinson syndrome include arachnodactyly, decreased muscle mass, disproportionately tall stature, long and narrow face, nasal speech, slender toe, and thick lower lip vermilion.

[citation needed] When SRS is suspected, doctors will order a molecular genetic test to confirm a mutation in the SMS gene—specifically a "hemizygous loss-of-function... pathogenic variant".

[10] SRS was first reported in a 1969 paper published in Clinical Pediatrics by Russell D. Snyder[11] and Arthur Robinson, who described the syndrome as "recessive sex-linked mental retardation in the absence of other recognizable abnormalities".