Snyder-Robinson Syndrome

Classification according to ICD-10
Q87.8	Other specified congenital malformation syndromes, not elsewhere classified
ICD-10 online (WHO version 2019)

The Snyder-Robinson syndrome is a very rare congenital disease with the main features of mental retardation , hypotonia , unsteady gait, osteoporosis , kyphoscoliosis and asymmetry of the face .

Synonyms are: English mental retardation, X-linked, syndromic, Snyder-Robinson type; Snyder-Robinson X-linked mental retardation syndrome; semen synthase deficiency

The name refers to the authors of the first description from 1969 by RD Snyder and A. Robinson .

distribution

The frequency is given as less than 1 in 1,000,000, inheritance is X-linked - recessive .

root cause

The disease are mutations in SMS - gene at the location Xp22.11 based on what the spermine - synthase coded.

Clinical manifestations

Clinical criteria are:

• Asthenic physique
• Developmental retardation up to intellectual disability
• Facial abnormalities with prominent lower lip
• unusual language
• Kyphoscoliosis
• Osteoporosis with an increased risk of fractures , joint contractures

diagnosis

The clinical suspicion can be confirmed by molecular genetics .

Differential diagnosis

The following must be distinguished from the differential diagnosis:

• Monoamine Oxidase A Deficiency
• Glycerol kinase deficiency
• Prader-Willi Syndrome
• Rett Syndrome

literature

• Y. Peng, J. Norris, C. Schwartz, E. Alexov: Revealing the Effects of Missense Mutations Causing Snyder-Robinson Syndrome on the Stability and Dimerization of Spermine Synthase. In: International journal of molecular sciences. Vol. 17, No. 1, 2016, S., doi: 10.3390 / ijms17010077 , PMID 26761001 .
• JS Albert, N. Bhattacharyya, LA Wolfe, WP Bone, V. Maduro, J. Accardi, DR Adams, CE Schwartz, J. Norris, T. Wood, RI Gafni, MT Collins, LL Tosi, TC Markello, WA Gahl, CF Boerkoel: Impaired osteoblast and osteoclast function characterize the osteoporosis of Snyder - Robinson syndrome. In: Orphanet Journal of Rare Diseases. Vol. 10, 2015, p. 27, doi: 10.1186 / s13023-015-0235-8 , PMID 25888122 , PMC 4428506 (free full text).

Individual evidence

1. ↑ ^{a b} Mental retardation, X-linked, Snyder type. In: Orphanet (Rare Disease Database).
2. ↑ Genetrics Home Reference
3. ^ RD Snyder, A. Robinson: Recessive sex-linked mental retardation in the absence of other recognizable abnormalities. Report of a family. In: Clinical pediatrics. Vol. 8, No. 11, November 1969, pp. 669-674, PMID 5823961 .
4. ^ Mental retardation, X-linked, Snyder-Robinson type.  In: Online Mendelian Inheritance in Man . (English)
5. ↑ ^{a b c} Gene Reviews
6. ↑ Orphanet monoamine oxidase A deficiency

This article is about a health issue. It is not used for self-diagnosis and does not replace a diagnosis by a doctor. Please note the information on health issues !