Schaaf–Yang syndrome

Schaaf–Yang syndrome
Other namesPrader–Willi-like syndrome (PWLS), Chitayat–Hall syndrome
Person showing facial features of SYS, such as: Trigonocephaly and tooth malposition. Also limb contractures can be seen.
SpecialtyNeurology, Medical genetics, Endocrinology
SymptomsFacial shape abnormality, undescended testes, feeding problems, hypotonia, flexion contracture, global developmental delay
CausesGenetic mutations
Diagnostic methodGenetic testing
PrognosisReduced life expectancy
Prevalence<1 in 1,000,000

Schaaf–Yang syndrome (SYS) is a rare genetic disorder that is caused by a heterozygous mutation in a paternal-expressed gene MAGEL2. Main signs of this disorder are: intellectual disability/developmental delay, autism spectrum disorder, hypogonadism, hypotonia in infancy with feeding problems, and distal arthrogryposis. Facial features are included short noses, dense eyebrows, and protruding jaw.

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