Chitayat-Hall syndrome
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Prevalence < 1.106. Autosomal recessive transmission of a pathogenic variant of the MAGEL2 gene (15q11-q13). Other mutations of the same gene produce the Schaaf-Yang syndrome (see this term).
- distal arthrogryposis: camptodactyly, hammer toes
- hypotonia: almond-shaped eyes, myopathic facies
- facial dysmorphism: square face, small nose, chubby cheeks, micrognathia
- hypopituitarism: mainly growth hormone deficiency: risk of hypoglycemia before treatment
- excess subcutaneous fat
- scoliosis, kyphosis
- severe mental retardation
- sometimes ASD
Anesthetic implications:
hypotonia, risk of hypoglycemia, difficult venous access
References:
- Jobling R, Stavropoulos DJ, Marshall CR et al.
Chitayat-Hall ans Schaaf-Yang syndromes : a common aetiology : expanding the phenotype of MAGEL2-related disorders.
J Med Genet 2018 ; 55 : 316-21.
Updated: May 2020