Chitayat-Hall syndrome

[MIM 615 547]

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