[MIM 616 222]

Prevalence < 1.106. Autosomal dominant transmission of a single-parent disomy of maternal origin, a deletion of paternal origin or  a hypomethylation of some genes (14q32). The clinical presentation is similar to that of Prader-Willi syndrome (see this term) but a minority of patients have a phenotype similar to Silver-Russel syndrome in infancy (see this term).

Clinical presentation:

-         neonatal hypotonia, feeding difficulties

-        intrauterine and postnatal growth retardation, short stature

-        motor retardation

-        wide forehead, short nose with wide tip, high-arched palate, micrognathia

-        small hands and feet

-        central obesity beginning in childhood

-         precocious puberty

-        dolichospondyly: elongated vertebral body

Anesthetic implications:

short stature, overweight, mental retardation

References :

-        Ioannides Y, Lokulo-Sodipe K, Mackay DJG, Davies JH, Temple IK.
Temple syndrome : improving the recognition of an underdiagnosed chromosome 14 imprinting disorder : an analysis of 51 published cases.
J Med Genet 2014 ; 51 : 495-501.

-        Goto M, Kagami M, Nishimura G,Yamagata T.
A patient with Temple syndrome satisfying the clinical diagnostic criteria of Silver–Russell syndrome.
Am J Med Genet Part A, 2016 ; 170A:2483–5.

Updated: May 2020