[MIM 618 889)

(short stature-skeletal dysplasia-retinal degeneration-intellectual disability-sensorineural deafness)

A few families descending from the same ancestor living in the Azoreshave been described in Portugal and Brazil . Autosomal recessive transmission of a mutation (deletion of 3.36 Mb) on chromosome 22q12.2 including the exon located just before the last exon of the PISD gene coding for decarboxylase phosphatidylserine. This enzyme is responsible for the transformation of phosphatidylserine into phosphatidylethanolamine, an essential phospholipid in all cell membranes and especially in the mitochondria. Decarboxylase phosphatidylserine is found in the inner membrane of the mitochondria. Phenotypic presentation is highly variable and is linked to mitochondrial dysfunction (this syndrome belongs to the group of "mitochondrial chaperonopathies") and disorders of phospholipid synthesis.

Form of spondyloepimetaphyseal dysplasia with:

-        early retinal degeneration

-        hearing loss of sensory origin

-        microcephaly appearing in the postnatal period

-        skeletal dysplasia and cyphoscoliosis

-        short stature, ligamentary hyperlaxity

-         mental retardation

Anesthetic implications:

short stature: be careful about the size and length of the tracheal tube; fragile teeth.

References :

-        Peter VG, Quinodoz M, Pinto-Basto J, Sousa SB et al.
The Liberfarb syndrome, a multisystem disorder affecting eye, ear, bone, and brain development, is caused by a founder pathogenic variant in the PISD gene.
Genet Med 2019; 21: 2734-43.

Updated: February 2020