Jul 6, 2019

Expansion of phenotype of DDX3X syndrome: six new cases

Clinical Dysmorphology
Bryony BealHimanshu Goel


Pathogenic variants in DDX3X have recently been identified to be a relatively common cause of intellectual disability in females. In this study, we describe six female probands, from five unrelated families, with five novel heterozygous variants in DDX3X, and the identification of potential germline mosaicism. Consistent features between this cohort and previously described cases include developmental delay or intellectual disability, growth disturbance and movement disorder. Common facial dysmorphism within the cohort include short palpebral fissures, micrognathia, bulbous nasal tip, protruding ears, high arched palate, thin upper vermillion and smooth philtrum. Novel clinical features identified from this cohort include facial dysmorphisms, perinatal complications, valgus feet deformity, lipoatrophy, dystonic episodes, and cutaneous mastocytosis. This case series attempts to expand the phenotype of the DDX3X syndrome; however, it remains heterogeneous. Description of further cases is required to more accurately identify the significance of novel phenotypes within this cohort.

Mentioned in this Paper

Germ-Line Mutation
Body Dysmorphic Disorders
Catheter Tip
Cutaneous Mastocytosis
Cell Growth
DDX3X gene
Cleft Palate

Related Feeds

Body Dysmorphic Disorder

Body dysmorphic disorder is an intense preoccupation with an imagined defect in ones physical appearance. It can be a severely impairing disorder and is common among patients with obsessive-compulsive disorder. Discover the latest research on body dysmorphic disorder here.

Birth Defects

Birth defects encompass structural and functional alterations that occur during embryonic or fetal development and are present since birth. The cause may be genetic, environmental or unknown and can result in physical and/or mental impairment. Here is the latest research on birth defects.

© 2020 Meta ULC. All rights reserved