What is Gabriele-de Vries Syndrome?

Gabriele-de Vries Syndrome (GADEVS) is a neurodevelopmental disorder caused by a heterozygous variant of the YY1 gene, which is an autosomal dominant manner.

This syndrome is characterized by global developmental delay, facial dysmorphism, multiple congenital anomalies, and other neurological abnormalities.
Source - OMIM - Online Mendelian Inheritance in Man

Prevalence and Onset

Prevalence

GADEVS is extremely rare, with a prevalence of less than 1 in 1,000,000.

Onset

Primarily antenatal or neonatal, the onset of GADEVS happens very early a patient's life.

Symptoms

The symptoms associated with GADEVS include:

  • Developmental delay and intellectual disability
  • Dysmorphic facial features
  • Growth retardation
  • Neurological abnormalities including abnormal neuroimaging
  • Behavioral problems
  • Multiple congenital anomalies: Eye, heart, kidney, and skeletal system

Diagnosis

Whole exome sequencing is the best diagnostic approach to reach a diagnosis of GADEVS.

One such case describes a 9-month-old female, with various symptoms, who ended their diagnostic odyssey in a similar fashion.

Inheritance Pattern

GADEVS is inherited in an autosomal dominant manner, per NCBI.

Treatment

Dependent upon both when the patient is diagnosed and severity of clinical manifestation, various types of rehabilitation therapy may be applied.

Communities