Gabriele-de Vries Syndrome

Clinical Characteristics
Ocular Features: 

A number of nondiagnostic signs occur in the periocular structures as part of the general facial dysmorphism.  There is a general fullness to the periocular area, most evident in the upper eyelids.  The lid fissures slant downward and the eyebrows are sparse.  Strabismus is often present.  Ptosis has been noted in a few individuals.

Systemic Features: 

Systemic signs are inconsistent and highly variable.  Intrauterine growth is usually below average.  Feeding problems are evident from birth.  The facial dysmorphology is highlighted by a high, broad forehead and accentuated by micrognathia and midface hypoplasia.  The ears are posteriorly rotated.  General development is delayed and milestones, if achieved, are delayed.  Behavioral problems can be manifest as anxiety and some individuals have features of the autism spectrum.  Abnormal movements such as tremor and dystonia are sometimes present.

Brain imaging may reveal delayed myelination, frontal gliosis, white matter abnormalities, and enlarged ventricles.


Heterozygous mutations in the YY1 gene (14q32) have been identified in this condition.  The gene is a transcription factor that acts both as a repressor and an activator in specific circumstances.  Virtually all cases occur de novo.

Autosomal dominant
Treatment Options: 

No effective generalized treatment has been reported.

Article Title: 

YY1 Haploinsufficiency Causes an Intellectual Disability Syndrome Featuring Transcriptional and Chromatin Dysfunction

Gabriele M, Vulto-van Silfhout AT, Germain PL, Vitriolo A, Kumar R, Douglas E, Haan E, Kosaki K, Takenouchi T, Rauch A, Steindl K, Frengen E, Misceo D, Pedurupillay CRJ, Stromme P, Rosenfeld JA, Shao Y, Craigen WJ, Schaaf CP, Rodriguez-Buritica D, Farach L, Friedman J, Thulin P, McLean SD, Nugent KM, Morton J, Nicholl J, Andrieux J, Stray-Pedersen A, Chambon P, Patrier S, Lynch SA, Kjaergaard S, Torring PM, Brasch-Andersen C, Ronan A, van Haeringen A, Anderson PJ, Powis Z, Brunner HG, Pfundt R, Schuurs-Hoeijmakers JHM, van Bon BWM, Lelieveld S, Gilissen C, Nillesen WM, Vissers LELM, Gecz J, Koolen DA, Testa G, de Vries BBA. YY1 Haploinsufficiency Causes an Intellectual Disability Syndrome Featuring Transcriptional and Chromatin Dysfunction. Am J Hum Genet. 2017 Jun 1;100(6):907-925.

PubMed ID: 
Subscribe to RSS - GADEVS