Presentation
[…] patients have significant similarities of facial gestalt to earlier reported 17q21.31 microdeletion patients, but a striking feature that has not been emphasized previously is the large number of naevi and other pigmentary skin abnormalities that may be present [research.manchester.ac.uk]
Major anomalies, seizures, joint hyperlaxity and eye anomalies can be also present, but are less common. [cambridge.org]
This deletion syndrome was discovered independently in 2006 by three different research groups.[1][2][3][4][5][6][7][8][9][excessive citations] Presentation[edit] The symptoms associated with this syndrome are variable, but common features include: low [en.wikipedia.org]
Entire Body System
- Disproportionate Short Stature
At the examination at 19 years of age both twins had disproportionately short stature (Twin A 153.3 cm, the 1st centile; Twin B 157.7 cm, the 6th centile) with shortening of upper and lower limbs, thoracic hyperkyphosis, low-pitched voice and similar [cambridge.org]
Jaw & Teeth
- Widely Spaced Teeth
Twin B had wide-spaced teeth and diastema, and slightly more coarse facial features compared to Twin A. However, especially with respect to their age, the overall clinical picture of both twins was remarkably similar. [cambridge.org]
Neurologic
- Seizure
Major anomalies, seizures, joint hyperlaxity and eye anomalies can be also present, but are less common. [cambridge.org]
Workup
Serum
- Hyperviscosity
Partial exchange transfusion had to be administered due to polyglobulia and hyperviscosity syndrome. The newborn suffered from left-side hypotonic hydronephrosis with reflux. [cambridge.org]
Treatment
The symptoms of Koolen–de Vries syndrome can be very variable, and there is no single clinical sign required to establish the diagnosis.[11] Treatment[edit] Treatment centres around the symptoms in each individual and can include: early physiotherapy [en.wikipedia.org]
Epidemiology
Adolescent Adult Brain/abnormalities Child, Preschool Chromosome Deletion Chromosome Inversion Chromosomes, Human, Pair 17 Cohort Studies Face/pathology Female Gene Dosage Gene Frequency Haplotypes Humans Intellectual Disability/epidemiology Magnetic [research.rug.nl]