Type: Genetic syndrome
CHARGE syndrome
Multiple-anomaly disorder summarized by the CHARGE acronym.
Cornelia de Lange syndrome
Multisystem developmental disorder with distinctive facies, growth restriction and limb anomalies.
Cri-du-chat syndrome
Deletion of short arm of chromosome 5 with characteristic high-pitched cat-like cry.
Klinefelter syndrome
Extra X chromosome in males causing hypogonadism and infertility.
Phelan-McDermid syndrome
Deletion involving SHANK3 with developmental delay, absent speech and autism features.
Prader-Willi/Angelman region disorders
Smith-Magenis syndrome: deletion disorder with sleep disturbance and behavioral features.
Treacher Collins syndrome
Craniofacial disorder of the first/second branchial arches.
Williams syndrome
Microdeletion disorder with cardiovascular disease, distinctive facies and a sociable personality.
Submit Your Paper to GMJ
No APC until January 2027.