[1][2][3][4] The symptoms associated with this syndrome are variable, but common features include: low birthweight, low muscle tone at birth, poor feeding in infancy (often requiring feeding by tube for a period) and oromotor dyspraxia together with moderate developmental delays and learning disabilities but amiable behaviour.

[7] An overview of the clinical features of the syndrome, by reviewing 22 individuals with a 17q21.31 microdeletion, estimated the disorder is present in 1 in every 16,000 people.

[8] The recurrent deletion is between 500 and 650 kilobases (Kb) in size encompassing at least six genes, among them the microtubule-associated protein tau (MAPT).

A review of five patients found the parental chromosome from which the deletion originated carried a common 900kb inversion polymorphism.

[11] Treatment centres around the symptoms in each individual and can include: early physiotherapy for feeding and motor problems, physiotherapy for strengthening the muscles, speech therapy, sign language, alternative or augmentative communication devices, special education, routine antiepileptic medications, orthopaedic care for scoliosis, hip dislocation and positional deformities of the feet, treatment for cardiac, renal, urologic and other medical issues and surgery for cryptorchidism if indicated.