Growth Disorders: Sotos syndrome Cerebral Gigantism

Sotos syndrome (cerebral gigantism) is a rare genetic disorder caused by mutation in the NSD1 gene on chromosome 5.  It is characterized by excessive physical growth during the first few years of life. Children with Sotos syndrome tend to be large at birth and are often taller, heavier, and have larger heads (macrocrania) than is normal for their age. Symptoms of the disorder, which vary among individuals, include a disproportionately large and long head with a slightly protrusive forehead and pointed chin, large hands and feet, hypertelorism (an abnormally increased distance between the eyes), and down-slanting eyes. The disorder is often accompanied by mild mental retardation; delayed motor, cognitive, and social development; hypotonia (low muscle tone), and speech impairments. Clumsiness, an awkward gait, and unusual aggressiveness or irritability may also occur. Although most cases of Sotos syndrome occur sporadically (meaning they are not known to be inherited), familial cases have also been reported.

Treatment and Prognosis

There is no standard course of treatment for Sotos syndrome. Treatment is symptomatic.

Sotos syndrome is not a life-threatening disorder and patients may have a normal life expectancy. The initial abnormalities of Sotos syndrome usually resolve as the growth rate becomes normal after the first few years of life. Developmental delays may improve in the school-age years, and adults with Sotos syndrome are likely to be within the normal range for intellect and height. However, coordination problems may persist into adulthood.

The NINDS supports and conducts a wide range of studies which focus on identifying and learning more about the genes involved in normal brain development. The knowledge gained from these fundamental studies provides the foundation for understanding how this process can go awry and, thus, may eventually give clues to understanding disorders such as Sotos syndrome.

supported by

PICKY EATERS CLINIC Klinik Khusus Kesulitan Makan Pada Anak dan GROW UP CLINIC Klinik Khusus Gangguan Pertumbuhan Berat Badan Anak Yudhasmara Foundation www.pickyeaterschild.wordpress.com/ email : judarwanto@gmail.com

WORKING TOGETHER FOR STRONGER, HEALTHIER AND SMARTER CHILDREN BY EDUCATION, CLINICAL INTERVENTION, RESEARCH AND NETWORKING INFORMATION. Advancing of the future pediatric and future parenting to optimalized physical, mental and social health and well being for fetal, newborn, infant, children, adolescents and young adult

CHILDREN GROW UP CLINIC I

  • CHILDREN GROW UP CLINIC I, JL Taman Bendungan Asahan 5 Bendungan Hilir Jakarta Pusat 10210 Phone : 5703646 – 44466102
  • CHILDREN GROW UP CLINIC II, MENTENG SQUARE Jl Matraman 30 Jakarta Pusat 10430 Phone 44466103 – 97730777
LAYANAN KLINIK KHUSUS “CHILDREN GRoW UP CLINIC”

PROFESIONAL MEDIS “CHILDREN GRoW UP CLINIC”

  • Dr Narulita Dewi SpKFR, Physical Medicine & Rehabilitation
  • Dr Widodo Judarwanto SpA, Pediatrician
  • Fisioterapis

Clinical – Editor in Chief :

Dr WIDODO JUDARWANTO, pediatrician

Information on this web site is provided for informational purposes only and is not a substitute for professional medical advice. You should not use the information on this web site for diagnosing or treating a medical or health condition. You should carefully read all product packaging. If you have or suspect you have a medical problem, promptly contact your professional healthcare provider

Copyright © 2012, Picky Eaters and Grow Up Clinic, Information Education Network. All rights reserved

Tinggalkan Balasan

Isikan data di bawah atau klik salah satu ikon untuk log in:

Logo WordPress.com

You are commenting using your WordPress.com account. Logout / Ubah )

Gambar Twitter

You are commenting using your Twitter account. Logout / Ubah )

Foto Facebook

You are commenting using your Facebook account. Logout / Ubah )

Foto Google+

You are commenting using your Google+ account. Logout / Ubah )

Connecting to %s