|Achondroplasia||A disorder of bone growth that causes the most common type of dwarfism. Can be an autosomal dominant condition but more often
is caused by a spontaneous genetic mutation.
Health Supervision for Children with Achondroplasia Published: Pediatrics, September 2005 (Reaffirmed July 2012).
Authors: Tracy L Trotter, MD, Judith G Hall, OC, MD, and the Committee on Genetics.
|Down Syndrome||Down syndrome (DS), also commonly known as trisomy 21, is the most common genetic disorder causing mental retardation and
the most frequently occurring human chromosomal syndrome. Health Supervision for Children with Down Syndrome Published: Pediatrics, August 2011.
Author: Committee on Genetics.
|Fragile X Syndrome||Fragile X syndrome (FXS), caused by a mutation of the FMR1 gene of the X chromosome, is the most common form of inherited
intellectual disability. Health Supervision for Children with Fragile X Syndrome Published: Pediatrics, April 2011.
Authors: Joseph H Hersh, MD, Robert A Saul, MD, and the Committee on Genetics.
|Marfan syndrome||A disorder of connective tissue caused by defects in fibrillin-1, a gene involved in connective tissue affecting the skeleton,
cardiovascular system, eyes and skin. People with Marfan syndrome tend to be tall and have long, thin extremities.
Health Supervision for Children with Marfan Syndrome Published: Pediatrics, October 2013
Authors: Tinkle BT, Saal HM, and the Committee on Genetics.
|Neurofibromatosis Type 1||Neurofibromatosis type 1 (NF1) is a common autosomal dominant neurocutaneous genetic disorder, first described in the medical
literature in 1882 and previously known as von Recklinghausen disease. Health Supervision for Children with Neurofibromatosis Published: Pediatrics, March 2008.
Authors: Joseph H Hersh, MD, Committee on Genetics.
|Prader-Willi Syndrome||Prader-Willi syndrome (PWS) is the most common genetically-identified cause of life-threatening obesity in humans. Health Supervision for Children with Prader-Willi Syndrome Published: Pediatrics, December 2010.
Authors: The Committee on Genetics.
|Sickle cell disease||A red blood cell disorder caused by the presence of hemoglobin S in the absence of hemoglobin A. Health Supervision for Children with Sickle Cell Disease Published: Pediatrics, March 2002 (Reaffirmed January 2011).
Authors: Section on Hematology/Oncology and Committee on Genetics.
|Turner Syndrome||Turner Syndrome (TS) is a genetic condition that occurs in approximately 1/2500 live female births. TS is caused by complete
or partial loss of the second sex or gender determining-chromosome. Health Supervision for Children with Turner Syndrome ( 432 KB) Published: Pediatrics, March 2003 (Retired in 2008).
Authors: Frias JL, Davenport ML, Committee on Genetics, and Section on Endocrinology.
|Williams syndrome||A genetic syndrome affecting 1 in 10,000 births, characterized by cardiovascular disorders, developmental delays, and learning difficulties as well as strong verbal and musical abilities and very social personalities. Health Supervision for Children with Williams Syndrome Published: Pediatrics, May 2001 (Reaffirmed January 2009) Authors: Committee on Genetics.|
Genetics in Primary Care Institute (AAP)
The goal of this site is to increase collaboration in the care of children with known or suspected genetic disorders. Includes health supervision guidelines and other useful resources; a collaboration among the Health Resources & Services Administration, the Maternal and Child Health Bureau, and the American Academy of Pediatrics.
Policy Statements American Academy of Pediatrics
AAP Policy Statements, Clinical Practice Guidelines, Technical Reports, Affirmations of Value, and Parent Pages. These codify the role of pediatricians and other primary care providers in providing comprehensive care for children with chronic and complex conditions and define the Medical Home concept and applying it to all children, with a particular emphasis on Children with Special Health Care Needs.
National Guideline Clearinghouse
The US Department of Health and Human Services Agency for Healthcare Research and Quality (AHRQ) maintains the National Guideline Clearinghouse, an extensive database of guidelines. The majority are not specific to children.
American Academy of Pediatrics (AAP) Endorsed Practice Guidelines
A list of links to health supervision guidelines published by other organizations and then endorsed by the AAP. Includes many child health topics such as constipation, jaundice, neuroimaging of the neonate, vesicoureteral reflux, depression, fluoride use, and many more.
American Academy of Pediatrics (AAP) Section on Neurology
AAP’s Section on Neurology’s compilation of policy statements and guidelines including topics such as seizures, cerebral palsy, autism, ADHD, and head injury in addition to others.
American Academy of Child and Adolescent Psychiatry (AACAP) Practice Parameters
Clinical practice guidelines reviewed and periodically updated. These are designed to encourage best practices in child mental health. Includes a variety of topics such as obsessive-compulsive disorder, use of psychotropic medications, and gay, lesbian, bisexual, and transgender youth issues.
American College of Medical Genetics and Genomics (ACMG) Practice Guidelines
The ACMG practice guidelines offer screening and genetic testing guidelines and algorithms for a variety of genetic conditions.
American Academy of Neurology Practice Guidelines for Child Neurology
A compilation of practice guidelines for a variety of congenital and acquired neurological conditions affecting children, including headaches, epilepsy, concussion, cerebral palsy, global developmental delay, and sudden hearing loss as well as many others.