WCH: Genetic Counseling Services

General Fact Sheets about Newborn Screening

• Screening, Technology And Research in Genetics (STAR-G) Project provides parents information about what newborn screening is, how it’s done, and disorder fact sheets about newborn disorders and conditions.
• Baby's First Test provides a list of all the conditions a newborn baby may be screened for shortly after birth, as a part of a state’s newborn screening program.
• March of Dimes: Newborn Screening provides descriptions of each newborn condition, why newborn screenings are done, and what the screening results mean.
• NewSTEPs: A Program of the Association of Public Health Laboratories provides general information about newborn screening, prenatal considerations and state newborn screening programs.

Newborn Screening Resources in North Carolina

• North Carolina Newborn Metabolic Screening Program
• North Carolina Sickle Cell Syndrome Program
• North Carolina State Laboratory of Public Health: Newborn Screening
• Baby's First Test provides a list of all the conditions a newborn baby may be screened for shortly after birth, as a part of a state’s newborn screening program.

Information about Newborn Screening Conditions

Parents and families can access information about newborn screening disorders at March of Dimes: Newborn Screening.

Disorders include: Organic Acid Metabolism Disorders (babies with these problems don’t metabolize food correctly), Fatty Acid Oxidation Disorders (babies with these problems can’t change fat into energy), Amino Acid Metabolism Disorders (babies with these problems can’t process amino acids in the body), Hemoglobin Disorders (disorders that affect red blood cells in the body, and other disorders).

Newborn Screening Resources in North Carolina

• North Carolina Newborn Metabolic Screening Program
• North Carolina Sickle Cell Syndrome Program
• North Carolina State Laboratory of Public Health: Newborn Screening
• Baby's First Test provides a list of all the conditions a newborn baby may be screened for shortly after birth, as a part of a state’s newborn screening program.

Health care providers can access The American College of Medical Genetics and Genomics (ACMG) ACT Sheets for each of the disorders listed below. The ACMG ACT sheets and their accompanying algorithms are great resources for clinicians looking for information on genetic conditions (identified through newborn screening and other screenings) to help inform clinical decision making.

Amino Acid Metabolism Disorders

• Argininosuccinic Aciduria (ASA)
• Citrullinemia (CIT)
• Homocystinuria (Hcys)
• Maple Syrup Urine Disease (MSUD)
• Phenylketonuria (PKU)
• Tyrosinemia II
• Tyrosinemia III

Organic Acid Metabolism Disorders

• Glutaric Acidemia Type I (GA-I)
• Holocarboxylase Synthase Deficiency
• 3-Hydroxy-3-Methylglutaryl-CoA Lyase Deficiency (HMG)
• Isobutyryl-CoA Dehydrogenase Deficiency (HMG)
• Isovaleric Acidemia (IVA)
• Beta-Ketothiolase (BKT)/Short Chain Keto Acyl Thiolase (SKAT) Deficiency
• Methylmalonic Aciduria (MMA)
• 2-Methylbutyryl-CoA Dehydrogenase Deficiency (2-MBDD)
• 3-Methylcrotonyl-CoA Carboxylase Deficiency (3-MCC)
• Propionic Acidemia (PPA)

Fatty Acid Oxidation Disorders

• Carnitine/Acylcarnitine Translocase Deficiency (CAT)
• Carnitine Palmitoyltransferase II Deficiency (CAT)
• Medium-Chain Acyl-CoA dehydrogenanse Deficiency (MCADD)
• Multiple Acyl-CoA Dehydrogenase Deficiency (GA-11)
• Long-Chain 3-hydroxyacyl-CoA Dehydrogenase Deficiency (LCHADD)
• Short-Chain Acyl-CoA Dehydrogenase Deficiency (SCADD)
• Trifunctional Protein Deficiency (TFPD)
• Very Long-Chain Acyl-CoA Dehydrogenase Deficiency (VLCADD)

Hemoglobin Disorders

• Alpha Thalassemia
• Hemoglobin C Disease (FC)
• Hemoglobin E Disease (FE)
• Sickle Cell Disease (FS)
• Sickle/Hemoglobin C Disease (FSC)
• Sickle/Hemoglobin E Disease (FSE)
  • N.C. Sickle Cell Syndrome Program: Newborn Screening
  • U.S. National Library of Medicine: Genetics Home Reference: Sickle Cell Disease

Other Disorders

• Biotinidase Deficiency
• Congenital Adrenal Hyperplasia (CAH)
• Cystic Fibrosis
• Galactosemia (Galactose-1 phosphate uridyl transferase deficiency
• Hypothyroidism (primary)

Listed below in alphabetical order are the names of common genetic conditions and links to educational information for teachers, educators and families.

Down Syndrome (DS)

Down syndrome (DS) or Down's syndrome, is a chromosomal condition that is associated with intellectual disability, a characteristic facial appearance and weak muscle tone in infants.

National Down Syndrome Society

Fragile X Syndrome (FXS)

Fragile X syndrome (FXS) is a genetic condition that causes a range of developmental problems including learning disabilities and cognitive impairment.

National Fragile X Foundation

Neurofibromatosis

Neurofibromatosis type 1 is a condition characterized by changes in skin coloring (pigmentation) and the growth of tumors along nerves in the skin, brain, and other parts of the body. Neurofibromatosis type 2 is a disorder characterized by the growth of noncancerous tumors in the nervous system. All are genetic conditions that cause tumors to form on nerves.

Children's Tumor Foundation

Prader Willi Syndrome (PWS)

Prader-Willi syndrome (PWS) is a complex genetic condition that affects many parts of the body. In infancy, this condition is characterized by weak muscle tone (hypotonia), feeding difficulties, poor growth and delayed development. Beginning in childhood, affected individuals develop an insatiable appetite, which leads to chronic overeating (hyperphagia) and obesity. Some people with Prader-Willi syndrome, particularly those with obesity, also develop type 2 diabetes mellitus.

Prader-Willi Syndrome Association

Syndromes with Nonverbal Learning Disability (NLD or NVLD)

A nonverbal learning disorder or nonverbal learning disability (NLD or NVLD) is a neurological disorder characterized by a significant discrepancy between higher verbal skills and lower motor, and by visuospatial skills on an IQ test.

Learning Disabilities Association of America

Turner Syndrome (TS)

Turner syndrome is a chromosomal condition that affects development in females. The most common feature of Turner syndrome is short stature, which becomes evident by about age five.

Website for Educators about Turner Syndrome

Williams Syndrome (WS)

Williams syndrome (WS) is a developmental disorder that affects many parts of the body. This condition is characterized by mild to moderate intellectual disability or learning problems, unique personality characteristics, distinctive facial features and heart and blood vessel (cardiovascular) problems.

Williams Syndrome Association

22q11.2 Deletion Syndrome

22q11.2 deletion syndrome is a chromosome micro deletion condition in which a small piece of chromosome 22 is missing. It causes over 120 different possible symptoms, including normal intelligence to moderate intellectual disability. People with 22q11.2 deletion syndrome often experience recurrent infections caused by problems with the immune system and some develop autoimmune disorders such as rheumatoid arthritis and Graves disease, in which the immune system attacks the body's own tissues and organs. Affected individuals may also have breathing problems, kidney abnormalities, low levels of calcium in the blood (which can result in seizures), a decrease in blood platelets (thrombocytopenia), significant feeding difficulties, gastrointestinal problems, hearing loss and varying behavioral and psychiatric disorders.

22q Family Foundation

Listed below in alphabetical order are the names of some of the more common genetic conditions and syndromes. Links to medical management guidelines and other syndrome specific resources are listed under each name, which may be helpful for educators, teachers, and health care providers.

Achondroplasia (ACH)

Achondroplasia (ACH) is a form of short-limbed dwarfism. All people with achondroplasia have short stature.

Health Supervision Guidelines for Children with Achondroplasia

Cystic Fibrosis (CF)

Cystic fibrosis (CF) is an inherited disease characterized by the buildup of thick, sticky mucus that can damage many of the body’s organs in the respiratory and digestive systems.

Cystic Fibrosis Foundation Evidence-Based Guidelines for Management of Infants with Cystic Fibrosis

Down Syndrome (DS)

Down syndrome (DS) or Down's syndrome, is a chromosomal condition that is associated with cognitive impairment, a characteristic facial appearance and weak muscle tone in infants.

Health Supervision Guidelines for Children with Down Syndrome

Duchenne Muscular Dystrophy (DMD)

Duchenne muscular dystrophy (DMD) is a genetic condition characterized by progressive muscle weakness and wasting (atrophy). In boys with Duchenne muscular dystrophy, muscle weakness tends to appear in early childhood and worsens rapidly. Affected children may have delayed motor skills, such as sitting, standing, and walking.

Standards of Care for Duchenne Muscular Dystrophy

Ehlers-Danlos Syndrome (EDS)

Ehlers-Danlos syndrome (EDS) is a group of disorders that affect connective tissues, which are tissues that support the skin, bones, blood vessels and other organs. Many people with Ehlers-Danlos syndrome have soft, velvety skin that is highly elastic (stretchy) and fragile. Affected individuals tend to bruise easily, and some types of the condition also cause abnormal scarring.

Ehlers-Danlos Medical Guide

Fragile X Syndrome (FXS)

Fragile X syndrome (FXS) is a genetic condition that causes a range of developmental problems including learning disabilities and cognitive impairment.

Health Supervision Guidelines for Children with Fragile X Syndrome

Marfan Syndrome

Marfan syndrome is a hereditary disorder that affects the connective tissue in many parts of the body. The two primary features of Marfan syndrome are vision problems caused by a dislocated lens (ectopia lentis) in one or both eyes and defects in the large blood vessel that distributes blood from the heart to the rest of the body (the aorta).

Health Supervision Guidelines for Children with Marfan Syndrome

Neurofibromatosis (NF Type 1 [NF1], and NF Type 2 [NF2])

Neurofibromatosis type 1 is a condition characterized by changes in skin coloring (pigmentation) and the growth of tumors along nerves in the skin, brain, and other parts of the body. Neurofibromatosis type 2 is a disorder characterized by the growth of noncancerous tumors in the nervous system. All are genetic conditions that cause tumors to form on nerves.

Health Supervision Guidelines for Children with Neurofibromatosis

Prader Willi Syndrome (PWS)

Prader-Willi syndrome (PWS) is a complex genetic condition that affects many parts of the body. In infancy, this condition is characterized by weak muscle tone (hypotonia), feeding difficulties, poor growth and delayed development. Beginning in childhood, affected individuals develop an insatiable appetite, which leads to chronic overeating (hyperphagia) and obesity. Some people with Prader-Willi syndrome, particularly those with obesity, also develop type 2 diabetes mellitus.

Health Supervision for Children with Prader-Willi syndrome

Sickle Cell Disease (SCD)

Sickle cell disease is a group of disorders that affects hemoglobin, the molecule in red blood cells that delivers oxygen to cells throughout the body. People with this disorder have atypical hemoglobin molecules called hemoglobin S, which can distort red blood cells into a sickle, or crescent shape.

Evidence-Based Management of Sickle Cell Disease: Expert Panel Report, 2014

Syndromes with Nonverbal Learning Disability (NLD or NVLD)

A nonverbal learning disorder or nonverbal learning disability (NLD or NVLD) is a neurological disorder characterized by a significant discrepancy between higher verbal skills and lower motor, and by visuo-spatial skills on an IQ test.

Learning Disabilities, Dyslexia, and Vision (AAP Technical Report and Policy Statement)

Turner Syndrome

Turner syndrome is a chromosomal condition that affects development in females. The most common feature of Turner syndrome is short stature, which becomes evident by about age five.

Turner Syndrome: Diagnosis and Management

Williams Syndrome (WS)

Williams syndrome (WS) is a developmental disorder that affects many parts of the body. This condition is characterized by mild to moderate intellectual disability or learning problems, unique personality characteristics, distinctive facial features and heart and blood vessel (cardiovascular) problems.

Health Care Supervision for Children with Williams Syndrome

22q11.2 Deletion Syndrome

22q11.2 deletion syndrome is a chromosome micro deletion condition in which a small piece of chromosome 22 is missing. It causes over 120 different possible symptoms, including normal intelligence to moderate intellectual disability. People with 22q11.2 deletion syndrome often experience recurrent infections caused by problems with the immune system and some develop autoimmune disorders such as rheumatoid arthritis and Graves disease, in which the immune system attacks the body's own tissues and organs. Affected individuals may also have breathing problems, kidney abnormalities, low levels of calcium in the blood (which can result in seizures), a decrease in blood platelets (thrombocytopenia), significant feeding difficulties, gastrointestinal problems, hearing loss and varying behavioral and psychiatric disorders.

Practical Guidelines for Managing Patients with 22q11.2 Deletion Syndrome

• Scholarships are offered at some camps. For the most current camp information, please consult the camp's website or contact person.
• The camp information provided below is intended only as a resource list for families; it is not an endorsement by the Division of Public Health.

Camps for Children with Developmental Disabilities

Camps for Children with Chronic Medical Conditions

Camps for Deaf or Hard-of-Hearing Children

Links to Out-Of-State Camps