Genetic Disorders: Recognition and (Yes!) Therapy

By Golder N. Wilson, MD, PhD
Texas Tech University Health Sciences Center | June 24, 2011

Dr Wilson is clinical professor of pediatrics at Texas Tech University Health Sciences Center in Amarillo and a private practitioner at KinderGenome Pediatric Genetics in Dallas. He is also a member of the editorial board of Consultant For Pediatricians.

I am happy to introduce this special supplement to Consultant for Pediatricians that highlights a new era of therapy for genetic disease. The cases here set the stage for a brief discussion of triage and testing, and for an update on management of genetic disorders—from prevention of complications to real therapy through tissue/enzyme replacement.

Your role as pediatrician is pivotal for early recognition and referral of patients with genetic disease and it is key to optimizing child development and later reproduction.^1-3

Case A is a term newborn with hypertonia and several anomalies, including cleft lip/palate, bilateral postaxial polydactyly, and penile chordee. His family and gestational histories are unremarkable.

Case B is a 6-year-old boy with absent speech, connective tissue laxity, and autistic behavior. His mother has learning disabilities and a maternal uncle is said to have mental retardation.

Case C shows the pedigree of a newborn who appeared normal at birth. She deteriorated on day 2 of life (laboratory test values are shown). A sibling also died in the newborn period.

Do you recognize these disorders? (Diagnoses appear on the next page.)

Pages: 1 2

Related articles that focus on Genetic Disorders:

Genetic Disorders: Recognition and (Yes!) Therapy

Child With Unusual Appearance, Inguinal Hernia, Accelerated Growth, and Developmental Delay

Vaccinations: Immunizations Do Not Cause Autism Spectrum Disorder . . . They Prevent Disease

INDEX

• Abdominal Muscle Deficiency Syndrome
• Branchio-Oto-Renal syndrome
• Cerebral Gigantism
• Cerebral Palsy
• Chronic Granulomatous Disease
• Duchenne Muscular Dystrophy
• Eagle-Barrett Syndrome
• Fetal Alcohol Syndrome (1) (2)
• Fibrodysplasia Ossificans Progressiva
• Fragile X Syndrome (1) (2) (3)
• Hunter Syndrome
• Iliac Horn Syndrome
• Juvenile Hemochromatosis
• Klippel-Trenaunay Syndrome
• LEOPARD Syndrome
• Mowat-Wilson Syndrome
• Onycho-Osteodysplasia
• Organic Acidemia
• Prune Belly Syndrome
• Russel Silver Syndrome
• Sotos Syndrome
• Triad Syndrome
• Trisomy 13
• Turner-Keiser Syndrome
• Williams Syndrome

TOPIC INDEX

• ADHD
• Allergy
• Asthma
• Atopic Dermatitis
• Autism
• Bacterial Conjunctivitis
• Developmental/Genetic Disorders
• Epilepsy
• Failure to Thrive
• Food Allergies
• GI Disorders
• Lice Treatments
• Obesity
• Respiratory Tract Diseases
• Sexually Transmitted Infections
• Skin Diseases
• Vaccines
• Vitamin D Insufficiency

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Genetic Disorders: Recognition and (Yes!) Therapy

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