Pediatric achondroplasia (dwarfism), Hypohidrotic ectodermal dysplasia, Pediatric Marfan syndrome (MFS), McCune-Albright syndrome (MAS), Pediatric metabolic diseases, Congenital chromosomal anomalies, Down syndrome in children, Treacher Collins syndrome, Yunis-Varon syndrome, Developmental delays in children, Pediatric autism spectrum disorder (ASD), Fragile X syndrome (FXS) in children, Rett syndrome in children, Pediatric Ehlers-Danlos syndrome (EDS or elastic skin), Pediatric short stature, Klinefelter syndrome (KS), Pediatric and adolescent Turner syndrome (TS), Congenital Anomalies, Chromosome Deletion, Chromosome Duplication, Chromosome Rearrangement Syndromes, Connective Tissue Disorders, Hearing Loss, Parents Who Are Related to Each Other, Positive Genetic Screening Tests (Carrier, Prenatal and Newborn), Unexplained Episodic Illnesses, Unusual Physical Features With Poor Growth and Development, Unexplained Intellectual Disability, Vision Loss

The genetic specialists at Children’s Health have extensive clinical experience with how diseases, birth defects, or other health problems are inherited through the genes.