Achondroplasia

​Alagille

​Beckwith Wiedeman Syndrome

CHARGE Syndrome

Cornelia de Lange Syndrome

Cri-du-chat Syndrome

Down Syndrome

Ehlers-Danlos Syndrome

Fragile X Syndrome

​Galactosemia

Gaucher Condition

​Gorlin Syndrome

​Glucose-6-phosphate dehydrogenase deficiency

Glycogen Storage Disorder:

• Glycogen Storage Disorder Type 0
• Glycogen Storage Disorder Type I
• Glycogen Storage Disorder Type II
• Glycogen Storage Disorder Type III
• Glycogen Storage Disorder Type IV
• Glycogen Storage Disorder Type V
• Glycogen Storage Disorder Type VI
• Glycogen Storage Disorder Type IX

​Kabuki Syndrome

​Klinefelter Syndrome

​Neurofibromatosis Type 1 – NF1

​Neurofibromatosis Type 2 – NF1

​Marfan Syndrome

​Mitochondrial Disorders

Morquio Syndrome

Oral-facial-digital Syndrome

Pallister – Killian Mosaic

Phenylketonuria (PKU)

Prader-Willi Syndrome

Rett Syndrome

Russell – Silver

Shprintzen-Goldberg Syndrome

Smith-Magenis Syndrome

Sotos Syndrome

Tuberous Sclerosis

Williams Syndrome

Von Hippel-Lindau Syndrome

Deletion 4p Syndrome (Wolf-Hirschhorn Syndrome)

​Epidermolysis Bullosa Simplex

​Incontinenetia Pigmenti

​18q Deletion Syndrome

22q11.2 Deletion Syndrome

Osteogenesis Imperfecta

Triple X syndrome

Trisomy 8 partial

Trisomy 13

​Trisomy 18

Turner Syndrome

​​Apert Syndrome

Crouzon Syndrome

​Pfeiffer Syndrome

​Becker & Duchenne Muscular Dystrophy

​Congenital Muscular Dystrophy :