Pediatrics: Genetics and Metabolic Disease Articles
- Achondrogenesis
- Aicardi Syndrome
- Alkaptonuria (Black Urine Disease)
- Apert Syndrome
- Argininosuccinate Lyase (ASL) Deficiency
- Arthrogryposis
- Carbamoyl Phosphate Synthetase (CPS) Deficiency
- Cerebrotendinous Xanthomatosis
- CHARGE Syndrome
- Chromosomal Breakage Syndromes
- Cornelia De Lange Syndrome
- Cri-du-chat Syndrome
- Danon Disease
- Down Syndrome
- Ellis-van Creveld Syndrome
- Fragile X Syndrome
- Genetics of Achondroplasia
- Genetics of Asphyxiating Thoracic Dystrophy (Jeune Syndrome)
- Genetics of Cockayne Syndrome
- Genetics of Crouzon Syndrome
- Genetics of Ehlers-Danlos Syndrome
- Genetics of Fabry Disease
- Genetics of Klippel-Trenaunay-Weber Syndrome
- Genetics of Marfan Syndrome
- Genetics of Nail-Patella Syndrome
- Genetics of Neurofibromatosis Type 1 and Type 2
- Genetics of Osteogenesis Imperfecta
- Genetics of Proteus Syndrome
- Genetics of Rubinstein-Taybi Syndrome
- Genetics of Sjogren-Larsson Syndrome
- Genetics of Tuberous Sclerosis
- Genetics of von Gierke Disease (Glycogen-Storage Disease Type 1)
- Genetics of Waardenburg Syndrome
- Glycogen-Storage Disease Type 0 (GSD-0) (Glycogen Synthetase Deficiency)
- Hereditary Fructose Intolerance (HFI) (Fructose 1-Phosphate Aldolase Deficiency)
- Holoprosencephaly
- Hunter Syndrome (Mucopolysaccharidosis Type II)
- Inclusion-Cell (I-Cell) Disease (Mucolipidosis Type II)
- Kearns-Sayre Syndrome
- Klinefelter Syndrome
- Macrocephaly
- Maroteaux-Lamy Syndrome (Mucopolysaccharidosis Type VI)
- Medium-Chain Acyl-CoA Dehydrogenase (MCAD) Deficiency (MCADD)
- Microcephaly
- Mandibulofacial Dysostosis (Treacher Collins Syndrome)
- Meckel-Gruber Syndrome
- Morquio Syndrome (Mucopolysaccharidosis Type IV)
- Noonan Syndrome
- Ornithine Transcarbamylase (OTC) Deficiency
- Patau Syndrome
- Phenylketonuria (PKU)
- Prader-Willi Syndrome
- Sanfilippo Syndrome (Mucopolysaccharidosis Type III)
- Silver-Russell Syndrome
- Sitosterolemia (Phytosterolemia)
- Skeletal Dysplasia
- Sly Syndrome (Mucopolysaccharidosis Type VII)
- Smith-Lemli-Opitz Syndrome
- Sphingomyelinase Deficiency
- Thanatophoric Dysplasia
- Trisomy 18
- Turner Syndrome
- van der Woude Syndrome
- Wolf-Hirschhorn Syndrome
Chief Editor
- Maria Descartes, MD
- Luis O Rohena, MD