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21-hydroxylase deficiency

47 X-X-Y syndrome

5p minus syndrome

Aarskog syndrome

Aase-Smith syndrome

Achondrogenesis

Acquired bronchiectasis

Adrenogenital syndrome

Adrenoleukodystrophy

Aicardi syndrome

Alpha-L-iduronate deficiency

Alport syndrome

Alström syndrome

Amelogenesis imperfecta

Antithrombin III deficiency - congenital

Aortic coarctation

Aprosencephaly with open cranium

Atresia - pulmonary

Atrial septal defect

Bartter syndrome

Beckwith-Wiedemann syndrome

Bernard-Soulier syndrome

Birth-acquired herpes

Bonnevie-Ullrich syndrome

Brittle bone disease

Cat cry syndrome

Chediak-Higashi syndrome

Choanal atresia

Chromosome 5p deletion syndrome

Cleft lip and palate

Cleidocranial dysostosis

CMV - congenital

Coarctation of the aorta

Congenital adrenal hyperplasia

Congenital afibrinogenemia

Congenital antithrombin III deficiency

Congenital bronchiectasis

Congenital cranial osteoporosis

Congenital cytomegalovirus

Congenital dislocation of the hip

Congenital dysplasia of the hip

Congenital heart disease

Congenital hernia of the diaphragm

Congenital herpes

Congenital hypertrophic pyloric stenosis

Congenital hypothyroidism

Congenital lues

Congenital megacolon

Congenital nephrogenic diabetes insipidus

Congenital nephrotic syndrome

Congenital pernicious anemia

Congenital platelet function defects

Congenital protein C or S deficiency

Congenital rubella

Congenital spherocytic anemia

Congenital syphilis

Congenital toxoplasmosis

Craniosynostosis

Cri du chat syndrome

Cyanotic heart disease

De Toni-Fanconi syndrome

Deficiency - antithrombin III - congenital

Developmental dislocation of the hip joint

Developmental dysplasia of the hip

Developmental hip dysplasia

Diaphragmatic hernia

Disorders of sex development

Dystrophic epidermolysis bullosa

Eagle-Barrett syndrome

Edwards syndrome

Epidermolysis bullosa

Familial dysautonomia

Fanconi syndrome

Fructose 1, 6 bisphosphate aldolase deficiency

Fructose aldolase B-deficiency

Fructose intolerance

Gastric outlet obstruction

Gaucher disease

Glanzmann's thrombasthenia

Glucocerebrosidase deficiency

Glucosylceramidase deficiency

Gonadal dysgenesis

Growth hormone deficiency

Hematuria - nephropathy - deafness

Hemidesmosomal epidermolysis bullosa

Hemorrhagic familial nephritis

Hereditary deafness and nephropathy

Hereditary fructose intolerance

Hereditary nephritis

Hereditary sensory and autonomic neuropathy - type III

Hereditary spherocytosis

Hermaphroditism

Hernia - diaphragmatic

Hernia - hiatal

Herpes - congenital

Hirschsprung’s disease

Horner syndrome

Hunter syndrome

Hurler syndrome

Hutchinson-Gilford syndrome

Hydrops fetalis

Hypertrophic pyloric stenosis

Hypoplastic left heart

Hypoplastic left heart syndrome

Inborn errors of metabolism

Interventricular septal defect

Junctional epidermolysis bullosa

Juvenile pernicious anemia

Klein-Waardenburg syndrome

Klinefelter syndrome

Leopard syndrome

Lesch-Nyhan syndrome

Lucey-Driscol syndrome

Macrocytic achylic anemia

Meckel's diverticulum

Melanodermic leukodystrophy

Metabolism - inborn errors of

Methylmalonic acidemia

Mucopolysaccharidosis type I

Mucopolysaccharidosis type II, Iduronate sulfatase deficiency

Multiple lentigines syndrome

Myelomeningocele (children)

Neonatal adrenoleukodystrophy

Nephrogenic diabetes insipidus - congenital

Nephrotic syndrome - congenital

Noonan syndrome

Obstruction of the ureteropelvic junction

Osteogenesis imperfecta

Panhypopituitarism

Pernicious anemia

Phenylketonuria

Pierre Robin syndrome

Pituitary dwarfism

Platelet function defects - congenital

Potassium wasting

Prader-Willi syndrome

Premature closure of sutures

Prune belly syndrome

Pseudohermaphroditism

Pulmonary atresia

Pyloric stenosis

Rh incompatibility

Rh-induced hemolytic disease of the newborn

Right-to-left cardiac shunt

Right-to-left circulatory shunt

Riley-Day syndrome

Rubinstein syndrome

Rubinstein-Taybi syndrome

Russell-Silver syndrome

Sanfilippo syndrome

Silver syndrome

Silver-Russell syndrome

Spinal muscular atrophy

Storage pool disease

Tay-Sachs disease

Transient familial hyperbilirubinemia

Turner syndrome

UP junction obstruction

UPJ obstruction

Ureteropelvic junction obstruction

Ventricular septal defect

Vitamin B12 deficiency (malabsorption)

Waardenburg syndrome

Waardenburg-Shah syndrome

Weber-Cockayne syndrome

Werdnig-Hoffmann disease

Williams syndrome

Williams-Beuren syndrome

Xeroderma pigmentosa

X-linked adrenoleukodystrophy

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