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21-hydroxylase deficiency
47 X-X-Y syndrome
5p minus syndrome
Aarskog syndrome
Aase syndrome
Aase-Smith syndrome
Achondrogenesis
Achondroplasia
Acquired bronchiectasis
Acquired growth hormone deficiency
Adrenogenital syndrome
Adrenoleukodystrophy
Adrenoleukodystrophy
Adrenomyeloneuropathy
Aicardi syndrome
ALD
Alpha-L-iduronate deficiency
Alport syndrome
Alström syndrome
Amelogenesis imperfecta
Anencephaly
Antithrombin III deficiency - congenital
Aortic coarctation
Aprosencephaly with open cranium
ASD
Atrial septal defect
Bartter syndrome
Beckwith-Wiedemann syndrome
Bernard-Soulier syndrome
Birth-acquired herpes
Bonnevie-Ullrich syndrome
Brittle bone disease
Bronchiectasis
Cat cry syndrome
CDH
Chediak-Higashi syndrome
Childhood cerebral adrenoleukodystrophy
Choanal atresia
Chromosome 5p deletion syndrome
Cleft lip and palate
Cleft palate
Cleft spine
Cleidocranial dysostosis
CMV - congenital
Coarctation of the aorta
Congenital adrenal hyperplasia
Congenital afibrinogenemia
Congenital antithrombin III deficiency
Congenital bronchiectasis
Congenital CMV
Congenital cranial osteoporosis
Congenital cytomegalovirus
Congenital dislocation of the hip
Congenital dysplasia of the hip
Congenital growth hormone deficiency
Congenital heart disease
Congenital hernia of the diaphragm
Congenital herpes
Congenital hypertrophic pyloric stenosis
Congenital hypothyroidism
Congenital lues
Congenital megacolon
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
Craniofacial defect
Craniosynostosis
Craniotabes
Cretinism
Cri du chat syndrome
Cyanotic heart disease
Cytomegalovirus - congenital
DDH
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
DSDs
Dystrophic epidermolysis bullosa
Eagle-Barrett syndrome
Edwards syndrome
Epidermolysis bullosa
Epispadias
Facial-digital-genital syndrome
Familial dysautonomia
Fanconi syndrome
Fetal syphilis
Fructose 1, 6 bisphosphate aldolase deficiency
Fructose aldolase B-deficiency
Fructose intolerance
Fructosemia
Gastric outlet obstruction
Gaucher disease
Glanzmann's thrombasthenia
Glucocerebrosidase deficiency
Glucosylceramidase deficiency
Gonadal dysgenesis
Growth hormone deficiency - children
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 (HSAN III)
Hereditary spherocytosis
Hermaphrodite
Hermaphroditism
Hernia - diaphragmatic
Hernia - hiatal
Herpes - congenital
HGPS
Hiatal hernia
Hirschsprung’s disease
HLHS
Horner syndrome
HSV
Hunter syndrome
Hurler syndrome
Hutchinson-Gilford progeria syndrome
Hypertrophic pyloric stenosis
Hypoplastic anemia/Triphalangeal thumb syndrome
Hypoplastic left heart syndrome
Hypothyroidism - infants
Inborn errors of metabolism
Intersex
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
Metabolism - inborn errors of
Methylmalonic acidemia
Monosomy X
MPS I H
MPS III
Mucopolysaccharidosis type I
Mucopolysaccharidosis type II, Iduronate sulfatase deficiency
Multiple lentigines syndrome
Myelomeningocele
Neonatal hypothyroidism
Neonatal phenylketonuria
Nephrotic syndrome - congenital
Noonan syndrome
Obstruction of the ureteropelvic junction
Osteogenesis imperfecta
PA/IVS
Panhypopituitarism
Patau syndrome
Pavlik harness
Pernicious anemia
Phenylketonuria
Pierre Robin anomaly
Pierre Robin complex
Pierre Robin sequence
Pierre Robin syndrome
Pituitary dwarfism
PKU
Platelet function defects - congenital
Platelet storage pool disorder
Potassium wasting
Prader-Willi syndrome
Premature closure of sutures
Progeria
Protein C deficiency
Protein S deficiency
Prune belly syndrome
Pseudohermaphroditism
Pulmonary atresia
Pulmonary atresia - intact ventricular septum
Pyloric stenosis
Recombinant human GH (rhGH)
Rh incompatibility
Rh-induced hemolytic disease of the newborn
Right-to-left cardiac shunt
Right-to-left circulatory shunt
Riley-Day syndrome
Rubinstein syndrome, RTS
Rubinstein-Taybi syndrome
Russell-Silver syndrome
Salt-wasting nephropathy
Sanfilippo syndrome
Schilder-Addison Complex
Silver syndrome
Silver-Russell syndrome
Somatropin
Spherocytosis
Spina bifida
Spinal muscular atrophy
Tay-Sachs disease
Tracheomalacia - congenital
Transient familial hyperbilirubinemia
Triad syndrome
Trisomy 13
Trisomy 18
Turner syndrome
Type 1 tracheomalacia
UP junction obstruction
UPJ obstruction
Ureteropelvic junction obstruction
Urethral obstruction malformation sequence
Ventricular septal defect
Vitamin B12 deficiency (malabsorption)
VSD
Waardenburg syndrome
Waardenburg-Shah syndrome
Weber-Cockayne syndrome
Werdnig-Hoffmann disease
Williams syndrome
Williams-Beuren syndrome
Xeroderma pigmentosa
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