5-Minute Pediatric Consult
- 22q11.2 deletion syndrome
- 22 tetrasomy syndrome
- 4p syndrome (Wolf-Hirschhorn syndrome; deletion 4p; monosomy 4p)
- Aarskog syndrome
- Achondrogenesis type I
- Achondroplasia
- Acidotic newborns, metabolic diseases in
- Acrodermatitis enteropathica
- Acute intermittent porphyria
- Adrenoleukodystrophy
- Agenesis of corpus callosum
- Aicardi syndrome
- Alagille syndrome (arteriohepatic dysplasia)
- Albright syndrome
- Alexander disease
- Alopecia areata
- Alport syndrome
- Andersen disease
- Androgen insensitivity
- Angelman syndrome
- α1-antitrypsin deficiency
- Apert syndrome
- Aplasia cutis congenita (nonsyndromic)
- Arthrogryposis multiplex congenita
- Ataxia telangiectasia syndrome (Louis-Bar)
- Axenfeld-Rieger syndrome
- Bardet-Biedl syndrome
- Barth syndrome
- Bart syndrome
- Bartter syndrome
- Basal cell nevus syndrome
- Becker muscular dystrophy
- Beckwith-Wiedemann syndrome
- Behçet syndrome
- Bloch-Sulzberger syndrome
- Bloom syndrome
- Blue diaper syndrome
- Bourneville disease, Bourneville–Pringle disease
- Branchio-Oto-Renal syndrome
- Byler disease
- Caffey disease
- Campomelic dysplasia
- Canavan disease
- Caroli disease
- Cat eye syndrome (22 Tetrasomy syndrome)
- Charcot-Marie-Tooth disease (hereditary motor and sensory neuropathy [HMSN] or peroneal muscular atrophy)
- CHARGE syndrome
- Chédiak-Higashi syndrome
- Chondrodysplasia punctata 2, X-linked dominant
- Ciliary dyskinesia
- Cockayne syndrome
- Coffin-Lowry syndrome
- Cohen
- Cole-Carpenter syndrome
- Congenital adrenal hyperplasia
- Congenital amegakaryocytic thrombocytopenia
- Congenital disorders of glycosylation
- Congenital hypothyroidism
- Congenital insensitivity to pain
- Congenital rubella syndrome
- Conradi-Hünermann syndrome
- Cornelia de Lange syndrome (Brachmann-De Lange syndrome, de Lange syndrome)
- Costello syndrome
- Crigler-Najjar syndrome, types I and II
- Crouzon syndrome (craniofacial dysostosis)
- Cyclic neutropenia
- Cystic fibrosis
- Cystinosis
- Cystinuria
- Dent syndrome
- De Sanctis-Cacchione syndrome
- Diamond-Blackfan syndrome
- DiGeorge syndrome
- Down syndrome
- Dubin-Johnson Syndrome
- Dubowitz syndrome
- Duchenne muscular dystrophy
- Dyskeratosis congenita
- Eagle-Barrett syndrome
- Ectodermal dysplasia
- Ectrodactyly-ectodermal dysplasia-clefting syndrome
- Edwards syndrome
- Ehlers-Danlos syndrome
- Epidermolysis bullosa
- Epidermolysis bullosa dystrophica, autosomal dominant
- Fabry disease
- Familial adenomatous polyposis
- Familial dysautonomia (hereditary sensory and autonomic neuropathy)
- Familial Mediterranean fever
- Fanconi anemia
- Farber lipogranulomatosis
- Fetal alcohol spectrum disorder (FASD)
- Fetal alcohol syndrome
- Fetal brain disruption sequence
- Fetal hydantoin syndrome
- Fetal rubella syndrome
- Fetal valproate syndrome
- Fetal warfarin syndrome
- Fibrodysplasia ossificans progressiva (FOP)
- Five-alpha reductase deficiency
- Focal dermal hypoplasia
- Fragile XE syndrome
- Fragile X syndrome
- Friedreich ataxia
- Fukuyama muscular dystrophy
- Galactosemia
- Gardner syndrome
- Gaucher disease
- Gilbert syndrome
- Gilles de la Tourette syndrome
- Glanzmann thrombasthenia
- Glucose-6-phosphate dehydrogenase deficiency or G6PD deficiency
- Glutauric aciduria I
- Glycine encephalopathy
- Glycogen storage disease 1A (GSD1A; von Gierke)
- Glycogen storage disease IV (GSD4; Andersen disease)
- GM1 gangliosidosis
- Goldenhar syndrome
- Goltz syndrome
- Gorlin syndrome
- Hallerman-Streif syndrome
- Hartnup disorder
- Hemochromatosis
- Hemophilia
- Hereditary angioedema
- Hereditary fructose intolerance
- Hereditary spherocytosis
- Hermanski-Pudlak syndrome
- Holt-Oram syndrome
- Homocystinuria
- Hunter syndrome
- Huntington disease
- Hurler syndrome
- Hutchinson-Gilford progeria syndrome
- Hyperammonemic newborns, metabolic diseases in
- Hyperekplexia
- Hyperimmunoglobulinemia E syndrome
- Hyperinsulinism
- Hypoglycemic newborns, metabolic diseases in
- Hypogonadotropic hypogonadism with or without anosmia
- Hypophosphatasia
- Hypothyroidism, congenital
- Ichthyosis
- Immune deficiency
- Immune dysregulation, polyendocrinopathy, enteropathy X-linked syndrome (IPEX)
- Incontinentia pigmenti (IP)
- Infantile cortical hyperostosis
- Jansen metaphyseal chondrodysplasia
- Job syndrome
- Johanson-Blizzard syndrome
- Kabuki syndrome
- Kallmann syndrome
- Kartagener syndrome
- Kleine-Levin hibernation syndrome
- Klinefelter syndrome
- Klippel-Feil anomaly
- Krabbe leukodystrophy
- L1CAM/X-linked hydrocephalus
- Larsen syndrome
- Laurence-Moon-Biedl syndrome
- Leber hereditary optic neuropathy
- LEOPARD syndrome (Noonan syndrome with multiple lentigines)
- Lesch-Nyhan syndrome
- Letterer-Siwe disease
- Li-Fraumeni syndrome
- Loeys-Dietz syndrome
- Long QT interval
- Louis-Bar syndrome
- Lowe oculocerebrorenal syndrome
- Lymphedema-distichiasis syndrome
- Lysosomal acid lipase deficiency (Wolman disease)
- Maffucci syndrome
- Malignant hyperthermia, susceptibility to
- Mandibulofacial syndrome
- Marfan syndrome
- Maternal phenylketonuria (PKU) effects
- McCune-Albright syndrome
- Meckel-Gruber syndrome
- Medium-chain acyl-CoA dehydrogenase (MCAD) deficiency
- Meige disease
- MELAS syndrome
- Menkes disease (kinky hair disease)
- Metabolic diseases in acidotic newborns
- Metabolic diseases in hyperammonemic newborns
- Metabolic diseases in hypoglycemic newborns
- Metachromatic leukodystrophy
- Miller-Dieker syndrome
- Milroy disease
- Mismatch repair cancer syndrome
- Möbius (or Moebius) syndrome
- Monilethrix
- Morquio syndrome
- Mucopolysaccharidosis I (Hurler, Scheie)
- Mucopolysaccharidosis II (Hunter syndrome)
- Mucopolysaccharidosis III (Sanfilippo syndrome)
- Mucopolysaccharidosis IV (Morquio syndrome)
- Multiple enchondromatosis, Maffucci type
- Multiple endocrine neoplasia type I
- Multiple endocrine neoplasia types 2A, 2B
- Multiple epiphyseal dysplasia
- Multiple exostoses, type I
- Multiple hereditary exostosis
- Muscle-eye-brain disease
- Muscular dystrophies
- Muscular dystrophy-dystroglycanopathy with brain and eye anomalies
- Myelofibrosis
- Myotonic dystrophy
- Nail-patella syndrome
- Nephronophthisis
- Netherton syndrome
- Neurofibromatosis I
- Neurofibromatosis II
- Niemann-Pick type C
- Niemann-Pick types A and B
- Nonketotic hyperglycinemia
- Noonan syndrome
- Norrie disease
- Oculo-auriculo-vertebral spectrum (OAV, hemifacial microsomia, Goldenhar)
- Oculomandibulofacial syndrome
- Omenn syndrome
- Omphalocele-exstrophy-imperforate anus-spina bifida (OEIS)
- Opitz syndrome
- Orofacialdigital syndrome type I
- Osler-Weber-Rendu syndrome (hereditary hemorrhagic telangiectasia)
- Osteogenesis imperfecta
- Osteopetrosis
- Paroxysmal nocturnal hemoglobinuria
- Patau syndrome
- Pearson syndrome
- Pelizaeus-Merzbacher disease
- Pendred syndrome
- Peutz-Jeghers syndrome
- Pfeiffer syndrome
- PFIC
- PHACES association
- Phenylketonuria
- PHP1A
- Pierre Robin sequence
- Poland anomaly
- Polycystic kidney disease
- Pompe disease
- Porphyrias
- Prader-Willi syndrome
- Primary ciliary dyskinesia
- Progeria syndrome
- Progressive familial intrahepatic cholestasis (PFIC) (Byler disease)
- Proximal focal femoral deficiency
- Prune belly sequence
- Pseudohypoparathyroidism IA
- PTEN macrocephaly/autism
- RASA1 syndromes
- 5α-reductase deficiency
- Retinitis pigmentosa
- Rett syndrome
- Rieger syndrome
- Riley-Day syndrome
- Rotor syndrome
- Rubinstein-Taybi syndrome
- Russell-Silver syndrome
- Sandhoff Disease (GM2-gangliosidosis type II)
- Sanfilippo syndrome, types A, B, C, and D
- Scheie syndrome
- Seckel syndrome
- Short-rib thoracic dysplasia (with or without polydactyly)
- Shwachman-Diamond syndrome
- Sickle cell
- Smith-Lemli-Opitz syndrome
- Sotos syndrome (cerebral gigantism)
- Spinal cerebellar ataxia
- Spinal muscular atrophy
- Spondyloepiphyseal dysplasia
- Stargardt disease
- Stickler syndrome
- Stiff man syndrome
- Stiff skin syndrome
- Sturge-Weber syndrome
- Tay-Sachs disease (GM2-gangliosidosis type I)
- Testicular regression syndrome
- Tetrasomy 22
- Thalassemia (includes β-thalassemia)
- Thanatophoric dysplasia
- Thrombocytopenia-absent radius (TAR)
- Tourette syndrome
- Townes-Brock syndrome
- Treacher Collins syndrome
- Trichorhinophalangeal
- Triploidy
- Trisomy 13 (Patau syndrome)
- Trisomy 18 (Edwards syndrome)
- Trisomy 21 (Down Syndrome)
- Tuberous sclerosis (Bourneville disease, Bourneville-Pringle disease)
- Turcot syndrome
- Turner syndrome (monosomy X)
- Tyrosinemia
- Usher syndrome
- VACTERL association
- van der Woude syndrome
- Vanishing testes syndrome
- von Gierke disease
- von Hippel–Lindau disease
- von Willebrand
- Waardenburg syndrome
- WAGR (Wilms tumor, Aniridia, Genitourinary anomalies, and mental Retardation)
- Walker-Warburg syndrome
- Wegener granulomatosis
- Werner syndrome
- Williams syndrome
- Wilson disease
- Wiskott-Aldrich syndrome
- Wolff-Parkinson-White syndrome
- Wolman disease
- Xeroderma pigmentosum
- Zellweger syndrome (cerebrohepatorenal syndrome; peroxisome biogenesis disorder 1A)