List of MeSH codes (C16)

– [congenital, hereditary, and neonatal diseases and abnormalities]

– [abnormalities]

– [abnormalities, drug-induced]

– [abnormalities, multiple]

• – Alagille syndrome
• – Angelman syndrome
• – Bardet–Biedl syndrome
• – basal-cell nevus syndrome
• – Beckwith–Wiedemann syndrome
• – Bloom syndrome
• – branchio-oto-renal syndrome
• – Cockayne syndrome
• – cri du chat syndrome
• – De Lange syndrome
• – Down syndrome
• – ectodermal dysplasia
• – Ellis–van Creveld syndrome
• – focal dermal hypoplasia
• – neurocutaneous syndromes
• – Gardner's syndrome
• – holoprosencephaly
• – incontinentia pigmenti
• – Laurence–Moon syndrome
• – Leopard syndrome
• – Marfan syndrome
• – Möbius syndrome
• – nail–patella syndrome
• – oculocerebrorenal syndrome
• – orofaciodigital syndromes
• – POEMS syndrome
• – Prader–Willi syndrome
• – proteus syndrome
• – prune belly syndrome
• – rubella syndrome, congenital
• – Rubinstein–Taybi syndrome
• – Short rib – polydactyly syndrome
• – Smith–Lemli–Opitz syndrome
• – Waardenburg syndrome
• – Wolfram syndrome
• – Zellweger syndrome

  – [abnormalities, radiation-induced]

– [cardiovascular abnormalities]

• – arterio-arterial fistula
• – arteriovenous malformations
• – arteriovenous fistula
• – intracranial arteriovenous malformations
• – central nervous system vascular malformations
• – heart defects, congenital
• – aortic coarctation
• – arrhythmogenic right ventricular dysplasia
• – cor triatriatum
• – coronary vessel anomalies
• – crisscross heart
• – dextrocardia
• – Kartagener syndrome
• – ductus arteriosus, patent
• – Ebstein's anomaly
• – Eisenmenger complex
• – heart septal defects
• – aortopulmonary septal defect
• – endocardial cushion defects
• – heart septal defects, atrial
• – Lutembacher's syndrome
• – Trilogy of Fallot
• – heart septal defects, ventricular
• – hypoplastic left heart syndrome
• – Leopard syndrome
• – levocardia
• – Marfan syndrome
• – Tetralogy of Fallot
• – transposition of great vessels
• – double outlet right ventricle
• – tricuspid atresia
• – truncus arteriosus, persistent
• – pulmonary atresia
• – scimitar syndrome

  – [chromosome disorders]

• – Angelman syndrome
• – Beckwith–Wiedemann syndrome
• – branchio-oto-renal syndrome
• – cri du chat syndrome
• – De Lange syndrome
• – Down syndrome
• – holoprosencephaly
• – Prader–Willi syndrome
• – Rubinstein–Taybi syndrome
• – sex chromosome disorders
• – ectodermal dysplasia
• – focal dermal hypoplasia
• – fragile X syndrome
• – gonadal dysgenesis, 46,xy
• – gonadal dysgenesis, mixed
• – Klinefelter syndrome
• – orofaciodigital syndromes
• – Turner syndrome
• – WAGR syndrome
• – Williams syndrome

  – [DiGeorge syndrome]

– [digestive system abnormalities]

• – anus, imperforate
• – biliary atresia
• – choledochal cyst
• – Caroli disease
• – diaphragmatic eventration
• – esophageal atresia
• – Hirschsprung's disease
• – intestinal atresia
• – Meckel's diverticulum

  – [eye abnormalities]

• – aniridia
• – WAGR syndrome
• – anophthalmos
• – blepharophimosis
• – coloboma
• – ectopia lentis
• – hydrophthalmos
• – microphthalmos
• – retinal dysplasia

  – [lymphatic abnormalities]

• – lymphangiectasis, intestinal

  – [monsters]

• – anencephaly
• – twins, conjoined

  – [musculoskeletal abnormalities]

• – arthrogryposis
• – craniofacial abnormalities
• – cleidocranial dysplasia
• – craniofacial dysostosis
• – Hallermann's syndrome
• – hypertelorism
• – mandibulofacial dysostosis
• – goldenhar syndrome
• – craniosynostoses
• – acrocephalosyndactylia
• – holoprosencephaly
• – Leopard syndrome
• – maxillofacial abnormalities
• – cherubism
• – jaw abnormalities
• – cleft palate
• – micrognathism
• – Pierre Robin syndrome
• – prognathism
• – retrognathism
• – microcephaly
• – Noonan syndrome
• – orofaciodigital syndromes
• – plagiocephaly, nonsynostotic
• – platybasia
• – Rubinstein–Taybi syndrome
• – funnel chest
• – gastroschisis
• – Hajdu–Cheney syndrome
• – hip dislocation, congenital
• – Klippel–Feil syndrome
• – limb deformities, congenital
• – ectromelia
• – foot deformities, congenital
• – hand deformities, congenital
• – lower extremity deformities, congenital
• – polydactyly
• – short rib – polydactyly syndrome
• – proteus syndrome
• – syndactyly
• – acrocephalosyndactylia
• – Poland syndrome
• – thanatophoric dysplasia
• – upper extremity deformities, congenital
• – synostosis
• – craniosynostoses
• – acrocephalosyndactylia
• – syndactyly
• – acrocephalosyndactylia
• – Poland syndrome

  – [nervous system malformations]

• – central nervous system cyst
• – arachnoid cyst
• – central nervous system vascular malformations
• – hemangioma, cavernous, central nervous system
• – central nervous system venous angioma
• – sinus pericranii
• – Dandy–Walker syndrome
• – hereditary motor and sensory neuropathies
• – Charcot–Marie–Tooth disease
• – Refsum disease
• – spastic paraplegia, hereditary
• – hereditary sensory and autonomic neuropathies
• – dysautonomia, familial
• – holoprosencephaly
• – hydranencephaly
• – intracranial arteriovenous malformations
• – neural tube defects
• – anencephaly
• – Arnold–Chiari malformation
• – encephalocele
• – meningocele
• – meningomyelocele
• – spinal dysraphism
• – spina bifida cystica
• – spina bifida occulta
• – septo-optic dysplasia

  – [respiratory system abnormalities]

• – bronchogenic cyst
• – bronchopulmonary sequestration
• – choanal atresia
• – cystic adenomatoid malformation of lung, congenital
• – kartagener syndrome
• – scimitar syndrome
• – tracheobronchomegaly

  – [situs inversus]

• – dextrocardia
• – kartagener syndrome
• – levocardia

  – [skin abnormalities]

• – acrodermatitis
• – dyskeratosis congenita
• – ectodermal dysplasia
• – Ellis–van Creveld syndrome
• – focal dermal hypoplasia
• – neurocutaneous syndromes
• – Ehlers–Danlos syndrome
• – epidermolysis bullosa
• – epidermolysis bullosa acquisita
• – epidermolysis bullosa dystrophica
• – epidermolysis bullosa, junctional
• – epidermolysis bullosa simplex
• – ichthyosis
• – ichthyosiform erythroderma, congenital
• – hyperkeratosis, epidermolytic
• – ichthyosis, lamellar
• – ichthyosis vulgaris
• – ichthyosis, x-linked
• – Sjögren–Larsson syndrome
• – incontinentia pigmenti
• – port-wine stain
• – pseudoxanthoma elasticum
• – Rothmund–Thomson syndrome
• – sclerema neonatorum
• – xeroderma pigmentosum

  – [stomatognathic system abnormalities]

• – maxillofacial abnormalities
• – jaw abnormalities
• – cleft palate
• – micrognathism
• – Pierre Robin syndrome
• – prognathism
• – retrognathism
• – mouth abnormalities
• – cleft lip
• – cleft palate
• – fibromatosis, gingival
• – macrostomia
• – microstomia
• – velopharyngeal insufficiency
• – tooth abnormalities
• – amelogenesis imperfecta
• – dental enamel hypoplasia
• – anodontia
• – dens in dente
• – dentin dysplasia
• – dentinogenesis imperfecta
• – fused teeth
• – odontodysplasia
• – tooth, supernumerary

  – [thyroid dysgenesis]

• – lingual thyroid
• – lingual goiter

  – [urogenital abnormalities]

• – bladder exstrophy
• – cryptorchidism
• – epispadias
• – frasier syndrome
• – hypospadias
• – multicystic dysplastic kidney
• – nephritis, hereditary
• – sex differentiation disorders
• – freemartinism
• – gonadal dysgenesis
• – gonadal dysgenesis, 46,xx
• – gonadal dysgenesis, 46,xy
• – gonadal dysgenesis, mixed
• – turner syndrome
• – hermaphroditism
• – hermaphroditism, true
• – pseudohermaphroditism
• – androgen insensitivity syndrome
• – Denys–Drash syndrome
• – Kallmann syndrome
• – Klinefelter syndrome
• – WAGR syndrome

  – [fetal diseases]

– [chorioamnionitis]

– [erythroblastosis, fetal]

• – hydrops fetalis

  – [fetal alcohol syndrome]

– [fetal hypoxia]

– [fetal growth retardation]

– [fetal macrosomia]

– [meconium aspiration syndrome]

– [genetic diseases, inborn]

– [adrenal hyperplasia, congenital]

– [anemia, hemolytic, congenital]

• – anemia, dyserythropoietic, congenital
• – anemia, hemolytic, congenital nonspherocytic
• – anemia, sickle cell
• – hemoglobin SC disease
• – sickle cell trait
• – elliptocytosis, hereditary
• – glucosephosphate dehydrogenase deficiency
• – favism
• – hemoglobin c disease
• – spherocytosis, hereditary
• – thalassemia
• – alpha-thalassemia
• – beta-thalassemia

  – [anemia, hypoplastic, congenital]

• – anemia, Diamond–Blackfan
• – fanconi anemia

  – [ataxia telangiectasia]

– [blood coagulation disorders, inherited]

• – activated protein C resistance
• – afibrinogenemia
• – antithrombin III deficiency
• – Bernard–Soulier syndrome
• – factor V deficiency
• – factor VII deficiency
• – factor X deficiency
• – factor XI deficiency
• – factor XII deficiency
• – factor XIII deficiency
• – hemophilia A
• – hemophilia B
• – Hermansky–Pudlak syndrome
• – hypoprothrombinemias
• – protein C deficiency
• – thrombasthenia
• – Von Willebrand disease
• – Wiskott–Aldrich syndrome

  – [CADASIL]

– [cardiomyopathy, hypertrophic, familial]

– [cherubism]

– [chromosome disorders]

• – angelman syndrome
• – Beckwith–Wiedemann syndrome
• – branchio-oto-renal syndrome
• – cri du chat syndrome – De Lange syndrome
• – Down syndrome
• – holoprosencephaly
• – Prader–Willi syndrome
• – Rubinstein–Taybi syndrome
• – sex chromosome disorders
• – ectodermal dysplasia
• – focal dermal hypoplasia
• – fragile X syndrome
• – gonadal dysgenesis, 46,xy
• – gonadal dysgenesis, mixed
• – Klinefelter syndrome
• – orofaciodigital syndromes
• – Turner syndrome
• – WAGR syndrome
• – Williams syndrome

  – [cystic fibrosis]

– [dwarfism]

• – achondroplasia
• – cockayne syndrome
• – congenital hypothyroidism
• – laron syndrome
• – mulibrey nanism

  – [eye diseases, hereditary]

• – albinism
• – albinism, ocular
• – albinism, oculocutaneous
• – Hermansky–Pudlak syndrome
• – piebaldism
• – aniridia
• – WAGR syndrome
• – choroideremia
• – corneal dystrophies, hereditary
• – Fuchs' endothelial dystrophy
• – Duane retraction syndrome
• – gyrate atrophy
• – optic atrophies, hereditary
• – optic atrophy, hereditary, leber
• – optic atrophy, autosomal dominant
• – Wolfram syndrome
• – retinal dysplasia
• – retinitis pigmentosa
• – Usher syndromes

  – [familial Mediterranean fever]

– [genetic diseases, x-linked]

• – androgen insensitivity syndrome
• – choroideremia
• – dyskeratosis congenita
• – fabry disease
• – focal dermal hypoplasia
• – glycogen storage disease type IIb
• – glycogen storage disease type VIII
• – granulomatous disease, chronic
• – ichthyosis, x-linked
• – hemophilia B
• – mental retardation, x-linked
• – adrenoleukodystrophy
• – Coffin–Lowry syndrome
• – fragile X syndrome
• – Lesch–Nyhan syndrome
• – Menkes kinky hair syndrome
• – mucopolysaccharidosis II
• – pyruvate dehydrogenase complex deficiency disease
• – Rett syndrome
• – muscular dystrophy, Duchenne
• – muscular dystrophy, Emery–Dreifuss
• – oculocerebrorenal syndrome
• – Pelizaeus–Merzbacher disease
• – Wiskott–Aldrich syndrome

  – [genetic diseases, y-linked]

– [Hajdu–Cheney syndrome]

– [hemoglobinopathies]

• – anemia, sickle cell
• – hemoglobin sc disease
• – sickle cell trait
• – hemoglobin c disease
• – thalassemia
• – alpha-thalassemia
• – hydrops fetalis
• – beta-thalassemia

  – [heredodegenerative disorders, nervous system]

• – Alexander disease
• – amyloid neuropathies, familial
• – Canavan disease
• – Cockayne syndrome
• – dystonia musculorum deformans
• – Gerstmann–Sträussler–Scheinker disease
• – Hallervorden–Spatz syndrome
• – hepatolenticular degeneration
• – hereditary central nervous system demyelinating diseases
• – hereditary motor and sensory neuropathies
• – Charcot–Marie–Tooth disease
• – Refsum disease
• – spastic paraplegia, hereditary
• – hereditary sensory and autonomic neuropathies
• – dysautonomia, familial
• – Huntington disease
• – Lafora disease
• – Lesch–Nyhan syndrome
• – Menkes kinky hair syndrome
• – mental retardation, x-linked
• – adrenoleukodystrophy
• – Coffin–Lowry syndrome
• – fragile X syndrome
• – Lesch–Nyhan syndrome
• – Menkes kinky hair syndrome
• – mucopolysaccharidosis II
• – pyruvate dehydrogenase complex deficiency disease
• – Rett syndrome
• – myotonia congenita
• – myotonic dystrophy
• – neurofibromatosis
• – neurofibromatosis 1
• – neurofibromatosis 2
• – neuronal ceroid-lipofuscinosis
• – optic atrophies, hereditary
• – optic atrophy, hereditary, leber
• – optic atrophy, autosomal dominant
• – Wolfram syndrome
• – Rett syndrome
• – spinal muscular atrophies of childhood
• – spinocerebellar degenerations
• – Friedreich's ataxia
• – myoclonic cerebellar dyssynergia
• – olivopontocerebellar atrophies
• – spinocerebellar ataxias
• – Machado–Joseph disease
• – Tourette syndrome
• – tuberous sclerosis
• – Unverricht–Lundborg syndrome

  – [hyperthyroxinemia, familial dysalbuminemic]

– [Jervell and Lange-Nielsen syndrome]

– [kallmann syndrome]

– [kartagener syndrome]

– [marfan syndrome]

– [metabolism, inborn errors]

• – amino acid metabolism, inborn errors
• – albinism
• – albinism, ocular
• – albinism, oculocutaneous
• – Hermansky–Pudlak syndrome
• – piebaldism
• – alkaptonuria
• – aminoaciduria, renal
• – cystinuria
• – Hartnup disease
• – carbamoyl-phosphate synthase I deficiency disease
• – citrullinemia
• – homocystinuria
• – hyperargininemia
• – hyperglycinemia, nonketotic
• – hyperhomocysteinemia
• – hyperlysinemias
• – maple syrup urine disease
• – multiple carboxylase deficiency
• – biotinidase deficiency
• – holocarboxylase synthetase deficiency
• – ornithine carbamoyltransferase deficiency disease
• – phenylketonurias
• – phenylketonuria, maternal
• – tyrosinemias
• – amino acid transport disorders, inborn
• – Hartnup disease
• – oculocerebrorenal syndrome
• – amyloidosis, familial
• – amyloid neuropathies, familial
• – cerebral amyloid angiopathy, familial
• – brain diseases, metabolic, inborn
• – abetalipoproteinemia
• – carbamoyl-phosphate synthase I deficiency disease
• – cerebral amyloid angiopathy, familial
• – citrullinemia
• – galactosemias
• – Hartnup disease
• – hepatolenticular degeneration
• – homocystinuria
• – hyperargininemia
• – hyperglycinemia, nonketotic
• – hyperlysinemias
• – Leigh disease
• – Lesch–Nyhan syndrome
• – lysosomal storage diseases, nervous system
• – fucosidosis
• – glycogen storage disease type II
• – mucolipidoses
• – sialic acid storage disease
• – sphingolipidoses
• – Fabry disease – gangliosidoses
• – gangliosidoses GM2
• – Sandhoff disease
• – Tay–Sachs disease
• – Tay–Sachs disease, AB variant
• – gangliosidosis GM1
• – Gaucher disease
• – leukodystrophy, globoid cell
• – leukodystrophy, metachromatic
• – Niemann–Pick diseases
• – maple syrup urine disease
• – MELAS syndrome
• – Menkes kinky hair syndrome
• – MERRF syndrome
• – oculocerebrorenal syndrome
• – ornithine carbamoyltransferase deficiency disease
• – peroxisomal disorders
• – adrenoleukodystrophy
• – Refsum disease
• – Zellweger syndrome
• – phenylketonurias
• – phenylketonuria, maternal
• – pyruvate carboxylase deficiency disease
• – pyruvate dehydrogenase complex deficiency disease
• – tyrosinemias
• – carbohydrate metabolism, inborn errors
• – carbohydrate-deficient glycoprotein syndrome
• – fructose metabolism, inborn errors
• – fructose-1,6-diphosphatase deficiency
• – Hereditary fructose intolerance
• – fucosidosis
• – galactosemias
• – glycogen storage disease
• – glycogen storage disease type I
• – glycogen storage disease type II
• – glycogen storage disease type IIb
• – glycogen storage disease type III
• – glycogen storage disease type IV
• – glycogen storage disease type V
• – glycogen storage disease type VI
• – glycogen storage disease type VII
• – glycogen storage disease type VIII
• – hyperoxaluria, primary
• – lactose intolerance
• – mannosidase deficiency diseases
• – alpha-mannosidosis
• – beta-mannosidosis
• – mucolipidoses
• – mucopolysaccharidoses
• – mucopolysaccharidosis I
• – mucopolysaccharidosis II
• – mucopolysaccharidosis III
• – mucopolysaccharidosis IV
• – mucopolysaccharidosis VI
• – mucopolysaccharidosis VII
• – multiple carboxylase deficiency
• – biotinidase deficiency
• – holocarboxylase synthetase deficiency
• – nesidioblastosis
• – persistent hyperinsulinemia hypoglycemia of infancy
• – pyruvate metabolism, inborn errors
• – Leigh disease
• – pyruvate carboxylase deficiency disease
• – pyruvate dehydrogenase complex deficiency disease
• – cytochrome-c oxidase deficiency
• – glucosephosphate dehydrogenase deficiency
• – hyperbilirubinemia, hereditary
• – Crigler–Najjar syndrome
• – Gilbert disease
• – jaundice, chronic idiopathic
• – lipid metabolism, inborn errors
• – hypercholesterolemia, familial
• – hyperlipidemia, familial combined
• – hypercholesterolemia, familial
• – hyperlipoproteinemia type IV
• – hyperlipoproteinemia type III
• – hyperlipoproteinemia type IV
• – hyperlipoproteinemia type V
• – hypolipoproteinemia
• – abetalipoproteinemia
• – hypobetalipoproteinemia
• – lecithin acyltransferase deficiency
• – Tangier disease
• – lipoidosis
• – cholesterol ester storage disease
• – lipoidproteinosis
• – neuronal ceroid-lipofuscinosis
• – refsum disease
• – sjogren-larsson syndrome
• – sphingolipidoses
• – Fabry disease
• – gangliosidoses
• – gangliosidoses GM2
• – Sandhoff disease
• – Tay–Sachs disease
• – Tay–Sachs disease, AB variant
• – gangliosidosis GM1
• – Gaucher disease
• – leukodystrophy, globoid cell
• – leukodystrophy, metachromatic
• – Niemann–Pick diseases
• – sea-blue histiocyte syndrome
• – Wolman disease
• – lipoprotein lipase deficiency, familial
• – peroxisomal disorders
• – acatalasia
• – adrenoleukodystrophy
• – chondrodysplasia punctata, rhizomelic
• – Refsum disease
• – Zellweger syndrome
• – Smith–Lemli–Opitz syndrome
• – xanthomatosis, cerebrotendinous
• – lysosomal storage diseases
• – cholesterol ester storage disease
• – lysosomal storage diseases, nervous system
• – fucosidosis
• – glycogen storage disease type II
• – mucolipidoses
• – sialic acid storage disease
• – sphingolipidoses
• – Fabry disease
• – gangliosidoses
• – gangliosidoses GM2
• – Sandhoff disease
• – Tay–Sachs disease
• – Tay–Sachs disease, AB variant
• – gangliosidosis GM1
• – Gaucher disease
• – leukodystrophy, globoid cell
• – leukodystrophy, metachromatic
• – Niemann–Pick diseases
• – mannosidase deficiency diseases
• – alpha-mannosidosis
• – beta-mannosidosis
• – mucopolysaccharidoses
• – mucopolysaccharidosis I
• – mucopolysaccharidosis II
• – mucopolysaccharidosis III
• – mucopolysaccharidosis IV
• – mucopolysaccharidosis VI
• – mucopolysaccharidosis VII
• – sphingolipidoses
• – Fabry disease
• – gangliosidoses
• – gangliosidoses GM2
• – Sandhoff disease
• – Tay–Sachs disease
• – Tay–Sachs disease, AB variant
• – Gaucher disease
• – leukodystrophy, globoid cell
• – leukodystrophy, metachromatic
• – niemann-pick diseases
• – sea-blue histiocyte syndrome
• – Wolman disease
• – metal metabolism, inborn errors
• – hemochromatosis
• – hepatolenticular degeneration
• – hypophosphatasia
• – hypophosphatemia, familial
• – Menkes kinky hair syndrome
• – paralyses, familial periodic
• – hypokalemic periodic paralysis
• – paralysis, hyperkalemic periodic
• – Andersen syndrome
• – pseudohypoparathyroidism
• – pseudopseudohypoparathyroidism
• – porphyria, erythropoietic
• – porphyrias, hepatic
• – coproporphyria, hereditary
• – porphyria, acute intermittent
• – porphyria cutanea tarda
• – porphyria, hepatoerythropoietic
• – porphyria, variegate
• – protoporphyria, erythropoietic
• – progeria
• – purine–pyrimidine metabolism, inborn errors
• – gout
• – arthritis, gouty
• – Lesch–Nyhan syndrome
• – renal tubular transport, inborn errors
• – acidosis, renal tubular
• – aminoaciduria, renal
• – cystinuria
• – Hartnup disease
• – cystinosis
• – Fanconi syndrome
• – glycosuria, renal
• – hypophosphatemia, familial
• – oculocerebrorenal syndrome
• – pseudohypoaldosteronism
• – steroid metabolism, inborn errors
• – adrenal hyperplasia, congenital
• – mineralocorticoid excess syndrome, apparent
• – ichthyosis, x-linked
• – Smith–Lemli–Opitz syndrome

  – [muscular dystrophies]

• – distal myopathies
• – glycogen storage disease type VII
• – muscular dystrophies, limb-girdle
• – muscular dystrophy, Duchenne
• – muscular dystrophy, Emery–Dreifuss
• – muscular dystrophy, facioscapulohumeral
• – muscular dystrophy, oculopharyngeal
• – myotonic dystrophy

  – [myasthenic syndromes, congenital]

– [nail–patella syndrome]

– [neoplastic syndromes, hereditary]

• – adenomatous polyposis coli
• – Gardner's syndrome
• – basal-cell nevus syndrome
• – colorectal neoplasms, hereditary nonpolyposis
• – dysplastic nevus syndrome
• – exostoses, multiple hereditary
• – hamartoma syndrome, multiple
• – Li–Fraumeni syndrome
• – multiple endocrine neoplasia
• – multiple endocrine neoplasia type 1
• – multiple endocrine neoplasia type 2a
• – multiple endocrine neoplasia type 2b
• – Wilms' tumor
• – Denys–Drash syndrome
• – WAGR syndrome
• – Neurofibromatosis
• – neurofibromatosis 1
• – neurofibromatosis 2
• – Peutz–Jeghers syndrome
• – Sturge–Weber syndrome

  – [osteogenesis imperfecta]

– [pain insensitivity, congenital]

– [Romano–Ward syndrome]

– [skin diseases, genetic]

• – albinism
• – albinism, ocular
• – albinism, oculocutaneous
• – Hermansky–Pudlak syndrome
• – piebaldism
• – cutis laxa
• – dermatitis, atopic
• – dyskeratosis congenita
• – ectodermal dysplasia
• – Ellis–van Creveld syndrome
• – focal dermal hypoplasia
• – neurocutaneous syndromes
• – Ehlers–Danlos syndrome
• – epidermolysis bullosa
• – epidermolysis bullosa dystrophica
• – epidermolysis bullosa, junctional
• – epidermolysis bullosa simplex
• – ichthyosiform erythroderma, congenital
• – hyperkeratosis, epidermolytic
• – ichthyosis, lamellar
• – ichthyosis vulgaris
• – ichthyosis, x-linked
• – incontinentia pigmenti
• – keratoderma, palmoplantar
• – keratoderma, palmoplantar, diffuse
• – Papillon–Lefèvre disease
• – keratosis follicularis
• – pemphigus, benign familial
• – porokeratosis
• – porphyria, erythropoietic
• – porphyrias, hepatic
• – coproporphyria, hereditary
• – porphyria, acute intermittent
• – porphyria cutanea tarda
• – porphyria, hepatoerythropoietic
• – porphyria, variegate
• – protoporphyria, erythropoietic
• – pseudoxanthoma elasticum
• – Rothmund–Thomson syndrome
• – Sjögren–Larsson syndrome
• – xeroderma pigmentosum

  – [Werner syndrome]

– [infant, newborn, diseases]

– [amniotic band syndrome]

– [anemia, neonatal]

• – fetofetal transfusion
• – fetomaternal transfusion

  – [asphyxia neonatorum]

– birth injuries">birth trauma (physical)">birth injuries

• – paralysis, obstetric

  – [cystic fibrosis]

– [epilepsy, benign neonatal]

– [erythroblastosis, fetal]

• – kernicterus

  – [hemorrhagic disease of newborn]

– [hernia, umbilical]

– [hydrocephalus]

• – Dandy–Walker syndrome

  – [hydrophthalmos]

– [hyperbilirubinemia, neonatal]

• – jaundice, neonatal
• – jaundice, chronic idiopathic

  – [hyperostosis, cortical, congenital]

– [ichthyosis]

• – ichthyosiform erythroderma, congenital
• – hyperkeratosis, epidermolytic
• – ichthyosis, lamellar
• – ichthyosis, x-linked
• – Sjögren–Larsson syndrome

  – [infant, premature, diseases]

• – bronchopulmonary dysplasia
• – leukomalacia, periventricular
• – respiratory distress syndrome, newborn
• – hyaline membrane disease
• – retinopathy of prematurity

  – [meconium aspiration syndrome]

– [Möbius syndrome]

– [neonatal abstinence syndrome]

– [nystagmus, congenital]

– [ophthalmia neonatorum]

– [persistent fetal circulation syndrome]

– [persistent hyperinsulinemia hypoglycemia of infancy]

– [Rothmund–Thomson syndrome]

– [sclerema neonatorum]

– [severe combined immunodeficiency]

– [syphilis, congenital]

– [thanatophoric dysplasia]

– [toxoplasmosis, congenital]

– [Wolman disease]