Birth Defects

Related topics on Genetics Home Reference:

• 15q13.3 microdeletion
• 15q24 microdeletion
• 16p11.2 deletion syndrome
• 17-beta hydroxysteroid dehydrogenase 3 deficiency
• 1p36 deletion syndrome
• 1q21.1 microdeletion
• 21-hydroxylase deficiency
• 22q11.2 deletion syndrome
• 22q11.2 duplication
• 22q13.3 deletion syndrome
• 2q37 deletion syndrome
• 3-beta-hydroxysteroid dehydrogenase deficiency
• 46,XX testicular disorder of sex development
• 48,XXYY syndrome
• 5-alpha reductase deficiency
• 9q22.3 microdeletion
• abdominal wall defect
• Aicardi syndrome
• Alagille syndrome
• Allan-Herndon-Dudley syndrome
• Alport syndrome
• Alström syndrome
• amelogenesis imperfecta
• Amish lethal microcephaly
• Andermann syndrome
• Andersen-Tawil syndrome
• androgen insensitivity syndrome
• anencephaly
• Angelman syndrome
• aniridia
• ankyloblepharon-ectodermal defects-cleft lip/palate syndrome
• Apert syndrome
• arrhythmogenic right ventricular cardiomyopathy
• arterial tortuosity syndrome
• autosomal recessive primary microcephaly
• Axenfeld-Rieger syndrome
• Baller-Gerold syndrome
• Baraitser-Winter syndrome
• Bardet-Biedl syndrome
• Beare-Stevenson cutis gyrata syndrome
• Beckwith-Wiedemann syndrome
• Bloom syndrome
• branchio-oculo-facial syndrome
• branchiootorenal syndrome
• campomelic dysplasia
• capillary malformation-arteriovenous malformation syndrome
• cardiofaciocutaneous syndrome
• Carney complex
• Carpenter syndrome
• cerebral cavernous malformation
• Charcot-Marie-Tooth disease
• CHARGE syndrome
• Char syndrome
• cherubism
• cleidocranial dysplasia
• Cockayne syndrome
• Cohen syndrome
• cold-induced sweating syndrome
• coloboma
• congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiency
• congenital bilateral absence of the vas deferens
• congenital cataracts, facial dysmorphism, and neuropathy
• congenital contractural arachnodactyly
• congenital hemidysplasia with ichthyosiform erythroderma and limb defects
• congenital insensitivity to pain with anhidrosis
• Cornelia de Lange syndrome
• Costello syndrome
• craniofacial-deafness-hand syndrome
• craniofacial microsomia
• craniometaphyseal dysplasia
• cri-du-chat syndrome
• Crouzonodermoskeletal syndrome
• Crouzon syndrome
• cytochrome P450 oxidoreductase deficiency
• Dandy-Walker syndrome
• dentinogenesis imperfecta
• Denys-Drash syndrome
• distal arthrogryposis type 1
• Down syndrome
• Duane-radial ray syndrome
• dyskeratosis congenita
• dystrophic epidermolysis bullosa
• Ehlers-Danlos syndrome
• Ellis-van Creveld syndrome
• Emanuel syndrome
• epidermolysis bullosa simplex
• epidermolysis bullosa with pyloric atresia
• epidermolytic hyperkeratosis
• esophageal atresia/tracheoesophageal fistula
• familial dysautonomia
• FG syndrome
• Floating-Harbor syndrome
• focal dermal hypoplasia
• fragile X syndrome
• Frasier syndrome
• Freeman-Sheldon syndrome
• Fryns syndrome
• geleophysic dysplasia
• Genetic Conditions
• genitopatellar syndrome
• giant axonal neuropathy
• Gorlin syndrome
• Greig cephalopolysyndactyly syndrome
• hand-foot-genital syndrome
• harlequin ichthyosis
• hereditary hemorrhagic telangiectasia
• hereditary neuropathy with liability to pressure palsies
• hereditary sensory and autonomic neuropathy type IE
• hereditary sensory and autonomic neuropathy type II
• hereditary sensory and autonomic neuropathy type V
• hereditary sensory neuropathy type 1
• Hirschsprung disease
• Holt-Oram syndrome
• hypohidrotic ectodermal dysplasia
• hystrix-like ichthyosis with deafness
• incontinentia pigmenti
• infantile-onset ascending hereditary spastic paralysis
• intrauterine growth restriction, metaphyseal dysplasia, adrenal hypoplasia congenita, and genital anomalies
• isodicentric chromosome 15 syndrome
• Jackson-Weiss syndrome
• Jacobsen syndrome
• Jervell and Lange-Nielsen syndrome
• Joubert syndrome
• junctional epidermolysis bullosa
• Kabuki syndrome
• Kallmann syndrome
• Kleefstra syndrome
• Klinefelter syndrome
• Klippel-Feil syndrome
• Koolen-de Vries syndrome
• L1 syndrome
• lamellar ichthyosis
• Langer mesomelic dysplasia
• Léri-Weill dyschondrosteosis
• Leydig cell hypoplasia
• Loeys-Dietz syndrome
• Lowe syndrome
• Marfan syndrome
• Mayer-Rokitansky-Küster-Hauser syndrome
• McKusick-Kaufman syndrome
• Meckel syndrome
• microphthalmia
• microphthalmia with linear skin defects syndrome
• Miller-Dieker syndrome
• Miller syndrome
• Moebius syndrome
• monilethrix
• Mowat-Wilson syndrome
• Muenke syndrome
• multiple lentigines syndrome
• Myhre syndrome
• Nager syndrome
• nail-patella syndrome
• nonbullous congenital ichthyosiform erythroderma
• nonsyndromic holoprosencephaly
• Noonan syndrome
• Ochoa syndrome
• oculodentodigital dysplasia
• Ohdo syndrome, Maat-Kievit-Brunner type
• Ohdo syndrome, Say-Barber-Biesecker-Young-Simpson variant
• Opitz G/BBB syndrome
• oral-facial-digital syndrome
• pachyonychia congenita
• Pallister-Hall syndrome
• Pallister-Killian mosaic syndrome
• Parkes Weber syndrome
• periventricular heterotopia
• persistent Müllerian duct syndrome
• Pfeiffer syndrome
• Poland syndrome
• polymicrogyria
• popliteal pterygium syndrome
• Potocki-Shaffer syndrome
• Prader-Willi syndrome
• prolidase deficiency
• Proteus syndrome
• pseudoxanthoma elasticum
• recombinant 8 syndrome
• Refsum disease
• Roberts syndrome
• Robinow syndrome
• Romano-Ward syndrome
• Rothmund-Thomson Syndrome
• Rubinstein-Taybi syndrome
• Russell-Silver syndrome
• Saethre-Chotzen syndrome
• Schinzel-Giedion syndrome
• Senior-Løken syndrome
• septo-optic dysplasia
• Shprintzen-Goldberg syndrome
• Silver syndrome
• Simpson-Golabi-Behmel syndrome
• Sjögren-Larsson syndrome
• Smith-Lemli-Opitz syndrome
• Smith-Magenis syndrome
• Sotos syndrome
• SOX2 anophthalmia syndrome
• spastic paraplegia type 11
• spastic paraplegia type 2
• spastic paraplegia type 3A
• spastic paraplegia type 4
• spastic paraplegia type 7
• spastic paraplegia type 8
• spina bifida
• steatocystoma multiplex
• Swyer syndrome
• tarsal-carpal coalition syndrome
• tetra-amelia syndrome
• tetrasomy 18p
• thanatophoric dysplasia
• thrombocytopenia-absent radius syndrome
• Timothy syndrome
• Townes-Brocks Syndrome
• Treacher Collins syndrome
• trichothiodystrophy
• triple X syndrome
• trisomy 18
• Troyer syndrome
• tuberous sclerosis complex
• Turner syndrome
• Usher syndrome
• VACTERL association
• van der Woude syndrome
• Waardenburg syndrome
• Weill-Marchesani syndrome
• Williams syndrome
• Wilms tumor, aniridia, genitourinary anomalies, and mental retardation syndrome
• WNT4 Müllerian aplasia and ovarian dysfunction
• Wolff-Parkinson-White syndrome
• Wolf-Hirschhorn syndrome
• Wolfram syndrome
• xeroderma pigmentosum

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