LIST OF POSSIBLE DISEASES (Congenital Abnormalities)
(Clic here to try diagnostic from symptoms)

- Abnormalities, Multiple -- Abnormalities, Severe Teratoid -- Cardiovascular Abnormalities -- Chromosome Disorders -- Digestive System Abnormalities -- Eye Abnormalities -- Lymphatic Abnormalities -- Musculoskeletal Abnormalities -- Nervous System Malformations -- Respiratory System Abnormalities -- Situs Inversus -- Skin Abnormalities -- Stomatognathic System Abnormalities -- Thyroid Dysgenesis -- Urogenital Abnormalities -

2

22q11 Deletion Syndrome

4

46, XX Disorders of Sex Development
46, XX Testicular Disorders of Sex Development
46, XY Disorders of Sex Development

A

Abnormalities, Drug-Induced
Abnormalities, Multiple
Abnormalities, Radiation-Induced
Abnormalities, Severe Teratoid
Acrocallosal Syndrome
Acrocephalosyndactylia
Acrodermatitis
Adrenal Hyperplasia, Congenital
Adrenogenital Syndrome
Agenesis of Corpus Callosum
Aicardi Syndrome
Alagille Syndrome
Alstrom Syndrome
Amelogenesis Imperfecta
Andersen Syndrome
Androgen-Insensitivity Syndrome
Anencephaly
Angelman Syndrome
Aniridia
Anodontia
Anophthalmos
Antley-Bixler Syndrome Phenotype
Anus, Imperforate
Aortic Coarctation
Aortopulmonary Septal Defect
Arachnodactyly
Arachnoid Cysts
Arnold-Chiari Malformation
Arrhythmogenic Right Ventricular Dysplasia
Arterio-Arterial Fistula
Arteriovenous Fistula
Arteriovenous Malformations
Arthrogryposis

B

Bardet-Biedl Syndrome
Barth Syndrome
Basal Cell Nevus Syndrome
Beckwith-Wiedemann Syndrome
Biliary Atresia
Bladder Exstrophy
Bland White Garland Syndrome
Blepharophimosis
Bloom Syndrome
Brachydactyly
Branchio-Oto-Renal Syndrome
Bronchogenic Cyst
Bronchomalacia
Bronchopulmonary Sequestration

C

Campomelic Dysplasia
Cardiovascular Abnormalities
Carney Complex
Caroli Disease
Central Nervous System Cysts
Central Nervous System Vascular Malformations
Central Nervous System Venous Angioma
Cervical Rib Syndrome
Charcot-Marie-Tooth Disease
CHARGE Syndrome
Cherubism
Choanal Atresia
Choledochal Cyst
Chromosome Disorders
Classical Lissencephalies and Subcortical Band Heterotopias
Cleft Lip
Cleft Palate
Cleidocranial Dysplasia
Clubfoot
Cobblestone Lissencephaly
Cockayne Syndrome
Colloid Cysts
Coloboma
Cor Triatriatum
Coronary Vessel Anomalies
Costello Syndrome
Craniofacial Abnormalities
Craniofacial Dysostosis
Craniosynostoses
Cri-du-Chat Syndrome
Crisscross Heart
Cryptorchidism
Cystic Adenomatoid Malformation of Lung, Congenital

D

Dandy-Walker Syndrome
De Lange Syndrome
Deaf-Blind Disorders
Dens in Dente
Dental Enamel Hypoplasia
Dentin Dysplasia
Dentinogenesis Imperfecta
Dentofacial Deformities
Denys-Drash Syndrome
Dextrocardia
Diaphragmatic Eventration
DiGeorge Syndrome
Digestive System Abnormalities
Disorders of Sex Development
Donohue Syndrome
Double Outlet Right Ventricle
Down Syndrome
Ductus Arteriosus, Patent
Dysautonomia, Familial
Dyskeratosis Congenita

E

Ebstein Anomaly
Ectodermal Dysplasia
Ectodermal Dysplasia 1, Anhidrotic
Ectodermal Dysplasia 3, Anhidrotic
Ectodermal Dysplasia, Hypohidrotic, Autosomal Recessive
Ectopia Cordis
Ectopia Lentis
Ectromelia
Ehlers-Danlos Syndrome
Eisenmenger Complex
Ellis-Van Creveld Syndrome
Encephalocele
Endocardial Cushion Defects
Epidermolysis Bullosa
Epidermolysis Bullosa Acquisita
Epidermolysis Bullosa Dystrophica
Epidermolysis Bullosa Simplex
Epidermolysis Bullosa, Junctional
Epispadias
Esophageal Atresia
Eye Abnormalities

F

Fibromatosis, Gingival
Focal Dermal Hypoplasia
Foot Deformities, Congenital
Foramen Ovale, Patent
Fragile X Syndrome
Fraser Syndrome
Frasier Syndrome
Freemartinism
Funnel Chest
Fused Teeth

G

Gardner Syndrome
Gastroschisis
Giant Axonal Neuropathy
Goldenhar Syndrome
Gonadal Dysgenesis
Gonadal Dysgenesis, 46,XX
Gonadal Dysgenesis, 46,XY
Gonadal Dysgenesis, Mixed
Gonadoblastoma

H

Hajdu-Cheney Syndrome
Hallermann's Syndrome
Hand Deformities, Congenital
Heart Defects, Congenital
Heart Septal Defects
Heart Septal Defects, Atrial
Heart Septal Defects, Ventricular
Hemangioma, Cavernous, Central Nervous System
Hereditary Sensory and Autonomic Neuropathies
Hereditary Sensory and Motor Neuropathy
Heterotaxy Syndrome
Hip Dislocation, Congenital
Hirschsprung Disease
Holoprosencephaly
Hydranencephaly
Hydrophthalmos
Hyperandrogenism
Hyperkeratosis, Epidermolytic
Hypertelorism
Hypoplastic Left Heart Syndrome
Hypospadias

I

Ichthyosiform Erythroderma, Congenital
Ichthyosis
Ichthyosis Bullosa of Siemens
Ichthyosis Vulgaris
Ichthyosis, Lamellar
Ichthyosis, X-Linked
Incontinentia Pigmenti
Intestinal Atresia
Intracranial Arteriovenous Malformations
Isolated Noncompaction of the Ventricular Myocardium

J

Jacobsen Distal 11q Deletion Syndrome
Jaw Abnormalities
Jervell-Lange Nielsen Syndrome

K

Kallmann Syndrome
Kartagener Syndrome
Klinefelter Syndrome
Klippel-Feil Syndrome

L

Laryngocele
Laryngomalacia
Laryngostenosis
Laurence-Moon Syndrome
LEOPARD Syndrome
Levocardia
Limb Deformities, Congenital
Lingual Goiter
Lingual Thyroid
Lissencephaly
Loeys-Dietz Syndrome
Long QT Syndrome
Lower Extremity Deformities, Congenital
Lutembacher Syndrome
Lymphangiectasis, Intestinal
Lymphatic Abnormalities

M

Macrocephaly
Macrostomia
Malformations of Cortical Development
Mandibulofacial Dysostosis
Marfan Syndrome
Maxillofacial Abnormalities
May-Thurner Syndrome
Meckel Diverticulum
Meningocele
Meningomyelocele
Microcephaly
Micrognathism
Microphthalmos
Microstomia
Mobius Syndrome
Monilethrix
Mouth Abnormalities
Multicystic Dysplastic Kidney
Musculoskeletal Abnormalities
Myocardial Bridging

N

Nail-Patella Syndrome
Nephritis, Hereditary
Nervous System Malformations
Netherton Syndrome
Neural Tube Defects
Neurocutaneous Syndromes
Neuronal Migration Disorders
Nevus, Sebaceous of Jadassohn
Noonan Syndrome

O

Oculocerebrorenal Syndrome
Odontodysplasia
Orofaciodigital Syndromes
Ovotesticular Disorders of Sex Development

P

Pachyonychia Congenita
Pallister-Hall Syndrome
Pentalogy of Cantrell
Periventricular Nodular Heterotopia
Persistent Hyperplastic Primary Vitreous
Pierre Robin Syndrome
Plagiocephaly
Plagiocephaly, Nonsynostotic
Platybasia
POEMS Syndrome
Poland Syndrome
Polydactyly
Port-Wine Stain
Prader-Willi Syndrome
Prognathism
Prolidase Deficiency
Proteus Syndrome
Prune Belly Syndrome
Pseudoxanthoma Elasticum
Pulmonary Atresia
Pyelectasis

R

Refsum Disease
Respiratory System Abnormalities
Retinal Dysplasia
Retrocaval Ureter
Retrognathia
Romano-Ward Syndrome
Rothmund-Thomson Syndrome
Rubella Syndrome, Congenital
Rubinstein-Taybi Syndrome

S

Scimitar Syndrome
Sclerema Neonatorum
Septo-Optic Dysplasia
Sex Chromosome Disorders
Sex Chromosome Disorders of Sex Development
Sexual Infantilism
Short Rib-Polydactyly Syndrome
Silver-Russell Syndrome
Single Umbilical Artery
Sinus Pericranii
Situs Inversus
Sjogren-Larsson Syndrome
Skin Abnormalities
Smith-Lemli-Opitz Syndrome
Smith-Magenis Syndrome
Sotos Syndrome
Spastic Paraplegia, Hereditary
Spina Bifida Cystica
Spina Bifida Occulta
Spinal Dysraphism
Steatocystoma Multiplex
Stomatognathic System Abnormalities
Syndactyly
Synostosis

T

Telangiectasia, Hereditary Hemorrhagic
Tetralogy of Fallot
Thanatophoric Dysplasia
Thyroid Dysgenesis
Tooth Abnormalities
Tooth, Supernumerary
Tracheobronchomalacia
Tracheobronchomegaly
Tracheomalacia
Transposition of Great Vessels
Trichothiodystrophy Syndromes
Tricuspid Atresia
Trilogy of Fallot
Truncus Arteriosus, Persistent
Tuberous Sclerosis
Turner Syndrome
Twins, Conjoined

U

Upper Extremity Deformities, Congenital
Urogenital Abnormalities
Usher Syndromes

V

Vascular Malformations
Vein of Galen Malformations
Velopharyngeal Insufficiency

W

Waardenburg Syndrome
WAGR Syndrome
Walker-Warburg Syndrome
Weill-Marchesani Syndrome
Williams Syndrome
Wolf-Hirschhorn Syndrome
Wolff-Parkinson-White Syndrome
Wolfram Syndrome

X

Xeroderma Pigmentosum

Z

Zellweger Syndrome

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