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Conditions and Diseases – Birth Defects

Conditions and Diseases – Birth Defects

4ABCDEFGHIKLMNOPRSTUVWX

This collection focuses on conditions associated to birth defects.

These comprehensive and concise factsheets are physician-reviewed and reflect the most current, evidence-based information. Relevant sources are provided for each fact sheet.

4

  • 47 XXY syndrome

A

  • Aarskog-Scott syndrome
  • AAT deficiency
  • Abdominal hernia
  • Abdominal wall defect
  • Absent pulmonary valve - child
  • Achondroplasia
  • Achondroplastic dwarfism
  • Acute central cord syndrome
  • Adrenoleukodystrophy X-linked
  • Aganglionic megacolon
  • Agranulocytosis
  • Albinism
  • ALCA - child
  • Alcohol in pregnancy
  • Alpha 1 anti-trypsin deficiency
  • Alpha-1 antiprotease deficiency
  • ALS
  • Alpha-galactosidase A deficiency
  • Amyotrophic lateral sclerosis
  • AN
  • Anal atresia
  • Anderson-Fabry disease
  • Angiokeratoma corporis diffusum
  • Angiokeratoma diffuse
  • Anomalous left coronary artery - child
  • Anomaly, Ebstein's - child
  • Anomia, aphasia-associated
  • Anomic aphasia
  • Anorectal malfunction
  • Anthrax
  • Aortic coarctation - child
  • Aortic stenosis - child
  • Aphasia-associated anomia
  • Arnold-Chiari malformation
  • Arnold-Chiari syndrome
  • Arteriovenous malformations
  • AS - child
  • ASD
  • Atrial septal defect
  • Atrioventricular canal defect - child
  • Auditory dyssynchrony
  • Auditory neuropathy
  • Auditory processing disorder
  • Auditory synaptopothy
  • AV canal defect - child
  • AVM

B

  • Batten disease
  • Birth marks
  • Brachial plexus palsy

C

  • CCS
  • Central cervical cord syndrome
  • Central cord injury
  • Central cord syndrome
  • Ceramide trihexosidase deficiency
  • Cerebellomedullary malformation syndrome
  • Cervical myelopathy
  • Chordee
  • Chromosome 22q11 deletion syndrome
  • Chronic atrophic pyelonephritis - child
  • Cleft lip
  • Cleft palate
  • Coarctation of the aorta - child
  • Colonic aganglionosis
  • Complete AV canal - child
  • Complete common AV canal - child
  • Congenital dislocation of the hip
  • Congenital dysplasia of the hip
  • Congenital dysplasia/dislocation of the hip [CDH]
  • Congenital hernia of the diaphragm
  • Congenital hip dislocation
  • Congenital hip dysplasia
  • Congenital hip subluxability
  • Congenital kyphosis
  • Congenital megacolon or megarectum
  • Congenital rubella syndrome
  • Congenital subluxability of the hip
  • Copper transport disease
  • Coronary artery fistula - child
  • Craniofacial dysotosis
  • Crouzon syndrome
  • CRS
  • Cryptorchidism
  • Cystic fibrosis

D

  • D incompatibility
  • Dandy Walker
  • Dandy Walker malformation
  • Dandy-Walker syndrome
  • DDH
  • Developmental dysplasia of the hip
  • Deviated nasal septum
  • Diaphragmatic hernia
  • Difficulty naming objects and people
  • DiGeorge syndrome
  • DMD
  • DORV - child
  • Double aortic arch - child
  • Double-outlet right ventricle - child
  • Down's syndrome
  • Drinking alcohol during pregnancy
  • Duchenne muscular dystrophy
  • Dysplasia of the hip, developmental

E

  • Early-onset germinal matrix hemorrhage
  • Ebstein's anomaly - child
  • Ebstein's malformation - child
  • EDS
  • EGMH
  • Ehlers-Danlos syndrome
  • Endocardial cushion defect - child
  • Epigastic hernia
  • Erb's palsy
  • Erb-duchenne paralysis

F

  • Fabry disease
  • Faciodigitogenital dysplasia
  • Familial adenomatous polyposis
  • Familial Dandy Walker
  • Familial hypercholesterolemia
  • Fecal incontinence
  • Femoral hernia
  • Fetal cardiac dysfunction - child
  • FH

G

  • Gaucher disease
  • Gilbert's syndrome
  • GLA deficiency
  • Glycolipid lipidosis
  • Granulocytopenia
  • Granulopenia

H

  • HAEC
  • Hemangioma
  • Hemophilia
  • Hereditary dystopic lipidosis
  • Hernia, abdominal
  • Hernia—diaphragmatic
  • Hiatal hernia
  • Hirschprung-Galant infantilism
  • Hirschsprung's disease
  • Hirschsprung's-associated enterocolitis
  • HLHS
  • Hole in the heart
  • Hunchback
  • Huntington's chorea
  • Huntington's disease
  • Hypoplastic left heart syndrome
  • Hypospadias

I

  • Ichthyosis
  • Imperforate anus
  • Incisional hernia
  • Infantile hypertrophic pyloric stenosis
  • Inguinal hernia
  • Inherited metabolic diseases - overview
  • Injury, central cord
  • Interrupted aortic arch - child
  • Intraventricular hemorrhage of infancy
  • IVH

K

  • Klinefelter syndrome
  • Kyphosis

L

  • Lymphedema

M

  • Malformation, Ebstein's - child
  • Marfan syndrome
  • Martin-Bell syndrome
  • Meckel's diverticulum
  • Menkes syndrome
  • Mental retardation
  • Mya's disease
  • Myelopathy, cervical

N

  • Neural tube defect – spina bifida
  • Neurofibromatosis
  • Neuronal ceroid lipofuscinoses
  • Neuropathy, auditory
  • Neutropenia
  • Niemann-Pick disease
  • Nominal aphasia

O

  • Oral-facial clefts
  • Osteogenesis imperfecta

P

  • Paralysis, upper extremity
  • Periventricular-intraventricular hemorrhage
  • Persistent pulmonary hypertension of the newborn
  • PIVH
  • Postural kyphosis
  • PPHN
  • Prader-Willi syndrome
  • Primary lymphedema
  • Pseudohypertrophic muscular dystophy
  • Pulmonary atresia - child
  • Pulmonary stenosis - child
  • Pulmonary valve stenosis - child
  • Pyloric stenosis

R

  • Reflux nephropathy - child
  • Retinopathy of prematurity
  • Retrolental Fibroplasia
  • RLF
  • ROP
  • Roundback of the spine
  • Ruysch's disease

S

  • Scheuermann's kyphosis
  • Schilder’s disease
  • Seconary lymphedema
  • Septal defects
  • SHE
  • Sickle cell anemia
  • Sickle cell disease
  • Single ventricle anomalies - child
  • Single ventricle defect - child
  • Single ventricle lesions - child
  • Sinus headache
  • Spigelian hernia
  • Spina bifida
  • Steely hair disease
  • Stenosis, aortic - child
  • Subependymal germinal matrix hemorrhage
  • Sudanophilic leukodystrophy
  • Syndrome, central cervical cord
  • Syndrome, central cord

T

  • TAPVC - child
  • TAPVD - child
  • TAPVR - child
  • Tay-Sachs disease
  • Tetralogy of Fallot
  • Total anomalous pulmonary venous connnection - child
  • Total anomalous pulmonary venous drainage - child
  • Total anomalous pulmonary venous return - child
  • Trichopoliodystrophy
  • Tricuspid atresia - child
  • Tricuspid regurgitation
  • Tricuspid stenosis
  • Tricuspid valve disease
  • Trisomy 21
  • Truncus arteriosus - child
  • Turner syndrome
  • Type II Chiari Malformation

U

  • Umbilical hernia
  • Undescended testes
  • Upper extremity paralysis
  • Ureteral reflux - child

V

  • Vascular ring - child
  • Velocardiofacial syndrome
  • Ventral hernia
  • Ventricular septal defect
  • Vesico-ureteric reflux - child
  • Vesicoureteral reflux - child
  • Von Hippel-Lindau disease
  • Von Willebrand disease
  • VUR - child

W

  • Wilson's disease

X

  • X-linked adrenoleukodystrophy
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