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.
A
- 22q11.2 deletion syndrome
- Aarskog-Scott syndrome
- AAT deficiency
- 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
- Ankyloglossia
- 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 of the central nervous system
- Arteriovenous malformations of the brain
- Arteriovenous malformations of the spinal cord
- AS—child
- ASD—atrial septal defect
- Atelectasis in infants
- Atresia, intestinal
- Atrial septal defect
- Atrioventricular canal defect—child
- Auditory dyssynchrony
- Auditory neuropathy
- Auditory processing disorder
- Auditory synaptopothy
- AV canal defect—child
- AVM
C
- CADASIL
- CCS
- Central cervical cord syndrome
- Central cord injury
- Central cord syndrome
- Ceramide trihexosidase deficiency
- Cerebellomedullary malformation syndrome
- Cerebral hypoxia—newborn
- Cervical myelopathy
- Chiari malformation
- Chordee
- Chromosome 22q11 deletion syndrome
- Chronic atrophic pyelonephritis - child
- Cleft lip
- Cleft palate
- Coarctation of the aorta - child
- Colonic aganglionosis
- Colonic atresia
- 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
- Deafness
- 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
- Duodenal atresia
- Dysplasia of the hip, developmental
H
- HAEC
- Hemangioma
- Hemophilia
- Hereditary dystopic lipidosis
- Hernia—diaphragmatic
- HIE—newborn
- Hirschprung-Galant infantilism
- Hirschsprung's disease
- Hirschsprung's-associated enterocolitis
- HRHS
- Hole in the heart
- Hunchback
- Huntington's chorea
- Huntington's disease
- Hydrocele
- Hyperkyphosis
- Hypoplastic left heart syndrome
- Hypospadias
- Hypoxic ischemic encephalopathy—newborn
P
- Paralysis, upper extremity
- Perinatal Asphyxia
- 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 atresia
- Pyloric stenosis
S
- SCD
- Scheuermann's kyphosis
- Schilder’s disease
- Seconary lymphedema
- Septal defects
- SGA
- SHE
- SSHL
- Sickle cell anemia
- Sickle cell disease
- Single ventricle anomalies - child
- Single ventricle defect - child
- Single ventricle lesions - child
- Sinus headache
- Small for Gestational Age
- Spina bifida
- Steely hair disease
- Stenosis, aortic - child
- Subependymal germinal matrix hemorrhage
- Sudanophilic leukodystrophy
- Sudden sensorineural hearing loss
- Syndrome, central cervical cord
- Syndrome, central cord
T
- TAPVC - child
- TAPVD - child
- TAPVR - child
- Tay-Sachs disease
- TCS
- Tethered cord syndrome
- Tethered spinal cord syndrome
- Tetralogy of Fallot
- Thrombotic thrombocytopenic purpura
- Tongue-tie
- Total anomalous pulmonary venous connnection—child
- Total anomalous pulmonary venous drainage—child
- Total anomalous pulmonary venous return—child
- Tracheomalacia
- Trichopoliodystrophy
- Tricuspid atresia—child
- Tricuspid regurgitation
- Tricuspid stenosis
- Tricuspid valve disease
- Trisomy 21
- Truncus arteriosus—child
- TTP
- Turner syndrome
- Type II Chiari Malformation