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Conditions and Diseases – Birth Defects

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 A B C D E F G H I K L M N O P R S T U V W X

47 XXY syndrome

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

Batten disease
Birth marks
Brachial plexus palsy

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 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

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

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

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

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

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

Klinefelter syndrome
Kyphosis

Lymphedema

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

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

Oral-facial clefts
Osteogenesis imperfecta

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

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

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

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

Umbilical hernia
Undescended testes
Upper extremity paralysis
Ureteral reflux - child

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

Wilson's disease

X-linked adrenoleukodystrophy