congenital disorder
condition present at birth regardless of cause; human disease or disorder developed prior to birth
congenital myopathy
human disease
congenital hypothyroidism
hypothyroidism that is present at birth
urethral stricture
narrowing of the urethra caused by injury, instrumentation, infection and certain non-infectious forms of urethritis
Weaver syndrome
human disease
Vater
Danish name for deformities
congenital absence of vagina
medical condition
atrial heart septal defect
heart septal defect located in the septum that separates the two atria of the heart
congenital heart disease
cardiovascular disease
Klippel-Feil syndrome
physical disorder that has material basis in abnormal segmentation of the vertebra during fetal development which results in fusion located in cervical vertebra
renal-hepatic-pancreatic dysplasia
physical disorder characterized by pancreatic fibrosis, renal dysplasia and hepatic dysgenesis; it is usual fatal soon after birth
Char syndrome
patent ductus arteriosus with facial dysmorphism and abnormal fifth digits
Radial aplasia
congenital defect which affects the formation of the radius bone in the arm
tuberous breasts
medical condition
supernumerary body part
congenital disorder involving the growth of an additional part of the body and a deviation from the body plan
cretinism
human medical condition
Poland syndrome
Human disease
caudal regression syndrome
congenital disorder in humans caused by abnormal fetal development of the lower spine
gastroschisis
birth defect in which the baby's intestines extend outside of the body through a hole next to the belly button.
omphalocele
physical disorder characterized by a defect in the development of the abdominal wall muscles, resulting in the intestines, liver and other organs to remain outside of the abdomen in a sac
branchial cleft cyst
tumor derived from branchial epithelium or branchial rests
Young-Simpson syndrome
Human disease
fetal alcohol spectrum disorders
group of conditions that can occur in a person whose mother drank alcohol during pregnancy
imperforate anus
congenital disorder of digestive system
nervous system malformations
congenital conditions that stem from damage to, or abnormal development of, the budding nervous system
fetal nicotine spectrum disorder
specific developmental disorder that is characterized by physical, behavioral and learning birth defects resulting from maternal ingestion of nicotine during pregnancy
duplicated ureter
human disease
persistent left superior vena cava
medical condition
congenital toxoplasmosis
toxoplasmosis that involves a reactivated infection of the mother transmitted to the fetus during pregnancy
pelvic digit
rare congenital abnormality in humans
pulmonary hypoplasia
congenital disorder of respiratory system
Intrauterine epidermal necrosis
medical condition
transposition
group of congenital defects involving an abnormal spatial arrangement
visceral heterotaxy
rare disease
abdominal wall defect
medical condition
congenital cataract
disorder of lens
congenital syphilis
syphilis that results in a multisystem infection in the fetus via the placenta
esophageal atresia
congenital disorder of digestive system
congenital diaphragmatic hernia
diaphragm disease characterized by the lack of development of all or part of the diaphragm, which results in an abnormal opening that allows the stomach and intestines to move into the chest cavity and crowd the heart and lungs
Bifid penis
congenital defect
congenital bile acid synthesis defect
steroid inherited metabolic disorder characterized by abnormal conversion of cholesterol into bile acids which occurs predominantly in the liver
congenital intrinsic factor deficiency
vitamin B12 deficiency that is characterized by megaloblastic anemia due to the absence of gastric intrinsic factor which results in abnormal vitamin B12 absorption
hand and arm congenital deformity
congenital structural abnormality of the upper extremity
vascular malformation
congenital disease
cleft lip and cleft palate
congenital malformations caused by the failure of embryonic structures of the lip and/or palate to fuse
Proteus syndrome
human disease characterized by an overgrowth of skin, bones, muscles, fatty tissues, and blood and lymphatic vessels
Schindler disease
Rare congenital metabolic disorder in humans.
congenital abnormality
type of congenital disorder
disorder of sex development
medical condition involving the reproductive system