Congenital Absence of the Sternocleidomastoid Muscle
congenital adrenal hyperplasia +
congenital adrenal insufficiency
congenital afibrinogenemia +
congenital amegakaryocytic thrombocytopenia +
congenital aphakia
congenital bilateral absence of vas deferens +
congenital bile acid synthesis defect +
congenital central hypoventilation syndrome +
congenital chylothorax
congenital contractural arachnodactyly
congenital diaphragmatic hernia +
congenital diarrhea +
congenital disorder of glycosylation +
congenital epulis
congenital fibrosarcoma
congenital fibrosis of the extraocular muscles +
Congenital Foot Deformities +
congenital generalized lipodystrophy +
congenital granular cell tumor
congenital heart block +
CONGENITAL HEART DEFECTS AND SKELETAL MALFORMATIONS SYNDROME
congenital heart disease +
congenital hemolytic anemia +
congenital hereditary endothelial dystrophy of cornea
Congenital Hip Dislocation +
congenital hypogammaglobulinemia
congenital hypoplastic anemia +
congenital hypothyroidism +
congenital hypotrichosis with juvenile macular dystrophy
congenital intrinsic factor deficiency
congenital lactase deficiency
congenital leptin deficiency
Congenital Limb Deformities +
congenital megabladder
congenital mesoblastic nephroma +
congenital mirror movement disorder +
congenital muscular dystrophy +
congenital myasthenic syndrome +
congenital myopathy 4A +
congenital nervous system abnormality +
congenital nystagmus +
congenital ptosis +
congenital stationary night blindness +
congenital stromal corneal dystrophy
congenital structural myopathy +
congenital sucrase-isomaltase deficiency
congenital syphilis +
congenital toxoplasmosis
Craniofacial Abnormalities +
cryptophthalmia +
Diverticulosis of Bowel, Hernia, and Retinal Detachment
epidermolysis bullosa with congenital localized absence of skin and deformity of nails
Female Pseudohermaphroditism with Skeletal Anomalies
Femoral Hernia
Funnel Chest +
gastroschisis +
A congenital defect with major fissure in the ABDOMINAL WALL lateral to, but not at, the UMBILICUS. This results in the extrusion of VISCERA. Unlike OMPHALOCELE, herniated structures in gastroschisis are not covered by a sac or PERITONEUM.
Hajdu-Cheney syndrome
hypospadias +
IMAGAWA-MATSUMOTO SYNDROME
Immunoskeletal Dysplasia with Neurodevelopmental Abnormalities
imperforate anus +
inguinal hernia +
Intellectual Developmental Disorder with Nasal Speech, Dysmorphic Facies, and Variable Skeletal Anomalies
INTELLECTUAL DEVELOPMENTAL DISORDER WITH SHORT STATURE AND VARIABLE SKELETAL ANOMALIES
Iridogoniodysgenesis and Skeletal Anomalies
Kleefstra syndrome 2
Klippel-Feil syndrome +
large congenital melanocytic nevus
laryngomalacia +
Leber congenital amaurosis +
lethal congenital contracture syndrome +
lethal congenital glycogen storage disease of heart
Meckel's diverticulum
microcephaly, short stature, and limb abnormalities