Congenital diaphragmatic hernia, often called CDH, is a birth defect that happens when the diaphragm does not form in the usual way before birth. The diaphragm ...
Dr. Priya Kishnani, MD - Clinical Genetics, Genomics, Cytogenetics, Biochemical Genetics Specialist
Congenital folic acid transport defect usually means hereditary folate malabsorption. This is a very rare inherited disease in which the body cannot move ...
Congenital folate malabsorption, also called hereditary folate malabsorption, is a very rare inherited disease in which the body cannot properly absorb folate ...
Congenital defect of folate absorption is a rare inherited disease in which the body cannot take in folate properly from the intestine and cannot move enough ...
Congenital cystic eyeball, also called congenital cystic eye, is a very rare birth defect in which a cyst forms in the eye socket and the normal eyeball does ...
Congenital anophthalmos with cyst is a very rare birth defect of eye development. In this condition, a child is born without a normally formed eye in the ...
Congenital cystic eye is a very rare birth condition. In this condition, a cyst-like sac grows in the eye socket where the eye should normally form. It happens ...
Distal arthrogryposis type 9 is an old name for congenital contractural arachnodactyly, often shortened to CCA. Many experts now prefer the name congenital ...
Beals-Hecht syndrome, also called congenital contractural arachnodactyly (CCA), is a rare inherited connective tissue disorder. It is usually caused by a ...
Congenital contractural arachnodactyly is a rare genetic connective tissue disorder that mainly affects the bones, joints, muscles, ears, and body shape. ...
Congenital chylothorax means a baby is born with chyle collecting in the space around the lungs, called the pleural space. Chyle is a lymph fluid that carries ...
U12 small nuclear mutation usually means a disease caused by a problem in the minor spliceosome, the small cell machine that removes U12-type introns from RNA ...
Congenital cerebellar ataxia due to RNU12 mutation is a very rare inherited brain disorder. It starts very early in life, often in infancy, and mainly affects ...
Thyrotropin deficiency is also called TSH deficiency, central hypothyroidism, pituitary hypothyroidism, or secondary hypothyroidism. It happens when the ...
Thyroid stimulating hormone deficiency means the pituitary gland does not make enough thyroid stimulating hormone, also called TSH. TSH is the signal that ...
Hypothalamic-pituitary hypothyroidism is usually called central hypothyroidism. It happens when the hypothalamus or the pituitary gland does not send the right ...
Congenital central hypothyroidism means a baby is born with low thyroid hormone because the brain does not send a strong enough signal to the thyroid gland. ...
Congenital cataracts-facial dysmorphism-neuropathy syndrome is a very rare inherited disorder. Doctors also call it CCFDN syndrome or CTDP1-related congenital ...
Congenital cataract-severe neonatal hepatopathy-global developmental delay syndrome is an ultra-rare genetic disorder. In this condition, a baby is born with ...
Myopathy, mitochondrial progressive, with congenital cataract and developmental delay is a very rare inherited mitochondrial disease. It is now often grouped ...
