Omphalocele–cloacal exstrophy–imperforate anus–spinal defect syndrome is usually called OEIS complex. It is a very rare birth condition where a baby is born ...

Wallis-Zieff-Goldblatt syndrome is an extremely rare genetic bone growth problem. It mainly affects the bones near the shoulders and the upper arms, and also ...

McPherson-Clemens syndrome (also called cleft lip/palate–intestinal malrotation–cardiopathy syndrome) is an extremely rare genetic disorder that affects many ...

Zlotogora-Zilberman-Tenenbaum syndrome is an extremely rare genetic condition in which the outer layer of the body (skin, hair, nails, teeth, some glands) and ...

Zlotogora-Ogur syndrome is a very rare genetic disease that mainly affects body parts made from the outer layer of the embryo (the ectoderm), such as skin, ...

Cleft lip/palate-ectodermal dysplasia syndrome is a very rare genetic condition. In this syndrome, a baby is born with a split in the upper lip and/or the roof ...

Lowry-Yong syndrome is a very rare genetic condition that is present from birth and mainly affects the face, hearing system, lower spine, and some bones of the ...

Ausems Wittebol-Post Hennekam syndrome is an extremely rare genetic condition where a child is born with a cleft lip and slowly worsening disease of the ...

4-layered lissencephaly is a “smooth brain” condition where the outer part of the brain (the cerebral cortex) does not form normal folds (gyri) and grooves ...

Classic lissencephaly (also called type 1 lissencephaly) is a rare brain problem that starts before birth, when the baby is still in the womb. In this ...

Hyperhomocysteinemic syndrome means a person has too much homocysteine in the blood, usually above about 15 micromoles per liter (µmol/L). Homocysteine is a ...

Homocystinuria due to cystathionine beta-synthase (CBS) deficiency is a rare genetic disease where the body cannot properly break down the amino acid ...

Homocystinuria caused by cystathionine beta-synthase deficiency is a rare genetic disease. In this condition, the body cannot use an amino acid called ...

Deficiency of serine sulfhydrase means that a special body enzyme called cystathionine-beta-synthase (CBS) does not work properly or is missing. This enzyme ...

Classic homocystinuria is a rare genetic disease where the body cannot break down an amino acid called homocysteine properly because an enzyme named ...

Transferase deficiency galactosemia type 1 (often called classic galactosemia) is a rare genetic disease where the body cannot properly break down a milk sugar ...

Deficiency of hexose-1-phosphate uridylyltransferase means that the body has very low or no activity of an enzyme called galactose-1-phosphate ...

Deficiency of galactose-1-phosphate uridyl transferase (usually written GALT deficiency) is a genetic disease where the body is missing, or has very low ...

Classic galactosemia is a rare genetic disease that affects how the body uses a sugar called galactose, which is found in milk and many milk-based foods. In ...

Classic familial adenomatous polyposis is an inherited disease where a person grows hundreds to thousands of small growths, called polyps, inside the large ...