“NF type 6” (older name) or café-au-lait spots syndrome / familial isolated café-au-lait macules is a skin-only condition. People have several flat, ...
Dr. Samantha A. Vergano, MD - Clinical Genetics, Genomics, Cytogenetics, Biochemical Genetics Specialist.
Multiple Flat Light-Brown Marks on Skin are harmless areas of increased skin pigment (melanin) that look like smooth-edged, flat, light-brown patches. They can ...
Familial isolated café-au-lait macules are flat, light- to dark-brown skin patches that run in families and appear without other signs of a syndrome. ...
Café-au-lait macules (CALMs) are flat, sharply bordered, light- to dark-brown skin patches caused by increased melanin in the epidermis. They are usually ...
Café-au-lait spots (CALMs) are flat, light- to dark-brown skin patches. They look like milk mixed with coffee. They can be round or oval. Edges are smooth or ...
Zellweger-like contiguous gene deletion syndrome is a very rare, inherited condition that affects newborns and young infants. It happens when a small stretch ...
Contiguous ABCD1–DXS1357E deletion syndrome (CADDS) is a very rare X-linked genetic condition in which a small piece of the X chromosome is missing at the band ...
CADDS stands for Contiguous ABCD1/DXS1357E deletion syndrome. It is a very rare, inherited condition caused by losing (deleting) two neighboring genes on the X ...
C1q deficiency is a very rare inherited immune problem where the body makes too little—or none—of a protein called C1q. C1q is the “starter” of the classical ...
HIKESHI-related hypomyelinating leukodystrophy is a very rare, inherited brain white-matter disease. It happens when both copies of a gene called HIKESHI do ...
C11orf73-related autosomal recessive hypomyelinating leukodystrophy is a rare brain white-matter disease that starts in infancy. In this condition, the fatty ...
C syndrome is also known as Cronkhite–Canada syndrome is a rare disease of the gut in which many non-cancerous polyps grow throughout the stomach and ...
Disseminated Dermatofibrosis with Osteopoikilosis is a rare, inherited disorder that affects the skin and the bones. On the skin, people develop small, firm ...
Dr. Huma Q. Rana, MD - Clinical Genetics, Genomics, Cytogenetics, Biochemical Genetics Specialist
Buschke–Ollendorff syndrome is a rare, inherited condition that affects the skin and the bones. In the skin, people develop small, firm bumps called connective ...
Burkitt leukemia is the leukemic (blood and bone-marrow) form of Burkitt lymphoma, a very fast-growing cancer of B-lymphocytes. In older systems it was called ...
JAK2-related Budd–Chiari syndrome (BCS) means the blood cannot leave the liver properly because the hepatic veins (the veins that drain the liver) or the ...
X-Linked Recessive Brunner Syndrome is a very rare genetic condition. It mostly affects boys and men. It happens when a gene on the X chromosome called MAOA ...
Antisocial behavior means a long-lasting pattern of actions that ignore the rights and feelings of other people and the rules of society. People who show ...
Brunner syndrome is a very rare, X-linked genetic condition in which the MAO-A enzyme does not work properly. MAO-A normally breaks down brain chemicals such ...
PLOD2-Related Bruck Syndrome (Bruck Syndrome Type 2, BRKS2) is a very rare genetic bone disorder where two problems happen together: babies are born with stiff ...
