Calabro Syndrome
Calabro syndrome is a very rare birth condition. Babies are born with a combination of features that often include: the skull bones close too early (craniosynostosis), arm or leg differences (limb ...
Rx Autoimmune, Genetic and Rare Diseases (A – Z)
Neurofibromatosis Type 6
“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, light-to-dark brown patches (like “coffee with ...
Multiple Flat Light-Brown Marks on Skin
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 be present at birth or appear in early ...
Familial Isolated Café-Au-Lait Macules (CALMs)
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. “Isolated” means the person only has the spots ...
Autosomal Dominant Café-Au-Lait Spots
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 harmless by themselves and can appear at ...
Café-Au-Lait Spots
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 slightly irregular. The skin feels ...
Zellweger-Like Contiguous Gene Deletion Syndrome
Zellweger-like contiguous gene deletion syndrome is a very rare, inherited condition that affects newborns and young infants. It happens when a small stretch of DNA is missing from the far end of the ...
Contiguous ABCD1–DXS1357E Deletion Syndrome (CADDS)
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 Xq28. The missing piece usually ...
CADDS
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 chromosome: ABCD1 and DXS1357E/BAP31. ...
C1q Deficiency
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 complement pathway, a group of blood ...
HIKESHI-Related Hypomyelinating Leukodystrophy
HIKESHI-related hypomyelinating leukodystrophy is a very rare, inherited brain white-matter disease. It happens when both copies of a gene called HIKESHI do not work properly. The HIKESHI protein ...
C11orf73-Related Autosomal Recessive Hypomyelinating Leukodystrophy
C11orf73-related autosomal recessive hypomyelinating leukodystrophy is a rare brain white-matter disease that starts in infancy. In this condition, the fatty insulation (myelin) around nerve fibers ...
C Syndrome
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 intestines (usually sparing the esophagus). ...
Disseminated Dermatofibrosis with Osteopoikilosis
Disseminated Dermatofibrosis with Osteopoikilosis is a rare, inherited disorder that affects the skin and the bones. On the skin, people develop small, firm bumps called connective tissue nevi. These ...
Buschke-Ollendorff Syndrome
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 tissue nevi (they can be elastin-rich ...
Burkitt Leukemia
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 FAB L3 acute lymphoblastic leukemia, or ...
JAK2-Related Budd–Chiari Syndrome (BCS)
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 nearby inferior vena cava (IVC) are blocked. ...
X-Linked Recessive Brunner Syndrome
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 does not work well. This gene makes an ...
Antisocial Behavior
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 persistent antisocial behavior often lie, ...
Brunner Syndrome
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 as serotonin, dopamine, and ...
