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DefinitionAchondrogenesis is a group of severe? disorders that affect the cartilage? and bone development. These conditions are characterized by a small body, short limbs, and other skeletal...
DefinitionAchondrogenesis is a very rare genetic? bone growth disorder. It starts before birth. In this condition, the baby’s skeleton does not form normally. The bones are...
DefinitionAchondroplasia is the most commonly occurring abnormality? of bone growth (skeletal dysplasia), occurring in approximately 1 in 20,000-30,000 live births. This genetic? disorder is caused by...
DefinitionAchondroplasia is a genetic? bone growth condition. It mainly affects the long bones of the arms and legs. The word means “without cartilage? growth,” but the...
DefinitionAchromatopsia Type 3 is a rare eye condition that you are born with. It happens because of changes (mutations) in a gene called CNGB3. This gene...
DefinitionAcid sphingomyelinase deficiency (ASMD) is a rare progressive genetic? disorder that results from a deficiency of the enzyme acid sphingomyelinase, which is required to break down...
DefinitionThe methylmalonic acidemias are organic acidemias caused by an enzymatic defect in the metabolism of four amino acids (methionine, threonine, isoleucine, and valine). This results in...
DefinitionAckerman fused molar root syndrome? (often called Ackerman syndrome) is a very rare, inherited? condition in which the back teeth (molars) develop unusual root shapes—for example,...
DefinitionAckerman syndrome? most commonly refers to an extremely rare, inherited? developmental (congenital?) condition that affects the teeth, lips/philtrum (the groove under the nose), eyes, and hands. Typical...
DefinitionAn acoustic neuroma is a type of non-cancerous (benign?) brain tumor?. It’s also known as a vestibular schwannoma. A benign brain tumor is a growth in the...
DefinitionAcquired adult-onset? immunodeficiency? means a person who was healthy as a child now develops a weak immune system later in life. “Acquired” means it happens after...
