- Acromesomelic dwarfism
During the first years of life, as the forearms, lower legs, hands, and feet do not grow proportionally with the rest of the body, short stature (short-limb dwarfism) begins to become apparent. Over time, affected individuals may be unable to fully extend the arms, rotate the arms inward toward the body with the palms facing down, or rotate the arms outward with the palms facing upward. In some cases, affected individuals may also experience progressive degeneration, stiffness, tenderness, and pain of the elbows (osteoarthritis).
Abnormalities of cartilage and bone development may also cause the bones within the fingers, toes, hands, and feet to become increasingly shorter and broader during the first years of life. During the second year of life, the growing ends of these bones may begin to appear abnormally shaped like a cone or a square and may fuse prematurely. This causes the fingers and toes to appear short and stubby. The hands and feet may seem unusually short, broad, and square; and the feet may appear abnormally flat. In early childhood, extra, loose skin may also develop over the fingers.
During early childhood, affected individuals may also begin to experience progressive, abnormal curvature of the spine. In rare cases, affected individuals can experience delayed puberty and corneal clouding.
The Human Phenotype Ontology provides the following list of signs and symptoms for Acromesomelic dysplasia. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms.
The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature.
The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined.
Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.
- Acromesomelic dysplasia. National Organization for Rare Disorders (NORD). 2009; http://rarediseases.org/rare-disease-information/rare-diseases/byID/1087/viewAbstract. Accessed 6/28/2011.