- Wrist swelling (HP:0001225). Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:2848)
- Camptodactyly of toe (HP:0001836): Camptodactyly is a painless flexion contracture of the proximal interphalangeal (PIP) joint that is usually gradually progressive. This term refers to camptodactyly of one or more toes. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:2848)
- Coxa vara (HP:0002812): Coxa vara includes all forms of decrease of the femoral neck shaft angle (the angle between the neck and the shaft of the femur) to less than 120 degrees. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:2848)
- Lumbar hyperlordosis (HP:0002938): An abnormal accentuation of the inward curvature of the spine in the lumbar region. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:2848)
- Osteoarthritis of the elbow (HP:0003940). Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:2848)
- Knee osteoarthritis (HP:0005086). Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:2848)
- Polyarticular arthropathy (HP:0005195). Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:2848)
- Flattened femoral head (HP:0008812): An abnormally flattened femoral head. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:2848)
- Camptodactyly of finger (HP:0100490): The distal interphalangeal joint and/or the proximal interphalangeal joint of the fingers cannot be extended to 180 degrees by either active or passive extension. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:2848)
- Osteoporosis (HP:0000939): Osteoporosis is a systemic skeletal disease characterized by low bone density and microarchitectural deterioration of bone tissue with a consequent increase in bone fragility. According to the WHO criteria, osteoporosis is defined as a BMD that lies 2.5 standard deviations or more below the average value for young healthy adults (a T-score below -2.5 SD). Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:2848)
- Bone cyst (HP:0012062): A fluid filled cavity that develops with a bone. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:2848)
- Short femoral neck (HP:0100864): An abnormally short femoral neck (which is the process of bone, connecting the femoral head with the femoral shaft). Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:2848)
- Mitral valve prolapse (HP:0001634): One or both of the leaflets (cusps) of the mitral valve bulges back into the left atrium upon contraction of the left ventricle. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:2848)
- Mitral regurgitation (HP:0001653): An abnormality of the mitral valve characterized by insufficiency or incompetence of the mitral valve resulting in retrograde leaking of blood through the mitral valve upon ventricular contraction. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:2848)
- Pericarditis (HP:0001701): Inflammation of the sac-like covering around the heart (pericardium). Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:2848)
- Pleuritis (HP:0002102): Inflammation of the pleura. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:2848)
- Ascites (HP:0001541): Accumulation of fluid in the peritoneal cavity (between the layers of the peritoneum that lines the abdomen). Evidence: TAS. Frequency: Very rare (HP:0040284). (ORPHA:2848)
- Infantile sensorineural hearing impairment (HP:0008610): A form of sensorineural hearing impairment with infantile onset. Evidence: TAS. Frequency: Very rare (HP:0040284). (ORPHA:2848)
- Nuclear cataract (HP:0100018): A nuclear cataract is an opacity or clouding that develops in the lens nucleus. That is, a nuclear cataract is one that is located in the center of the lens. The nucleus tends to darken changing from clear to yellow and sometimes brown. Evidence: TAS. Frequency: Very rare (HP:0040284). (ORPHA:2848)
These phenotypes are associated with the disease Camptodactyly-arthropathy-coxa-vara-pericarditis syndrome (ORPHA:2848).
The following phenotypes are NOT associated with this disease:
- Autoimmunity (HP:0002960): The occurrence of an immune reaction against the organism's own cells or tissues. Evidence: TAS. (ORPHA:2848)
- Acute phase response (HP:0033331): Presence of one or more manifestations of the acute phase response. Acute phase proteins (APP) are blood proteins primarily synthesized by hepatocytes as part of the acute phase response (APR). The APR is part of the early-defense or innate immune system, which is triggered by different stimuli including trauma, infection, stress, neoplasia, and inflammation. The APR results in a complex systemic reaction with the goal of reestablishing homeostasis and promoting healing. Evidence: TAS. (ORPHA:2848)