Phenotypes associated with the disease Brachydactylous dwarfism, Mseleni type (ORPHA:2619):
- Platyspondyly (HP:0000926): A flattened vertebral body shape with reduced distance between the vertebral endplates. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:2619)
- Osteopenia (HP:0000938): Osteopenia is a term to define bone density that is not normal but also not as low as osteoporosis. By definition from the World Health Organization osteopenia is defined by bone densitometry as a T score -1 to -2.5. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:2619)
- Short toe (HP:0001831): A toe that appears disproportionately short compared to the foot. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:2619)
- Multiple epiphyseal dysplasia (HP:0002654). Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:2619)
- Arthralgia (HP:0002829): Joint pain. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:2619)
- Abnormality of the ankle (HP:0003028): An anomaly of the joint that connects the foot with the leg. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:2619)
- Abnormal femoral head morphology (HP:0003368): An abnormality of the femoral head. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:2619)
- Severe short stature (HP:0003510): A severe degree of short stature, more than -4 SD from the mean corrected for age and sex. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:2619)
- Knee osteoarthritis (HP:0005086). Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:2619)
- Brachytelomesophalangy (HP:0005872): Disproportionately short middle and distal phalanges compared to the hand/foot. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:2619)
- Hip osteoarthritis (HP:0008843). Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:2619)
- Limitation of joint mobility (HP:0001376): A reduction in the freedom of movement of one or more joints. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:2619)
- Abnormality of the wrist (HP:0003019): Abnormality of the wrist, the structure connecting the hand and the forearm. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:2619)
- Osteoarthritis of the elbow (HP:0003940). Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:2619)
- Stiff shoulders (HP:0009742): Shoulder joint stiffness is a perceived sensation of tightness in shoulders when attempting to move them after a period of inactivity. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:2619)
- Joint subluxation (HP:0032153): A partial dislocation of a joint. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:2619)
- Protrusio acetabuli (HP:0003179): Intrapelvic bulging of the medial acetabular wall. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:2619)
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:2619)
- Increased inflammatory response (HP:0012649): A abnormal increase in the inflammatory response to injury or infection. Evidence: TAS. (ORPHA:2619)