Phenotypes associated with the disease Isolated proximal femoral focal deficiency (ORPHA:633228):
- Aplasia/hypoplasia of the femur (HP:0005613): Absence or underdevelopment of the femur. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:633228)
- Aplasia/Hypoplasia involving the femoral head and neck (HP:0009108). Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:633228)
- Short fetal femur length (HP:0011428): A short femur length is defined as either a measurement below the 2.5th percentile for gestational age or a measurement that is less than 0.9 of that predicted by the measured biparietal diameter. The femur should be measured with the bone perpendicular to the ultrasound beam and with epiphyseal cartilages visible but not included in the measurement (PMID:16100637). Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:633228)
- Lower limb asymmetry (HP:0100559): A difference in length or diameter between the left and right leg. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:633228)
- Limited hip movement (HP:0008800): A decreased ability to move the femur at the hip joint associated with a decreased range of motion of the hip. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:633228)
- Limitation of knee mobility (HP:0010501): An abnormal limitation of knee joint mobility. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:633228)
Not associated with this disease:
- Maternal diabetes (HP:0009800): Maternal diabetes can either be a gestational, mostly type 2 diabetes, or a type 1 diabetes. Essential is the resulting maternal hyperglycemia as a non-specific teratogen, imposing the same risk of congenital malformations to pregnant women with both type 1 and type2 diabetes. Evidence: TAS. (ORPHA:633228)