Phenotypes associated with the disease Eiken syndrome (ORPHA:79106):
- Epiphyseal dysplasia (HP:0002656). Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:79106)
- Arthralgia (HP:0002829): Joint pain. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:79106)
- Limited elbow flexion (HP:0006376). Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:79106)
- Broad palm (HP:0001169): For children from birth to 4 years of age the palm width is more than 2 SD above the mean; for children from 4 to 16 years of age the palm width is above the 95th centile; or, the width of the palm appears disproportionately wide for the length. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:79106)
- Abnormal fingertip morphology (HP:0001211): An abnormal structure of the tip (end) of a finger. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:79106)
- Broad foot (HP:0001769): A foot for which the measured width is above the 95th centile for age; or, a foot that appears disproportionately wide for its length. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:79106)
- Short foot (HP:0001773): A measured foot length that is more than 2 SD below the mean for a newborn of 27 - 41 weeks gestation, or foot that is less than the 3rd centile for individuals from birth to 16 years of age (objective). Alternatively, a foot that appears disproportionately short (subjective). Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:79106)
- Short toe (HP:0001831): A toe that appears disproportionately short compared to the foot. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:79106)
- Delayed epiphyseal ossification (HP:0002663). Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:79106)
- Thin bony cortex (HP:0002753): Abnormal thinning of the cortical region of bones. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:79106)
- Cubitus valgus (HP:0002967): Abnormal positioning in which the elbows are turned out. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:79106)
- Metaphyseal irregularity (HP:0003025): Irregularity of the normally smooth surface of the metaphyses. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:79106)
- Fibular hypoplasia (HP:0003038): Underdevelopment of the fibula. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:79106)
- Abnormal acetabulum morphology (HP:0003170): An abnormality of the acetabulum, i.e., the Acetabular part of hip bone, which together with the head of the femur forms the hip joint. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:79106)
- Narrow pelvis bone (HP:0003275): Reduced side to side width of the pelvis. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:79106)
- Short palm (HP:0004279): Short palm. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:79106)
- Short stature (HP:0004322): A height below that which is expected according to age and gender norms. Although there is no universally accepted definition of short stature, many refer to "short stature" as height more than 2 standard deviations below the mean for age and gender (or below the 3rd percentile for age and gender dependent norms). Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:79106)
- 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:79106)
- High iliac wing (HP:0008808): Increased height of the wing (or ala) of the ilium (which is the large expanded portion which bounds the greater pelvis laterally). Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:79106)
- Short phalanx of finger (HP:0009803): Short (hypoplastic) phalanx of finger, affecting one or more phalanges. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:79106)
- Absence of the sacrum (HP:0010305): Absence (aplasia) of the sacrum. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:79106)
- Abnormal bone ossification (HP:0011849): Any anomaly in the formation of bone or of a bony substance, or the conversion of fibrous tissue or of cartilage into bone or a bony substance. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:79106)
- Abnormal trabecular bone morphology (HP:0100671): Abnormal structure or form of trabecular bone. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:79106)