Phenotypes associated with the disease Fibular aplasia-complex brachydactyly syndrome (ORPHA:2639):
- Narrow nasal bridge (HP:0000446): Decreased width of the bony bridge of the nose. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:2639)
- Brachydactyly (HP:0001156): Digits that appear disproportionately short compared to the hand/foot. The word brachydactyly is used here to describe a series distinct patterns of shortened digits (brachydactyly types A-E). This is the sense used here. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:2639)
- Abnormal thumb morphology (HP:0001172): An abnormal structure of the first digit of the hand. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:2639)
- Limitation of joint mobility (HP:0001376): A reduction in the freedom of movement of one or more joints. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:2639)
- Abnormal morphology of the radius (HP:0002818): An abnormality of the radius. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:2639)
- Micromelia (HP:0002983): The presence of abnormally small extremities. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:2639)
- Abnormal tibia morphology (HP:0002992): Abnormality of the tibia (shinbone). Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:2639)
- Abnormal hip bone morphology (HP:0003272): An abnormality of the hip bone. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:2639)
- 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: Very frequent (HP:0040281). (ORPHA:2639)
- Synostosis of carpal bones (HP:0005048). Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:2639)
- Abnormal epiphysis morphology (HP:0005930): An anomaly of epiphysis, which is the expanded articular end of a long bone that developes from a secondary ossification center, and which during the period of growth is either entirely cartilaginous or is separated from the shaft by a cartilaginous disk. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:2639)
- Aplasia/Hypoplasia of the fibula (HP:0006492): Absence or underdevelopment of the fibula. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:2639)
- Bilateral single transverse palmar creases (HP:0007598): The distal and proximal transverse palmar creases are merged into a single transverse palmar crease on both hands. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:2639)
- Tarsal synostosis (HP:0008368): Synostosis (bony fusion) involving one or more bones of the tarsus (calcaneus, talus, cuboid, navicular, cuneiiform bones). Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:2639)
- Abnormal morphology of ulna (HP:0040071): Any structural anomaly of the ulna, a bone of the forearm the extends from the elbow to the little finger. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:2639)