Phenotypes associated with the disease Isolated acheiropodia (ORPHA:931):
- Abnormal metaphysis morphology (HP:0000944): An abnormality of one or more metaphysis, i.e., of the somewhat wider portion of a long bone that is adjacent to the epiphyseal growth plate and grows during childhood. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:931)
- Fibular aplasia (HP:0002990): Absence of the fibula. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:931)
- Absent radius (HP:0003974): Missing radius bone associated with congenital failure of development. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:931)
- Aplasia of the ulna (HP:0003982): Missing ulna bone associated with congenital failure of development. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:931)
- Absent hand (HP:0004050): The total absence of the hand, with no bony elements distal to the radius or ulna. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:931)
- Short humerus (HP:0005792): Underdevelopment of the humerus. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:931)
- 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:931)
- Upper limb phocomelia (HP:0009813): Missing or malformed long bones of the upper limbs with the distal parts (the hands) connected to the variably shortened or even absent upper extremity, leading to a flipper-like appearance, as opposed to other forms of limb malformations were either the whole limb is missing (such as amelia), or the distal part of a limb is absent (peromelia). Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:931)