- Split hand (HP:0001171): A condition in which middle parts of the hand (fingers and metacarpals) are missing giving a cleft appearance. The severity is very variable ranging from slightly hypoplastic middle fingers over absent middle fingers as far as oligo- or monodactyl hands. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:2019)
- Abnormal femur morphology (HP:0002823): Any anomaly of the structure of the femur. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:2019)
- Micromelia (HP:0002983): The presence of abnormally small extremities. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:2019)
- Humeroradial synostosis (HP:0003041): An abnormal osseous union (fusion) between the radius and the humerus. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:2019)
- Short humerus (HP:0005792): Underdevelopment of the humerus. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:2019)
- Finger syndactyly (HP:0006101): Webbing or fusion of the fingers, involving soft parts only or including bone structure. Bony fusions are referred to as "bony" Syndactyly if the fusion occurs in a radio-ulnar axis. Fusions of bones of the fingers in a proximo-distal axis are referred to as "Symphalangism". Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:2019)
- Aplasia/Hypoplasia of the radius (HP:0006501): A small/hypoplastic or absent/aplastic radius. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:2019)
- 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:2019)
- Abnormal fibula morphology (HP:0002991): An anomaly of the calf bone (fibula), one of the two bones of the calf. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:2019)
- Abnormality of the elbow (HP:0009811): An anomaly of the joint that connects the upper and the lower arm. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:2019)
- Amelia involving the upper limbs (HP:0009812): Amelia of one or both upper limbs. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:2019)
- Upper limb asymmetry (HP:0100560): Difference in length or size between the right and left arm. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:2019)
- 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: Occasional (HP:0040283). (ORPHA:2019)
- Peromelia (HP:0009828): The distal parts of the limbs are missing leading to a stump formation. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:2019)
These phenotypes are associated with the disease Femur-fibula-ulna complex (ORPHA:2019).