- 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:968)
- Joint stiffness (HP:0001387): Joint stiffness is a perceived sensation of tightness in a joint or joints when attempting to move them after a period of inactivity. Joint stiffness typically subsides over time. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:968)
- Abnormal speech pattern (HP:0002167): An abnormality in the sound (volume) or cadence (rate) of speech. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:968)
- Abnormal pelvic girdle bone morphology (HP:0002644): An abnormality of the bony pelvic girdle, which is a ring of bones connecting the vertebral column to the femurs. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:968)
- Scoliosis (HP:0002650): The presence of an abnormal lateral curvature of the spine. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:968)
- Hip dislocation (HP:0002827): Displacement of the femur from its normal location in the hip joint. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:968)
- Patellar dislocation (HP:0002999): The kneecap normally is located within the groove termed trochlea on the distal femur and can slide up and down in it. Patellar dislocation occurs if the patella fully dislocates out of the groove. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:968)
- Abnormality of the ankle (HP:0003028): An anomaly of the joint that connects the foot with the leg. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:968)
- Elbow dislocation (HP:0003042): Dislocation of the distal humerus out of the elbow joint, where the radius, ulna, and humerus meet. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:968)
- Acromesomelia (HP:0003086): Small hands and feet. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:968)
- Cuboidal metacarpal (HP:0006011): Severely shortened metacarpal with a cuboidal appearance. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:968)
- Abnormally shaped carpal bones (HP:0006014). Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:968)
- 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:968)
- 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:968)
- Severe short-limb dwarfism (HP:0008890). Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:968)
- Short thumb (HP:0009778): Hypoplasia (congenital reduction in size) of the thumb. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:968)
- Short metacarpal (HP:0010049): Diminished length of one or more metacarpal bones in relation to the others of the same hand or to the contralateral metacarpal. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:968)
- Cognitive impairment (HP:0100543): Abnormal cognition is characterized by deficits in thinking, reasoning, or remembering. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:968)
These phenotypes are associated with the disease Acromesomelic dysplasia, Hunter-Thompson type (ORPHA:968).