Phenotypes associated with the disease Short stature-advanced bone age-early-onset osteoarthritis syndrome (ORPHA:435804):
- 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: Frequent (HP:0040282). (ORPHA:435804)
- Developmental stagnation (HP:0007281): A cessation of the development of a child in the areas of motor skills, speech and language, cognitive skills, and social and/or emotional skills. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:435804)
- Short thumb (HP:0009778): Hypoplasia (congenital reduction in size) of the thumb. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:435804)
- Midface retrusion (HP:0011800): Posterior positions and/or vertical shortening of the infraorbital and perialar regions, or increased concavity of the face and/or reduced nasolabial angle. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:435804)
- Osteoarthritis (HP:0002758): Degeneration (wear and tear) of articular cartilage, i.e., of the joint surface. Joint degeneration may be accompanied by osteophytes (bone overgrowth), narrowing of the joint space, regions of sclerosis at the joint surface, or joint deformity. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:435804)