- Talipes equinovarus (HP:0001762): Talipes equinovarus (also called clubfoot) typically has four main components: inversion and adduction of the forefoot; inversion of the heel and hindfoot; equinus (limitation of extension) of the ankle and subtalar joint; and internal rotation of the leg. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:93394)
- Short middle phalanx of the 5th finger (HP:0004220): Hypoplastic/small middle phalanx of the fifth finger. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:93394)
- 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: Frequent (HP:0040282). (ORPHA:93394)
- Shortening of all middle phalanges of the toes (HP:0006239): Abnormal shortening of all middle phalanges of toes. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:93394)
- Short middle phalanx of the 2nd finger (HP:0009577): Hypoplasia (congenital reduction in size) of the middle phalanx of the second finger, also known as the index finger. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:93394)
- Finger symphalangism (HP:0009700): An abnormal union between bones or parts of bones of the fingers. The synonymous term "symphalangism of the hand" may be translated as fusions of bones of varying digree, that involve at least one phalangeal bone of the hand. If bony fusions are referred to as "Symphalangism" the fusion occurs in a proximo-distal axis. Fusions of bones of the fingers in a radio-ulnar axis are referred to as "bony" Syndactyly. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:93394)
These phenotypes are associated with the disease Brachydactyly type A4 (ORPHA:93394).