- Talipes equinovalgus (HP:0001772): A deformity of foot and ankle in which the foot is bent down and outwards. Evidence: IEA. Frequency: Occasional (HP:0040283). (OMIM:113100)
- 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: IEA. Frequency: Frequent (HP:0040282). (OMIM:113100)
- 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: PCS. (PMID:28391997)
- Short middle phalanx of the 5th finger (HP:0004220): Hypoplastic/small middle phalanx of the fifth finger. Evidence: PCS. Frequency: 2/3. (PMID:28391997)
- Short 3rd finger (HP:0009461): Hypoplastic/small 3rd (middle) finger. Evidence: IEA. Frequency: Very frequent (HP:0040281). (OMIM:113100)
- Ulnar deviation of the 3rd finger (HP:0009463): Displacement of the 3rd finger towards the ulnar side (i.e., towards the ring finger). Evidence: IEA. Frequency: Frequent (HP:0040282). (OMIM:113100)
- Short 1st metacarpal (HP:0010034): A developmental defect characterized by reduced length of the first metacarpal (long bone) of the hand. Evidence: PCS. Frequency: 1/3. (PMID:28391997)
- Ulnar deviation of the 2nd finger (HP:0009464): Displacement of the 2nd (index) finger towards the ulnar side. Evidence: PCS. Frequency: 2/3. (PMID:28391997)
- Enlarged epiphysis of the middle phalanx of the 3rd finger (HP:0009324): Abnormally large size of the epiphysis located at the proximal end of the middle phalanx of the 3rd finger with respect to age-dependent norms. Evidence: IEA. Frequency: Frequent (HP:0040282). (OMIM:113100)
- Triangular shaped proximal phalanx of the 2nd finger (HP:0009587): Triangular shaped proximal phalanx of the 2nd finger. A triangular or so called delta shaped phalanx is a typical result after a bracket epiphysis of the affected phalanx. Evidence: IEA. Frequency: Frequent (HP:0040282). (OMIM:113100)
- Triangular epiphysis of the middle phalanx of the 2nd finger (HP:0009523). Evidence: IEA. Frequency: Frequent (HP:0040282). (OMIM:113100)
- Enlarged epiphysis of the proximal phalanx of the 3rd finger (HP:0009349): Abnormally large size of the epiphysis located at the proximal end of the proximal phalanx of the 3rd finger with respect to age-dependent norms. Evidence: IEA. Frequency: Frequent (HP:0040282). (OMIM:113100)
- Enlarged epiphysis of the proximal phalanx of the 2nd finger (HP:0009527). Evidence: IEA. Frequency: Frequent (HP:0040282). (OMIM:113100)
- Hypersegmentation of proximal phalanx of third finger (HP:0011929): Presence of an additional phalanx-like bone, producing an extra, wedge-shaped bone at the base of the proximal phalanx of the third finger. Evidence: TAS. (OMIM:113100)
- 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: IEA. Frequency: Occasional (HP:0040283). (OMIM:113100)
- Delayed skeletal maturation (HP:0002750): A decreased rate of skeletal maturation. Delayed skeletal maturation can be diagnosed on the basis of an estimation of the bone age from radiographs of specific bones in the human body. Evidence: PCS. Frequency: 1/2. (PMID:28391997)
- Postaxial hand polydactyly (HP:0001162): Supernumerary digits located at the ulnar side of the hand (that is, on the side with the fifth finger). Evidence: PCS. Frequency: 1/3. Onset: Congenital onset (HP:0003577). (PMID:28391997)
- Madelung deformity (HP:0003067): An anomaly related to partial closure, or failure of development of the ulnar side of the distal radial growth plate, which results in an arrest of epiphyseal growth of the medial and volar portions of the distal radius. This leads to shortening of the radius and relative overgrowth of the ulna. Evidence: TAS. (OMIM:113100)
- Cone-shaped epiphyses of the middle phalanges of the hand (HP:0010259). Evidence: IEA. Frequency: Very frequent (HP:0040281). (OMIM:113100)
- Triangular epiphysis of the middle phalanx of the 3rd finger (HP:0009331): A triangular appearance of the epiphysis of the middle phalanx of the 3rd finger of the hand. This epiphysis is located at the proximal end of the phalanx and is normally nearly flat. Evidence: IEA. Frequency: Frequent (HP:0040282). (OMIM:113100)
- Pseudoepiphysis of the 2nd finger (HP:0009495): A secondary ossification center in the second finger that is distinct from the normal epiphysis that does not contribute to the longitudinal growth of a tubular bone. Evidence: IEA. Frequency: Very frequent (HP:0040281). (OMIM:113100)
- Triangular shaped middle phalanx of the 2nd finger (HP:0009575): Triangular shaped middle phalanx of the 2nd finger. A triangular or so called delta shaped phalanx is a typical result after a bracket epiphysis of the affected phalanx. Evidence: IEA. Frequency: Frequent (HP:0040282). (OMIM:113100)
- Angel-shaped phalanx (HP:0032078): A phalangeal malformation that is termed angel-shaped phalanx (ASP), because of its resemblance to the angels used for decoration of Christmas trees. The various components of an angel-shaped phalanx are: diaphyseal cuff (wings), surrounding a meta-diaphyseal core (body), which may appear empty or structured with a cone-shaped epiphysis (skirt) and pseudoepiphysis (head). Evidence: PCS. Frequency: 1/3. (PMID:28391997)
- Triangular shaped proximal phalanx of the 3rd finger (HP:0009456): Triangular shaped proximal phalanx of the 3rd (middle) finger. A triangular or so called delta shaped phalanx is a typical result after a bracket epiphysis of the affected phalanx. Evidence: IEA. Frequency: Frequent (HP:0040282). (OMIM:113100)
- 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: IEA. Frequency: 2/3. (PMID:28391997)
- Triangular epiphysis of the proximal phalanx of the 3rd finger (HP:0009356): A triangular appearance of the epiphysis of the proximal phalanx of the 3rd finger of the hand. This epiphysis is located at the proximal end of the phalanx and is normally nearly flat. Evidence: IEA. Frequency: Frequent (HP:0040282). (OMIM:113100)
- Triangular shaped middle phalanx of the 3rd finger (HP:0009436): Triangular shaped middle phalanx of the 3rd (middle) finger. A triangular or so called delta shaped phalanx is a typical result after a bracket epiphysis of the affected phalanx. Evidence: IEA. Frequency: Frequent (HP:0040282). (OMIM:113100)
- Triangular epiphysis of the proximal phalanx of the 2nd finger (HP:0009534). Evidence: PCS. Frequency: 2/3. (PMID:28391997)
- Clinodactyly of the 5th finger (HP:0004209): Clinodactyly refers to a bending or curvature of the fifth finger in the radial direction (i.e., towards the 4th finger). Evidence: IEA. Frequency: Frequent (HP:0040282). (OMIM:113100)
- Short 2nd finger (HP:0009536): Hypoplasia of the second finger, also known as the index finger. Evidence: IEA. Frequency: Very frequent (HP:0040281). (OMIM:113100)
- Autosomal dominant inheritance (HP:0000006): A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in heterozygotes. In the context of medical genetics, an autosomal dominant disorder is caused when a single copy of the mutant allele is present. Males and females are affected equally, and can both transmit the disorder with a risk of 50% for each child of inheriting the mutant allele. Evidence: PCS. (PMID:9288091)
- Pseudoepiphyses of the 3rd finger (HP:0009417): A secondary ossification center in the third finger that is distinct from the normal epiphysis that does not contribute to the longitudinal growth of a tubular bone. Evidence: IEA. Frequency: Very frequent (HP:0040281). (OMIM:113100)
- Hypersegmentation of proximal phalanx of second finger (HP:0006206): Presence of an additional phalanx-like bone, producing an extra, wedge-shaped bone at the base of the proximal phalanx of the second finger. Evidence: TAS. (OMIM:113100)
- Enlarged epiphysis of the middle phalanx of the 2nd finger (HP:0009516). Evidence: IEA. Frequency: Frequent (HP:0040282). (OMIM:113100)
- Short middle phalanx of the 3rd finger (HP:0009439): Hypoplasia (congenital reduction in size) of the middle phalanx of the third finger. Evidence: PCS. Frequency: 2/3. (PMID:28391997)
These phenotypes are associated with the disease brachydactyly type C (OMIM:113100).