- Abnormal foot morphology (HP:0001760): An abnormality of the skeleton of foot. Evidence: IEA. (OMIM:605274)
- Abnormality of the hand (HP:0001155): An abnormality affecting one or both hands. Evidence: PCS. Frequency: 0/3. (PMID:26032025)
- Congenital onset (HP:0003577): A phenotypic abnormality that is present at birth. Evidence: PCS. Frequency: 3/3. (PMID:26032025)
- Fibular hypoplasia (HP:0003038): Underdevelopment of the fibula. Evidence: PCS. Frequency: 1/3. (PMID:26032025)
- Delayed closure of the anterior fontanelle (HP:0001476): A delay in closure (ossification) of the anterior fontanelle, which generally undergoes closure around the 18th month of life. Evidence: IEA. (OMIM:605274)
- Limited elbow extension and supination (HP:0005852). Evidence: PCS. Frequency: 1/3. (PMID:26032025)
- 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: PCS. Frequency: 3/3. (PMID:26032025)
- Talipes equinovalgus (HP:0001772): A deformity of foot and ankle in which the foot is bent down and outwards. Evidence: PCS. Frequency: 1/3. (PMID:26032025)
- Short forearm (HP:0005773): Underdevelopment of both forearm bones, the ulna and the radius, resulting in a shortened forearm. Evidence: PCS. Frequency: 1/3. (PMID:26032025)
- Fibular aplasia (HP:0002990): Absence of the fibula. Evidence: PCS. Frequency: 2/3. (PMID:26032025)
- Global developmental delay (HP:0001263): A delay in the achievement of motor or mental milestones in the domains of development of a child, including motor skills, speech and language, cognitive skills, and social and emotional skills. This term should only be used to describe children younger than five years of age. Evidence: PCS. Frequency: 1/3. (PMID:26032025)
- Hypoplastic pubic bone (HP:0003173): Underdevelopment of the pubis, which together with the ilium and the ischium, is one of the three bones that make up the hip bone. Evidence: PCS. Frequency: 1/3. (PMID:26032025)
- Dislocated radial head (HP:0003083): A dislocation of the head of the radius from its socket in the elbow joint. Evidence: PCS. Frequency: 1/3. (PMID:26032025)
- Anterior tibial bowing (HP:0006390): An abnormal anterior bending or curvature of the tibia. Evidence: PCS. Frequency: 1/3. (PMID:26032025)
- Hip dislocation (HP:0002827): Displacement of the femur from its normal location in the hip joint. Evidence: PCS. Frequency: 2/3. (PMID:26032025)
- Absent tibia (HP:0009556): Absence of the tibia. Evidence: PCS. Frequency: 1/3. (PMID:26032025)
- Short tibia (HP:0005736): Underdevelopment (reduced size) of the tibia. Evidence: PCS. Frequency: 2/3. (PMID:26032025)
- Supernumerary nipple (HP:0002558): Presence of more than two nipples. Evidence: PCS. Frequency: 1/3. (PMID:26032025)
- 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:26032025)
- Mesomelic leg shortening (HP:0004987): Shortening of the middle parts of the leg in relation to the upper and terminal segments. Evidence: PCS. Frequency: 2/3. (PMID:26032025)
These phenotypes are associated with the disease mesomelic dysplasia, Savarirayan type (OMIM:605274).