- Limb undergrowth (HP:0009826): Limb shortening because of underdevelopment of one or more bones of the extremities. Evidence: PCS. Frequency: 5/6. (PMID:33058759)
- Congenital onset (HP:0003577): A phenotypic abnormality that is present at birth. Evidence: PCS. (PMID:33058759)
- Complete atrioventricular canal defect (HP:0001674): A congenital heart defect characterized by a specific combination of heart defects with a common atrioventricular valve, primum atrial septal defect and inlet ventricular septal defect. Evidence: PCS. Onset: Congenital onset (HP:0003577). (PMID:33058759)
- Long face (HP:0000276): Facial height (length) is more than 2 standard deviations above the mean (objective); or, an apparent increase in the height (length) of the face (subjective). Evidence: PCS. Frequency: 1/2. (PMID:33058759)
- Nail dysplasia (HP:0002164): The presence of developmental dysplasia of the nail. Evidence: PCS. Frequency: 3/5. (PMID:33058759)
- 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: PCS. Frequency: 1/2. (PMID:33058759)
- Overhanging nasal tip (HP:0011833): Positioning of the nasal tip inferior to the nasal base. Evidence: PCS. Frequency: 1/2. (PMID:33058759)
- Accessory oral frenulum (HP:0000191): Extra fold of tissue extending from the alveolar ridge to the inner surface of the upper or lower lip. Evidence: PCS. Frequency: 2/2. (PMID:33058759)
- Postaxial polydactyly (HP:0100259): A form of polydactyly in which the extra digit or digits are localized on the side of the fifth finger or fifth toe. Evidence: PCS. Frequency: 8/8. (PMID:33058759)
- Hypoplasia of the maxilla (HP:0000327): Abnormally small dimension of the Maxilla. Usually creating a malocclusion or malalignment between the upper and lower teeth or resulting in a deficient amount of projection of the base of the nose and lower midface region. Evidence: PCS. Frequency: 1/2. (PMID:33058759)
- Atrioventricular canal defect (HP:0006695): A defect of the atrioventricular septum of the heart. Evidence: PCS. Onset: Congenital onset (HP:0003577). (PMID:33058759)
- Long thorax (HP:0100818): Increased inferior to superior extent of the thorax. Evidence: PCS. Frequency: 2/3. (PMID:33058759)
- Genu valgum (HP:0002857): The legs angle inward, such that the knees are close together and the ankles far apart. Evidence: PCS. Frequency: 2/2. (PMID:33058759)
- Short philtrum (HP:0000322): Distance between nasal base and midline upper lip vermilion border more than 2 SD below the mean. Alternatively, an apparently decreased distance between nasal base and midline upper lip vermilion border. Evidence: PCS. Frequency: 1/2. (PMID:33058759)
- 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:33058759)
- Diastema (HP:0000699): Increased space between two adjacent teeth in the same dental arch. Evidence: PCS. Frequency: 1/3. (PMID:33058759)
- Conical tooth (HP:0000698): An abnormal conical form of the teeth, that is, a tooth whose sides converge or taper together incisally. Evidence: PCS. Frequency: 1/3. (PMID:33058759)
These phenotypes are associated with the disease cardioacrofacial dysplasia 1 (OMIM:619142).