- Congenital onset (HP:0003577): A phenotypic abnormality that is present at birth. Evidence: PCS. Frequency: 4/4. (PMID:22387015)
- Natal tooth (HP:0000695): A tooth present at birth or erupting within the first month of life. Evidence: PCS. Frequency: 1/3. (PMID:22387015)
- 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. (OMIM:614592)
- Bell-shaped thorax (HP:0001591): The rib cage has the shape of a wide mouthed bell. That is, the superior portion of the rib cage is constricted, followed by a convex region, and the inferior portion of the rib cage expands again to have a large diameter. Evidence: TAS. (OMIM:614592)
- Coronal craniosynostosis (HP:0004440): Premature closure of the coronal suture of skull. Evidence: PCS. Frequency: 3/4. (PMID:22387015)
- Decreased calvarial ossification (HP:0005474): Abnormal reduction in ossification of the calvaria (roof of the skull consisting of the frontal bone, parietal bones, temporal bones, and occipital bone). Evidence: PCS. Frequency: 4/4. (PMID:22387015)
- Malar flattening (HP:0000272): Underdevelopment of the malar prominence of the jugal bone (zygomatic bone in mammals), appreciated in profile, frontal view, and/or by palpation. Evidence: TAS. (OMIM:614592)
- 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. (OMIM:614592)
- 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: 4/4. (PMID:22387015)
- Abnormally large globe (HP:0001090): Diffusely large eye (with megalocornea) without glaucoma. Evidence: PCS. Frequency: 3/3. (PMID:22387015)
- Bent long bone (HP:0034530): A developmental defect of a long bone, such as the femur or the humerus, characterized by a sharply curve deviation located in the diaphysis (shaft) of the bone. Evidence: PCS. Frequency: 4/4. (PMID:22387015)
- Hypertelorism (HP:0000316): Interpupillary distance more than 2 SD above the mean (alternatively, the appearance of an increased interpupillary distance or widely spaced eyes). Evidence: PCS. Frequency: 3/3. (PMID:22387015)
- Clitoral hypertrophy (HP:0008665): Hypertrophy of the clitoris. Evidence: PCS. Frequency: 3/3. (PMID:22387015)
- Gingival overgrowth (HP:0000212): Hyperplasia of the gingiva (that is, a thickening of the soft tissue overlying the alveolar ridge. The degree of thickening ranges from involvement of the interdental papillae alone to gingival overgrowth covering the entire tooth crown. Evidence: TAS. (OMIM:614592)
- Hepatosplenomegaly (HP:0001433): Simultaneous enlargement of the liver and spleen. Evidence: TAS. Frequency: Occasional (HP:0040283). (OMIM:614592)
- Short clavicles (HP:0000894): Reduced length of the clavicles. Evidence: PCS. Frequency: 14/14. (PMID:22387015;OMIM:614592)
- 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:22387015)
- Hirsutism (HP:0001007): Abnormally increased hair growth referring to a male pattern of body hair (androgenic hair). Evidence: PCS. Frequency: 3/3. (PMID:22387015)
- Low-set ears (HP:0000369): Upper insertion of the ear to the scalp below an imaginary horizontal line drawn between the inner canthi of the eye and extending posteriorly to the ear. Evidence: TAS. (OMIM:614592)
- Micrognathia (HP:0000347): Developmental hypoplasia of the mandible. Evidence: TAS. (OMIM:614592)
These phenotypes are associated with the disease bent bone dysplasia syndrome 1 (OMIM:614592).