- Arterial fibromuscular dysplasia (HP:0005313): An arterial lesion that is characterized by either intimal fibroplasia, with neointimal lesions of cells and matrix deposition, or medial fibroplasia, in which there is loss of smooth muscle cells and increased deposition of collagen and proteoglycans in the medial layer. Evidence: PCS. Frequency: 4/4. (PMID:32938213)
- Dermal translucency (HP:0010648): An abnormally increased ability of the skin to permit light to pass through (translucency) such that subcutaneous structures such as veins display an increased degree of visibility. Evidence: PCS. Frequency: 1/6. (PMID:32938213)
- Narrow nose (HP:0000460): Interalar distance more than 2 SD below the mean for age, or alternatively, an apparently decreased width of the nasal base and alae. Evidence: PCS. Frequency: 3/6. (PMID:32938213)
- Atrophic scars (HP:0001075): Scars that form a depression compared to the level of the surrounding skin because of damage to the collagen, fat or other tissues below the skin. Evidence: PCS. Frequency: 2/6. (PMID:32938213)
- Celiac artery dissection (HP:0033982): A separation (dissection) of the layers of the celiac artery wall. Evidence: PCS. Frequency: 2/4. (PMID:32938213)
- Tortuous cerebral arteries (HP:0004938): Excessive bending, twisting, and winding of a cerebral artery. Evidence: PCS. Frequency: 3/4. (PMID:32938213)
- Pulmonary artery aneurysm (HP:0004937): An aneurysm (severe localized balloon-like outward bulging) in the pulmonary artery. Evidence: PCS. Frequency: 1/4. (PMID:32938213)
- Dental crowding (HP:0000678): Changes in alignment of teeth in the dental arch. Evidence: PCS. Frequency: 1/6. (PMID:32938213)
- Soft skin (HP:0000977): Subjective impression of increased softness upon palpation of the skin. Evidence: PCS. Frequency: 2/6. (PMID:32938213)
- High palate (HP:0000218): Height of the palate more than 2 SD above the mean (objective) or palatal height at the level of the first permanent molar more than twice the height of the teeth (subjective). Evidence: PCS. Frequency: 1/6. (PMID:32938213)
- Soft, doughy skin (HP:0001027): A skin texture that is unusually soft (and may feel silky), and has a malleable consistency resembling that of dough. Evidence: PCS. Frequency: 2/6. (PMID:32938213)
- Pes planus (HP:0001763): A foot where the longitudinal arch of the foot is in contact with the ground or floor when the individual is standing; or, in a patient lying supine, a foot where the arch is in contact with the surface of a flat board pressed against the sole of the foot by the examiner with a pressure similar to that expected from weight bearing; or, the height of the arch is reduced. Evidence: PCS. Frequency: 2/6. (PMID:32938213)
- Hyperextensible skin (HP:0000974): A condition in which the skin can be stretched beyond normal, and then returns to its initial position. Evidence: PCS. Frequency: 3/6. (PMID:32938213)
- Hiatus hernia (HP:0002036): The presence of a hernia in which the upper part of the stomach, i.e., mainly the gastric cardia protrudes through the diaphragmatic esophageal hiatus. Evidence: PCS. Frequency: 1/6. (PMID:32938213)
- Downslanted palpebral fissures (HP:0000494): The palpebral fissure inclination is more than two standard deviations below the mean. Evidence: PCS. Frequency: 2/6. (PMID:32938213)
- Carotid artery tortuosity (HP:0005302): Abnormal tortuous (i.e., twisted) form of the carotid arteries. Evidence: PCS. Frequency: 2/4. (PMID:32938213)
- Scoliosis (HP:0002650): The presence of an abnormal lateral curvature of the spine. Evidence: PCS. Frequency: 1/6. (PMID:32938213)
- Joint hypermobility (HP:0001382): The capability that a joint (or a group of joints) has to move, passively and/or actively, beyond normal limits along physiological axes. Evidence: PCS. Frequency: 3/6. (PMID:32938213)
- Migraine (HP:0002076): Migraine is a chronic neurological disorder characterized by episodic attacks of headache and associated symptoms. Evidence: PCS. Frequency: 5/6. (PMID:32938213)
- Deeply set eye (HP:0000490): An eye that is more deeply recessed into the plane of the face than is typical. Evidence: PCS. Frequency: 2/6. (PMID:32938213)
- Striae distensae (HP:0001065): Thinned, erythematous, depressed bands of atrophic skin. Initially, striae appear as flattened and thinned, pinkish linear regions of the skin. Striae tend to enlarge in length and become reddish or purplish. Later, striae tend to appear as white, depressed bands that are parallel to the lines of skin tension. Striae distensae occur most often in areas that have been subject to distension such as the lower back, buttocks, thighs, breast, abdomen, and shoulders. Evidence: PCS. Frequency: 1/6. (PMID:32938213)
- Blue sclerae (HP:0000592): An abnormal bluish coloration of the sclera. Evidence: PCS. Frequency: 1/6. (PMID:32938213)
- 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: PCS. Frequency: 1/6. (PMID:32938213)
- Dilatation of celiac artery (HP:0100858): Abnormal outpouching or sac-like dilatation in the wall of the celiac artery. Evidence: PCS. Frequency: 1/4. (PMID:32938213)
- Joint subluxation (HP:0032153): A partial dislocation of a joint. Evidence: PCS. Frequency: 3/6. (PMID:32938213)
- Vertebral artery tortuosity (HP:0033981): Abnormal tortuous (i.e., twisted) form of the vertebral arteries. Evidence: PCS. Frequency: 4/4. (PMID:32938213)
- Pectus excavatum (HP:0000767): A defect of the chest wall characterized by a depression of the sternum, giving the chest ("pectus") a caved-in ("excavatum") appearance. Evidence: PCS. Frequency: 2/6. (PMID:32938213)
- Shoulder subluxation (HP:0003835): A partial dislocation of the shoulder joint. Evidence: PCS. Frequency: 1/6. (PMID:32938213)
- Dolichocephaly (HP:0000268): An abnormality of skull shape characterized by a increased anterior-posterior diameter, i.e., an increased antero-posterior dimension of the skull. Cephalic index less than 76%. Alternatively, an apparently increased antero-posterior length of the head compared to width. Often due to premature closure of the sagittal suture. Evidence: PCS. Frequency: 2/6. (PMID:32938213)
- Dilatation of the cerebral artery (HP:0004944): The presence of a localized dilatation or ballooning of a cerebral artery. Evidence: PCS. Frequency: 1/4. (PMID:32938213)
- 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:32938213)
- Micrognathia (HP:0000347): Developmental hypoplasia of the mandible. Evidence: PCS. Frequency: 1/6. (PMID:32938213)
These phenotypes are associated with the disease fibromuscular dysplasia, multifocal (OMIM:619329).