- Poor wound healing (HP:0001058, a Human Phenotype Ontology term): A reduced ability to heal cutaneous wounds. Evidence: PCS. Frequency: 7/7. (PMID:30759870;PMID:30548383;PMID:29606302)
- Hypotonia (HP:0001252, a Human Phenotype Ontology term): Hypotonia is an abnormally low muscle tone (the amount of tension or resistance to movement in a muscle). Even when relaxed, muscles have a continuous and passive partial contraction which provides some resistance to passive stretching. Hypotonia thus manifests as diminished resistance to passive stretching. Hypotonia is not the same as muscle weakness, although the two conditions can co-exist. Evidence: PCS. Frequency: 2/4. (PMID:30759870;PMID:29606302)
- Infantile onset (HP:0003593, a Human Phenotype Ontology term): Onset of signs or symptoms of disease between 28 days to one year of life. Evidence: PCS. Frequency: 2/4. (PMID:30548383;PMID:29606302)
- Thin eyebrow (HP:0045074, a Human Phenotype Ontology term): Decreased diameter of eyebrow hairs. Evidence: IEA. (OMIM:618000)
- Chronic fatigue (HP:0012432, a Human Phenotype Ontology term): Subjective feeling of tiredness characterized by a lack of energy and motivation that persists for six months or longer. Evidence: PCS. Frequency: 1/1. (PMID:30759870)
- Childhood onset (HP:0011463, a Human Phenotype Ontology term): Onset of disease at the age of between 1 and 5 years. Evidence: PCS. Frequency: 1/2. (PMID:30548383)
- Varicose veins (HP:0002619, a Human Phenotype Ontology term): Enlarged and tortuous veins. Evidence: PCS. Frequency: 1/1. (PMID:30759870)
- Aortic root aneurysm (HP:0002616, a Human Phenotype Ontology term): An abnormal localized widening (dilatation) of the aortic root. Evidence: PCS. Frequency: 1/4. (PMID:30548383;PMID:29606302)
- Hyperpigmentation of the skin (HP:0000953, a Human Phenotype Ontology term): A darkening of the skin related to an increase in melanin production and deposition. Evidence: PCS. Frequency: 1/3. (PMID:29606302)
- Ventral hernia (HP:0002933, a Human Phenotype Ontology term): Ventral hernia refers to a condition in which abdominal contents protrude through a weakened portion of the abdominal wall. Evidence: PCS. Frequency: 2/3. (PMID:29606302)
- Bilateral ptosis (HP:0001488, a Human Phenotype Ontology term). Evidence: PCS. Frequency: 1/3. (PMID:29606302)
- Pes planus (HP:0001763, a Human Phenotype Ontology term): 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: 5/5. (PMID:30759870;PMID:29606302)
- Molluscoid pseudotumors (HP:0000993, a Human Phenotype Ontology term): Bluish-grey, spongy nodules associated with scars over pressure points and easily traumatized areas like the elbows and knees. Evidence: PCS. Frequency: 1/1. (PMID:30759870)
- Hammertoe (HP:0001765, a Human Phenotype Ontology term): Hyperextension of the metatarsal-phalangeal joint with hyperflexion of the proximal interphalangeal (PIP) joint. Evidence: PCS. Frequency: 4/4. (PMID:29606302)
- Neonatal onset (HP:0003623, a Human Phenotype Ontology term): Onset of signs or symptoms of disease within the first 28 days of life. Evidence: PCS. Frequency: 1/1. (PMID:30759870)
- Empty sella turcica (HP:6000483, a Human Phenotype Ontology term): Empty sella or arachnoidocele has been defined as the herniation of the subarachnoid space within the sella turcica, associated with elongated pituitary stalk and flattening of the pituitary gland. Evidence: PCS. Frequency: 1/4. (PMID:29606302)
- Tooth malposition (HP:0000692, a Human Phenotype Ontology term): Abnormal alignment, positioning, or spacing of the teeth, i.e., misaligned teeth. Evidence: PCS. Frequency: 1/1. (PMID:29606302)
- Joint hypermobility (HP:0001382, a Human Phenotype Ontology term): 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: 2/2. (PMID:30548383)
- Redundant skin (HP:0001582, a Human Phenotype Ontology term): Loose and sagging skin often associated with loss of skin elasticity. Evidence: PCS. Frequency: 7/7. (PMID:30759870;PMID:30548383;PMID:29606302)
- Widened atrophic scar (HP:0031158, a Human Phenotype Ontology term): An atrophic scar (fibrous connective tissue resulting from incomplete healing of a wound) that has stretched (gotten wider), a manifestation of tissue fragility. Evidence: PCS. Frequency: 1/1. (PMID:30759870)
- Decreased dermal collagen (HP:0034943, a Human Phenotype Ontology term): Abnormally reduced amount of collagen fibers in the dermis. Evidence: PCS. Frequency: 2/2. (PMID:29606302)
- Premature sagging cheeks (HP:0034273, a Human Phenotype Ontology term): Drooping or sinking of tissues of the cheeks more than would be expected at a given age. Sagging can occur due to a relative excess of skin and/or lack of elastic recoil as well as fat accumulation. Evidence: PCS. Frequency: 1/1. (PMID:29606302)
- Keloids (HP:0010562, a Human Phenotype Ontology term). Evidence: PCS. Frequency: 1/3. (PMID:29606302)
- Hip dislocation (HP:0002827, a Human Phenotype Ontology term): Displacement of the femur from its normal location in the hip joint. Evidence: PCS. Frequency: 3/3. (PMID:29606302)
- Cellulitis (HP:0100658, a Human Phenotype Ontology term): A bacterial infection and inflammation of the skin und subcutaneous tissues. Evidence: PCS. Frequency: 1/4. (PMID:29606302)
- Umbilical hernia (HP:0001537, a Human Phenotype Ontology term): Protrusion of abdominal contents through a defect in the abdominal wall musculature around the umbilicus. Skin and subcutaneous tissue overlie the defect. Evidence: PCS. Frequency: 2/4. (PMID:30759870;PMID:29606302)
- Autosomal recessive inheritance (HP:0000007, a Human Phenotype Ontology term): 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 individuals with two pathogenic alleles, either homozygotes (two copies of the same mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele). Evidence: PCS. Frequency: 20/20. (PMID:27023906;PMID:29606302)
- Macrotia (HP:0000400, a Human Phenotype Ontology term): Median longitudinal ear length greater than two standard deviations above the mean and median ear width greater than two standard deviations above the mean (objective); or, apparent increase in length and width of the pinna (subjective). Evidence: PCS. Frequency: 2/3. (PMID:29606302)
- Shoulder dislocation (HP:0003834, a Human Phenotype Ontology term): A displacement or misalignment of the humerus with respect to the other bones of the should joint. Note that a subluxation is a partial dislocation. Evidence: PCS. Frequency: 2/3. (PMID:29606302)
- Thoracic scoliosis (HP:0002943, a Human Phenotype Ontology term). Evidence: PCS. Frequency: 2/5. (PMID:30759870;PMID:29606302)
- Prominent superficial veins (HP:0001015, a Human Phenotype Ontology term): A condition in which superficial veins (i.e., veins just under the skin) are more conspicuous or noticeable than normal. Evidence: PCS. Frequency: 2/2. (PMID:30548383)
- Cervical C2/C3 vertebral fusion (HP:0004602, a Human Phenotype Ontology term): Fusion of cervical vertebrae at C2 and C3, caused by a failure in the normal segmentation or division of the cervical vertebrae during the early weeks of fetal development, leading to a short neck with a low hairline at the back of the head, and restricted mobility of the upper spine. Evidence: PCS. Frequency: 1/1. (PMID:29606302)
- Congenital onset (HP:0003577, a Human Phenotype Ontology term): A phenotypic abnormality that is present at birth. Evidence: PCS. Frequency: 1/2. (PMID:29606302)
- Generalized joint hypermobility (HP:0002761, a Human Phenotype Ontology term): Joint hypermobility (ability of a joint to move beyond its normal range of motion) affecting many or all joints of the body. In individuals with Joint hypermobility at multiple sites (usually five or more), the term generalized joint hypermobility is preferred. Evidence: PCS. Frequency: 4/4. (PMID:29606302)
- Inguinal hernia (HP:0000023, a Human Phenotype Ontology term): Protrusion of the contents of the abdominal cavity through the inguinal canal. Evidence: PCS. Frequency: 1/3. (PMID:29606302)
- Thoracic aortic aneurysm (HP:0012727, a Human Phenotype Ontology term): An abnormal localized widening (dilatation) of the thoracic aorta. Evidence: PCS. Frequency: 1/4. (PMID:29606302)
- Facet joint arthrosis (HP:0030871, a Human Phenotype Ontology term): Osteoarthritis of facet joints in the spine. Degeneration of cartilage in the facet joints results in bone rubbing on bone and reactive new bone formation visible on X-ray. Evidence: PCS. Frequency: 1/2. (PMID:29606302)
- Squared iliac bones (HP:0003177, a Human Phenotype Ontology term): A shift from the normally round (convex) appearance of the iliac wing towards a square-like appearance. Evidence: PCS. Frequency: 1/4. (PMID:29606302)
- Low posterior hairline (HP:0002162, a Human Phenotype Ontology term): Hair on the neck extends more inferiorly than usual. Evidence: PCS. Frequency: 1/3. (PMID:29606302)
- Atrophic scars (HP:0001075, a Human Phenotype Ontology term): 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: 3/3. (PMID:29606302)
- Motor delay (HP:0001270, a Human Phenotype Ontology term): A type of Developmental delay characterized by a delay in acquiring motor skills. Evidence: PCS. Frequency: 2/5. (PMID:30759870;PMID:29606302)
- Carotid artery stenosis (HP:0100546, a Human Phenotype Ontology term): Narrowing of the carotid arteries. Evidence: PCS. Frequency: 1/2. (PMID:29606302)
- Osteopenia (HP:0000938, a Human Phenotype Ontology term): Osteopenia is a term to define bone density that is not normal but also not as low as osteoporosis. By definition from the World Health Organization osteopenia is defined by bone densitometry as a T score -1 to -2.5. Evidence: PCS. Frequency: 5/5. (PMID:30759870;PMID:29606302)
- Hallux valgus (HP:0001822, a Human Phenotype Ontology term): Lateral deviation of the great toe (i.e., in the direction of the little toe). Evidence: PCS. Frequency: 5/5. (PMID:30759870;PMID:29606302)
- Bruising susceptibility (HP:0000978, a Human Phenotype Ontology term): An ecchymosis (bruise) refers to the skin discoloration caused by the escape of blood into the tissues from ruptured blood vessels. This term refers to an abnormally increased susceptibility to bruising. The corresponding phenotypic abnormality is generally elicited on medical history as a report of frequent ecchymoses or bruising without adequate trauma. Evidence: PCS. Frequency: 6/6. (PMID:30759870;PMID:30548383;PMID:29606302)
- Recurrent thrombophlebitis (HP:0004419, a Human Phenotype Ontology term): Repeated episodes of inflammation of a vein associated with venous thrombosis (blood clot formation within the vein). Evidence: PCS. Frequency: 1/1. (PMID:30759870)
- High palate (HP:0000218, a Human Phenotype Ontology term): 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: 2/4. (PMID:30759870;PMID:29606302)
- Osteoarthritis (HP:0002758, a Human Phenotype Ontology term): Degeneration (wear and tear) of articular cartilage, i.e., of the joint surface. Joint degeneration may be accompanied by osteophytes (bone overgrowth), narrowing of the joint space, regions of sclerosis at the joint surface, or joint deformity. Evidence: PCS. Frequency: 2/2. (PMID:29606302)
- Intermittent claudication (HP:0004417, a Human Phenotype Ontology term): Intermittent claudication is a symptom of peripheral arterial occlusive disease. After having walked over a distance which is individually characteristic, the patients experience pain or cramps in the calves, feet or thighs which typically subsides on standing still. Evidence: PCS. Frequency: 1/1. (PMID:30759870)
- Soft, doughy skin (HP:0001027, a Human Phenotype Ontology term): A skin texture that is unusually soft (and may feel silky), and has a malleable consistency resembling that of dough. Evidence: PCS. Frequency: 1/1. (PMID:30759870)
- Hyperextensible skin (HP:0000974, a Human Phenotype Ontology term): A condition in which the skin can be stretched beyond normal, and then returns to its initial position. Evidence: PCS. Frequency: 7/7. (PMID:30759870;PMID:30548383;PMID:29606302)
- Knee dislocation (HP:0004976, a Human Phenotype Ontology term). Evidence: PCS. Frequency: 1/1. (PMID:29606302)
- Bursitis (HP:0025232, a Human Phenotype Ontology term): Inflammation of a synovial bursa. Evidence: PCS. Frequency: 1/4. (PMID:29606302)
- Recurrent patellar dislocation (HP:0005001, a Human Phenotype Ontology term): Patellar dislocation occurring repeated times. Evidence: PCS. Frequency: 1/1. (PMID:30759870)
- Short neck (HP:0000470, a Human Phenotype Ontology term): Diminished length of the neck. Evidence: IEA. (OMIM:618000)
- Long uvula (HP:0010810, a Human Phenotype Ontology term): Increased length of the uvula. Evidence: PCS. Frequency: 1/1. (PMID:30759870)
- Periodontitis (HP:0000704, a Human Phenotype Ontology term): Inflammation of the periodontium. Evidence: PCS. Frequency: 1/1. (PMID:30759870)
- Prematurely aged appearance (HP:0007495, a Human Phenotype Ontology term). Evidence: PCS. Frequency: 2/2. (PMID:30548383)
- Atypical scarring of skin (HP:0000987, a Human Phenotype Ontology term): Atypically scarred skin . Evidence: PCS. Frequency: 2/2. (PMID:30548383)
- Low back pain (HP:0003419, a Human Phenotype Ontology term): An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) localized to the lower back. Evidence: PCS. Frequency: 1/1. (PMID:30759870)
- Webbed neck (HP:0000465, a Human Phenotype Ontology term): Pterygium colli is a congenital skin fold that runs along the sides of the neck down to the shoulders. It involves an ectopic fibrotic facial band superficial to the trapezius muscle. Excess hair-bearing skin is also present and extends down the cervical region well beyond the normal hairline. Evidence: PCS. Frequency: 1/3. (PMID:29606302)
- Cryptorchidism (HP:0000028, a Human Phenotype Ontology term): Testis in inguinal canal. That is, absence of one or both testes from the scrotum owing to failure of the testis or testes to descend through the inguinal canal to the scrotum. Evidence: PCS. Frequency: 1/3. (PMID:29606302)
- Micrognathia (HP:0000347, a Human Phenotype Ontology term): Developmental hypoplasia of the mandible. Evidence: PCS. Frequency: 1/3. (PMID:29606302)
- Mitral valve prolapse (HP:0001634, a Human Phenotype Ontology term): One or both of the leaflets (cusps) of the mitral valve bulges back into the left atrium upon contraction of the left ventricle. Evidence: PCS. Frequency: 4/6. (PMID:30548383;PMID:29606302)
- Neonatal respiratory distress (HP:0002643, a Human Phenotype Ontology term): Respiratory difficulty as newborn. Evidence: PCS. Frequency: 1/5. (PMID:30759870;PMID:29606302)
These phenotypes are associated with the disease Ehlers-Danlos syndrome, classic-like, 2 (OMIM:618000, an entry in Online Mendelian Inheritance in Man).