- Skeletal muscle atrophy (HP:0003202, a Human Phenotype Ontology term): The presence of skeletal muscular atrophy (which is also known as amyotrophy). Evidence: PCS. Frequency: 4/4. (PMID:24268661)
- Elevated circulating creatine kinase activity (HP:0003236, a Human Phenotype Ontology term): The activity of creatine kinase in the blood circulation is above the upper limit of normal. Evidence: PCS. Frequency: 3/3. (PMID:24268661)
- Erysipelas (HP:0001055, a Human Phenotype Ontology term): Increased susceptibility to erysipelas, as manifested by a medical history of repeated episodes of erysipelas, which is a superficial infection of the skin, typically involving the lymphatic system. Evidence: PCS. Frequency: 2/8. (PMID:24268661)
- Congenital onset (HP:0003577, a Human Phenotype Ontology term): A phenotypic abnormality that is present at birth. Evidence: PCS. Frequency: 8/8. (PMID:24268661)
- Scoliosis (HP:0002650, a Human Phenotype Ontology term): The presence of an abnormal lateral curvature of the spine. Evidence: PCS. Frequency: 2/8. (PMID:24268661)
- Alopecia (HP:0001596, a Human Phenotype Ontology term): A noncongenital process of hair loss, which may progress to partial or complete baldness. Evidence: PCS. Frequency: 8/8. (PMID:24268661)
- Nail dysplasia (HP:0002164, a Human Phenotype Ontology term): The presence of developmental dysplasia of the nail. Evidence: PCS. Frequency: 1/8. (PMID:24268661)
- Hepatomegaly (HP:0002240, a Human Phenotype Ontology term): Abnormally increased size of the liver. Evidence: PCS. Frequency: 1/7. (PMID:24268661)
- Sparse eyebrow (HP:0045075, a Human Phenotype Ontology term): Decreased density/number of eyebrow hairs. Evidence: PCS. Frequency: 8/8. (PMID:24268661)
- Restrictive ventilatory defect (HP:0002091, a Human Phenotype Ontology term): A functional defect characterized by reduced total lung capacity (TLC) not associated with abnormalities of expiratory airflow or airway resistance. Spirometrically, a restrictive defect is defined as FEV1 (forced expiratory volume in 1 second) and FVC (forced vital capacity) less than 80 per cent. Restrictive lung disease may be caused by alterations in lung parenchyma or because of a disease of the pleura, chest wall, or neuromuscular apparatus. Evidence: PCS. Frequency: 5/5. (PMID:24268661)
- Joint contracture (HP:0034392, a Human Phenotype Ontology term): A limitation in the passive range of motion of a joint resulting from loss of elasticity in the periarticular tissues owing to structural changes of non-bony tissues, such as muscles, tendons, ligaments, joint capsules or skin. A contracture prevents movement of the associated body part. Evidence: PCS. Frequency: 5/6. (PMID:24268661)
- Cataract (HP:0000518, a Human Phenotype Ontology term): A cataract is an opacity or clouding that develops in the crystalline lens of the eye or in its capsule. Evidence: PCS. Frequency: 1/8. (PMID:24268661)
- Delayed puberty (HP:0000823, a Human Phenotype Ontology term): Passing the age when puberty normally occurs with no physical or hormonal signs of the onset of puberty. Evidence: PCS. Frequency: 2/2. (PMID:24268661)
- Hypohidrosis (HP:0000966, a Human Phenotype Ontology term): Abnormally diminished capacity to sweat. Evidence: PCS. Frequency: 7/7. (PMID:24268661)
- Muscle weakness (HP:0001324, a Human Phenotype Ontology term): Reduced strength of muscles. Evidence: PCS. Frequency: 5/5. (PMID:24268661)
- Sparse eyelashes (HP:0000653, a Human Phenotype Ontology term): Decreased density/number of eyelashes. Evidence: PCS. Frequency: 4/8. (PMID:24268661)
- Growth delay (HP:0001510, a Human Phenotype Ontology term): A deficiency or slowing down of growth pre- and postnatally. Evidence: PCS. Frequency: 2/8. (PMID:24268661)
- Pulmonary fibrosis (HP:0002206, a Human Phenotype Ontology term): Replacement of normal lung tissues by fibroblasts and collagen. Evidence: PCS. Frequency: 2/2. (PMID:24268661)
- Autosomal dominant inheritance (HP:0000006, 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 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:24268661)
- Poikiloderma (HP:0001029, a Human Phenotype Ontology term): Poikiloderma refers to a patch of skin with (1) reticulated hypopigmentation and hyperpigmentation, (2) wrinkling secondary to epidermal atrophy, and (3) telangiectasias. Evidence: PCS. Frequency: 8/8. Onset: Congenital onset (HP:0003577, a Human Phenotype Ontology term). (PMID:24268661)
- Areflexia of lower limbs (HP:0002522, a Human Phenotype Ontology term): Inability to elicit tendon reflexes in the lower limbs. Evidence: PCS. Frequency: 3/3. (PMID:24268661)
These phenotypes are associated with the disease hereditary sclerosing poikiloderma with tendon and pulmonary involvement (OMIM:615704, an entry in Online Mendelian Inheritance in Man).