Phenotypes associated with the disease Camurati-Engelmann disease type 1 (OMIM:131300):
- Hearing impairment (HP:0000365): A decreased magnitude of the sensory perception of sound. Evidence: IEA. Frequency: 10/67. (PMID:15894597)
- Diaphyseal sclerosis (HP:0003034): An elevation in bone density in one or more diaphyses. Sclerosis is normally detected on a radiograph as an area of increased opacity. Evidence: TAS. (OMIM:131300)
- Cranial nerve compression (HP:0001293). Evidence: PCS. Onset: Adult onset (HP:0003581). (PMID:20301335)
- Cortical thickening of long bone diaphyses (HP:0005791): Abnormal thickening of the cortex of the diaphyseal region of long bones. Evidence: IEA. Frequency: 21/22. (PMID:15894597)
- Narrowing of medullary canal (HP:0032458): A reduction in diameter and volume of the central cavity of bone where red or yellow bone marrow is located. Evidence: PCS. (PMID:15894597)
- Increased bone mineral density (HP:0011001): An abnormal increase of bone mineral density, that is, of the amount of matter per cubic centimeter of bones which is often referred to as osteosclerosis. Osteosclerosis can be detected on radiological examination as an increased whiteness (density) of affected bones. Evidence: IEA. (PMID:15894597)
- Anemia (HP:0001903): A reduction in erythrocytes volume or hemoglobin concentration. Evidence: PCS. Frequency: Occasional (HP:0040283). (PMID:20301335)
- Limb pain (HP:0009763): Chronic pain in the limbs with no clear focal etiology. Evidence: IEA. Frequency: 63/92. (PMID:15894597)
- Waddling gait (HP:0002515): Weakness of the hip girdle and upper thigh muscles, for instance in myopathies, leads to an instability of the pelvis on standing and walking. If the muscles extending the hip joint are affected, the posture in that joint becomes flexed and lumbar lordosis increases. The patients usually have difficulties standing up from a sitting position. Due to weakness in the gluteus medius muscle, the hip on the side of the swinging leg drops with each step (referred to as Trendelenburg sign). The gait appears waddling. The patients frequently attempt to counteract the dropping of the hip on the swinging side by bending the trunk towards the side which is in the stance phase (in the German language literature this is referred to as Duchenne sign). Similar gait patterns can be caused by orthopedic conditions when the origin and the insertion site of the gluteus medius muscle are closer to each other than normal, for instance due to a posttraumatic elevation of the trochanter or pseudarthrosis of the femoral neck. Evidence: PCS. Frequency: 54/102. (PMID:20301335;PMID:15894597)
- Genu valgum (HP:0002857): The legs angle inward, such that the knees are close together and the ankles far apart. Evidence: IEA. (PMID:15894597)
- Muscle weakness (HP:0001324): Reduced strength of muscles. Evidence: PCS. Frequency: 40/96. (PMID:29620655;PMID:15894597)
- Headache (HP:0002315): Cephalgia, or pain sensed in various parts of the head, not confined to the area of distribution of any nerve. Evidence: IEA. (PMID:15894597)
- Bone marrow hypocellularity (HP:0005528): A reduced number of hematopoietic cells present in the bone marrow relative to marrow fat. Evidence: TAS. (OMIM:131300)
- Skeletal muscle atrophy (HP:0003202): The presence of skeletal muscular atrophy (which is also known as amyotrophy). Evidence: IEA. (PMID:15894597)
- Out-toeing (HP:6001056): The feet turn excessively outward when walking, caused by a rotational variation in the leg. Evidence: PCS. (PMID:15326622)
- Juvenile onset (HP:0003621): Onset of signs or symptoms of disease between the age of 5 and 15 years. Evidence: IEA. (PMID:15894597)
- Carious teeth (HP:0000670): Caries is a multifactorial bacterial infection affecting the structure of the tooth. This term has been used to describe the presence of more than expected dental caries. Evidence: PCS. (PMID:20301335)
- Scoliosis (HP:0002650): The presence of an abnormal lateral curvature of the spine. Evidence: PCS. Frequency: 12/14. (PMID:20301335;PMID:29620655)
- Sclerosis of skull base (HP:0002694): Increased bone density of the skull base without significant changes in bony contour. Evidence: IEA. (PMID:15894597)
- Diplopia (HP:0000651): Diplopia is a condition in which a single object is perceived as two images, it is also known as double vision. Evidence: IEA. (PMID:15894597)
- Easy fatigability (HP:0003388): Increased susceptibility to fatigue. Evidence: PCS. Frequency: 36/76. (PMID:29620655;PMID:15894597)
- Optic nerve compression (HP:0007807). Evidence: PCS. (PMID:20301335)
- Poor appetite (HP:0004396): A reduced desire to eat. Evidence: IEA. (PMID:15894597)
- Lower limb pain (HP:0012514): An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) localized to the leg. Evidence: PCS. Frequency: 4/4. (PMID:29620655)
- Reduced subcutaneous adipose tissue (HP:0003758): A reduced amount of fat tissue in the lowest layer of the integument. This feature can be appreciated by a reduced skinfold thickness. Evidence: IEA. (PMID:15894597)
- Delayed puberty (HP:0000823): Passing the age when puberty normally occurs with no physical or hormonal signs of the onset of puberty. Evidence: IEA. (PMID:15894597)
- Slender build (HP:0001533): Asthenic habitus refers to a slender build with long limbs, an angular profile, and prominent muscles or bones. Evidence: IEA. (PMID:15894597)
- Proptosis (HP:0000520): An eye that is protruding anterior to the plane of the face to a greater extent than is typical. Evidence: IEA. Onset: Adult onset (HP:0003581). (PMID:15894597)
- Proptosis (HP:0000520): An eye that is protruding anterior to the plane of the face to a greater extent than is typical. Evidence: PCS. Frequency: 2/4. (PMID:29620655)
- Mandibular prognathia (HP:0000303): Abnormal prominence of the chin related to increased length of the mandible. Evidence: PCS. Onset: Adult onset (HP:0003581). (PMID:20301335)
- 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: IEA. (PMID:15894597)