Question: What are the symptoms of Camurati-Engelmann disease ?
Answer: What are the signs and symptoms of Camurati-Engelmann disease? People with Camurati-Engelmann disease have increased bone density, particularly affecting the long bones of the arms and legs (tibia, femur, humerus, ulna, radius). In some cases, the skull and hip bones are also affected. The thickened bones can lead to pain in the arms and legs, a waddling walk, muscle weakness, and extreme tiredness. An increase in the density of the skull results in increased pressure on the brain and can cause a variety of neurological problems, including headaches, hearing loss, vision problems, dizziness (vertigo), ringing in the ears (tinnitus), and facial paralysis. The added pressure that thickened bones put on the muscular and skeletal systems can cause abnormal curvature of the spine (scoliosis), joint deformities (contractures), knock knees, and flat feet (pes planus). Other features of Camurati-Engelmann disease include abnormally long limbs in proportion to height, a decrease in muscle mass and body fat, and delayed puberty. In the most severe cases, the mandibula (jaw), vertebrae, thoracic cage, shoulder girdle, and carpal (hands, wrist) and tarsal (foot, ankle) bones are involved. Radiographically (on X-ray), the shafts of long bones show symmetric and progressive widening and malformation (diaphyseal dysplasia). Vascular (Raynaud's phenomenon) and hematological (anemia, leukopenia (low level of white blood cells), increased erythrocyte sedimentation rate) features and hepatosplenomegaly are commonly associated with the disease. The age at which affected individuals first experience symptoms varies greatly; however, most people with this condition develop pain or weakness by adolescence. The Human Phenotype Ontology provides the following list of signs and symptoms for Camurati-Engelmann disease. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormality of the femur 90% Abnormality of the humerus 90% Abnormality of the ulna 90% Aplasia/Hypoplasia of the radius 90% Bone pain 90% Hyperostosis 90% Skeletal dysplasia 90% Abnormality of the metaphyses 50% Limitation of joint mobility 50% Skeletal muscle atrophy 50% Abnormal facial shape 7.5% Abnormality of the genital system 7.5% Abnormality of the hip bone 7.5% Abnormality of the urinary system 7.5% Acrocyanosis 7.5% Anemia 7.5% Anorexia 7.5% Carious teeth 7.5% Delayed eruption of teeth 7.5% Disproportionate tall stature 7.5% Facial palsy 7.5% Feeding difficulties in infancy 7.5% Frontal bossing 7.5% Genu valgum 7.5% Glaucoma 7.5% Hearing impairment 7.5% Hepatomegaly 7.5% Hyperlordosis 7.5% Hypertrophic cardiomyopathy 7.5% Incoordination 7.5% Kyphosis 7.5% Leukopenia 7.5% Neurological speech impairment 7.5% Optic atrophy 7.5% Pes planus 7.5% Proptosis 7.5% Scoliosis 7.5% Splenomegaly 7.5% Autosomal dominant inheritance - Bone marrow hypocellularity - Cortical thickening of long bone diaphyses - Decreased subcutaneous fat - Delayed puberty - Diaphyseal sclerosis - Diplopia - Easy fatigability - Headache - Juvenile onset - Limb pain - Mandibular prognathia - Optic nerve compression - Poor appetite - Sclerosis of skull base - Slender build - Waddling gait - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.
Source: GARD

Question: Is Camurati-Engelmann disease inherited ?
Answer: How is Camurati-Engelmann disease inherited? Camurati-Engelmann disease is inherited in an autosomal dominant manner. This means that having a change (mutation) in only one copy of the responsible gene in each cell is enough to cause features of the condition. In some cases, an affected person inherits the mutated gene from an affected parent. In other cases, the mutation occurs for the first time in a person with no family history of the condition. This is called a de novo mutation. When a person with a mutation that causes an autosomal dominant condition has children, each child has a 50% (1 in 2) chance to inherit that mutation.
Source: GARD