Phenotypes associated with the disease Multiple osteochondromas (ORPHA:321):
- Osteochondroma (HP:0030431): A cartilage capped bony outgrowth of a long bone. Osteochondroma arises on the external surface of bone containing a marrow cavity that is continuous with that of the underlying bone. Evidence: TAS. Frequency: Obligate (HP:0040280). (ORPHA:321)
- Limitation of joint mobility (HP:0001376): A reduction in the freedom of movement of one or more joints. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:321)
- Abnormal cartilage morphology (HP:0002763): Any morphological abnormality of cartilage. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:321)
- Abnormality of the knee (HP:0002815): An abnormality of the knee joint or surrounding structures. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:321)
- Abnormal femur morphology (HP:0002823): Any anomaly of the structure of the femur. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:321)
- Abnormal bone structure (HP:0003330): Any anomaly in the composite material or the layered arrangement of the bony skeleton. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:321)
- Deformed forearm bones (HP:0003959). Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:321)
- Functional motor deficit (HP:0004302). Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:321)
- Short stature (HP:0004322): A height below that which is expected according to age and gender norms. Although there is no universally accepted definition of short stature, many refer to "short stature" as height more than 2 standard deviations below the mean for age and gender (or below the 3rd percentile for age and gender dependent norms). Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:321)
- Pain (HP:0012531): An unpleasant sensory and emotional experience associated with actual or potential tissue damage, or described in terms of such damage. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:321)
- Abnormal lower limb bone morphology (HP:0040069). Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:321)
- Arthritis (HP:0001369): Inflammation of a joint. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:321)
- Coxa valga (HP:0002673): Coxa valga is a deformity of the hip in which the angle between the femoral shaft and the femoral neck is increased compared to age-adjusted values (about 150 degrees in newborns gradually reducing to 120-130 degrees in adults). Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:321)
- Genu valgum (HP:0002857): The legs angle inward, such that the knees are close together and the ankles far apart. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:321)
- Abnormal fibula morphology (HP:0002991): An anomaly of the calf bone (fibula), one of the two bones of the calf. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:321)
- Abnormal tibia morphology (HP:0002992): Abnormality of the tibia (shinbone). Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:321)
- Metaphyseal widening (HP:0003016): Abnormal widening of the metaphyseal regions of long bones. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:321)
- Short long bone (HP:0003026): One or more abnormally short long bone. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:321)
- Myalgia (HP:0003326): Pain in muscle. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:321)
- Somatic sensory dysfunction (HP:0003474): An abnormality of the primary sensation that is mediated by peripheral nerves (pain, temperature, touch, vibration, joint position). The word hypoesthesia (or hypesthesia) refers to a reduction in cutaneous sensation to a specific type of testing. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:321)
- Deformed radius (HP:0003977). Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:321)
- Abnormal hand morphology (HP:0005922): Any structural anomaly of the hand. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:321)
- Short lower limbs (HP:0006385): Shortening of the legs related to developmental hypoplasia of the bones of the leg. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:321)
- Bowing of the long bones (HP:0006487): A bending or abnormal curvature of a long bone. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:321)
- Limited hip movement (HP:0008800): A decreased ability to move the femur at the hip joint associated with a decreased range of motion of the hip. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:321)
- Forearm undergrowth (HP:0009821): Forearm shortening because of underdevelopment of one or more bones of the forearm. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:321)
- Limb undergrowth (HP:0009826): Limb shortening because of underdevelopment of one or more bones of the extremities. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:321)
- Short metacarpal (HP:0010049): Diminished length of one or more metacarpal bones in relation to the others of the same hand or to the contralateral metacarpal. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:321)
- Limitation of knee mobility (HP:0010501): An abnormal limitation of knee joint mobility. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:321)
- Bursitis (HP:0025232): Inflammation of a synovial bursa. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:321)
- Femoroacetabular impingement (HP:0030883): Femoroacetabular impingement (FAI) results from one or more bony abnormalities that lead to abnormal contact between the acetabulum and the femoral head or neck. The femoral abnormality is proposed to cause compression and shear stresses in the region between the labrum and cartilage, anterosuperiorly. These stresses cause a separation between the labrum and cartilage as the labrum is pushed outwards and the cartilage is pushed centrally. This eventually leads to articular degeneration and eventually global hip osteoarthritis. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:321)
- Tendon pain (HP:0032510): An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) localized to a tendon. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:321)
- Abnormal morphology of ulna (HP:0040071): Any structural anomaly of the ulna, a bone of the forearm the extends from the elbow to the little finger. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:321)
- Asymmetric growth (HP:0100555): A growth pattern that displays an abnormal difference between the left and the right side. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:321)
- Lower limb asymmetry (HP:0100559): A difference in length or diameter between the left and right leg. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:321)
- Urinary retention (HP:0000016): Inability to completely empty the urinary bladder during the process of urination. Evidence: TAS. Frequency: Very rare (HP:0040284). (ORPHA:321)
- Rib exostoses (HP:0000896): Multiple circumscribed bony excrescences located in the ribs. Evidence: TAS. Frequency: Very rare (HP:0040284). (ORPHA:321)
- Scapular exostoses (HP:0000918): The presence of multiple exostoses on the scapula. An exostosis is a benign growth the projects outward from the bone surface. It is capped by cartilage. Evidence: TAS. Frequency: Very rare (HP:0040284). (ORPHA:321)
- Abnormal carpal morphology (HP:0001191): An abnormality affecting the carpal bones of the wrist (scaphoid, lunate, triquetral, pisiform, trapezium, trapezoid, capitate, hamate). Evidence: TAS. Frequency: Very rare (HP:0040284). (ORPHA:321)
- Abnormality of the tarsal bones (HP:0001850): An abnormality of the tarsus are the cluster of seven bones in the foot between the tibia and fibula and the metatarsus, including the calcaneus (heel) bone and the talus (ankle) bone. Evidence: TAS. Frequency: Very rare (HP:0040284). (ORPHA:321)
- Dysphagia (HP:0002015): Difficulty in swallowing. Evidence: TAS. Frequency: Very rare (HP:0040284). (ORPHA:321)
- Pneumothorax (HP:0002107): Accumulation of air in the pleural cavity leading to a partially or completely collapsed lung. Evidence: TAS. Frequency: Very rare (HP:0040284). (ORPHA:321)
- Tethered cord (HP:0002144): During normal embryological development, the spinal cord first occupies the entire length of the vertebral column but goes on to assume a position at the level of L1 due to differential growth of the conus medullaris and the vertebral column. The filum terminale is a slender, threadlike structure that remains after the normal regression of the distal embryonic spinal cord and attaches the spinal cord to the coccyx. A tethered cord results if there is a thickened rope-like filum terminale which anchors the cord at the level of L2 or below, potentially causing neurologic signs owing to abnormal tension on the spinal cord. Evidence: TAS. Frequency: Very rare (HP:0040284). (ORPHA:321)
- Spinal cord compression (HP:0002176): External mechanical compression of the spinal cord. Evidence: TAS. Frequency: Very rare (HP:0040284). (ORPHA:321)
- Cervical myelopathy (HP:0002318): A collection of pathologic conditions that result from progressive spinal cord dysfunction secondary to cord compression in the cervical spine. Evidence: TAS. Frequency: Very rare (HP:0040284). (ORPHA:321)
- Syringomyelia (HP:0003396): Dilated, glial-lined cavity in spinal cord. This cavity does not communicate with the central canal, and usually is between the dorsal columns unilaterally or bilaterally along the side of the cord. Evidence: TAS. Frequency: Very rare (HP:0040284). (ORPHA:321)
- Peripheral nerve compression (HP:0003406). Evidence: TAS. Frequency: Very rare (HP:0040284). (ORPHA:321)
- Talipes valgus (HP:0004684): Outward turning of the heel, resulting in clubfoot with the person walking on the inner part of the foot. Evidence: TAS. Frequency: Very rare (HP:0040284). (ORPHA:321)
- Intestinal obstruction (HP:0005214): Blockage or impairment of the normal flow of the contents of the intestine towards the anal canal. Evidence: TAS. Frequency: Very rare (HP:0040284). (ORPHA:321)
- Chondrosarcoma (HP:0006765): A slowly growing malignant neoplasm derived from cartilage cells. Evidence: TAS. Frequency: Very rare (HP:0040284). (ORPHA:321)
- Neuropathic spinal arthropathy (HP:0008443): A progressive disorder of vertebral joint degeneration that occurs in the setting of any condition characterized by decreased afferent innervation, involving loss of deep pain and proprioceptive sensation in the vertebral column. Patients most commonly present with symptoms of lower back pain, sitting imbalance, progressive spinal deformity (usually kyphosis), and an audible clicking sound on changing postures. Evidence: TAS. Frequency: Very rare (HP:0040284). (ORPHA:321)
- Hemothorax (HP:0012151): The presence of blood in the pleural space. Evidence: TAS. Frequency: Very rare (HP:0040284). (ORPHA:321)
- Bone fracture (HP:0020110): A partial or complete breakage of the continuity of a bone. Evidence: TAS. Frequency: Very rare (HP:0040284). (ORPHA:321)
- Pseudoaneurysm (HP:0031625): A contained rupture of an artery with a disruption in all 3 layers of the arterial wall. Evidence: TAS. Frequency: Very rare (HP:0040284). (ORPHA:321)
- Abnormal pelvis bone morphology (HP:0040163). Evidence: TAS. Frequency: Very rare (HP:0040284). (ORPHA:321)
- Chest pain (HP:0100749): An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) localized to the chest. Evidence: TAS. Frequency: Very rare (HP:0040284). (ORPHA:321)