Total 28 clinical symptoms reported for Autosomal dominant osteopetrosis 2
| Abnormal metacarpal morphology |
Irregularly shaped metacarpal bones of varying degree.
Synonyms:Abnormal shape of long bones of hand; Abnormal shape of metacarpal bones |
Very frequent |
| Abnormality of epiphysis morphology |
An anomaly of epiphysis, which is the expanded articular end of a long bone that developes from a secondary ossification center, and which during the period of growth is either entirely cartilaginous or is separated from the shaft by a cartilaginous disk.
Synonyms:Abnormal shape of end part of bone; Abnormality of the epiphyses; Anomaly of the epiphyses; Epiphyseal abnormality |
Very frequent |
| Abnormality of the metaphysis |
An abnormality of one or more metaphysis, i.e., of the somewhat wider portion of a long bone that is adjacent to the epiphyseal growth plate and grows during childhood.
Synonyms:Abnormality of the wide portion of a long bone |
Very frequent |
| Arthritis |
Inflammation of a joint.
Synonyms:Arthritis; Joint inflammation |
Very frequent |
| Avascular necrosis |
A disease where there is cellular death (necrosis) of bone components due to interruption of the blood supply.
Synonyms:Aseptic bone necrosis; Aseptic necrosis; Bone infarction; Death of bone due to decreased blood supply; Ischemic bone necrosis; Osteochondronecrosis; Osteonecrosis |
Very frequent |
| Bone pain |
An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) localized to bone.
Synonyms:Bone pain |
Very frequent |
| Cranial nerve paralysis |
Synonyms:Cranial nerve palsies; Cranial nerve palsy; Cranial nerve paresis |
Very frequent |
| Facial palsy |
Facial nerve palsy is a dysfunction of cranial nerve VII (the facial nerve) that results in inability to control facial muscles on the affected side with weakness of the muscles of facial expression and eye closure. This can either be present in unilateral or bilateral form.
Synonyms:Bell's palsy; Cranial nerve VII palsy; Facial nerve palsy; Facial nerve paralysis; Facial palsy, unilateral or bilateral; Seventh cranial nerve palsy; VII th cranial nerve palsy |
Very frequent |
| Frontal bossing |
Bilateral bulging of the lateral frontal bone prominences with relative sparing of the midline.
Synonyms:Frontal protruberance; Skull bossing |
Very frequent |
| Generalized osteosclerosis |
An abnormal increase of bone mineral density with generalized involvement of the skeleton.
Synonyms:Diffuse, symmetrical osteosclerosis; Osteosclerosis, diffuse symmetrical |
Very frequent |
| Joint dislocation |
Displacement or malalignment of joints.
Synonyms:Joint dislocation; Joint dislocations |
Very frequent |
| Macrocephaly |
Occipitofrontal (head) circumference greater than 97th centile compared to appropriate, age matched, sex-matched normal standards. Alternatively, a apparently increased size of the cranium.
Synonyms:Increased size of cranium; Increased size of skull; Large head; Large head circumference; Macrocrania; Megacephaly |
Very frequent |
| Mandibular osteomyelitis |
Osteomyelitis of the lower jaw.
Synonyms:Lower jaw bone infection; Osteomyelitis, especially of the mandible |
Very frequent |
| Osteoarthritis |
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.
Synonyms:Degenerative joint disease |
Very frequent |
| Osteomyelitis |
Osteomyelitis is an inflammatory process accompanied by bone destruction and caused by an infecting microorganism.
Synonyms:Bone infection |
Very frequent |
| Recurrent fractures |
The repeated occurrence of bone fractures (implying an abnormally increased tendency for fracture).
Synonyms:Frequent fractures; Increased fracture rate; Increased fractures; Multiple fractures; Multiple spontaneous fractures; Recurrent fractures; Varying degree of multiple fractures |
Very frequent |
| Short distal phalanx of finger |
Short distance from the end of the finger to the most distal interphalangeal crease or the distal interphalangeal joint flexion point. That is, hypoplasia of one or more of the distal phalanx of finger.
Synonyms:Brachytelophalangy; Distal phalangeal hypoplasia; Hypoplasia of the distal phalanges; Hypoplasia of the distal phalanges of the hand; Hypoplasic terminal phalanges; Hypoplastic distal phalanges; Hypoplastic terminal phalanges; Short distal phalanges; Short outermost finger bone; Terminal phalangeal hypoplasia of hand |
Very frequent |