Phenotypes associated with the disease Metaphyseal dysplasia, Braun-Tinschert type (ORPHA:85188):
- Skeletal dysplasia (HP:0002652): A general term describing features characterized by abnormal development of bones and connective tissues. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:85188)
- Thin bony cortex (HP:0002753): Abnormal thinning of the cortical region of bones. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:85188)
- Flared femoral metaphysis (HP:0002834). Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:85188)
- Tibial bowing (HP:0002982): A bending or abnormal curvature of the tibia. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:85188)
- Radial bowing (HP:0002986): A bending or abnormal curvature of the radius. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:85188)
- Hypoplasia of the ulna (HP:0003022): Underdevelopment of the ulna. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:85188)
- Ulnar bowing (HP:0003031): Bending of the diaphysis (shaft) of the ulna. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:85188)
- Upper limb metaphyseal widening (HP:0003856): Increased width (breadth) of metaphyses of the arms. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:85188)
- Deformed humerus (HP:0003871). Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:85188)
- Humerus varus (HP:0003874). Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:85188)
- Exostoses of the ulna (HP:0003985). Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:85188)
- Exostoses of the radius (HP:0003986). Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:85188)
- Broad radial metaphysis (HP:0004026): Increase in width (breadth) of the radial metaphysis. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:85188)
- Broad long bones (HP:0005622): Increased cross-section (diameter) of the long bones. Note that widening may primarily affect specific regions of long bones (e.g., diaphysis or metaphysis), but this should be coded separately. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:85188)
- Wide distal femoral metaphysis (HP:0006387): Increased width of the distal part of the shaft (metaphysis) of the femur. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:85188)
- Broad tibial metaphyses (HP:0006413). Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:85188)
- Broad femoral neck (HP:0006429): An abnormally wide femoral neck (which is the process of bone, connecting the femoral head with the femoral shaft). Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:85188)
- Wide proximal femoral metaphysis (HP:0008783): Increased width of the proximal part of the shaft (metaphysis) of the femur. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:85188)
- Broad femoral head (HP:0008804): Increased width of the femoral head. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:85188)
- Bipartite patella (HP:0010498): A developmental defect that occurs if the two halves of the patella fail to fuse in early childhood. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:85188)
- Fibular bowing (HP:0010502): A bending or abnormal curvature of the fibula. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:85188)
- Advanced pneumatization of cranial sinuses (HP:0010540): A degree of pneumatization that is increased compared to age-related norms. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:85188)
- Elevated alkaline phosphatase of bone origin (HP:0010639): An abnormally increased level of bone isoforms of alkaline phosphatase, tissue-nonspecific isozyme in the blood. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:85188)
- 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: TAS. Frequency: Frequent (HP:0040282). (ORPHA:85188)
- Increased urinary type 1 collagen N-terminal telopeptide level (HP:0032208): An increased concentration of type 1 collagen N-terminal telopeptide (NTx) level in the urine. Generally the test is performed over a period of time, for instance, 10 cc of morning urine can be collected following 12 hours overnight fasting or for 24 hours. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:85188)
- Coarse metaphyseal trabecularization (HP:0100670): Coarse appearance of the components of the network of osseous tissue that makes up the cancellous structure of a bone, i.e., thickening of the (usually fine) white lines that are produced by trabeculae in radiograms. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:85188)
- Sclerosis of middle phalanx of finger (HP:0100916): An elevation in bone density in one or more middle phalanges of the fingers. Sclerosis is normally detected on a radiograph as an area of increased opacity. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:85188)
- Sclerosis of proximal phalanx of finger (HP:0100917): An elevation in bone density in one or more proximal phalanges of the fingers. Sclerosis is normally detected on a radiograph as an area of increased opacity. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:85188)
- Osteopenia (HP:0000938): Osteopenia is a term to define bone density that is not normal but also not as low as osteoporosis. By definition from the World Health Organization osteopenia is defined by bone densitometry as a T score -1 to -2.5. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:85188)
- Scoliosis (HP:0002650): The presence of an abnormal lateral curvature of the spine. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:85188)
- Premature loss of primary teeth (HP:0006323): Loss of the primary (also known as deciduous) teeth before the usual age. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:85188)