Phenotypes associated with the disease Spondylometaphyseal dysplasia, 'corner fracture' type (ORPHA:93315):
- Coxa vara (HP:0002812): Coxa vara includes all forms of decrease of the femoral neck shaft angle (the angle between the neck and the shaft of the femur) to less than 120 degrees. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:93315)
- Metaphyseal irregularity (HP:0003025): Irregularity of the normally smooth surface of the metaphyses. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:93315)
- Ovoid vertebral bodies (HP:0003300): When viewed in lateral radiographs, vertebral bodies have a roughly rectangular configuration. This term applies if the vertebral body appears rounded or oval. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:93315)
- Abnormal vertebral morphology (HP:0003468): An abnormality of one or more of the vertebrae. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:93315)
- Corner fracture of metaphysis (HP:0003908): Fracture or fragmentation at the lateral portion of the metaphysis of a long bone. The radiographic appearance is that of a small corner of metaphysis separated from the metaphyseal edge by thin linear radiolucency. This feature can be observed in child abuse but fragmented appearance of the metaphysis or facture-like lesions can also be detected in the setting of certain skeletal dysplasias. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:93315)
- 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: Very frequent (HP:0040281). (ORPHA:93315)
- Pectus carinatum (HP:0000768): A deformity of the chest caused by overgrowth of the ribs and characterized by protrusion of the sternum. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:93315)
- 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:93315)
- Scoliosis (HP:0002650): The presence of an abnormal lateral curvature of the spine. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:93315)
- Genu valgum (HP:0002857): The legs angle inward, such that the knees are close together and the ankles far apart. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:93315)
- Genu varum (HP:0002970): A positional abnormality marked by outward bowing of the legs in which the knees stay wide apart when a person stands with the feet and ankles together. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:93315)
- Short long bone (HP:0003026): One or more abnormally short long bone. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:93315)
- Disproportionate short-trunk short stature (HP:0003521): A type of disproportionate short stature characterized by a short trunk but a average-sized limbs. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:93315)
- Short lower limbs (HP:0006385): Shortening of the legs related to developmental hypoplasia of the bones of the leg. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:93315)
- Limb pain (HP:0009763): Chronic pain in the limbs with no clear focal etiology. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:93315)
- Upper limb undergrowth (HP:0009824): Arm shortening because of underdevelopment of one or more bones of the upper extremity. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:93315)
- Abnormal bone ossification (HP:0011849): Any anomaly in the formation of bone or of a bony substance, or the conversion of fibrous tissue or of cartilage into bone or a bony substance. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:93315)
- High palate (HP:0000218): Height of the palate more than 2 SD above the mean (objective) or palatal height at the level of the first permanent molar more than twice the height of the teeth (subjective). Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:93315)
- Pointed chin (HP:0000307): A marked tapering of the lower face to the chin. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:93315)
- Facial asymmetry (HP:0000324): An abnormal difference between the left and right sides of the face. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:93315)
- Posteriorly rotated ears (HP:0000358): A type of abnormal location of the ears in which the position of the ears is characterized by posterior rotation (the superior part of the ears is rotated towards the back of the head, and the inferior part of the ears towards the front). Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:93315)
- Preauricular skin tag (HP:0000384): A rudimentary tag of skin often containing ear tissue including a core of cartilage and located just anterior to the auricle (outer part of the ear). Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:93315)
- Small earlobe (HP:0000385): Reduced volume of the earlobe. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:93315)
- Protruding ear (HP:0000411): Angle formed by the plane of the ear and the mastoid bone greater than the 97th centile for age (objective); or, outer edge of the helix more than 2 cm from the mastoid at the point of maximum distance (objective). Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:93315)
- Visual impairment (HP:0000505): Visual impairment (or vision impairment) is vision loss (of a person) to such a degree as to qualify as an additional support need through a significant limitation of visual capability resulting from either disease, trauma, or congenital or degenerative conditions that cannot be corrected by conventional means, such as refractive correction, medication, or surgery. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:93315)
- Proptosis (HP:0000520): An eye that is protruding anterior to the plane of the face to a greater extent than is typical. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:93315)
- Myopia (HP:0000545): An abnormality of refraction characterized by the ability to see objects nearby clearly, while objects in the distance appear blurry. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:93315)
- Platyspondyly (HP:0000926): A flattened vertebral body shape with reduced distance between the vertebral endplates. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:93315)
- Lumbar hyperlordosis (HP:0002938): An abnormal accentuation of the inward curvature of the spine in the lumbar region. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:93315)
- Intervertebral space narrowing (HP:0002945): Decreased height of the intervertebral disk. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:93315)
- Vertebral fusion (HP:0002948): A developmental defect leading to the union of two adjacent vertebrae. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:93315)
- Tibial bowing (HP:0002982): A bending or abnormal curvature of the tibia. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:93315)
- Biconcave vertebral bodies (HP:0004586): Exaggerated concavity of the anterior or posterior surface of the vertebral body, i.e., the upper and lower vertebral endplates are hollowed inward. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:93315)
- Biconvex vertebral bodies (HP:0004625): Presence of abnormal convexity of the upper and lower end plates of the vertebrae, i.e., an exaggerated bulging out of the upper and lower vertebral end plates. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:93315)
- Vertebral hypoplasia (HP:0008417): Small, underdeveloped vertebral bodies. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:93315)
- Vertebral wedging (HP:0008422): An abnormal shape of the vertebral bodies whereby the vertebral bodies are thick on one side and taper to a thin edge at the other. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:93315)
- Underfolded helix (HP:0008577): Underdevelopment of the helix that either affects the entire helix, or is localized. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:93315)
- Abnormal antitragus morphology (HP:0009896): An abnormality of the antitragus, which is a small tubercle opposite to the tragus of the ear. The antitragus and the tragus are separated by the intertragic notch. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:93315)
- Flat face (HP:0012368): Absence of concavity or convexity of the face when viewed in profile. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:93315)
- Lower limb asymmetry (HP:0100559): A difference in length or diameter between the left and right leg. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:93315)
- Abnormality of the dentition (HP:0000164): Any abnormality of the teeth. Evidence: TAS. Frequency: Very rare (HP:0040284). (ORPHA:93315)
- Short neck (HP:0000470): Diminished length of the neck. Evidence: TAS. Frequency: Very rare (HP:0040284). (ORPHA:93315)
- Strabismus (HP:0000486): A misalignment of the eyes so that the visual axes deviate from bifoveal fixation. The classification of strabismus may be based on a number of features including the relative position of the eyes, whether the deviation is latent or manifest, intermittent or constant, concomitant or otherwise and according to the age of onset and the relevance of any associated refractive error. Evidence: TAS. Frequency: Very rare (HP:0040284). (ORPHA:93315)
- Iron deficiency anemia (HP:0001891). Evidence: TAS. Frequency: Very rare (HP:0040284). (ORPHA:93315)
- Increased susceptibility to fractures (HP:0002659): An abnormally increased tendency to fractures of bones caused by an abnormal reduction in bone strength that is generally associated with an increased risk of fracture. Evidence: TAS. Frequency: Very rare (HP:0040284). (ORPHA:93315)
- Hypoplastic iliac wing (HP:0002866): Underdevelopment of the ilium ala. Evidence: TAS. Frequency: Very rare (HP:0040284). (ORPHA:93315)
- Reduced bone mineral density (HP:0004349): A reduction of bone mineral density, that is, of the amount of matter per cubic centimeter of bones. Evidence: TAS. Frequency: Very rare (HP:0040284). (ORPHA:93315)
- Avascular necrosis of the capital femoral epiphysis (HP:0005743): Avascular necrosis of the proximal epiphysis of the femur occurring in growing children and caused by an interruption of the blood supply to the head of the femur close to the hip joint. The necrosis is characteristically associated with flattening of the femoral head, for which reason the term coxa plana has been used to refer to this feature in the medical literature. Evidence: TAS. Frequency: Very rare (HP:0040284). (ORPHA:93315)
- Ocular hypertension (HP:0007906): Intraocular pressure that is 2 standard deviations above the population mean. Evidence: TAS. Frequency: Very rare (HP:0040284). (ORPHA:93315)
- C1-C2 vertebral abnormality (HP:0008440): Any abnormality of the atlas and the axis. Evidence: TAS. Frequency: Very rare (HP:0040284). (ORPHA:93315)
- Short distal phalanx of finger (HP:0009882): 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. Evidence: TAS. Frequency: Very rare (HP:0040284). (ORPHA:93315)
- Clinodactyly (HP:0030084): An angulation of a digit at an interphalangeal joint in the plane of the palm (finger) or sole (toe). Evidence: TAS. Frequency: Very rare (HP:0040284). (ORPHA:93315)
- Abnormal circulating osteocalcin level (HP:0031427): A deviation from the normal concentration of osteocalcin in the blood circulation. Evidence: TAS. Frequency: Very rare (HP:0040284). (ORPHA:93315)
- 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: Very rare (HP:0040284). (ORPHA:93315)