Phenotypes associated with the disease Axial spondylometaphyseal dysplasia (ORPHA:168549):
- Rod-cone dystrophy (HP:0000510): An inherited retinal disease subtype in which the rod photoreceptors appear to be more severely affected than the cone photoreceptors. Typical presentation is with nyctalopia (due to rod dysfunction) followed by loss of mid-peripheral field of vision, which gradually extends and leaves many patients with a small central island of vision due to the preservation of macular cones. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:168549)
- Retinal dystrophy (HP:0000556): Retinal dystrophy is an abnormality of the retina associated with a hereditary process. Retinal dystrophies are defined by their predominantly monogenic inheritance and they are frequently associated with loss or dysfunction of photoreceptor cells as a primary or secondary event. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:168549)
- Short ribs (HP:0000773): Reduced rib length. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:168549)
- Narrow chest (HP:0000774): Reduced width of the chest from side to side, associated with a reduced distance from the sternal notch to the tip of the shoulder. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:168549)
- Deformed rib cage (HP:0000886): Malformation of the rib cage. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:168549)
- Cupped ribs (HP:0000887): Wide, concave rib end. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:168549)
- Growth delay (HP:0001510): A deficiency or slowing down of growth pre- and postnatally. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:168549)
- Abnormal ilium morphology (HP:0002867): An abnormality of the ilium, the largest and uppermost bone of the pelvis. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:168549)
- 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:168549)
- Thoracic hypoplasia (HP:0005257). Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:168549)
- Abnormal proximal femoral metaphysis morphology (HP:0006431): An anomaly of the metaphysis of the proximal femur (close to the hip). Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:168549)
- Reduced visual acuity (HP:0007663). Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:168549)
- Iliac crest serration (HP:0008786): Irregularities of the iliac crest that produce the appearance of a lace border around it. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:168549)
- Upper limb undergrowth (HP:0009824): Arm shortening because of underdevelopment of one or more bones of the upper extremity. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:168549)
- Abnormality of the thoracic cavity (HP:0045027). Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:168549)
- Platyspondyly (HP:0000926): A flattened vertebral body shape with reduced distance between the vertebral endplates. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:168549)
- Neonatal respiratory distress (HP:0002643): Respiratory difficulty as newborn. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:168549)
- 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: Frequent (HP:0040282). (ORPHA:168549)
- Proximal femoral metaphyseal irregularity (HP:0003411): Irregularity of the normally smooth surface of the proximal metaphysis of the femur. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:168549)
- Abnormal metacarpal morphology (HP:0005916): Any abnormal shape or structure of the metacarpal bones. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:168549)
- Flaring of lower rib cage (HP:0006589). Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:168549)
- Flared, irregular rib ends (HP:0006603). Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:168549)
- Aplasia/Hypoplasia of the ribs (HP:0006712). Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:168549)
- Aplasia/Hypoplasia of the vertebrae (HP:0008515). Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:168549)
- Flattened femoral head (HP:0008812): An abnormally flattened femoral head. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:168549)
- Respiratory tract infection (HP:0011947): An infection of the upper or lower respiratory tract. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:168549)
- Increased upper to lower segment ratio (HP:0012774): Elevated ratio between the upper and the lower segment of the body, where the lower segment is defined as the length between the top of pubic symphysis to floor, and the upper segment is defined as the top of head to top of pubic symphysis. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:168549)
- Ptosis (HP:0000508): The upper eyelid margin is positioned 3 mm or more lower than usual and covers the superior portion of the iris (objective); or, the upper lid margin obscures at least part of the pupil (subjective). Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:168549)
- Cataract (HP:0000518): A cataract is an opacity or clouding that develops in the crystalline lens of the eye or in its capsule. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:168549)
- Photophobia (HP:0000613): Excessive sensitivity to light with the sensation of discomfort or pain in the eyes due to exposure to bright light. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:168549)
- Nystagmus (HP:0000639): Rhythmic, involuntary oscillations of one or both eyes related to abnormality in fixation, conjugate gaze, or vestibular mechanisms. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:168549)
- Amblyopia (HP:0000646): Reduced visual acuity that is uncorrectable by lenses in the absence of detectable anatomic defects in the eye or visual pathways. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:168549)
- Optic atrophy (HP:0000648): Atrophy of the optic nerve. Optic atrophy results from the death of the retinal ganglion cell axons that comprise the optic nerve and manifesting as a pale optic nerve on fundoscopy. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:168549)
- 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:168549)
- Delayed ossification of carpal bones (HP:0001216): Ossification of carpal bones occurs later than age-adjusted norms. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:168549)
- Mild postnatal growth retardation (HP:0001530): A mild degree of slow or limited growth after birth, being between two and three standard deviations below age- and sex-related norms. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:168549)
- Scoliosis (HP:0002650): The presence of an abnormal lateral curvature of the spine. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:168549)
- Hypoplastic iliac wing (HP:0002866): Underdevelopment of the ilium ala. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:168549)
- Thoracic scoliosis (HP:0002943). Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:168549)
- Acromesomelia (HP:0003086): Small hands and feet. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:168549)
- Flat acetabular roof (HP:0003180): Flattening of the superior part of the acetabulum, which is a cup-shaped cavity at the base of the hipbone into which the ball-shaped head of the femur fits. The acetabular roof thereby appears horizontal rather than arched, as it normally does. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:168549)
- Narrow greater sciatic notch (HP:0003375): A narrowing of the sacrosciatic notch, i.e., the deep indentation in the posterior border of the hip bone at the point of union of the ilium and ischium. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:168549)
- 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: Occasional (HP:0040283). (ORPHA:168549)
- Dyschromatopsia (HP:0007641): A form of colorblindness in which only two of the three fundamental colors can be distinguished due to a lack of one of the retinal cone pigments. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:168549)
- Peripheral retinal degeneration (HP:0007769): Progressive loss of peripheral retinal pigment epithelium (RPE) and/or neurosensory retinal cells. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:168549)
- Posterior wedging of vertebral bodies (HP:0008444): An abnormality of the shape of vertebrae, such that they are wedge-shaped (narrow towards the back). Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:168549)
- Short femoral neck (HP:0100864): An abnormally short femoral neck (which is the process of bone, connecting the femoral head with the femoral shaft). Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:168549)