Osteoporosis-pseudoglioma syndrome

Also known as: OPPG; osteogenesis imperfecta, ocular form

Definition

Genetics Home Reference

Osteoporosis-pseudoglioma syndrome is a rare condition characterized by severe thinning of the bones (osteoporosis) and eye abnormalities that lead to vision loss. In people with this condition, osteoporosis is usually recognized in early childhood. It is caused by a shortage of minerals, such as calcium, in bones (decreased bone mineral density), which makes the bones brittle and prone to fracture. Affected individuals often have multiple bone fractures, including in the bones that form the spine (vertebrae). Multiple fractures can cause collapse of the affected vertebrae (compressed vertebrae), abnormal side-to-side curvature of the spine (scoliosis), short stature, and limb deformities. Decreased bone mineral density can also cause softening or thinning of the skull (craniotabes).

Most affected individuals have impaired vision at birth or by early infancy and are blind by young adulthood. Vision problems are usually caused by one of several eye conditions, grouped together as pseudoglioma, that affect the light-sensitive tissue at the back of the eye (the retina), although other eye conditions have been identified in affected individuals. Pseudogliomas are so named because, on examination, the conditions resemble an eye tumor known as a retinal glioma.

Rarely, people with osteoporosis-pseudoglioma syndrome have additional signs or symptoms such as mild intellectual disability, weak muscle tone (hypotonia), abnormally flexible joints, or seizures.

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Orphanet

Osteoporosis pseudoglioma syndrome is a very rare autosomal recessive disorder characterized by congenital or infancy-onset blindness and severe juvenile-onset osteoporosis and spontaneous fractures.

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Symptoms

Medical Term Other Names Description
Scoliosis Curved spine, Abnormal curving of the spine, Curvature of spine [more] The presence of an abnormal lateral curvature of the spine.
Joint hypermobility Double-Jointed, Extensible joints, Increased mobility of joints, Flexible joints, Joint hyperextensibility, Hyperextensible joints [more] The ability of a joint to move beyond its normal range of motion.
Pathologic fracture Spontaneous fractures A pathologic fracture occurs when a bone breaks in an area that is weakened secondary to another disease process such as tumor, infection, and certain inherited bone disorders. A pathologic fracture can occur without a degree of trauma required to cause fracture in healthy bone.
Neoplasm Oncological abnormality, Neoplasia, Oncology, Tumor, Tumour [more] An organ or organ-system abnormality that consists of uncontrolled autonomous cell-proliferation which can occur in any part of the body as a benign or malignant neoplasm (tumour).
Generalized hypotonia Generalized muscular hypotonia, Decreased muscle tone, Low muscle tone, Hypotonia [more] Generalized muscular hypotonia (abnormally low muscle tone).
Visual impairment Impaired vision, Loss of eyesight, Poor vision [more] 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.
Short stature Decreased body height, Height less than 3rd percentile, Small stature, Stature below 3rd percentile [more] 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).
Neoplasm of the eye Eye tumor, Neoplasia of the eye A tumor (abnormal growth of tissue) of the eye.
Reduced bone mineral density Decreased bone mineral density Z score, Decreased bone mineral density A reduction of bone mineral density, that is, of the amount of matter per cubic centimeter of bones.
Blindness Legal blindness Blindness is the condition of lacking visual perception due to physiological or neurological factors.
Osteoporosis Osteoporosis is a systemic skeletal disease characterized by low bone density and microarchitectural deterioration of bone tissue with a consequent increase in bone fragility. According to the WHO, osteoporosis is characterized by a value of BMD 2.5 standard deviations or more below the young adult mean.
Recurrent fractures Varying degree of multiple fractures, Increased fracture rate, Increased fractures, Multiple fractures, Frequent fractures, Multiple spontaneous fractures [more] The repeated occurence of bone fractures (implying an abnormally increased tendency for fracture).
Intellectual disability Nonprogressive intellectual disability, Poor school performance, Mental-retardation, Dull intelligence, Nonprogressive mental retardation, Mental deficiency, Mental retardation, nonspecific, Low intelligence [more] Subnormal intellectual functioning which originates during the developmental period. Intellectual disability, previously referred to as mental retardation, has been defined as an IQ score below 70.

Other Classifiers and IDs

  • OrphaNet: ORPHA:2788
  • MedDRA: 10052452
  • MeSH: C536063
  • UMLS: C0432252
  • OMIM: 259770