Spondylometaphyseal dysplasia with cone-rod dystrophy

Editor-In-Chief: Prab R Tumpati, MD
Obesity, Sleep & Internal medicine
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Spondylometaphyseal dysplasia with cone-rod dystrophy
Synonyms
Pronounce
Specialty	Medical genetics
Symptoms	Skeletal dysplasia, vision loss
Complications	N/A
Onset
Duration
Types
Causes	Mutations in the PCYT1A gene
Risks
Diagnosis	Genetic testing, clinical evaluation
Differential diagnosis
Prevention
Treatment	Supportive care
Medication
Prognosis
Frequency	Rare
Deaths

Spondylometaphyseal dysplasia with cone-rod dystrophy is a rare genetic disorder characterized by skeletal abnormalities and progressive vision loss. This condition is part of a group of disorders known as spondylometaphyseal dysplasias, which affect the spine and the metaphyses of long bones.

Clinical Features

Individuals with spondylometaphyseal dysplasia with cone-rod dystrophy typically present with a combination of skeletal and ocular symptoms. The skeletal abnormalities often include short stature, abnormal curvature of the spine (scoliosis or kyphosis), and metaphyseal changes in the long bones. These changes can lead to joint pain and limited mobility. The ocular component, cone-rod dystrophy, involves the progressive degeneration of the cone and rod photoreceptor cells in the retina. This leads to symptoms such as decreased visual acuity, photophobia, and loss of peripheral vision. Night blindness is also a common feature due to the involvement of rod cells.

Genetics

Spondylometaphyseal dysplasia with cone-rod dystrophy is inherited in an autosomal recessive manner. This means that an affected individual must inherit two copies of the mutated gene, one from each parent. The specific gene mutations responsible for this condition have been identified in some cases, but the genetic basis may vary among different families.

Diagnosis

Diagnosis of spondylometaphyseal dysplasia with cone-rod dystrophy is based on clinical evaluation, radiographic findings, and genetic testing. Radiographs typically show metaphyseal irregularities and spinal abnormalities. Genetic testing can confirm the diagnosis by identifying mutations in the associated gene.

Management

Management of this condition is symptomatic and supportive. Orthopedic interventions may be necessary to address skeletal deformities and improve mobility. Regular ophthalmologic evaluations are important to monitor and manage the progression of cone-rod dystrophy. Low vision aids and other supportive measures can help individuals cope with vision loss.

Prognosis

The prognosis for individuals with spondylometaphyseal dysplasia with cone-rod dystrophy varies depending on the severity of the skeletal and ocular manifestations. While skeletal issues can often be managed with appropriate interventions, the progressive nature of cone-rod dystrophy typically leads to significant visual impairment over time.

See also

• Spondylometaphyseal dysplasia
• Cone-rod dystrophy
• Autosomal recessive inheritance
• Skeletal dysplasia