Cranio-lenticulo-sutural dysplasia

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Cranio-lenticulo-sutural dysplasia
Protein SEC23A
Synonyms CLSD
Pronounce
Specialty Medical genetics
Symptoms Craniosynostosis, cataracts, sutural cataracts, skeletal dysplasia
Complications N/A
Onset
Duration
Types
Causes Mutations in the SEC23A gene
Risks
Diagnosis Genetic testing, clinical evaluation
Differential diagnosis
Prevention
Treatment Supportive care, surgery for craniosynostosis
Medication
Prognosis
Frequency Rare
Deaths


A rare genetic disorder affecting cranial and skeletal development


Cranio-lenticulo-sutural dysplasia (CLSD) is a rare genetic disorder characterized by distinctive craniofacial abnormalities, skeletal malformations, and other systemic features. It is an autosomal recessive condition, meaning that an individual must inherit two copies of the mutated gene, one from each parent, to be affected by the disorder.

Genetics[edit | edit source]

Cranio-lenticulo-sutural dysplasia is caused by mutations in the SEC23A gene, which plays a crucial role in the transport of proteins within cells. The SEC23A gene is involved in the formation of COPII-coated vesicles, which are essential for the transport of proteins from the endoplasmic reticulum to the Golgi apparatus. Mutations in this gene disrupt normal protein trafficking, leading to the clinical manifestations of the disorder.

Clinical Features[edit | edit source]

Individuals with cranio-lenticulo-sutural dysplasia typically present with a range of clinical features, including:

Diagnosis[edit | edit source]

The diagnosis of cranio-lenticulo-sutural dysplasia is based on clinical evaluation, family history, and genetic testing. Imaging studies such as X-rays and CT scans can reveal characteristic skeletal and cranial abnormalities. Genetic testing can confirm the diagnosis by identifying mutations in the SEC23A gene.

Management[edit | edit source]

There is no cure for cranio-lenticulo-sutural dysplasia, and treatment is primarily supportive and symptomatic. Management may involve:

  • Surgical Interventions: Surgery may be required to correct cranial and skeletal deformities.
  • Vision and Hearing Support: Regular ophthalmologic and audiologic evaluations are important to address visual and hearing impairments.
  • Developmental Support: Early intervention programs and special education services can help manage developmental delays and intellectual disabilities.

Prognosis[edit | edit source]

The prognosis for individuals with cranio-lenticulo-sutural dysplasia varies depending on the severity of the condition and the presence of associated complications. With appropriate management, many individuals can lead relatively normal lives, although they may require ongoing medical care and support.

See also[edit | edit source]

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Contributors: Prab R. Tumpati, MD