Spondyloepimetaphyseal dysplasia, Pakistani type

From WikiMD.com - Food, Medicine & Wellness Encyclopedia

Dr.Prab.jpg

Editor-In-Chief: Prab R Tumpati, MD
Obesity, Sleep & Internal medicine
Founder, WikiMD Wellnesspedia &
W8MD medical weight loss NYC and sleep center NYC

Spondyloepimetaphyseal dysplasia, Pakistani type
Autosomal recessive pattern
Synonyms
Pronounce
Specialty Medical genetics
Symptoms Short stature, skeletal dysplasia, joint pain
Complications N/A
Onset Childhood
Duration Lifelong
Types N/A
Causes Mutations in the KIAA0196 gene
Risks
Diagnosis Genetic testing, radiographic imaging
Differential diagnosis Other forms of spondyloepimetaphyseal dysplasia
Prevention
Treatment Supportive care, physical therapy
Medication
Prognosis Variable, depending on severity
Frequency Rare
Deaths


A rare genetic disorder affecting bone growth


Spondyloepimetaphyseal dysplasia, Pakistani type is a rare genetic disorder characterized by abnormalities in bone growth, particularly affecting the spine, epiphyses, and metaphyses. This condition is part of a group of disorders known as spondyloepimetaphyseal dysplasia (SEMD), which are distinguished by their specific patterns of skeletal abnormalities.

Genetics[edit | edit source]

Spondyloepimetaphyseal dysplasia, Pakistani type, is inherited in an autosomal recessive manner. This means that an individual must inherit two copies of the mutated gene, one from each parent, to be affected by the disorder. The specific gene mutation responsible for this type of SEMD has been identified in the PCYT1A gene, which plays a crucial role in phospholipid metabolism.

Clinical Features[edit | edit source]

Individuals with this condition typically present with short stature due to disproportionate shortening of the limbs. The spine may exhibit kyphoscoliosis, a combination of kyphosis and scoliosis, leading to a curved posture. Other skeletal abnormalities include:

Diagnosis[edit | edit source]

Diagnosis of Spondyloepimetaphyseal dysplasia, Pakistani type, is based on clinical evaluation, family history, and radiographic findings. Radiography can reveal characteristic skeletal abnormalities, such as platyspondyly and metaphyseal irregularities. Genetic testing can confirm the diagnosis by identifying mutations in the PCYT1A gene.

Management[edit | edit source]

There is currently no cure for Spondyloepimetaphyseal dysplasia, Pakistani type. Management focuses on addressing symptoms and improving quality of life. This may include:

  • Physical therapy to improve mobility and strengthen muscles.
  • Orthopedic surgery to correct severe skeletal deformities.
  • Regular monitoring by a multidisciplinary team to manage complications.

Prognosis[edit | edit source]

The prognosis for individuals with this condition varies depending on the severity of the skeletal abnormalities and associated complications. With appropriate management, individuals can lead fulfilling lives, although they may face challenges related to mobility and physical activity.

See also[edit | edit source]

WikiMD
Navigation: Wellness - Encyclopedia - Health topics - Disease Index‏‎ - Drugs - World Directory - Gray's Anatomy - Keto diet - Recipes

Search WikiMD

Ad.Tired of being Overweight? Try W8MD's physician weight loss program.
Semaglutide (Ozempic / Wegovy and Tirzepatide (Mounjaro / Zepbound) available.
Advertise on WikiMD

WikiMD's Wellness Encyclopedia

Let Food Be Thy Medicine
Medicine Thy Food - Hippocrates

Medical Disclaimer: WikiMD is not a substitute for professional medical advice. The information on WikiMD is provided as an information resource only, may be incorrect, outdated or misleading, and is not to be used or relied on for any diagnostic or treatment purposes. Please consult your health care provider before making any healthcare decisions or for guidance about a specific medical condition. WikiMD expressly disclaims responsibility, and shall have no liability, for any damages, loss, injury, or liability whatsoever suffered as a result of your reliance on the information contained in this site. By visiting this site you agree to the foregoing terms and conditions, which may from time to time be changed or supplemented by WikiMD. If you do not agree to the foregoing terms and conditions, you should not enter or use this site. See full disclaimer.
Credits:Most images are courtesy of Wikimedia commons, and templates, categories Wikipedia, licensed under CC BY SA or similar.

Contributors: Prab R. Tumpati, MD