Occipital Horn Syndrome Overview

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Learn About Occipital Horn Syndrome

What is the definition of Occipital Horn Syndrome?
Occipital horn syndrome (OHS) is a genetic condition that affects the connective tissue, skeleton, and nervous system. They may include wedge-shaped calcium deposits at the base of the skull (occipital horns), loose skin and joints, and dysfunction of the nerves that regulate nonvoluntary body functions (dysautonomia). Other symptoms may include bladder diverticula, coarse hair, low muscle tone, and mild intellectual disability. This condition is a milder form of Menkes disease, which affects copper levels in the body. OHS is caused by genetic changes (DNA variants) in the ATP7A gene, and it is inherited in an x-linked recessive pattern. It can be diagnosed based on the symptoms, genetic testing, and other blood tests.
What are the alternative names for Occipital Horn Syndrome?
  • Occipital horn syndrome
  • Cutis laxa X-linked
  • EDS IX (formerly)
  • Ehlers-Danlos syndrome, occipital horn type (formerly)
  • OHS
Who are the top Occipital Horn Syndrome Local Doctors?
Elite in Occipital Horn Syndrome
Dr. Stephen G. Kaler
Medical Genetics
Elite in Occipital Horn Syndrome
Dr. Stephen G. Kaler
Medical Genetics
5665 Venture Dr, 
Dublin, OH 
614-722-6200
Languages Spoken:
English, Japanese, Somali, Spanish
See accepted insurances
Accepting New Patients

Stephen Kaler is a Medical Genetics provider in Dublin, Ohio. Dr. Kaler is rated as an Elite provider by MediFind in the treatment of Occipital Horn Syndrome. His top areas of expertise are Menkes Disease, Occipital Horn Syndrome, Alpha Mannosidosis, and Mucopolysaccharidosis Type 3 (MPS III, Sanfilippo Syndrome). Dr. Kaler is currently accepting new patients.

Anthony T. Mccormack
Experienced in Occipital Horn Syndrome
Dr. Anthony T. Mccormack
Family Medicine
Experienced in Occipital Horn Syndrome
Dr. Anthony T. Mccormack
Family Medicine

Advocate Memory Center

1875 Dempster St, Ste 520, 
Park Ridge, IL 
847-720-6464
Languages Spoken:
English
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Offers Telehealth

Anthony Mccormack is a primary care provider, practicing in Family Medicine in Park Ridge, Illinois. Dr. Mccormack is rated as an Experienced provider by MediFind in the treatment of Occipital Horn Syndrome. His top areas of expertise are Dementia, Glucocorticoid-Remediable Aldosteronism, Familial Hypertension, and Hypertension.

 
 
 
 
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Jorge M. Leon
Advanced in Occipital Horn Syndrome
Dr. Jorge M. Leon
Neurology
Advanced in Occipital Horn Syndrome
Dr. Jorge M. Leon
Neurology

Aurora Neurology

1100 Gateway Ct, 
West Bend, WI 
262-335-8600
Languages Spoken:
English, Spanish
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Jorge Leon is a Neurologist in West Bend, Wisconsin. Dr. Leon is rated as an Advanced provider by MediFind in the treatment of Occipital Horn Syndrome. His top areas of expertise are Occipital Horn Syndrome, Seizures, Essential Tremor, and Menkes Disease.

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Published Date: May 02, 2022
Published By: Genetic and Rare Diseases Informnation Center