Microphthalmia with Linear Skin Defects Syndrome Overview

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Learn About Microphthalmia with Linear Skin Defects Syndrome

What is the definition of Microphthalmia with Linear Skin Defects Syndrome?
Microphthalmia with linear skin defects syndrome (MLS syndrome) is a genetic condition that affects the eyes and skin. It is mainly found in females and is characterized by small or poorly developed eyes (microphthalmia) and characteristic linear skin markings on the head and neck. The signs and symptoms of this condition may include abnormalities of the brain, heart, and genitourinary system. Other symptoms may include short stature, developmental delay, and finger and toenails that do not grow normally (nail dystrophy). MLS syndrome is typically caused by either a deletion of certain genetic material on the p (short) arm of the X chromosome or by a genetic change in the HCCS gene. In some cases, it may be caused by genetic changes in the COX7B and NDUFB11 genes, (also located on the X chromosome). This condition is inherited in an X-linked manner and is thought to result in serious early developmental concerns in males, leading to almost no males with this condition surviving to delivery.
What are the alternative names for Microphthalmia with Linear Skin Defects Syndrome?
  • Microphthalmia with linear skin defects syndrome
  • Linear skin defects with multiple congenital anomalies 1
  • MCOPS7
  • MIDAS syndrome
  • MLS syndrome
  • Microphthalmia Dermal Aplasia and Sclerocornea syndrome
  • Microphthalmia with linear skin defects
  • Microphthalmia-dermal aplasia-sclerocornea syndrome
  • Micropthalmia syndromic 7
  • Syndromic microphthalmia type 7
Who are the top Microphthalmia with Linear Skin Defects Syndrome Local Doctors?
Ophthalmology
Ophthalmology

Cleveland Clinic

2000 Auburn Dr, Suite 100, 
Beachwood, OH 
 (23.5 mi)
Languages Spoken:
English
Accepting New Patients

Allen Roth is an Ophthalmologist in Beachwood, Ohio. Dr. Roth and is rated as an Advanced provider by MediFind in the treatment of Microphthalmia with Linear Skin Defects Syndrome. His top areas of expertise are Cataract, Subconjunctival Hemorrhage, Eyelid Bump, and Chalazion. Dr. Roth is currently accepting new patients.

Osu Eye Physicians And Surgeons, LLC

915 Olentangy River Rd, Fl 5, 
Columbus, OH 
 (106.8 mi)
Languages Spoken:
English
Accepting New Patients

Andrew Hendershot is an Ophthalmologist in Columbus, Ohio. Dr. Hendershot and is rated as an Advanced provider by MediFind in the treatment of Microphthalmia with Linear Skin Defects Syndrome. His top areas of expertise are Keratoconus, Coloboma, Coloboma of Iris, Cataract, and Corneal Transplant. Dr. Hendershot is currently accepting new patients.

 
 
 
 
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Cleveland Clinic

9500 Euclid Ave, 
Cleveland, OH 
 (21.6 mi)
Languages Spoken:
English
Accepting New Patients

Michael Millstein is an Ophthalmologist in Cleveland, Ohio. Dr. Millstein and is rated as an Experienced provider by MediFind in the treatment of Microphthalmia with Linear Skin Defects Syndrome. His top areas of expertise are Cataract, Glaucoma, Ocular Hypertension (OHT), and Interstitial Keratitis. Dr. Millstein is currently accepting new patients.

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