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?
Elite in Microphthalmia with Linear Skin Defects Syndrome
Alessia Indrieri
Elite in Microphthalmia with Linear Skin Defects Syndrome
Alessia Indrieri
Milan, IT 

Alessia Indrieri practices in Milan, Italy. Ms. Indrieri is rated as an Elite expert by MediFind in the treatment of Microphthalmia with Linear Skin Defects Syndrome. Her top areas of expertise are Microphthalmia with Linear Skin Defects Syndrome, Microphthalmia, Retinopathy Pigmentary Mental Retardation, and Hepatocerebral Degeneration.

Advanced in Microphthalmia with Linear Skin Defects Syndrome
Dr. Jennifer L. Rossen
Ophthalmology
Advanced in Microphthalmia with Linear Skin Defects Syndrome
Dr. Jennifer L. Rossen
Ophthalmology
225 E Chicago Ave # 70, 
Chicago, IL 
312-227-6180
Languages Spoken:
English, Spanish
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Jennifer Rossen is an Ophthalmologist in Chicago, Illinois. Dr. Rossen is rated as an Advanced provider by MediFind in the treatment of Microphthalmia with Linear Skin Defects Syndrome. Her top areas of expertise are Congenital Cataract, Ocular Albinism, Microphthalmia Syndromic 9, Lenz Microphthalmia Syndrome, and Trabeculectomy.

 
 
 
 
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Advanced in Microphthalmia with Linear Skin Defects Syndrome
Dr. Safa Rahmani
Ophthalmology
Advanced in Microphthalmia with Linear Skin Defects Syndrome
Dr. Safa Rahmani
Ophthalmology

Northwestern Medical Faculty Foundation

Chicago, IL 
312-695-8150
Languages Spoken:
English
See accepted insurances
Accepting New Patients
Offers Telehealth

Safa Rahmani is an Ophthalmologist in Chicago, Illinois. Dr. Rahmani is rated as an Advanced provider by MediFind in the treatment of Microphthalmia with Linear Skin Defects Syndrome. Her top areas of expertise are Stickler Syndrome, Coloboma, Incontinentia Pigmenti, Retinal Detachment, and Vitrectomy. Dr. Rahmani is currently accepting new patients.

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