Microphthalmia with Linear Skin Defects Syndrome
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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 practicing medicine in Milan, Italy. Ms. Indrieri is rated as an Elite expert by MediFind in the treatment of Microphthalmia with Linear Skin Defects Syndrome. She is also highly rated in 2 other conditions, according to our data. Her clinical expertise encompasses Microphthalmia with Linear Skin Defects Syndrome, Microphthalmia, Retinopathy Pigmentary Mental Retardation, and Hepatocerebral Degeneration.

Experienced in Microphthalmia with Linear Skin Defects Syndrome
Dr. Zeina M. Salem
Ophthalmology
Experienced in Microphthalmia with Linear Skin Defects Syndrome
Dr. Zeina M. Salem
Ophthalmology

St. Christopher's Pediatric Associates Ophthalmology - E. Erie Avenue

160 E Erie Ave, 
Philadelphia, PA 
215-427-8120
Languages Spoken:
English
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. Dr. Salem is rated as an Experienced provider by MediFind in the treatment of Microphthalmia with Linear Skin Defects Syndrome. She is also highly rated in 1 other condition, according to our data. Her clinical expertise encompasses Strabismus, Esotropia, Blocked Tear Duct, and Epicanthal Folds. Dr. Salem is board certified in  .

 
 
 
 
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Distinguished in Microphthalmia with Linear Skin Defects Syndrome
Dr. Cagri G. Besirli
Ophthalmology
Distinguished in Microphthalmia with Linear Skin Defects Syndrome
Dr. Cagri G. Besirli
Ophthalmology

Kellogg Eye Center

1000 Wall St, Elevator B Floor 2, 
Ann Arbor, MI 
734-763-5874
Languages Spoken:
English
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Cagri Besirli is an Ophthalmologist practicing medicine in Ann Arbor, Michigan. Dr. Besirli is rated as a Distinguished provider by MediFind in the treatment of Microphthalmia with Linear Skin Defects Syndrome. He is also highly rated in 36 other conditions, according to our data. His clinical expertise encompasses Retinal Detachment, Late-Onset Retinal Degeneration, Stickler Syndrome, Vitrectomy, and Trabeculectomy. Dr. Besirli is board certified in Ophthalmology.

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