Microphthalmia with Linear Skin Defects Syndrome Symptoms, Doctors, Treatments, Advances & More

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. Sharon F. Freedman

Ophthalmology | Pediatrics

Advanced in Microphthalmia with Linear Skin Defects Syndrome

Dr. Sharon F. Freedman

Ophthalmology | Pediatrics

Duke Eye Center

2351 Erwin Rd,

Durham, NC

919-681-3937

Languages Spoken:

English, French

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Accepting New Patients

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Sharon Freedman is an Ophthalmologist and a Pediatrics provider in Durham, North Carolina. Dr. Freedman is rated as an Advanced provider by MediFind in the treatment of Microphthalmia with Linear Skin Defects Syndrome. Her top areas of expertise are Retinopathy of Prematurity, Strabismus, Brown Syndrome, Trabeculectomy, and Cataract Removal. Dr. Freedman is currently accepting new patients.

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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, Micropthalmia Associated with Colobomatous Cyst, and Trabeculectomy.