Learn About Lissencephaly 2

What is the definition of Lissencephaly 2?
Lissencephaly 2 is an inherited condition characterized by classical lissencephaly in association with certain abnormalities of the skull and facial (craniofacial) region, such as a low, sloping forehead; abnormal prominence of the back portion of the head (occiput); a broad, prominent nasal bridge; and widely set eyes (ocular hypertelorism). Additional symptoms and findings typically include severe or profound intellectual disability, seizures, abnormally increased muscle tone (hypertonia), exaggerated reflexes (hyperreflexia), and severe growth failure. This condition is inherited in an autosomal recessive fashion. Mutations in the RELN gene have been identified in some affected individuals.
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What are the alternative names for Lissencephaly 2?
  • LIS2
  • Norman Roberts lissencephaly syndrome
  • Lissencephaly syndrome Norman-Roberts type
Who are the top Lissencephaly 2 Local Doctors?
WD
Dr. William B. Dobyns
Neurology | Pediatrics
Distinguished
Highly rated in
77
conditions
Neurology
Pediatrics

M Health Fairview University Of Minnesota Medical Center - West Bank Hospital

Chicago, IL 

William Dobyns is a Neurologist and a Pediatrics doctor in Chicago, Illinois. Dr. Dobyns has been practicing medicine for over 44 years and is rated as a Distinguished doctor by MediFind in the treatment of Lissencephaly 2. He is also highly rated in 77 other conditions, according to our data. His top areas of expertise are Lissencephaly, Increased Head Circumference, Cortical Dysplasia, and Polymicrogyria. He is licensed to treat patients in Illinois and Washington. Dr. Dobyns is currently accepting new patients.

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FR
Ferechte Razavi-Encha
Distinguished
Highly rated in
23
conditions

Hôpital Necker Enfants Malades

Paris, FR 

Ferechte Razavi-Encha is in Paris, France. Razavi-Encha is rated as a Distinguished expert by MediFind in the treatment of Lissencephaly 2. They are also highly rated in 23 other conditions, according to our data. Their top areas of expertise are Lissencephaly 2, Acrocallosal Syndrome, Curry Jones Syndrome, and Polydactyly.

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SB
Sandrine Barrot-Vuillaumier
Distinguished
Highly rated in
14
conditions

Hôpital Bichat Claude Bernard

Paris, FR 

Sandrine Barrot-Vuillaumier is in Paris, France. Barrot-Vuillaumier is rated as a Distinguished expert by MediFind in the treatment of Lissencephaly 2. She is also highly rated in 14 other conditions, according to our data. Her top areas of expertise are ALG3-CDG, Lissencephaly 2, Walker-Warburg Syndrome, and Lissencephaly.

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What are the latest Lissencephaly 2 Clinical Trials?
Congenital Muscle Disease Patient and Proxy Reported Outcome Study
Status: Recruiting
Start Date: September 2009
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Summary: The Congenital Muscle Disease Patient and Proxy Reported Outcome Study (CMDPROS) is a longitudinal 10 year study to identify and trend care parameters, adverse events in the congenital muscle diseases using the Congenital Muscle Disease International Registry (CMDIR) to acquire necessary data for adverse event calculations (intake survey and medical records curation). To support this study and bec...
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The Global FKRP Patient Registry
Status: Recruiting
Start Date: November 2013
Intervention Type: Other
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Summary: Mutations in the Fukutin Related Protein (FKRP) gene cause the condition Limb Girdle Muscular Dystrophy type 2I (LGMD2I) also known as LGMDR9, and the rarer conditions Congenital Muscular Dystrophy (MDC1C), Muscle Eye Brain Disease (MEB) and Walker-Warburg Syndrome (WWS). LGMD2I is the most common FKRP-related condition, and is especially prevalent in Northern Europe.~The aim is to facilitate a qu...
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What are the Latest Advances for Lissencephaly 2?

There is no recent research available for this condition. Please check back because thousands of new papers are published every week and we strive to find and display the most recent relevant research as soon as it is available.