Gomez Lopez Hernandez syndrome

Common Name(s)

Gomez Lopez Hernandez syndrome, Cerebellotrigerminal dermal dysplasia

Gomez Lopez Hernandez syndrome (GLHS) is a rare condition characterized by a triad (3) of common symptoms including a malformation of the back part of the brain (rhombencephalosynapsis or RS), hair loss (alopecia) and nerve pain associated with the trigeminal nerve which affects the face (trigeminal anesthesia). Alopecia and trigeminal nerve pain may be mild and the alopecia tends to be seen on the sides of the head. Other findings may include skull abnormalities, facial differences, short stature, motor delays and low muscle tone. Intellectual impairment is typical in this condition but some reports of normal intelligence have been described. The underlying cause of this condition has not been determined. Facial differences and alopecia may be apparent very early in life and MRI of the brain can help determine the presence or absence of RS. RS can occur as an isolated finding meaning not associated with GLHS or other conditions. If RS is the first finding, other symptoms of GLHS should be sought to aid in diagnosis.

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Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Gomez Lopez Hernandez syndrome" for support, advocacy or research.

There are currently no organizations listed in Disease InfoSearch that support this condition. Create a listing.

 

 

General Support Organizations

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Scientific Literature

Articles from the PubMed Database

Research articles describe the outcome of a single study. They are the published results of original research.
The terms "Gomez Lopez Hernandez syndrome" returned 2 free, full-text research articles on human participants. First 3 results:

[Gomez-López-Hernández-Syndrome].
 

Author(s): M Lettau, R D Munk, S Munk-Schulenburg

Journal: Rofo. 2013 Jul;185(7):662-3.

 

Last Updated: 26 Jun 2013

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Beyond Gómez-López-Hernández syndrome: recurring phenotypic themes in rhombencephalosynapsis.
 

Author(s): Hannah M Tully, Jennifer C Dempsey, Gisele E Ishak, Margaret P Adam, Cynthia J R Curry, Pedro Sanchez-Lara, Alasdair Hunter, Karen W Gripp, Judith Allanson, Christopher Cunniff, Ian Glass, Kathleen J Millen, Daniel Doherty, William B Dobyns

Journal: Am. J. Med. Genet. A. 2012 Oct;158A(10):2393-406.

 

Rhombencephalosynapsis (RES) is an uncommon cerebellar malformation characterized by fusion of the hemispheres without an intervening vermis. Frequently described in association with Gómez-López-Hernández syndrome, RES also occurs in conjunction with VACTERL features and with holoprosencephaly ...

Last Updated: 21 Sep 2012

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Reviews from the PubMed Database

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The terms "Gomez Lopez Hernandez syndrome" returned 0 free, full-text review articles on human participants.

 
 
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Symptoms, Diagnosis, and Treatment

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