What is the definition of Gomez Lopez Hernandez Syndrome?
Gomez Lopez Hernandez syndrome (GLHS) is a rare condition characterized by partial scalp baldness (alopecia); numbness of the face, eyes, sinuses, and mouth (trigeminal anesthesia); and a brain abnormality called rhombencephalosynapsis. Additional symptoms vary but may include distinctive facial features, intellectual disability or other neurological problems, and craniofacial abnormalities. The cause of GLHS is poorly understood. It may be genetic, possibly with autosomal recessive inheritance. Treatment depends on the signs and symptoms present in each person.
What are the alternative names for Gomez Lopez Hernandez Syndrome?
- Cerebellotrigeminal-dermal dysplasia
- Cerebellotrigeminal dermal dysplasia
- Gomez-Lopez-Hernández syndrome
- Cerebellotrigeminal-dermal dysplasia syndrome
- Craniosynostosis-alopecia-brain defect syndrome
What are the causes for Gomez Lopez Hernandez Syndrome?
The cause of Gomez Lopez Hernandez syndrome (GLHS) currently is unknown. While it occurs sporadically, researchers have suspected that it has a genetic basis. However, no specific gene mutations or chromosome abnormalities that cause GLHS have been identified yet. Three cases have been associated with consanguinity (when parents are related), suggesting the possibility of autosomal recessive inheritance. Further studies need to be performed to find the underlying cause of GLHS.
What are the symptoms for Gomez Lopez Hernandez Syndrome?
Gomez Lopez Hernandez syndrome is primarily characterized by:
- Rhombencephalosynapsis - partial or total absence of the cerebellar vermis (the area between the two cerebellar hemispheres) and fusion of the hemispheres
- Trigeminal anesthesia - a neurological disorder that causes numbness of the face, eyes, sinuses, and mouth
- Scalp alopecia - partial or complete hair loss
Other signs and symptoms vary but may include:
- Poor muscle tone (hypotonia)
- Behavioral abnormalities
- Intellectual disability
- Developmental delay
- Craniofacial abnormalities
- Corneal opacities (clouding of the clear front covering of the eye)
- Short stature
- Distinctive facial features (i.e. wide-spaced eyes and low-set, posteriorly rotated ears)