What are the other Names for this Condition? (Also known as/Synonyms)

• Cerebellotrigeminal Dermal Dysplasia
• Cerebellotrigeminal-Dermal Dysplasia Syndrome
• Craniosynostosis-Alopecia-Brain Defect Syndrome

What is Gomez Lopez Hernandez Syndrome? (Definition/Background Information)

• 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 of Gomez Lopez Hernandez Syndrome vary but may include distinctive facial features, intellectual disability other neurological problems, and craniofacial abnormalities
• The cause of Gomez Lopez Hernandez Syndrome is poorly understood. It may be genetic, possibly with autosomal recessive inheritance
• Treatment of Gomez Lopez Hernandez Syndrome depends on the signs and symptoms present in each person

(Source: Gomez Lopez Hernandez Syndrome; Genetic and Rare Diseases Information Center (GARD) of National Center for Advancing Translational Sciences (NCATS), USA.)

Who gets Gomez Lopez Hernandez Syndrome? (Age and Sex Distribution)

• Gomez Lopez Hernandez Syndrome is a rare, congenital disorder. The presentation of symptoms may occur at birth
• Both males and females may be affected
• Worldwide, individuals of all racial and ethnic groups may be affected

What are the Risk Factors for Gomez Lopez Hernandez Syndrome? (Predisposing Factors)

• A positive family history may be an important risk factor, since Gomez Lopez Hernandez syndrome is an inherited condition
• Children of to consanguineous parents may bear an increased risk of being born with this syndrome

It is important to note that having a risk factor does not mean that one will get the condition. A risk factor increases one’s chances of getting a condition compared to an individual without the risk factors. Some risk factors are more important than others.

Also, not having a risk factor does not mean that an individual will not get the condition. It is always important to discuss the effect of risk factors with your healthcare provider.

What are the Causes of Gomez Lopez Hernandez Syndrome? (Etiology)

• The cause of Gomez Lopez Hernandez Syndrome 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

(Source: Gomez Lopez Hernandez Syndrome; Genetic and Rare Diseases Information Center (GARD) of National Center for Advancing Translational Sciences (NCATS), USA.)

Autosomal recessive inheritance: Autosomal recessive conditions are traits or disorders that occur when two copies of an abnormal gene have been inherited on a non-sex chromosome. If both parents have an autosomal recessive condition, there is a 100% likelihood of passing on the mutated genes to their children. If, however, only one mutant copy of the gene is inherited, the individual will be a carrier of the condition, but will not be present with any symptoms. Children born to two carriers, have a 25% chance of being homozygous dominant (unaffected), a 50% chance of being heterozygous (carrier), and a 25% chance of being homozygous recessive (affected).

What are the Signs and Symptoms of Gomez Lopez Hernandez Syndrome?

The signs and symptoms of Gomez Lopez Hernandez Syndrome may include:

• 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

Based on the frequency of symptoms observed, the following information may be noted:

Very frequently present symptoms in 80-99% of the cases:

• Abnormality of brain stem morphology
• Alopecia of scalp
• Ataxia
• Brachycephaly
• Cerebellar vermis hypoplasia
• Cognitive impairment
• Corneal opacity
• Hydrocephalus
• Impaired pain sensation
• Intellectual disability, moderate
• Low-set ears
• Midface retrusion
• Turricephaly

Frequently present symptoms in 30-79% of the cases:

• Anteverted nares
• Hypertelorism
• Mask-like facies
• Telecanthus
• Thin vermilion border
• Toenail dysplasia
• Visual impairment

Other signs and symptoms vary, but may include:

• Poor muscle tone (hypotonia)
• Ataxia
• Behavioral abnormalities
• Intellectual disability
• Developmental delay
• Craniofacial abnormalities
• Seizures
• 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)
• Agenesis of cerebellar vermis
• Alopecia
• Bipolar affective disorder
• Fusion of the cerebellar hemispheres
• Growth hormone deficiency
• High palate
• Hyperactivity
• Hyperreflexia
• Hypertonia
• Malar flattening
• Muscular hypotonia
• Opacification of the corneal stroma
• Posteriorly rotated ears
• Seizures
• Self-injurious behavior
• Short nose
• Skull asymmetry
• Smooth philtrum
• Sporadic
• Strabismus
• Wide anterior fontanel
• Wormian bones

(Source: Gomez Lopez Hernandez Syndrome; Genetic and Rare Diseases Information Center (GARD) of National Center for Advancing Translational Sciences (NCATS), USA.)

How is Gomez Lopez Hernandez Syndrome Diagnosed?

Gomez Lopez Hernandez Syndrome is diagnosed on the basis of the following information:

• Complete physical examination
• Thorough medical history evaluation
• Assessment of signs and symptoms
• Laboratory tests
• Imaging studies
• Biopsy studies, if necessary

Many clinical conditions may have similar signs and symptoms. Your healthcare provider may perform additional tests to rule out other clinical conditions to arrive at a definitive diagnosis.

What are the possible Complications of Gomez Lopez Hernandez Syndrome?

The complications of Gomez Lopez Hernandez Syndrome may include:

• Difficulties with movement
• Blindness
• Fall injuries, if seizures are present
• Behavioral abnormalities
• Low self-esteem due to physical appearance
• Severe decreased quality of life

Complications may occur with or without treatment, and in some cases, due to treatment also.

How is Gomez Lopez Hernandez Syndrome Treated?

There is no cure for Gomez Lopez Hernandez Syndrome, since it is a genetic condition. The treatment is usually given to manage the signs and symptoms and any complication that develops.

How can Gomez Lopez Hernandez Syndrome be Prevented?

Currently, Gomez Lopez Hernandez Syndrome may not be preventable, since it is a genetic disorder.

• If there is a family history of the condition, then genetic counseling will help assess risks, before planning for a child
• Active research is currently being performed to explore the possibilities for treatment and prevention of inherited and acquired genetic disorders

Regular medical screening at periodic intervals with tests and physical examinations are recommended.

What is the Prognosis of Gomez Lopez Hernandez Syndrome? (Outcomes/Resolutions)

• The prognosis of Gomez Lopez Hernandez Syndrome is dependent upon the severity of the signs and symptoms and associated complications, if any
• Individuals with mild conditions have better prognosis than those with severe symptoms and complications
• Typically, the prognosis may be assessed on a case-by-case basis

Additional and Relevant Useful Information for Gomez Lopez Hernandez Syndrome:

The following DoveMed website link is a useful resource for additional information:

http://www.dovemed.com/diseases-conditions/rare-disorders/