Gomez Lopez Hernandez syndrome

Alternate names

Cerebellotrigeminal-dermal dysplasia; Cerebellotrigeminal dermal dysplasia; Gomez-Lopez-Hernández syndrome; Cerebellotrigeminal-dermal dysplasia syndrome; Craniosynostosis-alopecia-brain defect syndrome

Definition

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.

Cause

• 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.
• Further studies need to be performed to find the underlying cause of GLHS.

Inheritance

Three cases have been associated with consanguinity (when parents are related), suggesting the possibility of autosomal recessive inheritance.

Signs and symptoms

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)
• 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)

Clinical presentation

For most diseases, symptoms will vary from person to person. People with the same disease may not have all the symptoms listed. 80%-99% of people have these symptoms

• Abnormality of brainstem morphology(Abnormal shape of brainstem)
• Alopecia of scalp(Pathologic hair loss from scalp)
• Ataxia
• [[Brachycephaly](Short and broad skull)
• Cerebellar vermis hypoplasia
• Cognitive impairment(Abnormality of cognition)
• Corneal opacity
• Hydrocephalus(Too much cerebrospinal fluid in the brain)
• Impaired pain sensation(Decreased pain sensation)
• Intellectual disability, moderate(IQ between 34 and 49)
• Low-set ears(Low set ears)
• Midface retrusion(Decreased size of midface)
• Short stature(Decreased body height)
• Turricephaly(Tall shaped skull)

30%-79% of people have these symptoms

• Anteverted nares(Nasal tip, upturned)
• Hypertelorism(Wide-set eyes)
• Mask-like facies(Expressionless face)
• Telecanthus(Corners of eye widely separated)
• Thin vermilion border(Decreased volume of lip)
• Toenail dysplasia(Abnormal toenail development)
• Visual impairment(Impaired vision)

1%-4% of people have these symptoms

• Alopecia(Hair loss)
• Downslanted palpebral fissures(Downward slanting of the opening between the eyelids)
• Global developmental delay
• Malar flattening(Zygomatic flattening)
• Rhombencephalosynapsis
• Strabismus(Cross-eyed)
• Trigeminal anesthesia

Diagnosis

• To the extent known, this is the first case of GLHS reported from India.
• If a child presents with alopecia and rhom-bencephalosynapsis, GLHS should be considered in the differential diagnosis.
• A host of studies can be used to determine the exact pathogenesis, and confirming the diagnosis of GLHS is an important step in prenatal testing for at-risk pregnancies.

Treatment

Treatment depends on the signs and symptoms present in each person.

NIH genetic and rare disease info

• NIH info on Gomez Lopez Hernandez syndrome

Gomez Lopez Hernandez syndrome is a rare disease.

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