Gomez Lopez Hernandez syndrome
Alternate names[edit | edit source]
Cerebellotrigeminal-dermal dysplasia; Cerebellotrigeminal dermal dysplasia; Gomez-Lopez-Hernández syndrome; Cerebellotrigeminal-dermal dysplasia syndrome; Craniosynostosis-alopecia-brain defect syndrome
Definition[edit | edit source]
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[edit | edit source]
- 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[edit | edit source]
Three cases have been associated with consanguinity (when parents are related), suggesting the possibility of autosomal recessive inheritance.
Signs and symptoms[edit | edit source]
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[edit | edit source]
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[edit | edit source]
- 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[edit | edit source]
Treatment depends on the signs and symptoms present in each person.
NIH genetic and rare disease info[edit source]
Gomez Lopez Hernandez syndrome is a rare disease.
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