Gómez–López-Hernández syndrome
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| Gómez–López-Hernández syndrome | |
|---|---|
| Image showing alopecia in Gómez–López-Hernández syndrome | |
| Synonyms | Cerebellotrigeminal dermal dysplasia |
| Pronounce | |
| Specialty | Medical genetics |
| Symptoms | Alopecia, craniofacial dysmorphism, cerebellar abnormalities |
| Complications | N/A |
| Onset | Congenital |
| Duration | Lifelong |
| Types | N/A |
| Causes | Genetic mutation |
| Risks | |
| Diagnosis | Clinical diagnosis, MRI |
| Differential diagnosis | Crouzon syndrome, Goldenhar syndrome |
| Prevention | |
| Treatment | Symptomatic treatment |
| Medication | |
| Prognosis | Variable |
| Frequency | Rare |
| Deaths | |
Gómez–López-Hernández syndrome is a rare neurological disorder characterized by a triad of symptoms: rhombencephalosynapsis, craniosynostosis, and alopecia. It was first described by Gómez and López-Hernández in 1979.
Symptoms and Signs[edit]
The primary symptoms of Gómez–López-Hernández syndrome include:
- Rhombencephalosynapsis: This is a rare congenital malformation where the cerebellar hemispheres are not separated and appear to be fused. This can lead to a range of neurological symptoms, including ataxia, nystagmus, and hypotonia.
- Craniosynostosis: This is a condition where one or more of the fibrous sutures in an infant's skull prematurely fuses. This can lead to abnormal growth patterns of the skull and can affect the shape of the head and face.
- Alopecia: This is a condition characterized by hair loss. In the case of Gómez–López-Hernández syndrome, the hair loss is typically in a linear pattern.
Diagnosis[edit]
Diagnosis of Gómez–López-Hernández syndrome is typically based on the presence of the triad of symptoms. Magnetic resonance imaging (MRI) can be used to confirm the presence of rhombencephalosynapsis.
Treatment[edit]
Treatment for Gómez–López-Hernández syndrome is symptomatic and supportive. This can include physical therapy for ataxia and hypotonia, and surgery for craniosynostosis.
Prognosis[edit]
The prognosis for individuals with Gómez–López-Hernández syndrome varies. Some individuals may have mild symptoms and a normal lifespan, while others may have severe neurological symptoms and a shortened lifespan.
See Also[edit]
References[edit]
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