Gómez–López-Hernández syndrome

Editor-In-Chief: Prab R Tumpati, MD
Obesity, Sleep & Internal medicine
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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

Rhombencephalosynapsis MRI

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

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

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

Treatment for Gómez–López-Hernández syndrome is symptomatic and supportive. This can include physical therapy for ataxia and hypotonia, and surgery for craniosynostosis.

Prognosis

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

• List of neurological disorders
• List of rare diseases