Living with Gomez Lopez Hernandez syndrome
A rare condition with patchy hair loss on the scalp, numb facial skin, and an unusual brain structure, noticed at birth.
Understanding Gomez Lopez Hernandez syndrome
People have partial baldness of the scalp, numbness of the face, eyes, sinuses, and mouth (trigeminal anesthesia), and rhombencephalosynapsis, a joined-up cerebellum. Other symptoms vary and may include distinct facial features, intellectual disability, other neurological problems, and craniofacial differences. It is noticed in the newborn period.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Patchy hair loss on the scalp
- Facial numbness
- Differences in the cerebellum and brainstem
- Poor balance and coordination (ataxia)
- Cognitive impairment
- Clouding of the cornea
Not everyone has every symptom. GARD's list comes from the Human Phenotype Ontology.
Diagnosis
- 1Talk with your doctor
Share the symptoms you've noticed, when they started and your family health history. Notes and photos can help.
- 2See a specialist
Specialists who may be involved include brain and nervous system specialists.
- 3Ask which tests can help
Your care team will decide which exams and tests can confirm the diagnosis.
Care & treatment
- Care team
- Brain and nervous system specialists (neurologists)
- Expert care
- Ask about multidisciplinary care centers for rare conditions
- Treatment
- GARD doesn't list specific treatments for this condition. Your care team will tailor care to your symptoms.
- Research
- Clinical trials and observational studies may be options. See the research section below.
General information, not medical advice. Your care team makes the decisions.
Everyday life
Living with a rare condition is easier with support.
- Connect with rare disease patient organizations for support
- Keep notes on symptoms, changes and questions for appointments
- Ask about patient registries that help research
- Look into financial aid and travel resources for care visits
Quick facts
GARD says the cause is poorly understood. It may be genetic, possibly with autosomal recessive inheritance.
Also known as: cerebellotrigeminal dermal dysplasia syndrome; cerebellotrigeminal-dermal dysplasia syndrome; craniosynostosis-alopecia-brain defect syndrome; glhs; gomez-lopez-hernandez syndrome; gómez-lópez-hernández syndrome
Patient organizations
Rare-disease groups that can help
- Global GenesRare Diseases · United States
- National Organization for Rare DisordersRare Diseases · United States
- Genetic AllianceRare Diseases · United States
- RARE FoundationRare Diseases · United States
You are more than your diagnosis
Perspectives from people navigating life with Gomez Lopez Hernandez syndrome.
Explore research for Gomez Lopez Hernandez syndrome
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- Recruiting studies from ClinicalTrials.gov
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- Eligibility is confirmed by the study team
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