Living with Weiss-Kruszka syndrome
A genetic condition with a ridge on the forehead, drooping eyelids, developmental delay, and sometimes heart defects.
Understanding Weiss-Kruszka syndrome
The forehead ridge comes from early closing of a skull seam (metopic synostosis). Brain imaging may show differences in the corpus callosum. People may also have ear differences, feeding difficulties (sometimes needing a feeding tube), and heart defects. GARD says features vary a lot, even within one family.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Ridge on the forehead (metopic ridge)
- Drooping upper eyelid
- Developmental delay
- Delayed speech and language
- Autistic behavior
- Feeding difficulties
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, eye disease specialists and genetic specialists.
- 3Consider genetic testing
Changes in ZNF462 are linked to this condition. Genetic testing and counseling can help confirm a diagnosis and explain what it means for your family.
Care & treatment
- Care team
- Brain and nervous system specialists (neurologists); Eye disease specialists (ophthalmologists); Genetic specialists (geneticists)
- 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 Simons Searchlight
- 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
Weiss-Kruszka syndrome is caused by changes in the ZNF462 gene. A child can get it from one parent with the changed gene (autosomal dominant).
Also known as: metopic ridging-ptosis-facial dysmorphism syndrome; metopic ridging, ptosis, facial dysmorphism syndrome; wska; znf462 disorder
Patient organizations
- Simons SearchlightWeiss-Kruszka syndrome · United States
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