Living with Neurodevelopmental disorder with hypotonia, brain anomalies, distinctive facies, and absent language
A rare genetic condition with delayed development, little or no speech, low muscle tone, and a small head.
Understanding Neurodevelopmental disorder with hypotonia, brain anomalies, distinctive facies, and absent language
People have global developmental delay with absent or poor speech, intellectual disability that ranges from mild to profound, low muscle tone, and a small head. Other common features include brain differences, behavior changes, seizures, eye and bone differences, feeding difficulties, and distinct facial features. It can be seen during pregnancy or at birth.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Little or no speech
- Small head (microcephaly)
- Delayed walking
- Severe intellectual disability
- Acid reflux and constipation
- Crossed eyes (strabismus)
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 bone and joint specialists, brain and nervous system specialists and genetic specialists.
- 3Consider genetic testing
Changes in RNU4-2 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
- Bone and joint specialists (orthopedists or orthopedic surgeons); Brain and nervous system specialists (neurologists); 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 ReNU Syndrome United
- 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 lists changes in the RNU4-2 gene. The condition is autosomal dominant, which means one changed copy of the gene can be enough to cause it.
Also known as: nedhafa; renu; renu syndrome; rnu4-2-related neurodevelopmental disorder; rnu4-2-related neurodevelopmental disorder-facial dysmorphism-white matter abnormalities-short stature syndrome; rnu4-2-related neurodevelopmental syndrome
Patient organizations
- ReNU Syndrome UnitedNeurodevelopmental disorder with hypotonia, brain anomalies, distinctive facies, and absent language · United States
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