This handout is designed to fit on a single printed page. It is intended for informational purposes only and is not a substitute for medical advice, diagnosis, or treatment. Always consult your care team with specific questions.
SETD5 Syndrome is a rare genetic neurodevelopmental condition caused by a change (variant) in the SETD5 gene on chromosome 3. Research suggests that SETD5 may help regulate how other genes are switched on and off during development. When one copy does not function correctly, a range of developmental, behavioral, medical, and physical features have been observed in affected individuals. No two individuals are exactly alike. The condition affects each person differently, and severity varies widely.
- Intellectual disability (range varies by individual)
- Delays across multiple areas of development (global developmental delay)
- Working memory difficulties
- Strengths in some areas with significant challenges in others
- Challenges with reading, writing, numeracy
- Speech and language delay (commonly reported)
- Difficulties expressing language (speaking, signing, or writing) commonly reported; some individuals understand more than they can express. A speech-language pathologist can help assess this.
- Some minimally verbal or nonverbal
- Fluency challenges (such as stuttering or halting speech); difficulty with clear articulation
- Some individuals use AAC (augmentative and alternative communication) as a communication support
- ADHD features (inattention, hyperactivity)
- Anxiety; difficulty with transitions
- Behavioral rigidity; preference for routine
- Autism spectrum features
- Repetitive movements or behaviors
- Sensory sensitivities
- Social communication challenges
- Difficulty with awareness of danger
- Low muscle tone (hypotonia)
- Gross and fine motor delays
- Coordination difficulties
- Epilepsy or seizures (reported in some individuals)
- Sleep disturbances
- Feeding difficulties in infancy
- Growth concerns; short stature
- Eye or vision concerns
- Hearing impairment
- Heart concerns present from birth (reported in some individuals)
- Bone, joint, or muscle concerns
Published case series suggest most reported cases have been de novo (a new mutation, not inherited from either parent). In some families, a parent carries the same variant and may pass it on. Some families pursue parental genetic testing after a SETD5 Syndrome diagnosis; your genetics team can advise whether this is appropriate for your situation. Recurrence risk depends on whether a parent carries the variant. A genetic counselor can help clarify recurrence risk and testing options for your family.
Website: setd5syndrome.live : family guides, handout builders, research summaries
SETD5 Syndrome Facebook Group : community support
Simons Searchlight : simonssearchlight.org — a research registry families can join to support SETD5 Syndrome research
NORD : rarediseases.org
Unique : rarechromo.org
OMIM : omim.org (entry #615355)