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Health library/Coffin-Lowry syndrome

Rare developmental disorders / RARE CONDITION

Coffin-Lowry syndrome

Also known as: CLS, Mental retardation with osteocartilaginous abnormalities

Coffin-Lowry syndrome affects development and skeletal growth, often more markedly in males. Some individuals have brief stimulus-triggered collapses as well as learning difficulties.

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What you may notice

Symptoms can overlap with other conditions and vary between people.

  • Developmental delay
  • Learning difficulties
  • Skeletal differences
  • Brief collapse episodes in some people

Understanding care

Clinical care may include genetic and developmental assessment with evaluation of collapse, spine and functional needs. A qualified clinician decides which investigations and options fit the individual situation.

When to seek help

Loss of skills or worsening movement needs prompt specialist review. New seizures, serious swallowing or breathing difficulty, or reduced consciousness requires urgent emergency care.

For severe breathing difficulty, collapse, suspected stroke, or another emergency, call local emergency services immediately. In India, call 112.

Read the medical sources

These sources support the educational article and offer more detail.

Educational reading · Updated 6 October 2026

Prepared from the linked sources. This summary has not had an independent clinician review. A qualified clinician can assess symptoms and explain which information applies to you.

A child and a caring grown-up reading a picture book together

LITTLE PEOPLE. BIG FEELINGS.

It’s okay to have
a lot of questions.

A doctor visit or an unfamiliar health word can feel scary. You can ask a trusted grown-up to help you understand, one small question at a time.

01

Say how you feel.

“I feel worried” is a good place to start.

02

Ask for simple words.

“Can you explain that in a way I understand?”

03

Bring someone you trust.

A caring adult can help you ask and listen.

For children and their grown-ups. This illustration explains a conversation, not a diagnosis. An adult should seek qualified care for a child who is unwell.

Coffin-Lowry syndrome — First AID health library