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Health library/Smith-Lemli-Opitz syndrome

Rare metabolic disorders / RARE CONDITION

Smith-Lemli-Opitz syndrome

Also known as: 7-dehydrocholesterol reductase deficiency, RSH Syndrome, SLO syndrome, SLOS

Smith-Lemli-Opitz syndrome impairs cholesterol synthesis and affects development. Its severity ranges widely, with possible feeding, behavioral and congenital organ problems.

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What you may notice

Symptoms can overlap with other conditions and vary between people.

  • Poor growth
  • Low muscle tone
  • Developmental difficulties
  • Congenital limb or organ differences

Understanding care

Clinical care may include metabolic and genetic assessment with individualized nutritional and developmental care. A qualified clinician decides which investigations and options fit the individual situation.

When to seek help

Arrange specialist assessment for growth, feeding or developmental concerns. Breathing difficulty, loss of responsiveness or new seizures requires urgent care rather than a community review.

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.

Smith-Lemli-Opitz syndrome — First AID health library