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Living with Cloverleaf skull-multiple congenital anomalies syndrome

A rare syndrome with a cloverleaf-shaped skull, limb differences, and facial and other birth differences.

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Understanding Cloverleaf skull-multiple congenital anomalies syndrome

Cloverleaf skull-multiple congenital anomalies syndrome is a rare syndrome with a cloverleaf skull, limb differences, facial differences, and other birth differences.

GARD lists onset during pregnancy and at birth. Other listed features include small eyes, a missing corpus callosum in the brain, and rib and bone differences.

Signs & symptoms

Symptoms vary from person to person. GARD lists these among the most common:

  • Cloverleaf-shaped skull
  • Limb differences
  • Collarbone and rib differences
  • Small eyes (microphthalmia)
  • Missing corpus callosum
  • Thumbs placed close to the wrist

Not everyone has every symptom. GARD's list comes from the Human Phenotype Ontology.

Diagnosis

  1. Talk with your doctor

    Share the symptoms you've noticed, when they started and your family health history. Notes and photos can help.

  2. See a specialist

    Specialists who may be involved include bone and joint specialists, eye disease specialists and genetic specialists.

  3. Ask which tests can help

    Your care team will decide which exams and tests can confirm the diagnosis.

  4. Connect with expert centers

    World Craniofacial Foundation may keep lists of experts for this condition.

Care & treatment

Care team
Bone and joint specialists (orthopedists or orthopedic surgeons); Eye disease specialists (ophthalmologists); Genetic specialists (geneticists)
Expert care
Expert lists: World Craniofacial Foundation
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 World Craniofacial Foundation and other patient organizations
  • 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
Bring these questions to your next doctor visit
Which tests can look for the cause?
Should the brain be checked with imaging?
Which specialists should plan care?

Quick facts

Symptoms usually startduring Pregnancy and as a Newborn
InheritanceAutosomal Recessive

GARD lists this condition as autosomal recessive, so a child inherits a changed copy of the gene from each parent. It doesn't name a gene.

Genetic

Also known as: cloverleaf skull with multiple congenital anomalies syndrome; multiple congenital anomalies syndrome with cloverleaf skull

Patient organizations

Source: NIH GARD · Cloverleaf skull-multiple congenital anomalies syndromeGARD ID 16811 · GARD page updated September 2026 · Plain-language summary by Know Rare; editorial review pending. General information, not medical advice.

You are more than your diagnosis

Perspectives from people navigating life with Cloverleaf skull-multiple congenital anomalies syndrome.

Explore the Cloverleaf skull-multiple congenital anomalies syndrome blog
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Explore research for Cloverleaf skull-multiple congenital anomalies syndrome

Explore actively recruiting Cloverleaf skull-multiple congenital anomalies syndrome studies with HealthSpark.

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