Living with Delayed membranous cranial ossification
A rare genetic bone condition in which the skull is soft at birth and hardens slowly, with distinct facial features.
Understanding Delayed membranous cranial ossification
Babies have a soft skull that gradually hardens over time. In adulthood this typically results in a skull with a different shape. There are also distinct facial features. No other bone differences are linked to it, and people have normal thinking and motor development.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Soft skull at birth
- Prominent forehead (frontal bossing)
- Wide-set eyes
- Flat nasal bridge
- Flattened middle of the face
- Prominent back of the skull
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 and genetic specialists.
- 3Ask which tests can help
Your care team will decide which exams and tests can confirm the diagnosis.
Care & treatment
- Care team
- Bone and joint specialists (orthopedists or orthopedic surgeons); 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 rare disease patient organizations for support
- 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 says changes in genes cause this condition. It is autosomal dominant, so a changed copy of the gene from one parent can be enough.
Also known as: gonzales-del angel syndrome
Patient organizations
Rare-disease groups that can help
- Global GenesRare Diseases · United States
- National Organization for Rare DisordersRare Diseases · United States
- Genetic AllianceRare Diseases · United States
- RARE FoundationRare Diseases · United States
You are more than your diagnosis
Perspectives from people navigating life with Delayed membranous cranial ossification.
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