Living with Osteopathia striata with cranial sclerosis
An X-linked condition that makes bones unusually hard and thick, especially in the head and face, with features that vary widely.
Understanding Osteopathia striata with cranial sclerosis
Severity varies a lot, even in one family. Features are usually present at birth. They can include bone differences at the ends of long bones, hardening of head and face bones, a large head, and cleft palate. Some people also have developmental delay, hearing loss, heart defects, and breathing or feeding trouble. Diagnosis is based on symptoms and a clinical exam and may be confirmed by genetic testing.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Cleft palate
- Large head (macrocephaly)
- Thick, dense skull and facial bones
- Hearing loss from the middle ear (conductive)
- Prominent forehead
- Late eruption of teeth
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, brain and nervous system specialists and genetic specialists.
- 3Consider genetic testing
Changes in AMER1 are linked to this condition. Genetic testing and counseling can help confirm a diagnosis and explain what it means for your family.
- 4Connect with expert centers
Little People of America may keep lists of experts for this condition.
Care & treatment
- Care team
- Bone and joint specialists (orthopedists or orthopedic surgeons); Brain and nervous system specialists (neurologists); Genetic specialists (geneticists)
- Expert care
- Expert lists: Little People of America
- 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 Little People of America
- 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
Changes in the AMER1 gene cause this condition. It is inherited in an X-linked dominant way.
Also known as: hyperostosis generalisata with striations; oscs; osteopathia striata with cranial sclerosis, x-linked dominant; osteopathia striata-cranial sclerosis syndrome; robinow-unger syndrome
Patient organizations
- Little People of AmericaOsteopathia striata with cranial sclerosis · United States
You are more than your diagnosis
Perspectives from people navigating life with Osteopathia striata with cranial sclerosis.
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