Living with Grant syndrome
A very rare bone condition like osteogenesis imperfecta, described in two patients, with blue whites of the eyes and a small jaw.
Understanding Grant syndrome
Features include persistent extra small bones in the skull (wormian bones), blue sclera (whites of the eyes), a small lower jaw, a shallow shoulder socket, and bowing of the limbs (campomelia). GARD says there have been no further descriptions in the literature since 1986. It is noticed in the newborn period.
Signs & symptoms
Symptoms vary. GARD lists these among the most common:
- Extra small bones in the skull (wormian bones)
- Bowing of the long bones
- Slowed skull bone formation
- Very flexible joints
- Flat nasal bridge
- Rib and pelvis differences
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, eye disease 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); Eye disease specialists (ophthalmologists); 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
Changes in genes cause this condition, and it is inherited in an autosomal dominant way, which means one changed copy of a gene can be enough. GARD does not name the gene.
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 Grant syndrome.
Explore research for Grant syndrome
Explore actively recruiting Grant syndrome studies with HealthSpark.
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- Recruiting studies from ClinicalTrials.gov
- Share your city to look for research near you
- Eligibility is confirmed by the study team
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Powered by HealthSpark, our AI chat helper · Study information from ClinicalTrials.gov · Eligibility is confirmed by the study team.
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