Living with IMAGe syndrome
A rare syndrome with slow growth before birth, bone changes, underdeveloped adrenal glands, and genital differences in males.
Understanding IMAGe syndrome
IMAGe stands for intrauterine growth restriction, metaphyseal dysplasia, adrenal hypoplasia congenita, and genital anomalies. Most babies grow slowly before birth and are small in infancy. Underdeveloped adrenal glands are the most severe feature. Genital differences occur only in males.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Slow growth before birth and small size in infancy
- Bone changes at the ends of long bones
- Underdeveloped adrenal glands (adrenal insufficiency)
- Hypospadias, small penis, or undescended testes in males
- Low muscle tone (hypotonia)
- Flat nasal bridge and prominent forehead
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, genetic specialists, hormone specialists and urinary and male reproductive system specialists.
- 3Consider genetic testing
Changes in CDKN1C are linked to this condition. Genetic testing and counseling can help confirm a diagnosis and explain what it means for your family.
Care & treatment
- Care team
- Bone and joint specialists (orthopedists or orthopedic surgeons); Genetic specialists (geneticists); Hormone specialists (endocrinologists); Urinary and male reproductive system specialists (urologists)
- 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 the CDKN1C gene cause this condition. It can be inherited in an autosomal dominant or autosomal recessive pattern.
Also known as: intrauterine growth restriction, metaphyseal dysplasia, adrenal hypoplasia congenita, and genital anomalies; intrauterine growth restriction, metaphyseal dysplasia, adrenal hypoplasia congenita, and genital anomaly syndrome; intrauterine growth restriction, metaphyseal dysplasia, adrenal hypoplasia congenita, genital abnormalities; intrauterine growth retardation-metaphyseal dysplasia-adrenal hypoplasia congenita-genital anomalies syndrome; intrauterine growth retardation, metaphyseal dysplasia, adrenal hypoplasia congenita, and genital anomalies
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 IMAGe syndrome.
Explore research for IMAGe syndrome
Explore actively recruiting IMAGe syndrome studies with HealthSpark.
Find actively recruiting studies for IMAGe syndrome with HealthSpark. Share your city to explore research near you.
- 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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