IMAGe Syndrome
IMAGe Syndrome
Overview
IMAGe syndrome is a rare genetic condition characterized by Intrauterine growth restriction, Metaphyseal dysplasia, Adrenal hypoplasia congenita, and Genital abnormalities. The acronym "IMAGe" represents these cardinal features.
Pathophysiology
- Caused by mutations in the CDKN1C gene
- Autosomal dominant inheritance pattern
- Affects multiple organ systems during development
- Results in impaired fetal growth and adrenal insufficiency
- Associated with skeletal and reproductive system abnormalities
Clinical Manifestations
Intrauterine Growth Restriction
- Severe prenatal growth deficiency
- Low birth weight
- Small for gestational age
- Postnatal growth failure
Metaphyseal Dysplasia
- Irregular metaphyses
- Short stature
- Delayed bone age
- Skeletal abnormalities
- Characteristic radiographic findings
Adrenal Hypoplasia
- Primary adrenal insufficiency
- Salt-wasting crisis
- Hypoglycemia
- Failure to thrive
- Electrolyte imbalances
Genital Abnormalities
- Cryptorchidism
- Micropenis
- Hypospadias
- Ambiguous genitalia
Additional Features
- Characteristic facial features
- Feeding difficulties
- Developmental delays
- Recurrent infections
Diagnostic Approach
Laboratory Studies
- Cortisol levels (typically low)
- ACTH levels (elevated)
- Electrolyte panel
- Plasma renin activity
- Aldosterone levels
- 17-hydroxyprogesterone
Imaging Studies
- Skeletal survey
- Adrenal imaging (MRI/CT)
- Brain MRI
- Bone age studies
Genetic Testing
- CDKN1C gene sequencing
- Family genetic studies
- Prenatal testing options
Treatment Strategies
Endocrine Management
- Glucocorticoid replacement therapy
- Mineralocorticoid supplementation
- Stress dose steroids during illness
- Emergency protocols for adrenal crisis
Growth Management
- Growth hormone therapy consideration
- Regular growth monitoring
- Nutritional support
- Physical therapy
Multidisciplinary Care
- Endocrinology follow-up
- Orthopedic monitoring
- Developmental assessment
- Genetic counseling
- Psychological support
Genetic Aspects
Molecular Genetics
- CDKN1C gene mutations
- Location: chromosome 11p15.5
- Maternally inherited
- Role in cell cycle regulation
Inheritance Pattern
- Autosomal dominant transmission
- Maternal imprinting
- Variable expressivity
- Penetrance considerations
Genetic Counseling
- Recurrence risk assessment
- Family planning discussion
- Prenatal testing options
- Impact on future pregnancies
