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IMAGe syndrome
- This rare genetic disorder is marked by intrauterine growth restriction, metaphyseal dysplasia, congenital adrenal hypoplasia, and genital anomalies such as cryptorchidism, posterior hypospadias, and micropenis.
- Affected individuals often present in the neonatal period with signs of severe adrenal insufficiency.
- Other features include postnatal growth failure, delayed bone age, mild developmental delay, macrocephaly, and subtle facial dysmorphism—typically featuring frontal bossing, a broad nasal bridge, and small, low-set ears. Additional findings may include epiphyseal dysplasia, hypercalcemia, and hypercalciuria, among other variable manifestations.
Synonyms
- Intrauterine growth retardation-metaphyseal dysplasia-adrenal hypoplasia congenita-genital anomalies syndrome
Prevalence: <1 / 1 000 000
Inheritance: Autosomal dominant, Autosomal recessive
Age of onset: Infancy, Neonatal
What are the symptoms of IMAGe syndrome?
Very Frequent Symptoms
- Abnormality of the genital system
- Adrenal hypoplasia
- Cryptorchidism
- Depressed nasal bridge
- Frontal bossing
- Hydronephrosis
- Hypogonadism
- Hypospadias
- Hypotonia
- Intrauterine growth retardation
- Low-set ears
- Metaphyseal dysplasia
- Micromelia
