Conditions / Syndrome
IMAGe syndrome
info · Syndrome
A syndrome that is characterized by intrauterine growth restriction, metaphyseal dysplasia, adrenal hypoplasia congenita, genital abnormalities and has_material_basis_in heterozygous mutation in the CDKN1C gene.
Signs and symptoms
- Short nose
- Prominent forehead
- Osteopenia
- Adrenal hypoplasia
- Intrauterine growth retardation
- Delayed skeletal maturation
- Hypercalciuria
- Metaphyseal dysplasia
- Micropenis
- Hypercalcemia
Also known as: intrauterine growth restriction, metaphyseal dysplasia, adrenal hypoplasia congenita, genital abnormalities