GTR Home > Conditions/Phenotypes > Intrauterine growth retardation, metaphyseal dysplasia, adrenal hypoplasia congenita, and genital anomalies

Summary

IMAGE syndrome is a rare multisystem disorder characterized by intrauterine growth restriction, metaphyseal dysplasia, congenital adrenal hypoplasia, and genital anomalies. Patients with this condition may present shortly after birth with severe adrenal insufficiency, which can be life-threatening if not recognized early and steroid replacement therapy commenced. Other reported features in this condition include hypercalciuria and/or hypocalcemia, craniosynostosis, cleft palate, and scoliosis (summary by Balasubramanian et al., 2010). [from OMIM]

Associated genes

Clinical features

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  • Hypercalcemia
  • Prominent forehead
  • Intrauterine growth retardation
  • Low-set, posteriorly rotated ears
  • Postnatal growth retardation
  • Macrocephaly
  • Cryptorchidism
  • Hypospadias
  • Micropenis
  • Low-set ears
  • Growth hormone deficiency
  • Abnormality of the adrenal glands
  • Adrenal hypoplasia
  • Muscular hypotonia
  • Global developmental delay
  • Frontal bossing
  • Hypercalciuria
  • Epiphyseal dysplasia
  • Delayed skeletal maturation
  • Micromelia
  • Short nose
  • Depressed nasal bridge
  • Abnormality of the upper urinary tract
  • Metaphyseal dysplasia
  • Displacement of the external urethral meatus
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