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IMAGe syndrome

ORPHA85173
Synonym(s) Intrauterine growth retardation - metaphyseal dysplasia - adrenal hypoplasia congenita - genital anomalies
Prevalence <1 / 1 000 000
Inheritance Autosomal dominant
or Autosomal recessive
Age of onset Infancy
Neonatal
ICD-10
  • Q87.1
OMIM
UMLS -
MeSH -
MedDRA -

Summary

IMAGe syndrome is characterized by the association of Intrauterine growth retardation, Metaphyseal dysplasia (and short limbs), Adrenal hypoplasia congenita, and Genital anomalies. It has been described in less than 20 cases. The patients also present with dysmorphic features (frontal bossing, broad nasal bridge, low-set ears). In boys, genital anomalies include bilateral cryptorchidism, hypospadias, micropenis, and hypogonadotropic hypogonadism. This syndrome is likely to be transmitted as an autosomal recessive trait.


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Detailed information

Clinical genetics review
  • EN (2014)
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