Search for a rare disease
Other search option(s)
IMAGe syndrome
Disease definition
A rare genetic disease characterized by intrauterine growth restriction, metaphyseal dysplasia, congenital adrenal hypoplasia, and genital anomalies (such as cryptorchidism, posterior hypospadias, and micropenis). Patients may present shortly after birth with severe adrenal insufficiency. Additional manifestations include postnatal growth failure and delayed bone age, mild developmental delay, macrocephaly, mild facial dysmorphism (with frontal bossing, wide nasal bridge, and small, low-set ears), epiphyseal dysplasia, and hypercalcemia/hypercalciuria, among others.
ORPHA:85173
Classification level: Disorder- Synonym(s):
- Intrauterine growth retardation-metaphyseal dysplasia-adrenal hypoplasia congenita-genital anomalies syndrome
- Prevalence: <1 / 1 000 000
- Inheritance: Autosomal dominant or Autosomal recessive
- Age of onset: Infancy, Neonatal
- ICD-10: Q87.1
- ICD-11: 5A74.Y
- OMIM: 614732
- UMLS: C1846009
- MeSH: -
- GARD: 12312
- MedDRA: -
A summary on this disease is available in Español (2020) Français (2020) Nederlands (2020) Deutsch (2007) Italiano (2007)
Detailed information
Disease review articles
- Clinical genetics review
- English (2021) - GeneReviews
: produced/endorsed by ERN(s)
: produced/endorsed by FSMR(s)Additional information
Further information on this disease
Patient-centred resources for this disease
Research activities on this disease
Specialised Social Services
The documents contained in this web site are presented for information purposes only. The material is in no way intended to replace professional medical care by a qualified specialist and should not be used as a basis for diagnosis or treatment.