IMAGe syndrome
MONDO:0013873IMAGe 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.
Also known as: IMAGe syndrome, intrauterine growth retardation-metaphyseal dysplasia-adrenal hypoplasia congenita-genital anomalies syndrome, intrauterine growth retardation - metaphyseal dysplasia - adrenal hypoplasia congenita - genital anomalies, intrauterine growth retardation, metaphyseal dysplasia, adrenal hypoplasia congenita, and genital anomalies
5 clinical trials for this condition and its sub-types.
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2000 volunteers needed to test Next-Gen MRI scans
Knowledge-focused Recruiting nowThis study aims to test new MRI sequences in 2000 adults (patients and healthy volunteers) to see if they can produce better images than current methods. Participants will undergo additional scans during their regular MRI. The goal is to improve diagnostic capabilities without di…
Phase 4 • Sponsor: Northwestern University • Aim: Knowledge-focused
Last updated Jun 27, 2026 12:23 UTC
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New registry aims to unlock secrets of rare dwarfism disorders
Knowledge-focused Recruiting nowThis study creates a registry to collect health information from 200 people with rare forms of primordial dwarfism, such as MOPDII and Meier-Gorlin syndrome. Researchers hope to learn how these conditions change over a person's lifetime and improve future care. Participants provi…
Sponsor: Nemours Children's Clinic • Aim: Knowledge-focused
Last updated Jun 27, 2026 07:52 UTC