Meier-Gorlin syndrome
MONDO:0016817Ear-patella-short stature syndrome is an association of malformations including bilateral microtia (severe hypoplasia of ear pinnae), absent patellae, short stature, poor weight gain, and characteristic facial features such as high forehead, micrognathism with full lips and small mouth, and accentuated nasolabial folds (smile wrinkles linking the nostrils to the labial commissure).
Also known as: Meier-Gorlin syndrome, ear-patella-short stature syndrome
5 clinical trials for this condition and its sub-types.
Follow this condition — get notified about new trialsSub-types
Broader categories
-
Scientists map DNA 'Signatures' in rare fetal diseases
Knowledge-focused Recruiting nowThis study looks at DNA methylation patterns (chemical tags on DNA) in fetuses with rare genetic diseases. Researchers will analyze DNA from amniotic fluid and tissue samples to create reference signatures. The goal is to improve diagnosis of these conditions before birth. The st…
Sponsor: Assistance Publique - Hôpitaux de Paris • Aim: Knowledge-focused
Last updated Jun 27, 2026 12:01 UTC
-
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
-
Gene tests for sick newborns: a lifesaver in the NICU?
Knowledge-focused Recruiting nowThis study is testing whether using rapid genetic sequencing can help doctors diagnose and treat birth defects in newborns in intensive care. Researchers will enroll 2,000 babies and compare death rates, disability rates, and genetic findings. The goal is to see if personalized t…
Sponsor: Children's Hospital of Fudan University • Aim: Knowledge-focused
Last updated Jun 26, 2026 13:36 UTC