Meier-Gorlin syndrome

MONDO:0016817

Ear-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

1 clinical trial for this condition and its sub-types, 1 tagged with Meier-Gorlin syndrome itself.

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Where it sits in the disease tree

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↑ Syndromic disease (7133) ↑ Autosomal recessive disease (994) ↑ Multiple congenital anomalies/dysmorphic syndrome-variable intellectual disability syndrome (90)

Sub-types of Meier-Gorlin syndrome

Including sub-types (1) Tagged with Meier-Gorlin syndrome (1)

Trials to join now! 1

New registry aims to unlock secrets of rare dwarfism disorders

Knowledge-focused Recruiting now

This 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

Meier-Gorlin syndrome

Where it sits in the disease tree

New registry aims to unlock secrets of rare dwarfism disorders