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Meier-Gorlin syndrome
rareEar-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).
- Identifiers
- MONDO:0016817 Orphanet:2554
- Part of
- Autosomal recessive diseaseMultiple congenital anomalies/dysmorphic syndrome-variable intellectual disability syndromeSyndromic disease
- Also known as
- ear-patella-short stature syndrome
Subtypes
Rare disease
Projects
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