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
1 clinical trial for this condition and its sub-types.
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Broader categories
Disease
(680)
Hereditary disease
(176)
Syndromic disease
(25)
Human disease
(14)
Developmental defect during embryogenesis
(8)
Autosomal recessive disease
(4)
Disease of genetic or genomic mechanism
(2)
Multiple congenital anomalies/dysmorphic syndrome
(1)
Autosomal genetic disease
(0)
Disease by body system or component
(0)