Meier-Gorlin syndrome
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).
MONDO:0002254
syndromic disease
is_a
MONDO:0006025
autosomal recessive disease
is_a
MONDO:0015160
multiple congenital anomalies/dysmorphic syndrome-variable intellectual disability syndrome
is_a
Meier-Gorlin syndrome
exact
ear-patella-short stature syndrome
exact
SPAC227.16c SPBC336.04 SPBC428.18 SPAC17D4.02 SPBP23A10.13 SPAC1B2.05 SPBC14C8.07c SPBC29A10.15 SPBC2A9.12