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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
Disease
- Meier-Gorlin syndrome 1 MONDO:0009143 ORC1
- Meier-Gorlin syndrome 10 MONDO:0981050 DONSON
- Meier-Gorlin syndrome 2 MONDO:0013428 ORC4
- Meier-Gorlin syndrome 3 MONDO:0013430 ORC6
- Meier-Gorlin syndrome 4 MONDO:0013431 CDT1
- Meier-Gorlin syndrome 5 MONDO:0013432 CDC6
- Meier-Gorlin syndrome 6 MONDO:0014794 GMNN
- Meier-Gorlin syndrome 7 MONDO:0014894 CDC45
- Meier-Gorlin syndrome 8 MONDO:0033046
- Meier-Gorlin syndrome 9 MONDO:0980992 GINS3
Projects
Including projects on subtypes.
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