Meier-Gorlin syndrome
Findings
No curated finding names Meier-Gorlin syndrome yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
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).
Definition from the Mondo Disease Ontology (MONDO:0016817), read 2026-09-29. CC BY 4.0.
Features
49 features
What the disease is reported to present with, and how often among people who have it — never how often a feature means the disease. HPO, annotations 2026-09-02.
- Abnormal epiphysis morphologyHPOHP:0005930
- Very frequent (80% to 99% of cases)
- Abnormality of the outer earHPOHP:0000356
- Very frequent (80% to 99% of cases)
- AnotiaHPOHP:0009892
- Very frequent (80% to 99% of cases)
- Atresia of the external auditory canalHPOHP:0000413
- Very frequent (80% to 99% of cases)
- Clinodactyly of the 5th fingerHPOHP:0004209
- Very frequent (80% to 99% of cases)
- CryptorchidismHPOHP:0000028
- Very frequent (80% to 99% of cases)
Show the remaining 37
- Mandibular aplasiaHPOHP:0009939
- Very frequent (80% to 99% of cases)
- MicrocephalyHPOHP:0000252
- Very frequent (80% to 99% of cases)
- MicrognathiaHPOHP:0000347
- Very frequent (80% to 99% of cases)
- Microtia, third degreeHPOHP:0011267
- Very frequent (80% to 99% of cases)
- Narrow mouthHPOHP:0000160
- Very frequent (80% to 99% of cases)
- RetrognathiaHPOHP:0000278
- Very frequent (80% to 99% of cases)
Genes
9 genes
Germline variants in the gene encoding each protein, as classified by GenCC submitters, each in their own words. Limited, disputed and refuted submissions are listed too.
- GINS3HGNC:25851
- Strong · PanelApp Australia · Autosomal recessive · 2025
- Limited · Ambry Genetics · Autosomal recessive · 2024
- CDC45HGNC:1739
- Supportive · Orphanet · Autosomal dominant · 2021
- CDC6HGNC:1744
- Supportive · Orphanet · Autosomal dominant · 2021
- CDT1HGNC:24576
- Supportive · Orphanet · Autosomal dominant · 2021
- GMNNHGNC:17493
- Supportive · Orphanet · Autosomal dominant · 2021
Where it sits
Other names
1 name
Resolves to: Meier-Gorlin syndrome
- Also called
- ear-patella-short stature syndrome