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Catel Manzke syndrome
Summary
- Synonym
-
- Hyperphalangy-clinodactyly of index finger with Pierre Robin syndrome
- Micrognathia digital syndrome
- Definition
- A bone disease that is characterized by the Pierre Robin anomaly, which comprises cleft palate, glossoptosis, and micrognathia, and a unique form of bilateral hyperphalangy in which there is an accessory bone inserted between the second metacarpal and its corresponding proximal phalanx, resulting in radial deviation of the index finger and that has_material_basis_in homozygous or compound heterozygous mutation in the TGDS gene on chromosome 13q32.
- Super Class
- bone disease
External Links
- Disease Ontology
- DOID:0081122
- Mondo Disease Ontology
- MeSH
- ORDO
- OMIM
- GARD
Related Genes
- The Human Phenotype Ontology
| HPO ID | HPO Term |
|---|---|
| HP:0000347 | Micrognathia |
| HP:0001631 | Atrial septal defect |
| HP:0000162 | Glossoptosis |
| HP:0001387 | Joint stiffness |
| HP:0004322 | Short stature |
| HP:0000272 | Malar flattening |
| HP:0010508 | Metatarsus valgus |
| HP:0000368 | Low-set, posteriorly rotated ears |
| HP:0002119 | Ventriculomegaly |
| HP:0100490 | Camptodactyly of finger |
