Phenotypes associated with the disease antecubital pterygium syndrome (OMIM:178200):
- Limited elbow extension (HP:0001377): Limited ability to straighten the arm at the elbow joint. Evidence: IEA. (OMIM:178200)
- Antecubital pterygium (HP:0009760): Pterygium affecting the elbow. This is a cutaneous web that can lead to severe flexion contracture of the elbow joint. Antecubital pterygium can be unilateral, bilateral, symmetric, or asysmmetric. Evidence: TAS. (OMIM:178200)
- Maldevelopment of radioulnar joint (HP:0005829). Evidence: IEA. (OMIM:178200)
- Posterior subluxation of radial head (HP:0005739): Partial dislocation of the head of the radius in the posterior direction. Evidence: IEA. (OMIM:178200)
- Autosomal dominant inheritance (HP:0000006): A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in heterozygotes. In the context of medical genetics, an autosomal dominant disorder is caused when a single copy of the mutant allele is present. Males and females are affected equally, and can both transmit the disorder with a risk of 50% for each child of inheriting the mutant allele. Evidence: IEA. (OMIM:178200)