Phenotypes associated with the disease distal symphalangism (OMIM:185700):
- Craniosynostosis (HP:0001363): Craniosynostosis refers to the premature closure of the cranial sutures. Primary craniosynostosis refers to the closure of one or more sutures due to abnormalities in skull development, and secondary craniosynostosis results from failure of brain growth. Evidence: IEA. (OMIM:185700)
- Small nail (HP:0001792): A nail that is diminished in length and width, i.e., underdeveloped nail. Evidence: IEA. (OMIM:185700)
- Brachydactyly (HP:0001156): Digits that appear disproportionately short compared to the hand/foot. The word brachydactyly is used here to describe a series distinct patterns of shortened digits (brachydactyly types A-E). This is the sense used here. Evidence: IEA. (OMIM:185700)
- Distal toe symphalangism (HP:0001859): Bony fusion at the distal interphalangeal joint of the second, third, fourth, or fifth toe. Evidence: IEA. (OMIM:185700)
- Variable expressivity (HP:0003828): A variable severity of phenotypic features. Evidence: IEA. (OMIM:185700)
- Absent dorsal skin creases over affected joints (HP:0001049). Evidence: IEA. (OMIM:185700)
- 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:185700)
- Distal finger symphalangism (HP:0001204): The term distal symphalangism refers to a bony fusion of the distal and middle phalanges of the digits of the hand, in other words the distal interphalangeal joint (DIJ) is missing which can be seen either on x-rays or as an absence of the distal interphalangeal finger creases. Evidence: IEA. (OMIM:185700)
- Anonychia (HP:0001798): Aplasia of the nail. Evidence: IEA. (OMIM:185700)