- 3-4 finger cutaneous syndactyly (HP:0011939): A soft tissue continuity in the A/P axis between fingers 3 and 4. Evidence: PCS. (PMID:21167467)
- Congenital onset (HP:0003577): A phenotypic abnormality that is present at birth. Evidence: PCS. (PMID:21167467)
- Sagittal craniosynostosis (HP:0004442): A kind of craniosynostosis affecting the sagittal suture. Evidence: PCS. Frequency: Occasional (HP:0040283). (PMID:21167467)
- 2-3 toe syndactyly (HP:0004691): Syndactyly with fusion of toes two and three. Evidence: PCS. (PMID:21167467)
- 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: PCS. (PMID:21167467)
These phenotypes are associated with the disease syndactyly type 1 (OMIM:185900).