Phenotypes associated with the disease tibia, hypoplasia or aplasia of, with polydactyly (OMIM:188740):
- Triphalangeal thumb (HP:0001199): A thumb with three phalanges in a single, proximo-distal axis. Thus, this term applies if the thumb has an accessory phalanx, leading to a digit like appearance of the thumb. Evidence: PCS. Frequency: 11/13. (PMID:19847792)
- Congenital onset (HP:0003577): A phenotypic abnormality that is present at birth. Evidence: PCS. Frequency: 13/13. (PMID:19847792)
- Preaxial polydactyly (HP:0100258): A form of polydactyly in which the extra digit or digits are localized on the side of the thumb or great toe. Evidence: PCS. Frequency: 12/13. (PMID:19847792)
- Absent tibia (HP:0009556): Absence of the tibia. Evidence: PCS. (PMID:19847792)
- Short tibia (HP:0005736): Underdevelopment (reduced size) of the tibia. Evidence: PCS. (PMID:19847792)
- Fibular duplication (HP:0010503): Duplication of the fibula. This may occur as a part of diplopodia (accessory tarsal or metatarsal bone). Diplopodia with double fibula is an extremely rare condition. Evidence: PCS. Frequency: 1/13. (PMID:19847792)
- 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:19847792)