Phenotypes associated with the disease craniosynostosis, Adelaide type (OMIM:600593):
- 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:600593)
- Carpal bone malsegmentation (HP:0005776). Evidence: TAS. (OMIM:600593)
- Cone-shaped epiphyses of the toes (HP:0010164). Evidence: TAS. (OMIM:600593)
- Cone-shaped epiphyses of the phalanges of the hand (HP:0010230): A cone-shaped appearance of the epiphyses of the fingers of the hand, producing a 'ball-in-a-socket' appearance. The related entity 'angel-shaped' epiphysis refers to a pronounced cone-shaped epiphysis in combination with a pseudoepiphysis at the distal end of a phalanx. Evidence: TAS. (OMIM:600593)
- Shortening of all middle phalanges of the fingers (HP:0006110): Short, hypoplastic middle phalanx of finger, affecting all fingers. Evidence: TAS. (OMIM:600593)
- Hallux valgus (HP:0001822): Lateral deviation of the great toe (i.e., in the direction of the little toe). Evidence: IEA. (OMIM:600593)
- 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: TAS. (OMIM:600593)
- Shortening of all distal phalanges of the fingers (HP:0006118): Hypoplasia of all of the distal phalanx of finger. Evidence: IEA. (OMIM:600593)