Phenotypes associated with the disease Acropectorovertebral dysplasia (OMIM:102510):
- Skeletal dysplasia (HP:0002652): A general term describing features characterized by abnormal development of bones and connective tissues. Evidence: IEA. (OMIM:102510)
- Toe syndactyly (HP:0001770): Webbing or fusion of the toes, involving soft parts only or including bone structure. Bony fusions are referred to as "bony" Syndactyly if the fusion occurs in a radio-ulnar axis. Fusions of bones of the toes in a proximo-distal axis are referred to as "Symphalangism". Evidence: IEA. (OMIM:102510)
- Synostosis of carpal bones (HP:0005048). Evidence: IEA. (OMIM:102510)
- Capitate-hamate fusion (HP:0001241). Evidence: IEA. (OMIM:102510)
- Broad thumb (HP:0011304): Increased thumb width without increased dorso-ventral dimension. Evidence: TAS. (OMIM:102510)
- Radial deviation of the 2nd finger (HP:0009467): Displacement of the 2nd finger towards the radial side. Evidence: TAS. (OMIM:102510)
- Finger syndactyly (HP:0006101): Webbing or fusion of the fingers, involving soft parts only or including bone structure. Bony fusions are referred to as "bony" Syndactyly if the fusion occurs in a radio-ulnar axis. Fusions of bones of the fingers in a proximo-distal axis are referred to as "Symphalangism". Evidence: IEA. (OMIM:102510)
- Bifid distal phalanx of the thumb (HP:0009611): Partial duplication of the distal phalanx of the thumb. Depending on the severity, the appearance on x-ray can vary from a notched phalanx (the duplicated bone is almost completely fused with the phalanx) to a partially fused appearance of the two bones. Evidence: IEA. (OMIM:102510)
- Short thumb (HP:0009778): Hypoplasia (congenital reduction in size) of the thumb. Evidence: TAS. (OMIM:102510)
- Spina bifida occulta at S1 (HP:0004614): The closed form of spina bifida with incomplete closure of S1 with intact overlying skin. Evidence: TAS. (OMIM:102510)
- 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:102510)
- Abnormal thorax morphology (HP:0000765): Any abnormality of the thorax (the region of the body formed by the sternum, the thoracic vertebrae and the ribs). Evidence: IEA. (OMIM:102510)
- Abnormal vertebral morphology (HP:0003468): An abnormality of one or more of the vertebrae. Evidence: IEA. (OMIM:102510)
- Spina bifida occulta at L5 (HP:0004601): The closed form of spina bifida with incomplete closure of the vertebra L5 with intact overlying skin. Evidence: TAS. (OMIM:102510)