Phenotypes associated with the disease arthrogryposis, distal, type 2B2 (OMIM:618435, an entry in Online Mendelian Inheritance in Man):
- Ulnar deviation of the wrist (HP:0003049, a Human Phenotype Ontology term). Evidence: IEA. (OMIM:618435)
- Congenital onset (HP:0003577, a Human Phenotype Ontology term): A phenotypic abnormality that is present at birth. Evidence: PCS. Frequency: 1/1. (PMID:19142688)
- Talipes equinovarus (HP:0001762, a Human Phenotype Ontology term): Talipes equinovarus (also called clubfoot) typically has four main components: inversion and adduction of the forefoot; inversion of the heel and hindfoot; equinus (limitation of extension) of the ankle and subtalar joint; and internal rotation of the leg. Evidence: PCS. Frequency: 1/1. Onset: Congenital onset (HP:0003577, a Human Phenotype Ontology term). (PMID:19142688)
- Brachydactyly (HP:0001156, a Human Phenotype Ontology term): 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:618435)
- Talipes equinovalgus (HP:0001772, a Human Phenotype Ontology term): A deformity of foot and ankle in which the foot is bent down and outwards. Evidence: IEA. (OMIM:618435)
- Narrow mouth (HP:0000160, a Human Phenotype Ontology term): Distance between the commissures of the mouth more than 2 SD below the mean. Alternatively, an apparently decreased width of the oral aperture (subjective). Evidence: IEA. Frequency: Very rare (HP:0040284, a Human Phenotype Ontology term). (OMIM:618435)
- Tapered finger (HP:0001182, a Human Phenotype Ontology term): The gradual reduction in girth of the finger from proximal to distal. Evidence: IEA. (OMIM:618435)
- Adducted thumb (HP:0001181, a Human Phenotype Ontology term): In the resting position, the tip of the thumb is on, or near, the palm, close to the base of the fourth or fifth finger. Evidence: IEA. (OMIM:618435)
- Overlapping fingers (HP:0010557, a Human Phenotype Ontology term): A finger resting on the dorsal surface of an adjacent digit when the hand is at rest. Evidence: IEA. (OMIM:618435)
- Camptodactyly (HP:0012385, a Human Phenotype Ontology term): The distal interphalangeal joint and/or the proximal interphalangeal joint of the fingers or toes cannot be extended to 180 degrees by either active or passive extension. Evidence: IEA. (OMIM:618435)
- Broad hallux (HP:0010055, a Human Phenotype Ontology term): Visible increase in width of the hallux without an increase in the dorso-ventral dimension. Evidence: IEA. (OMIM:618435)
- Hip dislocation (HP:0002827, a Human Phenotype Ontology term): Displacement of the femur from its normal location in the hip joint. Evidence: IEA. (OMIM:618435)
- Clinodactyly (HP:0030084, a Human Phenotype Ontology term): An angulation of a digit at an interphalangeal joint in the plane of the palm (finger) or sole (toe). Evidence: IEA. (OMIM:618435)
- Sandal gap (HP:0001852, a Human Phenotype Ontology term): A widely spaced gap between the first toe (the great toe) and the second toe. Evidence: IEA. (OMIM:618435)
- Metatarsus adductus (HP:0001840, a Human Phenotype Ontology term): The metatarsals are deviated medially (tibially), that is, the bones in the front half of the foot bend or turn in toward the body. Evidence: IEA. (OMIM:618435)
- Triangular face (HP:0000325, a Human Phenotype Ontology term): Facial contour, as viewed from the front, triangular in shape, with breadth at the temples and tapering to a narrow chin. Evidence: IEA. Frequency: Very rare (HP:0040284, a Human Phenotype Ontology term). (OMIM:618435)
- Autosomal dominant inheritance (HP:0000006, a Human Phenotype Ontology term): 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:12865991)
- Short toe (HP:0001831, a Human Phenotype Ontology term): A toe that appears disproportionately short compared to the foot. Evidence: IEA. (OMIM:618435)