Phenotypes associated with the disease tarsal-carpal coalition syndrome (OMIM:186570):
- Congenital onset (HP:0003577): A phenotypic abnormality that is present at birth. Evidence: PCS. (PMID:11545688)
- Abnormality of body height (HP:0000002): Deviation from the norm of height with respect to that which is expected according to age and gender norms. Evidence: PCS. Frequency: 0/20. (PMID:11545688)
- Hearing abnormality (HP:0000364): An abnormality of the sensory perception of sound. Evidence: PCS. Frequency: 1/20. (PMID:11545688)
- Brachydactyly (HP:0001156): 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: TAS. (OMIM:186570)
- Humeroradial synostosis (HP:0003041): An abnormal osseous union (fusion) between the radius and the humerus. Evidence: PCS. Frequency: Occasional (HP:0040283). Onset: Childhood onset (HP:0011463). (OMIM:186579;PMID:11545688)
- Short finger (HP:0009381): Abnormally short finger associated with developmental hypoplasia. Evidence: TAS. (OMIM:186570)
- Short 1st metacarpal (HP:0010034): A developmental defect characterized by reduced length of the first metacarpal (long bone) of the hand. Evidence: PCS. Frequency: Frequent (HP:0040282). (OMIM:186579;PMID:11545688)
- Proximal finger symphalangism (HP:0006152): The term proximal symphalangism refers to a bony fusion of the middle and proximal phalanges of the digits of the hand, in other words the proximal interphalangeal joint (PIJ) is missing which can be seen either on x-rays or as an absence of the proximal interphalangeal finger creases. Evidence: PCS. Frequency: Frequent (HP:0040282). (OMIM:186579;PMID:11545688)
- Radial deviation of finger (HP:0009466): Bending or curvature of a finger toward the radial side (i.e., towards the thumb). The deviation is at the metacarpal-phalangeal joint, and this finding is distinct from clinodactyly. Evidence: PCS. Frequency: Frequent (HP:0040282). (OMIM:186579;PMID:11545688)
- Cubitus valgus (HP:0002967): Abnormal positioning in which the elbows are turned out. Evidence: PCS. Frequency: Occasional (HP:0040283). (OMIM:186570)
- Tarsal synostosis (HP:0008368): Synostosis (bony fusion) involving one or more bones of the tarsus (calcaneus, talus, cuboid, navicular, cuneiiform bones). Evidence: PCS. Frequency: Frequent (HP:0040282). (OMIM:186579;PMID:11545688)
- Progressive fusion 2nd-5th proximal interphalangeal joints (HP:0006147). Evidence: TAS. (OMIM:186570)
- Clinodactyly (HP:0030084): An angulation of a digit at an interphalangeal joint in the plane of the palm (finger) or sole (toe). Evidence: TAS. (OMIM:186570)
- Carpal synostosis (HP:0009702): Synostosis (bony fusion) involving one or more bones of the carpus (scaphoid, lunate, triquetrum, trapezium, trapezoid, capitate, hamate, pisiform). Evidence: PCS. Frequency: Frequent (HP:0040282). (OMIM:186579;PMID:11545688)
- 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:11545688)
- Distal finger symphalangism (HP:0001204): The term distal symphalangism refers to a bony fusion of the distal and middle phalanges of the digits of the hand, in other words the distal interphalangeal joint (DIJ) is missing which can be seen either on x-rays or as an absence of the distal interphalangeal finger creases. Evidence: PCS. Frequency: Occasional (HP:0040283). (OMIM:186579;PMID:11545688)