Phenotypes associated with the disease spondyloepiphyseal dysplasia, nishimura type (OMIM:618618):
- Delayed epiphyseal ossification (HP:0002663). Evidence: PCS. Frequency: 3/3. (PMID:30804514)
- Short foot (HP:0001773): A measured foot length that is more than 2 SD below the mean for a newborn of 27 - 41 weeks gestation, or foot that is less than the 3rd centile for individuals from birth to 16 years of age (objective). Alternatively, a foot that appears disproportionately short (subjective). Evidence: PCS. Frequency: 3/3. (PMID:30804514)
- Hearing impairment (HP:0000365): A decreased magnitude of the sensory perception of sound. Evidence: PCS. Frequency: 0/3. (PMID:30804514)
- Delayed proximal femoral epiphyseal ossification (HP:0008828): Developmental delay of ossification of the proximal epiphysis of the femur. Evidence: PCS. Frequency: 1/1. (PMID:30804514)
- 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: PCS. Frequency: 3/3. (PMID:30804514)
- Short nose (HP:0003196): Distance from nasion to subnasale more than two standard deviations below the mean, or alternatively, an apparently decreased length from the nasal root to the nasal tip. Evidence: PCS. Frequency: 3/3. (PMID:30804514)
- Short femoral neck (HP:0100864): An abnormally short femoral neck (which is the process of bone, connecting the femoral head with the femoral shaft). Evidence: PCS. Frequency: 2/2. (PMID:30804514)
- 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: PCS. Frequency: 3/3. (PMID:30804514)
- Disproportionate short-limb short stature (HP:0008873): A type of disproportionate short stature characterized by a short limbs but an average-sized trunk. Evidence: PCS. Frequency: 3/3. (PMID:30804514)
- Reduced visual acuity (HP:0007663). Evidence: PCS. Frequency: 0/3. (PMID:30804514)
- Laryngeal stenosis (HP:0001602): Stricture or narrowing of the larynx that may be associated with symptoms of respiratory difficulty depending on the degree of laryngeal narrowing. Evidence: PCS. Frequency: 1/3. (PMID:30804514)
- Cone-shaped epiphysis of the proximal phalanx of the 2nd finger (HP:0009526). Evidence: PCS. Frequency: 2/2. (PMID:30804514)
- Phalangeal cone-shaped epiphyses (HP:0034281): Cone-shaped epiphyses of the phalanges of the hands or feet. Cone-shaped epiphyses (also known as coned epiphyses) are epiphyses that invaginate into cupped metaphyses. That is, the epiphysis has a cone-shaped distal extension resulting from increased growth of the central portion of the epiphysis relative to its periphery. Evidence: PCS. Frequency: 1/1. (PMID:30804514)
- Intellectual disability (HP:0001249): The term intellectual disability or intellectual developmental disorder is used to describe significantly sub-average intellectual and adaptive functioning based on clinical assessment and as measured by individually administered, appropriately normed, standardized and validated tests of intellectual functioning and adaptive behavior, with onset during the developmental period from infancy through adolescence. Evidence: IEA. Frequency: 0/3. (PMID:30804514)
- Irregular vertebral endplates (HP:0003301): An irregular surface of the vertebral end plates, which are normally relatively smooth. Evidence: PCS. Frequency: 1/1. (PMID:30804514)
- Intervertebral disk degeneration (HP:0008419): The presence of degenerative changes of intervertebral disk. Evidence: PCS. Frequency: 2/2. (PMID:30804514)
- Inspiratory stridor (HP:0005348): Inspiratory stridor is a high pitched sound upon inspiration that is generally related to laryngeal abnormalities. Evidence: PCS. Frequency: 2/3. (PMID:30804514)
- Elevated circulating parathyroid hormone level (HP:0003165): An abnormal increased concentration of parathyroid hormone. Evidence: PCS. Frequency: 0/3. (PMID:30804514)
- Midface retrusion (HP:0011800): Posterior positions and/or vertical shortening of the infraorbital and perialar regions, or increased concavity of the face and/or reduced nasolabial angle. Evidence: PCS. Frequency: 3/3. (PMID:30804514)
- Knee osteoarthritis (HP:0005086). Evidence: PCS. Frequency: 1/1. (PMID:30804514)
- Broad thumb (HP:0011304): Increased thumb width without increased dorso-ventral dimension. Evidence: PCS. Frequency: 2/2. (PMID:30804514)
- Cervical spondylosis (HP:0008480): Arthrosis, i.e., of degenerative joint disease, affecting the cervical vertebral column. Evidence: PCS. Frequency: 2/2. (PMID:30804514)
- Hypoplastic ilia (HP:0000946): Underdevelopment of the ilium. Evidence: PCS. Frequency: 1/1. (PMID:30804514)
- Abnormal dental morphology (HP:0006482): An abnormality of the morphology of the tooth. Evidence: PCS. Frequency: 0/3. (PMID:30804514)
- Small proximal tibial epiphyses (HP:0012284): Reduced size of the proximal epiphysis of the tibia. Evidence: PCS. Frequency: 1/1. (PMID:30804514)
- Hyperphosphatemia (HP:0002905): The concentration of phosphate ion in the blood circulation is above the upper limit of normal. Evidence: PCS. Frequency: 0/3. (PMID:30804514)
- Visual impairment (HP:0000505): Visual impairment (or vision impairment) is vision loss (of a person) to such a degree as to qualify as an additional support need through a significant limitation of visual capability resulting from either disease, trauma, or congenital or degenerative conditions that cannot be corrected by conventional means, such as refractive correction, medication, or surgery. Evidence: PCS. Frequency: 0/3. (PMID:30804514)
- Hypocalcemia (HP:0002901): The concentration of calcium in the blood circulation is below the lower limit of normal. Evidence: PCS. Frequency: 0/3. (PMID:30804514)
- Small hand (HP:0200055): Disproportionately small hand. Evidence: PCS. Frequency: 3/3. (PMID:30804514)
- Recurrent respiratory infections (HP:0002205): An increased susceptibility to respiratory infections as manifested by a history of recurrent respiratory infections. Evidence: PCS. Frequency: 2/3. (PMID:30804514)
- 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:30804514)