Phenotypes associated with the disease spondyloepimetaphyseal dysplasia, Strudwick type (OMIM:184250):
- Severe short stature (HP:0003510): A severe degree of short stature, more than -4 SD from the mean corrected for age and sex. Evidence: IEA. (OMIM:184250)
- Club-shaped proximal femur (HP:0006406): An abnormal conformation of the femur that becomes gradually enlarged towards the proximal end. This feature affects the proximal femoral metaphysis and epiphysis. Evidence: IEA. (OMIM:184250)
- 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: 1/2. (PMID:7550321)
- Hypoplasia of the odontoid process (HP:0003311): Developmental hypoplasia of the dens of the axis. Evidence: PCS. Frequency: 1/2. (PMID:7550321)
- Inguinal hernia (HP:0000023): Protrusion of the contents of the abdominal cavity through the inguinal canal. Evidence: IEA. (OMIM:184250)
- Narrow greater sciatic notch (HP:0003375): A narrowing of the sacrosciatic notch, i.e., the deep indentation in the posterior border of the hip bone at the point of union of the ilium and ischium. Evidence: IEA. (OMIM:184250)
- Hypoplastic pubic bone (HP:0003173): Underdevelopment of the pubis, which together with the ilium and the ischium, is one of the three bones that make up the hip bone. Evidence: IEA. (OMIM:184250)
- Metaphyseal dappling (HP:0011860): The presence of spots or rounded patches of abnormally increased density of metaphyseal bone. Evidence: TAS. (OMIM:184250)
- 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: 2/2. (PMID:7550321)
- Coxa vara (HP:0002812): Coxa vara includes all forms of decrease of the femoral neck shaft angle (the angle between the neck and the shaft of the femur) to less than 120 degrees. Evidence: PCS. Frequency: 1/2. (PMID:7550321)
- Hyperlordosis (HP:0003307): Abnormally increased curvature (anterior concavity) of the lumbar or cervical spine. Evidence: IEA. (OMIM:184250)
- Clinodactyly (HP:0030084): An angulation of a digit at an interphalangeal joint in the plane of the palm (finger) or sole (toe). Evidence: PCS. Frequency: 1/2. (PMID:7550321)
- Genu valgum (HP:0002857): The legs angle inward, such that the knees are close together and the ankles far apart. Evidence: IEA. (OMIM:184250)
- Pes planus (HP:0001763): A foot where the longitudinal arch of the foot is in contact with the ground or floor when the individual is standing; or, in a patient lying supine, a foot where the arch is in contact with the surface of a flat board pressed against the sole of the foot by the examiner with a pressure similar to that expected from weight bearing; or, the height of the arch is reduced. Evidence: IEA. (OMIM:184250)
- 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: PCS. Frequency: 0/2. (PMID:7550321)
- Cleft palate (HP:0000175): Cleft palate is a developmental defect of the palate resulting from a failure of fusion of the palatine processes and manifesting as a separation of the roof of the mouth (soft and hard palate). Evidence: IEA. (OMIM:184250)
- Scoliosis (HP:0002650): The presence of an abnormal lateral curvature of the spine. Evidence: IEA. (OMIM:184250)
- Metaphyseal irregularity (HP:0003025): Irregularity of the normally smooth surface of the metaphyses. Evidence: TAS. (OMIM:184250)
- Spondyloepimetaphyseal dysplasia (HP:0002651). Evidence: IEA. (OMIM:184250)
- C1-C2 subluxation (HP:0003320): A partial dislocation of the atlantoaxial joints. Evidence: IEA. (OMIM:184250)
- Anterior rib cupping (HP:0000907): Wide, concave anterior rib end. Evidence: TAS. (OMIM:184250)
- Platyspondyly (HP:0000926): A flattened vertebral body shape with reduced distance between the vertebral endplates. Evidence: IEA. (OMIM:184250)
- Pectus carinatum (HP:0000768): A deformity of the chest caused by overgrowth of the ribs and characterized by protrusion of the sternum. Evidence: PCS. Frequency: 2/2. (PMID:7550321)
- Protuberant abdomen (HP:0001538): A thrusting or bulging out of the abdomen. Evidence: IEA. (OMIM:184250)
- Delayed pubic bone ossification (HP:0008788): Delayed maturation and calcification of the pubic bone. Evidence: IEA. (OMIM:184250)
- 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:7550321)
- Myopia (HP:0000545): An abnormality of refraction characterized by the ability to see objects nearby clearly, while objects in the distance appear blurry. Evidence: IEA. (OMIM:184250)