Phenotypes associated with the disease Spondyloepimetaphyseal dysplasia congenita, Strudwick type (ORPHA:93346):
- Flared metaphysis (HP:0003015): The presence of a splayed (i.e.,flared) metaphyseal segment of one or more long bones. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:93346)
- Aplasia/hypoplasia involving bones of the extremities (HP:0045060). Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:93346)
- Glossoptosis (HP:0000162): Posterior displacement of the tongue into the pharynx, i.e., a tongue that is mislocalised posteriorly. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:93346)
- Coarse facial features (HP:0000280): Absence of fine and sharp appearance of brows, nose, lips, mouth, and chin, usually because of rounded and heavy features or thickened skin with or without thickening of subcutaneous and bony tissues. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:93346)
- Hypertelorism (HP:0000316): Interpupillary distance more than 2 SD above the mean (alternatively, the appearance of an increased interpupillary distance or widely spaced eyes). Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:93346)
- Micrognathia (HP:0000347): Developmental hypoplasia of the mandible. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:93346)
- Hearing impairment (HP:0000365): A decreased magnitude of the sensory perception of sound. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:93346)
- Myopia (HP:0000545): An abnormality of refraction characterized by the ability to see objects nearby clearly, while objects in the distance appear blurry. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:93346)
- Short long bone (HP:0003026): One or more abnormally short long bone. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:93346)
- 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: TAS. Frequency: Frequent (HP:0040282). (ORPHA:93346)
- Abnormal vertebral morphology (HP:0003468): An abnormality of one or more of the vertebrae. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:93346)
- Cervical instability (HP:0008462). Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:93346)
- Small epiphyses (HP:0010585): Reduction in the size or volume of epiphyses. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:93346)
- Flat face (HP:0012368): Absence of concavity or convexity of the face when viewed in profile. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:93346)
- Abnormally ossified vertebrae (HP:0100569): An abnormality of the formation and mineralization of one or more vertebrae. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:93346)
- Carious teeth (HP:0000670): Caries is a multifactorial bacterial infection affecting the structure of the tooth. This term has been used to describe the presence of more than expected dental caries. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:93346)
- Platyspondyly (HP:0000926): A flattened vertebral body shape with reduced distance between the vertebral endplates. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:93346)
- Delayed ossification of carpal bones (HP:0001216): Ossification of carpal bones occurs later than age-adjusted norms. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:93346)
- Spinal cord compression (HP:0002176): External mechanical compression of the spinal cord. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:93346)
- Abnormal respiratory system physiology (HP:0002795): Abnormal function of the respiratory system. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:93346)
- Restricted large joint movement (HP:0005193). Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:93346)
- Laryngotracheomalacia (HP:0008755). Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:93346)
- Limited hip movement (HP:0008800): A decreased ability to move the femur at the hip joint associated with a decreased range of motion of the hip. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:93346)
- Maternal diabetes (HP:0009800): Maternal diabetes can either be a gestational, mostly type 2 diabetes, or a type 1 diabetes. Essential is the resulting maternal hyperglycemia as a non-specific teratogen, imposing the same risk of congenital malformations to pregnant women with both type 1 and type2 diabetes. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:93346)