Phenotypes associated with the disease epiphyseal dysplasia, multiple, 7 (OMIM:617719):
- 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: 1/1. (PMID:28742282)
- Genu varum (HP:0002970): A positional abnormality marked by outward bowing of the legs in which the knees stay wide apart when a person stands with the feet and ankles together. Evidence: PCS. Frequency: 2/2. (PMID:28742282)
- Advanced ossification of carpal bones (HP:0004233): Ossification of carpal bones at an abnormally early age. Evidence: PCS. Frequency: 1/1. (PMID:28742282)
- Platyspondyly (HP:0000926): A flattened vertebral body shape with reduced distance between the vertebral endplates. Evidence: PCS. Frequency: 2/2. (PMID:28742282)
- Vertebral wedging (HP:0008422): An abnormal shape of the vertebral bodies whereby the vertebral bodies are thick on one side and taper to a thin edge at the other. Evidence: PCS. Frequency: 2/2. (PMID:28742282)
- Autosomal recessive inheritance (HP:0000007): 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 individuals with two pathogenic alleles, either homozygotes (two copies of the same mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele). Evidence: PCS. (PMID:28742282)
- Monkey wrench femoral neck (HP:0033102): The femoral neck region shows medial metaphyseal beaking and a significant enlargement of the lesser trochanter (with some enlargement also of the greater trochanter), producing a monkey wrench (Swedish key) configuration of the proximal femur. A monkey wrench refers to a type of adjustable wrench with one fixed and one adjustable jaw at right angles to a straight handle. Evidence: PCS. Frequency: 2/2. (PMID:28742282)
- Epiphyseal dysplasia (HP:0002656). Evidence: PCS. Frequency: 2/2. (PMID:28742282)
- Flat acetabular roof (HP:0003180): Flattening of the superior part of the acetabulum, which is a cup-shaped cavity at the base of the hipbone into which the ball-shaped head of the femur fits. The acetabular roof thereby appears horizontal rather than arched, as it normally does. Evidence: PCS. Frequency: 2/2. (PMID:28742282)
- Mild short stature (HP:0003502): A mild degree of short stature, more than -2 SD but not more than -3 SD from mean corrected for age and sex. Evidence: PCS. Frequency: 2/2. (PMID:28742282)
- Hypoplasia of the capital femoral epiphysis (HP:0003090): Underdevelopment of the proximal epiphysis of the femur. Evidence: PCS. Frequency: 2/2. (PMID:28742282)