Phenotypes associated with the disease Schmid metaphyseal chondrodysplasia (OMIM:156500):
- Metaphyseal cupping of proximal phalanges (HP:0006208): Metaphyseal cupping affecting the proximal phalanges. Evidence: TAS. (OMIM:156500)
- Metaphyseal widening (HP:0003016): Abnormal widening of the metaphyseal regions of long bones. Evidence: PCS. Frequency: 1/1. (PMID:12554676)
- Femoral bowing (HP:0002980): Bowing (abnormal curvature) of the femur. Evidence: PCS. Frequency: 1/1. (PMID:12554676)
- Broad femoral neck (HP:0006429): An abnormally wide femoral neck (which is the process of bone, connecting the femoral head with the femoral shaft). Evidence: PCS. Frequency: 7/7. (PMID:16088909)
- Short stature (HP:0004322): A height below that which is expected according to age and gender norms. Although there is no universally accepted definition of short stature, many refer to "short stature" as height more than 2 standard deviations below the mean for age and gender (or below the 3rd percentile for age and gender dependent norms). Evidence: PCS. Frequency: 9/10. (PMID:16088909)
- Metaphyseal chondrodysplasia (HP:0005871): An abnormality of skeletal development characterized by a disturbance of the metaphysis and its histological structure with relatively normal epiphyses and vertebrae. Evidence: TAS. (OMIM:156500)
- Enlargement of the proximal femoral epiphysis (HP:0003371): An abnormal enlargement of the proximal epiphysis of the femur. Evidence: PCS. Frequency: 7/7. (PMID:16088909)
- Childhood onset (HP:0011463): Onset of disease at the age of between 1 and 5 years. Evidence: PCS. Frequency: 8/8. (PMID:12554676;PMID:16088909)
- Short distal phalanx of finger (HP:0009882): Short distance from the end of the finger to the most distal interphalangeal crease or the distal interphalangeal joint flexion point. That is, hypoplasia of one or more of the distal phalanx of finger. Evidence: TAS. (OMIM:156500)
- Lumbar hyperlordosis (HP:0002938): An abnormal accentuation of the inward curvature of the spine in the lumbar region. Evidence: PCS. Frequency: 3/8. (PMID:12554676;PMID:16088909)
- Abnormal proximal femoral metaphysis morphology (HP:0006431): An anomaly of the metaphysis of the proximal femur (close to the hip). Evidence: IEA. (OMIM:156500)
- Proportionate short stature (HP:0003508): A kind of short stature in which different regions of the body are shortened to a comparable extent. Evidence: PCS. Frequency: 1/1. (PMID:12554676)
- 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: 7/7. (PMID:16088909)
- Waddling gait (HP:0002515): Weakness of the hip girdle and upper thigh muscles, for instance in myopathies, leads to an instability of the pelvis on standing and walking. If the muscles extending the hip joint are affected, the posture in that joint becomes flexed and lumbar lordosis increases. The patients usually have difficulties standing up from a sitting position. Due to weakness in the gluteus medius muscle, the hip on the side of the swinging leg drops with each step (referred to as Trendelenburg sign). The gait appears waddling. The patients frequently attempt to counteract the dropping of the hip on the swinging side by bending the trunk towards the side which is in the stance phase (in the German language literature this is referred to as Duchenne sign). Similar gait patterns can be caused by orthopedic conditions when the origin and the insertion site of the gluteus medius muscle are closer to each other than normal, for instance due to a posttraumatic elevation of the trochanter or pseudarthrosis of the femoral neck. Evidence: PCS. Frequency: 1/1. (PMID:12554676)
- Metaphyseal sclerosis (HP:0004979): Abnormally increased density of metaphyseal bone. Evidence: PCS. Frequency: 1/1. (PMID:12554676)
- Genu valgum (HP:0002857): The legs angle inward, such that the knees are close together and the ankles far apart. Evidence: PCS. Frequency: 2/6. (PMID:16088909)
- Irregular acetabular roof (HP:0008833). Evidence: TAS. (OMIM:156500)
- Broad middle phalanx of finger (HP:0009844): Increased width of the middle phalanx of finger. Evidence: TAS. (OMIM:156500)
- Distal tibial bowing (HP:0006414): A bending or abnormal curvature of the distal portion of the tibia. Evidence: TAS. (OMIM:156500)
- 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: TAS. (OMIM:156500)
- Irregular vertebral endplates (HP:0003301): An irregular surface of the vertebral end plates, which are normally relatively smooth. Evidence: TAS. (OMIM:156500)
- Scoliosis (HP:0002650): The presence of an abnormal lateral curvature of the spine. Evidence: PCS. Frequency: 1/7. (PMID:16088909)
- 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: 5/7. (PMID:12554676;PMID:16088909)
- Metaphyseal irregularity (HP:0003025): Irregularity of the normally smooth surface of the metaphyses. Evidence: PCS. Frequency: 1/1. (PMID:12554676)
- Platyspondyly (HP:0000926): A flattened vertebral body shape with reduced distance between the vertebral endplates. Evidence: PCS. Frequency: 0/7. (PMID:16088909)
- Short middle phalanx of finger (HP:0005819): Short (hypoplastic) middle phalanx of finger, affecting one or more fingers. Evidence: TAS. (OMIM:156500)
- Metaphyseal cupping of metacarpals (HP:0006028): Metaphyseal cupping affecting the metacarpal bones. Evidence: TAS. (OMIM:156500)
- 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:8220429)