Phenotypes associated with the disease multiple epiphyseal dysplasia type 4 (OMIM:226900):
- Hip dysplasia (HP:0001385): The presence of developmental dysplasia of the hip. Evidence: IEA. (OMIM:226900)
- Scoliosis (HP:0002650): The presence of an abnormal lateral curvature of the spine. Evidence: IEA. (OMIM:226900)
- Talipes equinovarus (HP:0001762): Talipes equinovarus (also called clubfoot) typically has four main components: inversion and adduction of the forefoot; inversion of the heel and hindfoot; equinus (limitation of extension) of the ankle and subtalar joint; and internal rotation of the leg. Evidence: IEA. (OMIM:226900)
- 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: IEA. (OMIM:226900)
- 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: IEA. (OMIM:226900)
- Flat capital femoral epiphysis (HP:0003370): An abnormal flattening of the proximal epiphysis of the femur. Evidence: IEA. (OMIM:226900)
- Short metacarpal (HP:0010049): Diminished length of one or more metacarpal bones in relation to the others of the same hand or to the contralateral metacarpal. Evidence: IEA. (OMIM:226900)
- Arthralgia (HP:0002829): Joint pain. Evidence: IEA. (OMIM:226900)
- Double-layered patella (HP:0031174): An anomaly of the patella characterized by two layers visible on lateral knee X-ray such that one layer is in front of the other in the sagittal orientation (See Figure 2A and 3B of PMID:12966518). This finding persists into adulthood. Evidence: PCS. Frequency: 7/10. (PMID:12525546)
- 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: IEA. (OMIM:226900)
- Limited elbow flexion (HP:0006376). Evidence: IEA. (OMIM:226900)
- Epiphyseal dysplasia (HP:0002656). Evidence: IEA. (OMIM:226900)
- Hypoplasia of the femoral head (HP:0008802): Underdevelopment of the femoral head. Evidence: IEA. (OMIM:226900)
- Multiple epiphyseal dysplasia (HP:0002654). Evidence: IEA. (OMIM:226900)