Phenotypes associated with the disease multiple epiphyseal dysplasia, Beighton type (OMIM:132450):
- Coxa valga (HP:0002673): Coxa valga is a deformity of the hip in which the angle between the femoral shaft and the femoral neck is increased compared to age-adjusted values (about 150 degrees in newborns gradually reducing to 120-130 degrees in adults). Evidence: TAS. (OMIM:132450)
- 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. (PMID:9800905)
- Narrow mouth (HP:0000160): Distance between the commissures of the mouth more than 2 SD below the mean. Alternatively, an apparently decreased width of the oral aperture (subjective). Evidence: PCS. (PMID:9800905)
- Asteroid hyalosis (HP:0030672): The presence of small, white vitreous opacities consisting of calcium phosphate and complex, layered lipid deposits. Evidence: PCS. (PMID:9800905)
- Flat face (HP:0012368): Absence of concavity or convexity of the face when viewed in profile. Evidence: PCS. (PMID:9800905)
- Retinal thinning on OCT (HP:0030329): Reduced anteroposterior thickness of the retina. This phenotype can be appreciated by retinal optical coherence tomography (OCT). Evidence: TAS. (OMIM:132450)
- Cataract (HP:0000518): A cataract is an opacity or clouding that develops in the crystalline lens of the eye or in its capsule. Evidence: PCS. (PMID:9800905)
- Conductive hearing impairment (HP:0000405): An abnormality of vibrational conductance of sound to the inner ear leading to impairment of sensory perception of sound. Evidence: PCS. (PMID:9800905)
- Genu valgum (HP:0002857): The legs angle inward, such that the knees are close together and the ankles far apart. Evidence: TAS. (OMIM:132450)
- Epiphyseal dysplasia (HP:0002656). Evidence: PCS. (PMID:9800905)
- Round face (HP:0000311): The facial appearance is more circular than usual as viewed from the front. Evidence: PCS. (PMID:9800905)
- 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:9800905)
- Myopia (HP:0000545): An abnormality of refraction characterized by the ability to see objects nearby clearly, while objects in the distance appear blurry. Evidence: PCS. (PMID:9800905)
- Short phalanx of finger (HP:0009803): Short (hypoplastic) phalanx of finger, affecting one or more phalanges. Evidence: PCS. (PMID:9800905)