Phenotypes associated with the disease metaphyseal dysplasia-maxillary hypoplasia-brachydacty syndrome (OMIM:156510, an entry in Online Mendelian Inheritance in Man):
- Flared metaphysis (HP:0003015, a Human Phenotype Ontology term): The presence of a splayed (i.e.,flared) metaphyseal segment of one or more long bones. Evidence: TAS. (OMIM:156510)
- Thin vermilion border (HP:0000233, a Human Phenotype Ontology term): Height of the vermilion of the medial part of the lip more than 2 SD below the mean, or apparently reduced height of the vermilion of the lip in the frontal view. The vermilion is the red part of the lips (and confusingly, the vermilion itself is also often referred to as being equivalent the lips). Evidence: IEA. (OMIM:156510)
- Short stature (HP:0004322, a Human Phenotype Ontology term): 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:156510)
- Short middle phalanx of the 5th finger (HP:0004220, a Human Phenotype Ontology term): Hypoplastic/small middle phalanx of the fifth finger. Evidence: TAS. (OMIM:156510)
- Short 5th metacarpal (HP:0010047, a Human Phenotype Ontology term): Short fifth metacarpal bone. Evidence: IEA. (OMIM:156510)
- Metaphyseal dysplasia (HP:0100255, a Human Phenotype Ontology term): The presence of dysplastic regions in metaphyseal regions. Evidence: IEA. (OMIM:156510)
- Premature loss of teeth (HP:0006480, a Human Phenotype Ontology term): Exfoliation of a tooth more than 2 SD earlier than the normal age for the deciduous teeth and not related to traume or neglect. Exfoliation of a permanent tooth is per se abnormal. Evidence: IEA. (OMIM:156510)
- Platyspondyly (HP:0000926, a Human Phenotype Ontology term): A flattened vertebral body shape with reduced distance between the vertebral endplates. Evidence: IEA. (OMIM:156510)
- Hypoplasia of the maxilla (HP:0000327, a Human Phenotype Ontology term): Abnormally small dimension of the Maxilla. Usually creating a malocclusion or malalignment between the upper and lower teeth or resulting in a deficient amount of projection of the base of the nose and lower midface region. Evidence: IEA. (OMIM:156510)
- Short middle phalanx of the 2nd finger (HP:0009577, a Human Phenotype Ontology term): Hypoplasia (congenital reduction in size) of the middle phalanx of the second finger, also known as the index finger. Evidence: TAS. (OMIM:156510)
- Convex nasal ridge (HP:0000444, a Human Phenotype Ontology term): Nasal ridge curving anteriorly to an imaginary line that connects the nasal root and tip. The nose appears often also prominent, and the columella low. Evidence: IEA. (OMIM:156510)
- Short philtrum (HP:0000322, a Human Phenotype Ontology term): Distance between nasal base and midline upper lip vermilion border more than 2 SD below the mean. Alternatively, an apparently decreased distance between nasal base and midline upper lip vermilion border. Evidence: IEA. (OMIM:156510)
- Autosomal dominant inheritance (HP:0000006, a Human Phenotype Ontology term): 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: IEA. (OMIM:156510)
- Osteoporosis of vertebrae (HP:0005625, a Human Phenotype Ontology term): Osteoporosis affecting predominantly the vertebrae. Evidence: IEA. (OMIM:156510)
- Multiple small vertebral fractures (HP:0005877, a Human Phenotype Ontology term). Evidence: TAS. (OMIM:156510)