Phenotypes associated with the disease otospondylomegaepiphyseal dysplasia, autosomal recessive (OMIM:215150):
- Enlarged joints (HP:0003037): Increase in size of one or more joints. Evidence: IEA. (OMIM:215150)
- Flared metaphysis (HP:0003015): The presence of a splayed (i.e.,flared) metaphyseal segment of one or more long bones. Evidence: IEA. (OMIM:215150)
- Congenital onset (HP:0003577): A phenotypic abnormality that is present at birth. Evidence: PCS. Frequency: 3/3. (PMID:7859284)
- Anteverted nares (HP:0000463): Anteriorly-facing nostrils viewed with the head in the Frankfurt horizontal and the eyes of the observer level with the eyes of the subject. This gives the appearance of an upturned nose (upturned nasal tip). Evidence: PCS. Frequency: 3/3. (PMID:7859284)
- 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: 3/3. (PMID:7859284)
- Flexion contracture (HP:0001371): A flexion contracture is a bent (flexed) joint that cannot be straightened actively or passively. It is thus a chronic loss of joint motion due to structural changes in muscle, tendons, ligaments, or skin that prevents normal movement of joints. Evidence: IEA. (OMIM:215150)
- Short 5th metacarpal (HP:0010047): Short fifth metacarpal bone. Evidence: PCS. Frequency: 3/3. (PMID:7859284)
- Lumbar hyperlordosis (HP:0002938): An abnormal accentuation of the inward curvature of the spine in the lumbar region. Evidence: PCS. Frequency: 3/3. (PMID:7859284)
- Bulbous nose (HP:0000414): Increased volume and globular shape of the anteroinferior aspect of the nose. Evidence: TAS. (OMIM:215150)
- Recurrent pneumonia (HP:0006532): An increased susceptibility to pneumonia as manifested by a history of recurrent episodes of pneumonia. Evidence: IEA. (OMIM:215150)
- Epiphyseal dysplasia (HP:0002656). Evidence: IEA. (OMIM:215150)
- Mixed hearing impairment (HP:0000410): A type of hearing loss resulting from a combination of conductive hearing impairment and sensorineural hearing impairment. Evidence: IEA. (OMIM:215150)
- Prominent interphalangeal joints (HP:0006237). Evidence: IEA. (OMIM:215150)
- Large tarsal bones (HP:0004679). Evidence: IEA. (OMIM:215150)
- Short phalanx of finger (HP:0009803): Short (hypoplastic) phalanx of finger, affecting one or more phalanges. Evidence: IEA. (OMIM:215150)
- Prominent supraorbital ridges (HP:0000336): Greater than average forward and/or lateral protrusion of the supraorbital portion of the frontal bones. Evidence: PCS. Frequency: 3/3. (PMID:7859284)
- Short long bone (HP:0003026): One or more abnormally short long bone. Evidence: IEA. (OMIM:215150)
- Cleft palate (HP:0000175): Cleft palate is a developmental defect of the palate resulting from a failure of fusion of the palatine processes and manifesting as a separation of the roof of the mouth (soft and hard palate). Evidence: PCS. Frequency: 0/3. (PMID:7859284)
- Short palm (HP:0004279): Short palm. Evidence: IEA. (OMIM:215150)
- Aplasia/Hypoplasia of the capital femoral epiphysis (HP:0005003): Absence or underdevelopment of the proximal epiphysis of the femur. Evidence: IEA. (OMIM:215150)
- Premature osteoarthritis (HP:0003088). Evidence: PCS. Frequency: 3/3. (PMID:7859284)
- Malar flattening (HP:0000272): Underdevelopment of the malar prominence of the jugal bone (zygomatic bone in mammals), appreciated in profile, frontal view, and/or by palpation. Evidence: IEA. (OMIM:215150)
- Midface retrusion (HP:0011800): Posterior positions and/or vertical shortening of the infraorbital and perialar regions, or increased concavity of the face and/or reduced nasolabial angle. Evidence: PCS. Frequency: 3/3. (PMID:7859284)
- Depressed nasal bridge (HP:0005280): Posterior positioning of the nasal root in relation to the overall facial profile for age. Evidence: PCS. Frequency: 3/3. (PMID:7859284)
- Arthralgia (HP:0002829): Joint pain. Evidence: TAS. (OMIM:215150)
- Sensorineural hearing impairment (HP:0000407): A type of hearing impairment in one or both ears related to an abnormal functionality of the cochlear nerve. Evidence: PCS. Frequency: 3/3. (PMID:7859284)
- Platyspondyly (HP:0000926): A flattened vertebral body shape with reduced distance between the vertebral endplates. Evidence: TAS. Onset: Childhood onset (HP:0011463). (OMIM:215150)
- 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:7859284)
- Coronal cleft vertebrae (HP:0003417): Frontal schisis (cleft or cleavage) of vertebral bodies. Evidence: TAS. Onset: Childhood onset (HP:0011463). (OMIM:215150)
- Pierre-Robin sequence (HP:0000201): Pierre Robin malformation is a sequence of developmental malformations characterized by micrognathia (mandibular hypoplasia), glossoptosis and cleft palate. Evidence: TAS. (OMIM:215150)
- Proptosis (HP:0000520): An eye that is protruding anterior to the plane of the face to a greater extent than is typical. Evidence: PCS. Frequency: 3/3. (PMID:7859284)
- Micrognathia (HP:0000347): Developmental hypoplasia of the mandible. Evidence: IEA. (OMIM:215150)
- Beaking of vertebral bodies (HP:0004568): Anterior tongue-like protrusions of the vertebral bodies. Evidence: TAS. (OMIM:215150)