Phenotypes associated with the disease spondylometaphyseal dysplasia-cone-rod dystrophy syndrome (OMIM:608940):
- Flared metaphysis (HP:0003015): The presence of a splayed (i.e.,flared) metaphyseal segment of one or more long bones. Evidence: PCS. Frequency: 4/4. (PMID:24387991)
- Tibial bowing (HP:0002982): A bending or abnormal curvature of the tibia. Evidence: TAS. (OMIM:608940)
- Corneal opacity (HP:0007957): A reduction of corneal clarity. Evidence: PCS. Frequency: 1/4. (PMID:24387991)
- Lens subluxation (HP:0001132): Partial dislocation of the lens of the eye. Evidence: PCS. Frequency: 1/4. (PMID:24387991)
- Metaphyseal widening (HP:0003016): Abnormal widening of the metaphyseal regions of long bones. Evidence: PCS. (PMID:24387990)
- Femoral bowing (HP:0002980): Bowing (abnormal curvature) of the femur. Evidence: TAS. (OMIM:608940)
- Rhizomelia (HP:0008905): Disproportionate shortening of the proximal segment of limbs (i.e. the femur and humerus). Evidence: PCS. (PMID:24387991)
- Severe platyspondyly (HP:0004565). Evidence: TAS. Onset: Childhood onset (HP:0011463). (OMIM:608940)
- Strabismus (HP:0000486): A misalignment of the eyes so that the visual axes deviate from bifoveal fixation. The classification of strabismus may be based on a number of features including the relative position of the eyes, whether the deviation is latent or manifest, intermittent or constant, concomitant or otherwise and according to the age of onset and the relevance of any associated refractive error. Evidence: PCS. Frequency: 2/4. (PMID:24387991)
- 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: TAS. (OMIM:608940)
- 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: 10/10. (PMID:24387991;PMID:24387990)
- Ectopia pupillae (HP:0009918): A malposition of the pupil owing to a developmental defect of the iris. Evidence: PCS. Frequency: 2/4. (PMID:24387991)
- Narrow greater sciatic notch (HP:0003375): A narrowing of the sacrosciatic notch, i.e., the deep indentation in the posterior border of the hip bone at the point of union of the ilium and ischium. Evidence: TAS. (OMIM:608940)
- Infantile onset (HP:0003593): Onset of signs or symptoms of disease between 28 days to one year of life. Evidence: PCS. Frequency: 4/4. (PMID:24387991)
- 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: TAS. (OMIM:608940)
- Short finger (HP:0009381): Abnormally short finger associated with developmental hypoplasia. Evidence: TAS. (OMIM:608940)
- Nystagmus (HP:0000639): Rhythmic, involuntary oscillations of one or both eyes related to abnormality in fixation, conjugate gaze, or vestibular mechanisms. Evidence: PCS. Frequency: 2/4. (PMID:24387991)
- Bowing of the legs (HP:0002979): A bending or abnormal curvature affecting a long bone of the leg. Evidence: PCS. Frequency: 4/4. (PMID:24387991)
- Reduced visual acuity (HP:0007663). Evidence: PCS. Frequency: 8/10. (PMID:24387991;PMID:24387990)
- 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: TAS. (OMIM:608940)
- Postnatal growth retardation (HP:0008897): Slow or limited growth after birth. Evidence: TAS. (OMIM:608940)
- Macular atrophy (HP:0007401): A nonspecific term denoting wasting, especially as a result of degeneration, of the retinal pigment epithelium (RPE) and neurosensory retinal cells in the macula. Evidence: PCS. Frequency: 1/4. (PMID:24387991)
- Spondylometaphyseal dysplasia (HP:0002657). Evidence: PCS. Frequency: 4/4. (PMID:24387991)
- Retinal atrophy (HP:0001105): A nonspecific term denoting wasting, especially as a result of degeneration, of the retinal pigment epithelium (RPE) and neurosensory retinal cells. Evidence: PCS. Frequency: 2/4. (PMID:24387991)
- Short long bone (HP:0003026): One or more abnormally short long bone. Evidence: PCS. Frequency: 4/4. (PMID:24387991)
- Undetectable electroretinogram (HP:0000550): Lack of any response to stimulation upon electroretinography. Evidence: PCS. Frequency: 1/1. (PMID:24387991)
- Scoliosis (HP:0002650): The presence of an abnormal lateral curvature of the spine. Evidence: PCS. Frequency: 1/4. (PMID:24387991)
- Joint stiffness (HP:0001387): Joint stiffness is a perceived sensation of tightness in a joint or joints when attempting to move them after a period of inactivity. Joint stiffness typically subsides over time. Evidence: PCS. (PMID:24387990)
- Metaphyseal irregularity (HP:0003025): Irregularity of the normally smooth surface of the metaphyses. Evidence: PCS. Frequency: 8/8. (PMID:24387990)
- Ovoid vertebral bodies (HP:0003300): When viewed in lateral radiographs, vertebral bodies have a roughly rectangular configuration. This term applies if the vertebral body appears rounded or oval. Evidence: TAS. (OMIM:608940)
- Metaphyseal cupping (HP:0003021): Metaphyseal cupping refers to an inward bulging of the metaphyseal profile giving the metaphysis a cup-like appearance. Evidence: PCS. Frequency: 8/8. (PMID:24387990)
- Retinal thinning on OCT (HP:0030329): Reduced anteroposterior thickness of the retina. This phenotype can be appreciated by retinal optical coherence tomography (OCT). Evidence: PCS. Frequency: 1/1. (PMID:24387991)
- Progressive visual loss (HP:0000529): A reduction of previously attained ability to see. Evidence: TAS. (OMIM:608940)
- Increased hepatic echogenicity (HP:0031141): Increased echogenicity of liver tissue on sonography, manifested as an increased amount of white on the screen of the sonography device. Evidence: PCS. Frequency: 2/4. (PMID:24387991)
- Abnormal macular pigmentation (HP:0008002): Any deviation from the normal, uniform distribution or appearance of pigment within the macular region of the retina. Evidence: PCS. Frequency: 8/8. (PMID:24387990)
- Platyspondyly (HP:0000926): A flattened vertebral body shape with reduced distance between the vertebral endplates. Evidence: PCS. Frequency: 12/12. (PMID:24387991;PMID:24387990)
- Abnormal facial shape (HP:0001999): An abnormal morphology (form) of the face or its components. Evidence: PCS. Frequency: 0/4. (PMID:24387991)
- 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:24387990)
- Cupped ribs (HP:0000887): Wide, concave rib end. Evidence: TAS. (OMIM:608940)
- Dental malocclusion (HP:0000689): Dental malocclusion refers to an abnormality of the occlusion, or alignment, of the teeth and the way the upper and lower teeth fit together, resulting in overcrowding of teeth or in abnormal bite patterns. Evidence: TAS. (OMIM:608940)
- Microphthalmia (HP:0000568): A developmental anomaly characterized by abnormal smallness of one or both eyes. Evidence: PCS. Frequency: 2/4. (PMID:24387991)
- Recurrent otitis media (HP:0000403): Increased susceptibility to otitis media, as manifested by recurrent episodes of otitis media. Evidence: TAS. (OMIM:608940)
- Cone/cone-rod dystrophy (HP:0000548). Evidence: TAS. (OMIM:608940)
- Hypoplastic inferior ilia (HP:0008821). Evidence: TAS. (OMIM:608940)
- 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. Frequency: 2/4. (PMID:24387991)
- Optic disc coloboma (HP:0000588): A cleft of the optic nerve that extends inferiorly. Evidence: PCS. Frequency: 1/4. (PMID:24387991)