Phenotypes associated with the disease spondyloepimetaphyseal dysplasia with multiple dislocations (OMIM:603546):
- Flared metaphysis (HP:0003015): The presence of a splayed (i.e.,flared) metaphyseal segment of one or more long bones. Evidence: TAS. (OMIM:603546)
- Congenital hip dislocation (HP:0001374). Evidence: IEA. (OMIM:603546)
- Carpal bone hypoplasia (HP:0001498): Underdevelopment of one or more carpal bones. Evidence: IEA. (OMIM:603546)
- 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: 7/8. (PMID:22152677)
- Hypotonia (HP:0001252): Hypotonia is an abnormally low muscle tone (the amount of tension or resistance to movement in a muscle). Even when relaxed, muscles have a continuous and passive partial contraction which provides some resistance to passive stretching. Hypotonia thus manifests as diminished resistance to passive stretching. Hypotonia is not the same as muscle weakness, although the two conditions can co-exist. Evidence: IEA. (OMIM:603546)
- Flat capital femoral epiphysis (HP:0003370): An abnormal flattening of the proximal epiphysis of the femur. Evidence: TAS. (OMIM:603546)
- Generalized hypotonia (HP:0001290): Generalized muscular hypotonia (abnormally low muscle tone). Evidence: TAS. (OMIM:603546)
- Spinal dysraphism (HP:0010301): A heterogeneous group of congenital spinal anomalies that result from defective closure of the neural tube early in fetal life. Evidence: IEA. (OMIM:603546)
- Flattened epiphysis (HP:0003071): Abnormal flatness (decreased height) of epiphyses. Evidence: TAS. (OMIM:603546)
- Small epiphyses (HP:0010585): Reduction in the size or volume of epiphyses. Evidence: TAS. (OMIM:603546)
- Wind-swept deformity of the knees (HP:0100531): The appearance of abnormal valgus deformity in one knee in association with varus deformity in the other. Evidence: PCS. Frequency: 1/8. (PMID:22152677)
- Streaky metaphyseal sclerosis (HP:0005092): The presence of streaks (bands) of abnormally increased density of metaphyseal bone. Evidence: IEA. (OMIM:603546)
- Hypoplasia of the capital femoral epiphysis (HP:0003090): Underdevelopment of the proximal epiphysis of the femur. Evidence: TAS. (OMIM:603546)
- Slender proximal phalanx of finger (HP:0012297): Reduced diameter of the proximal phalanx of finger. Evidence: TAS. (OMIM:603546)
- Long distal phalanx of finger (HP:0012299): Increased length of the distal phalanx of finger. Evidence: TAS. (OMIM:603546)
- Slender distal phalanx of finger (HP:0012296): Reduced diameter of the distal phalanx of finger. Evidence: TAS. (OMIM:603546)
- Caudal interpedicular narrowing (HP:0008457): Narrowing (becoming gradually narrower) of the distance between vertebral pedicles that gets progressively more severe towards to caudal (lower) end of the vertebral column. Note that normally, the interpedicular distances get progressively wider as one proceeds down the spine. Evidence: IEA. (OMIM:603546)
- Delayed patellar ossification (HP:0006454): Formation of bone in the patella later than normal. Evidence: TAS. (OMIM:603546)
- Genu valgum (HP:0002857): The legs angle inward, such that the knees are close together and the ankles far apart. Evidence: PCS. Frequency: 4/8. (PMID:22152677)
- Soft skin (HP:0000977): Subjective impression of increased softness upon palpation of the skin. Evidence: TAS. (OMIM:603546)
- Delayed phalangeal epiphyseal ossification (HP:0006016): Delay in the process of formation and maturation of the epiphysis of one or more phalanx. Evidence: TAS. (OMIM:603546)
- Laryngotracheomalacia (HP:0008755). Evidence: PCS. Frequency: 5/8. (PMID:22152677)
- Large joint dislocations (HP:0005008). Evidence: TAS. (OMIM:603546)
- Irregular vertebral endplates (HP:0003301): An irregular surface of the vertebral end plates, which are normally relatively smooth. Evidence: TAS. (OMIM:603546)
- Radial head subluxation (HP:0003048): Partial dislocation of the head of the radius. Evidence: PCS. Frequency: 6/8. (PMID:22152677)
- Scoliosis (HP:0002650): The presence of an abnormal lateral curvature of the spine. Evidence: PCS. Frequency: 13/18. (OMIM:603546;PMID:22152677)
- Metaphyseal irregularity (HP:0003025): Irregularity of the normally smooth surface of the metaphyses. Evidence: TAS. (OMIM:603546)
- Spondyloepimetaphyseal dysplasia (HP:0002651). Evidence: IEA. (OMIM:603546)
- Genu varum (HP:0002970): A positional abnormality marked by outward bowing of the legs in which the knees stay wide apart when a person stands with the feet and ankles together. Evidence: PCS. Frequency: 2/8. (PMID:22152677)
- Joint hypermobility (HP:0001382): The capability that a joint (or a group of joints) has to move, passively and/or actively, beyond normal limits along physiological axes. Evidence: TAS. (OMIM:603546)
- Narrow femoral neck (HP:0008819): An abnormally reduced diameter of the femoral neck (which is the process of bone, connecting the femoral head with the femoral shaft). Evidence: TAS. (OMIM:603546)
- 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:603546)
- Posterior scalloping of vertebral bodies (HP:0005121): An excessive concavity of the posterior surface of one or more vertebral bodies. Evidence: TAS. (OMIM:603546)
- 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: 8/8. (PMID:22152677)
- Dislocated radial head (HP:0003083): A dislocation of the head of the radius from its socket in the elbow joint. Evidence: IEA. (OMIM:603546)
- Kyphosis (HP:0002808): Exaggerated anterior convexity of the thoracic vertebral column. Evidence: PCS. Frequency: 3/8. (PMID:22152677)
- Irregular epiphyses (HP:0010582): An alteration of the normally smooth contour of the epiphysis leading to an irregular appearance. Evidence: PCS. (PMID:12966527)
- Hip dislocation (HP:0002827): Displacement of the femur from its normal location in the hip joint. Evidence: PCS. Frequency: 1/8. (PMID:22152677)
- Long proximal phalanx of finger (HP:0006127): Increased length of the proximal phalanx of finger. Evidence: TAS. (OMIM:603546)
- 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:22152677)
- Broad distal phalanx of finger (HP:0009836): Abnormally wide (broad) distal phalanx of finger. Evidence: TAS. (OMIM:603546)