Phenotypes associated with the disease X-linked spondyloepimetaphyseal dysplasia (OMIM:300106):
- Broad phalanx (HP:0006009): Increased side-to-side width of one or more phalanges of the fingers or toes. Evidence: TAS. (OMIM:300106)
- Limited elbow extension (HP:0001377): Limited ability to straighten the arm at the elbow joint. Evidence: IEA. (OMIM:300106)
- Short foot (HP:0001773): A measured foot length that is more than 2 SD below the mean for a newborn of 27 - 41 weeks gestation, or foot that is less than the 3rd centile for individuals from birth to 16 years of age (objective). Alternatively, a foot that appears disproportionately short (subjective). Evidence: TAS. (OMIM:300106)
- 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: PCS. Frequency: 9/9. (PMID:27236923)
- Hypoplasia of the odontoid process (HP:0003311): Developmental hypoplasia of the dens of the axis. Evidence: IEA. (OMIM:300106)
- Narrow pelvis bone (HP:0003275): Reduced side to side width of the pelvis. Evidence: IEA. (OMIM:300106)
- Prominent styloid process of ulna (HP:0004981). Evidence: IEA. (OMIM:300106)
- Broad metacarpals (HP:0001230): Abnormally broad metacarpal bones. Evidence: TAS. (OMIM:300106)
- Cone-shaped distal radial epiphysis (HP:0004000): The distal epiphysis (rounded portion of bone at the far end of the radius distal to the growth plate) has an abnormal cone-shaped appearance. Evidence: TAS. (OMIM:300106)
- 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:300106)
- Broad long bone diaphyses (HP:0006371): Increased width of the diaphysis of long bones. Evidence: TAS. (OMIM:300106)
- Childhood onset (HP:0011463): Onset of disease at the age of between 1 and 5 years. Evidence: PCS. Frequency: 9/9. (PMID:27236923)
- Cone-shaped epiphyses of the phalanges of the hand (HP:0010230): A cone-shaped appearance of the epiphyses of the fingers of the hand, producing a 'ball-in-a-socket' appearance. The related entity 'angel-shaped' epiphysis refers to a pronounced cone-shaped epiphysis in combination with a pseudoepiphysis at the distal end of a phalanx. Evidence: IEA. (OMIM:300106)
- Lumbar hyperlordosis (HP:0002938): An abnormal accentuation of the inward curvature of the spine in the lumbar region. Evidence: PCS. Frequency: 7/8. (PMID:27236923)
- Radial deviation of the hand (HP:0009486): An abnormal position of the hand in which the wrist is bent toward the radius (i.e., toward the thumb). Evidence: IEA. (OMIM:300106)
- Waddling gait (HP:0002515): Weakness of the hip girdle and upper thigh muscles, for instance in myopathies, leads to an instability of the pelvis on standing and walking. If the muscles extending the hip joint are affected, the posture in that joint becomes flexed and lumbar lordosis increases. The patients usually have difficulties standing up from a sitting position. Due to weakness in the gluteus medius muscle, the hip on the side of the swinging leg drops with each step (referred to as Trendelenburg sign). The gait appears waddling. The patients frequently attempt to counteract the dropping of the hip on the swinging side by bending the trunk towards the side which is in the stance phase (in the German language literature this is referred to as Duchenne sign). Similar gait patterns can be caused by orthopedic conditions when the origin and the insertion site of the gluteus medius muscle are closer to each other than normal, for instance due to a posttraumatic elevation of the trochanter or pseudarthrosis of the femoral neck. Evidence: PCS. Frequency: 9/9. (PMID:27236923)
- Cone-shaped metacarpal epiphyses (HP:0006059): A cone-shaped appearance of the epiphyses of the metacarpal bones, producing a 'ball-in-a-socket' appearance. This epiphyses are located at the distal ends of the metacarpal bones. Evidence: TAS. (OMIM:300106)
- Long ulna (HP:0003988): Increased length of the ulna. Evidence: IEA. (OMIM:300106)
- Short clavicles (HP:0000894): Reduced length of the clavicles. Evidence: IEA. (OMIM:300106)
- Intellectual disability (HP:0001249): The term intellectual disability or intellectual developmental disorder is used to describe significantly sub-average intellectual and adaptive functioning based on clinical assessment and as measured by individually administered, appropriately normed, standardized and validated tests of intellectual functioning and adaptive behavior, with onset during the developmental period from infancy through adolescence. Evidence: PCS. Frequency: 0/8. (PMID:27236923)
- Short phalanx of finger (HP:0009803): Short (hypoplastic) phalanx of finger, affecting one or more phalanges. Evidence: TAS. (OMIM:300106)
- Disproportionate short-trunk short stature (HP:0003521): A type of disproportionate short stature characterized by a short trunk but a average-sized limbs. Evidence: IEA. (OMIM:300106)
- Short long bone (HP:0003026): One or more abnormally short long bone. Evidence: TAS. (OMIM:300106)
- Broad long bones (HP:0005622): Increased cross-section (diameter) of the long bones. Note that widening may primarily affect specific regions of long bones (e.g., diaphysis or metaphysis), but this should be coded separately. Evidence: TAS. (OMIM:300106)
- Abnormality of alkaline phosphatase level (HP:0004379): An abnormality of alkaline phosphatase level. Evidence: PCS. Frequency: 0/17. (PMID:27236923)
- Short palm (HP:0004279): Short palm. Evidence: TAS. (OMIM:300106)
- 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: IEA. (OMIM:300106)
- Metaphyseal irregularity (HP:0003025): Irregularity of the normally smooth surface of the metaphyses. Evidence: IEA. (OMIM:300106)
- Spondyloepimetaphyseal dysplasia (HP:0002651). Evidence: IEA. (OMIM:300106)
- 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: 9/9. (PMID:27236923)
- 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: PCS. Frequency: 5/9. (PMID:27236923)
- Anterior wedging of T11 (HP:0004573): An abnormality of the shape of the thoracic vertebra T11 such that it is wedge-shaped (narrow towards the front). Evidence: TAS. (OMIM:300106)
- Cone-shaped epiphyses fused within their metaphyses (HP:0005066). Evidence: IEA. (OMIM:300106)
- Long fibula (HP:0003085): Disproportionately long fibulae. Evidence: IEA. (OMIM:300106)
- Flat acetabular roof (HP:0003180): Flattening of the superior part of the acetabulum, which is a cup-shaped cavity at the base of the hipbone into which the ball-shaped head of the femur fits. The acetabular roof thereby appears horizontal rather than arched, as it normally does. Evidence: IEA. (OMIM:300106)
- Anterior wedging of T12 (HP:0011940): An abnormality of the shape of the thoracic vertebra T12 such that it is wedge-shaped (narrow towards the front). Evidence: TAS. (OMIM:300106)
- Kyphosis (HP:0002808): Exaggerated anterior convexity of the thoracic vertebral column. Evidence: IEA. (OMIM:300106)
- X-linked recessive inheritance (HP:0001419): A mode of inheritance that is observed for recessive traits related to a gene encoded on the X chromosome. In the context of medical genetics, X-linked recessive disorders manifest in males (who have one copy of the X chromosome and are thus hemizygotes), but generally not in female heterozygotes who have one mutant and one normal allele. Evidence: PCS. (PMID:27236923)
- Platyspondyly (HP:0000926): A flattened vertebral body shape with reduced distance between the vertebral endplates. Evidence: PCS. Frequency: 3/3. (PMID:27236923)
- Flared iliac wing (HP:0002869): Widening of the ilium ala, that is of the wing of the ilium, combined with external rotation, leading to a flared appearance of the iliac wing. Evidence: TAS. (OMIM:300106)
- Hypoplasia of the maxilla (HP:0000327): 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:300106)
- Abnormal facial shape (HP:0001999): An abnormal morphology (form) of the face or its components. Evidence: PCS. Frequency: 0/9. (PMID:27236923)
- Pectus carinatum (HP:0000768): A deformity of the chest caused by overgrowth of the ribs and characterized by protrusion of the sternum. Evidence: IEA. (OMIM:300106)
- Posterior rib cupping (HP:0000922): Wide, concave posterior rib end. Evidence: IEA. (OMIM:300106)
- Delayed ossification of carpal bones (HP:0001216): Ossification of carpal bones occurs later than age-adjusted norms. Evidence: TAS. (OMIM:300106)