Phenotypes associated with the disease spondyloepimetaphyseal dysplasia-short limb-abnormal calcification syndrome (OMIM:271665):
- Micromelia (HP:0002983): The presence of abnormally small extremities. Evidence: TAS. (OMIM:271665)
- Hypoplasia of the odontoid process (HP:0003311): Developmental hypoplasia of the dens of the axis. Evidence: TAS. (OMIM:271665)
- Thoracic hypoplasia (HP:0005257). Evidence: TAS. (OMIM:271665)
- Syringomyelia (HP:0003396): Dilated, glial-lined cavity in spinal cord. This cavity does not communicate with the central canal, and usually is between the dorsal columns unilaterally or bilaterally along the side of the cord. Evidence: TAS. (OMIM:271665)
- 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: PCS. Frequency: 11/20. (PMID:19110212)
- Short nose (HP:0003196): Distance from nasion to subnasale more than two standard deviations below the mean, or alternatively, an apparently decreased length from the nasal root to the nasal tip. Evidence: TAS. (OMIM:271665)
- Broad face (HP:0000283): Bizygomatic (upper face) and bigonial (lower face) width greater than 2 standard deviations above the mean (objective); or an apparent increase in the width of the face (subjective). Evidence: PCS. Frequency: 13/20. (PMID:19110212)
- 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:271665)
- Short finger (HP:0009381): Abnormally short finger associated with developmental hypoplasia. Evidence: PCS. Frequency: 2/2. (PMID:20223752)
- Bowing of the legs (HP:0002979): A bending or abnormal curvature affecting a long bone of the leg. Evidence: PCS. Frequency: 9/22. (PMID:19110212;PMID:20223752)
- Hypertelorism (HP:0000316): Interpupillary distance more than 2 SD above the mean (alternatively, the appearance of an increased interpupillary distance or widely spaced eyes). Evidence: PCS. Frequency: 19/22. (PMID:19110212;PMID:20223752)
- Metatarsus adductus (HP:0001840): The metatarsals are deviated medially (tibially), that is, the bones in the front half of the foot bend or turn in toward the body. Evidence: TAS. (OMIM:271665)
- Broad palm (HP:0001169): For children from birth to 4 years of age the palm width is more than 2 SD above the mean; for children from 4 to 16 years of age the palm width is above the 95th centile; or, the width of the palm appears disproportionately wide for the length. Evidence: PCS. Frequency: 22/22. (PMID:19110212;PMID:20223752)
- 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: PCS. Frequency: 22/22. (PMID:19110212;PMID:20223752)
- C1-C2 subluxation (HP:0003320): A partial dislocation of the atlantoaxial joints. Evidence: PCS. Frequency: 11/22. (PMID:19110212;PMID:20223752)
- Global developmental delay (HP:0001263): A delay in the achievement of motor or mental milestones in the domains of development of a child, including motor skills, speech and language, cognitive skills, and social and emotional skills. This term should only be used to describe children younger than five years of age. Evidence: PCS. Frequency: 4/22. (PMID:19110212;PMID:20223752)
- Calcification of falx cerebri (HP:0005462): The presence of calcium deposition in the falx cerebri. Evidence: TAS. (OMIM:271665)
- Long fibula (HP:0003085): Disproportionately long fibulae. Evidence: TAS. (OMIM:271665)
- 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: TAS. (OMIM:271665)
- Knee flexion contracture (HP:0006380): A type of knee joint contracture in which the knee is in a fixed bent (flexed) configuration such that it cannot be straightened actively or passively. Evidence: TAS. (OMIM:271665)
- Platyspondyly (HP:0000926): A flattened vertebral body shape with reduced distance between the vertebral endplates. Evidence: PCS. Frequency: 22/22. (PMID:19110212;PMID:20223752)
- 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:271665)
- Pectus excavatum (HP:0000767): A defect of the chest wall characterized by a depression of the sternum, giving the chest ("pectus") a caved-in ("excavatum") appearance. Evidence: PCS. Frequency: 6/22. (PMID:19110212;PMID:20223752)
- 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:19110212)
- Enlarged naris (HP:0009931): Increased aperture of the nostril. Evidence: PCS. Frequency: 17/22. (PMID:19110212;PMID:20223752)
- Posterior rib cupping (HP:0000922): Wide, concave posterior rib end. Evidence: TAS. (OMIM:271665)
- Pectus carinatum (HP:0000768): A deformity of the chest caused by overgrowth of the ribs and characterized by protrusion of the sternum. Evidence: PCS. Frequency: 1/2. (PMID:20223752)
- Elbow flexion contracture (HP:0002987): An elbow contracture that limits the ability of the elbow joint to be extended (straightened), meaning that the elbow is fixed in an flexed (bent) position. Evidence: TAS. (OMIM:271665)
- Proptosis (HP:0000520): An eye that is protruding anterior to the plane of the face to a greater extent than is typical. Evidence: TAS. (OMIM:271665)
- Tracheal calcification (HP:0002787): Calcification (abnormal deposits of calcium) in the tracheal tissues. Evidence: TAS. (OMIM:271665)
- Broad phalanx (HP:0006009): Increased side-to-side width of one or more phalanges of the fingers or toes. Evidence: TAS. (OMIM:271665)
- Flared metaphysis (HP:0003015): The presence of a splayed (i.e.,flared) metaphyseal segment of one or more long bones. Evidence: TAS. (OMIM:271665)
- Long philtrum (HP:0000343): Distance between nasal base and midline upper lip vermilion border more than 2 SD above the mean. Alternatively, an apparently increased distance between nasal base and midline upper lip vermilion border. Evidence: PCS. Frequency: 16/22. (PMID:19110212;PMID:20223752)
- Bell-shaped thorax (HP:0001591): The rib cage has the shape of a wide mouthed bell. That is, the superior portion of the rib cage is constricted, followed by a convex region, and the inferior portion of the rib cage expands again to have a large diameter. Evidence: TAS. (OMIM:271665)
- Wide anterior fontanel (HP:0000260): Enlargement of the anterior fontanelle with respect to age-dependent norms. Evidence: PCS. Frequency: 8/20. (PMID:19110212)
- Antenatal onset (HP:0030674): Onset prior to birth. Evidence: PCS. Frequency: 2/2. (PMID:20223752)
- Broad metacarpals (HP:0001230): Abnormally broad metacarpal bones. Evidence: TAS. (OMIM:271665)
- Calcification of cartilage (HP:0100593): The presence of calcium deposition in cartilage. Evidence: PCS. Frequency: 9/22. (PMID:19110212;PMID:20223752)
- Motor delay (HP:0001270): A type of Developmental delay characterized by a delay in acquiring motor skills. Evidence: PCS. Frequency: 15/22. (PMID:19110212;PMID:20223752)
- Abnormal calcification of the carpal bones (HP:0009164). Evidence: TAS. (OMIM:271665)
- Concave nasal ridge (HP:0011120): Nasal ridge curving posteriorly to an imaginary line that connects the nasal root and tip. Evidence: PCS. Frequency: 17/20. (PMID:19110212)
- Disproportionate short-limb short stature (HP:0008873): A type of disproportionate short stature characterized by a short limbs but an average-sized trunk. Evidence: PCS. Frequency: 20/20. (PMID:19110212)
- Hip subluxation (HP:0030043): A partial dislocation of the hip joint, whereby the head of the femur is partially displaced from the socket. Evidence: TAS. (OMIM:271665)
- High palate (HP:0000218): Height of the palate more than 2 SD above the mean (objective) or palatal height at the level of the first permanent molar more than twice the height of the teeth (subjective). Evidence: TAS. (OMIM:271665)
- Recurrent pneumonia (HP:0006532): An increased susceptibility to pneumonia as manifested by a history of recurrent episodes of pneumonia. Evidence: TAS. (OMIM:271665)
- Narrow chest (HP:0000774): Reduced width of the chest from side to side, associated with a reduced distance from the sternal notch to the tip of the shoulder. Evidence: PCS. Frequency: 15/22. (PMID:19110212;PMID:20223752)
- Short ribs (HP:0000773): Reduced rib length. Evidence: TAS. (OMIM:271665)
- Short phalanx of finger (HP:0009803): Short (hypoplastic) phalanx of finger, affecting one or more phalanges. Evidence: PCS. Frequency: 8/20. (PMID:19110212)
- Depressed nasal ridge (HP:0000457): Lack of prominence of the nose resulting from a posteriorly-placed nasal ridge. Evidence: PCS. Frequency: 2/2. (PMID:20223752)
- Short long bone (HP:0003026): One or more abnormally short long bone. Evidence: PCS. Frequency: 22/22. (PMID:19110212;PMID:20223752)
- Atlantoaxial instability (HP:0003467): Abnormally increased movement at the junction between the first cervical (atlas) and the second cervical (axis) vertebrae as a result of either a bony or ligamentous anomaly. Evidence: TAS. (OMIM:271665)
- Scoliosis (HP:0002650): The presence of an abnormal lateral curvature of the spine. Evidence: TAS. (OMIM:271665)
- Short palm (HP:0004279): Short palm. Evidence: PCS. Frequency: 22/22. (PMID:19110212;PMID:20223752)
- Spondyloepimetaphyseal dysplasia (HP:0002651). Evidence: TAS. (OMIM:271665)
- Spinal cord compression (HP:0002176): External mechanical compression of the spinal cord. Evidence: TAS. (OMIM:271665)
- 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: TAS. (OMIM:271665)
- Short neck (HP:0000470): Diminished length of the neck. Evidence: PCS. Frequency: 9/22. (PMID:19110212;PMID:20223752)
- Depressed nasal bridge (HP:0005280): Posterior positioning of the nasal root in relation to the overall facial profile for age. Evidence: TAS. (OMIM:271665)
- Restrictive ventilatory defect (HP:0002091): A functional defect characterized by reduced total lung capacity (TLC) not associated with abnormalities of expiratory airflow or airway resistance. Spirometrically, a restrictive defect is defined as FEV1 (forced expiratory volume in 1 second) and FVC (forced vital capacity) less than 80 per cent. Restrictive lung disease may be caused by alterations in lung parenchyma or because of a disease of the pleura, chest wall, or neuromuscular apparatus. Evidence: TAS. (OMIM:271665)
- Epiphyseal stippling (HP:0010655): The presence of abnormal punctate (speckled, dot-like) calcifications in one or more epiphyses. Evidence: TAS. (OMIM:271665)
- Anterior rib cupping (HP:0000907): Wide, concave anterior rib end. Evidence: TAS. (OMIM:271665)
- Triangular shaped distal phalanges of the hand (HP:0009875). Evidence: TAS. (OMIM:271665)
- Frontal bossing (HP:0002007): Bilateral bulging of the lateral frontal bone prominences with relative sparing of the midline. Evidence: TAS. (OMIM:271665)
- Progressive calcification of costochondral cartilage (HP:0006600). Evidence: TAS. (OMIM:271665)
- Micrognathia (HP:0000347): Developmental hypoplasia of the mandible. Evidence: TAS. (OMIM:271665)