Question: What are the symptoms of Axial spondylometaphyseal dysplasia ?
Answer: What are the signs and symptoms of Axial spondylometaphyseal dysplasia? Common signs and sympotms of axial spondylometaphyseal dysplasia, include short stature, chest, spine, limb, and pelvic bone changes, and vision disturbance. People with axial spondylometaphyseal dysplasia may have a normal birth length, but demonstrate growth failure by late infancy to early childhood. A measurement called standard deviation (SD) is used to compare the height of different children. If a child's height is more than 2 SD's below the average height of other children the same age, the child is said to have short stature. This means that almost all of the other children that age (more than 95% or 19 out of 20) are taller. Individual case reports of children and an adult with axial spondlometaphyseal dysplasia demonstrate height as being between 2 to 6 SDs below average. Infants with axial spondlometaphyseal dysplasia tend to have a shortened chest with short ribs, a condition called thoracic hypoplasia. Thoracic hypoplasia tends to become more prominent in childhood, and less noticeable in adolescence and adulthood. Thoracic hypoplasia may cause mild to moderate breathing problems in infants and recurring lung infections in childhood. Young children with axial spondlometaphyseal dysplasia have shortened upper arms and upper leg bones, which may become less prominent as they grow. Spine changes include vertebrae that have a flattened appearance on x-ray. This finding is typically mild in infancy and early childhood, becomes more apparent in late childhood, then self-corrects by adulthood. Some individuals with axial spondylometaphyseal dysplasia develop scoliosis (curvature of the spine). Pelvic bone changes can be seen in infants and children. Some of these changes self-correct by adulthood. A condition called coxa vara (where the angle between the top of the femur and the femoral shaft is smaller than normal) is common beginning in late childhood and persists through adulthood. Coxa vara may affect gait (pattern or way of walking). Some people with axial spondlometaphyseal dysplasia have minor bone changes in their knees. Vision problems, including retinitis pigmentosa and/or optic atrophy, become evident in infancy or early childhood and rapidly worsen. Retinitis pigmentosa causes cells in the retina to breakdown and die, eventually resulting in vision loss. Optic atrophy causes vision to dim and reduces the field of vision. It also reduces the ability to see fine detail and color (ie., colors will seem faded). With the progression of optic atrophy, a person's pupil reaction to light diminishes and may eventually be lost. Long term outlook for vision for people with axial spondylometaphyseal dysplasia is poor. The Human Phenotype Ontology provides the following list of signs and symptoms for Axial spondylometaphyseal dysplasia. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Delayed skeletal maturation 90% Limb undergrowth 90% Platyspondyly 90% Short stature 90% Visual impairment 90% Abnormality of the hip bone 50% Enlarged thorax 50% Frontal bossing 50% Optic atrophy 50% Anteverted nares 7.5% Astigmatism 7.5% Hypertelorism 7.5% Photophobia 7.5% Proptosis 7.5% Short nose 7.5% Telecanthus 7.5% Anterior rib cupping - Autosomal recessive inheritance - Coxa vara - Narrow greater sacrosciatic notches - Nystagmus - Proximal femoral metaphyseal irregularity - Recurrent pneumonia - Rod-cone dystrophy - Short femoral neck - Spondylometaphyseal dysplasia - Thoracic hypoplasia - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.
Source: GARD

Question: What are the treatments for Axial spondylometaphyseal dysplasia ?
Answer: How might axial spondylometaphyseal dysplasia be treated? Is growth hormone therapy an option? Is surgery helpful? Can the vision problems be corrected? There is no specific treatment for axial spondylometaphyseal dysplasia. Symptoms such as lung infections, breathing difficulties, coxa vara, scoliosis, retinitis pigmentosa, and optic atrophy are managed individually. Specialists such as opthmologists, geneticists, and orthopedists work in concert in devloping an individualized treatment plan. We are unaware of any cases describing the use of growth hormone therapies for treatment of short stature caused by axial spondylometaphyseal dysplasia. Treatment of skeletal dysplasias with growth hormone therapy must be done with caution. The Little People of America, Inc Web site lists articles on repiratory and breathing problems in people with skeletal dysplasias, including an article titled Breathing Problems Among Little People: When to Be Concerned. Detailed information related to the management of retinitis pigmentosa can be accessed through GeneReviews and the Treatment and Medication sections of Medscape Reference. Detailed information related to the management of coxa vara can also be found in the Treatment sections of a Medscape Reference review article on this condition. Johns Hopkins Department of Orthopedic Surgery offers a Patient Guide to Scoliosis. MedlinePlus.gov provides information on optic atrophy. Further medical support resources can be found through the Little People of America, Inc.
Source: GARD