Question: What are the symptoms of Hypochondroplasia ?
Answer: What are the signs and symptoms of Hypochondroplasia? The Human Phenotype Ontology provides the following list of signs and symptoms for Hypochondroplasia. 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) Abnormal form of the vertebral bodies 90% Brachydactyly syndrome 90% Micromelia 90% Short stature 90% Short toe 90% Skeletal dysplasia 90% Abnormality of pelvic girdle bone morphology 50% Abnormality of the elbow 50% Abnormality of the femur 50% Genu varum 50% Joint hypermobility 50% Apnea 7.5% Cognitive impairment 7.5% Hyperlordosis 7.5% Intellectual disability 7.5% Macrocephaly 7.5% Osteoarthritis 7.5% Scoliosis 7.5% Spinal canal stenosis 7.5% Aplasia/hypoplasia of the extremities - Autosomal dominant inheritance - Childhood onset short-limb short stature - Flared metaphysis - Frontal bossing - Limited elbow extension - Lumbar hyperlordosis - Malar flattening - Short long bone - 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 Hypochondroplasia ?
Answer: How might hypochondroplasia be treated? The evaluation of children with hypochondroplasia usually does not differ significantly from the evaluation of children with normal stature, except for genetic counseling issues (such as risk of recurrence) and dealing with parental concerns about short stature. Management of short stature may be influenced by the concerns and expectations of the parents. One reasonable approach is to address the parents' concerns about the height of their child rather than attempting to treat the child. Developmental intervention and special education may be appropriate, if it is indicated in the affected individual. If spinal stenosis (narrowing of the spine) is present, a procedure called a laminectomy may be considered. This is a type of surgery that can take pressure off the spinal nerves or spinal canal. However, one study found that about 70% of symptomatic individuals with achondroplasia experienced total relief of symptoms following decompression, without having a laminectomy. Decompression is a less invasive procedure. Support groups can help the affected individual and the family adapt to short stature through peer support, personal example, and social awareness programs. Support groups may offer information on employment, education, disability rights, adoption of children of short stature, medical issues, suitable clothing, adaptive devices, and parenting through local meetings, workshops and seminars. To see the contact information for several support groups for hypochondroplasia, click here. Sometimes, for individuals with hypochondroplasia who are more severely affected, the features may overlap with those of achondroplasia. In these cases, recommendations for the management of achondroplasia (outlined by the American Academy of Pediatrics Committee on Genetics) may be considered. The full report on these recommendations may be viewed here. For a more limited description of management of achondroplasia on our Web site, click here.
Source: GARD