Topic: Albright's hereditary osteodystrophy
Question: What are the symptoms of Albright's hereditary osteodystrophy ?
Answer: What are the signs and symptoms of Albright's hereditary osteodystrophy? Albright's hereditary osteodystophy is a genetic disorder that can cause many different symptoms. People with this disorder usually have short stature, obesity, round face, short bones in the hands and feet (brachydactyly), subcutaneous (under the skin) ossifications (replacement of cartilage by bone), and dimples on affected knuckles. Some people may have mild developmental delay. People with this disorder usually are resistant to parathyroid hormone (which is a condition called pseudohypoparathyroidism). This causes low levels of calcium in the bones and the blood. Low levels of calcium in the blood (hypocalcemia) can cause numbness, seizures, cataracts (cloudy lens in the eye), dental issues, and tetany (muscle twitches and hand and foot spasms). The Human Phenotype Ontology provides the following list of signs and symptoms for Albright's hereditary osteodystrophy. 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 joint morphology 90% Abnormality of calcium-phosphate metabolism 90% Cafe-au-lait spot 90% Gynecomastia 90% Hyperphosphatemia 90% Hyperthyroidism 90% Obesity 90% Precocious puberty 90% Round face 90% Skeletal dysplasia 90% Abnormality of the menstrual cycle 50% Abnormality of the penis 50% Coarse facial features 50% Cognitive impairment 50% Dry skin 50% Goiter 50% Scoliosis 50% Thin skin 50% Abnormality of the hip bone 7.5% Alopecia 7.5% Craniofacial hyperostosis 7.5% Hearing impairment 7.5% Neoplasm of the breast 7.5% Neoplasm of the thyroid gland 7.5% Polycystic ovaries 7.5% Recurrent fractures 7.5% Sarcoma 7.5% Testicular neoplasm 7.5% Visual impairment 7.5% Autosomal dominant inheritance - Basal ganglia calcification - Brachydactyly syndrome - Cataract - Choroid plexus calcification - Delayed eruption of teeth - Depressed nasal bridge - Elevated circulating parathyroid hormone (PTH) level - Full cheeks - Hypocalcemic tetany - Hypogonadism - Hypoplasia of dental enamel - Hypothyroidism - Intellectual disability - Low urinary cyclic AMP response to PTH administration - Nystagmus - Osteoporosis - Phenotypic variability - Pseudohypoparathyroidism - Seizures - Short finger - Short metacarpal - Short metatarsal - Short neck - Short stature - Short toe - Thickened calvaria - 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)