Question: What are the symptoms of Acromesomelic dysplasia Maroteaux type ?
Answer: What are the signs and symptoms of Acromesomelic dysplasia Maroteaux type? The Human Phenotype Ontology provides the following list of signs and symptoms for Acromesomelic dysplasia Maroteaux type. 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 50% Bowing of the long bones 50% Brachydactyly syndrome 50% Depressed nasal bridge 50% Dolichocephaly 50% Frontal bossing 50% Hyperlordosis 50% Joint hypermobility 50% Kyphosis 50% Limitation of joint mobility 50% Micromelia 50% Scoliosis 50% Short stature 50% Sprengel anomaly 50% Acromesomelia - Autosomal recessive inheritance - Beaking of vertebral bodies - Broad finger - Broad metacarpals - Broad metatarsal - Broad phalanx - Cone-shaped epiphyses of the phalanges of the hand - Disproportionate short stature - Flared metaphysis - Hypoplasia of the radius - Joint laxity - Limited elbow extension - Long hallux - Lower thoracic kyphosis - Lumbar hyperlordosis - Ovoid vertebral bodies - Prominent forehead - Radial bowing - Redundant skin on fingers - Short metacarpal - Short metatarsal - Short nail - Short nose - Thoracolumbar interpediculate narrowness - Thoracolumbar kyphosis - 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