What are the symptoms of Achondrogenesis ?
What are the signs and symptoms of Achondrogenesis? The Human Phenotype Ontology provides the following list of signs and symptoms for Achondrogenesis. 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) Abnormality of bone mineral density 90% Anteverted nares 90% Aplasia/Hypoplasia of the lungs 90% Brachydactyly syndrome 90% Frontal bossing 90% Hydrops fetalis 90% Long philtrum 90% Macrocephaly 90% Malar flattening 90% Micromelia 90% Narrow chest 90% Short neck 90% Short nose 90% Short stature 90% Short thorax 90% Short toe 90% Skeletal dysplasia 90% Thickened nuchal skin fold 90% Abnormality of the ribs 50% Polyhydramnios 50% Recurrent fractures 50% Talipes 50% Umbilical hernia 50% Cystic hygroma 7.5% Postaxial hand polydactyly 7.5% Abdominal distention - Abnormal foot bone ossification - Abnormal hand bone ossification - Abnormality of the femoral metaphysis - Abnormality of the foot - Absent or minimally ossified vertebral bodies - Absent vertebral body mineralization - Autosomal dominant inheritance - Autosomal recessive inheritance - Barrel-shaped chest - Beaded ribs - Breech presentation - Broad clavicles - Broad long bones - Cleft palate - Decreased skull ossification - Depressed nasal bridge - Disproportionate short-limb short stature - Disproportionate short-trunk short stature - Edema - Flat face - Horizontal ribs - Hypoplasia of the radius - Hypoplastic ilia - Hypoplastic iliac wing - Hypoplastic ischia - Hypoplastic scapulae - Inguinal hernia - Neonatal short-limb short stature - Protuberant abdomen - Respiratory insufficiency - Short clavicles - Short long bone - Short ribs - Short tubular bones (hand) - Stillbirth - Unossified vertebral bodies - 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.