Question: What are the symptoms of Schneckenbecken dysplasia ?
Answer: What are the signs and symptoms of Schneckenbecken dysplasia? The Human Phenotype Ontology provides the following list of signs and symptoms for Schneckenbecken 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) Abnormality of pelvic girdle bone morphology 90% Abnormality of the fibula 90% Abnormality of the metaphyses 90% Lymphedema 90% Macrocephaly 90% Malar flattening 90% Micromelia 90% Narrow chest 90% Polyhydramnios 90% Short neck 90% Sprengel anomaly 90% Abnormality of the fingernails 50% Cryptorchidism 50% Dolichocephaly 50% Hypoplastic toenails 50% Accelerated skeletal maturation 7.5% Cleft palate 7.5% Tarsal synostosis 7.5% Advanced ossification of carpal bones - Advanced tarsal ossification - Anterior rib cupping - Autosomal recessive inheritance - Brachydactyly syndrome - Disproportionate short-limb short stature - Dumbbell-shaped long bone - Flat acetabular roof - Flat midface - Hypoplastic scapulae - Lateral clavicle hook - Metaphyseal irregularity - Ovoid vertebral bodies - Short ribs - 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