Question: What are the symptoms of Hypomandibular faciocranial dysostosis ?
Answer: What are the signs and symptoms of Hypomandibular faciocranial dysostosis? The Human Phenotype Ontology provides the following list of signs and symptoms for Hypomandibular faciocranial dysostosis. 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) Anteverted nares 90% Aplasia/Hypoplasia of the tongue 90% Cognitive impairment 90% Low-set, posteriorly rotated ears 90% Malar flattening 90% Recurrent respiratory infections 90% Short nose 90% Choanal atresia 50% Cleft palate 50% Craniosynostosis 50% Laryngeal atresia 50% Narrow mouth 50% Optic nerve coloboma 50% Polyhydramnios 50% Proptosis 50% Abnormality of female internal genitalia 7.5% Atria septal defect 7.5% Patent ductus arteriosus 7.5% Tracheal stenosis 7.5% Trigonocephaly 7.5% Upslanted palpebral fissure 7.5% Aglossia - Autosomal recessive inheritance - Choanal stenosis - Coronal craniosynostosis - Hypoplasia of the maxilla - Pursed lips - 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