Question: What are the symptoms of Mastocytosis cutaneous with short stature conductive hearing loss and microtia ?
Answer: What are the signs and symptoms of Mastocytosis cutaneous with short stature conductive hearing loss and microtia? The Human Phenotype Ontology provides the following list of signs and symptoms for Mastocytosis cutaneous with short stature conductive hearing loss and microtia. 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 the fontanelles or cranial sutures 90% Abnormality of the outer ear 90% Abnormality of the palate 90% Camptodactyly of finger 90% Clinodactyly of the 5th finger 90% Conductive hearing impairment 90% Hypermelanotic macule 90% Mastocytosis 90% Microcephaly 90% Muscular hypotonia 90% Optic atrophy 90% Proptosis 90% Pruritus 90% Seizures 90% Short stature 90% Thick lower lip vermilion 90% Triangular face 90% Upslanted palpebral fissure 90% Urticaria 90% Abnormal nasal morphology 7.5% Lower limb asymmetry 7.5% Prominent supraorbital ridges 7.5% Scoliosis 7.5% Abnormality of metabolism/homeostasis - Abnormality of skin pigmentation - Autosomal recessive inheritance - Cutaneous mastocytosis - Feeding difficulties - High palate - Intellectual disability - Microtia - Underdeveloped nasal alae - Wide nasal bridge - 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