Question: What are the symptoms of X-linked hypohidrotic ectodermal dysplasia ?
Answer: What are the signs and symptoms of X-linked hypohidrotic ectodermal dysplasia? The Human Phenotype Ontology provides the following list of signs and symptoms for X-linked hypohidrotic ectodermal 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) Abnormal hair quantity 90% Delayed eruption of teeth 90% Depressed nasal ridge 90% Hypohidrosis 90% Microdontia 90% Frontal bossing 50% Anterior hypopituitarism 7.5% Hypertension 7.5% Short distal phalanx of finger 7.5% Type I diabetes mellitus 7.5% Abnormality of oral mucosa - Absent eyebrow - Absent nipple - Anhidrosis - Aplasia/Hypoplastia of the eccrine sweat glands - Brittle hair - Concave nail - Conical tooth - Depressed nasal bridge - Dry skin - Dysphonia - Eczema - Everted upper lip vermilion - Fever - Heat intolerance - Heterogeneous - Hoarse voice - Hypodontia - Hypohidrotic ectodermal dysplasia - Hypoplasia of the maxilla - Hypoplastic nipples - Hypoplastic-absent sebaceous glands - Hypotrichosis - Periorbital hyperpigmentation - Periorbital wrinkles - Prominent supraorbital ridges - Respiratory difficulties - Short chin - Short nose - Soft skin - Sparse eyebrow - Sparse eyelashes - Taurodontia - Thick vermilion border - Thin skin - Underdeveloped nasal alae - X-linked recessive inheritance - 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