Topic: Dyskeratosis congenita autosomal recessive
Question: What are the symptoms of Dyskeratosis congenita autosomal recessive ?
Answer: What are the signs and symptoms of Dyskeratosis congenita autosomal recessive? The Human Phenotype Ontology provides the following list of signs and symptoms for Dyskeratosis congenita autosomal recessive. 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 neutrophils 90% Abnormality of the fingernails 90% Anemia 90% Hypermelanotic macule 90% Thrombocytopenia 90% Abnormality of coagulation 50% Abnormality of female internal genitalia 50% Abnormality of the pharynx 50% Abnormality of the testis 50% Anonychia 50% Aplasia/Hypoplasia of the skin 50% Aplastic/hypoplastic toenail 50% Bone marrow hypocellularity 50% Carious teeth 50% Cellular immunodeficiency 50% Cognitive impairment 50% Hyperhidrosis 50% Hypopigmented skin patches 50% Intrauterine growth retardation 50% Malabsorption 50% Palmoplantar keratoderma 50% Recurrent fractures 50% Recurrent respiratory infections 50% Rough bone trabeculation 50% Short stature 50% Skin ulcer 50% Telangiectasia of the skin 50% Tracheoesophageal fistula 50% Abnormal blistering of the skin 7.5% Abnormality of the eyebrow 7.5% Alopecia 7.5% Aseptic necrosis 7.5% Cataract 7.5% Cerebral calcification 7.5% Cirrhosis 7.5% Diabetes mellitus 7.5% Displacement of the external urethral meatus 7.5% Hearing impairment 7.5% Hepatic failure 7.5% Hepatomegaly 7.5% Hypopigmentation of hair 7.5% Inflammatory abnormality of the eye 7.5% Lymphoma 7.5% Neoplasm of the pancreas 7.5% Premature graying of hair 7.5% Reduced bone mineral density 7.5% Scoliosis 7.5% Splenomegaly 7.5% Aplastic anemia - Autosomal recessive inheritance - Esophageal stricture - Hepatic fibrosis - Hyperpigmentation of the skin - Increased lacrimation - Intellectual disability - Microcephaly - Microdontia - Nail dysplasia - Nasolacrimal duct obstruction - Oral leukoplakia - Osteoporosis - Phenotypic variability - Pterygium formation (nails) - Pulmonary fibrosis - Small nail - Sparse eyelashes - Sparse scalp hair - 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)