Topic: Mosaic trisomy 8
Question: What are the symptoms of Mosaic trisomy 8 ?
Answer: What are the signs and symptoms of Mosaic trisomy 8? The facial features are usually mild and can include elongation of the skull (scaphocephaly), prominent forehead, widely-spaced eyes, deeply set eyes, broad upturned nose, micrognathia, and ear abnormalities. Additional features can include: agenesis of the corpus callosum, highly arched or cleft palate, short and large neck, high stature, elongated thin trunk, and narrow shoulders and pelvis. Kidney and cardiac abnormalities are frequent. Camptodactyly, stiff joints, absent malformed kneecap, vertebral malformations such as scoliosis, as well as eye abnormalities also commonly observed. Most affected individuals have moderate intellectual disabilities (IQ between 50 and 75), with some people having a normal intelligence. There is no correlation between the percentage of trisomic cells and the severity of the intellectual deficit. Mosaic trisomy 8 also seems to predispose to Wilms tumors, myelodysplasias, and myeloid leukemia. The Human Phenotype Ontology provides the following list of signs and symptoms for Mosaic trisomy 8. 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 chromosome segregation 90% Cognitive impairment 90% Abnormality of pelvic girdle bone morphology 50% Abnormality of the antihelix 50% Abnormality of the ribs 50% Abnormality of the shoulder 50% Anteverted nares 50% Camptodactyly of finger 50% Deep palmar crease 50% Deep plantar creases 50% Deeply set eye 50% Dolichocephaly 50% Frontal bossing 50% Hypertelorism 50% Large earlobe 50% Limitation of joint mobility 50% Long face 50% Low-set, posteriorly rotated ears 50% Narrow chest 50% Opacification of the corneal stroma 50% Patellar aplasia 50% Scoliosis 50% Strabismus 50% Vertebral segmentation defect 50% Vesicoureteral reflux 50% Aplasia/Hypoplasia of the corpus callosum 7.5% Cleft palate 7.5% Cryptorchidism 7.5% Deviation of finger 7.5% Hearing impairment 7.5% Hypopigmented skin patches 7.5% Irregular hyperpigmentation 7.5% Short neck 7.5% Short stature 7.5% Tall stature 7.5% 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)