Question: What are the symptoms of Chromosome 17q11.2 deletion syndrome ?
Answer: What are the signs and symptoms of Chromosome 17q11.2 deletion syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Chromosome 17q11.2 deletion syndrome. 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% Abnormality of dental enamel 50% Alopecia 50% Cognitive impairment 50% Microcephaly 50% Short stature 50% Long foot 46% Intellectual disability 38% Abnormality of the eyelashes 7.5% Abnormality of the nasal alae 7.5% Aplasia/Hypoplasia of the eyebrow 7.5% Deviated nasal septum 7.5% Hypoplasia of the zygomatic bone 7.5% Long face 7.5% Macroorchidism 7.5% Midline defect of the nose 7.5% Neurological speech impairment 7.5% Seizures 7.5% Thin vermilion border 7.5% Axillary freckling 28/29 Cafe-au-lait spot 27/29 Cognitive impairment 27/29 Lisch nodules 27/29 Hypertelorism 25/29 Plexiform neurofibroma 22/29 Subcutaneous neurofibromas 22/29 Joint hypermobility 21/29 Spinal neurofibromas 9/14 Coarse facial features 17/29 Bone cyst 8/16 Delayed speech and language development 14/29 Large hands 13/28 Tall stature 13/28 Focal T2 hyperintense basal ganglia lesion 13/29 Muscular hypotonia 13/29 Specific learning disability 13/29 Scoliosis 12/28 Macrocephaly 9/23 Attention deficit hyperactivity disorder 8/24 Broad neck 9/29 Pectus excavatum 9/29 Abnormality of cardiovascular system morphology 8/28 Facial asymmetry 8/29 Neurofibrosarcoma 6/29 Optic glioma 5/27 Pes cavus 5/29 Low-set ears 4/29 Strabismus 4/29 Hearing impairment 3/29 Seizures 2/29 Autosomal dominant inheritance - Inguinal freckling - Overgrowth - Sporadic - 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