Topic: 22q11.2 deletion syndrome
Question: What are the symptoms of 22q11.2 deletion syndrome ?
Answer: What are the signs and symptoms of 22q11.2 deletion syndrome? Signs and symptoms of 22q11.2 deletion syndrome vary greatly from person to person, even among affected people in the same family. Symptoms may include: Heart defects (74% of individuals) Palatal abnormalities (69% of individuals) Characteristic facial features (e.g., elongated face, almond-shaped eyes, wide nose, and small ears) Learning difficulties (70-90% of individuals) Immune system problems (75% of individuals) Low levels of calcium (50% of individuals) Significant feeding problems (30% of individuals) Kidney anomalies (37% of individuals) Hearing loss Laryngotracheoesophageal anomalies Growth hormone deficiency Autoimmune disorders (e.g., thrombocytopenia, juvenile rheumatoid arthritis, overactive thyroid, vitiligo, neutropenia, and hemolytic anemia) Seizures Skeletal abnormalities (e.g., extra fingers, toes, or ribs, wedge-shaped spinal bones, craniosynostosis) Psychiatric illness Eye abnormalities (e.g., ptosis, coloboma, cataract, and strabismus) Central nervous system abnormalities Gastrointestinal anomalies Preauricular tags Abnormal growths (e.g., hepatoblastoma, renal cell carcinoma, Wilm's tumor, and neuroblastoma) The Human Phenotype Ontology provides the following list of signs and symptoms for 22q11.2 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) Abnormal nasal morphology 90% Abnormality of the aorta 90% Abnormality of the pharynx 90% Abnormality of the philtrum 90% Abnormality of the pulmonary valve 90% Abnormality of the voice 90% Aplasia/Hypoplasia of the thymus 90% Atria septal defect 90% Cognitive impairment 90% Epicanthus 90% Highly arched eyebrow 90% Low-set, posteriorly rotated ears 90% Muscular hypotonia 90% Neurological speech impairment 90% Oral cleft 90% Premature birth 90% Prominent nasal bridge 90% Short stature 90% Telecanthus 90% Tetralogy of Fallot 90% Truncus arteriosus 90% Upslanted palpebral fissure 90% Ventricular septal defect 90% Acne 50% Anonychia 50% Aplasia/Hypoplasia of the earlobes 50% Aplastic/hypoplastic toenail 50% Attention deficit hyperactivity disorder 50% Carious teeth 50% Clinodactyly of the 5th finger 50% Constipation 50% Deeply set eye 50% External ear malformation 50% Hearing impairment 50% Hypocalcemia 50% Hypoparathyroidism 50% Hypoplasia of the zygomatic bone 50% Intrauterine growth retardation 50% Long face 50% Malar flattening 50% Microcephaly 50% Neoplasm of the nervous system 50% Otitis media 50% Overfolded helix 50% Pes planus 50% Pointed chin 50% Ptosis 50% Seborrheic dermatitis 50% Short neck 50% Thin vermilion border 50% Underdeveloped nasal alae 50% Abnormality of dental enamel 7.5% Abnormality of female internal genitalia 7.5% Abnormality of periauricular region 7.5% Abnormality of the aortic valve 7.5% Abnormality of the hip bone 7.5% Abnormality of the thorax 7.5% Abnormality of the tricuspid valve 7.5% Aganglionic megacolon 7.5% Aplasia/Hypoplasia affecting the eye 7.5% Arachnodactyly 7.5% Arthritis 7.5% Asthma 7.5% Atelectasis 7.5% Autism 7.5% Autoimmunity 7.5% Biliary tract abnormality 7.5% Blepharophimosis 7.5% Bowel incontinence 7.5% Bowing of the long bones 7.5% Brachydactyly syndrome 7.5% Camptodactyly of finger 7.5% Cataract 7.5% Choanal atresia 7.5% Chronic obstructive pulmonary disease 7.5% Cleft palate 7.5% Craniosynostosis 7.5% Cryptorchidism 7.5% Dilatation of the ascending aorta 7.5% Displacement of the external urethral meatus 7.5% Facial asymmetry 7.5% Feeding difficulties in infancy 7.5% Foot polydactyly 7.5% Gastrointestinal hemorrhage 7.5% Hand polydactyly 7.5% Hernia of the abdominal wall 7.5% Holoprosencephaly 7.5% Hyperlordosis 7.5% Hypertelorism 7.5% Hypertensive crisis 7.5% Hyperthyroidism 7.5% Hypothyroidism 7.5% Intestinal malrotation 7.5% Joint hypermobility 7.5% Multicystic kidney dysplasia 7.5% Narrow mouth 7.5% Obsessive-compulsive behavior 7.5% Oculomotor apraxia 7.5% Optic atrophy 7.5% Patellar dislocation 7.5% Patent ductus arteriosus 7.5% Polycystic kidney dysplasia 7.5% Pyloric stenosis 7.5% Recurrent respiratory infections 7.5% Recurrent urinary tract infections 7.5% Renal hypoplasia/aplasia 7.5% Sandal gap 7.5% Seizures 7.5% Sensorineural hearing impairment 7.5% Short distal phalanx of finger 7.5% Spina bifida 7.5% Splenomegaly 7.5% Stereotypic behavior 7.5% Strabismus 7.5% Subcutaneous hemorrhage 7.5% Thrombocytopenia 7.5% Toe syndactyly 7.5% Ulnar deviation of finger 7.5% Umbilical hernia 7.5% Urogenital fistula 7.5% Venous insufficiency 7.5% Vesicoureteral reflux 7.5% Smooth philtrum 6/6 Intrauterine growth retardation 5/6 Highly arched eyebrow 4/5 Underdeveloped nasal alae 4/6 Pointed chin 3/5 Deeply set eye 3/6 Behavioral abnormality 2/6 Cleft palate 1/6 Truncus arteriosus 1/6 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)