Topic: 2q37 deletion syndrome
Question: What are the symptoms of 2q37 deletion syndrome ?
Answer: What are the signs and symptoms of 2q37 deletion syndrome? Most babies with 2q37 deletion syndrome are born with hypotonia, which usually improves with age. About 25 percent of those with this condition have autism, a developmental condition that affects communication and social interaction. The characteristic facial features include a prominent forehead, highly arched eyebrows, deep-set eyes, a flat nasal bridge, a thin upper lip, and minor ear abnormalities. Other features can include short stature, obesity, unusually short fingers and toes (brachymetaphalangy), sparse hair, heart defects, seizures, and an inflammatory skin disorder called eczema. A few people with 2q37 deletion syndrome have a rare form of kidney cancer called Wilms tumor. Some affected individuals can also have malformations of the brain, gastrointestinal system, kidneys, and/or genitalia. Unique is a source of information and support to families and individuals affected by rare chromosome disorders. On their Web site, they have a pamphlet that provides additional information on the signs and symptoms of 2q37 deletion syndrome. Click on the link below to view this information. http://www.rarechromo.org/information/Chromosome%20%202/2q37%20deletions%20FTNW.pdf The Human Phenotype Ontology provides the following list of signs and symptoms for 2q37 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) Cognitive impairment 90% Malar flattening 90% Muscular hypotonia 90% Round face 90% Abnormal hair quantity 50% Abnormality of the metacarpal bones 50% Abnormality of the palate 50% Anteverted nares 50% Aplasia/Hypoplasia of the eyebrow 50% Brachydactyly syndrome 50% Broad columella 50% Clinodactyly of the 5th finger 50% Deeply set eye 50% Depressed nasal bridge 50% Downturned corners of mouth 50% Eczema 50% Finger syndactyly 50% Frontal bossing 50% Highly arched eyebrow 50% Joint hypermobility 50% Microcephaly 50% Obesity 50% Seizures 50% Short foot 50% Short palm 50% Short stature 50% Single transverse palmar crease 50% Supernumerary nipple 50% Thin vermilion border 50% Toe syndactyly 50% Umbilical hernia 50% Underdeveloped nasal alae 50% Upslanted palpebral fissure 50% Abnormality of the aorta 7.5% Attention deficit hyperactivity disorder 7.5% Autism 7.5% Conductive hearing impairment 7.5% Congenital diaphragmatic hernia 7.5% Laryngomalacia 7.5% Macrocephaly 7.5% Multicystic kidney dysplasia 7.5% Nephroblastoma (Wilms tumor) 7.5% Obsessive-compulsive behavior 7.5% Pyloric stenosis 7.5% Short neck 7.5% Sleep disturbance 7.5% Stereotypic behavior 7.5% Tracheomalacia 7.5% Arrhythmia 5% Sensorineural hearing impairment 5% Subaortic stenosis 5% Aggressive behavior - Brachycephaly - Broad face - Broad nasal tip - Congenital onset - Hyperactivity - Hypoplasia of midface - Hyporeflexia - Intellectual disability - Pain insensitivity - Self-injurious behavior - Short metacarpal - Short metatarsal - Short phalanx of finger - Short toe - Somatic mutation - 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)