Her presentation was preceded for a number of weeks by social stressors of an ill family member and another family member moving away. She had also been diagnosed and treated for a respiratory infection several weeks prior to presentation. [casereports.bmj.com]

Aside from these manifestations, our patient presented with macrosomia at birth and currently presents macrocephaly with normal MRI, conditions not usually described as part of 2q37 syndrome. [bmcpediatr.biomedcentral.com]

She also presents right hemihypertrophy. [eje.bioscientifica.com]

This is the first time that these two variants are present in the same individual. [scielo.org.co]

In addition, she presented bilateral brachymetatarsia of the third to fifth toes and brachymetacarpia of the third to fifth metacarpal bones (Fig. 2). [e-apem.org]

• Short Stature

  At the age of 10 years, she visited the outpatient clinic of pediatric endocrinology due to short stature. [e-apem.org]

  This condition is characterized by short stature, weak muscle tone (hypotonia) in infancy, mild to severe intellectual disability and developmental delay, autistic behavior, obesity, characteristic facial features, and other physical abnormalities, such [rarediseases.org]

  stature, obesity, hypotonia, characteristic facial appearance, autism, and skeletal defects. [saspublishers.com]

  Additional features of this condition may include short stature, obesity, or sparse hair. [medlineplus.gov]

• Weight Gain

  Psychiatric medications such as selective serotonin reuptake inhibitors might regulate the behavioural symptoms commonly seen in patients with PWS, but these do not mediate the binge eating and weight gain symptoms (Reference Martin, State and KoenigMartin [cambridge.org]

• Arachnodactyly

  Both disorders have been associated with moderate psychomotor retardation, autism, ectopic neurohypophysis, arachnodactyly, congenital heart disease, and cardiovascular disorders. [scielo.org.co]

  The other was an 18-year-old female with congenital heart malformations, developmental delay, autism, arachnodactyly and a concurrent pathogenic duplication in the 2p25.3p24.3 region [14]. [bmcpediatr.biomedcentral.com]

• Vomiting

  At the age of 7 years, she was admitted to the hospital due to coughing and vomiting. The chest radiograph showed cardiomegaly, and the echocardiogram revealed myocardial dysfunction with a dilated left ventricle. [e-apem.org]

• Eczema

  Treatments are available for seizures, eczema, asthma, infections, and certain bodily ailments. [en.wikipedia.org]

  […] were noted to have developmental delay and facial dysmorphism (round face, flattened nasal bridge, deep-set eyes, up-slanting palpebral fissures, anteverted nares, thin upper lip) and sometimes: brachydactyly (55%), behavioral abnormalities, seizures, eczema [search.clinicalgenome.org]

  Other features of 2q37 deletion syndrome can include seizures and an inflammatory skin disorder called eczema. Some affected individuals have malformations of the brain, heart, gastrointestinal system, kidneys, or genitalia. [encyclopedia.pub]

  depressed nasal bridge, thin upper lip and arched eyebrows and late-onset abnormalities such as recurrent otitis and lower respiratory tract infection, umbilical and inguinal hernias, articulation dislocation, sparse or thin hair, joint laxity and eczema [bmcpediatr.biomedcentral.com]

• Delusion

  {at}gmail.com Summary A 21-year-old woman with moderate learning disability secondary to chromosome 2 microdeletion at q37 was admitted to a general adult psychiatric ward following a period of agitation with incessant pressure of speech, nihilistic delusions [casereports.bmj.com]

• Round Face

  Cases were noted to have developmental delay and facial dysmorphism (round face, flattened nasal bridge, deep-set eyes, up-slanting palpebral fissures, anteverted nares, thin upper lip) and sometimes: brachydactyly (55%), behavioral abnormalities, seizures [search.clinicalgenome.org]

  Citation: European Journal of Endocrinology 160, 4; 10.1530/EJE-08-0865 Download Figure Figure 1 Facial appearance of the index (A) and sister (E) showing the round face and strabismus. [eje.bioscientifica.com]

  In addition, they may have dysmorphic facies, characterised by microcephaly, round face, prominent large nasal bridge, hypertelorism, epicanthal folds, downward slanting palpebral fissures, downturned corners of the mouth, low-set ears, micrognathia, [cambridge.org]

• Hyperactivity

  Summary Microdeletion syndrome is an important topic in intellectual disability, associated with various psychiatric symptoms, such as autism, attention deficit, hyperactivity, obsession and compulsion, and psychosis. [cambridge.org]

The heterogeneous clinical phenotype derives from the chromosomal rearrangement found, which allows describing, interpreting, and providing the patient with timely targeted treatment and the respective family genetic counseling. [scielo.org.co]

Most cases are not inherited.[3790] Treatment depends on the symptoms and may require several specialists.[13334] For more information, visit GARD. [rarediseases.org]

Treatments are available for seizures, eczema, asthma, infections, and certain bodily ailments. [en.wikipedia.org]

After three weeks, she recovered with medical treatment. Four months later, she was admitted to the hospital again due to fever, dizziness, and chest discomfort. [e-apem.org]

A combination of medications such as antipsychotics and mood stabilisers have been used in the treatment of those diagnosed with bipolar disorder (Reference Boer, Holland and WhittingtonBoer 2002). [cambridge.org]

Prognosis After the first year of life, survival rates are high and morbidity is low. [cambridge.org]

[citation needed] Prognosis[edit] While only a few adults have been reported with 2q37 microdeletion syndrome, it is predicted that this number will rise as various research studies continue to demonstrate that most with the disorder do not have a shortened [en.wikipedia.org]

Epidemiology, cytogenetics and clinical features. Human Genetics, 44: 227–75.Google ScholarPubMed Nixon, GM, Brouillette, RT (2002) Sleep and breathing in Prader–Willi syndrome. [cambridge.org]

Prevention of microdeletion syndromes and associated disabilities Prevention of microdeletion syndromes can be done via DNA-based prenatal diagnosis. [cambridge.org]