@article{Kostopoulou2019HyperinsulinaemicHA, title={Hyperinsulinaemic hypoglycaemia: A new presentation of 16p11.2 deletion syndrome}, author={Eirini Kostopoulou and Antonia Dastamani and Silvana Caiulo and Hannah Antell and Sarah E. [semanticscholar.org]

Germinoma is the most common subtype, and it is present in about two-thirds of patients (1). [edm.bioscientifica.com]

Boy aged 8 years that presented with PMR and difficulties with expressive language and writing. Case 4. [analesdepediatria.org]

Obesity, a major comorbidity present in 50% of the carriers by the age of 7 years, does not correlate with FSIQ or any behavioural trait. Seizures are present in 24% of carriers and occur independently of other symptoms. [jmg.bmj.com]

His ophthalmic features included strabismus, hyperopia, and ptosis, and a posterior embryotoxon was present bilaterally. [hindawi.com]

• Poor Feeding

  […] difficulties Feeding problems Poor feeding [ more ] 0011968 Gastroesophageal reflux Acid reflux Acid reflux disease Heartburn [ more ] 0002020 Hand polydactyly Extra finger 0001161 Hemivertebrae Missing part of vertebrae 0002937 Hypertelorism Wide-set [rarediseases.info.nih.gov]

• Feeding Difficulties

  difficulties Feeding problems Poor feeding [ more ] 0011968 Gastroesophageal reflux Acid reflux Acid reflux disease Heartburn [ more ] 0002020 Hand polydactyly Extra finger 0001161 Hemivertebrae Missing part of vertebrae 0002937 Hypertelorism Wide-set [rarediseases.info.nih.gov]

• Atrial Septal Defect

  septal defect An opening in the wall separating the top two chambers of the heart Hole in heart wall separating two upper heart chambers [ more ] 0001631 Attention deficit hyperactivity disorder Attention deficit Attention deficit disorder Attention [rarediseases.info.nih.gov]

• Multiple Congenital Anomalies

  Parental attitudes toward a diagnosis in children with unidentified multiple congenital anomaly syndromes. Am J Med Genet. 2001;103:106–14. CAS Article Google Scholar 17. Reiff M, Bernhardt BA, Mulchandani S, Soucier D, Cornell D, Pyeritz RE, et al. [nature.com]

  The 16p11.2 microdeletion syndrome was first reported in association with multiple congenital anomalies in 2002 in a boy who died at 5 months of age due to cardiac failure. [hindawi.com]

• Delayed Speech Development

  Delayed speech development Impaired speech and language development Impaired speech development Language delay Language delayed Language development deficit Late-onset speech development Poor language development Speech and language delay Speech and [rarediseases.info.nih.gov]

• Regurgitation

  […] head circumference [ more ] 0000256 Malar flattening Zygomatic flattening 0000272 Seizure 0001250 5%-29% of people have these symptoms Anophthalmia Absence of eyeballs Failure of development of eyeball Missing eyeball No eyeball [ more ] 0000528 Aortic regurgitation [rarediseases.info.nih.gov]

• Strabismus

  Epicanthal folds and strabismus (n = 4, freq = 9.3%) were also common ocular findings. [hindawi.com]

  […] hypotonia Low or weak muscle tone 0001252 Myopia Close sighted Near sighted Near sightedness Nearsightedness [ more ] 0000545 Obesity Having too much body fat 0001513 Optic nerve coloboma 0000588 Psychosis 0000709 Pyloric stenosis 0002021 Scoliosis 0002650 Strabismus [rarediseases.info.nih.gov]

• Low Set Ears

  Some affected individuals have minor physical abnormalities such as low-set ears or partially webbed toes (partial syndactyly). People with this disorder are also at increased risk of obesity compared with the general population. [encyclopedia.pub]

  Minor physical differences such as low-set ears or partially webbed toes. Malformation of the spine. Increased risk of obesity compared with the general population; increased risk of seizures and minor heart defects. [gardn.org.au]

• Hypertelorism

  This was followed by both ptosis and hypertelorism (n = 8, freq = 18.6%) (Table 2). Epicanthal folds and strabismus (n = 4, freq = 9.3%) were also common ocular findings. [hindawi.com]

  […] hernia 0000776 Feeding difficulties Feeding problems Poor feeding [ more ] 0011968 Gastroesophageal reflux Acid reflux Acid reflux disease Heartburn [ more ] 0002020 Hand polydactyly Extra finger 0001161 Hemivertebrae Missing part of vertebrae 0002937 Hypertelorism [rarediseases.info.nih.gov]

• Language Delays

  Delayed speech development Impaired speech and language development Impaired speech development Language delay Language delayed Language development deficit Late-onset speech development Poor language development Speech and language delay Speech and [rarediseases.info.nih.gov]

• Global Developmental Delay

  Kang et al., “Recurrent reciprocal 16p11.2 rearrangements associated with global developmental delay, behavioural problems, dysmorphism, epilepsy, and abnormal head size,” Journal of Medical Genetics, vol. 47, no. 5, pp. 332–341, 2010. [hindawi.com]

  Showing of 37 | Medical Terms Other Names Learn More: HPO ID 80%-99% of people have these symptoms Global developmental delay 0001263 Intellectual disability Mental deficiency Mental retardation Mental retardation, nonspecific Mental-retardation [ more [rarediseases.info.nih.gov]

• Delayed Speech and Language Development

  Delayed speech development Impaired speech and language development Impaired speech development Language delay Language delayed Language development deficit Late-onset speech development Poor language development Speech and language delay Speech and [rarediseases.info.nih.gov]

Treatment and Management The treatment of 16p11.2 deletion syndrome is based on the signs and symptoms present. [gardn.org.au]

Conclusion The role of nursing, interprofessional collaboration, and access to consultation teams play a crucial role in patient care for early diagnosis and treatment. [onlinelibrary.wiley.com]

Treatment of 16p11.2 deletion NPCs and OPCs with an anti-CD47 antibody to block CD47 restores phagocytosis to control levels. [pnas.org]

Treatment Treatment with testosterone in a dosage of 125 mg each 4 weeks, hydrocortisone 10 mg at wake time and 5 mg in the afternoon and desmopressin 0.06 mg/day was started. [edm.bioscientifica.com]

You may also want to contact a university or tertiary medical center in your area, because these centers tend to see more complex cases and have the latest technology and treatments. [rarediseases.info.nih.gov]

Last updated: 9/22/2014 Prognosis Prognosis We are not aware of long-term follow-up data for people with 16p11.2 deletion syndrome. [rarediseases.info.nih.gov]

It is one of the most common known genetic etiologies of autism spectrum disorders (ASD) (∼0.5%) [2, 3, 4, 5, 6]. [sciencedirect.com]

He complained of significant weight gain in the last 10 years and was medicated with 50 µg/day of levothyroxine for hypothyroidism without a defined etiology. [edm.bioscientifica.com]

Neocortical neurogenesis and the etiology of autism spectrum disorder. Neurosci Biobehav Rev. 2016; 64:185–195 Pucilowska J, Vithayathil J, Tavares EJ, Kelly C, Karlo JC, Landreth GE. [journals.lww.com]

The dashed lines represent the 3rd and 97th Center for Disease Control and Prevention (CDC) centile, while the dotted lines pinpoint the thresholds for underweight (BMI=18.5), obesity (30), and morbid obesity (40). [jmg.bmj.com]