Cardinal Symptoms They are present in ≥ 90% of persons with Sotos syndrome. Characteristic facies While already present at birth, they are most prominent between 1 and 6 years of age. [krebs-praedisposition.de]

Advanced bone age may be present in 76 to 86% of the patients and is helpful but not specific. Brain abnormalities are present in 60 to 80% of patients, such as communicating hydrocephalous, and others, but are not diagnostic and are non-specific. [rarediseases.org]

Here, we present a case of neonatal Sotos syndrome diagnosed and followed up at Children’s Hospital affiliated to Zhejiang University School of Medicine (Hangzhou, China) in November 2021. 2. Case Presentation 2.1. [mdpi.com]

There was no similar presentation of this syndrome in his family and his parents were nonconsanguineous. Patient's family pedigree is shown in Figure 2. [journals.lww.com]

A clinical diagnosis of Sotos Syndrome may be gained by the presentation of the typical symptoms: Characteristic facial appearance Learning disability Childhood overgrowth Increased head circumference This suspected diagnosis can be confirmed through [childgrowthfoundation.org]

• Hoarseness

  Neonatally, he showed hypoglycaemia, hypotonia, a hoarse cry, and poor sucking requiring nasogastric tube feeding for 4 weeks. A systolic heart murmur was heard, which disappeared before 6 months of age. [jmg.bmj.com]

Treatment & Support Management of Sotos Syndrome is focussed on treatment of the individual symptoms as they occur overseen by an appropriate specialist. [childgrowthfoundation.org]

Currently, a specific treatment for Sotos syndrome is lacking, and symptomatic supportive treatment remains the main approach in clinical practice [14]. [mdpi.com]

Standard Therapies Treatment The treatment of Sotos syndrome is directed toward the specific symptoms that are apparent in each individual. Treatment may require the coordinated efforts of a team of specialists. [rarediseases.org]

[…] or hypopigmented skin, hypoplastic nails, hypodontia Genitals: cryptorchidism, hydrocele, hypospadias, phimosis Endocrinology: hypercalcemia, neonatal hypoglycemia Therapeutic Considerations In light of the large number of potential manifestations, treatment [krebs-praedisposition.de]

Treatments may include adaptations such as eating upright and elevating the head of the bed, medications and, in rare cases, surgery. Oral-motor treatment plan may be a part of the child's therapy program. [ojrd.biomedcentral.com]

Additionally, intervention should be performed as early as possible to improve the quality of life and prognosis. 4. [mdpi.com]

Outlook / Prognosis What can I expect if I have a child with Sotos syndrome? Sotos syndrome is a lifelong condition and there is no cure. [my.clevelandclinic.org]

Etiology Although most cases are sporadic, autosomal dominant inheritance has been reported in several cases [35, 36]. [ojrd.biomedcentral.com]

Epidemiology Sotos syndrome is probably one of the most common overgrowth conditions, after the Beckwith-Wiedemann syndrome. The exact birth prevalence remains unknown. Hundreds of cases are reported. [ojrd.biomedcentral.com]

Epidemiology of pervasive developmental disorders. Pediatric Research, 65(6), 591–598. Article PubMed Google Scholar Frazier, T. W., Ratliff, K. R., Gruber, C., Zhang, Y., Law, P. A., & Constantino, J. N. (2014). [link.springer.com]

Genetic changes involving the NSD1 gene prevent one copy of the gene from producing any functional protein. Research suggests that a reduced amount of NSD1 protein disrupts the normal activity of genes involved in growth and development. [medlineplus.gov]

Prevention How can I reduce my risk of having a child with Sotos syndrome? There is no way to prevent most cases of Sotos syndrome. It’s a rare condition caused by a genetic mutation that happens unexpectedly. [my.clevelandclinic.org]

It’s not clear what causes the mutation in the NSD1 gene or how to prevent it. Sotos syndrome can be diagnosed in babies and children. It’s not a normal part of the newborn screening process in hospitals, however. [healthline.com]