Sotos Syndrome

The three cardinal features of Sotos syndrome include a characteristic facial gestalt, learning difficulties, and macrocephaly, and greater than 90% of patients are noted to have all three features (Tatton-Brown and Rahman 2004). The characteristic facial gestalt is most recognizable between the ages of one and six and consists of a long, thin face with down-slanting palpebral fissures, a broad forehead, malar flushing, and fronto-temporal hair sparsity. Learning disabilities are present in 97% of individuals with Sotos syndrome, but the extent of impairment is largely variable (Tatton-Brown et al., 2005). Approximately 90% of individuals with Sotos syndrome have height and/or head circumference at least 2 standard deviations above the mean in childhood. Other major features present in more than 15% of patients include advanced bone age, cardiac anomalies, cranial magnetic resonance imaging or CT abnormalities, hyperlaxity, maternal pre-eclampsia, neonatal hypotonia, neonatal jaundice, neonatal poor feeding, renal anomalies, scoliosis, and seizures. As with other overgrowth syndromes, there is an increased risk for tumors in Sotos syndrome. The risk is estimated to be 2-3% and includes embryonal tumors such as Wilms tumor, neuroblastoma, and hepatocellular carcinoma, as well as other benign and malignant tumors including leukemia, lymphoma, and saccrococcygeal teratoma (Lapunzina 2005). In previous studies, Sotos syndrome has demonstrated complete penetrance, as all individuals with Sotos syndrome exhibit at least some characteristics of the disorder.

Tests Available

Forms and Documents

Test Details

NSD1
  • Confirmation of a clinical diagnosis
  • Prenatal diagnosis in at-risk pregnancies
  • Capillary Sequencing
  • Deletion/Duplication Analysis

Ordering

406
4 weeks
2-5 mL Blood - Lavender Top Tube
Oral Rinse (30-40 mL) | Buccal Swabs

Billing

81405x1, 81406x1
No
Yes
  • 766.1 Other "heavy-for-dates" infants, Other fetus or infant "heavy-" or "large-for-dates" regardless of period of gestation
  • 759.89 Other Congenital malformation syndromes affecting multiple systems
  • 319 Unspecified mental retardation, Mental deficiency NOS, Mental subnormality NOS
* For price inquiries please email zebras@genedx.com

References

  1. Tatton-Brown and Rahman (2004) Clin Dysmorphol 13: 199-204
  2. Tatton-Brown et al., (2005) Am J Hum Genet 77: 193-204
  3. Lapunzina (2005) Am J Med Genet C 137C:53-71
  4. Baujat and Cormier-Daire (2007) Orph J Rare Dis 2:36
  5. Kurotaki et al., (2003) Hum Mutat 22:378-87
  6. Visser et al., (2005) J Med Genet 42e
  7. Waggoner et al., (2005) Genet Med 7: 524-33
  8. Saugier-Veber et al., (2007) Hum Mutat 28(11):1098-1107
  9. Douglas et al., (2005) J Med Genet 42:e56
  10. Rio et al., (2003) J Med Genet 40:436-440
  11. Cecconi et al., (2005) Am J Med Genet 134A:247-253
  12. Turkmen et al., (2003) Am J Med Genet 137C:24-31

Forms and Documents

Test Details

AKT3, BRWD3, CCND2, CHD8, CUL4B, DNMT3A, EZH2, GLI3, GPC3, HEPACAM, HERC1, MED12, MTOR, NFIA, NFIX, NSD1, OFD1, PHF6, PIK3CA, PIK3R2, PPP2R5D, PTCH1, PTEN, RAB39B, RNF135, SETD2, SNX14, TBC1D7, UPF3B
  • Molecular confirmation of a clinical diagnosis
  • Identification of at-risk family members
  • Assist with treatment/ management decisions
  • Recurrence risk assessment
  • Next-Gen Sequencing
  • Deletion/Duplication Analysis

Ordering

699
4 weeks
2-5 mL Blood - Lavender Top Tube
Oral Rinse (30-40 mL) | Buccal Swabs

Billing

81321x1, 81323x1, 81401x1, 81405x1, 81406x1
No
Yes
* For price inquiries please email zebras@genedx.com