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Simpson-Golabi-Behmel Syndrome (SGBS)

Simpson-Golabi-Behmel Syndrome (SGBS) is an X-linked disorder characterized by pre- and postnatal overgrowth and distinctive facial features. Macrosomia and macrocephaly are typically noted on prenatal ultrasound or at birth and continue throughout development. The facial features are described as “coarse” and may include hypertelorism, downslanting palpebral fissures, epicanthal folds, macrostomia, macroglossia, a wide nasal bridge, […]

Simpson-Golabi-Behmel Syndrome (SGBS) is an X-linked disorder characterized by pre- and postnatal overgrowth and distinctive facial features. Macrosomia and macrocephaly are typically noted on prenatal ultrasound or at birth and continue throughout development. The facial features are described as “coarse” and may include hypertelorism, downslanting palpebral fissures, epicanthal folds, macrostomia, macroglossia, a wide nasal bridge, ear pits or tags, and a central groove of lower lip and/or tongue. The risk for congenital anomalies is increased, including cleft lip/palate, congenital heart disease, diaphragmatic hernia, umbilical hernia, cystic hygroma, renal dysplasia, cryptorchidism, and hypospadias. Other common findings may include hypotonia, fingernail hypoplasia, interdigital webbing, polydactyly, supernumerary nipples, pectus excavatum, and skeletal anomalies. As with other overgrowth syndromes, hypoglycemia may occur in the neonatal period, and hepatomegaly has been described (Neri et al., 1998). The risk for embryonal tumors is increased but is not well established. Previous cases of Wilms tumor, hepatoblastoma, adrenal neuroblastoma, gonadoblastoma, and hepatocellular carcinoma have been published (Lapunzina 2005). Some individuals with SGBS have normal intelligence, while others exhibit mental retardation that may range from mild to severe. Even among individuals with normal intelligence, speech delay occurs frequently and may be secondary to macroglossia and malocclusion (Rodriguez-Criado et al., 2005).

Tests Available

GPC3 Gene Sequencing (Males)

FORMS AND DOCUMENTS

TEST DETAILS

Genes:
GPC3
Clinical Utility:
  • Confirmation of a clinical diagnosis
  • Carrier testing in individuals with a known familial GPC3 mutation
  • Prenatal diagnosis in at-risk pregnancies
Lab Method:
Capillary Sequencing

ORDERING

Test Code:
415
Turnaround Time:
4-5 weeks
Preferred Specimen:
2-5 mL Blood - Lavender Top Tube

BILLING

CPT Codes:
81479x1
New York Approved:
No
ABN Required:
Yes
Billing Information:
View Neurology Billing Policy
ICD Codes:
  • 319: Unspecified mental retardation, Mental deficiency NOS, Mental subnormality NOS
  • 750.15: Macroglossia Congenital hypertrophy of tongue
  • 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
  • 775.6: Neonatal hypoglycemia
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REFERENCES

  1. Lin, et al., (1999) Am. J. Hum. Genet. 83:378-381
  2. Lindsay, et al., (1997) J. Med. Genet. 34:480-483
  3. Hughes-Benzie, et al., (1996) Am. J. Hum. Genet. 66:227-234
  4. Sakazume, et al., (2007) Am. J. Med. Genet. 143A: 1703-1707
  5. Li, et al., (2001) Am. J. Hum. Genet. 102:161-168
  6. Veugelers, et al., (2000) Hum. Mol. Genet. 9:1321-1328
  7. Pilia et al., (1996) Nat Genet 12:241-247
  8. Rodriguez-Criado et al., (2005) Am J Med Genet A 138A:272-277
  9. Neri, et al., (1998) Am. J. Hum. Genet. 79:279-283
  10. Lapunzina (2005) Am J Med Genet C 137C:53-71

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