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Simpson-Golabi-Behmel syndrome type 2

Disease definition

Simpson-Golabi-Behmel syndrome (SGBS) type 2 is an extremely rare and severe, early-lethal form of SGBS, an overgrowth-multiple anomalies syndrome, characterized by hydrops fetalis, macrocephaly, facial dysmorphism (hypertelorism, low-set, posteriorly angulated ears, short and broad nose with anteverted nares, prominent philtrum, large mouth with thin upper vermilion border, high-arched and cleft palate), short neck, redundant skin, skeletal defects (involving upper and lower limbs), hypoplastic nails, gastrointestinal and genitourinary anomalies, hypotonia and neurologic impairment. Severe intellectual disability, obesity and infections (pneumonia, sepsis) have been reported.

ORPHA:79022

  • Synonym(s):
    • Lethal variant of Simpson-Golabi-Behmel syndrome
    • SGBS2
  • Prevalence: <1 / 1 000 000
  • Inheritance: X-linked recessive 
  • Age of onset: Antenatal, Neonatal
  • ICD-10: Q87.3
  • OMIM: 300209
  • UMLS: C1846175
  • MeSH: -
  • GARD: -
  • MedDRA: -
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