Simpson-Golabi-Behmel (SGB) Syndrome Type 2 is a rare X-linked condition with macrosomia.


Chromosome: X

Location: Xp22 (SGB Type 1 maps to Xq26.2)

Genes affected: uncertain, possible CXORF5


Inheritance: X-linked


Clinical features:

(1) macrosomia

(2) hydrops fetalis

(3) macrocephaly

(4) craniofacial anomalies

(5) macroglossia

(6) jaundice

(7) brisk deep tendon reflexes and/or hypotonia

(8) seizures

(9) multiple congenital anomalies

(10) skeletal defects affecting limbs


Death occurs during infancy so there may not be time to develop malignant tumors.


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