Simpson-Golabi-Behmel syndrome, Type 1 (SGBS1)

What is Simpson-Golabi-Behmel syndrome, Type 1?

It is a rare genetic syndrome that affects multiple parts of the body. The syndrome occurs mainly in males due to its mode of inheritance. The syndrome is an overgrowth syndrome, meaning it triggers excessive growth both before birth and after.

This syndrome is also known as: SGBS; Dysplasia Gigantism Syndrome, X-Linked; Golabi-Rosen syndrome; Simpson dysmorphia syndrome.

What gene changes cause Simpson-Golabi-Behmel syndrome, Type 1?

Changes to the GPC3 gene are responsible for causing the syndrome.

It is an X-linked syndrome meaning that the mutated gene responsible for causing the syndrome is located on the X chromosome. This is why the syndrome is more common and severe in males, who have just one X chromosome. Females, with two x chromosomes, receive just one copy of the altered gene and are thus less likely to be affected.

What are the main symptoms of Simpson-Golabi-Behmel syndrome, Type 1?

  • Overgrowth is the main symptom of this rare disease. But the syndrome also presents with unique facial features including widely spaced eyes, a large mouth and tongue, a broad nose, and anomalies with the palate of the mouth. Another name for these facial features is coarse features.
  • The syndrome also affects the chest and abdomen. Some individuals are born with extra nipples, an opening in the muscle that covers the abdomen, and one of several types of hernias.
  • Other health conditions associated with the syndrome include heart defects, larger than average kidneys, enlarged liver and spleen, and abnormalities relating to the skeletal system.
  • In some cases, individuals develop either cancerous or non-cancerous tumors. Specifically Wilms tumor, which is a rare type of kidney cancer.

Possible clinical traits/features:
Arrhythmia, 2-3 finger syndactyly, Abnormal form of the vertebral bodies, Tall stature, Intestinal malrotation, Inguinal hernia, Low-set, posteriorly rotated ears, Macroglossia, Lung segmentation defects, Pancreatic islet-cell hyperplasia, Short nose, Neurological speech impairment, Anteverted nares, Narrow sacroiliac notch, Short greater sciatic notch, Nephroblastoma, Neuroblastoma, Mandibular prognathia, Meckel diverticulum, Pectus excavatum, Multicystic kidney dysplasia, Preauricular pit, Muscular hypotonia, Toe syndactyly, Patent ductus arteriosus, Preauricular skin tag, Omphalocele, Polysplenia, Postaxial hand polydactyly, Wide mouth, Webbed neck, Short neck, Renal cyst, Seizure, Abnormality of the helix, Abnormal fingernail morphology, Accelerated skeletal maturation, Aplasia/Hypoplasia of the corpus callosum, Aplasia/Hypoplasia of the abdominal wall musculature, Wide nasal bridge, Broad foot, Cardiomyopathy, Broad toe, Broad thumb, Broad secondary alveolar ridge, Broad palm, Polyhydramnios, Cerebellar vermis hypoplasia.

How is Simpson-Golabi-Behmel syndrome, Type 1 diagnosed?

To find out if someone has a diagnosis of Simpson-Golabi-Behmel syndrome, Type 1, it is important to have a consultation and evaluation with a clinical genetic specialist.  Specialists may also suggest specific genetic testing or other types of tests to help reach a diagnosis.  FDNA’s AI technology can help speed up the diagnostic process by analyzing facial features and other health information.

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