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

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

Simpson-Golabi-Behmel syndrome, Type 1 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.
  • The syndrome is also linked to various health issues, including heart defects, enlarged kidneys, an oversized liver and spleen, and skeletal system abnormalities.
  • 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 it 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.

Share this syndrome

Share this syndrome

Other childhood syndromes

More syndromes

Syndromes & Disorders

Weiss-Kruszka syndrome (WSKA)

It is a multiple congenital anomaly syndrome that has been recently identified. There are just 24 potential cases currently reported worldwide. It is also known as Weiss-Kruska syndrome. The gene responsible for the disorder is the ZNF462 gene.

Read more
Syndromes & Disorders

Yunis-Varon syndrome (YVS)

It is a rare genetic disease that affects multiple systems of the body. Its main symptoms affect the skeletal and nervous systems, as well as ectodermal tissue (hair and teeth). Since 1980 just 25 cases from 19 families have been diagnosed and recorded. This syndrome is also known as: Cleidocranial Dysplasia With Micrognathia, Absent Thumbs, And Distal Aphalangia

Read more
Syndromes & Disorders

Xia-Gibbs syndrome (XIGIS)

It is a rare genetic syndrome associated mainly with intellectual disability. This syndrome is also known as: Mental Retardation, Autosomal Dominant 25; Mrd25 Changes in the AHDC1 gene are responsible for causing the syndrome. It is inherited in an autosomal dominant pattern, although all cases of the syndrome recorded so far have been the result of de novo or new mutations in the gene. In the case of autosomal dominant inheritance just one parent is the carrier of the gene mutation, and they have a 50% chance of passing it onto each of their children. Syndromes inherited in an autosomal dominant inheritance are caused by just one copy of the gene mutation. In some cases, a genetic syndrome may be the result of a de-novo mutation and the first case in a family. In this case, this is a new gene mutation which occurs during the reproductive process.

Read more