How rare is Simpson-Golabi-Behmel syndrome?

Simpson-Golabi-Behmel syndrome is classified as very rare. The estimated prevalence is approximately <1 in 1,000,000. Because rare disease data can be limited, actual numbers may differ from published estimates.

How is Simpson-Golabi-Behmel syndrome diagnosed?

Information about diagnosis is currently limited for this condition.

Are there treatments for Simpson-Golabi-Behmel syndrome?

Information about treatment is currently limited for this condition.

What are the potential complications of Simpson-Golabi-Behmel syndrome?

Simpson-Golabi-Behmel syndrome can lead to several complications, including an increased risk of tumors and variable congenital malformations. This means that individuals may face different health challenges depending on their specific symptoms. It's important for families to work closely with healthcare providers to monitor and manage these risks.

How does Simpson-Golabi-Behmel syndrome affect daily life for individuals?

Daily life for individuals with Simpson-Golabi-Behmel syndrome can vary widely due to the range of symptoms. Some may need extra support for physical activities or medical care due to larger organs or other health issues. Families often find it helpful to create a supportive environment that accommodates their loved one's unique needs.

What is the life expectancy for someone with Simpson-Golabi-Behmel syndrome?

Information about life expectancy for individuals with Simpson-Golabi-Behmel syndrome is currently limited. Because the syndrome can lead to various health challenges, it is essential for families to work with healthcare providers to understand their loved one's specific situation and needs. Regular check-ups can help manage any complications that may arise.

Are there any specialists recommended for managing Simpson-Golabi-Behmel syndrome?

While specific specialists are not mentioned, individuals with Simpson-Golabi-Behmel syndrome may benefit from a team of healthcare providers. This could include geneticists, pediatricians, and specialists who focus on the unique symptoms and complications associated with the syndrome. Collaborating with a healthcare team can help ensure comprehensive care and support.

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Simpson-Golabi-Behmel syndrome (DGSX) - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

Simpson-Golabi-Behmel syndrome

MONDO:0010731

Also known as:DGSXGolabi-Rosen syndromeSDYS

Overview

Simpson-Golabi-Behmel syndrome is a rare X-linked multiple congenital anomalies syndrome, characterized by pre- and postnatal overgrowth, distinctive craniofacial features, variable congenital malformations, organomegaly and an increased tumor risk.

OnsetANTENATAL, CONGENITAL

Clinical Presentation

Built from Human Phenotype Ontology (HPO) phenotype annotations and GeneReviews clinical descriptions. Features represent findings documented across known cases — not an exhaustive list of possible symptoms.

Features include very common findings: Multicystic kidney dysplasia, Cryptorchidism, Tall stature, and Wide mouth and others; and common findings: Inguinal hernia, Hydroureter, Ureteral duplication, and Hydronephrosis and others. 78 total HPO annotations.

Organ System	Phenotype Count	Example Features
Arms and legs	9	Postaxial hand polydactyly, Broad foot, Short foot

Diagnosis

Drawn from GeneReviews diagnostic guidelines, newborn screening panel status (RUSP), and ClinGen gene-disease validity classifications. Reflects current clinical evidence and consensus where available.

GeneReviews

Diagnostic Criteria

For the purposes of this GeneReview, the terms "male" and "female" are narrowly defined as the individual's biological sex at birth as it determines clinical care . Consensus clinical diagnostic criteria for Simpson-Golabi-Behmel syndrome type 1 (SGBS1) have not been established.

Suggestive Findings

SGBS1 should be suspected in probands with the following clinical findings and family history.

Clinical findings

• Linear somatic overgrowth

Treatment

Compiled from FDA-approved drug records, orphan drug designations, and FDA Adverse Event Reporting System (FAERS) safety data. GeneReviews management guidance is included where available.

No approved treatments are currently available for Simpson-Golabi-Behmel syndrome. The disease remains an area of unmet medical need.

GeneReviews

Management Guidelines

No clinical practice guidelines for Simpson-Golabi-Behmel syndrome type 1 (SGBS1) have been published. In the absence of published guidelines, the following recommendations are based on the authors' personal experience managing individuals with this disorder.

Evaluations Following Initial Diagnosis

To establish the extent of disease and needs in an individual diagnosed with SGBS1, the evaluations summarized (if not performed as part of the evaluation that led to the diagnosis) are recommended.

Prognosis

Based on GeneReviews surveillance recommendations, HPO phenotype frequency and severity annotations, and published prevalence estimates from Orphanet and OMIM.

GeneReviews

Surveillance Guidelines

To monitor existing manifestations, the individual's response to supportive care, and the emergence of new manifestations, the evaluations summarized in are recommended. Table 6. Simpson-Golabi-Behmel Syndrome Type 1: Recommended Surveillance for Males

Research Landscape

Sourced from ClinicalTrials.gov and PubMed. Publication types are classified using NLM-curated article metadata; research type breakdowns reflect the nature of published work for this disease.

No clinical trials have been registered for Simpson-Golabi-Behmel syndrome.

27 publications have been identified in PubMed for Simpson-Golabi-Behmel syndrome. Research spans Basic Science / Preclinical (48%), Review / Meta-Analysis (19%), and Case Report / Case Series (19%).

Research Type	Count	% of Total
Laboratory research	13	48%

Data assembled from 5 of 12 sources · Last updated Sep 19, 2026, 6:55 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

Orphanet

European rare disease database

Orphanet:373

GARD

Genetic and Rare Diseases Info Center

GARD:7649

Questions for Your Care Team

→Are there specialists or centers of excellence for this condition in my area?
→Is there a patient registry I should consider joining?

FAQ

Frequently Asked Questions

Common questions about Simpson-Golabi-Behmel syndrome

Simpson-Golabi-Behmel syndrome is a rare condition that affects many parts of the body. It is described as an X-linked multiple congenital anomalies syndrome. This means that the syndrome is linked to the X chromosome, and it often leads to unusual growth patterns before and after birth. People with this condition may be larger than expected and have a range of physical characteristics that set them apart. In addition to overgrowth, the syndrome is known for distinctive craniofacial features, variable congenital malformations, and organomegaly, which means that one or more organs can be larger than normal. There is also an increased risk of tumors. The syndrome is recognized by several names, including DGSX, Golabi-Rosen syndrome, SDYS, SGB syndrome, SGBS, and Sara Angers syndrome, among others.

People with Simpson-Golabi-Behmel syndrome show signs such as pre- and postnatal overgrowth and unique craniofacial features. They may have variable congenital malformations, which means that the changes in their body can differ from one person to another. Some individuals also have larger than normal organs (organomegaly) and an increased risk of developing tumors.

Simpson-Golabi-Behmel syndrome follows an X-linked pattern, meaning the condition is linked to changes on the X chromosome. The specific genetic details are not described in the provided sources. Information about the exact genetic variations and risk factors is currently limited for this condition. Associated genes include GPC3, OFD1.

← Back to All Diseases

GeneReviews

Clinical Guidance

Males and females can present similarly with Simpson-Golabi-Behmel syndrome type 1 (SGBS1). However, there is skewing of males to females in a 9:1 ratio. Individuals of both sexes present with overgrowth, characteristic facial features, skeletal abnormalities, and genitourinary dysfunction. Males often present with cryptorchidism. Females are less likely to present with significant manifestations of SGBS1, potentially due to skewed X-chromosome inactivation. There have not been extensive studies of sex differences in SGBS1 due to the small number of females reported to date and mildly affected or unaffected female carriers who do not present until they have an affected son. Affected Males SGBS1 is characterized by pre- and postnatal overgrowth, distinctive facies, and variable visceral, skeletal, and neurodevelopmental abnormalities. To date, more than 180 individuals have been identified with a pathogenic variant in GPC3 . The following description of the phenotypic features associated with this condition is based on these reports. Table 2. Simpson-Golabi-Behmel Syndrome Type 1: Frequency of Select Features

System	Feature	% of Persons w/Feature
Overgrowth	Overgrowth (linear growth ≥2 SD above mean for age sex)	89%
Facial features	Macroglossia	81% Macrostomia
Cardiac	Congenital heart disease	46%
Genitourinary	Renal dysplasia, nephromegaly, duplicated renal system	58% Cryptorchidism, hypospadias in males
Musculoskeletal	Scoliosis, hand foot anomalies (e.g., brachydactyly, cutaneous syndactyly, polydactyly)	59%
Neurodevelopmental	Intellectual disability	58%
Neoplasia	Hepatoblastoma Wilms tumor (most common)	10%
Other features	Supernumerary nipples	59% Diastasis recti, umbilical hernia

Source: GeneReviews — "Simpson-Golabi-Behmel Syndrome Type 1"

Kisho

Simpson-Golabi-Behmel syndrome

Overview

Clinical Presentation

Diagnosis

Diagnostic Criteria

Suggestive Findings

Treatment

Management Guidelines

Evaluations Following Initial Diagnosis

Prognosis

Surveillance Guidelines

Research Landscape

Medical References

External Resources

Orphanet

GARD

Questions for Your Care Team

Questions for Your Care Team

FAQ

Frequently Asked Questions

Clinical Guidance

Explore clinical features

Differential Diagnosis

Oropharynx

Ears/Hearing

Cardiac

Respiratory

Renal

Abdomen/Pelvis

Musculoskeletal

Therapies Under Investigation

Clinical Trials

Recent Publications

Simpson-Golabi-Behmel syndrome

Overview

Clinical Presentation

Diagnosis

Diagnostic Criteria

Suggestive Findings

Treatment

Management Guidelines

Evaluations Following Initial Diagnosis

Prognosis

Surveillance Guidelines

Research Landscape

Medical References

External Resources

Orphanet

GARD

Subtypes

Related Diseases

Questions for Your Care Team

Questions for Your Care Team

FAQ

Frequently Asked Questions

What is Simpson-Golabi-Behmel syndrome?

What are the symptoms of Simpson-Golabi-Behmel syndrome?

What causes Simpson-Golabi-Behmel syndrome?

How rare is Simpson-Golabi-Behmel syndrome?

How is Simpson-Golabi-Behmel syndrome diagnosed?

Are there treatments for Simpson-Golabi-Behmel syndrome?

What are the potential complications of Simpson-Golabi-Behmel syndrome?

How does Simpson-Golabi-Behmel syndrome affect daily life for individuals?

What is the life expectancy for someone with Simpson-Golabi-Behmel syndrome?

Are there any specialists recommended for managing Simpson-Golabi-Behmel syndrome?

Clinical Guidance

Explore clinical features

Differential Diagnosis

Oropharynx

Ears/Hearing

Cardiac

Respiratory

Renal

Abdomen/Pelvis

Musculoskeletal

Therapies Under Investigation

Clinical Trials

Recent Publications