Simpson–Golabi–Behmel syndrome (SGBS), also known as Bulldog syndrome, Sara Agers syndrome, Golabi–Rosen syndrome, Simpson dysmorphia syndrome (SDYS) or X-linked dysplasia gigantism syndrome (DGSX), refers to an infrequent hereditary congenital condition that result in craniofacial, cardiac, renal and skeletal abnormalities. This condition involves X-linked multiple congenital defects characterized by prenatal and postnatal overgrowth, craniofacial features, malformations, increased risks of tumor and organomegaly.
There are many hospitals in the United States where patients suffering from this condition together with their loved ones can get treatments. However, travel in needed to access these facilities. Due to the fact that insurance plans cover medical treatments but not travel expenses, patients need to plan well so that the cost of travel is put at the minimum.
If you have already identified a healthcare facility for Simpson-Golabi Behmel Syndrome treatment, consultation or second opinion, you should go ahead and plan for your travel. Otherwise, you can check our list of healthcare facilities that provide specialist treatments of the condition in the country.
In case you are unable to meet travel expenses on your own, you can check our directory of charitable organizations that help in arranging cost-free travel for medical treatments.
About Simpson-Golabi Behmel Syndrome
SGBS shows a large clinical representation with different magnitudes of severity. Patients suffering from this syndrome experience the following;
- “Bulldog” or “coarse” face (protruding jaw and tongue, widened nasal bridge, upturned nasal tip)
- Advanced bone age
- Brain malformations
- Congenital diaphragmatic hernia (CDH)
- Cutaneous syndic
- Developmental disabilities
- Hands and feet are short and broad with dysplatic nails
- Mental retardation- can be inexistent or mild to severe
- Multicystic dysplastic kidneys
- Neonatal hypoglycemia
- Pectus excavatum
- Structural and conductive cardiac defects
- Supernumerary nipples
- Vertebral sementation defects
Not all causes of the condition have been identified. However, one cause of the syndrome (SGBS type I) is a mutation of the glypica-3 gene on the X chromosome locus q26.1. SGBS type II may be caused by the duplication of GPC 4 gene, a gene responsible for the regulation of cell division and growth.
Where to Go for Simpson-Golabi Behmel Syndrome Treatment
There are many healthcare facilities in the United States where patients and their loved ones seeking treatment and management of Simpson-Golabi Behmel Syndrome can go. These facilities have proper equipments, latest technologies, competent doctors and support staff and medications that allow them offer comprehensive medical care to patients and their families. Among the best of these hospitals include;
- Children’s Hospital Colorado
The hospital’s Clinical Genetics and Inherited Metabolic Diseases Program provide diagnosis, treatment, management and genetic counseling for children with known and suspected inherited diseases. Professionals in this facility evaluate, diagnose and help treat patients and families affected by sporadic and inherited genetic disorders, birth defects, or developmental delays.
Treatment of Simpson-Golabi Behmel Syndrome
In order to determine proper medical intervention for this syndrome, a proper diagnosis ir required first. The doctor may perform the following tests, procedures and screening;
- Array comparative genomic hybridization (aCGH) analysis of genomic imbalance in Xp22 or Xq26
- Clinical findings
- Family history
- Genetic testing for GPC3, GPC4 and CXORF5 mutations
- Imaging techniques help to detect skeletal anomalies and central nervous system involvement.
- Renal function is monitored in cases of renal involvement
- Screening of embryonic tumors is performed by imaging (serial abdominal ultrasonogram and chest X rays),
- Serial measurement of tumor markers and catecholamine metabolites in urine.
First symptoms of SGBS may be manifested as early as 16 weeks of gestation. Markers may include the presence of the following;
- Congenital diaphragmatic hernia
- Craniofacial abnormalities
- Cystic hygroma
- Elevated maternal serum-α-fetoprotein
- Hydrops fetalis
- Increased nuchal translucency
- Renal abnormalities
- Single umbilical artery
Genetic analysis of both the child and the parents is also important in the process of diagnosing this condition. It is also advisable to perform examinations in order to detect early embryonic tumors to prevent male deaths during neonatal stage.
Since the Simpson-Golabi Behmel Syndrome is caused by genetic mutations in the patient’s DNA, the cure for this condition is unavailable. Treatment options for the condition are therefore aimed at the management of the syndrome. Depending on the condition’s manifestation, there are several medical interventions that can be used for the management of the condition. Some of these include the following;
- Increased intake of glucose
- Occupational therapy
- Physical therapy
- Special education
- Speech therapy
Risks Associated with Simpson-Golabi Behmel Syndrome
The risks associated with Simpson-Golabi Behmel Syndrome may include the following;
- Family history. Having a family history of SGBS increases the chances of getting the condition. Having a mother with a mutated copy of the GPC3 gene.
- Being male. Males are more susceptible to the condition than females
- Being a female with a mutation in the GPC3 gene (note that even a single copy of the defective gene can lead to SGBS symptoms)
Who Can Go for Simpson-Golabi Behmel Syndrome Diagnosis and Treatment
It is good to have routine medical checkups regularly. However, individuals suffering showing symptoms of SGBS should seek medical intervention so that they may be treated for the condition. People with a family history of SGBS should be genetically examined and proper advice given. Those seeking to have babies should go for genetic counseling way before contemplating on getting pregnant. Pregnant mothers should ensure that they have followed prenatal and postnatal medical advice from the doctor.