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Simpson-Golabi-Behmel syndrome type 1
ICD-10 Codes
Related ICD-10:
Description
Simpson-Golabi-Behmel syndrome type 1 (SGBS1) is a rare X-linked disorder characterized by several distinct features.
Key Features:
- Pre- and postnatal overgrowth: Individuals with SGBS1 are often larger than expected, both before and after birth [2][4].
- Distinctive craniofacial features: The facial features of those affected may appear coarse, particularly in older children and adults [8][9].
- Macrocephaly: Some individuals with SGBS1 may have an unusually large head size [7].
- Developmental delay: Developmental delays or intellectual disabilities may be present in some cases [5][7].
Other Associated Features:
- Congenital heart defects
- Coarse facies (in older children and adults)
- Macrocephaly
It's essential to note that the severity and presentation of SGBS1 can vary significantly among affected individuals.
Additional Characteristics
- Macrocephaly
- Developmental delay
- Pre- and postnatal overgrowth
- Distinctive craniofacial features
Signs and Symptoms
Simpson-Golabi-Behmel syndrome type 1 (SGBS1) is a rare genetic disorder characterized by several distinct signs and symptoms.
Physical Characteristics:
- Overgrowth: Individuals with SGBS1 often exhibit overgrowth, which can be seen in macrosomia (excessive birth weight), macrocephaly (larger-than-average head size), and organomegaly (enlarged organs) [1][2].
- Distinctive Craniofacial Features: The syndrome is characterized by a unique set of craniofacial features, including frontal bossing, hypertelorism (increased distance between the eyes), broad nose, and digital abnormalities [2][3].
Other Symptoms:
- Heart Defects: SGBS1 can cause various heart defects, such as congenital diaphragmatic hernia, polydactyly (extra fingers or toes), pectus excavatum (sunken chest), and supernumerary nipples [4].
- Developmental Delay: Individuals with this condition may experience developmental delay, which can manifest in different ways depending on the individual [5][6].
Additional Complications:
- Gastrointestinal System Abnormalities: SGBS1 can affect the development of the gastrointestinal system, leading to various complications [7].
- Urinary System and Genitalia Abnormalities: The syndrome can also impact the urinary system and genitalia, resulting in mild or severe abnormalities [8].
It's essential to note that each individual with SGBS1 may exhibit a unique combination of these signs and symptoms. If you're looking for more information on this topic, I'd be happy to help.
References:
[1] Aug 7, 2020 - In SGBS type 1, one of the main features is overgrowth, which is when an individual is larger than expected. [2] Dec 19, 2006 - Common phenotypes are macrocephaly, frontal bossing, hypertelorism, broad nose, and digital abnormalities. [3] A rare X-linked multiple congenital anomalies syndrome characterized by pre- and postnatal overgrowth, distinctive craniofacial features, variable congenital... [4] Jul 1, 2017 - Simpson-Golabi-Behmel syndrome can also cause heart defects, malformed or abnormally large kidneys, an enlarged liver and spleen (... [5] Simpson-Golabi-Behmel syndrome type 1 (SGBS1) is characterized by pre- and postnatal macrosomia; distinctive craniofacial features. [6] Simpson-Golabi-Behmel syndrome type 1 (SGBS1) is a rare X-linked disorder, characterised by pre/postnatal overgrowth, developmental delay, macrocephaly,... [7] by J Tenorio · 2014 · Cited by 98 — The most consistent findings in SGBS are pre- and postnatal overgrowth, characteristic facial anomalies and abnormalities affecting the internal... [8] Additionally, the syndrome can affect the development of the gastrointestinal system, urinary system, and genitalia. Some people with this condition have mild...
Additional Symptoms
- Overgrowth
- developmental delay
- polydactyly (extra fingers or toes)
- macrosomia (excessive birth weight)
- macrocephaly (larger-than-average head size)
- organomegaly (enlarged organs)
- frontal bossing
- hypertelorism (increased distance between the eyes)
- broad nose
- digital abnormalities
- heart defects
- congenital diaphragmatic hernia
- pectus excavatum (sunken chest)
- supernumerary nipples
- gastrointestinal system abnormalities
- urinary system and genitalia abnormalities
Diagnostic Tests
Simpson-Golabi-Behmel syndrome type 1 (SGBS1) is a rare genetic disorder that can be diagnosed through various diagnostic tests.
Genetic Testing The diagnosis of SGBS1 is established by detecting a pathogenic variant in the GPC3 gene, which encodes for Glypican 3. Sequence analysis of GPC3 is performed to detect missense, nonsense, splice site variants, and small intragenic deletions or duplications [1]. This test can be done on blood samples from affected individuals.
Imaging Studies Imaging studies are also essential in the diagnosis of SGBS1. These include:
- Abdominal ultrasonogram: To detect embryonic tumors and assess organomegaly [4].
- Chest X-rays: To evaluate for mediastinal masses or other abnormalities [4].
- Serial measurement of tumor markers: To monitor for the presence of embryonic tumors [4].
Other Diagnostic Tests In addition to genetic testing and imaging studies, other diagnostic tests may be recommended. These include:
- Blood tests: To assess for anemia, thrombocytopenia, or other hematological abnormalities [6].
- Urine tests: To detect for the presence of tumor markers or other biochemical abnormalities [6].
Prenatal Diagnosis Prenatal diagnosis can also be performed through ultrasound and genetic testing. Macrosomia, polyhydramnios, organomegaly, renal anomalies, and other fetal abnormalities may be detected during prenatal ultrasounds [7].
It's essential to consult with a specialist or a genetic counselor for accurate diagnosis and management of SGBS1.
References: [1] Dec 19, 2006 — Single-gene testing. Sequence analysis of GPC3 is performed first to detect missense, nonsense, splice site variants and small intragenic ... [4] Screening for embryonic tumors is performed by imaging (serial abdominal ultrasonogram and chest X rays), serial measurement of tumor markers and catecholamine ... [6] Aug 7, 2020 — Diagnosis of SGBS type 1 is made based on ... Screening should include abdominal ultrasounds, blood tests, urine tests, and chest x-rays. [7] by HH Peng · 2023 · Cited by 3 — The main prenatal ultrasound findings that alert clinical doctors about the possible diagnosis of SGBS1 included macrosomia, polyhydramnios, organomegaly, renal ...
Additional Diagnostic Tests
- Blood tests
- Urine tests
- Chest X-rays
- Sequence analysis of GPC3
- Abdominal ultrasonogram
- Serial measurement of tumor markers
Treatment
Simpson-Golabi-Behmel syndrome type 1 (SGBS1) is a rare X-linked disorder that affects many parts of the body, primarily in males [3]. While there is no specific cure for SGBS1, various treatments can help manage its symptoms and complications.
Medical Management
The primary goal of treatment is to address the physical and developmental challenges associated with SGBS1. This may involve:
- Neurodevelopmental assessment: To determine the need for special education, occupational therapy, and/or physical therapy [4][9].
- Surveillance: Regular monitoring for potential complications, such as cardiac abnormalities, which can be life-threatening [5].
Surgical Interventions
In some cases, congenital malformations may require surgical correction. This is particularly true for cardiac abnormalities, which are a significant concern in SGBS1 patients [5].
Other Treatments
While there is no specific medication approved for the treatment of SGBS1, various therapies may be used to manage related conditions, such as:
- Growth hormone therapy: May be considered to address growth-related issues [7].
- Cardiac medications: To manage cardiac abnormalities and prevent complications.
- Pain management: To alleviate pain associated with skeletal or other physical abnormalities.
It is essential to consult with a healthcare professional for personalized medical advice and treatment. They can help develop a comprehensive care plan tailored to the individual's specific needs [8].
References:
[3] Jul 1, 2017 — Simpson-Golabi-Behmel syndrome is a condition that affects many parts of the body and occurs primarily in males. [4] Dec 19, 2006 — Neurodevelopmental assessment to determine the need for special education, occupational therapy, and/or physical therapy. Surveillance: ... [5] Congenital malformations may require surgery. Special attention should be paid to cardiac abnormalities that are responsible for the increased perinatal and ... [7] by J Tenorio · 2014 · Cited by 98 — Simpson-Golabi-Behmel syndrome (SGBS) is a rare overgrowth syndrome clinically characterized by multiple congenital abnormalities, pre/postnatal overgrowth. [8] Please consult with a healthcare professional for medical advice and treatment. Print. Disease Overview. Any Simpson-Golabi-Behmel syndrome in which the cause ... [9] by BJ Sajorda · 1993 · Cited by 29 — Neurodevelopmental assessment to determine the need for special education, occupational therapy, and/or physical therapy. Surveillance: ...
Recommended Medications
- Pain management
- Growth hormone therapy
- Cardiac medications
💊 Drug information is sourced from ChEBI (Chemical Entities of Biological Interest) database. Always consult with a healthcare professional before starting any medication. Click on any medication name for detailed information.
Differential Diagnosis
Simpson-Golabi-Behmel syndrome type 1 (SGBS1) is a rare genetic disorder characterized by pre- and postnatal overgrowth, coarse facial features, and other systemic abnormalities. When considering the differential diagnosis of SGBS1, several conditions should be taken into account.
- Overgrowth syndromes: Conditions such as Beckwith-Wiedemann syndrome (BWS), Sotos syndrome, and Perlman syndrome also present with pre- and postnatal overgrowth, making them potential differential diagnoses for SGBS1 [3][4].
- Facial dysmorphism syndromes: Syndromes like Noonan syndrome, Turner syndrome, and Trisomy 21 (Down syndrome) can exhibit coarse facial features similar to those seen in SGBS1 [7][8].
- Congenital heart defects: Conditions such as Hypoplastic Left Heart Syndrome (HLHS), Tetralogy of Fallot, and Ventricular Septal Defect (VSD) can co-occur with SGBS1, making them potential differential diagnoses [7].
It's essential to note that the diagnosis of SGBS1 is typically established through a combination of clinical findings, family history, and genetic testing for mutations in the GPC3 gene. A thorough evaluation by a multidisciplinary team of healthcare professionals, including pediatricians, geneticists, and specialists in medical genetics, is necessary to accurately diagnose and differentiate SGBS1 from other conditions.
References: [3] - Aug 7, 2020: One of the main features of SGBS type 1 is overgrowth, which is when an individual is larger than expected. [4] - Jul 1, 2017: This condition is classified as an overgrowth syndrome, which means that affected infants are considerably larger than normal at birth (macrosomia). [7] - Simpson-Golabi-Behmel syndrome is an X-linked condition characterized by pre- and postnatal overgrowth, coarse facies, congenital heart defects, and other systemic abnormalities. [8] - SGBS is a syndrome characterized by overgrowth, multiple congenital anomalies, and dysplasia and caused by an X-linked mutant gene.
Additional Differential Diagnoses
Additional Information
- relatedICD
- http://example.org/icd10/Q72.13
- core#notation
- DOID:0060248
- rdf-schema#label
- Simpson-Golabi-Behmel syndrome type 1
- rdf-schema#subClassOf
- t336477
- 22-rdf-syntax-ns#type
- http://www.w3.org/2002/07/owl#Class
- rdf-schema#domain
- https://w3id.org/def/predibionto#has_symptom_1274
- owl#annotatedSource
- t336797
- oboInOwl#hasOBONamespace
- disease_ontology
- oboInOwl#creation_date
- 2015-01-29T15:15:46Z
- oboInOwl#id
- DOID:0060248
- oboInOwl#created_by
- emitraka
- oboInOwl#hasDbXref
- UMLS_CUI:C0796154
- IAO_0000115
- A syndrome characterized by pre- and postnatal overgrowth and craniofacial, skeletal, cardiac and renal abnormalities and has_material_basis_in mutation in the gene encoding glypican-3 (GPC3) on chromosome Xq26.
- oboInOwl#hasExactSynonym
- X-linked dysplasia gigantism syndrome
- oboInOwl#inSubset
- http://purl.obolibrary.org/obo/doid#NCIthesaurus
- IDO_0000664
- http://purl.obolibrary.org/obo/GENO_0000149
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It is not intended to be a substitute for professional medical advice, diagnosis, or treatment. Always seek the advice of your physician or other qualified healthcare provider with questions about your medical condition.