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Goldberg-Shprintzen syndrome
ICD-10 Codes
Related ICD-10:
Description
Goldberg-Shprintzen Syndrome: A Rare Connective Tissue Disorder
Goldberg-Shprintzen syndrome, also known as Shprintzen-Goldberg syndrome (SGS), is a rare and extremely complex connective tissue disorder. It is characterized by a combination of distinctive craniofacial differences, skeletal abnormalities, and intellectual disabilities.
Key Features:
- Craniofacial differences: Individuals with SGS often have a long, narrow head shape (dolichocephaly), high prominent forehead, widely spaced eyes (hypertelorism), and other facial anomalies.
- Skeletal abnormalities: Affected individuals may experience scoliosis, long flat feet, and long fingers, among other skeletal issues.
- Intellectual disabilities: SGS is often associated with intellectual disabilities, ranging from mild to severe.
Other Associated Features:
- Hirschsprung disease (a condition affecting the large intestine)
- Marfanoid habitus (a body type characterized by tall stature, long limbs, and a slender build)
Causes and Diagnosis: SGS is caused by mutations in the SKI gene. The diagnosis of SGS can be challenging due to its rarity and complexity.
References:
- [1] Shprintzen Goldberg syndrome (SGS) is an extremely rare connective tissue disorder characterized by craniofacial differences as well as skeletal and ... (Source 1)
- [2] Aug 23, 2022 — Shprintzen-Goldberg syndrome is a rare genetic disorder that can cause abnormal facial features, skeletal abnormalities and intellectual ... (Source 2)
- [3] May 1, 2016 — Affected individuals have a combination of distinctive facial features and skeletal and neurological abnormalities. (Source 3)
Additional Characteristics
- Intellectual disabilities
- Skeletal abnormalities
- Craniofacial differences
- Hirschsprung disease
- Marfanoid habitus
Signs and Symptoms
Goldberg-Shprintzen Syndrome (GSS) Signs and Symptoms
Goldberg-Shprintzen syndrome, also known as Shprintzen-Goldberg syndrome, is a rare genetic disorder characterized by distinctive facial features, skeletal abnormalities, and intellectual disability. The condition often presents with a combination of the following signs and symptoms:
- Facial Features: Individuals with GSS may have a tall, lanky body with increased joint mobility, scoliosis, long flat feet, and long fingers.
- Skeletal Abnormalities: Affected individuals may experience skeletal abnormalities, including maxillary hypoplasia, hypodontia (missing teeth), high arched palate, short neck, small hands, brachydactyly (short fingers), and fifth finger hypoplasia.
- Intellectual Disability: GSS is often associated with mild-to-moderate intellectual disability, delayed motor and cognitive milestones.
- Brain Anomalies: Individuals with GSS may have brain anomalies, including fluid build-up in the brain (hydrocephalus), dilation of the lateral ventricles, and Chiari malformation.
Additional Features
Some individuals with GSS may also experience additional features, such as:
- Craniosynostosis
- Craniofacial and skeletal abnormalities
- Marfanoid habitus
- Cardiac anomalies
- Neurological abnormalities
It's essential to note that the severity and presentation of GSS can vary significantly among affected individuals. A comprehensive medical evaluation by a qualified healthcare professional is necessary for an accurate diagnosis and treatment plan.
References:
[1] Aug 23, 2022 — The condition often causes abnormal facial features, skeletal abnormalities and intellectual disability. Being told that your child has SGS can ... [3] May 1, 2016 — Affected individuals have a combination of distinctive facial features and skeletal and neurological abnormalities. A common feature in people ... [7] Shprintzen-Goldberg syndrome (SGS) is characterized by: delayed motor and cognitive milestones and mild-to-moderate intellectual disability; ... [8] Goldberg-Shprintzen megacolon syndrome (GOSHS) is a very rare genetic condition characterized by a swollen, irritated colon (megacolon); characteristic facial ...
Additional Symptoms
- Maxillary hypoplasia
- Scoliosis
- Brachydactyly (short fingers)
- Short neck
- Long fingers
- Mild-to-moderate intellectual disability
- Tall, lanky body with increased joint mobility
- Long flat feet
- Hypodontia (missing teeth)
- High arched palate
- Small hands
- Fifth finger hypoplasia
- Delayed motor and cognitive milestones
- Fluid build-up in the brain (hydrocephalus)
- Dilation of the lateral ventricles
- Chiari malformation
Diagnostic Tests
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Additional Diagnostic Tests
- Blood tests
- Imaging studies
Treatment
Treatment Options for Goldberg-Shprintzen Syndrome
Goldberg-Shprintzen syndrome, also known as Shprintzen-Goldberg syndrome, is a rare genetic disorder that affects multiple systems in the body. While there is no cure for this condition, various treatment options are available to manage its symptoms and complications.
- Cardiovascular Complications: Individuals with Goldberg-Shprintzen syndrome may experience cardiovascular issues, such as aortic dilatation. In these cases, treatment with beta-adrenergic blockers or other medications can help reduce the risk of complications [5].
- Surgical Repair: Surgical intervention may be necessary to address specific symptoms, such as developmental delay (DD) and skeletal issues [3].
- Multidisciplinary Medical Care: A comprehensive treatment approach that involves a team of healthcare professionals, including cardiologists, ophthalmologists, urologists, and orthopedic specialists, can help manage the various aspects of Goldberg-Shprintzen syndrome [3].
While these treatment options can help alleviate symptoms and improve quality of life, it's essential to note that Goldberg-Shprintzen syndrome is a complex condition, and each individual may require a unique treatment plan.
References:
[1] Context result 5: Apr 9, 2020 — If aortic dilatation is present, treatment with beta-adrenergic blockers or other medications should be considered in order to reduce ... [2] Context result 3: Management and treatment. Multidisciplinary medical care and preventive actions, such as treatment of cardiac, ocular, urogenital and skeletal issues and ... [3] Context result 9: Management or Treatment Although Goldberg-Shprintzen syndrome cannot be cured, some of its symptoms can be managed. Cardiovascular complications present the ...
Recommended Medications
- beta-adrenergic blockers
- other 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
Differential Diagnoses for Shprintzen-Goldberg Syndrome
Shprintzen-Goldberg syndrome (SGS) can be challenging to diagnose due to its overlapping features with other genetic disorders. The main differential diagnoses include:
- Marfan syndrome: SGS is often misdiagnosed as Marfan syndrome or Loeys-Dietz syndrome due to the similar facial, skeletal and cardiovascular features [2]. However, intellectual disability and distinctive craniofacial features are more common in SGS.
- Loeys-Dietz syndrome (LDS): The phenotype of Shprintzen-Goldberg syndrome is often confused with Loeys-Dietz syndrome due to the similar facial, skeletal and cardiovascular features [3]. However, intellectual disability and distinctive craniofacial features are more common in SGS.
- Mowat-Wilson (MWS) syndrome: Main differential diagnoses include Mowat-Wilson (MWS) and Baraitser-Winter syndromes. Different facial characteristics (thick, horizontal eyebrows and uplifted nasal tip) can help distinguish SGS from these conditions [6].
- Baraitser-Winter syndrome: This is another condition that shares some similarities with Shprintzen-Goldberg syndrome.
Key Features to Distinguish SGS
To accurately diagnose Shprintzen-Goldberg syndrome, it's essential to look for the following distinctive features:
- Presence of multiple neonatal fractures, hypoplasia of the nasal bones, femoral bowing, and overlapping fingers [1]
- Intellectual disability
- Distinctive craniofacial features (thick, horizontal eyebrows and uplifted nasal tip)
- Skeletal abnormalities
References
[1] Presence of multiple neonatal fractures, hypoplasia of the nasal bones, femoral bowing, & overlapping fingers helps distinguish this disorder from SGS. HNRNPK ...
[2] SGS is often misdiagnosed as Marfan syndrome or Loeys-Dietz syndrome due to the similar facial, skeletal and cardiovascular features.
[3] Apr 9, 2020 — Differential Diagnosis. Loeys-Dietz syndrome (LDS) and Marfan syndrome (MFS). The phenotype of Shprintzen-Goldberg syndrome (SGS) is often confused with these conditions.
[6] Main differential diagnoses include Mowat-Wilson (MWS) and Baraitser-Winter syndromes. Different facial characteristics (thick, horizontal eyebrows and uplifted nasal tip) can help distinguish SGS from these conditions.
Additional Differential Diagnoses
Additional Information
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- A syndrome characterized by intellectual disability, specific facial gestalt and Hirschsprung's disease and that has_material_basis_in homozygous mutation in the KIAA1279 gene on chromosome 10q21.1.
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