Van den Ende-Gupta syndrome

Van den Ende-Gupta Syndrome: A Rare Autosomal Recessive Disorder

Van den Ende-Gupta syndrome (VDEGS) is a rare and extremely severe autosomal recessive disorder characterized by distinctive facial and skeletal features. The condition is present at birth and affects the facial features and skeletal system.

Key Features of VDEGS:

• Facial Dysmorphism: Affected individuals typically have a triangular face, malar hypoplasia (underdeveloped cheekbones), narrow nose, everted lips, and blepharophimosis (eyelid fusion).
• Skeletal Anomalies: Skeletal anomalies include slender ribs, hooked clavicles, and dislocated radial head.
• Arachnodactyly: Severe contractual arachnodactyly is a hallmark feature of VDEGS, characterized by long limbs and prominent elbow malleoli.

Genetic Basis:

VDEGS is caused by biallelic pathogenic variants in the SCARF2 gene. This genetic mutation leads to the development of the characteristic facial and skeletal features associated with the condition.

Diagnosis:

A diagnosis of VDEGS can be made based on clinical examination, imaging studies (such as X-rays or CT scans), and confirmed by genetic testing. A consultation and evaluation with a clinical genetic specialist are essential for accurate diagnosis and management.

References:

• [1] ORPHA:2460
• [3] Van den Ende-Gupta syndrome is an autosomal recessive disorder characterized by severe contractual arachnodactyly from birth and distinctive facial dysmorphism...
• [5] Van den Ende-Gupta syndrome is a rare autosomal recessive disorder characterized by severe contractual arachnodactyly, distinctive facial dysmorphism, and ...
• [11] Van den Ende-Gupta syndrome (VDEGS) is an autosomal recessive disorder characterized by severe contractual arachnodactyly from birth and distinctive facial dysmorphism...
• [12] Van den Ende-Gupta syndrome (VDEGS) is an autosomal recessive disorder characterized by severe contractual arachnodactyly from birth and distinctive facial dysmorphism...

Van den Ende-Gupta Syndrome: A Rare Genetic Disorder

Van den Ende-Gupta syndrome (VDEGS) is a rare autosomal recessive disorder characterized by distinctive facial features, joint contractures, and other physical abnormalities. The main signs and symptoms of VDEGS include:

• Severe contractual arachnodactyly: This is one of the most distinctive features of VDEGS, where the fingers and toes are severely contracted [1].
• Underdeveloped eyelids and jaw bones: Individuals with VDEGS often have underdeveloped eyelids and jaw bones, which can lead to a narrow opening between the eyelids [6].
• Long and thin limbs: People affected by VDEGS may have long and thin limbs, which can be accompanied by joint contractures [5].
• Severe patellar luxation: This is another characteristic feature of VDEGS, where the kneecap (patella) slips out of place [7].
• Abnormal facial features: The main symptoms of VDEGS affect the facial features of individuals affected, including underdeveloped eyebrows and a narrow mouth [6].
• Blepharophimosis: This is a rare condition where the eyelids are abnormally small or closed [5].

Other Physical Abnormalities

In addition to these main signs and symptoms, VDEGS can also be characterized by other physical abnormalities, including:

• Abnormal eyebrow morphology
• Abnormality of head or neck
• Abnormality of limbs
• Abnormality of prenatal development or birth
• Abnormality of the eye

References:

[1] Context 1 [5] Context 5 [6] Context 6 [7] Context 7

Diagnostic Tests for Van den Ende-Gupta Syndrome

Van den Ende-Gupta syndrome is a rare genetic disorder that requires a comprehensive diagnostic approach to confirm the diagnosis. The following tests and evaluations are typically used to diagnose this condition:

• Clinical Evaluation: A consultation with a clinical genetic specialist is essential to evaluate the individual's symptoms, medical history, and physical examination findings.
• Genetic Testing: Specific genetic testing for the SCARF2 gene can help identify mutations that cause Van den Ende-Gupta syndrome. This test can be performed on blood samples or other tissues.
• Imaging Studies: Imaging studies such as X-rays, CT scans, or MRI may be ordered to evaluate skeletal abnormalities and other physical features associated with the condition.

According to [result 3], specialists may also suggest specific genetic testing or other types of tests to help reach a diagnosis. Additionally, [result 10] mentions that diagnostic teams for Van den Ende-Gupta syndrome may include genetics, odontology, orthopedics, otolaryngology, and rare disease experts.

References:

• [3] FDNA’s AI technology can help speed up the diagnostic process by analyzing ...
• [10] A PCP can help you get specialist referrals, order diagnostic tests, and coordinate providers as you build a healthcare team. ... Diagnostic teams for Van den Ende-Gupta syndrome may include: Genetics . Odontology . Orthopedics . Otolaryngology . Rare Disease Experts .

Please note that the diagnosis of Van den Ende-Gupta syndrome should be made by a qualified medical professional, and these tests are not exhaustive or definitive on their own. A comprehensive evaluation and consultation with a specialist are necessary to confirm the diagnosis.

Treatment for Van den Ende-Gupta Syndrome

Van den Ende-Gupta syndrome, a rare genetic disorder, requires focused management to alleviate symptoms and improve quality of life. While there is no specific cure for the condition, treatment options are available to address its various manifestations.

• Surgical interventions: Some individuals with Van den Ende-Gupta syndrome may benefit from surgical procedures to correct facial and jaw abnormalities. This can help improve respiratory function, speech, and overall appearance [6].
• Symptom management: Treatment is centered on managing the symptoms associated with the condition. This may involve a multidisciplinary approach, incorporating expertise from various medical specialties [6].
• Genetic counseling: Given the autosomal recessive inheritance pattern of Van den Ende-Gupta syndrome, genetic counseling can be essential for families affected by the condition. This helps them understand the risk of passing on the disorder to future generations and make informed decisions about family planning.

It is crucial to note that treatment plans should be tailored to individual needs and may involve a team of healthcare professionals. Early diagnosis and intervention can significantly impact the management of Van den Ende-Gupta syndrome, allowing for more effective symptom control and improved quality of life.

References:

• [6] Treatment for Van den Ende Gupta syndrome is focused on managing the symptoms. Some people with this condition may benefit from surgery for the face and jaw.
• [14] Mutations in SCARF2 are responsible for Van Den Ende-Gupta syndrome.

Understanding Differential Diagnosis of Van den Ende-Gupta Syndrome

Van den Ende-Gupta syndrome (VDEGS) is a rare genetic disorder characterized by unique facial features, skeletal anomalies, and intellectual disability. When diagnosing VDEGS, it's essential to consider differential diagnoses that may present similar symptoms.

Key Considerations:

• Marden-Walker Syndrome: This condition shares similarities with VDEGS, including intellectual disability, facial dysmorphism, and joint contractures.
• Beals Congenital Contractural Arachnodactyly: This syndrome also presents with skeletal anomalies, joint contractures, and characteristic facial features.
• D4ST1-Deficient Ehlers-Danlos Syndrome (Adducted Thumb-Clubfoot Syndrome): This condition is characterized by joint laxity, skin hyperextensibility, and characteristic hand and foot deformities.
• Schwartz-Jampel Syndrome: This rare disorder presents with skeletal anomalies, intellectual disability, and distinctive facial features.

Diagnostic Approach:

When diagnosing VDEGS, it's crucial to consider these differential diagnoses and rule them out through a comprehensive diagnostic workup. This may include:

• Clinical examination
• Imaging studies (e.g., X-rays, CT scans)
• Genetic testing (e.g., SNP microarray, whole exome sequencing)

Expert Consultation:

In cases where diagnosis remains uncertain, consultation with rare disease experts or specialists in genetics and pediatric medicine can provide valuable guidance.

References:

• [1] Van den Ende-Gupta syndrome is a very rare syndrome characterized by blepharophimosis, arachnodactyly, joint contractures, and characteristic dysmorphic features.
• [10] Marden–Walker syndrome is challenging to diagnose, as there is significant overlap with other multi-system congenital contracture syndromes including Beals congenital contractural arachnodactyly, D4ST1-Deficient Ehlers–Danlos syndrome (adducted thumb-clubfoot syndrome), Schwartz–Jampel syndrome, Freeman–Sheldon syndrome, Cerebro-oculo-facio-skeletal syndrome, and Van den Ende–Gupta syndrome.
• [11] Van den Ende-Gupta Syndrome is a rare autosomal recessive syndrome caused by homozygous variants in the scavenger receptor class F member 2 (SCARF2) gene.