Van den Ende Gupta syndrome

Title

Other Names:

Marden Walker like syndrome without psychomotor retardation; VDEGS; Blepharophimosis, arachnodactyly, and congenital contractures; Marden Walker like syndrome without psychomotor retardation; VDEGS; Blepharophimosis, arachnodactyly, and congenital contractures; Marden-Walker-like syndrome See More

Categories:

Congenital and Genetic Diseases; Ear, Nose, and Throat Diseases; Mouth Diseases

Summary Summary

Van den Ende Gupta syndrome is present at birth and affects the facial features and skeletal system. Symptoms of Van den Ende Gupta syndrome include underdeveloped eyelids and jaw bones; long and bent fingers; cleft palate; and other bone abnormalities. Intelligence is average. Very little is known about how this condition changes over time. Van den Ende Gupta syndrome is caused by a SCARF2 gene that is not working correctly. It is inherited in an autosomal recessive pattern. Diagnosis is based on the symptoms, clinical examination, imaging studies and confirmed by genetic testing. Treatment is focused on managing the symptoms. Surgery can help correct the underdevelopment of facial features.^[1]^[2]^[3]

Last updated: 8/28/2020

Symptoms Symptoms

The following list includes the most common signs and symptoms in people with Van den Ende Gupta syndrome. These features may be different from person to person. Some people may have more symptoms than others and symptoms can range from mild to severe. This list does not include every symptom or feature that has been described in this condition.

Symptoms may include:^[1]^[2]^[3]

Underdeveloped eyelids
Underdeveloped jaw bones
Unusual nose
Long fingers
Bent joints
Underdeveloped bones in the feet, shoulders and ribs

Van den Ende Gupta syndrome is present at birth. Intelligence is average. About 40 cases have been reported in the medical literature and little is known about how this condition changes over time.

Last updated: 8/28/2020

This table lists symptoms that people with this disease may have. For most diseases, symptoms will vary from person to person. People with the same disease may not have all the symptoms listed. This information comes from a database called the Human Phenotype Ontology (HPO) . The HPO collects information on symptoms that have been described in medical resources. The HPO is updated regularly. Use the HPO ID to access more in-depth information about a symptom.

Showing of 40 |

Medical Terms	Other Names	Learn More: HPO ID
5%-29% of people have these symptoms
Sclerocornea	Hardening of skin and connective tissue	0000647
Percent of people who have these symptoms is not available through HPO
Abnormal eyebrow morphology	Abnormality of the eyebrow	0000534
Arachnodactyly	Long slender fingers Spider fingers [ more ]	0001166
Autosomal recessive inheritance		0000007
Blepharophimosis	Narrow opening between the eyelids	0000581
Camptodactyly of toe		0001836
Choanal stenosis	Narrowing of the rear opening of the nasal cavity	0000452
Cleft palate	Cleft roof of mouth	0000175
Craniosynostosis		0001363
Dental crowding	Crowded teeth Dental overcrowding Overcrowding of teeth [ more ]	0000678
Depressed nasal bridge	Depressed bridge of nose Flat bridge of nose Flat nasal bridge Flat, nasal bridge Flattened nasal bridge Low nasal bridge Low nasal root [ more ]	0005280
Dislocated radial head		0003083
Distal ulnar hypoplasia		0005033
Elbow flexion contracture	Contractures of elbows Elbow contracture Elbow contractures [ more ]	0002987
Everted lower lip vermilion	Drooping lower lip Outward turned lower lip [ more ]	0000232
Femoral bowing	Bowed thighbone	0002980
Glenoid fossa hypoplasia		0006633
Hallux valgus	Bunion	0001822
High palate	Elevated palate Increased palatal height [ more ]	0000218
High, narrow palate	Narrow, high-arched roof of mouth Narrow, highly arched roof of mouth [ more ]	0002705
Hypoplasia of the maxilla	Decreased size of maxilla Decreased size of upper jaw Maxillary deficiency Maxillary retrusion Small maxilla Small upper jaw Small upper jaw bones Upper jaw deficiency Upper jaw retrusion [ more ]	0000327
Joint contracture of the hand		0009473
Knee flexion contracture		0006380
Laryngomalacia	Softening of voice box tissue	0001601
Lateral clavicle hook	Hook-shaped collarbone	0000895
Long hallux	Long big toe	0001847
Long metacarpals	Elongated long bone of hand	0010493
Malar flattening	Zygomatic flattening	0000272
Narrow foot	Slender feet	0001786
Narrow nose	Decreased nasal breadth Decreased nasal width Thin nose [ more ]	0000460
Pectus excavatum	Funnel chest	0000767
Protruding ear	Prominent ear Prominent ears [ more ]	0000411
Single umbilical artery	Only one artery in umbilical cord instead of two	0001195
Slender long bone	Long bones slender Thin long bones [ more ]	0003100
Slender metacarpals	Slender long bones of hand	0006236
Stridor		0010307
Talipes equinovarus	Club feet Club foot Clubfeet Clubfoot [ more ]	0001762
Thin ribs	Slender ribs	0000883
Ulnar bowing	Curving of inner forearm bone	0003031
Underdeveloped nasal alae	Underdeveloped tissue around nostril	0000430

Showing of 40 |

Do you have more information about symptoms of this disease? We want to hear from you.

Last updated: 9/1/2020

Cause Cause

Van den Ende Gupta syndrome is caused by the SCARF2 gene not working correctly. DNA changes known as pathogenic variants are responsible for making genes work incorrectly or sometimes, not at all.^[4]

Last updated: 8/28/2020

Inheritance Inheritance

Van den Ende Gupta syndrome is inherited in an autosomal recessive pattern.^[1]^[4] All individuals inherit two copies of each gene. Autosomal means the gene is found on one of the numbered chromosomes found in both sexes. Recessive means that both copies of the responsible gene must be altered to have the condition.

People with autosomal recessive conditions inherit one alteration from each of their parents. The parents, who each have one gene alteration, are known as carriers. Carriers of an autosomal recessive condition typically do not have any signs or symptoms (they are unaffected). When two carriers of an autosomal recessive condition have children, there is a 25% (1 in 4) chance to have a child with the condition.

Last updated: 8/28/2020

Diagnosis Diagnosis

Van den Ende Gupta syndrome is diagnosed based on the symptoms, clinical exam, imaging studies, and confirmed by genetic testing.^[1]^[2]

Last updated: 8/28/2020

Testing Resources

The Genetic Testing Registry (GTR) provides information about the genetic tests for this condition. The intended audience for the GTR is health care providers and researchers. Patients and consumers with specific questions about a genetic test should contact a health care provider or a genetics professional.

Treatment Treatment

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.^[1]^[5]

Specialists involved in the care of someone of Van den Ende Gupta syndrome may include:

Radiologist
Orthopedist
Maxillofacial surgeon

Last updated: 8/28/2020

Statistics Statistics

The exact number of people with Van den Ende Gupta syndrome is unknown. There have been about 40 cases of this condition reported in the medical literature.^[2]

Last updated: 8/28/2020

Do you have updated information on this disease? We want to hear from you.

Find a Specialist Find a Specialist

If you need medical advice, you can look for doctors or other healthcare professionals who have experience with this disease. You may find these specialists through advocacy organizations, clinical trials, or articles published in medical journals. You may also want to contact a university or tertiary medical center in your area, because these centers tend to see more complex cases and have the latest technology and treatments.

If you can’t find a specialist in your local area, try contacting national or international specialists. They may be able to refer you to someone they know through conferences or research efforts. Some specialists may be willing to consult with you or your local doctors over the phone or by email if you can't travel to them for care.

You can find more tips in our guide, How to Find a Disease Specialist. We also encourage you to explore the rest of this page to find resources that can help you find specialists.

Healthcare Resources

To find a medical professional who specializes in genetics, you can ask your doctor for a referral or you can search for one yourself. Online directories are provided by the American College of Medical Genetics and the National Society of Genetic Counselors. If you need additional help, contact a GARD Information Specialist. You can also learn more about genetic consultations from Genetics Home Reference.

Learn More Learn More

These resources provide more information about this condition or associated symptoms. The in-depth resources contain medical and scientific language that may be hard to understand. You may want to review these resources with a medical professional.

In-Depth Information

The Monarch Initiative brings together data about this condition from humans and other species to help physicians and biomedical researchers. Monarch’s tools are designed to make it easier to compare the signs and symptoms (phenotypes) of different diseases and discover common features. This initiative is a collaboration between several academic institutions across the world and is funded by the National Institutes of Health. Visit the website to explore the biology of this condition.
Online Mendelian Inheritance in Man (OMIM) is a catalog of human genes and genetic disorders. Each entry has a summary of related medical articles. It is meant for health care professionals and researchers. OMIM is maintained by Johns Hopkins University School of Medicine.
Orphanet is a European reference portal for information on rare diseases and orphan drugs. Access to this database is free of charge.
PubMed is a searchable database of medical literature and lists journal articles that discuss Van den Ende Gupta syndrome. Click on the link to view a sample search on this topic.

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References References

Niederhoffer KY, Fahiminiya S, Eydoux P, Mawson J, Nishimura G, et al. Diagnosis of Van den Ende-Gupta syndrome: Approach to the Marden-Walker-like spectrum of disorders. Am J Med Genet A. 2016; 170(9):2310-2321. https://pubmed.ncbi.nlm.nih.gov/27375131.
Al-Qattan MM, Andejani DF, Sakati NA, Ramzan K, Imtiaz F. Inclusion of joint laxity, recurrent patellar dislocation, and short distal ulnae as a feature of Van Den Ende-Gupta syndrome: a case report. BMC Med Genet. 2018; 19(1):18. https://pubmed.ncbi.nlm.nih.gov/29378527.
Patel N, Salih MA, Alshammari MJ, et al. Expanding the clinical spectrum and allelic heterogeneity in van den Ende-Gupta syndrome.. Clin Genet. 2014;85(5):492-494. 2014; 85(5):492-495. https://pubmed.ncbi.nlm.nih.gov/23808541.
Anastasio N, Ben-mran T, Teebi A, et al. Mutations in SCARF2 are responsible for Van Den Ende-Gupta syndrome. Am J Hum Genet. 2010; 87(4):553-559. https://pubmed.ncbi.nlm.nih.gov/20887961.
Hammoudeh JA, Goel P, Wolfswinkel EM, et al. Simultaneous Midface Advancement and Orthognathic Surgery: A Powerful Technique for Managing Midface Hypoplasia and Malocclusion. Plast Reconstr Surg. 2020; 145(6):1067e-1072e. https://pubmed.ncbi.nlm.nih.gov/32459778.
Migliavacca MP, Sobreira NL, Antonialli GP, et al. Sclerocornea in a patient with van den Ende-Gupta syndrome homozygous for a SCARF2 microdeletion. Am J Med Genet A. 2014; 164A(5):1170-1174. https://pubmed.ncbi.nlm.nih.gov/24478002.