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Disease Profile

Van den Ende Gupta syndrome

Prevalence
Prevalence estimates on Rare Medical Network websites are calculated based on data available from numerous sources, including US and European government statistics, the NIH, Orphanet, and published epidemiologic studies. Rare disease population data is recognized to be highly variable, and based on a wide variety of source data and methodologies, so the prevalence data on this site should be assumed to be estimated and cannot be considered to be absolutely correct.
<1 / 1 000 000

< 331

US Estimated

< 514

Europe Estimated

Age of onset

Infancy

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ICD-10

Q87.0

Inheritance

Autosomal dominant A pathogenic variant in only one gene copy in each cell is sufficient to cause an autosomal dominant disease

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Autosomal recessive Pathogenic variants in both copies of each gene of the chromosome are needed to cause an autosomal recessive disease and observe the mutant phenotype

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X-linked
dominant X-linked dominant inheritance, sometimes referred to as X-linked dominance, is a mode of genetic inheritance by which a dominant gene is carried on the X chromosome.

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X-linked
recessive Pathogenic variants in both copies of a gene on the X chromosome cause an X-linked recessive disorder

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Mitochondrial or multigenic Mitochondrial genetic disorders can be caused by changes (mutations) in either the mitochondrial DNA or nuclear DNA that lead to dysfunction of the mitochondria and inadequate production of energy.

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Multigenic or multifactor Inheritance involving many factors, of which at least one is genetic but none is of overwhelming importance, as in the causation of a disease by multiple genetic and environmental factors.

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Not applicable

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Other names (AKA)

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

Categories

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

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]

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.

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.

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

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]

Diagnosis

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

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 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

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.

References

  1. 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.
  2. 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.
  3. 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.
  4. 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.
  5. 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.
  6. 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.

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