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Disease Profile
Van den Ende Gupta syndrome
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.
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Age of onset
Infancy
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.
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.
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.
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.
X-linked
recessive Pathogenic variants in both copies of a gene on the X chromosome cause an X-linked recessive disorder.
recessive Pathogenic variants in both copies of a gene on the X chromosome cause an X-linked recessive disorder.
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.
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.
Not applicable
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
Symptoms
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 |
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 roof of mouth
|
0000175 | |
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 |
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 |
Diagnosis
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
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
- 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.
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