What is Van Den Ende-Gupta syndrome?
Van Den Ende-Gupta syndrome is a rare genetic syndrome, present at birth, and associated with unique facial features and skeletal anomalies. There have been 40 cases of the syndrome reported worldwide so far. Little is still known about how the condition progresses in affected individuals with age.
This syndrome is also known as:
Blepharophimosis, Arachnodactyly, and Congenital Contractures; Marden-Walker-like Syndrome without Psychomotor Retardation; VDEGS
What gene changes cause Van Den Ende-Gupta syndrome?
The syndrome is caused when the SCARF2 gene does not work properly.
It is inherited in an autosomal recessive pattern. Autosomal recessive inheritance means an affected individual receives one copy of a mutated gene from each of their parents, giving them two copies of a mutated gene. Parents, who carry only one copy of the gene mutation will not generally show any symptoms but have a 25% chance of passing the copies of the gene mutations onto each of their children.
What are the main symptoms of Van Den Ende-Gupta syndrome?
- The main symptoms of the syndrome affect the facial features of individuals affected. These might include but are not limited to underdeveloped eyelids, underdeveloped jaw bones, an unusually shaped nose, long fingers, bent joints (contractures), and the presence of underdeveloped bones in the feet, shoulders, and ribs.
- Other features include underdeveloped eyebrows, a narrow opening between the eyelids, a depressed bridge of the mouth, and a drooping lower lip.
- A hardening of the skin and connective tissue has also been associated with this syndrome.
Possible clinical traits/features:
Hypoplasia of the zygomatic bone, Glenoid fossa hypoplasia, Underdeveloped nasal alae, Hypoplasia of the maxilla, Lateral clavicle hook, High palate, Hallux valgus, Hypertelorism, Depressed nasal bridge, Craniosynostosis, Bowing of the long bones, Dislocated radial head, Disproportionate tall stature, Elbow dislocation, Elbow flexion contracture, Everted lower lip vermilion, Dental crowding, Malar flattening, Limitation of joint mobility, Delayed skeletal maturation, Clinodactyly of the 5th finger, Femoral bowing, Thin ribs, Single umbilical artery, Sclerocornea, Protruding ear, Autosomal recessive inheritance, Ulnar bowing, Slender long bone, Camptodactyly of finger, Talipes equinovarus, Talipes, Distal ulnar hypoplasia, Stridor, Pectus excavatum, Abnormality of dental morphology, Long metacarpals, Narrow nasal bridge, Narrow nose, Narrow foot, Intellectual disability, Long toe, Long hallux, Slender metacarpals, Macrotia, Laryngomalacia, Joint contracture of the hand, Knee flexion contracture, Abnormal eyebrows.
How is it diagnosed?
To find out if someone has a diagnosis of Van Den Ende-Gupta syndrome, it is important to have a consultation and evaluation with a clinical genetic specialist. Specialists may also suggest specific genetic testing or other types of tests to help reach a diagnosis. FDNA’s AI technology can help speed up the diagnostic process by analyzing facial features and other health information.
