Van Den Ende-Gupta syndrome

Was ist Van Den Ende-Gupta syndrome?

It 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

Was Genveränderungen verursachen 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.

Was sind die wichtigsten symptome von Van Den Ende-Gupta syndrome?

The main symptoms of the syndrome affected 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, 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

Wie wird jemand getestet? Van Den Ende-Gupta syndrome?

Die ersten Tests für Van Den Ende-Gupta syndrome kann mit einem Gesichtsanalyse-Screening beginnen, durch die FDNA Telehealth Telegenetik-Plattform, die die Schlüsselmarker der syndrom und skizzieren Sie die Notwendigkeit weiterer Tests. Es folgt ein Beratungsgespräch mit einem genetischen Berater und dann einem Genetiker. 

Basierend auf dieser klinischen Konsultation mit einem Genetiker werden die verschiedenen Optionen für Gentests geteilt und die Zustimmung für weitere Tests eingeholt.

Medizinische Informationen zu Van Den Ende-Gupta syndrome

Van den Ende (1992) reported a 10-year-old girl, born to consanguineous Brazilian parents. She had normal intelligence, blepharophimosis, malar hypoplasia, a beaked nose, an everted lower lip, and arachnodactyly of fingers and toes with camptodactyly of fingers and toes 3-5. The authors propose a 'new', autosomal recessive Marden-Walker-like syndrome.

Gupta et al., (1995) reported a 3-year-old girl with similar features. The parents were first cousins. Radiographs showed maxillary hypoplasia with a small anterior cranial fossa, slender ribs, hooked lateral ends to the clavicles, an absent glenoid fossa, bowed humeri, ulnae and femora, and relatively long fibulae. The bones of the hands and feet were relatively long, with the exception of the terminal phalanges which were shortened. Phadke et al., (1998) reported two unrelated Indian girls with some features of the condition.

Bistritzer et al., (1993) reported two double second cousins from an inbred pedigree. Cardiac examination and general development were normal. One female infant had a prominent clitoris and fused labia. These individuals may well have Van Den Ende-Gupta syndrome.

Schweitzer et al., (2003) reported two Hispanic brothers born to unrelated parents. They brothers both had distinctive cerebellar enlargement, a new finding for this disorder. The case reported by Ozbek et al., (2005) probably falls within this category. Interestingly, the father had some features (absent flexion creases, blepharophimosis and an expressionless face) of the condition. A new case and a review of the literature were provided by Guerra et al., (2006). Two sisters with stridor were found in addition to have large, globular cuneiform cartilages, shortened aryepiglottic folds, a tightly coiled epiglottis and laryngomalacia (Carr et al., 2007).

Two brothers and their half-sister (same mother who married unrelated men) were reported by Leal and Silva (2009). Given this unusual mode of inheritance and given the deafness (sensori-neural) and the deviation of the nasal septum in two, the authors suggest heterogeneity for the phenotype.
The condition has now been mapped to 22q11 and mutations found in SCARF2 (Anastasio et al., 2010). Note the patient reported by Bedeschi et al., (2010), with this condition, unmasked by a 22q11.12 de novo deletion. Clinical features of four consanguineous Qatar families was reported by Ali et al., (2010). Sclerocornea can be a feature (Migliavacca et al., 2014)

Al-Qattan et al., (2018) described a Saudi family with two children (age 11 and 15 years) with Van Den Ende-Gupta syndrome. Clinical features included blepharophimosis, arachnodactyly, elbow contractures, camptodactyly, slender ribs, hooked lateral clavicular ends, and bilateral radial head dislocations. Additional features included joint laxity, flat feet, patellar dislocations, and bilateral short distal ulnae. A homozygous mutation in SCARF2 was identified in both children.

* This information is courtesy of the L M D.
If you find a mistake or would like to contribute additional information, please email us at: [email protected]

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