What is beare stevenson syndrome. Beare

Beare

what is beare stevenson syndrome

For questions regarding permissions or whether a specified use is allowed, contact:. This information comes from a database called the. Minimal subcutaneous fat, abdominal wall defects, cryptorchidism in males, and myopia are also characteristic findings. Primary Craniosynostosis Primary craniosynostosis needs to be distinguished from secondary craniosynostosis. He is one of 30 people in the world to be diagnosed with Beare-Stevenson syndrome, a craniofacial disorder.

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Cutis Gyrata syndrome of Beare and Stevenson

what is beare stevenson syndrome

And they listened to their teacher read a book about being different. Brachydactyly, syndactyly, and aplasia or hypoplasia of the middle phalanges is present in the hands. The patient had dental findings of natal teeth and hypodontia of the primary and permanent teeth. Others may exhibit twisted hair, fragile nails, scarcity of body hair, and fragile nails, and even mental retardation. The high prevalence of dental anomalies and ectopic eruption may suggest a possible etiologic relationship with the syndrome. Predictive testing for at-risk asymptomatic adult family members requires prior identification of the in the family.

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Figure 2 from Second case of Beare

what is beare stevenson syndrome

Together with two previously reported cases, the syndrome is delineated from the six known cases. It will aid clinicians in treating these patients and further, the recognition of a possible syndrome in patients with hearing loss who also have syndromic features. Early diagnosis may allow mildly affected relatives to benefit from early surveillance and intervention. Although mild to moderate developmental delay and intellectual disability have been reported, normal intelligence is more common. There are two splice variants, of which the full nature is unknown. Molecular Genetics In 3 patients with sporadic Beare-Stevenson cutis gyrata syndrome, Przylepa et al. Narrow ear canals have been described in some patients and profound bilateral conductive hearing loss in one.

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OMIM Entry

what is beare stevenson syndrome

Non-communicating hydrocephalus is another complication that can result in neurologic impairment or death if not diagnosed and treated at an early stage. For example, in most individuals, elbow contractures are at approximately the same angle, often so that an individual cannot reach the mouth easily with the hands or clean appropriately following toileting; functional improvement can be achieved if the angle of each arm is altered so that one arm is positioned for eating and the other for toileting. While most centers would consider decisions regarding prenatal testing to be the choice of the parents, discussion of these issues is appropriate. As on date, there is no proven course of treatment available due to paucity of reported cases of this syndrome. Standard Giemsa-banding studies may detect translocations or gross cytogenetic deletions involving 7p13. Cutis gyrata variably affects the scalp, forehead, face, preauricular area, neck, trunk, hands, and feet. Expert curators review the literature and organize it to facilitate your work.

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Alberta boy born with rare illness no big deal for classmates: ‘Are we going to play?’

what is beare stevenson syndrome

When the is known in the family, can be used to evaluate relatives for the disorder. People with the same disease may not have all the symptoms listed. The syndrome consists of craniofacial anomalies, particularly craniosynostosis, and ear defects, cutis gyrata, acanthosis nigricans, anogenital anomalies, skin tags, and prominent umbilical stump. Most children have normal intelligence. Patients with severe proptosis often require ophthalmologic lubrication to prevent exposure keratopathy. Many of these features are characteristic of some of the autosomal dominant craniosynostotic syndromes.

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OMIM Entry

what is beare stevenson syndrome

Cause of Beare Stevenson Cutis Gyrata syndrome: There is a deficiency of scientific information as to the cause of this genetic disorder. All 6 cases have been sporadic. The occipital region was flattened and the overlying skin was markedly corrugated, with deep furrows arranged vertically. The incidence of Crouzon syndrome is 1. This disorder has occurred in families with no previous history of this disorder.

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