Disease definition. Hallermann-Streiff syndrome is a rare genetic syndrome characterized mainly by head and facial abnormalities such as bird-like facies ( with. Hallermann-Streiff syndrome is characterized by a typical skull shape ( brachycephaly with frontal bossing), hypotrichosis, microphthalmia, cataracts, beaked. Hallermann-Streiff syndrome (HSS) is a rare inherited disorder characterized by malformations of the cranium and facial bones, congenital.

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In addition abnormal deposits of fat may accumulate around the buttocks, flanks, genitals and anus anogenital area. In many cases, additional abnormalities are also present.

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Orphanet: Hallermann Streiff syndrome

The patient was not able to speak mute but she could hear properly. By using this site, you agree to the Terms of Use and Privacy Policy. J Genet Syndr Gene Ther 6: Both of monozygotic twins were affected in the report of Van Balen Can’t read the image?

More than cases have been reported in the medical literature. Except for the posterior retinal pigment epithelium temporal to the fovea, the retinal pigment epithelium exhibited a mottled appearance.

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Standard Therapies Treatment The treatment of Hallermann-Streiff syndrome is directed toward the specific symptoms that are apparent in each individual. She exhibited microcephaly with birdlike facies, natal teeth, sparse fine hair, and long hyperextensible fingers consistent with features of Hallermann-Streiff syndrome Figure 1.

Sigirci A, et al. Associated symptoms and signs vary greatly in range and severity from case to case. Treatments centre around the particular symptoms in each individual.

Macular Retinal Detachment in Hallermann-Streiff Syndrome

NeonatalInfancy ICD Retinal detachments involving the posterior pole in Hallermann-Streiff syndrome. According to the literature this syndrome is characterized by seven classical signs, of which our patient had most: Obstructive sleep apnoea in a puerperal patient with Hallermann-Streiff syndrome. Years Published,, For information about clinical trials conducted in Europe, contact: Report of a Case.

The options available to circumvent the problems during difficult intubation are, awake intubation, intubation over a fiberoptic bronchoscope and intubation under inhalational anesthesia.

Orodental findings in Hallermann-Streiff syndrome Parikh S, Gupta S – Indian J Dent Res

Eur Sreiff J ; Congenital heart defects are rare in HSS. Views Read Edit View history. Hallermann—Streiff syndrome Branchial cleft cyst. Hand-wrist radiographs reveal bilateral syndactyly involving the 4 th and 5 th digits, with complete soft tissue fusion and bony fusion at the distal phalanges Click here to view.

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Government funding, and some supported by private industry, are posted on this government website. The disorder was named for two eye doctors who later independently reported cases of the syndrome, recognizing it as a distinct disease entity.

Rare Disease Database

He knew of 2 instances of concordant monozygotic twins and at least 10 families with 2 or more cases. There are major differences but there are also hallermannn in phenotype, which sustain the suggestion that the syndrome can be caused by disturbed POLR3A functioning. Together we are strong. Syndromes of the Head and Neck.