Hallermann-Streiff syndrome (HSS) is a rare disorder that is primarily characterized by distinctive malformations of the skull and facial (craniofacial) region;. Hallermann-Streiff syndrome (HSS) is a rare genetic disorder that is primarily characterized by distinctive malformations of the skull and facial region, sparse hair. Hallermann-Streiff syndrome is characterized by a typical skull shape ( brachycephaly with frontal bossing), hypotrichosis, microphthalmia, cataracts, beaked.

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Summary and related texts. Specialised Social Services Eurordis directory. This page was last edited on 26 Novemberat Indeed, a histopathologic case series of 8 eyes with uveal effusion included a case of Hallermann-Streiff syndrome that demonstrated abnormal scleral collagen. Only comments written in English can be processed. Another possibility is early onset Cockayne syndrome, an autosomal recessive disorder resulting in severe failure to thrive, severe mental retardation, congenital cataracts, loss of adipose tissue, joint contractures, distinctive face with small, deep-set eyes and prominent nasal bridge, kyphosis, and cachectic dwarfism.

Genetic counseling may also be of benefit for affected individuals and their families. Radiologic findings in 5 cases and in the literature were reviewed by Christian et al. Disease definition Hallermann-Streiff syndrome is a rare genetic syndrome characterized mainly by head and facial abnormalities such as bird-like facies with beak-shaped nose and retrognathiahypoplastic mandible, brachycephaly with frontal bossing, dental abnormalities e.

Such congenital heart defects have included an abnormal opening in the partition septum that separates the lower or upper chambers of the heart ventricular or atrial septal defects or abnormal narrowing of the opening between the pulmonary artery and the right ventricle of the heart pulmonary stenosis. Examination of the face revealed frontal bossing, small and thin face, beaked nose with atrophy of skin near nose Figure 3,4.

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Mental retardation is present in a minority of cases Gorlin et al. Our main objective here is to report a case of HSS in 9 years old female child with physical and oral features consistent with the syndrome as well as detection of mutism in this syndromme which has not been reported earlier in cases of HSS.

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Hallermann–Streiff syndrome – Wikipedia

Skull and face Craniosynostosis: General Discussion Summary Hallermann-Streiff syndrome HSS is a rare disorder that is primarily characterized by distinctive malformations of the skull and facial craniofacial region; sparse hair hypotrichosis ; eye abnormalities; dental defects; degenerative skin changes atrophyparticularly srteiff the scalp and nasal regions; and proportionate short stature.

The most common ocular finding is clouding opacity of the lenses of both eyes at birth congenital bilateral cataracts.

Hallermann-Streiff syndrome associated with sclerocornea, aniridia, and a chromosomal abnormality. Sign in to save your search Sign in to your personal account.

The genetic cause of Hallermann—Streiff syndrome has not been conclusively determined. Other treatment is symptomatic and supportive. Ophthalmologic examination revealed bilateral microphthalmia, horizontal corneal diameters of 6 mm, and bilateral visually significant cataracts preventing view of the ocular fundi.

Macular Retinal Detachment in Hallermann-Streiff Syndrome

Detailed information Professionals Anesthesia guidelines Englishpdf. The diagnosis may be confirmed by thorough clinical evaluation; hllermann detailed patient history; and specialized tests e.

Treatment of the nasal abnormalities of Hallermann-Streiff syndrome by lipofilling. Investigational Therapies Information on current clinical trials is posted on the Internet at https: Congenital cataracts in mother, sister, and son of a patient with Hallermann-Streiff syndrome: The patient was pre term 34 weeks low birth weight 2.

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Warburg emphasized that the diagnosis is doubtful in the absence of cataract or microphthalmia.

Glossoptosis refers to downward displacement or retraction of the tongue that may occur secondary to abnormal smallness of the lower jaw micrognathia. Koliopoulos and Palimeris observed 5 cases in 3 generations with male-to-male transmission. Mandibulofacial dysostosis usually has ear anomalies and lower eyelid colobomas [ 13 ]. Infobox medical condition new All articles with unsourced statements Articles with unsourced statements from May Clinical Synopsis Toggle Synrrome.

Surgical correction of Hallermann-Streiff syndrome: Hallermann—Streiff syndrome Branchial cleft cyst.

For information about clinical trials sponsored by private sources, contact: Can’t read the image? Copyright American Medical Association. There are major differences but there are also similarities in phenotype, which sustain the suggestion that the syndrome can be caused by disturbed POLR3A functioning. Five negative signs were also described by Francois as differential diagnostic criteria for HSS.

Genu valgum Genu varum Genu recurvatum Discoid meniscus Congenital patellar dislocation Congenital knee dislocation. In a review, Cohen pointed out that all cases have been sporadic, that the disorder has been both concordant and discordant in monozygotic twins, and that an affected female with 2 normal children was reported by Ponte Hallermann-Streiff syndrome is frequently characterized by dental abnormalities.

In addition, there have also been reports in which respiratory insufficiency e. In addition, affected infants and children are prone to repeated respiratory infections that may result in life-threatening complications. Nicholson AD, Menon S. Harrod and Friedman described a woman with HSS who had a son with congenital cataracts.