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.

Author: Voodoorr Nikolmaran
Country: Lesotho
Language: English (Spanish)
Genre: Sex
Published (Last): 20 October 2004
Pages: 361
PDF File Size: 15.45 Mb
ePub File Size: 5.17 Mb
ISBN: 353-5-71126-471-4
Downloads: 80298
Price: Free* [*Free Regsitration Required]
Uploader: Karn

Only comments written in English can be processed.

She exhibited microcephaly with birdlike facies, natal teeth, sparse fine hair, and streifff hyperextensible fingers consistent with features of Hallermann-Streiff syndrome Figure 1.

Our website uses cookies to enhance your experience. Congenital heart defects are rare in HSS. Multiple caries, hypoplasia and retained teeth. J Bone Joint Surg Am ; Generalized odontodysplasia in a 5-year-old patient with Hallermann-Streiff syndrome: Hironao N, et al.

In almost all cases, HSS has appeared hal,ermann occur randomly for unknown reasons sporadicallyand this syndrome is thought to be the result of a new change to genetic material mutation. Genetic counseling may also be of benefit for affected individuals and their families. Related articles Congenital abnormalities Hallermann-Streiff syndrome orodental findings.

The orthopantommograph revealed multiple carious deciduous teeth, missing permanent teeth, hypoplastic coronoid and condylar processes Figure 7. Tracheomalacia is a complication that can lead to chronic respiratory insufficiency, resulting in biventricular cardiac failure and early death. This patient exhibited hypotrichosis, dyscephalia, birdlike facies, and atrophy of skin especially on the noseconsistent with Hallermann-Streiff syndrome also known as oculomandibulofacial syndrome.


Hallermann–Streiff syndrome – Wikipedia

How to cite this article: Treatments centre around the particular symptoms in each individual. About News Events Contact.

Except for the posterior retinal pigment epithelium temporal to the fovea, the retinal pigment epithelium exhibited a mottled appearance. A, The right fundus showed a hyperemic and hypervascular optic nerve with engorged retinal vessels. This article has been cited by. There was also presence of thin, brittle hairs on scalp Figure 2. In some cases, syreiff physical abnormalities have also been reported in association with the disorder.

Here we discuss a case of 9 years-old female child who presented with abnormal facial features, dental problems and streoff cardiac problems. Create a free personal account to download free article PDFs, sign up for alerts, and more.

Sclerectomy has been advocated for primary uveal effusion syndrome, but its efficacy in congenital uveal effusion in microphthalmic eyes is unknown.

Cataract and microphthalmos are the most apparent ocular features, but retinal abnormalities may strieff the primary cause of poor vision. Other treatment is symptomatic and supportive. Summary and related texts. In addition abnormal deposits of fat may accumulate around the buttocks, flanks, genitals and anus anogenital area. Obstruction may result from small nares and glossoptosis secondary to micrognathia and these may lead to cor pulmonale.

Regular visits to an ophthalmologist to monitor and deal with other eye problems, some of which may require surgery, are strongly recommended. CCC ]. Only comments seeking to improve the quality and accuracy of information on the Orphanet website are accepted. Hallermanb infants and children with Wiedemann-Rautenstrauch syndrome have unusually thin arms and legs; abnormally large hands and feet; progressive neurological and neuromuscular abnormalities; varying degrees of intellectual disability; and severe delays in the acquisition of skills requiring the coordination of mental and muscular activities psychomotor retardation.


Hallermann Streiff Syndrome-The Oral Manifestations in a Child

Click here to view. Craniodentofacial manifestations in Hallermann-Streiff syndrome. It is most likely due to a de novo mutation[6] and it may be associated with the GJA1 gene. However, apart from their role in mastication chewingteeth are also important for maintaining the vertical dimensions of the oral cavity, and the loss of teeth may worsen the glossoptosis posterior location of the tongue by over closure of the already small lower jaw micrognathia.

The Johns Hopkins University. Additional information Further information on this disease Classification s 6 Gene s 0 Clinical signs and symptoms Other website s 5.


The typical bird-like facies and parrot-beak nose, sparse hairs, hypertelorism, and strabismus Click here to view. The differential diagnoses to be considered are progeria Hutchinson- Gilfordmandibulofacial dysostosis and cleidocranial dysostosis, pyknodysostosis, Franceschetti mandibulofacial dysostosis, ectodermal aplasia and dysplasia, and occulodentoosseus dysplasia [ 12 ].

Can’t read the image?