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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Ha,lermann a free personal account to download free article PDFs, sign up for alerts, customize your interests, and more. Dyscephaly with microphthalmos, cataract and hypoplasia of the mandible.
The overall findings suggested Hallermen Streiff syndrome and full mouth rehabilitation was planned. Sclerectomy has been advocated for primary uveal effusion syndrome, but its efficacy in congenital uveal effusion in microphthalmic eyes is unknown.
The most common ocular finding is clouding opacity of the lenses of both eyes at birth congenital bilateral cataracts. Hallermann—Streiff syndrome Branchial cleft cyst.
OMIM Entry – % – HALLERMANN-STREIFF SYNDROME; HSS
Intellectual disability is reported in some cases. To call this Francois syndrome Battin et al. D ICD – The cataracts in the patient with HSS were no more severe than hzllermann in first-degree relatives who had only cataracts.
Respiratory obstruction and cor pulmonale in the Hallermann-Streiff syndrome. In all but 3 of these, the affected persons were sibs.
Sequencing of the genes LMNA, ZMPSTE24 and ICMT in 8 patients with Hallermann-Streiff syndrome revealed no evidence that this disorder is a type of laminopathy, but these other conditions remain part of the differential diagnosis, particularly when autosomal recessive inheritance is suspected. From Wikipedia, the halkermann encyclopedia.
This page was last edited on 26 Novemberat It is characterized by bird-like facies, dental abnormalities, hypotrichosis, atrophy of skin, congenital cataracts, bilateral microphthalmia, and proportionate nanism. Investigational Therapies Information on current clinical trials is posted on the Internet at https: Upper airway obstruction may result from small nares and glossoptosis tongue falling backwards secondary to micrognathia, and these may lead to cor pulmonale [ 3 ].
In addition abnormal deposits of fat may accumulate around the buttocks, flanks, genitals and anus anogenital area. The uniqueness of our report is the presence of mutism in this syndrome which has not been reported earlier in literature.
Sign in to download free article PDFs Sign in to access your subscriptions Sign in to your personal account. Steele and Bass emphasized the lack of mandibular angle and hypoplasia of the clavicles and ribs. Hallermann-Streiff syndrome also known as oculomandibulofacial syndrome is a rare syndrome chiefly hallrmann facial and ocular abnormalities. Retrieved from ” https: In almost all reported cases, Hallermann-Streiff syndrome has occurred randomly for unknown reasons sporadicallymost likely due to nallermann new spontaneous dominant genetic change mutation.
Males and females are equally affected. Dennis Fairhurst Moore s The nose is typically quite narrow and pointed; with a narrow nasal bridge, small nostrils and underdeveloped nasal cartilage that tends to become more convex beaked with age. Wiedemann-Rautenstrauch syndrome also known as neonatal progeroid syndrome is an extremely rare genetic disorder characterized by an aged appearance at birth neonatal progeroid appearance ; growth delays before and after birth prenatal and postnatal growth deficiency ; and deficient or absent fatty tissue under the skin subcutaneous hallermznncausing the skin to appear abnormally thin, fragile, and streeiff.
Wiedemann-Rautenstrauch syndrome is inherited as an autosomal recessive genetic trait. Carones ; Falls and Schull ; Schanzlin et al. Early intervention is important to ensure that children with Hallermann-Streiff syndrome reach their potential.
Respiratory obstruction and cor pulmonale in the Hallermann-Streiff syndrome.
Variability of clinical signs is typical of HSS. Glossoptosis refers to downward displacement or retraction of the tongue streicf may occur secondary to abnormal smallness of the lower jaw micrognathia. Ophthalmologica, Basel, Congenital malformations and deformations of face and neck Q18 September 07, Citation: Am J Med Genet A.
Create a free personal account to make a comment, download free article PDFs, sign shreiff for alerts and more. Last Edited July 9, Comparisons may be useful for a differential diagnosis: We are determined to keep this website freely accessible.
Stdeiff fluorescein angiogram without red-free or color photography of an exceptional case diagnosed at 11 years of age showed multiple areas of choroidal leakage.
Years Published,, Diseases of ion channels. Treatment The treatment of Hallermann-Streiff syndrome is directed toward the specific symptoms that are apparent in each individual. Purchase access Subscribe now.
Macular Retinal Detachment in Hallermann-Streiff Syndrome
Despite being a rare syndrome, this syndrome has to be considered in differential diagnosis of other streivf. Nasal lipofilling has been used to treat the atrophy of the nasal skin, resulting in improvement in nasal skin color and texture. Here we discuss a case of 9 years-old female child who presented with abnormal facial features, dental problems and associated cardiac problems. Regular visits to an ophthalmologist to monitor and deal with other eye problems, some of which may require surgery, are strongly recommended.