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.

Author: Faezuru Vudoktilar
Country: Montserrat
Language: English (Spanish)
Genre: Literature
Published (Last): 22 January 2015
Pages: 382
PDF File Size: 20.20 Mb
ePub File Size: 4.21 Mb
ISBN: 744-7-31779-445-8
Downloads: 69037
Price: Free* [*Free Regsitration Required]
Uploader: Faezragore

Arthrogryposis Larsen syndrome Rapadilino syndrome. Report of a Case. Affected Populations Hallermann-Streiff syndrome appears to affect males and females in relatively equal numbers. Diagnosis Hallermann-Streiff syndrome may be suspected shortly after birth or during the first year of life by the identification of characteristic physical findings and symptoms.

They regarded the condition as a severe and lethal form of HSS. Respiratory obstruction and cor pulmonale in the Hallermann-Streiff syndrome. Ophthalmologic manifestations of Hallermann-Streiff-Francois syndrome: Early detection and management of retinal detachment in other patients having Hallermann-Streiff syndrome offer the chance of improved visual function. Two cases in which the chromosomes were studied. Further investigation is needed regarding the frequency of spontaneous cataract absorption and optimal treatment approaches.

Information on current clinical trials is posted on the Internet at https: The overall findings suggested Hallermen Streiff syndrome and full mouth rehabilitation was planned. Here we discuss a case of 9 years-old female child who presented with abnormal facial features, dental problems and associated cardiac problems.

Halleermann addition, in rare cases, various structural heart malformations congenital heart defects have been reported. Hallermann-Streiff syndrome was first described by Charles Aubry in 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 ].


Handa, MD ; et al Michael X. Together we are strong. Madelung’s deformity Clinodactyly Oligodactyly Polydactyly. The Johns Hopkins University. Nine years old female child visited the outpatient department of pediatric dentistry with complain of multiple carious teeth which were asymptomatic.

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. These include the absence of I auricular anomalies, II palpebral anomalies, III premature arteriosclerosisarthrosis, deformities of joints, muscular atrophy, IV nail and extremity anomalies, and V mental retardation [ 2 ].

From families with an affected child, there is little evidence for this being a recessively inherited disorder in which both parents are carriers normal looking but carry the mutation.

Forsius and de la Chapelle found normal chromosomes in 2 cases. Mental retardation is present in a minority of cases Gorlin et al.

Most individuals with HSS have ocular abnormalities. Hutchinson-Gilford progeria syndrome is due to a de novo heterozygous mutation in the lamin A gene LMNA on chromosome 1q Clinical Variability Dennis et al.

Examination of the face revealed frontal bossing, small and thin face, beaked nose with atrophy of skin near nose Figure 3,4. B, The left fundus had a similar appearance with less vascular engorgement and possible pigment epithelial detachment along the superotemporal vascular arcade.

In some cases, the head may also be relatively small microcephaly and the cheekbones may be underdeveloped malar hypoplasia. About News Events Contact.

Hallermann Streiff Syndrome-The Oral Manifestations in a Child | OMICS International

Other treatment is symptomatic and supportive. The disorder was named for two eye doctors who later independently reported cases of the syndrome, recognizing it as a distinct disease entity.


Most infants and children with Wiedemann-Rautenstrauch syndrome have unusually thin arms ballermann legs; abnormally large hands and feet; progressive neurological and neuromuscular abnormalities; varying synndrome of intellectual disability; and severe delays in the acquisition of skills requiring the coordination of mental and muscular activities psychomotor retardation. It is a rare clinical entity of unknown etiology that affects growth, cranial development, hair growth, and dental development [ 4 ].

Detailed information Professionals Anesthesia guidelines Englishpdf.

Hallermann–Streiff syndrome

However, apart from their role in mastication chewingteeth are also important halkermann 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 strdiff lower jaw micrognathia.

Vogelgesicht und cataracta congenita. A typical Hallermann-Streiff-Francois syndrome in three successive generations. Due to such changes, the skin in these regions may appear unusually taut and thin, and regional blood vessels may seem unusually pronounced.

Please consider making a donation now and again in the future. A dyscephaly with congenital cataracts and hypotrichosis. Treatment The treatment of Hallermann-Streiff syndrome is directed toward the specific symptoms that are apparent in each individual. CC HPO: For information about clinical trials sponsored by private sources, contact: It is most likely due to a de novo mutation[6] and it may be associated with the GJA1 gene.

Sur deux cas de syndrome dyscephalique a tete d’oiseau. Males and females are equally affected. Some current clinical trials also are posted on the following page on the NORD website: August 31, ; Published date: Preauricular sinus and cyst.