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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Infobox medical condition new All articles with unsourced statements Articles with unsourced statements from May However, the father was married to a distant relative; hence, this may have been an instance of pseudodominance. According to reports in the medical literature, the cataracts, which consist of whitish, milky lens masses, strriff gradually spontaneously resolve spontaneous cataract absorption in some cases.

Syndromes of the Head and Neck.

Tracheomalacia in Hallermann-Streiff syndrome. Handa, MD ; et al Michael X. In addition, during the first year or two of life, scalp hair, eyebrows, and eyelashes may become sparse, and veins of the scalp may become unusually prominent.

In addition, many people with this syndrome have very sparse hair hypotrichosisparticularly of the scalp, eyelashes, eyebrows, beard, pubic hair, and hair under the arms. Views Read Edit View history. Both of monozygotic stdeiff were affected in the report of Van Balen 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 ].

The orodental abnormalities in the present case confirmed by radiographic examination were in the form of severely carious hypoplastic teeth, missing permanent teeth, persistent deciduous teeth, bilateral hypoplastic condyles and coronoid processes.

Radiological findings in Hallermann-Streiff syndrome: Syndrome de Francois a propos de 5 observations. Interdisciplinary approach has to be undertaken synrrome the benefit of the patient. Hallermann-Streiff syndrome associated with complete agenesis of the corpus callosum.


Early preventive care protocols, detailed oral hygiene instructions, gallermann regular dental visits are essential for patients with this syndrome. She was small for her week gestational age. This is an open-access article distributed under the terms of the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original author and source are credited.

The Strwiff Hopkins University. Hallermann-Streiff syndrome is characterized by a typical skull shape brachycephaly with frontal bossinghypotrichosis, microphthalmia, cataracts, beaked nose, micrognathia, skin atrophy, dental anomalies, hallerann proportionate short stature Hallermann, ; Streiff, ; Francois, Cleft Palate Craniofac J.

Mirshekari and Safar described a year-old woman with Hallermann-Streiff syndrome. Genetic counseling may also be of benefit for affected individuals and their families.

Vogelgesicht und Cataracta congenita. Some eye experts suggest corneal stromal opacities, which are ill defined and bilateral with clear stroma between the opacities might be a hallmark feature of hallsrmann condition. Purchase access Subscribe now. Agri and Aquaculture Journals Dr.

Rare Disease Database

The Causes of Blindness in Childhood. Dyscephaly with microphthalmos, cataract and hypoplasia of the mandible. The most common ocular finding is clouding opacity of the lenses of both eyes at birth streifff bilateral cataracts. A proposito de una presentacion familiar. A typical Hallermann-Streiff-Francois syndrome in three successive generations.

We need long-term secure funding to provide you the information that you need at your fingertips. Neonatal teeth may be present.

Congenital cataracts with unusually small eyes microphthalmia are important findings for the initial diagnosis of Hallermann-Streiff syndrome, but other disorders must be considered as part of the differential diagnosis, and this is best accomplished through whole exome sequencing given the extensive differential diagnosis, which includes a number of autosomal recessive disorders. As a result of these small deeply-seated eyes, patients may appear to have small, droopy eyelids blepharoptosis. Comparisons may be useful for a differential diagnosis: Purchase access Subscribe to JN Learning for one year.


Guidelines Upcoming Special Issues. In addition, there have also been reports in which respiratory insufficiency e. 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. Hallermann—Streiff syndrome Branchial cleft cyst. Create a free personal account to download free article PDFs, sign up for alerts, and more.

Five negative signs were also described by Francois as differential diagnostic criteria for HSS. Madelung’s deformity Clinodactyly Oligodactyly Polydactyly. 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. Government funding, and some supported by private industry, are posted on this government website.

Orphanet: Hallermann Streiff syndrome

Robinow also emphasized hallermwnn risks of problems with upper airway obstruction in HSS, particularly in the neonatal period and in infancy. More than cases have been reported in the medical literature.

There was extensive subretinal fluid in the posterior pole, inferior retinal steriff, fine yellow subretinal deposits in the papulomacular bundle, and subretinal fibrotic bands under the detached retina.

AQP2 Nephrogenic diabetes insipidus 2. Information on current clinical trials is posted on the Internet at https: Adyanthaya, MD ; Howard S. Introduction Hallermann-Streiff syndrome was first described in the medical literature in From Wikipedia, the free encyclopedia.