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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OMIM Entry – % – HALLERMANN-STREIFF SYNDROME; HSS
Further investigation is needed regarding the frequency of spontaneous cataract absorption and optimal treatment approaches. Diagnosis is based on the physical characteristics and symptoms. Hallermann-Streiff syndrome associated with complete agenesis of the corpus callosum. Tracheomalacia in Hallermann-Streiff syndrome. Radiologic findings in 5 cases and in the literature were reviewed by Christian et al. Furthermore, her mother and a sister also had congenital cataracts.
Treatments centre around the sstreiff symptoms in each individual.
They regarded the condition as a severe and lethal form of HSS. Skull and face Craniosynostosis: Recommended disease management may also include surgical reconstruction of certain craniofacial malformations particularly the mandibular and nasal region at the appropriate age.
This patient exhibited hypotrichosis, dyscephalia, birdlike facies, and atrophy of skin especially on the noseconsistent with Hallermann-Streiff syndrome also known as oculomandibulofacial syndrome. Create a free personal account to download free article PDFs, sign up for alerts, and more. In addition, in rare cases, various structural heart malformations congenital heart defects have been reported.
It is a rare clinical entity of unknown etiology that affects growth, cranial development, hair growth, and dental development [ 4 ]. Additional information Further information on this disease Classification s 6 Gene s 0 Clinical signs and symptoms Other website s 5. Adyanthaya, MD ; Howard S. Ann Jose ankara escort. Whenever possible every effort should be made to preserve these prematurely erupted deciduous baby teeth to facilitate future nutritional intake and prevent unfavorable sequelae, until the existence of successional permanent teeth can be confirmed.
Introduction Hallermann-Streiff syndrome was first described in the medical literature in Dennis Fairhurst Moore s The most common ocular finding is clouding opacity of the lenses of both eyes at birth congenital bilateral cataracts.
Am J Med Genet A. Seckel syndrome inherited as an autosomal recessive genetic trait due to homozygous or compound heterozygous mutation in the ATR gene on chromosome 3q OMIM is intended for use primarily by physicians and other professionals concerned with genetic disorders, by genetics researchers, and by advanced students in science and medicine.
Hallermann-Streiff syndrome is characterized by a typical skull shape brachycephaly with frontal bossinghypotrichosis, microphthalmia, cataracts, beaked nose, micrognathia, skin atrophy, dental anomalies, and proportionate short stature Hallermann, ; Streiff, ; Francois, 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.
Hallermann Streiff Syndrome-The Oral Manifestations in a Child | OMICS International
The mother reported of the child having cardiac problem ventricular septal defect for which surgery had been performed. Arthrogryposis Larsen syndrome Rapadilino syndrome. Among children who present with synddrome and bilateral congenital cataracts with small eyes, one should also consider MICRO syndrome, a rare autosomal recessive disorder characterized by microcephaly, microphthalmia, microcornea, congenital cataracts, optic atrophy, corpus callosum hypoplasia, severe intellectual disability, spastic diplegia, and hypogonadism.
A 1-week-old girl of European descent was initially seen with bilateral cataracts. Mirshekari and Safar described a year-old woman with Hallermann-Streiff syndrome.
Hironao N, et al. Treatment The treatment of Hallermann-Streiff syndrome is directed toward the specific symptoms that are apparent in each individual. AQP2 Nephrogenic diabetes insipidus 2. 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 in the scalp and nasal regions; and proportionate short stature.
A bonus to all MIMmatch users is the option to sign up for updates on new gene-phenotype relationships. Symptoms of the following disorders can be similar to those of Hallermann-Streiff sstreiff.
Nara Sobreira – updated: Generalized odontodysplasia in a 5-year-old patient with Hallermann-Streiff syndrome: Hallermann and Streiff reported patients with dyscephaly, a ‘bird-like’ face, congenital cataracts, and microphthalmia. Early measures are based around ensuring proper breathing and intake of nutrients and may include a tracheostomy.
It has been suggested that the syndrome might be caused by biallelic variants in POLR3A, identified by exome sequencing in a single patient only. Our case had the classical signs of HSS as well as the striking orodental features. Hllermann addition, affected infants and children are prone to repeated respiratory infections that may result in life-threatening complications.
Rare Disease Database
The genetic cause of Hallermann—Streiff syndrome has not been conclusively determined. Guidelines Upcoming Special Issues. Register for email alerts with links to free full-text articles Access PDFs of free articles Manage your interests Save searches and receive search alerts.