Hallermannstreiff syndrome genetic and rare diseases nih. Hallermannstreiff syndrome genetic and rare diseases. Early detection and management of retinal detachment in other patients having hallermann streiff syndrome offer the chance of. Hallermannstreiff syndrome is a rare genetic syndrome characterized mainly by head and facial abnormalities such as birdlike facies with. Radiological findings in hallermann streiff syndrome. Brock is diagnosed with hallermann streiff syndrome and is literally 1 in 50 million. Hallermann streiff syndrome nord national organization. Hallermann 1948 and streiff 1950 reported patients with dyscephaly, a birdlike face, congenital cataracts, and microphthalmia. Hallermann streiff syndrome hss is a rare disorder characterized primarily by head and face abnormalities, with dental abnormalities also present in 5080 percent of cases.
Chromosomal and clinical features in an infant with. 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 a congenital disorder that affects growth, cranial development, hair growth and dental development. The presence of natal teeth in this syndrome, do not permit effective feeding. Francois dyscephaly syndrome,oculo mandibulo dyscephaly. Hallermannstreiff syndrome hss is a rare congenital disorder that mainly. Hallermann streiff syndrome hss is a rare inherited disorder characterized by malformations of the cranium and facial bones, congenital cataracts, microphthalmia, skin atrophy, hypotrichosis, proportionate short stature, teeth abnormalities, and a typical facial appearance with prominent forehead, small pointed nose, and micrognathia. The early diagnosis of hss is important for management because many complications, that are often life threatening, may occur early in this syndrome. Pubmed is a searchable database of medical literature and lists journal articles that discuss hallermann streiff syndrome. Syndrom, acta ophthalmologica on deepdyve, the largest online rental service for scholarly research with thousands of academic publications available at your fingertips. The most characteristic feature is the peculiar bird. A collection of disease information resources and questions answered by our genetic and rare diseases information specialists for hallermannstreiff. For language access assistance, contact the ncats public information officer. Hallermann streiff syndrome is characterized by a typical skull shape brachycephaly with frontal bossing, hypotrichosis, microphthalmia, cataracts, beaked.
Hallermann streiff syndrome with severe bilateral enophthalmos and radiological evidence of silent brain syndrome. Genetic and rare diseases information center gard po box 8126, gaithersburg, md 208988126 toll free. Christian cl, lachman rs, aylsworth as, fujimoto a, gorlin rj, lipson mh, graham jm. Cardinal features of this syndrome are dyscephaly with bird facies, frontalparietal bossing, dehiscence of sutures with open fontanellae, hypotrichosis of scalp, eye brows and eye.
Bisphosphonate treatment of bone fibrous dysplaia in mccunealbright syndrome, r. Editor, hallermann streiff syndrome hss is a disorder of unknown origin rarely diagnosed in neonatal period. Approximately 150 cases have been reported, including 6 cases in korea. Periodic paralysis pp is classified as hypokalemic when episodes occur in association with low potassium blood levels or as hyperkalemic when episodes can. Article information, pdf download for diagnosis and innovative. Hallermannstreiff syndrome hss is a rare disorder characterized by dyscephalia, with facial and dental abnormalities. Brock the star hes literally 1 in 50 million youtube. Dental features were discussed by caspersen and warburg 1968 steele and bass 1970 emphasized the lack of. Hallermannstreiff syndrome is a congenital disorder that affects growth, cranial development. Hallermannstreiff syndrome hss is a rare inherited disorder characterized by malformations of the cranium and facial bones, congenital cataracts, microphthalmia, skin atrophy, hypotrichosis, proportionate short stature, teeth abnormalities, and a typical facial appearance with prominent forehead, small pointed nose, and micrognathia. No metabolic or chromosomal defect could be demonstrated in this patient.
There are fewer than 200 people with the syndrome worldwide. An upper eyelid retractor free recession was performed. Hallermannstreiff syndrome hss is a rare disorder characterized by dyscephalia. Indeed, early genioplasty and dental implantation before growth completion were performed. Click on the link to view a sample search on this topic. Hallermann streiff syndrome hss is a rare genetic disorder that is primarily characterized by distinctive malformations of the skull and facial region, sparse hair. We report a 12yearold female child who presented with abnormal facial features, dental abnormalities and sparse scalp hair. Introduccion hallerma n en 1948 streiff en 1950 francois en 1958audry en 1893 3.
The patient exhibited six of the seven signs of hss. Hallermannstreiff syndrome thomas j, ragavi b s, raneesha p k. Inside he is just a normal kid who wants to play with his friends and have pretend pirate battles. Psychomotor development is usually normal, but exceptions do. If you have problems viewing pdf files, download the latest version of adobe reader. The overall findings suggested hallermen streiff syndrome and full mouth rehabilitation was planned. Pdf a case of hallermannstreiff syndrome with aphakia. Diagnosis and innovative multidisciplinary management of. A patient with the hallermannstreiff syndrome showed significant findings, including demonstration of decreased thoracic compliance and a marked response of growth hormone to arginine stimulation. Francois 1958 identified similar reported cases with the additional features of hypotrichosis, skin atrophy, dental anomalies, and short stature.