A collection of disease information resources and questions answered by our genetic and rare diseases information specialists for hallermannstreiff. Around 150 cases have been reported in literature world wide. Hallermann streiff syndrome the oral manifestations in a child omics international. Hallermannstreiff syndrome medical definition written by. Michelle kish is a 2oyearold girl who was born with a rare genetic disorder generally known as hallerman streiff syndrome. Mental retardation is present in a minority of cases gorlin et al. Transmission is presumed to be autosomal dominant, although most cases are. We report a 12yearold female child who presented with abnormal facial features, dental abnormalities and sparse scalp hair. Hallermann streiff syndrome hss, also known as oculomandibulofacial syndrome or hallermann streiff francois syndrome, is a rare disorder that manifests characteristic skull and facial bone malformations, distinctive facial features, sparse hair, dental deformities, ocular abnormalities, facial skin atrophy, and short stature. The early diagnosis of hss is important for management because many complications, that are often life threatening, may occur early in this syndrome. New genetic aspects and particular ocular manifestations of a child. Hallermannstreiff syndrome is a rare congenital condition that also is referred to as hss or hallermann streiff fransois syndrome. Hallermann streiff syndrome hss is a syndrome including mandibulofacial anomalies described by hallermann in 1948 and by streiff in 1950 1. Hallermannstreiff syndrome wikipedia republished wiki 2.
Hallermann streiff syndrome hss is a rare genetic condition which involves multiple congenital abnormalities chiefly affecting the head and the face. Hallermann streiff syndrome is a congenital disorder that affects growth, cranial development, hair growth and dental development. Pdf hallermann streiff syndrome is a rare genetic disorder characterized primarily by head and face abnormalities. The first record of this syndrome is reported by aubry in 1893 8. The disorder was named for two eye doctors who later independently reported cases of the syndrome, recognizing it as a distinct disease entity. However, this does not imply that airway management now is easy note the small mouth and hypoplastic mandible. Toddler with hallermann streiff syndrome had undergone a previous tracheotomy scar which, with increasing age and growth, was no longer required. To view information for the laboratories offering research genetic testing for hallermannstreiff syndrome click here. The early management of a baby with hallermannstreiff.
Hallermannstreifffrancois hsf syndrome is marked by a characteristic facies with hypoplastic mandible and beaked nose, proportionate. Hallermann streiff is a very rare genetic disorder, with less than 200 cases described in medical literature. A birdlike facies, cutaneous atrophy of scalp and nose, hypoplastic nasal foramina, frontal. Radiological findings in hallermannstreiff syndrome. The disease was first discussed by aubry in the late 1800s, but it was documented as a distinct entity by hallermann in. Hallermannstreiff syndrome a case report from egypt.
It is primarily characterised by ocular abnormalities. Signs and symptoms include an unusually shaped skull. The characteristic clinical features of the syndrome are a birdlike face, mandibular. The medical community discovered it in the late 1800s. Chromosomal and clinical features in an infant with. Hallermann streiff syndrome hss is a rare condition with characteristic features that are present at birth and become more apparent over time. Streiff syndrome with severe bilateral enophthalmos and radiological evidence of silent brain syndrome. Hallermann streiff syndrome download ebook pdf, epub. The new syndrome was later defined as hallermann streiff syndrome hss, underlining the differences with regard to. Associated anomalies include a pinched nose, micrognathia, and hypertrichosis of the scalp, eyebrows, and eyelashes fig. Hallermann streiff syndrome is a rare genetic syndrome characterized mainly by head and facial abnormalities such as birdlike facies. 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. Genetic and rare diseases information center gard of national center for advancing translational sciences ncats, usa.
Research genetic tests may be used to find diseasecausing genes, learn how genes work, or aid in the. Francois dyscephaly syndrome,oculo mandibulo dyscephaly. Hallermann streiff syndrome an overview sciencedirect. The importance of early management of sight in a baby with hallermann streiff francois syndrome is described. Hallermann streiff syndrome is a rare, congenital condition characterized mainly by abnormalities of the skull and facial bones. Hallermannstreiff syndrome is characterized by a typical skull shape brachycephaly with frontal bossing, hypotrichosis, microphthalmia, cataracts, beaked nose, micrognathia, skin atrophy, dental anomalies, and proportionate short stature hallermann, 1948.
Hallermannstreiff syndrome hss is a rare genetic disorder that is primarily characterized by distinctive malformations of the skull and facial craniofacial. Currently, hallermann streiff syndrome may not be preventable, since it is a genetic disorder. Hallermann streiff syndrome is characterized by a typical skull shape brachycephaly with frontal bossing, hypotrichosis, microphthalmia, cataracts, beaked. A familial study of hallermannstreifffrancois syndrome e epee,1 d beleho,2 at. Hallermann streiff syndrome is a very rare disorder. The hallermann streiff syndrome is characterized by dyscephaly, hypotrichosis, microphthalmia, cataracts, beaked nose, micrognathia, and proportionate short stature. The hallermann streiff syndrome 22,23 is a rare syndrome, or perhaps a rare family of closely related syndromes, that consists of microphthalmia, cataracts, blue sclerae, and nystagmus.
A relative lack of dental literature regarding this syndrome has been noted. 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. This syndrome include vision impairments, hearing deficit, chronic pulmonary lung disease etc. Transmission is presumed to be autosomal dominant, although most cases are thought. Hallermann streiff syndrome hss is a rare condition with characteristic. Other features include poor vision and a small upper airway. Although familial cases have been reported in low numbers, hss often presents with sporadic mutations 2, 3. Hallermann syndrome hs or hallermann streiff syndrome also called francois dyscephalic syndrome is a rare disease with characteristic craniofacial abnormalities. Cardinal features include craniofacial dysmorphia and upper airway abnormalities. Common ocular manifestations include microphthalmia, bilateral congenital cataracts with spontaneous rupture and reabsorption, blue sclera and iris atrophy. Hallermannstreiff syndrome hss is a rare disorder characterized primarily by head and face abnormalities, with dental abnormalities also present in 5080 percent of cases.
Clinically, patients with hallermann streiff syndrome show typical craniofacial dysmorphism, eye malformations, a distinctive facial appearance, abnormalities of hair and skin, short stature, and, interestingly, they might also present with aspects of premature aging. Research genetic tests may be used to find diseasecausing. Streiff syndrome hss is a rare disorder with an associated constellation of radiological findings that may aid in the. An organization supporting people with hallermann streiff syndrome is. The underlying cause of hallermann streiff is unknown. Editor, hallermann streiff syndrome hss is a disorder of unknown origin rarely diagnosed in neonatal period. Instead of worrying about the future, she just takes it one day at a time.
The etiology of hallermann streiff syndrome has not yet been established, as most cases have occurred as sporadic events. Hallermann streiff syndrome hss is a rare inherited disorder characterized by malformations of the cranium and facial bones, congenital. The hallermann streiff syndrome hss is a rare congenital disorder characterized by distinctive craniofacial malformations and significant orodental abnormalities. 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. Hallermann streiff syndrome hss is a rare genetic disorder that is primarily characterized by distinctive malformations of the skull and facial region, sparse hair. Signs and symptoms or characteristics of this condition are a short stature. Hallermann streiff syndrome hss is a very rare genetic disorder that has a characteristic facial appearance, dental abnormalities, hypotrichosis, skin atrophy, proportionate short stature, and ophthalmic features such as microphthalmia and congenital bilateral cataracts. Hallermann streiff syndrome nibedita mitra, n kannan keywords. Hallermannstreiff syndrome genetic and rare diseases nih. There are fewer than people with the syndrome worldwide. Almost all reported cases of the condition appear to have occurred.
Intellectual disability is present in some individuals. Click download or read online button to get hallermann streiff syndrome book now. Hallermann streiff syndrome is a disorder characterized by brachycephaly with frontal bossing, birdlike facial structure beaked nose and micrognathia, dental defects, hypotrichosis, and diminished, but proportional, stature. Familial hallermannstreiff syndrome dove medical press. Michelle is one of only a few hundred people ever known to have hallerman streiff syndrome.
Hallermannstreiff syndrome genetic and rare diseases. The most prominent are brachycephaly and pinched nose, giving the face a birdlike look. While we are not aware of clinical genetic testing for hallermannstreiff syndrome, genetests lists laboratories offering research genetic testing for this condition. Most cases of hallermann streiff syndrome occur randomly for unknown reasons and may be the result of mutations, or changes to the genetic material. She is the firstborn child to parents of nonconsanguinous marriage, delivered after two years of marriage. Hallermann in 1948 and streiff in 1950 described patients characterized by bird face, congenital cataract, mandibular hypoplasia, and dental abnormalities. There are fewer than 200 people with the syndrome worldwide. A twentydayold neonate was referred to our hospital for feeding difficulty and noisy respiration. Michelle kish a girl suffering with rare genetic disorder. Hallermann streiff syndrome associated with sclerocornea, aniridia, and a chromosomal abnormality. This site is like a library, use search box in the widget to get ebook that you want. Pdf hallermannstreiff syndrome hss is a rare disorder characterized by dyscephalia, with facial and dental abnormalities.
Hallermann streiff syndrome nord national organization. Hallermannstreiff syndrome hss is a rare disorder characterized by dyscephalia, with facial and dental abnormalities. Life with one of the worlds rarest syndromes hallerman. Hallermann streiff syndromethe oral manifestations in a child. Hallermannstreifffrancois syndrome, familial cataract, dysmorphic features, rare, cameroon. Hallermann streiff syndrome gets its name from wilhelm hallermann and enrico streiff, the men who made the first reports about patients with the condition. This case report describes the ophthalmologic features of a fouryearold child with hallermann streiff syndrome hss presenting also with a condition very similar to the socalled silent brain syndrome sbs, with severe bilateral enophthalmos, bridging of all the tarsal plates off the ocular surface, and secondary upper eyelid entropion, retraction, and lagophthalmos. Patients with this syndrome are shorter than the average person and may not develop hair in many places, including in the facial, leg and pubic areas.
856 1161 660 200 1205 663 62 789 259 523 40 1377 1046 508 1125 706 1179 456 1319 1435 174 165 399 1089 61 1332 9 1150 1172 87