Atypical hallermannstreifffrancois syndrome in three. Hallermannstreiff syndrome is a rare genetic disorder. Jun 18, 2019 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 was independently described by hallermann in 1948 and streiff in 1950. 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. Hallermann streiff syndrome is listed as a rare disease by the office of rare diseases ord of the national institutes of health nih.
Francois dyscephaly syndrome, oculomandibular dyscephaly disease summary. 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. This means that hallermann streiff syndrome, or a subtype of hallermann streiff syndrome, affects less than 200,000 people in the us population. Hallermannstreiff syndrome was first described by charles aubry in 1893. Anatomic abnormalitles may render both intubation and tracheotomy unusually difficult. Michelle is diagnosed with hallermannstreiff syndrome and is literally one in five million. 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.
Hallermannstreiff syndrome is characterized by a typical skull shape brachycephaly with frontal bossing, hypotrichosis, microphthalmia, cataracts, beaked. Gungor oe, nur bg, yalcin h, karayilmaz h, mihci e 2015 comprehensive dental management in a hallermann streiff syndrome patient. It was first described by hallermann in 1948 and later by streiff in 1950. Francois dyscephaly syndrome,oculo mandibulo dyscephaly. Hallermannstreiff syndrome, also known as francois dyscephaly syndrome, hallermannstreifffrancois syndrome, oculomandibulodyscephaly with hypotrichosis, and oculomandibulofacial syndrome1. Cardinal features include craniofacial dysmorphia and upper airway abnormalities. Further contribution to the study of hallermann and. The disorder was named for two eye doctors who later independently reported cases of the syndrome, recognizing it as a distinct disease entity. Hallermannstreiff syndrome hss is a rare disorder that is primarily characterized by distinctive malformations of the skull and facial craniofacial region.
Dec 11, 2019 hallermann streiff syndrome hss is a rare genetic disorder that is primarily characterized by distinctive malformations of the skull and facial region, sparse hair. Hallermannstreifffrancois syndrome is a rare genetic disorder characterized by distinct craniofacial abnormalities. Hallermann streiff syndrome an overview sciencedirect. Hallermannstreiff syndrome oculomandibulodyscephaly with hypotrichosis or. In spite of the clinical similarities of these diseases, a clear roentgen differentiation can be made. This syndrome is considered to be the result of some intra.
Hallermannstreiff syndrome hss is a rare disorder characterized by dyscephalia, with facial and dental abnormalities. Hallermannstreiff syndrome is a congenital disorder that affects growth, cranial development, hair growth and dental development. Two cases, one of the oculodentodigital syndrome, the other of the hallermannstreiff syndrome, will be reported with emphasis on the roentgen features in infancy. Hallermann streiff syndrome hss is a rare genetic condition which involves multiple congenital abnormalities chiefly affecting the head and the face. These signs are dyscephalia and bird face, dental abnormalities, proportionate short stature, hypotrichosis, atrophy of skin especially on nose, bilateral microphthalmos, and. Acaucasianmalebornat terminjune, i967, after anormalpregnancy, weighed4lb. Jun 20, 2019 hallermann streiff syndrome pdf admin june 20, 2019 0 comments hallermannstreiff syndrome hss is a rare disorder that is primarily characterized by distinctive malformations of the skull and facial craniofacial region. Signs and symptoms or characteristics of this condition are a short stature. This means that hallermannstreiff syndrome, or a subtype of hallermannstreiff syndrome, affects less than 200,000 people in the us population.
Anesthetic management of a patient with hallermannstreiff syndrome. Hallermann streiff syndrome is characterized by a typical skull shape brachycephaly with frontal bossing, hypotrichosis, microphthalmia, cataracts, beaked. Hallermann streiff syndrome is a rare, congenital condition characterized mainly by abnormalities of the skull and facial bones. The hallermannstreiff syndrome hss is a rare congenital disorder characterized by distinctive craniofacial malformations and significant orodental abnormalities. Airway management in hallermannstreiff syndrome sciencedirect. These signs are dyscephalia and bird face, dental abnormalities, proportionate short stature, hypotrichosis, atrophy of skin especially on nose, bilateral microphthalmos, and congenital cataract. Seven essential signs described by francois as diagnostic criteria for hss. Hallermannstreiff syndrome symptoms, diagnosis, treatments. Pdf hallermann streiff syndrome hss is a rare disorder characterized by dyscephalia, with facial and dental abnormalities. No metabolic or chromosomal defect could be demonstrated in this patient.
The hallermann streiff syndrome hss is a rare congenital disorder characterized by distinctive craniofacial malformations and significant orodental abnormalities. Does any member of your family have hallermann streiff syndrome or may be more predisposed to developing the condition. Transmission is presumed to be autosomal dominant, although most cases are. Hallermannstreiff syndrome was independently described by hallermann in 1948 and streiff in 1950. Macular retinal detachment in hallermannstreiff syndrome. We report the case of a patient with hallermannstreifffrancois syndrome, with typical. Jain v, sethi u, dua s, ahuja a, wali bg 2011 hallermannstreiff syndrome. Apr 10, 2020 hallermann streiff syndrome hss is a rare condition with characteristic features that are present at birth and become more apparent over time.
The hallermannstreiff 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. Hallermann 1948 and streiff 1950 reported patients with dyscephaly, a birdlike face, congenital cataracts, and microphthalmia. These signs are 1 dyscephalia and birdlike facies, 2 dental abnormalities, 3 proportionate short stature, 4 atrophy of skin especially on the nose, 5. Hallermann streiff is a rare syndrome characterized by multiple congenital anomalies, especially in the head and face. Editor,hallermannstreiff syndrome hss is a disorder of unknown origin rarely diagnosed in neonatal period. Hallermannstreiff syndrome may be suspected shortly after birth or during the first year of life by the identification of characteristic physical findings and symptoms. Hallermannstreiff syndrome is a very rare disorder. Jul 02, 2019 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 syndromethe oral manifestations in a child. The early diagnosis of hss is important for management because many complications, that are often life threatening, may occur early in this syndrome. The most characteristic feature is the peculiar bird. Hallermann streiff syndrome was first described in the medical literature in 1893. Hallermann streiff syndrome is characterized by a typical skull shape brachycephaly with frontal bossing, hypotrichosis, microphthalmia, cataracts, beaked nose. Hallermannstreiff syndrome and other craniofacial anomalies predispose patients toairway emergencies.
Chromosomal and clinical features in an infant with. A patient with the hallermann streiff syndrome showed significant findings, including demonstration of decreased thoracic compliance and a marked response of growth hormone to arginine stimulation. Signs and symptoms include an unusually shaped skull, distinctive facial features, thin skin and hair, and eye and dental abnormalities. Hallermannstreiff syndrome is a rare genetic disorder characterized primarily by head and face abnormalities. Hallermannstreiff syndrome fewer than 200 known cases. The medical community discovered it in the late 1800s. May 06, 2020 hallermann streiff syndrome gets its name from wilhelm hallermann and enrico streiff, the men who made the first reports about patients with the condition. Mental retardation is present in a minority of cases gorlin et al. Hallermannstreiff syndrome hss is a rare genetic condition which involves multiple congenital abnormalities chiefly affecting the head and the face. 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. Other features include poor vision, a small upper airway, and short stature.
Hallermann streiff syndrome is a rare genetic disorder characterized by craniofacial malformations, sparse hair, eye abnormalities, dental defects, degenerative skin changes, and short stature. Clinically, patients with hallermannstreiff 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. Intellectual disability is present in some individuals. The early management of a baby with hallermannstreiff. Hallermann streiff syndrome hss is a rare, congenital condition characterized mainly by abnormalities of the skull and facial bones. Full text a familial study of hallermannstreifffrancois. Hallermann streiff syndrome, also known as francois dyscephaly syndrome, hallermann streiff francois syndrome, oculomandibulodyscephaly with hypotrichosis, and oculomandibulofacial syndrome1. Dental features were discussed by caspersen and warburg 1968 steele and bass 1970 emphasized the lack of. Hallermannstreiff syndrome hss is a rare disorder characterized primarily by head and face abnormalities, with dental abnormalities also present in 5080 percent of cases. Feb 28, 2017 michelle is diagnosed with hallermann streiff syndrome and is literally one in five million. Hallermanstrieff syndrome hss, occulomandibulodyscephaly was first described completely in 1948 by hallermann and then in 1950 by streiff. Hallermann streiff syndrome gets its name from wilhelm hallermann and enrico streiff, the men who made the first reports about patients with the condition. Hallermannstreiff syndrome genetic and rare diseases.
Hallermann streiff syndrome is a rare genetic disorder characterized primarily by head and face abnormalities. Hallermann streiff syndrome and other craniofacial anomalies predispose patients toairway emergencies. There are fewer than 200 people with the syndrome worldwide. Around 150 cases have been reported in literature world wide. The diagnosis may be confirmed by thorough clinical evaluation. What is the life expectancy of someone with hallermann. Two cases, one of the oculodentodigital syndrome, the other of the hallermann streiff syndrome, will be reported with emphasis on the roentgen features in infancy. Associated anomalies include a pinched nose, micrognathia, and hypertrichosis of the scalp, eyebrows, and eyelashes fig. Hallermann streiff syndrome is a rare genetic disorder. Sep 07, 2018 hallermann streiff syndrome is a rare congenital condition that also is referred to as hss or hallermann streiff fransois syndrome. Hallermannstreiff syndrome hss is a rare, congenital condition characterized mainly by abnormalities of the skull and facial bones.
Therewasnofamily history ofhereditarydisorder andthe unrelated parents, who. She hopes to one day meet a longhaired man who is in touch with his emotions. Hallermann streiff syndrome nord national organization for. Full text a familial study of hallermannstreifffrancois syn imcrj. The hallermanstreifffrancois syndrome hsf,1 also called mandibulooculofacial dyscephaly, is a relatively rare syndrome, involving mainly the face, eyes, and. Hallermann streiff syndrome an overview sciencedirect topics. Hallermannstreiff syndrome hss is a rare genetic disorder that is primarily characterized by distinctive malformations of the skull and facial region, sparse hair. It is important for the otolaryngologist to be familiar with the special difficulties and hazards associated with these malformations in order to ensure. Gungor oe, nur bg, yalcin h, karayilmaz h, mihci e 2015 comprehensive dental management in a hallermannstreiff syndrome patient. A patient with the hallermannstreiff syndrome showed significant findings, including demonstration of decreased thoracic compliance and a marked response. A familial study of hallermannstreifffrancois syndrome e epee,1 d beleho,2 at. 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. Hallermannstreiff is a rare syndrome characterized by multiple congenital anomalies, especially in the head and face.
Dyscephalia mandibulooculofacialis hallermann streiff syndrome. Hallermann streiff syndrome is a very rare disorder. Pdf the hallermannstreiff syndrome hss is a rare congenital disorder characterized by distinctive craniofacial malformations and. Here you can see if hallermann streiff syndrome can be hereditary. According to the 2010 united states census, streiff is the 26814 th most common surname in the united states, belonging to 907 individuals. Jain v, sethi u, dua s, ahuja a, wali bg 2011 hallermann streiff syndrome. These signs are 1 dyscephalia and birdlike facies, 2 dental abnormalities, 3 proportionate short stature. Hallermannstreifffrancois hsf syndrome is marked by a characteristic facies with hypoplastic mandible and beaked nose, proportionate. Hallermannstreiff syndrome is a rare, congenital condition characterized mainly by abnormalities of the skull and facial bones. Roentgen differentiation of the oculodentodigital syndrome.
Francois 1958 identified similar reported cases with the additional features of hypotrichosis, skin atrophy, dental anomalies, and short stature. Dyscephalia mandibulooculofacialis hallermannstreiff syndrome. Hallermannstreiff syndrome is listed as a rare disease by the office of rare diseases ord of the national institutes of health nih. The syndrome is characterized by proportionate short stature and craniofacial dysostoses consisting of skeletal, ophthalmologic, and cutaneous defects. A relative lack of dental literature regarding this syndrome has been noted. Hallermannstreiff syndrome hss is a rare condition with characteristic features that are present at birth and become more apparent over time.
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