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.

Author: Arashirr Akiran
Country: Hungary
Language: English (Spanish)
Genre: Health and Food
Published (Last): 4 November 2013
Pages: 85
PDF File Size: 12.63 Mb
ePub File Size: 5.86 Mb
ISBN: 348-8-17989-710-7
Downloads: 19634
Price: Free* [*Free Regsitration Required]
Uploader: JoJogore

In addition, in rare cases, various structural heart malformations congenital heart defects have been reported. In most cases, children with this disorder have normal intelligence; however, intellectual disability has been reported in approximately 15 percent of cases.

Hallermann Streiff Syndrome-The Oral Manifestations in a Child

Patients also have eye problems including reduced eye sizebilateral cataracts [2] and glaucoma. September 07, Citation: It has been suggested that the syndrome might be caused by biallelic variants in POLR3A, identified by exome sequencing in a single patient only.

Create a free personal account to make a comment, download free article PDFs, strieff up for alerts and more. Francois quoted data indicating a normal sex ratio 42 males, 46 females and a high frequency of parental consanguinity.

Treatment of the nasal abnormalities of Hallermann-Streiff syndrome by lipofilling. Dyscephaly scaphocephaly or brachycephaly with frontal bossing and typical facies micrognathia, condylar aplasiaand thin pointed nose ; dental anomalies; proportionate nanism; hypotrichosis; atrophy of the skin localized to the head and nose; bilateral microphthalmia; and congenital cataracts.

Macular Retinal Detachment in Hallermann-Streiff Syndrome

In most cases, affected individuals develop premature, widespread thickening and loss of elasticity of arterial walls arteriosclerosispotentially resulting in life-threatening complications. Nine years old female child visited the outpatient department of pediatric dentistry streoff complain of multiple carious teeth which were asymptomatic.


Select your language of interest to view the total content in your interested language. In addition, affected infants and children are prone to repeated respiratory infections that may result in life-threatening complications.

Our main objective here is to report a case of HSS in 9 years old ssyndrome child with physical and oral features consistent with the syndrome as well as detection of mutism in this child which has not been reported earlier in cases of HSS. In many cases, additional abnormalities are also present.

J Clin Pediatr Dent. Create a free personal hallermann to access your subscriptions, sign up for alerts, and more. He knew of 2 instances of concordant monozygotic twins and at least 10 families with 2 or more cases.

Hallermann–Streiff syndrome – Wikipedia

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 ]. Such congenital heart defects have included an abnormal opening in the partition septum that separates the lower or upper chambers of the heart ventricular or atrial septal defects or abnormal narrowing of the opening between the pulmonary artery and the right ventricle of the heart pulmonary stenosis.

These may include the eruption of teeth before or shortly after birth natal or neonatal teethwhich may be misdiagnosed as supernumerary teeth.


Hallermann and Streiff reported patients with dyscephaly, a ‘bird-like’ face, congenital cataracts, and microphthalmia.

By using this site, you agree to the Terms of Use and Privacy Policy. Hallermann-Streiff syndrome was first described by Streifv Aubry in A report of a case. Congenital heart defect in a patient with the Hallermann-Streiff syndrome.

Seckel syndrome inherited as an autosomal recessive genetic trait due to homozygous or compound heterozygous mutation in the ATR gene on chromosome 3q While the OMIM database is open to the public, users seeking information about a personal medical or genetic condition are urged to consult with a qualified physician for diagnosis and for answers to personal questions.

Most cases of Hallermann-Streiff syndrome are sporadic. Comparisons may be useful for a differential diagnosis:. These signs are 1 dyscephalia and birdlike facies, 2 dental abnormalities, 3 proportionate short stature, 4 atrophy of skin especially on the nose5 hypotrichosis, 6 bilateral microphthalmos, and 7 cataract.

Hallermann Streiff Syndrome-The Oral Manifestations in a Child | OMICS International

The patient was not able to speak mute but she could hear properly. Intra-oral examination showed all deciduous dentition, multiple caries, enamel hypolasia Figure 5. Most individuals with HSS have ocular abnormalities. Robinow also emphasized the risks of problems with upper airway obstruction in HSS, particularly in the neonatal period and in infancy. Clinical Variability Dennis et al.