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: Narn Yora
Country: Central African Republic
Language: English (Spanish)
Genre: History
Published (Last): 15 March 2011
Pages: 395
PDF File Size: 13.87 Mb
ePub File Size: 14.83 Mb
ISBN: 527-5-23993-724-5
Downloads: 83656
Price: Free* [*Free Regsitration Required]
Uploader: Arashirisar

Check this box if you wish to receive a copy of your message. There are major differences but there are also similarities in phenotype, hwllermann sustain the suggestion that the syndrome can be caused by disturbed POLR3A functioning. The options available to circumvent the problems during difficult intubation are, awake intubation, intubation over a fiberoptic bronchoscope and intubation under inhalational anesthesia. Regular visits to an ophthalmologist to monitor and deal with other eye problems, some of which may require surgery, are strongly recommended.

Nara Sobreira – updated: Sign in to access your subscriptions Sign in to your personal account. It has been suggested that the syndrome might be caused by biallelic variants in POLR3A, identified by exome sequencing in a single patient only.

Hallermann-Streiff syndrome is frequently characterized by dental abnormalities.

Reproductive fitness may be low but rare affected individuals have had affected offspring. Most cases of Hallermann-Streiff syndrome are sporadic. Agri and Aquaculture Journals Dr. Francois quoted data indicating a normal sex ratio 42 males, 46 females and a high frequency of parental consanguinity.

Other anomalies reported in such patients are skeletal defects, cardiac defects ventricular septal defect reported in our patienthematopoietic abnormalities, and pulmonary anomalies [ 9 ].

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

Acheiropodia Ectromelia Phocomelia Amelia Hemimelia. 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. Warburg emphasized that the diagnosis is doubtful in the absence of cataract or microphthalmia.


Affected Populations Hallermann-Streiff syndrome appears to affect males and females in relatively equal numbers.

Macular Retinal Detachment in Hallermann-Streiff Syndrome

Respiratory obstruction and cor pulmonale in the Hallermann-Streiff syndrome. In addition, in rare cases, various structural heart malformations congenital heart defects have been reported.

Vogelgesicht und Cataracta congenita. Autosomal dominant inheritance has been suggested in some cases. CC ]. NeonatalInfancy ICD It is most likely due to a de novo mutation[6] and it may be associated with the GJA1 gene.

Related Disorders Symptoms of the following disorders can be similar to those of Hallermann-Streiff syndrome. Last Edited July 9, September 07, Citation: The material is in no way intended to replace professional hsllermann care by a qualified specialist and should not be used as a basis for diagnosis or treatment. Degenerative skin changes atrophy are also often present and largely limited to the scalp and nose. Some affected individuals may have a risk of anesthetic complications, since endotracheal intubation and laryngoscopy may be difficult due to upper airway obstruction.

The overall findings suggested Hallermen Streiff syndrome and full mouth uallermann was planned. Variability of clinical signs is typical of HSS. Sequencing of the genes LMNA, ZMPSTE24 and ICMT in 8 patients with Hallermann-Streiff syndrome revealed no evidence that this disorder is a type of laminopathy, but these other conditions remain part of the differential diagnosis, particularly when autosomal recessive inheritance is suspected.

Hallermann Streiff Syndrome-The Oral Manifestations in a Child

Harrod MJ, et al. Arthrogryposis Larsen syndrome Rapadilino syndrome. Ophthalmologic manifestations of Hallermann-Streiff-Francois syndrome: Progeria differs from HSS by having premature atherosclerosis, nail dystrophy, chronic deforming arthritis, acromicria, and normal ocular findings.


Intellectual disability is reported in some cases.

Congenital heart defect in a patient with the Hallermann-Streiff syndrome. Neonatal teeth may be present. Sur deux cas de syndrome dyscephalique a tete d’oiseau.

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 hxllermann defects or abnormal narrowing of the opening between the pulmonary artery and the right ventricle of the heart pulmonary stenosis.

Tracheomalacia is a complication that can lead to chronic respiratory insufficiency, resulting in biventricular cardiac sgndrome and early death. The diagnosis may be confirmed by thorough clinical evaluation; a detailed patient history; and specialized tests e.

In our case also the patient was reported to have recurrent respiratory infections. Most individuals with HSS have ocular abnormalities. Familial cases were reported by Bueno-Sanchez who found this syndrome in 2 of 3 sibs from a consanguineous marriage, supporting autosomal recessive inheritance.

Here we discuss a case of 9 years-old female child who presented with abnormal facial features, dental problems and associated cardiac problems. The nose is typically quite narrow and pointed; with a narrow nasal bridge, small nostrils and underdeveloped nasal cartilage that tends to become more convex beaked with age. He knew of 2 instances of concordant monozygotic twins and at least 10 families with 2 or more cases. Hutchinson-Gilford progeria syndrome is due to a de novo heterozygous mutation in the lamin A gene LMNA on chromosome 1q A report of a case.

Hallermann-Streiff syndrome with severe bilateral enophthalmos and radiological evidence of silent brain syndrome: