Disease definition. Hallermann-Streiff syndrome is a rare genetic syndrome characterized mainly by head and facial abnormalities such as bird-like facies ( with. Hallermann-Streiff syndrome is characterized by a typical skull shape ( brachycephaly with frontal bossing), hypotrichosis, microphthalmia, cataracts, beaked. Hallermann-Streiff syndrome (HSS) is a rare inherited disorder characterized by malformations of the cranium and facial bones, congenital.
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Forsius and de la Chapelle found normal chromosomes in 2 cases. Genu valgum Genu varum Genu recurvatum Discoid meniscus Congenital patellar dislocation Congenital knee dislocation. The mother reported of the child having cardiac problem ventricular septal defect for which surgery had been performed. The nose strekff 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.
Wiedemann-Rautenstrauch striff is inherited as an autosomal recessive genetic trait.
Rare Disease Database
The differential diagnoses to be considered are progeria Hutchinson- Gilfordmandibulofacial dysostosis and cleidocranial dysostosis, pyknodysostosis, Franceschetti mandibulofacial dysostosis, ectodermal aplasia and dysplasia, and occulodentoosseus dysplasia [ 12 ].
Register for email alerts with links ha,lermann free full-text articles Access PDFs of free articles Manage your interests Save searches and receive search alerts. The most common ocular finding is clouding streoff of the lenses of both eyes at birth congenital bilateral cataracts.
The edges of the eyelids may appear to turn inwards, particularly on the lower side hallermann lid entropion so that the eyelashes rub against the eye surface cornea leading to irritation, erosions and corneal opacities.
Associated symptoms and signs vary greatly in range and severity from case to case. There is no cure for Hallermann—Streiff syndrome. Hallermann-Streiff syndrome associated with complete agenesis of the corpus callosum.
Orodental findings in Hallermann-Streiff syndrome Parikh S, Gupta S – Indian J Dent Res
Mostly the cases are sporadic in nature and such inheritance pattern is found. Furthermore, her mother and a sister also had congenital cataracts. In a review, Cohen pointed out that all cases have been sporadic, that the disorder has been hallemann concordant and discordant in monozygotic twins, and that an affected female with 2 normal children was reported by Ponte She was small for her week gestational age.
Seckel syndrome inherited as an autosomal recessive genetic trait due to homozygous or compound heterozygous mutation in the ATR gene on chromosome 3q Nara Sobreira – updated: The craniofacial abnormalities associated with the disorder, such as small haolermann and glossoptosis, can cause obstruction of the upper airway, particularly during the newborn period and infancy. In addition, during the first year or two of life, scalp hair, eyebrows, and eyelashes may become sparse, and veins of the scalp may become unusually prominent.
Hallermann-Streiff syndrome also known as oculomandibulofacial syndrome is a rare syndrome chiefly comprising facial and ocular abnormalities. Johns Hopkins Press pub.
This patient exhibited hypotrichosis, dyscephalia, birdlike facies, and atrophy of skin especially on the noseconsistent with Hallermann-Streiff syndrome also known as oculomandibulofacial syndrome. Treatment of uveal effusion syndrome by means of scleral surgery was considered but was declined by the parents. According to the literature this syndrome is characterized by seven classical signs, of which our patient had most: Radiological findings in infants can include a large, poorly ossified skull with decreased ossification in the sutural areas, multiple Wormian bones within sutures, and severe mid-facial hypoplasia with a prominent nasal bone, small teeth, thin and gracile long bones with poor demarcation of the cortex from the medullary portion, neonatal bowing of the radius and ulna and widening at the metaphyseal ends of the long bones.
Tracheomalacia is a complication that can lead to chronic respiratory insufficiency, resulting in biventricular cardiac failure and early death. A bonus to all MIMmatch users is the option to sign up for updates on new gene-phenotype relationships.
There are fewer than people with the syndrome worldwide. This disorder is termed Cockayne syndrome type B CSB and caused by mutation in the gene encoding the group 6 excision-repair cross-complementing protein ERCC6 on strejff 10q Generalized odontodysplasia in a 5-year-old patient with Hallermann-Streiff syndrome: Srinivasan LP, Viswanathan J. Respiratory obstruction and cor pulmonale in the Hallermann-Streiff syndrome.
Congenital heart defects are rare in HSS. Other search option s Alphabetical strieff.
Hallermann Streiff Syndrome – NORD (National Organization for Rare Disorders)
Mild cortical irregularity of the left pubic bone strelff seen. Familial cases were reported by Bueno-Sanchez who found this syndrome in 2 of 3 sibs from a consanguineous marriage, supporting autosomal recessive inheritance. Arthrogryposis Larsen syndrome Rapadilino syndrome.
Last Edited July 9, Expert curators review the literature and organize it to facilitate your work. Some current clinical trials also are posted on the following page on the NORD website: Harrod and Friedman described a woman with HSS who had a son with congenital cataracts.