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.
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CC HPO: Two cases in which the chromosomes were studied.
Orphanet: Hallermann Streiff syndrome
Surgical correction of Hallermann-Streiff syndrome: Arthrogryposis Larsen syndrome Rapadilino syndrome. Am J Med Genet A. Abnormal softening of cartilage of the windpipe tracheomalacia has also been reported in some cases, which may further complicate swallowing and breathing difficulties. Disease definition Hallermann-Streiff syndrome is a rare genetic syndrome characterized mainly by head and facial abnormalities such as bird-like facies with beak-shaped nose and retrognathiahypoplastic mandible, brachycephaly with frontal bossing, dental abnormalities e.
The patient was not able to speak mute but she could hear properly. According to the literature this syndrome is characterized by seven classical signs, of which our patient had most: J Genet Syndr Gene Ther 6: Males and females are equally affected.
Mandibulofacial dysostosis usually has ear anomalies and lower eyelid colobomas [ 13 ].
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Congenital cataracts with unusually small eyes microphthalmia are important findings for the initial diagnosis of Hallermann-Streiff syndrome, but other disorders must be considered as part of the differential diagnosis, and this is best accomplished through whole exome sequencing given the extensive differential diagnosis, which includes a number of autosomal recessive disorders. In addition, affected infants and children are prone to repeated respiratory infections that zyndrome result in life-threatening complications.
The overall findings suggested Syjdrome Streiff syndrome and full mouth rehabilitation was planned. In almost all reported cases, Syndorme syndrome has occurred randomly for unknown reasons sporadicallymost likely due to a new spontaneous halleramnn genetic change mutation. Hallermann-Streiff syndrome is a rare genetic syndrome characterized mainly by head and facial abnormalities such as bird-like facies with beak-shaped nose and retrognathiahypoplastic mandible, brachycephaly with frontal bossing, dental abnormalities e.
Among children who present with microcephaly and bilateral congenital cataracts with small eyes, one should also consider MICRO syndrome, a rare autosomal recessive disorder characterized by microcephaly, microphthalmia, microcornea, congenital cataracts, optic atrophy, corpus callosum hypoplasia, severe intellectual disability, spastic diplegia, and hypogonadism.
Purchase access Subscribe to the journal. In addition, during the first year or two halllermann life, scalp hair, eyebrows, and eyelashes may become sparse, and veins of the scalp may become unusually prominent.
Hallermann Streiff Syndrome – NORD (National Organization for Rare Disorders)
The dental problems need thorough treatment with an interdisciplinary approach. Clinical Variability Dennis et al. Harrod and Friedman were perplexed by these observations. Hypoplasia; Aplasia; Syndrome; Orodental; Dysplasia.
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. Harrod MJ, et al.
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The greatest anesthetic challenge lies in the maintenance of an appropriate airway due to upper airway deformities which make mask ventilation, laryngeal exposure and tracheal intubation difficult.
Associated symptoms and signs vary greatly in range and severity from case to case. CCC ]. Core manifestations of this syndrome include marked pre-natal and severe post-natal growth retardation, an unusual face triangular shape, sparse hair, small mouth, pointed chindental anomalies natal teeth; hypodontiageneralized lipodystrophy with localized fat masses, and-in some cases-progressive ataxia and tremor.
Further contributions to the study of the syndrome of Hallermann and Streiff. Pectus excavatum Pectus carinatum. For information about clinical trials sponsored by private sources, contact: