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: Mental retardation is present in a minority of cases Gorlin et al.
Hallermann and Streiff reported patients with dyscephaly, a ‘bird-like’ face, congenital cataracts, and microphthalmia. Francois identified similar reported cases with the additional features of hypotrichosis, skin atrophy, dental anomalies, and short stature. Dental features were discussed by Caspersen and Warburg Steele and Bass emphasized the lack of mandibular angle and hypoplasia of the clavicles and ribs.
Warburg emphasized that the diagnosis halldrmann doubtful in the absence of cataract or microphthalmia. Robinow also emphasized the risks of problems with upper airway obstruction in HSS, particularly in the neonatal period and in infancy. Obstruction may result from small nares and glossoptosis secondary to micrognathia and these may lead to cor pulmonale. Such resulted in biventricular cardiac failure and death at the age of 6 months.
Harrod and Friedman described a woman with HSS who had a son with congenital cataracts. Furthermore, her mother and a sister also had congenital cataracts.
Harrod and Friedman were perplexed by these observations. The cataracts in the patient with HSS were no more severe than those in first-degree relatives who had only cataracts.
Radiologic findings in 5 cases and in the literature were reviewed by Christian et al.
Macular Retinal Detachment in Hallermann-Streiff Syndrome
Congenital heart defects are rare in HSS. Mirshekari and Safar described a year-old woman with Hallermann-Streiff syndrome. She had hypotrichosis, bird-like facies, atrophy of the skin especially on the noseabnormal dentition, and congenital bilateral cataracts, but was not dwarfed and did not have mental retardation. Long bones were slender with a few fractures, the skull was underossified, and the face was characteristic of HSS.
Bilateral cataracts were identified in the male. They regarded the condition as a severe and lethal form of HSS.
Forsius and de la Chapelle found normal chromosomes in 2 cases. Familial cases were reported by Bueno-Sanchez who found this syndrome in 2 of 3 sibs from a consanguineous marriage, supporting autosomal recessive inheritance.
Fraser and Friedmann supported dominant inheritance with almost all cases being the result of fresh mutation. They pointed to the probable cases in father and daughter reported by Guyard et al. However, the father was married to a distant hallermabn hence, this may have been an instance of pseudodominance.
Hallermann–Streiff syndrome – Wikipedia
Steele and Bass reviewed 50 published cases. Two patients had reproduced: Both of monozygotic twins were affected in the report of Van Balen Francois quoted data indicating a normal sex ratio 42 males, 46 females and a high frequency of parental consanguinity.
He knew of 2 instances of concordant monozygotic twins and at least 10 families with 2 or more cases. In all but 3 of these, the affected persons were sibs. Koliopoulos and Palimeris observed 5 cases in 3 generations with male-to-male transmission. In a review, Cohen pointed out that all cases have been sporadic, that the disorder has been both concordant and discordant in monozygotic twins, and that an affected female with 2 normal children was reported by Ponte To call this Francois syndrome Battin et al.
Syndrome de Francois a propos de 5 observations. A proposito de una presentacion familiar. Radiological findings in Hallermann-Streiff syndrome: Lethal syndrome of slender bones, intrauterine fractures, characteristic facial appearance, and cataracts, resembling Hallermann-Streiff syndrome in two sibs. A dyscephaly with congenital cataracts and hypotrichosis. Two cases in which the chromosomes were studied. The Causes of Blindness in Childhood. Johns Hopkins Press pub.
Syndromes of the Head and Neck. Sur deux cas de syndrome dyscephalique a tete d’oiseau. Vogelgesicht und Cataracta congenita. Congenital cataracts in mother, sister, and son of a patient with Hallermann-Streiff syndrome: Congenital heart defect in a patient with the Hallermann-Streiff syndrome. A typical Hallermann-Streiff-Francois syndrome in three successive generations.
Further contributions to the study of the syndrome of Hallermann and Streiff. Respiratory obstruction and cor pulmonale in the Hallermann-Streiff syndrome. Tracheomalacia in Hallermann-Streiff syndrome. Hallermann-Streiff syndrome associated with sclerocornea, aniridia, and a chromosomal abnormality. Dysmorphie mandibulo-faciale tete d’oiseau et alterations oculaires. Dyscephaly with microphthalmos, cataract and hypoplasia of the mandible.
Hallermann-Streiff syndrome is characterized by a typical skull shape brachycephaly with frontal bossinghypotrichosis, microphthalmia, cataracts, beaked nose, micrognathia, skin atrophy, dental anomalies, and proportionate short stature Hallermann, ; Streiff, ; Francois, A bonus to all MIMmatch users is the option to sign up for updates on new gene-phenotype relationships.
Dennis Fairhurst Moore s Clinical Synopsis Toggle Dropdown.
Hallermann Streiff Syndrome-The Oral Manifestations in a Child | OMICS International
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