Hallermann—Streiff syndrome is a congenital disorder that affects growth, cranial development , hair growth and dental development. There are fewer than people with the syndrome worldwide. Patients with this syndrome are shorter than the average person and may not develop hair in many places, including in the facial, leg and pubic areas. Patients also have eye problems including reduced eye size , bilateral cataracts  and glaucoma.
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Alternative titles; symbols. 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 is 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. Salbert et al. 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. Congenital heart defects are rare in HSS. Imaizumi et al. 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 nose , abnormal dentition, and congenital bilateral cataracts, but was not dwarfed and did not have mental retardation.
Dennis et al. 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.
Karyotypes were normal. 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 relative; hence, this may have been an instance of pseudodominance. Steele and Bass reviewed 50 published cases. Two patients had reproduced: an affected woman gave birth to 2 normal children Ponte, and, as noted earlier, an affected man married to a distantly related woman sired an affected daughter Guyard et al.
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 He stated: 'I cannot accept any of the familial cases recorded to date.
To call this Francois syndrome Battin et al. Battin, J. Syndrome de Francois a propos de 5 observations. Bueno-Sanchez, M. Sindrome de Hallermann-Streiff-Francois.
A proposito de una presentacion familiar. Vasco-Navarra 1: , Carones, A. Francois's dyscephalic syndrome. Acta Lond. Caspersen, I. Hallermann-Streiff syndrome.
Acta Ophthal. Christian, C. Radiological findings in Hallermann-Streiff syndrome: report of five cases and a review of the literature. Cohen, M. Hallermann-Streiff syndrome: a review. Dennis, N. Lethal syndrome of slender bones, intrauterine fractures, characteristic facial appearance, and cataracts, resembling Hallermann-Streiff syndrome in two sibs.
Falls, H. A dyscephaly with congenital cataracts and hypotrichosis. Forsius, H. Dyscephalia oculo-mandibulo-facialis. Two cases in which the chromosomes were studied. Francois, J. A new syndrome: dyscephalia with bird face and dental anomalies, nanism, hypotrichosis, cutaneous atrophy, microphthalmia, and congenital cataract. AMA Arch. Francois' dyscephalic syndrome. Birth Defects Orig. Fraser, G. The Causes of Blindness in Childhood.
Baltimore: Johns Hopkins Press pub. Gorlin, R. Syndromes of the Head and Neck. New York: Oxford Univ. Press pub. Guyard, M. Sur deux cas de syndrome dyscephalique a tete d'oiseau.
Hallermann, W. Vogelgesicht und Cataracta congenita. Harrod, M. Congenital cataracts in mother, sister, and son of a patient with Hallermann-Streiff syndrome: coincidence or clue? Imaizumi, K. Congenital heart defect in a patient with the Hallermann-Streiff syndrome. Letter Am. Koliopoulos, J. A typical Hallermann-Streiff-Francois syndrome in three successive generations. Mirshekari, A. Hallermann-Streiff syndrome: a case review. Ponte, F. Further contributions to the study of the syndrome of Hallermann and Streiff.
Ophthalmologica , Robinow, M. Respiratory obstruction and cor pulmonale in the Hallermann-Streiff syndrome. Salbert, B. Tracheomalacia in Hallermann-Streiff syndrome.
Schanzlin, D. Hallermann-Streiff syndrome associated with sclerocornea, aniridia, and a chromosomal abnormality. Spaepen, A. Hallermann-Streiff syndrome: clinical and psychological findings in children: nosologic overlap with oculodentodigital dysplasia?
A familial study of Hallermann–Streiff–François syndrome
Alternative titles; symbols. 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
Hallermann-Streiff syndrome HSS is a very rare genetic disorder that has a characteristic facial appearance, dental abnormalities, hypotrichosis, skin atrophy, proportionate short stature, and ophthalmic features such as microphthalmia and congenital bilateral cataracts. The disease was first discussed by Aubry in the late s, but it was documented as a distinct entity by Hallermann in and Streiff in To date, approximately cases have been reported worldwide . The inheritance pattern of HSS is ill defined and males and females are equally affected. The vast majority of cases are attributed to sporadic mutations, but there have been a few rare familial cases reported as well. Two cases of monozygotic twins have been described, where 1 set had both twins affected while the other had only 1 twin affected . The causative gene for HSS is yet to be determined.
This table lists symptoms that people with this disease may have. For most diseases, symptoms will vary from person to person. People with the same disease may not have all the symptoms listed. The HPO collects information on symptoms that have been described in medical resources. The HPO is updated regularly. If you need medical advice, you can look for doctors or other healthcare professionals who have experience with this disease.