Hallermann-Streiff syndrome (HSS)

What is Hallermann-Streiff syndrome (HSS)?

This rare disease is a genetic syndrome with a wide variety of symptoms.

These symptoms include abnormalities to the skull and craniofacial regions, as well as ocular (eye) and dental abnormalities.

The syndrome was first recorded in 1893, and there have been 150 reported cases of the syndrome, to date.

This syndrome is also known as:
Francois Dyscephalic Syndrome Francois syndrome HSS Oculo-mandibulo-dyscephaly

What gene changes cause Hallermann-Streiff syndrome (HSS)?

The syndrome is believed to be caused by new genetic mutations that have not yet been identified.

The mode of inheritance is also currently unknown.

What are the main symptoms of Hallermann-Streiff syndrome (HSS)?

The syndrome has a number of features and symptoms which may vary between individuals.

Unique physical characteristics of the symptom include deformities to the skull and craniofacial areas.

The facial features of this syndrome include a short and broad head, a prominent forehead, and prominent lower jaw. A high arched palate, very small eyes and a thin, tapered nose are also facial features of the syndrome.

Individuals may also be affected by changes to the skin, especially on the scalp and nose. They may also have sparse scalp hair. Dental defects are also common, including the delayed eruption of teeth.

Conditions relating to the eyes are characteristic to the syndrome, and these might include congenital cataracts (a clouding of the eyes).

Possible clinical traits/features:

Hypoplasia of the zygomatic bone, Underdeveloped nasal alae, Short foot, Hypothyroidism, Hypotrichosis of the scalp, Visual impairment, High palate, Hyperactivity, Short stature, Glossoptosis, Cognitive impairment, Hyperlordosis, Glaucoma, Bilateral tonic-clonic seizure, Parietal bossing, Platybasia, Nystagmus, Obstructive sleep apnea, Sparse eyelashes, Telangiectasia, Thin ribs, Thin vermilion border, Iris coloboma, Joint hypermobility, Intellectual disability, Abnormality of hair texture, Increased number of teeth, Abdominal situs inversus, Inflammatory abnormality of the eye, Micrognathia, Pectus excavatum, Microphthalmia, Metaphyseal widening, Narrow mouth, Narrow nose, Narrow palate, Myopia, Natal tooth, Low-set ears, Everted lower lip vermilion, Chorioretinal coloboma, Congestive heart failure, Clinodactyly of the 5th finger, Small for gestational age, Dry skin, Downslanted palpebral fissures, Dental malocclusion, Malar flattening, Decreased number of sternal ossification centers, Fine hair

How does someone get tested for Hallermann-Streiff syndrome (HSS)?

The initial testing for Hallermann-Streiff syndrome (HSS) can begin with facial analysis screening, through the FDNA Telehealth telegenetics platform, which can identify the key markers of the syndrome and outline the need for further testing. A consultation with a genetic counselor and then a geneticist will follow.

Based on this clinical consultation with a geneticist, the different options for genetic testing will be shared and consent will be sought for further testing.

Medical information on Hallermann-Streiff syndrome (HSS)

This condition should be recognized by immediate gestalt. It is the frontal prominence, the thin pointed nose and the small chin which are suggestive, especially in the presence of microphthalmia and cataracts. A case published by Singh et al., (2015) had aphakia. Slightly later the thinness of the skin around the nose, the forehead, and over the scalp will be noted. Neonatal problems, involving feeding and respiration, can probably be related to the small jaw and nose. The scalp hair remains thin and wispy and the facial features become sharp with age. Other problems include hypodontia. In general the outlook for normal intelligence is good, but mental retardation may occur in about 15% of cases. Most cases are single, and Cohen (1991) questions the validity of the few reports of familial cases. He provides an extensive review of 150 cases and suggests that the incidence of the various manifestations is - cataract 81-90%, microphthalmia 78-83%, dental anomalies 80-85%, hypotrichosis 80-82%, skin atrophy 68-70% and short stature 45-68%. Congenital heart defects are occasionally seen (Imaizumi et al., 1994).
Christian et al., (1991) review the radiological features which include poor ossification of the skull with wormian bones and large fontanelles, thin ribs and long bones, metaphyseal widening, mild bowing of the radius and ulna in the neonatal period and platyspondyly.
Fryns et al., (1993) reported a 14-month-old girl with a 4q deficiency (4q33-ter) and a 14q duplication (14q32-ter) as a result of a paternal balanced translocation. There were some facial features of Hallermann-Streiff syndrome (although not entirely convincing from the photographs published) and small central lens opacities. The patient reported by Schanzlin et al., (1980) with a 10q+ karyotype doesn`t seem to have Hallerman-Streiff syndrome although his distant cousin with normal chromosomes might have.
The case reported by Amichai et al., (1996) is not entirely typical.
The case reported by Hou (2003), was also unusual, in that the child looked prematurely aged, had choanal atresia, a small cerebellum, very low insulin-like growth factor I level, hypothyroidism, a generalized organic aciduria, and increased chromosome breakage.

* This information is courtesy of the L M D.
If you find a mistake or would like to contribute additional information, please email us at: [email protected]

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