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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Johns Hopkins Press pub. Cleidocranial dysostosis Sprengel’s deformity Wallis—Zieff—Goldblatt syndrome.
The differential diagnosis of HSS from progeria and progeroid syndromes, mandibulofacial dysostosis, and pseudoprogeria is as follows. About two thirds of affected individuals have growth deficiency after birth and associated proportionate short stature. Macrocephaly Platybasia Craniodiaphyseal dysplasia Dolichocephaly Greig cephalopolysyndactyly syndrome Plagiocephaly Saddle nose.
In addition, many people with this syndrome have very sparse hair hypotrichosisparticularly of the scalp, eyelashes, eyebrows, beard, pubic hair, and hair under the arms. Register for email alerts with links to free full-text articles Hallerrmann PDFs of free articles Manage your interests Save searches and receive search alerts.
Recommended disease management may also include surgical reconstruction of certain craniofacial malformations particularly the mandibular and nasal region at the appropriate age. Nara Sobreira – updated: The patient was pre term 34 weeks low birth weight 2.
Hallermann–Streiff syndrome – Wikipedia
There was no major abnormality detected on routine hematological investigations and ultrasonography of abdomen. A dyscephaly with congenital cataracts and hypotrichosis.
Such resulted in biventricular cardiac failure and death at the age of 6 months. Regular close ophthalmology follow-up is strongly syndrone to identify and treat other eye abnormalities like nystagmus, ptosis and entropion, which may require surgical intervention to avoid developing a lazy eye amblyopia and allow appropriate development haplermann vision.
Standard Therapies Treatment The treatment of Hallermann-Streiff syndrome is directed toward the specific symptoms that are apparent in each individual.
Upper airway obstruction may result from small nares and glossoptosis tongue falling backwards secondary to micrognathia, and these may lead to cor pulmonale [ 3 ].
Whenever possible every effort should be made to preserve these prematurely erupted deciduous baby teeth to facilitate future nutritional intake and prevent unfavorable sequelae, halleemann the existence of successional permanent teeth can be confirmed. Intellectual disability is reported in some cases. OMIM is intended for use primarily by physicians and other professionals concerned with genetic disorders, by genetics researchers, and by advanced students in science and medicine.
Hironao N, et al. Furthermore, her mother and a sister also had congenital cataracts. The options available to circumvent the problems during difficult intubation are, awake intubation, intubation over a fiberoptic bronchoscope and intubation under inhalational anesthesia.
Hallermann-Streiff syndrome HSS is a rare disorder that is primarily characterized by distinctive malformations of the skull and facial craniofacial region; sparse hair hypotrichosis ; eye abnormalities; dental defects; degenerative skin changes atrophyparticularly in the scalp and nasal regions; and proportionate short stature. Together we are strong. He knew of 2 instances of concordant monozygotic twins and at least 10 families with 2 or more cases.
The orodental abnormalities in the present case confirmed by radiographic examination were in the form of severely carious hypoplastic teeth, missing permanent teeth, persistent deciduous teeth, bilateral hypoplastic condyles and coronoid processes.
For information about clinical trials conducted in Europe, contact: Koliopoulos and Palimeris observed 5 cases in 3 generations with male-to-male transmission. The disorder was named for two eye doctors who later independently reported cases of the syndrome, recognizing it as a distinct disease entity. Hallermann-Streiff syndrome bears some similarity to some progeroid syndromes that belong to the laminopathies, such as Hutchinson-Gilford progeria syndrome caused by de novo point mutations in the LMNA gene and mandibuloacral dysplasia recessive disorders resulting from mutations in LMNA and ZMPSTE Check this box if you wish to receive a copy of your message.
Only comments written in English can be processed. August 31, ; Published date: These signs are 1 dyscephalia and birdlike facies, 2 dental abnormalities, 3 proportionate short stature, 4 atrophy of skin especially on the nose5 hypotrichosis, 6 bilateral microphthalmos, and 7 cataract. Variability of clinical signs is typical of HSS. Alone we are rare.
For all other comments, please send your remarks via contact us. The patient was not able to speak mute but she could hear properly. Glossoptosis refers to downward displacement or retraction of the tongue that may occur secondary to abnormal smallness of the lower jaw micrognathia.