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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Genu valgum Genu varum Genu recurvatum Discoid meniscus Congenital patellar dislocation Congenital knee dislocation. Clinical Variability Dennis et al. 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. Degenerative skin changes atrophy are also often present and largely limited to the scalp and nose.

Orphanet: Hallermann Streiff syndrome

Further investigation is needed regarding the frequency of spontaneous cataract absorption and optimal treatment approaches. Ophthalmologic examination revealed bilateral microphthalmia, horizontal corneal diameters of 6 mm, and bilateral visually significant cataracts preventing view of the ocular fundi.

Abnormal softening of cartilage of the windpipe tracheomalacia has also been reported in some cases, which may further complicate swallowing and breathing difficulties. Whenever possible every effort should be made to preserve these prematurely erupted deciduous baby teeth to facilitate future nutritional intake and prevent unfavorable sequelae, until the existence of successional permanent teeth can be confirmed.

Further contributions to the study of the syndrome of Hallermann and Streiff. Treatment of uveal effusion syndrome by means of scleral surgery was considered but was declined by the parents.

Treatments centre around the particular symptoms in each individual. The options available to circumvent the problems during difficult intubation are, awake intubation, intubation over a fiberoptic bronchoscope and intubation under inhalational anesthesia.

Another possibility is early onset Cockayne syndrome, an autosomal recessive disorder resulting in severe failure to thrive, severe mental retardation, congenital cataracts, loss of adipose tissue, joint contractures, distinctive face with small, deep-set eyes and prominent nasal bridge, kyphosis, and cachectic dwarfism.

Treatment The treatment of Hallermann-Streiff syndrome is directed toward the specific symptoms that are apparent in each individual. Steele and Bass reviewed 50 published cases. About two thirds of affected individuals have growth deficiency after birth and associated proportionate short stature. Create a free personal account to make a comment, download free article PDFs, sign up for alerts and more.

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Hallermann-Streiff syndrome also known as oculomandibulofacial syndrome is a rare syndrome chiefly comprising facial and ocular abnormalities. Cataract extractions were performed in this patient at 5 and 6 hallermnn of age.

Hallermann-Streiff syndrome was first described syndromr the medical literature in The Causes of Blindness in Hallermnn. In addition, in rare cases, various structural heart malformations congenital heart defects have been reported.

Males and females are equally affected. Craniodentofacial manifestations in Hallermann-Streiff syndrome. Comparisons may be useful for a differential diagnosis:.

Dental features were discussed by Caspersen and Warburg Purchase access Subscribe to the journal. For infants with feeding and respiratory difficulties, early disease management should include srreiff of breathing, consideration of tracheostomy creation of an opening through the neck into the windpipe into which a tube is inserted, to help maintain an effective airwayand various supportive measures to improve feeding and ensure sufficient intake of nutrients. Hallermamn Publications Conferences Register Contact.

Hallermann Streiff Syndrome-The Oral Manifestations in a Child

Hallermann and Streiff reported patients with dyscephaly, a ‘bird-like’ face, congenital cataracts, and microphthalmia. Early intervention is important to ensure that children with Hallermann-Streiff syndrome reach their potential.

Macrocephaly Platybasia Craniodiaphyseal dysplasia Dolichocephaly Greig cephalopolysyndactyly syndrome Plagiocephaly Saddle nose.

The patient was pre term 34 weeks low birth weight 2. Some affected infants may also have vitiligo, a condition characterized by irregular patches of skin that lack pigmentation. Sign in to access your subscriptions Sign in to your personal account.

Macular Retinal Detachment in Hallermann-Streiff Syndrome

Arthrogryposis Larsen syndrome Rapadilino syndrome. From Wikipedia, the free encyclopedia. We are determined to keep this website freely accessible. Johns Hopkins Press pub.

Wiedemann-Rautenstrauch syndrome also known as neonatal progeroid syndrome is an extremely rare genetic disorder characterized by an aged appearance at birth neonatal progeroid appearance ; growth delays syjdrome and after birth prenatal and postnatal growth deficiency ; and deficient or absent fatty tissue under the skin subcutaneous lipoatrophycausing the skin to appear abnormally thin, fragile, and wrinkled.

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In a review, Cohen pointed out that all cases have been sporadic, that the disorder has been stteiff concordant and discordant in monozygotic twins, streirf that an affected female with 2 normal children was reported by Ponte 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, Nucci P, et al.

Am J Med Genet. Neonatal teeth may be present. Dyscephaly scaphocephaly or brachycephaly with frontal bossing and typical facies micrognathia, condylar aplasiaand thin pointed nose ; dental anomalies; proportionate nanism; hypotrichosis; atrophy of the skin localized to the head and nose; bilateral microphthalmia; and congenital cataracts. 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.

Seckel syndrome is an extremely rare autosomal recessive disorder characterized by growth deficiency prior to birth intrauterine growth retardation resulting in low birth weight. Indeed, a histopathologic case series of 8 eyes with uveal effusion included a case of Hallermann-Streiff syndrome that demonstrated abnormal scleral collagen.

General Discussion Summary 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.

Furthermore, her mother and a sister also had congenital cataracts.

Hallermann Streiff Syndrome – NORD (National Organization for Rare Disorders)

In our case also the patient was reported to have recurrent respiratory infections. For all other comments, please send your remarks via contact us. In addition abnormal deposits of fat may accumulate around the buttocks, flanks, genitals and anus anogenital area. Some affected individuals may have a risk of anesthetic complications, since endotracheal intubation and laryngoscopy may be difficult due to upper airway obstruction.

Am J Med Genet A.

Last modified: December 28, 2019