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Hallermann Syndrome

Hallermann-Streiff syndrome

Hallermann syndrome is a congenital disease characterized mainly by facial and skull abnormalities. A short head, beak-like nose, malformed teeth, and cataracts are the distinctive symptoms. Intellectual disability is rare in this medical ailment.


Presentation

Hallermann syndrome (HS) or Hallermann-Streiff syndrome (also called Francois dyscephalic syndrome) is a rare disease with characteristic craniofacial abnormalities. The most prominent are brachycephaly and pinched nose, giving the face a bird-like look. There are many other problems, including ocular and dental defects. Based on a number of cases, Francois [1] [2] identified seven signs, most of which occur in the large majority of cases. These are the following: malformation of the head and face and bird-like appearance, dental irregularities, hypotrichosis, atrophy of the skin especially around the nose, bilateral microphthalmia, bilateral congenital cataracts, and proportionate nanism.

Apart from the shortness of the head, a prominent forehead is often observed. The nasal bones are prominent and beaked. The lower jaw is frequently small, and the chin is receding. Underdevelopment of the jaw and nasal cartilage, small nostrils, and the retraction of the tongue may lead to obstruction of the upper airway. A narrowed upper respiratory tract may cause a number of complications, especially in the newborns; the latter may be serious and include sleep apnea, respiratory embarrassment, airway infections, and anesthetic risk [3]. These may even induce death [4]. Tracheomalacia can occur, resulting in respiratory insufficiency and death [5].

The frequent ocular problem in affected people is congenital cataracts; these may clear up spontaneously over time. There are several other abnormalities in addition to the microphthalmia mentioned by Francois, such as corneal stromal opacities, ptosis, strabismus, nystagmus and others. Various dental problems are also characteristic of HS. The roots are inadequately developed, resulting in early loss of permanent teeth and partial crowns. Other malformations and absence of teeth may be noticed. Preventative dental care is imperative. The skin on the face, mainly in the area of the nose tends to be atrophic. Fat grafting has been shown to improve the condition of the skin as well as help cure breathing problems [6].

Only about 15 percent of those affected by HS have intellectual disabilities. The occurrence of the disease is sporadic [3]. A female patient with two normal children has been reported, with altogether three cases of unaffected children being born to affected mothers [7].

Proportionate Short Stature
  • Abstract The Hallermann-Streiff syndrome is characterized by dyscephaly, hypotrichosis, microphthalmia, cataracts, beaked nose, micrognathia, and proportionate short stature. Cause is unknown; sporadic occurrence is the rule.[ncbi.nlm.nih.gov]
  • The Hallermann-Streiff syndrome (HSS) is a rare congenital disorder characterized by dyscephaly, birdlike facies, hypoplastic mandible, congenital cataracts, microphthalmia, hypotrichosis, skin atrophy, proportionate short stature, and dental anomalies[ncbi.nlm.nih.gov]
  • Extraoral examination revealed a brachycephalic head, proportionate short stature, sparse hair, and atrophic skin. His face was characterized by a thin beak-shaped nose and retrognathia, resulting in a characteristic birdlike appearance.[ncbi.nlm.nih.gov]
  • Abstract BACKGROUND: Dyscephaly, hypotrichosis, beaked nose, micrognathia, dental abnormalities and proportionate short stature characterize Hallermann-Streiff syndrome.[aaopt.org]
Enuresis
  • She had a history of severe snoring, reported nocturnal apnea, excessive daytime hypersomnolence, nocturnal enuresis, and failure to thrive. Overnight polysomnography confirmed severe obstructive sleep apnea.[ncbi.nlm.nih.gov]
Stridor
  • Tracheomalacia should be considered in a patient with HSS who presents with an unusual cry, stridor, choking, or apnea.[ncbi.nlm.nih.gov]
Failure to Thrive
  • She had a history of severe snoring, reported nocturnal apnea, excessive daytime hypersomnolence, nocturnal enuresis, and failure to thrive. Overnight polysomnography confirmed severe obstructive sleep apnea.[ncbi.nlm.nih.gov]
  • A 2-mo-old female baby presented with ocular abnormalities and severe failure to thrive since birth. The clinical features were compatible with the diagnosis of HSS. Further imaging, metabolic and cytogenetic examinations were performed.[ncbi.nlm.nih.gov]
Receding Chin
  • The patient had mandibulofacial dystocia with a bird-like appearance, a mouth opening of 4 cm, a receding chin, and a Mallampati class 3 examination. The surgeon requested muscle paralysis and no movement during surgery.[ncbi.nlm.nih.gov]
Dental Caries
  • The predisposition to severe dental caries and dental malformations makes it imperative to schedule effective prevention measures, especially since root canal treatment to preserve teeth can be hampered due to underdeveloped roots.[ncbi.nlm.nih.gov]
Selective Tooth Agenesis
  • tooth agenesis 0001592 Slender long bone Long bones slender Thin long bones [ more ] 0003100 Small for gestational age Birth weight less than 10th percentile Low birth weight [ more ] 0001518 Sparse hair 0008070 Spina bifida 0002414 Sporadic No previous[rarediseases.info.nih.gov]
Low Set Ears
  • We describe a 20-year-old female patient whose clinical findings mostly fall into this syndrome, except for the presence of slightly low-set ears. The mother of this patient suffered from rubella and took drugs in her 3rd month of pregnancy.[ncbi.nlm.nih.gov]
  • ears Low set ears Lowset ears [ more ] 0000369 Metaphyseal widening Broad wide portion of long bone 0003016 Narrow nose Decreased nasal breadth Decreased nasal width Thin nose [ more ] 0000460 Obstructive sleep apnea 0002870 Optic nerve coloboma 0000588[rarediseases.info.nih.gov]
  • Note the dyscephaly, microphthalmos, micrognatia, neonatal teeth, low set ears. Fig. 2. Microkeratoglobus. Note the contact /ens in place. Fig. 3. Postsurgical pupillary opening. Contact lens in position.[healio.com]
  • It is characterized by early closure of the sutures between the skull bones, bulging eyes, low-set ears, fusion of the second, third, and forth fingers, and fusion of the toes.[icd10data.com]
Blue Sclera
  • Common ocular manifestations include microphthalmia, bilateral congenital cataracts with spontaneous rupture and reabsorption, blue sclera and iris atrophy. CASE REPORT(S).[aaopt.org]
  • Blue sclerae, nystagmus, strabismus, and glaucoma are present in 10 to 30% of patients. Systemic Features: The facies are sometimes described as 'bird-like' with a beaked nose, brachycephaly, and micrognathia.[disorders.eyes.arizona.edu]
  • The ophthalmologic exam revealed microphthalmia, iris atrophy, blue sclera, microcorneea, aphakia, downslanting palpebral fissures, bilateral upper eyelid entropion, pendular nystagmus, esotropia and trichiasis.[iovs.arvojournals.org]
  • sclerae Whites of eyes are a bluish-gray color 0000592 Cataract Clouding of the lens of the eye Cloudy lens [ more ] 0000518 Choreoathetosis 0001266 Chorioretinal coloboma Birth defect that causes a hole in the innermost layer at the back of the eye[rarediseases.info.nih.gov]
Enophthalmos
  • His ophthalmic features included microphthalmos, enophthalmos, short upper lid, and thin conjunctiva, edematous corneas with fine epithelial bulla, atrophic-colobomatous iris in the left eye, slightly dilated pupils and clear lenses.[ncbi.nlm.nih.gov]
Skeletal Dysplasia
  • Dysplasia with Severe Combined Immunodeficiency Teeth, Congenital Absence of, with Taurodontia and Sparse Hair Tetramelic Deficiencies, Ectodermal Dysplasia, Deformed Ears, and Other Abnormalities Thumb Deformity and Alopecia Trichodental Dysplasia Trichodentoosseous[nfed.org]
Alopecia
  • […] overlying skull sutures, or alopecia areata and hypoplasia, or absence of eyebrows.[biology-online.org]
  • […] overlying cranial sutures, or alopecia areata, or absence of eyebrows.[medical-dictionary.thefreedictionary.com]
  • The palate is highly arched (ogive) and the tongue is small. (4) Localized alopecia is a part of the syndrome.[healio.com]
  • 80%-99% of people have these symptoms Alopecia Hair loss 0001596 Brachycephaly Short and broad skull 0000248 Convex nasal ridge Beaked nose Beaklike protrusion Hooked nose Polly beak nasal deformity [ more ] 0000444 Dermal atrophy Skin degeneration 0004334[rarediseases.info.nih.gov]
Bird-like Facies
  • Patients show bird-like facies, dental abnormalities, and hypotrichosis with various ophthalmic abnormalities. We report here a 26-year-old woman with Hallermann-Streiff Syndrome and review the literature.[ncbi.nlm.nih.gov]
  • Hallermann-Streiff syndrome is a rare congenital disorder characterized by bird-like facies and dental anomalies.[ncbi.nlm.nih.gov]
  • It is characterized by bird-like facies, dental abnormalities, hypotrichosis, atrophy of skin, congenital cataracts, bilateral microphthalmia, and proportionate nanism.[ncbi.nlm.nih.gov]
  • Homepage Rare diseases Search Search for a rare disease Hallermann-Streiff syndrome Disease definition Hallermann-Streiff syndrome is a rare genetic syndrome characterized mainly by head and facial abnormalities such as bird-like facies (with beak-shaped[orpha.net]
  • The syndrome associates a bird-like facies with hypoplastic mandible (in all dimensions) and “parrot-beaked” nose, microphthalmia, and congenital cataract.[accessanesthesiology.mhmedical.com]
Thin Lips
Nocturnal Enuresis
  • She had a history of severe snoring, reported nocturnal apnea, excessive daytime hypersomnolence, nocturnal enuresis, and failure to thrive. Overnight polysomnography confirmed severe obstructive sleep apnea.[ncbi.nlm.nih.gov]
Hyperactivity
  • Hyperactivity and seizures have been reported in a small number of individuals. Other A small number of individuals with Hallermann-Streiff syndrome have heart defects (such as a hole in the heart).[encyclopedia.com]
  • […] lower lip [ more ] 0000232 Fine hair Fine hair shaft Fine hair texture Thin hair shaft Thin hair texture [ more ] 0002213 Generalized tonic-clonic seizures Grand mal seizures 0002069 High palate Elevated palate Increased palatal height [ more ] 0000218 Hyperactivity[rarediseases.info.nih.gov]

Workup

Although symptoms of HS are striking, some of them can be seen in cases of progeria or progeroid conditions. Thus, differential diagnosis is important. Francois did not just describe the signs characterizing the disorder, but also listed those that have to be excluded. These are auricular and palpebral irregularities, early arteriosclerosis, arthrosis, muscular atrophy, nail and extremity anomalies, and mental retardation, all of which are associated with some other disease that resembles HS [2] [7].

Skeletal defects in HS can be characterized by radiological observations and may help in the diagnosis. The skull appears poorly ossified, and there is an increase in the Wormian bones. Although the skull is large, the middle of the face is underdeveloped. The gonial angle tends to be nearly straight. The nasal bone is pronounced and the teeth are small. The long bones show these features: they are unusually thin, the radius and ulna are bowed, and the metaphyseal ends are wide. The vertebral bodies appear small and flat [8].

Complete blood count is determined and the patient is tested for liver, thyroid and renal functions [2]. Chromosome analysis is performed – no chromosomal aberrations have been noted in HS [9].

Treatment

  • The treatment was satisfactory in terms of both esthetics and phonetics, excluding the need for aggressive surgical treatment.[ncbi.nlm.nih.gov]
  • Further treatment is planned as there are multiple missing permanent teeth and prosthetic/restorative care is needed until the patient reaches full adulthood.[ncbi.nlm.nih.gov]
  • Treatment with nasal ventilation is the best initial approach. It is also important to assure normal oxygenation before pregnancy since the foetus may suffer from the severe deprivation that may occur in these patients.[ncbi.nlm.nih.gov]
  • Furthermore, dental treatments and a 30-month follow-up period of the patient with this rare tooth structure malformation have been presented.[ncbi.nlm.nih.gov]

Prognosis

  • The anesthetic risks of such a procedure as well as the prognosis of her dental development are being discussed.[ncbi.nlm.nih.gov]
  • ; median age, 35 years) and 50 children ( 20 males, 30 females; median age, 3.5... more Background The diagnosis of Undifferentiated Connective Tissue Disease (UCTD) has raised controversy over the years regarding making the diagnosis, evolution and prognosis[scinapse.io]
  • Diagnosis and Prognosis: Pediatricians often diagnosis Hallermann-Streiff syndrome at birth while some children are diagnosed by ophthalmologists because of the subnormal vision or the appearance of the cataracts as ‘white pupils’.[disorders.eyes.arizona.edu]
  • Prognosis Individuals diagnosed with Hallermann-Streiff syndrome typically have normal intelligence and life-spans when complications of this disorder are properly managed.[encyclopedia.com]
  • The visual prognosis was dismal; only two patients had 20/400 vision despite the retinas having been reattached, often within a few months of diagnosis.[bjo.bmj.com]

Etiology

  • Short roots are a rare developmental anomaly in the permanent dentition, and the etiology is not well established. The generalized form is extremely rare. Generalized diminished root formation can lead to early loss of teeth.[ncbi.nlm.nih.gov]
  • The etiology of Hallermann-Streiff syndrome has not yet been established, as most cases have occurred as sporadic events.[aaopt.org]
  • Etiology unknown. Most cases described have been sporadic, no chromosome abnormalities detected. Possibly autosomal recessive inheritance. In 1948 Hallermann reported the combination of congenital cataracts and a "bird head" in a male aged 25 years.[whonamedit.com]
  • It is a rare clinical entity of unknown etiology that affects growth, cranial development, hair growth, and dental development [ 4 ].[omicsonline.org]
  • […] patients with radiographic findings of posterior semicircular canal dehiscence have been reported, but further experience with this rare condition is required before clinical extrapolations can be made. (7) In conclusion, HSS is a rare disorder of unknown etiology[thefreelibrary.com]

Epidemiology

  • Each age-specific section covers the physical, cognitive, emotional, and social changes that children experience, as well as the epidemiology of dental disease at that age.[books.google.com]
  • Neurology and Neurosurgery Czech and Slovak Ophthalmology Czech and Slovak Psychiatry Czech Geriatric Review Czech Gynaecology Czech Rheumatology Czech Dental Journal Czech Urology Czech-Slovak Dermatology Czecho-Slovak Pathology Czech-Slovak Pediatrics Epidemiology[prolekare.cz]
Sex distribution
Age distribution

Pathophysiology

  • The exact incidence of HSS is unknown, although it is believed to occur sporadically and thus cannot be predicted from family history or genetic testing. (3) Multiple developmental systems are involved in the pathophysiology of HSS, yet prior case reports[thefreelibrary.com]
  • ., Implication of Dopaminergic Neurodevelopment in the Pathophysiology of Down Syndrome., Gordon Research Conference. Dendrites: Molecules, Structure & Function, 2017.03. 11.[hyoka.ofc.kyushu-u.ac.jp]

Prevention

  • By treating her with nasal continuous positive airway pressure, a worsening of her headaches and glaucoma was prevented. The administration of acetazolamide controlled all of her symptoms.[ncbi.nlm.nih.gov]
  • With the availability of surgery and supportive treatment, early diagnosis of tracheomalacia in these patients may prevent death and secondary neurologic insult from acute hypoxia.[ncbi.nlm.nih.gov]
  • Young patients with HSS and other similar syndromes must be involved in personalized oral health prevention programs as early as possible.[ncbi.nlm.nih.gov]

References

Article

  1. Francois J. A new syndrome; dyscephalia with bird face and dental anomalies, nanism, hypotrichosis, cutaneous atrophy, microphthalmia, and congenital cataract. AMA Arch Ophthalmol. 1958 Nov;60(5):842-862.
  2. Gungor OE, Nur BG, Yalcin H, Karayilmaz H, Mihci E. Comprehensive dental management in a Hallermann-Streiff syndrome patient with unusual radiographic appearance of teeth. Niger J Clin Pract. 2015 Jul-Aug;18(4):559-562.
  3. Cohen MM Jr. Hallermann-Streiff syndrome: a review. Am J Med Genet. 1991 Dec 15;41(4):488-499.
  4. Robinow M. Respiratory obstruction and cor pulmonale in the Hallermann-Streiff syndrome. Am J Med Genet. 1991 Dec 15;41(4):515-516.
  5. Salbert BA, Stevens CA, Spence JE. Tracheomalacia in Hallermann-Streiff syndrome. Am J Med Genet. 1991 Dec 15;41(4):521-523.
  6. Bénateau H, Rocha CS, Rocha F de S, Veyssiere A. Treatment of the nasal abnormalities of Hallermann-Streiff syndrome by lipofilling. Int J Oral Maxillofac Surg. 2015 Oct;44(10):1246-1249.
  7. Mirshekari A, Safar F. Hallermann-Streiff syndrome: a case review. Clin Exp Dermatol. 2004 Sep;29(5):477-479.
  8. Christian CL, Lachman RS, Aylsworth AS, et al. Radiological findings in Hallermann-Streiff syndrome: report of five cases and a review of the literature. Am J Med Genet. 1991 Dec 15;41(4):508-514.
  9. Forsius H, de la Chapelle A. Dyscephalia oculo-mandibulo-facialis; two cases in which the chromosomes were studied. Ann Paediatr Fenn. 1964;10:280-287.

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Last updated: 2019-07-11 21:17