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. [unboundmedicine.com]

  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]

• Disability

  Source MeSH Adolescent Adult Anesthesia Cephalometry Child, Preschool Diagnosis, Differential Female Growth Disorders Hallermann's Syndrome Humans Infant Infant, Newborn Intellectual Disability Male Pneumonia Respiratory Insufficiency Pub Type(s) Journal [unboundmedicine.com]

  Only about 15 percent of those affected by HS have intellectual disabilities. The occurrence of the disease is sporadic. [symptoma.com]

  Intellectual disability is reported in some cases. [orpha.net]

  Seckel syndrome Seckel syndrome is a rare autosomal recessive genetic disorder characterized by intrauterine growth restriction, proportionate dwarfism, and intellectual disability. [eyewiki.aao.org]

• Underweight

  The patient was born at full term with a vaginal delivery, but she was born underweight. Immediately after her birth, she was admitted to the neonatal intensive care unit, where she stayed for 45 days due to respiratory difficulties. [frontiersin.org]

• Respiratory Insufficiency

  Source MeSH Adolescent Adult Anesthesia Cephalometry Child, Preschool Diagnosis, Differential Female Growth Disorders Hallermann's Syndrome Humans Infant Infant, Newborn Intellectual Disability Male Pneumonia Respiratory Insufficiency Pub Type(s) Journal [unboundmedicine.com]

  Chronic respiratory insufficiency led to biventricular failure and death at age 6 months. There have been no previously reported cases of Hallermann-Streiff syndrome with documented tracheomalacia. [ncbi.nlm.nih.gov]

  Tracheomalacia can occur, resulting in respiratory insufficiency and death. The frequent ocular problem in affected people is congenital cataracts; these may clear up spontaneously over time. [symptoma.com]

  Tracheomalacia is a frequent complication that can lead to chronic respiratory insufficiency (subsequent biventricular cardiac failure and death has been reported in a 6-month-old infant). Sleep apnea is common in these patients. [accesspediatrics.mhmedical.com]

• 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]

  OSA that is not managed adequately has been associated with failure to thrive, hypertension, cardiopulmonary failure, and neurological damage. Each of these complications can significantly affect individual patient prognosis. [eyewiki.aao.org]

• 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]

  Patients are often left aphakic due to severe microcornea and microphthalmia that can occur with HSS.[4] Regular dental examinations are also recommended to prevent frequent dental caries that may be associated with HSS and their resulting complications [eyewiki.aao.org]

• 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]

  Affected individuals also often have a disproportionately small face; a high, narrow roof of the mouth (palate); and/or a small lower jaw (micrognathia) with receding chin (retrognathia). [rarediseases.org]

• 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]

  tooth agenesis　(選択的歯無発生)　[HP:0001592]　[08301] 　Slender long bone　(細い長管骨)　[HP:0003100]　[160012] 　Small for gestational age　(低出生体重)　[HP:0001518]　[0111] 　Sparse hair　(疎な毛髪)　[HP:0008070]　[17100] 　Spina bifida　(二分脊椎)　[HP:0002414]　[1141]　[160141] 　Sporadic [syndromefinder.ncchd.go.jp]

• Microdontia

  All teeth showed microdontia and enamel hypoplasia. The patient had mixed dentition (#16, #55, #54, #53, #11, #21, #62, #64, #26, #36, #73, #72, #71, #41, #82, #46) with severe caries and multiple premature tooth loss (#52, #63, #74, #75, #84, #85). [frontiersin.org]

• 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]

  View map Stories of Hallermann Streiff Syndrome HALLERMANN STREIFF SYNDROME STORIES VIEWS BY SURPRISE normal pregnancy. normal birth. due to low set ears and big forhead recommended genetics 37 7/5/18, 11:48 AM by ana Views: 37 Tell your story and help [diseasemaps.org]

  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]

• Muscular Atrophy

  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. [symptoma.com]

  These include the absence of (I) auricular anomalies, (II) palpebral anomalies, (III) premature arteriosclerosis, arthrosis, deformities of joints, muscular atrophy, (IV) nail and extremity anomalies, and (V) mental retardation [ 2 ]. [omicsonline.org]

  […] type l G12.1. - Spinal muscle atrohpy childhood form type ll G12.1 - Spinal muscle atrophy juvenile form type lll Synonyme: Spinal muscle atrophy type 1: Werdnig-Hoffmanns disease (SMA l) Spinal muscle atrophy type 2: Dubowitz disease (SMA ll) Spinal [orphananesthesia.eu]

• Lordosis

  Skeletal abnormalities have also been reported in some cases, such as widely flared shoulder blades (winged scapula), abnormal curvature of the spine (lordosis or scoliosis), abnormal depression of the breastbone (pectus excavatum), and/or webbing of [rarediseases.org]

• Winged Scapula

  Skeletal abnormalities have also been reported in some cases, such as widely flared shoulder blades (winged scapula), abnormal curvature of the spine (lordosis or scoliosis), abnormal depression of the breastbone (pectus excavatum), and/or webbing of [rarediseases.org]

• Blue Sclera

  A bird-like facies, cutaneous atrophy of scalp and nose, hypoplastic nasal foramina, frontal/ parietal bossing, dehiscence of sutures with open fontanellae, hypotrichosis of scalp, eyebrows and eyelashes, microphthalmia, congenital cataracts, blue sclera [ai-online.info]

  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]

  There was microphthalmia, bilateral cataracts, blue sclerae and nystagmus. The nose was thin and beak like with marked cutaneous atrophy. Mouth opening was small. She had hypoplastic mandible and high arched palate. [jpgmonline.com]

• Corneal Opacity

  This corroborates a similar report by Falls and Schull. [11] Persistent pupillary membranes found in our case have only been reported in three other cases. [10] The corneal opacities present in our case were also reported by Srivastava et al [10], but [ijo.in]

  opacities in the Hallermann-Streiff syndrome. ( 18484310 ) Roulez F.M....Meire F.M. 2008 31 Exudative retinal detachment following cataract surgery in Hallermann-Streiff syndrome. ( 18193263 ) Nishina S....Azuma N. 2008 32 Macular retinal detachment [malacards.org]

  Some eye experts suggest corneal stromal opacities, which are ill defined and bilateral with clear stroma between the opacities might be a hallmark feature of this condition. [rarediseases.org]

  Meire, Corneal Opacities in the Hallermann-Streiff Syndrome, Ophthalmic Genetics, 29, 2, (61), (2008). Shelagh K. [doi.org]

• Blepharoptosis

  Blepharoplasty and levator palpebrae repair were performed for blepharoptosis and dermatochalasis. [ncbi.nlm.nih.gov]

  Mid-diaphyseal Endosteal Thickening With Subsequent Medullary Narrowing in a Patient With Hallermann-Streiff Syndrome. ( 22393346 ) Kaissi A.A....Grill F. 2011 23 Surgical correction of Hallermann-Streiff syndrome: a case report of esotropia, entropion, and blepharoptosis [malacards.org]

  As a result of these small deeply-seated eyes, patients may appear to have small, droopy eyelids (blepharoptosis). [rarediseases.org]

• Alopecia

  […] overlying cranial sutures, or alopecia areata, or absence of eyebrows. [medical-dictionary.thefreedictionary.com]

  […] overlying skull sutures, or alopecia areata and hypoplasia, or absence of eyebrows. [biology-online.org]

  The hair is thin and sparse with areas of complete baldness, the latter either consists of patches of alopecia along the coronal and lambdoid sutures or more typically there is complete baldness over the frontal area with anterior border at the level [pediatriconcall.com]

  2 Palmoplantar Keratoderma and Congenital Alopecia, Autosomal Dominant Papillon-Lefevre Syndrome Pili Torti and Developmental Delay Pilodental Dysplasia with Refractive Errors Poikiloderma with Neutropenia Polyposis, Skin Pigmentation, Alopecia, and [nfed.org]

• Beaked Nose

  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. [unboundmedicine.com]

  Clinical aspects The syndrome associates a bird-like facies with hypoplastic mandible (in all dimensions) and “parrot-beaked” nose, microphthalmia, and congenital cataract. [accesspediatrics.mhmedical.com]

  The syndrome associates a bird-like facies with hypoplastic mandible (in all dimensions) and “parrot-beaked” nose, microphthalmia, and congenital cataract. [accessanesthesiology.mhmedical.com]

  The Hallermann-Streiff syndrome is characterized by bird-like face, micropthalmia, cataracts, micrognathia, beaked nose, abnormal dentition, hypotrichosis, cutaneous atrophy and proportional small stature. [ncbi.nlm.nih.gov]

• Frontal Bossing

  bossing, dental abnormalities (e.g. absence of teeth, natal teeth, supernumerary teeth, severe agenesis of permanent teeth, enamel hypoplasia) hypotrichosis, various ophthalmic disorders (e.g. congenital cataracts, bilateral microphthalmia, ptosis, nystagmus [orpha.net]

  Definition A disorder characterized by a typical skull shape (brachycephaly with frontal bossing), hypotrichosis, microphthalmia, cataracts, beaked nose, micrognathia, skin atrophy, dental anomalies and proportionate short stature. [uniprot.org]

  The abnormal facial features can include a short, broad head (brachycephaly), a prominent forehead and/or sides of the skull (frontal bossing); a small lower jaw (micrognathia); a narrow, highly arched palate; and a thin, pinched, tapering nose (beaked [rxlist.com]

  bossing) Hypotrichosis Microphthalmia, cataracts Beaked nose Micrognathia Skin atrophy Tooth anomalies Short stature Sometimes mental retardation Atrioventricular septal defect 3 (AVSD3, OMIM:600309 ) Common atrioventricular junction coexisting with [ganfyd.org]

• 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]

  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]

  Clinical aspects The syndrome associates a bird-like facies with hypoplastic mandible (in all dimensions) and “parrot-beaked” nose, microphthalmia, and congenital cataract. [accesspediatrics.mhmedical.com]

• Thin Lips

  Thin cranial bone 0010539 Thin ribs Slender ribs 0000883 Thin vermilion border Decreased volume of lip Thin lips [ more ] 0000233 Wormian bones Extra bones within cranial sutures 0002645 [rarediseases.info.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]

  Abnormality of the hand Abnormality of the nasopharynx Blue sclerae Cataract Choreoathetosis Decreased number of sternal ossification centers Dental malocclusion Dolichocephaly Downslanted palpebral fissures Dry skin Everted lower lip vermilion Fine hair Hyperactivity [dovemed.com]

  In rare instances, neurologic abnormalities have been noted, including hyperactivity; seizures, and/or choreoathetosis, a condition characterized by abnormal, involuntary, irregular jerky motions and slow, writhing movements. [rarediseases.org]

  ] 　Dry skin　(乾いた皮膚)　[HP:0000958]　[18039] 　Everted lower lip vermilion　(下口唇唇紅部外反)　[HP:0000232]　[05522] 　Fine hair　(細い毛髪)　[HP:0002213]　[17100] 　Generalized tonic-clonic seizures　(全般性強直間代性発作)　[HP:0002069]　[01405] 　High palate　(高口蓋)　[HP:0000218]　[0821] 　Hyperactivity [syndromefinder.ncchd.go.jp]

• Average Intelligence

  Case report The case involved a 50 year old Hindu woman, 121 cm in height, weighing 22 kg., and possessing average intelligence. Since early childhood she experienced unsatisfactory vision in both eves. Her birth history was unavailable. [ijo.in]

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].

The syndrome has many implications for dental treatment. Patients typically present with multiple missing and poorly formed teeth. [ncbi.nlm.nih.gov]

Before taking any medication, always check with a qualified professional for healthcare information, treatment advice. [rarediseases.oscar.ncsu.edu]

There are two main types of clinical studies: Clinical trials determine if a new test or treatment for a disease is effective and safe by comparing groups receiving different tests/treatments. [rarediseases.info.nih.gov]

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]

Each of these complications can significantly affect individual patient prognosis. Visual outcomes are often disappointing in patients even following cataract surgery[3] References ↑ 1.0 1.1 1.2 1.3 1.4 1.5 1.6 Mirshekari A, Safar F. [eyewiki.aao.org]

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 original reference is provided for historical interest, and review articles are included to show recent advances in etiology and treatment. [books.google.com]

The etiology of Hallermann-Streiff syndrome has not yet been established, as most cases have occurred as sporadic events. [aaopt.org]

It is a rare clinical entity of unknown etiology that affects growth, cranial development, hair growth, and dental development [ 4 ]. [omicsonline.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]

The discussion covers the phenotype spectrum, epidemiology, mode of inheritance, pathogenesis, and clinical profile of each condition, all of which is accompanied by a wealth of illustrations. [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]

The disease was first discussed by Aubry in the late 1800s, but it was documented as a distinct entity by Hallermann in 1948 and Streiff in 1950.[1] Epidemiology To date, approximately 200 cases have been reported worldwide[2]. [eyewiki.aao.org]

However, the GJA1 mutation phenotype was ultimately recognized to be different from the typical manifestations found in HSS.[2] Pathophysiology HSS appears to be related to a defect involving the second branchial arch during the early gestation period [eyewiki.aao.org]

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]

Some cases have described spontaneous resorption of congenital cataracts; however, surgery is recommended early on to prevent development of amblyopia. [eyewiki.aao.org]

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.