Rare Ophthalmology News

Disease Profile

Hallermann-Streiff syndrome

Prevalence
Prevalence estimates on Rare Medical Network websites are calculated based on data available from numerous sources, including US and European government statistics, the NIH, Orphanet, and published epidemiologic studies. Rare disease population data is recognized to be highly variable, and based on a wide variety of source data and methodologies, so the prevalence data on this site should be assumed to be estimated and cannot be considered to be absolutely correct.

Unknown

Age of onset

Neonatal

ICD-10

Q87.0

Inheritance

Autosomal dominant A pathogenic variant in only one gene copy in each cell is sufficient to cause an autosomal dominant disease

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Autosomal recessive Pathogenic variants in both copies of each gene of the chromosome are needed to cause an autosomal recessive disease and observe the mutant phenotype

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X-linked
dominant X-linked dominant inheritance, sometimes referred to as X-linked dominance, is a mode of genetic inheritance by which a dominant gene is carried on the X chromosome.

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X-linked
recessive Pathogenic variants in both copies of a gene on the X chromosome cause an X-linked recessive disorder

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Mitochondrial or multigenic Mitochondrial genetic disorders can be caused by changes (mutations) in either the mitochondrial DNA or nuclear DNA that lead to dysfunction of the mitochondria and inadequate production of energy.

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Multigenic or multifactor Inheritance involving many factors, of which at least one is genetic but none is of overwhelming importance, as in the causation of a disease by multiple genetic and environmental factors.

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Not applicable

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Other names (AKA)

Hallermann Streiff syndrome; HSS; Hallermann Streiff Francois syndrome;

Categories

Congenital and Genetic Diseases; Eye diseases; Musculoskeletal Diseases;

Summary

Hallermann-Streiff syndrome (HSS) is a rare condition with characteristic features that are present at birth and become more apparent over time. Signs and symptoms include an unusually shaped skull, distinctive facial features, thin skin and hair, and eye and dental abnormalities.[1] Other features include poor vision, a small upper airway, and short stature. HSS is diagnosed based on a physical examination that identifies the specific signs and symptoms that have been described in this condition.[2] The cause of HSS is unknown and is thought to be due to a random genetic change.[2] HSS is not thought to be inherited in families. Because this condition is so rare, little is known about how HSS changes over time. Problems with airway management and premature aging have been reported.[3] Most people with HSS have normal intelligence.[4] Treatment for HSS is based on the specific symptoms and may involve multiple surgeries.[1][3][5]

Symptoms

The main features of Hallermann-Streiff syndrome include an unusually shaped skull and face, and abnormalities of the eyes, teeth, skin and hair. Many of the features are apparent at birth and vary from individual to individual.

Some of the most common features include:[1][2]

  • Short, broad head (brachycephaly) or small head (microcephaly)
  • Prominent forehead and/or sides of the skull (frontal bossing)
  • Small lower jaw (micrognathia)
  • Clouding of the lenses of the eyes at birth (congenital cataracts)
  • Unusually small eyes (microphthalmia)
  • Absent, malformed, or improperly aligned teeth
  • Sparse, thin hair (hypotrichosis)
  • Skin atrophy
  • Short stature

Because Hallermann-Streiff syndrome is so rare, not much is known about how this condition changes throughout life. Issues with premature aging and difficulty with airway managment have been reported. Most people with this condition have normal intelligence.[2][3][4]

This table lists symptoms that people with this disease may have. For most diseases, symptoms will vary from person to person. People with the same disease may not have all the symptoms listed. This information comes from a database called the Human Phenotype Ontology (HPO) . The HPO collects information on symptoms that have been described in medical resources. The HPO is updated regularly. Use the HPO ID to access more in-depth information about a symptom.

Medical Terms Other Names
Learn More:
HPO ID
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
Developmental cataract
Clouding of the lens of the eye at birth
0000519
Frontal bossing
0002007
Microphthalmia
Abnormally small eyeball
0000568
Proportionate short stature
0003508
Reduced bone mineral density
Low solidness and mass of the bones
0004349
Rib exostoses
0000896
Short ribs
0000773
Sparse body hair
0002231
30%-79% of people have these symptoms
Abnormality of hair texture
0010719
Abnormality of the fontanelles or cranial sutures
0000235
Glossoptosis
Retraction of the tongue
0000162
High, narrow palate
Narrow, high-arched roof of mouth
Narrow, highly arched roof of mouth

[ more ]

0002705
Increased number of teeth
Extra teeth
Increased tooth count
Supplemental teeth

[ more ]

0011069
Malar flattening
Zygomatic flattening
0000272
Micrognathia
Little lower jaw
Small jaw
Small lower jaw

[ more ]

0000347
Narrow mouth
Small mouth
0000160
Natal tooth
Born with teeth
Teeth present at birth

[ more ]

0000695
Recurrent fractures
Increased fracture rate
Increased fractures
Multiple fractures
Multiple spontaneous fractures
Varying degree of multiple fractures

[ more ]

0002757
Sparse and thin eyebrow
Thin, sparse eyebrows
0000535
Sparse eyelashes
Scant eyelashes
Scanty eyelashes
Thin eyelashes

[ more ]

0000653
Telecanthus
Corners of eye widely separated
0000506
Underdeveloped nasal alae
Underdeveloped tissue around nostril
0000430
Visual impairment
Impaired vision
Loss of eyesight
Poor vision

[ more ]

0000505
5%-29% of people have these symptoms
Abdominal situs inversus
0003363
Abnormality of cardiovascular system morphology
0030680
Cerebellar hypoplasia
Small cerebellum
Underdeveloped cerebellum

[ more ]

0001321
Choanal atresia
Blockage of the rear opening of the nasal cavity
Obstruction of the rear opening of the nasal cavity

[ more ]

0000453
Clinodactyly of the 5th finger
Permanent curving of the pinkie finger
0004209
Congestive heart failure
Cardiac failure
Cardiac failures
Heart failure

[ more ]

0001635
Cryptorchidism
Undescended testes
Undescended testis

[ more ]

0000028
Glaucoma
0000501
Hypothyroidism
Underactive thyroid
0000821
Intellectual disability
Mental retardation, nonspecific
Mental-retardation
Mental retardation
Mental deficiency

[ more ]

0001249
Microcephaly
Abnormally small skull
Decreased circumference of cranium
Decreased size of skull
Reduced head circumference
Small head circumference

[ more ]

0000252
Myopia
Close sighted
Near sighted
Near sightedness
Nearsightedness

[ more ]

0000545
Nystagmus
Involuntary, rapid, rhythmic eye movements
0000639
Respiratory insufficiency
Respiratory impairment
0002093
Short foot
Short feet
Small feet

[ more ]

0001773
Small hand
Disproportionately small hands
0200055
Strabismus
Cross-eyed
Squint
Squint eyes

[ more ]

0000486
Tracheomalacia
Floppy windpipe
0002779
Uveitis
0000554
Percent of people who have these symptoms is not available through HPO
Abnormality of the hand
Abnormal hands
Hand anomalies
Hand deformities

[ more ]

0001155
Bilateral tonic-clonic seizure
Grand mal seizures
0002069
Blue 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
0000567
Decreased number of sternal ossification centers
0006611
Dental malocclusion
Bad bite
Malalignment of upper and lower dental arches
Misalignment of upper and lower dental arches

Cause

The genetic cause of Hallerman-Streiff syndrome has not been identified. It reportedly occurs randomly for unknown reasons (sporadically), most likely due to a new spontaneous (de novo) genetic alteration (mutation).[2]

Diagnosis

Hallermann-Streiff syndrome is diagnosed by a physical examination to look for specific symptoms and features, and by excluding other conditions. The facial features are considered an important part of the diagnosis.[2]

Testing Resources

  • The Genetic Testing Registry (GTR) provides information about the genetic tests for this condition. The intended audience for the GTR is health care providers and researchers. Patients and consumers with specific questions about a genetic test should contact a health care provider or a genetics professional.

    Treatment

    Treatment of Hallermann-Streiff syndrome (HSS) is based on the symptoms. Surgery is often necessary for the eye, head and facial features. Children with HSS also often need regular dental and orthodontic care.

    Specialists involved in the care of people with HSS include:[1][6]

    • Nutritionist for feeding issues
    • Speech therapy
    • Occupational therapy
    • Anesthesia for airway management
    • Craniofacial surgeon
    • Ophthalmologist (eye specialist)
    • Dentist
    • Orthodontist

    Management Guidelines

    • Project OrphanAnesthesia is a project whose aim is to create peer-reviewed, readily accessible guidelines for patients with rare diseases and for the anesthesiologists caring for them. The project is a collaborative effort of the German Society of Anesthesiology and Intensive Care, Orphanet, the European Society of Pediatric Anesthesia, anesthetists and rare disease experts with the aim to contribute to patient safety.

      Organizations

      Support and advocacy groups can help you connect with other patients and families, and they can provide valuable services. Many develop patient-centered information and are the driving force behind research for better treatments and possible cures. They can direct you to research, resources, and services. Many organizations also have experts who serve as medical advisors or provide lists of doctors/clinics. Visit the group’s website or contact them to learn about the services they offer. Inclusion on this list is not an endorsement by GARD.

      Organizations Supporting this Disease

        Learn more

        These resources provide more information about this condition or associated symptoms. The in-depth resources contain medical and scientific language that may be hard to understand. You may want to review these resources with a medical professional.

        Where to Start

        • The National Organization for Rare Disorders (NORD) has a report for patients and families about this condition. NORD is a patient advocacy organization for individuals with rare diseases and the organizations that serve them.

          In-Depth Information

          • The Monarch Initiative brings together data about this condition from humans and other species to help physicians and biomedical researchers. Monarch’s tools are designed to make it easier to compare the signs and symptoms (phenotypes) of different diseases and discover common features. This initiative is a collaboration between several academic institutions across the world and is funded by the National Institutes of Health. Visit the website to explore the biology of this condition.
          • Online Mendelian Inheritance in Man (OMIM) is a catalog of human genes and genetic disorders. Each entry has a summary of related medical articles. It is meant for health care professionals and researchers. OMIM is maintained by Johns Hopkins University School of Medicine. 
          • Orphanet is a European reference portal for information on rare diseases and orphan drugs. Access to this database is free of charge.
          • PubMed is a searchable database of medical literature and lists journal articles that discuss Hallermann-Streiff syndrome. Click on the link to view a sample search on this topic.

            References

            1. Hallermann Streiff Syndrome. National Organization for Rare Disorders (NORD). Updated 2018; https://www.rarediseases.org/rare-disease/hallermann-streiff-syndrome. Accessed 4/9/2020.
            2. Schmidt J, Wollnik B Dec 2018; 178(4):398-406. Hallermann-Streiff syndrome: A missing molecular link for a highly recognizable syndrome. Am J Med Genet C Semin Med Genet. Dec 2018; 178(4):398-406. https://pubmed.ncbi.nlm.nih.gov/30580479.
            3. Srivasan LP, Viswanathan J. Hallermann-Streiff syndrome: Difficulty in airway increases with increasing age. J Clin Anesth. Nov 2018; 50:1:Epub. https://pubmed.ncbi.nlm.nih.gov/29929164.
            4. Mallick A, Singh RK, Thapar RK. Hallermann-Streiff syndrome: 'Bird faced' but not 'bird brained'. Med J Armed Forces India.. Apr 2018; 74(2):193-195. https://pubmed.ncbi.nlm.nih.gov/29692493.
            5. Chen CL, Peng J, Jia XG, Liu ZW, Zhao PQ. Hallermann-Streiff syndrome with bilateral microphthalmia, pupillary membranes and cataract absorption. Int J Ophthalmol. Jun 18, 2017; 10(6):1016-1018. https://pubmed.ncbi.nlm.nih.gov/28730099.
            6. Dulong A, Bornert F, Gros CI & cols. Diagnosis and Innovative Multidisciplinary Management of Hallermann-Streiff Syndrome: 20-Year Follow-Up of a Patient. The Cleft Palate-Craniofacial Journal. 2018; 55(10):1458-1466. https://www.ncbi.nlm.nih.gov/pubmed/29578805.

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