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Disease Profile
Hallermann-Streiff syndrome
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.
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.
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.
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.
X-linked
recessive Pathogenic variants in both copies of a gene on the X chromosome cause an X-linked recessive disorder.
recessive Pathogenic variants in both copies of a gene on the X chromosome cause an X-linked recessive disorder.
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.
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.
Not applicable
Other names (AKA)
Hallermann Streiff syndrome; HSS; Hallermann Streiff Francois syndrome;
Categories
Congenital and Genetic Diseases; Eye diseases; Musculoskeletal Diseases;
Summary
Hallermann-Streiff
Symptoms
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 |
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 |
0000501 | ||
Hypothyroidism |
Underactive thyroid
|
0000821 |
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 |
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 |
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 |
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
Specialists involved in the care of people with HSS include:[1][6] 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. 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. Rare Immunology News |