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Disease Profile
Fraser 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)
Cryptophthalmos with other malformations; Cryptophthalmos-syndactyly syndrome; Cryptophthalmos syndrome;
Categories
Congenital and Genetic Diseases; Digestive Diseases; Ear, Nose, and Throat Diseases;
Summary
Fraser
Fraser syndrome is caused by
Symptoms
- Eyes: Small eyes (microphthalmia), missing eyes (anophthalmia), absent or malformed lacrimal (tear) ducts, increased distance between the eyes (hypertelorism), vision loss
- Face: Unusual hairline, missing eyebrows and/or eyelashes
- Ears: Malformations of ear structure,
hearing loss - Nose: Small, abnormally shaped nostrils, flattening of the top part of the nose (low nasal bridge)
- Mouth: Cleft lip and palate, tooth crowding
- Respiratory: Abnormal development of the voicebox (larynx) and trachea (windpipe), respiratory insufficiency
- Chest and abdomen: Widely spaced nipples and umbilical abnormalities (umbilical hernia)
- Genitourinary: Ambiguous genitalia, hypospadias (abnormal urethral opening in the penis), cryptorchidism (undescended testicle), absent or abnormal kidneys (renal agenesis or hypoplasia)
- Skeletal: Separation of the pubic bones (diastasis of symphysis pubis),
scoliosis , missing ribs - Neurologic: Small head size (
microcephaly ), spina bifida,intellectual disability
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 | ||
Blindness | 0000618 | |
Cryptophthalmos | 0001126 | |
Finger syndactyly | 0006101 | |
Lacrimal duct aplasia |
Absent tear duct
|
0007925 |
Malformed lacrimal duct |
Malformed tear ducts
|
0007993 |
Multicystic kidney dysplasia | 0000003 | |
Renal hypoplasia |
Small kidneys
Underdeveloped kidneys
[ more ] |
0000089 |
30%-79% of people have these symptoms | ||
Ambiguous genitalia |
Ambiguous external genitalia
Ambiguous external genitalia at birth
Intersex genitalia
[ more ] |
0000062 |
Anal atresia |
Absent anus
|
0002023 |
Anal stenosis |
Narrowing of anal opening
|
0002025 |
Anophthalmia |
Absence of eyeballs
Failure of development of eyeball
Missing eyeball
No eyeball
[ more ] |
0000528 |
Bifid tongue |
Cleft tongue
Forked tongue
Split tongue
[ more ] |
0010297 |
Dental crowding |
Crowded teeth
Dental overcrowding
Overcrowding of teeth
[ more ] |
0000678 |
Dental malocclusion |
Bad bite
Malalignment of upper and lower dental arches
Misalignment of upper and lower dental arches
[ more ] |
0000689 |
Depressed nasal bridge |
Depressed bridge of nose
Flat bridge of nose
Flat nasal bridge
Flat, nasal bridge
Flattened nasal bridge
Low nasal bridge
Low nasal root
[ more ] |
0005280 |
External ear malformation | 0008572 | |
Female pseudohermaphroditism | 0010458 | |
Hypertelorism |
Wide-set eyes
Widely spaced eyes
[ more ] |
0000316 |
Hypoplasia of penis |
Underdeveloped penis
|
0008736 |
Laryngeal stenosis | 0001602 | |
Low-set, posteriorly rotated ears | 0000368 | |
Microphthalmia |
Abnormally small eyeball
|
0000568 |
Scrotal hypoplasia |
Smaller than typical growth of scrotum
|
0000046 |
Toe syndactyly |
Fused toes
Webbed toes
[ more ] |
0001770 |
Vaginal atresia |
Abnormally closed or absent vagina
|
0000148 |
Wide nasal bridge |
Broad nasal bridge
Broad nasal root
Broadened nasal bridge
Increased breadth of bridge of nose
Increased breadth of nasal bridge
Increased width of bridge of nose
Increased width of nasal bridge
Nasal bridge broad
Wide bridge of nose
Widened nasal bridge
[ more ] |
0000431 |
Wide pubic symphysis | 0003183 | |
5%-29% of people have these symptoms | ||
Abnormal hair pattern |
Abnormal distribution of hair
|
0010720 |
Abnormal lung lobation | 0002101 | |
Abnormality of cardiovascular system morphology | 0030680 | |
Atresia of the external auditory canal |
Absent ear canal
|
0000413 |
Bicornuate uterus |
Heart shaped uterus
Heart-shaped uterus
[ more ] |
0000813 |
Calvarial skull defect |
Cranial defect
Skull defect
[ more ] |
0001362 |
Cleft ala nasi |
Cleft nostril
|
0003191 |
Cleft upper lip |
Harelip
|
0000204 |
Conductive hearing impairment |
Conductive deafness
Conductive hearing loss
[ more ] |
0000405 |
Cryptorchidism |
Undescended testes
Undescended testis
[ more ] |
0000028 |
Death in infancy |
Infantile death
Lethal in infancy
[ more ] |
0001522 |
Ectopic anus |
Abnormal anus position
|
0004397 |
Encephalocele | 0002084 | |
High palate |
Elevated palate
Increased palatal height
[ more ] |
0000218 |
Hypospadias | 0000047 | |
Intellectual disability |
Mental deficiency
Mental retardation
Mental retardation, nonspecific
Mental-retardation
[ more ] |
0001249 |
Microcephaly |
Abnormally small skull
Decreased circumference of cranium
Decreased size of skull
Reduced head circumference
Small head circumference
[ more ] |
0000252 |
Midline nasal groove |
Central nasal groove
|
0004112 |
Myelomeningocele | 0002475 | |
Omphalocele | 0001539 | |
Pulmonary hypoplasia |
Small lung
Underdeveloped lung
[ more ] |
0002089 |
Subglottic stenosis | 0001607 | |
Tracheal stenosis |
Narrowing of windpipe
|
0002777 |
Umbilical hernia | 0001537 | |
Underdeveloped nasal alae |
Underdeveloped tissue around nostril
|
0000430 |
Urethral atresia |
Cause Fraser
Diagnosis Fraser
Testing Resources
Treatment At this time, there is no cure for Fraser
Learn moreThese 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
In-Depth Information
References
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