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Disease Profile
X-linked female restricted facial dysmorphism-short stature-choanal atresia-intellectual disability
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.
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Age of onset
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ICD-10
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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)
Female-restricted X-linked syndromic intellectual disability-99; X-linked facial dysmorphism-short stature-choanal atresia-intellectual disability syndrome limited to females
Symptoms
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 | ||
Global |
0001263 | |
IQ between 34 and 49
|
0002342 | |
30%-79% of people have these symptoms | ||
Abnormal cortical gyration | 0002536 | |
Anal atresia |
Absent anus
|
0002023 |
Choanal atresia |
Blockage of the rear opening of the nasal cavity
Obstruction of the rear opening of the nasal cavity
[ more ] |
0000453 |
Dandy-Walker malformation | 0001305 | |
Depigmentation/hyperpigmentation of skin | 0007483 | |
Hypoplasia of the |
Underdevelopment of part of brain called corpus callosum
|
0002079 |
Infantile muscular |
Decreased muscle tone in infant
|
0008947 |
Postaxial |
0100259 | |
Decreased body height
Small stature
[ more ] |
0004322 | |
5%-29% of people have these symptoms | ||
1-minute APGAR score of 1 | 0030928 | |
5-minute APGAR score of 5 | 0030925 | |
Abnormal thyroid |
0031508 | |
Abnormality of the abdominal wall | 0004298 | |
Abnormality of the periodontium | 0410026 | |
Astigmatism |
Abnormal curving of the cornea or lens of the eye
|
0000483 |
Atrial septal defect |
An opening in the wall separating the top two chambers of the heart
Hole in heart wall separating two upper heart chambers
[ more ] |
0001631 |
Brachycephaly |
Short and broad skull
|
0000248 |
Brain atrophy |
Brain degeneration
Brain wasting
[ more ] |
0012444 |
Disease of the heart muscle
|
0001638 | |
Clouding of the lens of the eye
Cloudy lens
[ more ] |
0000518 | |
Cerebellar hypoplasia |
Small cerebellum
Underdeveloped cerebellum
[ more ] |
0001321 |
Cleft roof of mouth
|
0000175 | |
Dislocated hip since birth
|
0001374 | |
Curly hair | 0002212 | |
Curved fingers | 0004095 | |
Cyst of the ductus choledochus | 0100890 | |
Delayed puberty |
Delayed pubertal development
Delayed pubertal growth
Pubertal delay
[ more ] |
0000823 |
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 |
Difficulty walking |
Difficulty in walking
|
0002355 |
Downslanted palpebral fissures |
Downward slanting of the opening between the eyelids
|
0000494 |
Facial asymmetry |
Asymmetry of face
Crooked face
Unsymmetrical face
[ more ] |
0000324 |
Feeding difficulties |
Feeding problems
Poor feeding
[ more ] |
0011968 |
Flared nostrils | 0000454 | |
Gingival overgrowth |
Gum enlargement
|
0000212 |
Hallux valgus |
Bunion
|
0001822 |
Hearing impairment |
Deafness
Hearing defect
[ more ] |
0000365 |
High palate |
Elevated palate
Increased palatal height
[ more ] |
0000218 |
Hip dysplasia | 0001385 | |
Hydronephrosis | 0000126 | |
Hyperextensible thumb |
Double jointed thumb
|
0005722 |
Hypermetropia |
Farsightedness
Long-sightedness
[ more ] |
0000540 |
Hypertrichosis | 0000998 | |
Hypoplasia of the brainstem |
Small brainstem
Underdeveloped brainstem
[ more ] |
0002365 |
Hypoplastic nipples |
Small nipples
|
0002557 |
Joint laxity |
Joint instability
Lax joints
Loose-jointedness
Loosejointedness
[ more ] |
0001388 |
Limitation of joint mobility |
Decreased joint mobility
Decreased mobility of joints
Limited joint mobility
Limited joint motion
[ more ] |
0001376 |
Long philtrum | 0000343 | |
Low-set, posteriorly rotated ears | 0000368 | |
Misalignment of teeth |
Abnormal dental position
Abnormal teeth spacing
Abnormality of alignment of teeth
Abnormality of teeth spacing
Crooked teeth
Malaligned teeth
Malposition of teeth
Malpositioned teeth
[ more ] |
0000692 |
Myopia |
Close sighted
Near sighted
Near sightedness
Nearsightedness
[ more ] |
0000545 |
Narrow forehead |
Decreased width of the forehead
|
0000341 |
0002664 | ||
Osteopenia | 0000938 | |
Overlapping toe |
Overlapping toes
Overriding toes
[ more ] |
0001845 |
Patellar subluxation |
Partial knee cap dislocation
|
0010499 |
Patent ductus arter
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. In-Depth Information
Selected Full-Text Journal Articles
Rare Ophthalmology News |