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Disease Profile

X-linked female restricted facial dysmorphism-short stature-choanal atresia-intellectual disability

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

#N/A

ICD-10

#N/A

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)

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 developmental delay
0001263
Intellectual disability, moderate
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 corpus callosum
Underdevelopment of part of brain called corpus callosum
0002079
Infantile muscular hypotonia
Decreased muscle tone in infant
0008947
Postaxial polydactyly
0100259
Short stature
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 hormone level
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
Cardiomyopathy
Disease of the heart muscle
0001638
Cataract
Clouding of the lens of the eye
Cloudy lens

[ more ]

0000518
Cerebellar hypoplasia
Small cerebellum
Underdeveloped cerebellum

[ more ]

0001321
Cleft palate
Cleft roof of mouth
0000175
Congenital hip dislocation
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
Neoplasm
0002664
Osteopenia
0000938
Overlapping toe
Overlapping toes
Overriding toes

[ more ]

0001845
Patellar subluxation
Partial knee cap dislocation
0010499
Patent ductus arter

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.

In-Depth Information

  • 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.

Selected Full-Text Journal Articles

Rare Infectious Disease News