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

Title

Other Names:

Female-restricted X-linked syndromic intellectual disability-99; X-linked facial dysmorphism-short stature-choanal atresia-intellectual disability syndrome limited to females

Symptoms 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.

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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	Obstruction of the rear opening of the nasal cavity Blockage 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	Underdeveloped cerebellum Small 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	Hearing defect Deafness [ 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 arteriosus		0001643
Pes cavus	High-arched foot	0001761
Pes planus	Flat feet Flat foot [ more ]	0001763
Prominent forehead	Pronounced forehead Protruding forehead [ more ]	0011220
Prominent nasolabial fold	Deep laugh lines Deep smile lines Prominent laugh lines Prominent smile lines [ more ]	0005272
Prominent nose	Big nose Disproportionately large nose Increased nasal size Increased size of nose Large nose Pronounced nose [ more ]	0000448
Recurrent upper and lower respiratory tract infections		0200117
Renal dysplasia		0000110
Respiratory distress	Breathing difficulties Difficulty breathing [ more ]	0002098
Sacral dimple	Spinal dimple	0000960
Seizure		0001250
Short foot	Short feet Small feet [ more ]	0001773
Short palpebral fissure	Short opening between the eyelids	0012745
Slender finger	Narrow fingers Slender fingers thin fingers [ more ]	0001238
Small hand	Disproportionately small hands	0200055
Strabismus	Cross-eyed Squint Squint eyes [ more ]	0000486
Tapered finger	Tapered fingertips Tapering fingers [ more ]	0001182
Telecanthus	Corners of eye widely separated	0000506
Thick vermilion border	Full lips Increased volume of lip Plump lips Prominent lips Thick lips [ more ]	0012471
Thin upper lip vermilion	Thin upper lip	0000219
Thoracolumbar scoliosis		0002944
Upslanted palpebral fissure	Upward slanting of the opening between the eyelids	0000582
Wide nasal base	Broad base of nose Broad nasal base Increased width of base of nose Increased width of nasal base Wide base of nose [ more ]	0012810
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
1%-4% of people have these symptoms
Abnormality of thyroid physiology	Abnormal thyroid function	0002926
Bifid uvula		0000193
Generalized hypotonia	Decreased muscle tone Low muscle tone [ more ]	0001290
Lower limb asymmetry	Left and right leg differ in length or width	0100559
Recurrent respiratory infections	Frequent respiratory infections Multiple respiratory infections respiratory infections, recurrent Susceptibility to respiratory infections [ more ]	0002205
Scoliosis		0002650
Unilateral breast hypoplasia	One underdeveloped breast	0012813
Percent of people who have these symptoms is not available through HPO
Abnormality of the dentition	Abnormal dentition Abnormal teeth Dental abnormality [ more ]	0000164
Bulbous nose		0000414
Delayed speech and language development	Deficiency of speech development Delayed language development Delayed speech Delayed speech acquisition Delayed speech development Impaired speech and language development Impaired speech development Language delay Language delayed Language development deficit Late-onset speech development Poor language development Speech and language delay Speech and language difficulties Speech delay [ more ]	0000750
Hip dislocation	Dislocated hips Dislocation of hip [ more ]	0002827
Hypotelorism	Abnormally close eyes Closely spaced eyes [ more ]	0000601
Intellectual disability	Mental deficiency Mental retardation Mental retardation, nonspecific Mental-retardation [ more ]	0001249
Low-set ears	Low set ears Lowset ears [ more ]	0000369
Posteriorly rotated ears	Ears rotated toward back of head	0000358
Smooth philtrum		0000319
X-linked dominant inheritance		0001423

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Last updated: 7/1/2020

Learn More 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

Reijnders MRF, Zachariadis V, Latour B, Jolly L, Mancini GM, Pfundt R, et al. De Novo Loss-of-Function Mutations in USP9X Cause a Female-Specific Recognizable Syndrome with Developmental Delay and Congenital Malformations. Am J Hum Genet. 2016 Feb 4. 98(2); 373-381.
Brett M, McPherson J, Zang ZJ, Lai A, Tan ES, Ng I, et al. Massively Parallel Sequencing of Patients with Intellectual Disability, Congenital Anomalies and/or Autism Spectrum Disorders with a Targeted Gene Panel. PLoS One. 2014 Apr 1. 9(4); e93409.

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NIH-Supported Research Survey to Examine Impact of COVID-19 on Rare Diseases Community
May 22, 2020
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May 21, 2020

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