Alpha-thalassemia x-linked intellectual disability syndrome

Title

Other Names:

Alpha thalassemia intellectual disability syndrome, nondeletion type, X-linked; ATRX syndrome; ATR, nondeletion type; Alpha thalassemia intellectual disability syndrome, nondeletion type, X-linked; ATRX syndrome; ATR, nondeletion type; XLMR hypotonic face syndrome; X-linked alpha-thalassemia/intellectual disability syndrome See More

Categories:

Blood Diseases; Congenital and Genetic Diseases; Endocrine Diseases; Blood Diseases; Congenital and Genetic Diseases; Endocrine Diseases; Female Reproductive Diseases; Kidney and Urinary Diseases; Nervous System Diseases See More

Summary Summary

Alpha-thalassemia x-linked intellectual disability (ATRX) syndrome is a genetic condition that causes intellectual disability, muscle weakness (hypotonia), short height, a particular facial appearance, genital abnormalities, and possibly other symptoms. It is caused by mutations in the ATRX gene and is inherited in an x-linked way. Treatment includes regular visits to the doctor to monitor growth and intellectual development, early intervention and special education programs, and special formula to help with feeding and nutrition.^[1]

Last updated: 10/3/2012

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
Abnormality of fontanelles		0011328
Ambiguous genitalia	Ambiguous external genitalia Ambiguous external genitalia at birth Intersex genitalia [ more ]	0000062
Cryptorchidism	Undescended testes Undescended testis [ more ]	0000028
Dysphasia		0002357
Flat face	Flat facial shape	0012368
Gastroesophageal reflux	Acid reflux Acid reflux disease Heartburn [ more ]	0002020
Hypertelorism	Wide-set eyes Widely spaced eyes [ more ]	0000316
Intellectual disability	Mental deficiency Mental retardation Mental retardation, nonspecific Mental-retardation [ more ]	0001249
Male pseudohermaphroditism		0000037
Microcephaly	Abnormally small skull Decreased circumference of cranium Decreased size of skull Reduced head circumference Small head circumference [ more ]	0000252
Profound global developmental delay		0012736
30%-79% of people have these symptoms
Abnormal hemoglobin		0011902
Anteverted nares	Nasal tip, upturned Upturned nasal tip Upturned nose Upturned nostrils [ more ]	0000463
Autism		0000717
Depressed nasal ridge	Flat nose Recessed nasal ridge [ more ]	0000457
Epicanthus	Eye folds Prominent eye folds [ more ]	0000286
Everted lower lip vermilion	Drooping lower lip Outward turned lower lip [ more ]	0000232
Hypoplasia of penis	Underdeveloped penis	0008736
Macroglossia	Abnormally large tongue Increased size of tongue Large tongue [ more ]	0000158
Midface retrusion	Decreased size of midface Midface deficiency Underdevelopment of midface [ more ]	0011800
Muscular hypotonia	Low or weak muscle tone	0001252
Seizure		0001250
Short stature	Decreased body height Small stature [ more ]	0004322
Talipes equinovarus	Club feet Club foot Clubfeet Clubfoot [ more ]	0001762
Telecanthus	Corners of eye widely separated	0000506
Tented upper lip vermilion		0010804
Thick lower lip vermilion	Increased volume of lower lip Plump lower lip Prominent lower lip [ more ]	0000179
U-Shaped upper lip vermilion	Carp-like mouth Carp-shaped mouth Fish mouth Large, carp-shaped mouth Wide, carp-shaped mouth [ more ]	0010806
5%-29% of people have these symptoms
Abnormality of movement	Movement disorder Unusual movement [ more ]	0100022
Abnormality of the dentition	Abnormal dentition Abnormal teeth Dental abnormality [ more ]	0000164
Aganglionic megacolon	Enlarged colon lacking nerve cells	0002251
Agenesis of corpus callosum		0001274
Anemia	Low number of red blood cells or hemoglobin	0001903
Blindness		0000618
Brachydactyly	Short fingers or toes	0001156
Cerebral cortical atrophy	Decrease in size of the outer layer of the brain due to loss of brain cells	0002120
Clinodactyly of the 5th finger	Permanent curving of the pinkie finger	0004209
Constipation		0002019
Death in infancy	Infantile death Lethal in infancy [ more ]	0001522
Depressivity	Depression	0000716
Encephalitis	Brain inflammation	0002383
Feeding difficulties in infancy		0008872
Flexion contracture	Flexed joint that cannot be straightened	0001371
Hydronephrosis		0000126
Joint stiffness	Stiff joint Stiff joints [ more ]	0001387
Myopia	Close sighted Near sighted Near sightedness Nearsightedness [ more ]	0000545
Nausea and vomiting		0002017
Optic atrophy		0000648
Recurrent urinary tract infections	Frequent urinary tract infections Repeated bladder infections Repeated urinary tract infections Urinary tract infections Urinary tract infections, recurrent [ more ]	0000010
Self-injurious behavior	Self-injurious behaviour	0100716
Sensorineural hearing impairment		0000407
Spastic paraplegia		0001258
Volvulus		0002580
Percent of people who have these symptoms is not available through HPO
Abnormality of metabolism/homeostasis	Laboratory abnormality Metabolism abnormality [ more ]	0001939
Absent frontal sinuses		0002688
Cerebral atrophy	Degeneration of cerebrum	0002059
Clinodactyly	Permanent curving of the finger	0030084
Coxa valga		0002673
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
Global developmental delay		0001263
Growth delay	Delayed growth Growth deficiency Growth failure Growth retardation Poor growth Retarded growth [ more ]	0001510
HbH hemoglobin		0011903
Hemivertebrae	Missing part of vertebrae	0002937
Hypochromic microcytic anemia		0004840
Hypospadias		0000047
Infantile muscular hypotonia	Decreased muscle tone in infant	0008947
Kyphoscoliosis		0002751
Low-set ears	Low set ears Lowset ears [ more ]	0000369
Malar flattening	Zygomatic flattening	0000272
Micropenis	Short penis Small penis [ more ]	0000054
Microtia	Small ears Underdeveloped ears [ more ]	0008551
Perimembranous ventricular septal defect		0011682
Posteriorly rotated ears	Ears rotated toward back of head	0000358
Postnatal growth retardation	Growth delay as children	0008897
Protruding tongue	Prominent tongue Tongue sticking out of mouth [ more ]	0010808
Radial deviation of finger		0009466
Reduced alpha/beta synthesis ratio		0011907
Renal agenesis	Absent kidney Missing kidney [ more ]	0000104
Shawl scrotum	Scrotum surrounds penis	0000049
Short nose	Decreased length of nose Shortened nose [ more ]	0003196
Spasticity	Involuntary muscle stiffness, contraction, or spasm	0001257
Tapered finger	Tapered fingertips Tapering fingers [ more ]	0001182
Umbilical hernia		0001537
Ventricular septal defect	Hole in heart wall separating two lower heart chambers	0001629
Widely-spaced maxillary central incisors	Gap between upper front teeth Wide gap between upper central incisors Widely spaced upper incisors [ more ]	0001566
X-linked dominant inheritance		0001423

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Last updated: 7/1/2020

Inheritance Inheritance

Alpha-thalassemia x-linked intellectual disability (ATRX) syndrome is caused by a mutation in the ATRX gene and is inherited in an x-linked way. The chance that a relative may have ATRX syndrome depends on whether the mutation in the first affected family member was inherited from his mother or happened by chance (a de novo mutation). If the mutation happened by chance, there is very little risk that other relatives could be affected by this condition. If the mutation was inherited from his mother, each of his mother's sisters has a 50% of being a carrier of ATRX syndrome. If a woman is a carrier of an ATRX mutation, she has a 25% chance of having a son with the mutation who is affected with ATRX syndrome; a 25% chance of having a son who does not have the mutation and does not have ATRX syndrome; a 25% chance of having a daughter with the mutation who is a carrier of ATRX syndrome; and a 25% chance of having a daughter who does not have the mutation and is not a carrier.^[1]

Last updated: 10/3/2012

Diagnosis Diagnosis

Making a diagnosis for a genetic or rare disease can often be challenging. Healthcare professionals typically look at a person’s medical history, symptoms, physical exam, and laboratory test results in order to make a diagnosis. The following resources provide information relating to diagnosis and testing for this condition. If you have questions about getting a diagnosis, you should contact a healthcare professional.

Testing Resources

The Genetic Testing Registry (GTR) provides information about the genetic tests for this condition. The intended audience for the GTR is health care providers and researchers. Patients and consumers with specific questions about a genetic test should contact a health care provider or a genetics professional.

Find a Specialist Find a Specialist

If you need medical advice, you can look for doctors or other healthcare professionals who have experience with this disease. You may find these specialists through advocacy organizations, clinical trials, or articles published in medical journals. You may also want to contact a university or tertiary medical center in your area, because these centers tend to see more complex cases and have the latest technology and treatments.

If you can’t find a specialist in your local area, try contacting national or international specialists. They may be able to refer you to someone they know through conferences or research efforts. Some specialists may be willing to consult with you or your local doctors over the phone or by email if you can't travel to them for care.

You can find more tips in our guide, How to Find a Disease Specialist. We also encourage you to explore the rest of this page to find resources that can help you find specialists.

Healthcare Resources

To find a medical professional who specializes in genetics, you can ask your doctor for a referral or you can search for one yourself. Online directories are provided by the American College of Medical Genetics and the National Society of Genetic Counselors. If you need additional help, contact a GARD Information Specialist. You can also learn more about genetic consultations from Genetics Home Reference.

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.

Where to Start

Genetics Home Reference (GHR) contains information on Alpha-thalassemia x-linked intellectual disability syndrome. This website is maintained by the National Library of Medicine.
The National Organization for Rare Disorders (NORD) has a report for patients and families about this condition. NORD is a patient advocacy organization for individuals with rare diseases and the organizations that serve them.

In-Depth Information

GeneReviews provides current, expert-authored, peer-reviewed, full-text articles describing the application of genetic testing to the diagnosis, management, and genetic counseling of patients with specific inherited conditions.
The Monarch Initiative brings together data about this condition from humans and other species to help physicians and biomedical researchers. Monarch’s tools are designed to make it easier to compare the signs and symptoms (phenotypes) of different diseases and discover common features. This initiative is a collaboration between several academic institutions across the world and is funded by the National Institutes of Health. Visit the website to explore the biology of this condition.
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.
PubMed is a searchable database of medical literature and lists journal articles that discuss Alpha-thalassemia x-linked intellectual disability syndrome. Click on the link to view a sample search on this topic.

News & Events News & Events

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GARD Answers GARD Answers

Questions sent to GARD may be posted here if the information could be helpful to others. We remove all identifying information when posting a question to protect your privacy. If you do not want your question posted, please let us know. Submit a new question

My son was diagnosed with alpha-thalassemia x-linked intellectual disability syndrome. The questions I have relate to other members of the family. I have a sister who has children. I understand that if my sister has the mutation, there is a chance that she passed it to her daughter, who would then be a carrier. But the literature I have read isn't completely clear regarding boys. If my sister carries the mutation, could she have passed it to her son and could her son be an unaffected carrier of the mutation? See answer

References References

Stevenson RE. Alpha-thalassemia x-linked intellectual disability syndrome. GeneReviews. June 2010; http://www.ncbi.nlm.nih.gov/books/NBK1449/. Accessed 9/28/2012.

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