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Alpha-thalassemia x-linked intellectual disability syndrome


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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


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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


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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.

Showing of 86 |
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
Showing of 86 |
Do you have more information about symptoms of this disease? We want to hear from you.
Last updated: 2/1/2021
Do you have updated information on this disease? We want to hear from you.

Inheritance Inheritance


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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


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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


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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 MedlinePlus Genetics.

Learn More Learn More


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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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News

  • Rare Disease Day at NIH 2021
    March 1, 2021

GARD Answers GARD Answers


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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


Have a question? Contact a GARD Information Specialist.

References References


  1. Stevenson RE. Alpha-thalassemia x-linked intellectual disability syndrome. GeneReviews. June 2010; http://www.ncbi.nlm.nih.gov/books/NBK1449/. Accessed 9/28/2012.
Do you know of a review article? We want to hear from you.
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