1q44 microdeletion syndrome

Title

Other Names:

Del(1)(q44); Monosomy 1q44; Chromosome 1q44 microdeletion syndrome

Categories:

Congenital and Genetic Diseases

This disease is grouped under:

Chromosome 1q deletion

Summary Summary

The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs.

Orpha Number: 238769

Disease definition

1q44 microdeletion syndrome is a newly described syndrome associated with facial dysmorphism, developmental delay, in particular of expressive speech, seizures and hypotonia.

Epidemiology

It has been reported in four unrelated patients.

Clinical description

The most common facial features include microcephaly, hypertelorism and thin upper lip. An abnormal corpus callosum (agenesis, hypogenesis or slightly reduced thickness) is observed in all affected patients.

Etiology

This microdeletion was identified by array CGH (comparative genomic hybridization).

Visit the Orphanet disease page for more resources.

Last updated: 10/5/2010

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
Agenesis of corpus callosum		0001274
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
Exaggerated cupid's bow	Cupid bow upper lip Cupid-bow shaped upper lip Prominent cupid-bow of upper lip [ more ]	0002263
Generalized tonic-clonic seizures	Grand mal seizures	0002069
Global developmental delay		0001263
Intellectual disability, severe	Early and severe mental retardation Mental retardation, severe Severe mental retardation [ more ]	0010864
Muscular hypotonia	Low or weak muscle tone	0001252
Thin vermilion border	Decreased volume of lip Thin lips [ more ]	0000233
30%-79% of people have these symptoms
Abnormal cardiac septum morphology		0001671
Epicanthus	Eye folds Prominent eye folds [ more ]	0000286
Hypertelorism	Wide-set eyes Widely spaced eyes [ more ]	0000316
Microcephaly	Abnormally small skull Decreased circumference of cranium Decreased size of skull Reduced head circumference Small head circumference [ more ]	0000252
Micrognathia	Little lower jaw Small jaw Small lower jaw [ more ]	0000347
Short stature	Decreased body height Small stature [ more ]	0004322
Smooth philtrum		0000319
Strabismus	Cross-eyed Squint Squint eyes [ more ]	0000486
Telecanthus	Corners of eye widely separated	0000506
Upslanted palpebral fissure	Upward slanting of the opening between the eyelids	0000582
Ventriculomegaly		0002119
5%-29% of people have these symptoms
Biparietal narrowing		0004422
Frontal bossing		0002007
High forehead		0000348
High palate	Elevated palate Increased palatal height [ more ]	0000218
Horseshoe kidney	Horseshoe kidneys	0000085
Hydrocephalus	Too much cerebrospinal fluid in the brain	0000238
Intestinal malrotation		0002566
Optic disc hypoplasia		0007766
Preauricular skin tag		0000384
Prominent metopic ridge		0005487
Scoliosis	Abnormal curving of the spine	0002650
Synophrys	Monobrow Unibrow [ more ]	0000664
Vesicoureteral reflux		0000076

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Last updated: 12/1/2018

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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

Orphanet lists international laboratories offering diagnostic testing for this condition.

Research Research

Research helps us better understand diseases and can lead to advances in diagnosis and treatment. This section provides resources to help you learn about medical research and ways to get involved.

Clinical Research Resources

Orphanet lists European clinical trials, research studies, and patient registries enrolling people with this condition.

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

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.
Orphanet is a European reference portal for information on rare diseases and orphan drugs. Access to this database is free of charge.

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