Smith-Magenis Syndrome

Disease Overview

Summary

Smith-Magenis syndrome (SMS) is a complex developmental disorder that affects multiple organ systems of the body. The disorder is characterized by a pattern of abnormalities that are present at birth (congenital) as well as behavioral and cognitive problems. Common symptoms include distinctive facial features, skeletal malformations, varying degrees of intellectual disability, speech and motor delays, sleep disturbances and self-injurious or attention-seeking behaviors. The specific symptoms present in each affected person can vary extensively from one individual to another. Approximately 90% of cases are caused when a portion of chromosome is missing or deleted (monosomic). This deleted portion within chromosome 17p11.2 includes the RAI1 gene, which is thought to play a major role in the development of the disorder. In the remaining cases, there is no deleted material on chromosome 17; these cases are caused by changes (variants) in the RAI1 gene. Other genes within the deleted segment may also play a role in variable features in the syndrome but it is not fully understood how significant a role they play in the development of SMS.

Introduction

Smith-Magenis syndrome was first reported in the medical literature in 1982 by Ann Smith, a genetic counselor, and colleagues. In 1986, Smith and Dr. R. Ellen Magenis identified nine patients with the disorder further delineating the syndrome. Since that time, numerous additional people have been diagnosed, allowing doctors to develop a better understanding of this complex neurodevelopmental disorder.

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Synonyms

• chromosome 17, interstitial deletion 17p
• chromosome 17p11.2 deletion syndrome
• SMCR
• Smith-Magenis chromosome region
• retinoic acid induced 1 gene (RAI1)
• SMS

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Signs & Symptoms

Smith-Magenis syndrome is a highly variable disorder. The specific symptoms present and the overall severity of the disorder can vary from one person to another. It is important to understand that affected individuals will not have all the symptoms discussed below and that every individual is unique. Parents should talk to the physician and medical team about their child’s specific case, associated symptoms and overall prognosis.

• Distinctive facial features that usually progress with age, include:
  • Broad, square-shaped facial appearance
  • Prominent forehead
  • Deep-set eyes that are farther apart than usual (hypertelorism)
  • Upslanting palpebral (eye) fissures
  • Broad bridge of the nose
  • Hair growth between the eyebrows so it appears as one long eyebrow (synophrys)
  • Down-turned (everted; cupid bow) upper lip
  • Short, full-tipped nose
  • Underdeveloped middle portion of the face (midface retrusion)
  • Head that is disproportionately short (brachycephaly)
  • Small jaw (micrognathia)
  • “Cherubic” face with rosy cheeks
  • Micrognathia (small lower jaw) that may change with age, so that the lower jaw abnormally protrudes outward (relative prognathia)
• Teeth abnormalities including:
  • Absence (agenesis) of secondary (permanent) teeth, particularly premolars
  • Taurodauntism, a condition characterized by enlargement of the pulp chambers and reduction of the roots of teeth
  • Open bite posture with large tongue (macroglossia)
  • Bruxism (teeth grinding)
• Diminished muscle tone (hypotonia)
• Poor reflexes (hyporeflexia)
• Feeding difficulties such as poor sucking ability which can contribute to difficulty growing and gaining weight (failure to thrive)
• Speech delay
• Quiet and complacent manner with infrequent crying and diminished vocalizations reflecting the marked early expressive speech delay
  • Sleepiness–affected infants may nap for prolonged periods of time and have generalized daytime lethargy
  • Sleep disturbance is a chronic lifelong problem
  • In addition to sleep issues during infancy (generalized lethargy & “too sleepy”), affected individuals develop significant sleep disturbances from early childhood that continue into adolescence and adulthood
  • The sleep cycle is characterized by problems that can include difficulty falling asleep, shortened sleep cycles, an inability to enter REM sleep and frequently waking during the night and early in the morning (5:30-6:30AM) and, in general, the hours of sleep are less than expected for age
    • Because of the disrupted nighttime sleep cycle affected individuals may have periods of drowsiness during the day, known as excessive daytime sleepiness or sleep debt, which remains a chronic issue
    • The sleep abnormalities are associated with an inverted circadian rhythm of melatonin, reported in over 90% of affected people
      • A circadian rhythm sleep disorder occurs when a person’s biological clock fails to synchronize to a normal 24-hour day
      • Melatonin, a normal occurring hormone, rises and falls; it rises, peaking at night and causes drowsiness
        • Melatonin levels lessen in the morning, reaching their lowest levels during the middle of the day. In individuals with an inverted circadian rhythm, the rising and falling of melatonin levels is reversed (daytime highs)
      • Gastroesophageal reflux
      • Varying degrees of cognitive ability
      • Mild to moderate intellectual disability
      • Delays in attaining speech and motor skills and in reaching developmental milestones (developmental delays)
      • Language problems with expressive language often more delayed than receptive language (expressive language refers to how someone uses words to express themself and receptive language refers to how a person understands language)
      • Specific behavioral problems (maladaptive behaviors) such as self-injurious behavior (head banging, hand biting, face slapping, skin picking), “self-hugging”, impulsivity, hyperactivity and attention deficient disorder, frequent and prolonged tantrums, sudden mood changes, toilet training difficulties, disobedience and aggressive or attention-seeking behaviors
      • Repeated head banging that can potentially cause detachment of the retina, which although a concern, is not a high risk
        • Older children may yank at fingernails and toenails (onychotillomania) or insert objects into body orifices (polyembolokoilamania)
        • Affected children tend to be excitable and easily distracted
        • Although behavioral issues are common, many individuals tend to have endearing and engaging personalities, with a great sense of humor and long-term memory for faces, places and things
      • Chronic ear infections, including repeated middle ear infections (otitis media)
      • Hearing loss, typically ranging from slight to mild and showing a pattern of fluctuating and progressive hearing decline with age
        • Both conductive and/or sensorineural hearing loss may develop
        • Conductive hearing loss is most common in early childhood (under 10 years), while sensorineural hearing loss occurs more frequently at older ages (11years – adulthood)
          • Conductive hearing loss develops when sound waves are inappropriately conducted through the external or middle ear to the inner ear, resulting in decreased sensitivity to sound
          • Sensorineural hearing loss develops where there is damage to the inner ear (cochlea) or the nerve pathway from inner ear to the brain
        • Abnormal sensitivity to certain sounds or frequencies (hyperacusis)
        • Frequent sinus infections (sinusitis)
        • Eye abnormalities such as progressive nearsightedness (myopia), crossed eyes (strabismus) and unusually smallness of the cornea (microcornea)
        • Abnormal voice box (larynx) or surrounding tissue including formation of polyps and nodules or swelling due to fluid retention (edema) and paralysis of the vocal cords
        • Soft palate of the mouth does not close properly during speech (velopharyngeal insufficiency)
        • Oral sensorimotor dysfunction, in which affected individuals have difficulties controlling the lips, tongue and jaw muscles, which may cause tongue protrusion and frequent drooling
          • Due to such abnormalities, children may develop a hoarse, deep voice and these abnormalities also contribute to delays in speech development
        • Excessive weight gain and obesity in adolescence (approximately 90% of children may be overweight or obese by the age of 14)
        • Short stature during childhood, although height is typically within the normal range as adults
        • Abnormally high levels of cholesterol in the blood (hypercholesterolemia)
        • Chronic constipation
          • Skeletal malformations including:
            • Front-to-back curvature of the spine (lordosis)
            • Mild-to-moderate sideways curvature of the spine (scoliosis)
            • Abnormally small hands and feet
            • Markedly flat or highly arched feet that can cause an unusual manner of walking (abnormal broad-based gait)
            • Vertebral anomalies and forearm and elbow limitations

Less common symptoms may include immune system dysfunction, thyroid function abnormalities (hypothyroidism), heart (cardiac) defects, kidney (renal) and/or urinary tract malformations, cleft lip and cleft palate and seizures which may go unnoticed (subclinical seizures).

Peripheral neuropathy, which is a general term for any disorder of the peripheral nervous system, may also occur. Peripheral neuropathy includes any disorder that primarily affects the nerves outside the central nervous system (i.e. brain and spinal cord). Symptoms may include a decreased sensitivity to pain commonly seen in SMS. Peripheral neuropathy is often associated with the loss of sensation or abnormal sensations such as tingling, burning, or pricking along the affected nerves, but it is unknown whether this occurs in individuals with SMS.

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Causes

In about 90% of affected people, a portion of the short arm (p) of chromosome 17 (17q11.2) is missing, which is referred to as deleted or monosomic. Chromosomes, which are present in the nucleus of human cells, carry genetic information for each individual. Human body cells normally have 46 chromosomes. Pairs of human chromosomes are numbered from 1 through 22 and the sex chromosomes are designated X and Y. Males have one X and one Y chromosome, and females have two X chromosomes. Each chromosome has a short arm designated “p” and a long arm designated “q”. Chromosomes are further sub-divided into many bands that are numbered. For example, “chromosome 17p11.2” refers to band 11.2 on the short arm of chromosome 17. The numbered bands specify the location of the thousands of genes that are present on each chromosome.

In people with SMS, the deleted section of chromosome 17 includes the RAI1 gene. Genes provide instructions for creating proteins that play a critical role in many functions of the body. When a gene is missing due to a monosomic chromosome abnormality, the protein product of that gene is reduced. Variants in the RAI1 gene lead to insufficient levels of functional copies of the protein product normally produced by the gene.

Depending upon the functions of the protein, this can affect many organ systems of the body, including the brain. The specific functions of the protein produced (encoded) by the RAI1 gene are not fully understood.

The exact cause of the chromosomal alteration in SMS is unknown. The medical literature has indicated that virtually all documented cases appear to be due to a spontaneous (de novo) genetic change that occurs for unknown reasons.

Rarely, SMS is the result of an error during very early embryonic development due to a chromosomal balanced translocation in one of the parents. A translocation is balanced if pieces of two or more chromosomes break off and trade places, creating an altered but balanced set of chromosomes. If a chromosomal rearrangement is balanced, it is usually harmless to the person who has it. However, this may be associated with a higher risk of abnormal chromosomal development in the person’s children. In these cases, the clinical features of children may be influenced by additional imbalances of chromosomes other than chromosome 17. Chromosomal testing can determine whether a parent has a balanced translocation. For parents with a child with SMS who both have a normal chromosome analysis, the risk of recurrence in a future pregnancy is below 1%.

The remaining 10% of cases of SMS are caused by changes (variants) in the RAI1 gene. These variants may occur randomly with no family history (de novo variant) or be inherited in an autosomal dominant manner. Dominant genetic disorders occur when only a single copy of a disease-causing gene variant is necessary to cause the disease. The gene variant can be inherited from either parent or can be the result of a new (de novo) changed gene in the affected individual that is not inherited. The risk of passing the gene variant from an affected parent to a child is 50% for each pregnancy. The risk is the same for males and females.

SMS may occur because of germline mosaicism. In germline mosaicism, some of a parent’s reproductive (germ) cells carry the RAI1 gene variant or chromosome 17p deletion, while other germ cells do not (mosaicism). In addition, the other cells of a parent also do not have either of these chromosomal abnormalities; consequently, the parents are unaffected. However, as a result, one or more of the parent’s children may inherit the germ cell with a chromosomal abnormality, leading to the development of SMS. Germline mosaicism is suspected when apparently unaffected parents have more than one child with the disorder. The likelihood of a parent passing on a mosaic germline chromosomal abnormality to a child depends upon the percentage of the parent’s germ cells that have the abnormality versus the percentage that do not. There is no test for germline variants or chromosome abnormality prior to pregnancy. Testing during pregnancy may be available and is best discussed with a genetic specialist.

A child born to an individual with SMS is at a theoretical risk of 50% to inherit the deletion or RAI1 variant that causes the disorder. The fertility in SMS in general is not fully understood; however, there is at least one report in the medical literature of a mother with SMS having a child with SMS.

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Affected populations

Smith-Magenis syndrome affects males and females in equal numbers. The incidence is estimated to be 1 in 15,000-25,000 people in the general population in the United States. However, people may go undiagnosed or misdiagnosed, making it difficult to determine the true frequency of SMS in the general population. SMS has been reported throughout the world and in all ethnic groups.

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Disorders with Similar Symptoms

Symptoms of the following disorders can be similar to those of Smith-Magenis syndrome. Comparisons may be useful for a differential diagnosis.

There are many different chromosomal disorders that have signs and symptoms that are similar to those seen in SMS. Such disorders include Down syndrome, Williams syndrome, Prader-Willi syndrome, Angelman syndrome, Sotos syndrome, fragile X syndrome, chromosome 22q11.2 deletion syndrome, 9q34 deletion syndrome (Kleefstra syndrome), 2q37 deletion syndrome, 2q23.1 deletion syndrome and 1p36 deletion syndrome. Individuals with SMS often initially receive a psychiatric diagnosis including obsessive-compulsive disorder, pervasive developmental disorder, or attention deficit hyperactivity disorder. Some children with SMS are initially diagnosed with an autism spectrum disorder. (For more information on these disorders, choose the specific disorder name as your search term in the Rare Disease Database.)

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Diagnosis

The diagnosis of Smith-Magenis syndrome is based upon identification of characteristic symptoms, a detailed patient and family history, a thorough clinical evaluation and a variety of specialized genetic tests. The diagnosis of SMS is confirmed when deletion 17p11.2 (cytogenetic analysis or microarray) or RAI1 gene variant is identified.

Clinical Testing and Workup
In the past, a specific chromosomal study known as G-band analysis, which shows missing (deleted) material on chromosome 17p, was used to help obtain a diagnosis of SMS. Chromosomes may be studied from a blood sample. During this test the chromosomes are stained so that they can be more easily seen and then are examined under a microscope where the missing segment of chromosome 17p can be detected (karyotyping). To determine the precise breakpoint, a more sensitive test known as fluorescent in situ hybridization (FISH) may be necessary. During a FISH exam, probes marked by a specific color of fluorescent dye are attached to a specific chromosome allowing a better view of that specific region of the chromosome.

Chromosomal microarray analysis may also be used. During this exam, a person’s DNA is compared to the DNA of a person without a chromosomal abnormality A chromosome abnormality is noted when a difference is found between the DNA samples. Chromosomal microarray analysis allows for the detection of very small changes (missing or duplicated segments) or alterations.

Molecular genetic testing that shows a RAI1 gene variant can confirm a diagnosis of having SMS.

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Standard Therapies

Treatment

Treatment may require the coordinated efforts of a team of specialists. Pediatricians, surgeons, cardiologists, dental specialists, speech pathologists, audiologists, ophthalmologists, psychologists and other healthcare professionals may need to systematically and comprehensively plan and affect child’s treatment. Genetic counseling is recommended for affected individuals and their families. Psychosocial support for the entire family is essential as well.

Treatment is symptomatic and supportive. Early intervention is important in ensuring that affected children reach their highest potential. Services that may be beneficial include special remedial education, speech/language therapy, physical therapy, occupational therapy and sensory integration therapy, in which certain sensory activities are undertaken in order to help regulate a child’s response to sensory stimuli.

SMS is a complex genetic condition that affects various areas of health, including behavior, sleep and physical development. While there is still no cure or a specific treatment, regular health evaluations help manage potential issues and support better quality of life for people with SMS.  Recommendations for affected people may include;

• Routine physical exams allow healthcare providers to monitor overall health and address any new symptoms or physical changes associated with SMS.
• Regular assessments by a psychiatrist or psychologist help to address behavioral challenges such as impulsivity, aggression and mood swings and manage these issues; therapies such as behavioral interventions may be recommended. Behavioral medications are also sometimes considered based on individual needs.
• Sleep disturbances are very common in SMS. The following medication can be used:
  • Melatonin, a hormone that regulates sleep, is typically lower in individuals with SMS.
  • Tasimelteon (a newer medication approved to help regulate sleep patterns) may be prescribed in some people to improve sleep quality.
  • Regular follow-ups ensure the treatment remains effective and is adjusted as needed.
• Blood tests measure red and white blood cells and platelets, identifying potential issues like anemia or immune challenges, which may occasionally be associated with SMS.
• Liver function tests, with routine tests assessing how well the liver is working, are important since certain medications or health conditions in SMS can impact liver function.
• Kidney function tests, such as blood urea nitrogen (BUN) and creatinine levels show how well the kidneys filter waste, helping detect any kidney-related issues early.
• Electrocardiogram (ECG) as individuals with SMS may have congenital heart abnormalities. An ECG measures heart rhythms to detect irregularities, especially given that SMS can affect heart health.
• Neurological exams to check brain and nerve functions such as reflexes and coordination. Since SMS affects the nervous system, this evaluation helps detect and manage any neurological symptoms.
• Thyroid function tests, as thyroid issues are sometimes seen in SMS and can impact growth and metabolism. Thyroid tests measure hormone levels to find any issues that could slow growth or cause fatigue.
• Blood sugar (glucose) testing, as SMS may affect metabolism, making it important to monitor blood sugar levels regularly.
• Bone health (bone density test) as people with SMS may be at higher risk for bone weakness, so a bone density test helps assess bone strength and may lead to recommendations like supplements or dietary adjustments.
• Pulmonary (lung) function tests, since respiratory issues can be a concern for some individuals with SMS, lung function tests help check breathing and lung health.
• Vision exams as people with SMS often have vision issues, including nearsightedness or other visual concerns. Regular eye exams help monitor vision and detect any necessary adjustments in treatment.
• Hearing tests, as hearing loss or impairment is common in SMS. Routine hearing tests can detect early changes, and hearing aids may be recommended when needed.
• Skin examinations for certain skin-related symptoms, like picking or self-injury, which are commonly seen in SMS. Skin exams help identify any infections, wounds, or other skin concerns that may need treatment.
• Digestive health evaluation, as gastrointestinal (GI) evaluations help identify digestive issues like constipation, reflux, or abdominal pain. Some individuals with SMS may need dietary support or medications for GI symptoms.
• Reproductive health evaluations, for females with SMS, especially if they are of childbearing age, to monitor any potential effects on reproductive organs and hormonal health.
• Immune function tests, as SMS can occasionally impact immune health. Immunological testing checks immune responses, particularly if there are signs of recurring infections.

Additional medical, social and vocational services may be recommended when appropriate.

Prognosis

SMS is highly variable, so it is impossible to generalize about prognosis for individual people. Some affected individuals have been employed and live semi-independently with support from family and friends. Others require constant care and may need to live with family or in a residential facility. As stated above, parents should talk to the physician and medical team about their child’s specific case and overall prognosis.

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Clinical Trials and Studies

Information on current clinical trials is posted on the Internet at www.clinicaltrials.gov. All studies receiving U.S. government funding, and some supported by private industry, are posted on this government web site.

For information about clinical trials being conducted at the NIH Clinical Center in Bethesda, MD, contact the NIH Patient Recruitment Office:

Toll-free: (800) 411-1222
TTY: (866) 411-1010
Email: [email protected]

Some current clinical trials also are posted on the following page on the NORD website: https://rarediseases.org/living-with-a-rare-disease/find-clinical-trials/

For information about clinical trials sponsored by private sources, in the main, contact: www.centerwatch.com

For more information about clinical trials conducted in Europe, contact: https://www.clinicaltrialsregister.eu/

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References

TEXTBOOKS

Gropman AL, Smith ACM, Duncan W. Neurologic Aspects of the Smith-Magenis Syndrome. In: Cognitive and Behavioral Abnormalities of Pediatric Disease, Nass RD and Frank Y, editors. Oxford University Press, New York, NY. 2010:231-243.

Smith ACM, Gropman A. Smith Magenis Syndrome. In: Management of Genetic Syndromes 3rd Edition. Suzanne B. Cassidy, Judith E. Allanson (Editors). Wiley-Blackwell, Hoboken, NJ. 2010.

Smith ACM, Finucane B. Smith-Magenis Syndrome. In: NORD Guide to Rare Disorders. Lippincott Williams & Wilkins. Philadelphia, PA. 2003:254-255.

JOURNAL ARTICLES

Acquaviva F, Sana ME, Della Monica M, Pinelli M, Postorivo D, Fontana P, Falco MT, Nardone AM, Lonardo F, Iascone M, Scarano G. First evidence of Smith–Magenis syndrome in mother and daughter due to a novel RAI mutation. Am J Med Genet Part A 2017;173A:231–238. https://www.ncbi.nlm.nih.gov/labs/articles/27683195/

Goh ES, Banwell B, Stavropoulos DJ, Shago M, Yoon G. Mosaic microdeletion of 17p11.2-p12 and duplication of 17q22-24 in a girl with Smith-Magenis phenotype and peripheral neuropathy. Am J Med Genet A. 2014;164:748-752. https://www.ncbi.nlm.nih.gov/pubmed/24357149

Williams SR, Zies D, Mullegama SV, et al. Smith-Magenis syndrome results in disruption of CLOCK gene transcription and reveals an integral role for RAI1 in the maintenance of circadian rhythmicity. Am J Hum Genet. 2012;90:941-949. https://www.ncbi.nlm.nih.gov/pubmed/22578325

Hildenbrand HL, Smith ACM. Analysis of the sensory profile in children with Smith-Magenis syndrome. Phys Occup Ther Pediatr. 2012 Feb;32(1):48-65. https://www.ncbi.nlm.nih.gov/pubmed/21599572

Vieira GH, Rodriguez JD, Boy R, et al. Differential diagnosis of Smith-Magenis syndrome: 1p36 deletion syndrome. Am J Med Genet A. 2011;155A:988-992. https://www.ncbi.nlm.nih.gov/pubmed/21480478

Thierry V, Ciccone C, Blancato JK, et al. Molecular analysis of the retinoic acid induced 1 gene (RAI1) in patients with suspected Smith-Magenis syndrome without the 17p11.2 deletion. PLoS One. 2011;6:e22861. https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3152558/

Laje G, Bernert R, Morse R, Pao M, Smith, ACM. Pharmacological treatment of disruptive behavior in Smith-Magenis syndrome. Am J Med Genet Part C Semin Med Genet. 2010;154C:463-468. https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3022344/

Elsea SH, Girirajan S. Smith-Magenis syndrome. Eur J Hum Genet. 2008;16:412-421. https://www.ncbi.nlm.nih.gov/pubmed/18231123

Gropman AL, Elsea S, Duncan WC Jr., Smith AC. New developments in Smith-Magenis syndrome (del 17p11.2). Curr Opin Neurol. 2007;20:125-134. https://www.ncbi.nlm.nih.gov/pubmed/17351481

Gropman A, Duncan W. Neurologic and developmental features of the Smith-Magenis syndrome (del 17p11.2). Pediatr Neurol. 2006;34:337-350. https://www.ncbi.nlm.nih.gov/pubmed/16647992

De Leersnyder H. Inverted rhythm of melatonin secretion in Smith-Magenis syndrome: from symptoms to treatment. Trends Endocrinol Metab. 2006;17:291-298. https://www.ncbi.nlm.nih.gov/pubmed/16890450

Girirajan S, Elsas LJ II, Devriendt K, Elsea S. RAI1 variations in Smith-Magenis syndrome patients without 17p11.2 deletions. J Med Genet. 2005;42:820-828. https://www.ncbi.nlm.nih.gov/pmc/articles/PMC1735950/

INTERNET

Smith ACM, Boyd KE, Brennan C, et al. Smith-Magenis Syndrome. 2001 Oct 22 [Updated 2022 Mar 10]. In: Adam MP, Feldman J, Mirzaa GM, et al., editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2024. Available from: https://www.ncbi.nlm.nih.gov/books/NBK1310/  Accessed Nov 19, 2024.

Smith-Magenis Syndrome. Orphanet. Nov 2020. Available at: https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=EN&Expert=819 Accessed Nov 19, 2024.

McKusick VA., ed. Online Mendelian Inheritance in Man (OMIM). Baltimore. MD: The Johns Hopkins University; Entry No:182290; Last Update: 10/05/2017. Available at: https://omim.org/entry/182290 Accessed Nov 19, 2024.

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Ensuring that patients and caregivers are armed with the tools they need to live their best lives while managing their rare condition is a vital part of NORD’s mission.

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Patient Organizations

PRISMS (Parents & Researchers Interested in Smith-Magenis Syndrome)

NORD Member

Email: [email protected]

Related Rare Diseases: Smith-Magenis Syndrome

https://rarediseases.org/organizations/prisms-parents-researchers-interested-in-smith-magenis-syndrome/

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Smith-magenis Syndrome Research Foundation

NORD Member

Email: [email protected]

Related Rare Diseases: Smith-Magenis Syndrome

https://rarediseases.org/organizations/smith-magenis-syndrome-research-foundation/

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Chromosome Disorder Outreach, Inc.

NORD Member

Email: [email protected]

Related Rare Diseases: MEF2C Deficiency, Triploidy, Trisomy 18, ...

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The Arc

Phone: 202-534-3700 Email: [email protected] Fax: 202-534-3731

Related Rare Diseases: Phelan-McDermid Syndrome, MEF2C Deficiency, Cerebral Folate Deficiency, ...

https://rarediseases.org/organizations/the-arc/

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American Society for Deaf Children

Phone: 866-895-4206 Email: [email protected] Fax: 410-795-0965

Related Rare Diseases: Perrault Syndrome, Pendred Syndrome, Auditory Neuropathy Spectrum Disorder, ...

https://rarediseases.org/organizations/american-society-for-deaf-children/

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Smith-Magenis Syndrome Foundation

Phone: 207-419-5007 Email: [email protected]

Related Rare Diseases: Smith-Magenis Syndrome

https://rarediseases.org/organizations/smith-magenis-syndrome-foundation/

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Taylor Bug Kisses Foundation

Phone: 309-451-1431 Email: [email protected]

Related Rare Diseases: Smith-Magenis Syndrome

https://rarediseases.org/organizations/taylor-bug-kisses-foundation/

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More Information

The information provided on this page is for informational purposes only. The National Organization for Rare Disorders (NORD) does not endorse the information presented. The content has been gathered in partnership with the MONDO Disease Ontology. Please consult with a healthcare professional for medical advice and treatment.

GARD Disease Summary

The Genetic and Rare Diseases Information Center (GARD) has information and resources for patients, caregivers, and families that may be helpful before and after diagnosis of this condition. GARD is a program of the National Center for Advancing Translational Sciences (NCATS), part of the National Institutes of Health (NIH).

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Orphanet

Orphanet has a summary about this condition that may include information on the diagnosis, care, and treatment as well as other resources. Some of the information and resources are available in languages other than English. The summary may include medical terms, so we encourage you to share and discuss this information with your doctor. Orphanet is the French National Institute for Health and Medical Research and the Health Programme of the European Union.

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OMIM

Online Mendelian Inheritance In Man (OMIM) has a summary of published research about this condition and includes references from the medical literature. The summary contains medical and scientific terms, so we encourage you to share and discuss this information with your doctor. OMIM is authored and edited at the McKusick-Nathans Institute of Genetic Medicine, Johns Hopkins University School of Medicine.

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