Coffin-Siris Syndrome - About The Disease

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• Coffin-Siris syndrome

Coffin-Siris syndromeOther Names: CSS; dwarfism-onychodysplasia; fifth digit syndrome; short stature-onychodysplasia.CSS; dwarfism-onychodysplasia; fifth digit syndrome; short stature-onychodysplasia. Read More Read Less

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Summary

Coffin-Siris syndrome is a genetic condition that causes variable degrees of learning disability, developmental delays, underdeveloped 'pinky' toenails or fingernails, and distinct facial features. It can be caused by a change in any of several genes including the ARID1A, ARID1B, SMARCA4, SMARCB1, DPF2 or SMARCE1 genes. Coffin-Siris syndrome follows an autosomal dominant pattern of inheritance, however it usually occurs for the first time in a family due to a new genetic change. Occupational, physical, and/or speech therapy can help affected individuals reach their full potential.

Summary

Coffin-Siris syndrome is a genetic condition that causes variable degrees of learning disability, developmental delays, underdeveloped 'pinky' toenails or fingernails, and distinct facial features. It can be caused by a change in any of several genes including the ARID1A, ARID1B, SMARCA4, SMARCB1, DPF2 or SMARCE1 genes. Coffin-Siris syndrome follows an autosomal dominant pattern of inheritance, however it usually occurs for the first time in a family due to a new genetic change. Occupational, physical, and/or speech therapy can help affected individuals reach their full potential.Coffin-Siris syndrome is a genetic condition that causes variable degrees of learning disability, developmental delays, underdeveloped 'pinky' toenails or fingernails, and distinct facial features. It can be caused by a change in any of several genes including the ARID1A, ARID1B, SMARCA4, SMARCB1, DPF2 or SMARCE1 genes. Coffin-Siris syndrome follows an autosomal dominant pattern of inheritance, however it usually occurs for the first time in a family due to a new genetic change. Occupational, physical, and/or speech therapy can help affected individuals reach their full potential. Read More Read Less Resource(s) for Medical Professionals and Scientists on This Disease:

• RARe-SOURCE™ offers rare disease gene variant annotations and links to rare disease gene literature.
• GeneReview provides clinical information on genetic diseases, including diagnosis, treatment, and genetic counseling.

About Coffin-Siris syndrome

Many rare diseases have limited information. Currently, GARD aims to provide the following information for this disease:

• Population Estimate:Fewer than 1,000 people in the U.S. have thisdisease.
• Symptoms:May start to appear during Pregnancy and as a Newborn.
• Cause:This disease is caused by a change in the genetic material (DNA).
• Organizations:Patient organizations dedicated to this rare disease are available on GARD, or you may contact a GARD Information Specialist for additional information.
• Categories:GeneticdiseasesNeurologicaldiseasesBirthdefects

Causes

What Causes This Disease?

• Genetic Mutations
• Known Genetic Mutations

Genetic MutationsCoffin-Siris syndrome is caused by genetic mutations, also known as pathogenic variants. Genetic mutations can be hereditary, when parents pass them down to their children, or they may occur randomly when cells are dividing. Genetic mutations may also result from contracted viruses, environmental factors, such as UV radiation from sunlight exposure, or a combination of any of these. Learn more about genetic diseases from the National Library of Medicine (NLM).If you suspect you may have this disease, you may want to start collecting your family health history. Information such as other family members who have had similar symptoms, when their/your symptoms first appeared, or exposures to any potential disease-causing environmental factors should be discussed with your medical team. This tool from the Surgeon General can help you collect your family health history.

• Genetic Mutations
• Known Genetic Mutations

Can diseases be passed down from parent to child?

A biological parent can sometimes pass down genetic changes, called mutations, that cause a disease or increase the chances of developing it. This is called inheritance. Knowing if other family members have had the disease, also known as your family health history, can give your medical team important information. The Surgeon General offers a tool to help you collect your family health history.

• Autosomal Dominant

Autosomal DominantAutosomal means the gene involved is located on one of the numbered chromosomes. Dominant means that a child only needs to inherit one copy of the mutated gene, from either biological parent, to be affected by the disease.People affected by an autosomal dominant disease have a 50% chance of passing on the mutated gene to their biological child.Learn more about inheritance patterns from the National Library of Medicine (NLM).

• Autosomal Dominant

When Do Symptoms of Coffin-Siris syndrome Begin?

Symptoms of this disease may start to appear during Pregnancy and as a Newborn.The age symptoms may begin to appear differs between diseases. Symptoms may begin in a single age range, or during several age ranges. The symptoms of some diseases may begin at any age. Knowing when symptoms may have appeared can help medical providers find the correct diagnosis. Prenatal SelectedBefore Birth Newborn SelectedBirth-4 weeks Infant 1-23 months Child 2-11 years Adolescent 12-18 years Adult 19-65 years Older Adult 65+ yearsSymptoms may start to appear during Pregnancy and as a Newborn.This information comes from Orphanet Symptoms The types of symptoms experienced, and their intensity, may vary among people with this disease. Your experience may be different from others. Consult your health care team for more information.The following describes the symptom(s) associated with this disease along with the corresponding body system(s), description, synonyms, and frequency (Note: Not all possible symptoms may be listed):

65 Symptoms

Abnormal Facial ShapeSynonym: Abnormal Facial ShapeSynonym: Abnormal Morphology of The FaceSynonym: Distinctive FaciesSynonym: Dysmorphic Facial FeaturesSynonym: Dysmorphic FaciesSynonym: Facial DysmorphismSynonym: Unusual Facial AppearanceSynonym: Unusual FaciesAbnormal Heart MorphologySynonym: Abnormality of Cardiac MorphologySynonym: Abnormality of The HeartSynonym: Abnormally Shaped HeartSynonym: Cardiac AbnormalitySynonym: Cardiac AnomaliesSynonym: Cardiac AnomalySynonym: Congenital Heart DefectSynonym: Congenital Heart DefectsSynonym: Heart DefectAbnormality of The Genitourinary SystemSynonym: Abnormality of The Gu SystemSynonym: Genitourinary AbnormalitySynonym: Genitourinary Tract AnomaliesSynonym: Genitourinary Tract MalformationSynonym: Urogenital AbnormalitiesSynonym: Urogenital AnomaliesAbsent SpeechSynonym: Absent Speech DevelopmentSynonym: Lack of Language DevelopmentSynonym: Lack of SpeechSynonym: No Speech DevelopmentSynonym: No Speech or Language DevelopmentSynonym: NonverbalAgenesis of Corpus CallosumSynonym: Absence of Corpus CallosumSynonym: Absent Corpus CallosumSynonym: Agenesis of The Corpus CallosumSynonym: Callosal AgenesisSynonym: Corpus Callosum AgenesisSynonym: Dysplastic or Absent Corpus CallosumAggressive BehaviorSynonym: AggressionSynonym: Aggressive BehaviorSynonym: AggressivenessAnteverted NaresSynonym: Anteverted NoseSynonym: Anteverted NostrilsSynonym: Nasal Tip, UpturnedSynonym: Nostrils AntevertedSynonym: Upturned NaresSynonym: Upturned Nasal TipSynonym: Upturned NoseSynonym: Upturned NostrilsAspiration PneumoniaAtrial Septal DefectSynonym: An Opening in The Wall Separating The Top Two Chambers of The HeartSynonym: AsdSynonym: Atria Septal DefectSynonym: Atrial Septum DefectSynonym: Atrioseptal DefectSynonym: Defect in The Atrial SeptumSynonym: Hole in Heart Wall Separating Two Upper Heart ChambersAtypical BehaviorSynonym: Behavioral AbnormalitySynonym: Behavioral ChangesSynonym: Behavioral DisordersSynonym: Behavioral DisturbancesSynonym: Behavioral ProblemsSynonym: Behavioral SymptomsSynonym: Behavioral/Psychiatric AbnormalitiesSynonym: Behavioural SymptomsSynonym: Behavioural/Psychiatric AbnormalitySynonym: Behavioural/Psychiatric AbnormalitySynonym: Psychiatric DisordersSynonym: Psychiatric DisturbancesAutistic BehaviorSynonym: AsdSynonym: Pervasive Developmental DisorderBroad Nasal TipSynonym: Broad Nasal TipSynonym: Broad Tip of NoseSynonym: Broad, Upturned NoseSynonym: Increased Breadth of Nasal TipSynonym: Increased Breadth of Tip of NoseSynonym: Increased Width of Nasal TipSynonym: Increased Width of Tip of NoseSynonym: Nasal Tip, BroadSynonym: Nasal Tip, WideSynonym: Wide Tip of NoseBroad PhiltrumSynonym: Increased Breadth of PhiltrumSynonym: Increased Horizontal Dimension of PhiltrumSynonym: Increased Transverse Dimension of PhiltrumSynonym: Increased Width of PhiltrumSynonym: Wide PhiltrumClinodactylySynonym: Permanent Curving of The FingerCoarse Facial FeaturesSynonym: Coarse FaceSynonym: Coarse Facial AppearanceSynonym: Coarse Facial FeaturesSynonym: Coarse FaciesCryptorchidismSynonym: CryptorchismSynonym: Undescended TestesSynonym: Undescended TestisDandy-Walker MalformationSynonym: Dandy-Walker AnomalySynonym: Dandy-Walker CystDelayed Eruption of TeethSynonym: Delayed Dental DevelopmentSynonym: Delayed Dental EruptionSynonym: Delayed EruptionSynonym: Delayed Eruption of TeethSynonym: Delayed Teeth EruptionSynonym: Delayed Tooth EruptionSynonym: Eruption, DelayedSynonym: Late Eruption of TeethSynonym: Late Tooth EruptionDelayed Skeletal MaturationSynonym: Delayed Bone AgeSynonym: Delayed Bone Age before PubertySynonym: Delayed Bone MaturationSynonym: Delayed Skeletal DevelopmentSynonym: Retarded Bone AgeSynonym: Skeletal Maturation RetardationDepressed Nasal BridgeSynonym: Depressed Bridge of NoseSynonym: Depressed Nasal BridgeSynonym: Depressed Nasal RootSynonym: Flat Bridge of NoseSynonym: Flat Nasal BridgeSynonym: Flat Nasal RootSynonym: Flat, Nasal BridgeSynonym: Flattened Nasal BridgeSynonym: Low Nasal BridgeSynonym: Low Nasal RootSynonym: Retruded Bridge of NoseSynonym: Retruded Nasal BridgeFeeding DifficultiesSynonym: Decreased Oral IntakeSynonym: Feeding DifficultiesSynonym: Feeding ProblemsSynonym: Poor FeedingFloppy InfantSynonym: Decreased Muscle Tone in InfantSynonym: Hypotonia EarlySynonym: Hypotonia in InfancySynonym: Hypotonia, EarlySynonym: Infantile HypotoniaSynonym: Infantile Muscular HypotoniaGrowth DelaySynonym: Delayed GrowthSynonym: Growth DeficiencySynonym: Growth DelaySynonym: Growth FailureSynonym: Growth RetardationSynonym: Poor GrowthSynonym: Retarded GrowthHearing ImpairmentSynonym: DeafnessSynonym: Hearing DefectSynonym: Hearing ImpairmentSynonym: HypacusisHepatoblastomaHerniaHirsutismSynonym: Excessive HairinessHorseshoe KidneySynonym: Horseshoe KidneySynonym: Horseshoe KidneysHyperactivitySynonym: Hyperactive BehaviorSynonym: Hyperkinetic DisorderSynonym: Hyperkinetic DisorderSynonym: More Active Than TypicalHypertrichosisHypoplastic Fifth FingernailSynonym: Underdeveloped Fifth FingernailSynonym: Underdeveloped Fingernail of Little FingerSynonym: Underdeveloped Fingernail of Pinkie FingerSynonym: Underdeveloped Fingernail of Pinky FingerHypoplastic Fifth ToenailSynonym: Small Fifth ToenailSynonym: Underdeveloped Fifth ToenailHypospadiasSynonym: HypospadiaIntellectual Disability, ModerateSynonym: Iq between 34 and 49Synonym: Mental Retardation, ModerateSynonym: Moderate Mental DeficiencySynonym: Moderate Mental RetardationIntellectual Disability, SevereSynonym: Early and Severe Mental RetardationSynonym: Intellectual Disability, SevereSynonym: Mental Retardation, SevereSynonym: Severe Mental RetardationIntrauterine Growth RetardationSynonym: Fetal Growth RestrictionSynonym: FgrSynonym: In Utero Growth RetardationSynonym: Intrauterine Growth FailureSynonym: Intrauterine Growth RestrictionSynonym: Intrauterine Growth Retardation, IugrSynonym: Intrauterine RetardationSynonym: IugrSynonym: Prenatal Growth DeficiencySynonym: Prenatal Growth FailureSynonym: Prenatal Growth RetardationSynonym: Prenatal Onset Growth RetardationSynonym: Prenatal-Onset Growth RetardationSynonym: Small for Gestational Age InfantJoint HypermobilitySynonym: Double-JointedSynonym: Extensible JointsSynonym: Flexible JointsSynonym: Hyperextensible JointsSynonym: Increased Joint MobilitySynonym: Increased Mobility of JointsSynonym: Joint HyperextensibilitySynonym: Joint HyperflexibilitySynonym: Joint HyperlaxitySynonym: Joint LaxitySynonym: Joints Move Beyond Expected Range of MotionSynonym: Lax JointsSynonym: Loose-JointednessLow Anterior HairlineSynonym: Low Frontal HairlineSynonym: Low-Set Frontal HairlineMicrocephalySynonym: Abnormally Small CraniumSynonym: Abnormally Small SkullSynonym: Decreased Circumference of CraniumSynonym: Decreased Size of CraniumSynonym: Decreased Size of SkullSynonym: Reduced Head CircumferenceSynonym: Small CraniumSynonym: Small Head CircumferenceMyopiaSynonym: Close SightedSynonym: Near SightedSynonym: Near SightednessSynonym: NearsightednessOral AversionPapillary Thyroid CarcinomaSynonym: Papillary Carcinoma of ThyroidSynonym: Thyroid Papillary CarcinomaPatent Ductus ArteriosusSynonym: Ductus ArteriosusSynonym: Patent Ductus BotalliSynonym: PdaSynonym: Persistent Arterial DuctSynonym: Persistent Ductus ArteriosusPostnatal Growth RetardationSynonym: Growth Delay As ChildrenSynonym: Growth Retardation As ChildrenSynonym: Postnatal Growth DecelerationSynonym: Postnatal Growth DeficiencySynonym: Postnatal Growth FailureProminent EyelashesSynonym: Prominent EyelashesPtosisSynonym: BlepharoptosisSynonym: Drooping Upper EyelidSynonym: Eyelid PtosisSynonym: Palpebral PtosisRecurrent InfectionsSynonym: Frequent InfectionsSynonym: Frequent, Severe InfectionsSynonym: Increased Frequency of InfectionSynonym: Infections, RecurrentSynonym: Predisposition to InfectionsSynonym: Recurrent InfectionsSynonym: Susceptibility to InfectionRecurrent Upper Respiratory Tract InfectionsSynonym: Frequent Upper Respiratory InfectionsSynonym: Frequent Upper Respiratory Tract InfectionsSynonym: Recurrent ColdsSynonym: Recurrent Upper Respiratory and Lower Respiratory InfectionsSynonym: Recurrent Upper Respiratory InfectionSynonym: Recurrent Upper Respiratory InfectionsSynonym: Recurrent UriSynonym: Upper Respiratory Tract InfectionsSynonym: Upper Respiratory Tract Infections, RecurrentScoliosisSeizureSynonym: Epileptic SeizureSynonym: SeizuresShort 5th FingerSynonym: Fifth Finger BrachydactylySynonym: Hypoplastic Phalanges of The Little FingerSynonym: Hypoplastic/Small 5th FingerSynonym: Hypoplastic/Small Little FingerSynonym: Short 5th FingerSynonym: Short Fifth FingerSynonym: Short Fifth FingersSynonym: Short Little FingerSynonym: Short Phalanges of The Little FingerSynonym: Short Pinkie FingerSynonym: Short Pinky FingerShort NoseSynonym: Decreased Length of NoseSynonym: Hypoplastic NoseSynonym: Nasal HypoplasiaSynonym: Short NoseSynonym: Shortened NoseSimplified Gyral PatternSynonym: Cortical Gyral SimplificationSmall NailSynonym: Hypoplastic NailSynonym: Hypoplastic NailsSynonym: Nail HypoplasiaSynonym: Small NailSynonym: Small NailsSparse Scalp HairSynonym: Decreased Number of Scalp FolliclesSynonym: Hypotrichosis on ScalpSynonym: Reduced Amount of Scalp HairSynonym: Reduced/Lack of Hair on ScalpSynonym: Reduction in The Number of Scalp FolliclesSynonym: Scalp HypotrichosisSynonym: Sparse Scalp HairSynonym: Thinning Scalp HairStrabismusSynonym: Cross-EyedSynonym: SquintSynonym: Squint EyesTetralogy of FallotSynonym: Tetrology of FallotThick EyebrowSynonym: Bushy EyebrowsSynonym: Dense EyebrowSynonym: Heavy EyebrowsSynonym: Hypertrichosis of The EyebrowSynonym: Prominent EyebrowsSynonym: Thick EyebrowSynonym: Thick EyebrowsThick Lower Lip VermilionSynonym: Full Lower Lip VermilionSynonym: Increased Height of Lower Lip VermilionSynonym: Increased Volume of Lower LipSynonym: Increased Volume of Lower Lip VermilionSynonym: Plump Lower LipSynonym: Prominent Lower LipSynonym: Thick Vermilion Border of Lower LipThick Nasal AlaeSynonym: Ala Nasi, ThickSynonym: Thickening of The Alae NasiThin Upper Lip VermilionSynonym: Decreased Height of Upper Lip VermilionSynonym: Decreased Volume of Upper LipSynonym: Decreased Volume of Upper Lip VermilionSynonym: Thin Upper LipSynonym: Thin Vermilion Border of Upper LipVentricular Septal DefectSynonym: Hole in Heart Wall Separating Two Lower Heart ChambersSynonym: Ventricular Septal DefectsSynonym: Ventriculoseptal DefectSynonym: VsdVisual ImpairmentSynonym: Impaired VisionSynonym: Loss of EyesightSynonym: Poor VisionSynonym: Visual ImpairmentWide MouthSynonym: Broad MouthSynonym: Large MouthSynonym: Large Oral ApertureSynonym: MacrostomiaSynonym: Wide MouthWide Nasal BaseSynonym: Broad Base of NoseSynonym: Broad Nasal BaseSynonym: Increased Width of Base of NoseSynonym: Increased Width of Nasal BaseSynonym: Wide Base of NoseSynonym: Wide Nasal BaseFilter: All Systems

All Systems
• Cardiovascular System
• Digestive System
• Endocrine System
• Immune System
• Musculoskeletal System
• Nervous System
• Respiratory System
• Skin System

65 Symptoms

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65 Symptoms

Body Systems

Symptoms related to this disease may affect different systems of the body. Use the 'Filter and Sort' function to learn more about which body system(s) are affected by this disease and their associated symptom(s). Broad philtrum Clinodactyly

Medical Term

Coarse facial features

FrequencyUncommonVery frequentVery frequentAlwaysDescriptionAbsence of fine and sharp appearance of brows, nose, lips, mouth, and chin, usually because of rounded and heavy features or thickened skin with or without thickening of subcutaneous and bony tissues.SynonymCoarse face; Coarse facial appearance; Coarse facial features; Coarse facies Open detail view Cryptorchidism Dandy-Walker malformation 65 Symptoms Sort by: Medical Term Abnormal facial shape Abnormal heart morphology Abnormality of the genitourinary system Absent speech Agenesis of corpus callosum Aggressive behavior Anteverted nares Aspiration pneumonia Atrial septal defect Atypical behavior Autistic behavior Broad nasal tip Broad philtrum Clinodactyly Coarse facial features Cryptorchidism Dandy-Walker malformation Delayed eruption of teeth Delayed skeletal maturation Depressed nasal bridge Feeding difficulties Floppy infant Growth delay Hearing impairment Hepatoblastoma Hernia Hirsutism Horseshoe kidney Hyperactivity Hypertrichosis Hypoplastic fifth fingernail Hypoplastic fifth toenail Hypospadias Intellectual disability, moderate Intellectual disability, severe Intrauterine growth retardation Joint hypermobility Low anterior hairline Microcephaly Myopia Oral aversion Papillary thyroid carcinoma Patent ductus arteriosus Postnatal growth retardation Prominent eyelashes Ptosis Recurrent infections Recurrent upper respiratory tract infections Scoliosis Seizure Short 5th finger Short nose Simplified gyral pattern Small nail Sparse scalp hair Strabismus Tetralogy of Fallot Thick eyebrow Thick lower lip vermilion Thick nasal alae Thin upper lip vermilion Ventricular septal defect Visual impairment Wide mouth Wide nasal base This information comes from the Human Phenotype Ontology (HPO) Navigating Health Care Decisions On average, it can take more than six years to receive an accurate diagnosis. Many primary care providers (PCPs) may not be familiar with rare diseases, and patients often need to visit multiple specialists or seek second opinions to get answers.

If a diagnosis remains unclear, visiting a multidisciplinary care center or university hospital may help. These centers bring together teams of specialists who can work together to evaluate symptoms and coordinate a diagnosis. This team-based approach is also helpful after a diagnosis, when managing care for rare diseases.

Because only about 5% of rare diseases have FDA-approved treatments, finding the right healthcare team to manage your symptoms and overall health is essential. People living with rare diseases often face challenges such as delayed diagnosis, limited treatment options, and difficulty accessing knowledgeable providers. Building a care team that understands your needs can make a significant difference in your quality of life.

Your Health Care Team

Why is building the right health care team important?

Building the right health care team is key to the diagnosis, treatment, and management of your long-term health journey living with a rare disease. Start by choosing a primary care provider (PCP). Your PCP will be your main point of contact and help coordinate care with other medical professionals. Your PCP may order tests or refer you to specialists. To find a PCP near you, use the Medicare provider search tool and enter your location and “Primary Care Provider.”

Seeing multiple specialists is important for people with rare diseases because these conditions often affect many parts of the body and require care from doctors with different expertise. Most primary care providers may not be familiar with rare diseases, so involving specialists can lead to a more accurate diagnosis and better care. A coordinated team approach ensures that all symptoms are addressed and that care is well-managed. It can also connect patients with the latest research or treatment options.

A PCP that specializes in the care of children is called a pediatrician. Use this tool by the American Academy of Pediatrics to find a pediatrician in your area by inputting your location.These specialists may help in the diagnosis, management, and treatment of Coffin-Siris syndrome: How do you find bone and joint specialists (orthopedists or orthopedic surgeons)? Multidisciplinary Care Centers

Is It Time to Get a Second Opinion or Specialized Evaluation?

If you've visited your PCP, met with specialists, and undergone the recommended tests, but are still searching for a diagnosis, it may be time to visit an academic medical center or, for pediatric patients, a children's hospital. Academic medical centers and children's hospitals, often called multidisciplinary care centers, typically bring together specialists from different fields to work together on complex cases like rare diseases.

Multidisciplinary care centers may offer more coordinated care and be involved in clinical research, which may help reduce the time to diagnosis and provide access to emerging diagnostic tools. Specialists at these centers may have a deeper understanding of rare diseases and serve as a resource when you'd like a second opinion, particularly when test results or treatment plans are not delivering expected results.

Use this tool to find hospitals that may partner with medical schools and programs in your area.

Children’s hospitals and large teaching hospitals may also offer dedicated specialists and programs for pediatric patients with undiagnosed or rare diseases. These programs bring pediatric experts together in one place and may provide more coordinated care for your child.Use this tool to search for children’s or university hospitals in your area.

Multidisciplinary Care Centers

Is It Time to Get a Second Opinion or Specialized Evaluation?

If you've visited your PCP, met with specialists, and undergone the recommended tests, but are still searching for a diagnosis, it may be time to visit an academic medical center or, for pediatric patients, a children's hospital. Academic medical centers and children's hospitals, often called multidisciplinary care centers, typically bring together specialists from different fields to work together on complex cases like rare diseases.

Multidisciplinary care centers may offer more coordinated care and be involved in clinical research, which may help reduce the time to diagnosis and provide access to emerging diagnostic tools. Specialists at these centers may have a deeper understanding of rare diseases and serve as a resource when you'd like a second opinion, particularly when test results or treatment plans are not delivering expected results.

Use this tool to find hospitals that may partner with medical schools and programs in your area.

Children’s hospitals and large teaching hospitals may also offer dedicated specialists and programs for pediatric patients with undiagnosed or rare diseases. These programs bring pediatric experts together in one place and may provide more coordinated care for your child.Use this tool to search for children’s or university hospitals in your area.

Rare Disease Experts

How can you find a rare disease expert?

If a diagnosis, care management, or treatment plan remains unclear despite extensive efforts by your PCP and specialists, it may be time to find a rare disease expert for your disease, if available. A rare disease expert is a medical provider that has knowledge or training on specific rare disease(s), but there may only be a few experts in your state, region, or country. Rare disease experts may work at large research or teaching hospitals, sometimes called centers of excellence. Centers of Excellence commit to sharing knowledge and best practices that can lead to improved care and treatment for individuals living with a rare disease. You can also contact a GARD Information Specialist for help finding experts, centers of excellence, or clinics that focus on your disease.

You can ask your care providers for help finding an expert or use directory tools to search for experts near you. The following organization(s) may maintain a list of experts or expert centers for people living with Coffin-Siris syndrome:

• National Foundation for Ectodermal Dysplasias

Rare Disease Experts

How can you find a rare disease expert?

If a diagnosis, care management, or treatment plan remains unclear despite extensive efforts by your PCP and specialists, it may be time to find a rare disease expert for your disease, if available. A rare disease expert is a medical provider that has knowledge or training on specific rare disease(s), but there may only be a few experts in your state, region, or country. Rare disease experts may work at large research or teaching hospitals, sometimes called centers of excellence. Centers of Excellence commit to sharing knowledge and best practices that can lead to improved care and treatment for individuals living with a rare disease. You can also contact a GARD Information Specialist for help finding experts, centers of excellence, or clinics that focus on your disease.

You can ask your care providers for help finding an expert or use directory tools to search for experts near you. The following organization(s) may maintain a list of experts or expert centers for people living with Coffin-Siris syndrome:

• National Foundation for Ectodermal Dysplasias

Find Your Community How can patient organizations help?

Patient organizations can help patients and families connect. They build public awareness of the disease and are a driving force behind research to improve patients' lives. They may offer online and in-person resources to help people live well with their disease. Many collaborate with medical experts and researchers.Services of patient organizations differ, but may include:

• Ways to connect to others and share personal stories
• Easy-to-read information
• Up-to-date treatment and research information
• Patient registries
• Lists of specialists or specialty centers
• Financial aid and travel resources

Please note: GARD provides organizations for informational purposes only and not as an endorsement of their services. Contact a GARD Information Specialist for more information on organizations that may be dedicated to this disease. Please contact an organization directly if you have questions about the information or resources it provides.

View GARD's criteria for including patient organizations, which can be found under the FAQs on our About GARD page. Request an update or to have your organization added to GARD.

Patient Organizations

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7 Organizations

Organization Name

Who They Serve

Helpful Links

Country

Coffin-Siris Syndrome Foundation

People With

Coffin-Siris syndrome

Helpful Links

Country

United States

National Foundation for Ectodermal Dysplasias

People With

Coffin-Siris syndrome

Helpful Links

List of Experts

Country

United States

Simons Searchlight

People With

Coffin-Siris syndrome

Helpful Links

Research Registry

Country

United States

EveryLife Foundation for Rare Diseases

People With

Rare Diseases

Helpful Links

Country

United States

Genetic Alliance

People With

Rare Diseases

Helpful Links

Country

United States

Global Genes

People With

Rare Diseases

Helpful Links

Country

United States

National Organization for Rare Disorders

People With

Rare Diseases

Helpful Links

Country

United States

Participate in Research

Clinical studies are a part of clinical research and play an important role in medical advances for rare diseases. Through clinical studies, researchers may ultimately uncover better ways to treat, prevent, diagnose, and understand human diseases.

What Are Clinical Studies?

Clinical studies are medical research involving people as participants. There are two main types of clinical studies:

1. Clinical trials determine if a new test or treatment for a disease is effective and safe by comparing groups receiving different tests/treatments.
2. Observational studies involve recording changes over time among a specific group of people in their natural settings.

Learn more about clinical trials from this National Institutes of Health webpage.

Why Participate in Clinical Studies?

People participate in clinical trials for many reasons. People with a disease may participate to receive the newest possible treatment and additional care from clinical study staff as well as to help others living with the same or a similar disease. Healthy volunteers may participate to help others and to contribute to moving science forward.To find the right clinical study we recommend you consult your doctors, other trusted medical professionals, and patient organizations. Additionally, you can use ClinicalTrials.gov to search for clinical studies by disease, terms, or location.

What if There Are No Available Clinical Studies?

ResearchMatch helps connect people interested in research studies with researchers from top medical centers across the United States. Anyone from the U.S. can register with this free program funded by NIH. Researchers from participating institutions use the database to search for and invite patients or healthy volunteers who meet their study criteria to participate.

Why may you want to consider joining the All of Us Research Program?

The All of Us Research Program is inviting 1 million people from all backgrounds across the U.S. to help build one of the most diverse health databases in history. Researchers will use the data to learn how our biology, lifestyle, and environment affect health. This may one day help them find ways to treat and prevent diseases.

What Are Clinical Studies?

Clinical studies are medical research involving people as participants. There are two main types of clinical studies:

1. Clinical trials determine if a new test or treatment for a disease is effective and safe by comparing groups receiving different tests/treatments.
2. Observational studies involve recording changes over time among a specific group of people in their natural settings.

Learn more about clinical trials from this National Institutes of Health webpage.

Clinical studies are medical research involving people as participants. There are two main types of clinical studies:

1. Clinical trials determine if a new test or treatment for a disease is effective and safe by comparing groups receiving different tests/treatments.
2. Observational studies involve recording changes over time among a specific group of people in their natural settings.

Learn more about clinical trials from this National Institutes of Health webpage.

Read More Read Less

Why Participate in Clinical Studies?

People participate in clinical trials for many reasons. People with a disease may participate to receive the newest possible treatment and additional care from clinical study staff as well as to help others living with the same or a similar disease. Healthy volunteers may participate to help others and to contribute to moving science forward.To find the right clinical study we recommend you consult your doctors, other trusted medical professionals, and patient organizations. Additionally, you can use ClinicalTrials.gov to search for clinical studies by disease, terms, or location.People participate in clinical trials for many reasons. People with a disease may participate to receive the newest possible treatment and additional care from clinical study staff as well as to help others living with the same or a similar disease. Healthy volunteers may participate to help others and to contribute to moving science forward.To find the right clinical study we recommend you consult your doctors, other trusted medical professionals, and patient organizations. Additionally, you can use ClinicalTrials.gov to search for clinical studies by disease, terms, or location. Read More Read Less

What if There Are No Available Clinical Studies?

ResearchMatch helps connect people interested in research studies with researchers from top medical centers across the United States. Anyone from the U.S. can register with this free program funded by NIH. Researchers from participating institutions use the database to search for and invite patients or healthy volunteers who meet their study criteria to participate.

Why may you want to consider joining the All of Us Research Program?

The All of Us Research Program is inviting 1 million people from all backgrounds across the U.S. to help build one of the most diverse health databases in history. Researchers will use the data to learn how our biology, lifestyle, and environment affect health. This may one day help them find ways to treat and prevent diseases.

ClinicalTrials.gov, an affiliate of NIH, provides current information on clinical research studies in the United States and abroad. Talk to a trusted doctor before choosing to participate in any clinical study. We recommend checking this site often and searching for studies with related terms/synonyms to improve results.Search ClinicalTrials.gov for this disease.GARDGenetic and Rare Diseases Information CenterContact a GARD Information Specialist if you need help finding more information on this rare disease or available clinical studies. Please note that GARD cannot enroll individuals in clinical studies.1-888-205-2311Leave a detailed voice message and a GARD information specialist will respond to your inquiry. Contact GARD Use the contact form to send your questions to a GARD Information Specialist.Please allow 2 to 10 business days for us to respond.ClinicalTrials.gov, an affiliate of NIH, provides current information on clinical research studies in the United States and abroad. Talk to a trusted doctor before choosing to participate in any clinical study. We recommend checking this site often and searching for studies with related terms/synonyms to improve results.Search ClinicalTrials.gov for this disease.GARDGenetic and Rare Diseases Information CenterContact a GARD Information Specialist if you need help finding more information on this rare disease or available clinical studies. Please note that GARD cannot enroll individuals in clinical studies.1-888-205-2311Leave a detailed voice message and a GARD information specialist will respond to your inquiry.Contact GARD Use the contact form to send your questions to a GARD Information Specialist.Please allow 2 to 10 business days for us to respond. View Sources & References

GARD collects data from a variety of sources to populate its website and provide accurate and reliable information on rare diseases. GARD uses data collected from Orphanet, Online Mendelian Inheritance in Man (OMIM) , and Mondo Disease Ontology to interpret and provide information on rare diseases. This includes names, synonyms, genes, symptom frequency, population estimates and more.

• Orphanet is an online database of rare diseases and orphan drugs that provides aggregated data coordinated by INSERM-US14 in Paris.
• OMIM is a database of human genes and genetic phenotypes authored and edited at the McKusick-Nathans Institute of Genetic Medicine , Johns Hopkins University School of Medicine.
• Mondo Disease Ontology provides a logic-based structure unifying multiple disease resources in coordination with the Human Phenotype Ontology (HPO) and support from the NIH National Human Genome Research Institute Phenomics First Resource.

GARD uses the Human Phenotype Ontology (HPO) for standard terminology to represent a disease's phenotypic and clinical features.

• Download ontology from HPO
• Learn more about HPO

GARD uses information gathered from the National Center for Biotechnology Information's MedGen to help in explaining genetic and rare diseases.

• Download MedGen Data and FTP

GARD uses the National Library of Medicine for a variety of resources on health information.

• Learn about the Newborn Screening Coding and Terminology Guide
• Find health information from MedlinePlus
• Learn about the Unified Medical Language System

GARD uses additional resources when developing content.

• Review details of "Improving Diagnosis in Health Care"
• Learn about practices GARD follows when developing easy-to-understand content

Last Updated: December 2025