Freeman Sheldon syndrome

Información en español Title

Other Names:

FSS; Arthrogryposis distal type 2A; Whistling face-windmill vane hand syndrome; FSS; Arthrogryposis distal type 2A; Whistling face-windmill vane hand syndrome; Craniocarpotarsal dystrophy; Craniocarpotarsal dysplasia; DA2A; Distal arthrogryposis type 2A See More

Categories:

Congenital and Genetic Diseases

This disease is grouped under:

Distal arthrogryposis; Myosinopathies

Summary Summary

Freeman Sheldon syndrome is a disorder present from birth (congenital) characterized by joint deformities (contractures) that restrict movement in the hands and feet and abnormalities of the head and face. People with this syndrome have a small mouth (microstomia) with pursed lips, giving the appearance of a "whistling face." Other facial features may include a prominent forehead and brow ridges, a short nose and area between the nose and mouth, widely spaced eyes (hypertelorism), a narrowing of the eye opening (blepharophimosis), droopy eyelids (ptosis), and a small tongue (microglossia) and jaw (micrognathia). People with Freeman Sheldon syndrome often have speech, eating, and respiratory problems and may also experience hearing loss, and growth and development delay.^[1]^[2]^[3]^[4] Other symptoms include club foot, joint contracture, hand and feet defects, and scoliosis.^[4] There is an increased risk for individuals with this disorder to develop a severe reaction to certain drugs used during surgery (malignant hyperthermia).^[3]

Freeman Sheldon syndrome can be caused by mutations in the MYH3 gene; however, not all individuals have a mutation within this gene. Some cases are inherited in an autosomal dominant manner, while others are inherited in an autosomal recessive manner, and still others occur randomly with no apparent cause (sporadically).^[1]^[3] Although there is no specific treatment or cure, it is possible to manage the symptoms. A team of doctors or specialists is often needed to figure out the treatment options for each person.^[1]

Last updated: 2/13/2018

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 the dentition	Abnormal dentition Abnormal teeth Dental abnormalities Dental abnormality [ more ]	0000164
Camptodactyly of finger	Permanent flexion of the finger	0100490
Depressed nasal ridge	Flat nose Recessed nasal ridge [ more ]	0000457
Dimple chin	Chin butt Chin dent Chin dimple Chin skin dimple Indentation of chin [ more ]	0010751
Downslanted palpebral fissures	Downward slanting of the opening between the eyelids	0000494
Failure to thrive	Faltering weight Weight faltering [ more ]	0001508
Feeding difficulties in infancy		0008872
Hypertelorism	Wide-set eyes Widely spaced eyes [ more ]	0000316
Joint stiffness	Stiff joint Stiff joints [ more ]	0001387
Narrow mouth	Small mouth	0000160
Scoliosis	Abnormal curving of the spine	0002650
Talipes equinovarus	Club feet Club foot Clubfeet Clubfoot [ more ]	0001762
Ulnar deviation of finger	Finger bends toward pinky	0009465
Underdeveloped nasal alae	Underdeveloped tissue around nostril	0000430
Wide nasal bridge	Broad nasal bridge Broad nasal root Broadened nasal bridge Increased breadth of bridge of nose Increased breadth of nasal bridge Increased width of bridge of nose Increased width of nasal bridge Nasal bridge broad Wide bridge of nose Widened nasal bridge [ more ]	0000431
30%-79% of people have these symptoms
Cryptorchidism	Undescended testes Undescended testis [ more ]	0000028
Deeply set eye	Deep set eye Deep-set eyes Sunken eye [ more ]	0000490
Hearing impairment	Deafness Hearing defect [ more ]	0000365
Long philtrum		0000343
Malignant hyperthermia		0002047
Nasal speech	Nasal voice	0001611
Neurological speech impairment	Speech disorder Speech impairment Speech impediment [ more ]	0002167
Prenatal movement abnormality		0001557
Ptosis	Drooping upper eyelid	0000508
Short stature	Decreased body height Small stature [ more ]	0004322
Strabismus	Cross-eyed Squint Squint eyes [ more ]	0000486
5%-29% of people have these symptoms
Absent palmar crease	Absent palm lines	0010489
Hernia		0100790
Oligohydramnios	Low levels of amniotic fluid	0001562
Polyhydramnios	High levels of amniotic fluid	0001561
1%-4% of people have these symptoms
Intellectual disability	Mental deficiency Mental retardation Mental retardation, nonspecific Mental-retardation [ more ]	0001249
Percent of people who have these symptoms is not available through HPO
Abnormal auditory evoked potentials		0006958
Abnormality of the skin		0000951
Adducted thumb	Inward turned thumb	0001181
Arthrogryposis multiplex congenita		0002804
Autosomal dominant inheritance		0000006
Autosomal recessive inheritance		0000007
Blepharophimosis	Narrow opening between the eyelids	0000581
Breech presentation	Feet or buttocks of fetus positioned near opening of uterus	0001623
Camptodactyly	Permanent flexion of the finger or toe	0012385
Cerebellar atrophy	Degeneration of cerebellum	0001272
Chin with H-shaped crease	Chin, H-Shaped Crease Chin, H-shaped groove H-shaped dimple of the chin [ more ]	0011824
Epicanthus	Eye folds Prominent eye folds [ more ]	0000286
Fever		0001945
Flat face	Flat facial shape	0012368
Flexion contracture of toe		0005830
High palate	Elevated palate Increased palatal height [ more ]	0000218
Hip contracture		0003273
Hip dislocation	Dislocated hips Dislocation of hip [ more ]	0002827
Hypoplasia of the brainstem	Small brainstem Underdeveloped brainstem [ more ]	0002365
Inguinal hernia		0000023
Joint contracture of the hand		0009473
Knee flexion contracture		0006380
Kyphoscoliosis		0002751
Malar flattening	Zygomatic flattening	0000272
Mandibular prognathia	Big lower jaw Increased projection of lower jaw Increased size of lower jaw Large lower jaw Prominent chin Prominent lower jaw [ more ]	0000303
Mask-like facies	Expressionless face Lack of facial expression Mask-like facial appearance [ more ]	0000298
Microcephaly	Abnormally small skull Decreased circumference of cranium Decreased size of skull Reduced head circumference Small head circumference [ more ]	0000252
Muscle weakness	Muscular weakness	0001324
Postnatal growth retardation	Growth delay as children	0008897
Prominent forehead	Pronounced forehead Protruding forehead [ more ]	0011220
Rocker bottom foot	Rocker bottom feet Rocker-bottom feet Rockerbottom feet [ more ]	0001838
Seizures	Seizure	0001250
Short neck	Decreased length of neck	0000470
Short nose	Decreased length of nose Shortened nose [ more ]	0003196
Shoulder flexion contracture		0003044
Small for gestational age	Birth weight less than 10th percentile Low birth weight [ more ]	0001518
Spina bifida occulta		0003298
Telecanthus	Corners of eye widely separated	0000506
Ulnar deviation of the hand or of fingers of the hand		0001193
Whistling appearance	Whistling facial appearance	0000346

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Do you have more information about symptoms of this disease? We want to hear from you.

Last updated: 11/1/2018

Do you have updated information on this disease? We want to hear from you.

Diagnosis Diagnosis

Freeman Sheldon syndrome may be suspected based on medical history and physical examination which reveal characteristic facial features.^[5] Imaging studies, such as CT scan and X-ray be be helpful to determine the presence and severity of features. Genetic testing may be useful to confirm a suspected diagnosis; however, not all individuals with Freeman Sheldon syndrome have a mutation in the MYH3 gene.^[1]

Last updated: 2/13/2018

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.

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

ClinicalTrials.gov lists trials that are related to Freeman Sheldon syndrome. Click on the link to go to ClinicalTrials.gov to read descriptions of these studies.

Please note: Studies listed on the ClinicalTrials.gov website are listed for informational purposes only; being listed does not reflect an endorsement by GARD or the NIH. We strongly recommend that you talk with a trusted healthcare provider before choosing to participate in any clinical study.

Organizations Organizations

Support and advocacy groups can help you connect with other patients and families, and they can provide valuable services. Many develop patient-centered information and are the driving force behind research for better treatments and possible cures. They can direct you to research, resources, and services. Many organizations also have experts who serve as medical advisors or provide lists of doctors/clinics. Visit the group’s website or contact them to learn about the services they offer. Inclusion on this list is not an endorsement by GARD.

Organizations Supporting this Disease

FACES: The National Craniofacial Association
PO Box 11082
Chattanooga, TN 37401
Toll-free: 800-332-2373
Telephone: 423-266-1632
E-mail: faces@faces-cranio.org
Website: http://www.faces-cranio.org/
Freeman-Sheldon Research Group, Inc.
Website: http://www.fsrgroup.org/

Do you know of an organization? We want to hear from you.

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

FACES: The National Craniofacial Association offers an information page on Freeman Sheldon syndrome. Please click on the link to access this resource.
Genetics Home Reference (GHR) contains information on Freeman Sheldon 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

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.
Orphanet
Orphanet
PubMed is a searchable database of medical literature and lists journal articles that discuss Freeman Sheldon syndrome. Click on the link to view a sample search on this topic.

News & Events News & Events

News

The NIH Undiagnosed Diseases Network Expands
September 26, 2018

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