National Center for Advancing and Translational Sciences Genetic and Rare Diseases Information Center, a program of the National Center for Advancing and Translational Sciences

Freeman Sheldon syndrome

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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:
This disease is grouped under:
Distal arthrogryposis; Myosinopathies
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

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 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 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
Hearing defect
Deafness
[ 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
Squint
Squint eyes
Cross-eyed
[ 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
Arthralgia
Joint pain
0002829
Decreased fetal movement
Less than 10 fetal movements in 12 hours
0001558
Dental crowding
Crowded teeth
Dental overcrowding
Overcrowding of teeth
[ more ] 		0000678
Elbow flexion contracture
Contractures of elbows
Elbow contracture
Elbow contractures
[ more ] 		0002987
Flexion contracture of finger 0012785
Hip contracture 0003273
Intellectual disability
Mental deficiency
Mental retardation
Mental retardation, nonspecific
Mental-retardation
[ more ] 		0001249
Joint dislocation
Joint dislocations
Recurrent joint dislocations
[ more ] 		0001373
Knee flexion contracture 0006380
Motor delay 0001270
Recurrent fractures
Increased fracture rate
Increased fractures
Multiple fractures
Multiple spontaneous fractures
Varying degree of multiple fractures
[ more ] 		0002757
Recurrent respiratory infections
Frequent respiratory infections
Multiple respiratory infections
respiratory infections, recurrent
Susceptibility to respiratory infections
[ more ] 		0002205
Restricted neck movement due to contractures
Restricted neck mobility due to contractures
0005997
Wrist flexion contracture 0001239
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
Autosomal dominant inheritance 0000006
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
Flat face
Flat facial shape
0012368
Flexion contracture of toe 0005830
High palate
Elevated palate
Increased palatal height
[ more ] 		0000218
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
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
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
Showing of 79 |
Last updated: 7/1/2020
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.

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

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.

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

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

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.

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.

  1. Freeman Sheldon Syndrome. National Organization for Rare Disorders (NORD). 2007; http://www.rarediseases.org/search/rdbdetail_abstract.html?disname=Freeman%20Sheldon%20Syndrome.
  2. Freeman-Sheldon Syndrome. The National Craniofacial Association. 2/12/2016; http://www.faces-cranio.org/Disord/Freeman.htm.
  3. Freeman-Sheldon syndrome. Genetics Home Reference. September 2010; https://ghr.nlm.nih.gov/condition/freeman-sheldon-syndrome.
  4. Sindrome de Freeman Sheldon. Orphanet. 2005; http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=ES&Expert=2053.
  5. Freeman-Sheldon syndrome. Orphanet. 2005; http://www.orpha.net/data/patho/GB/uk-FreemanSheldon.pdf.