The Human Phenotype Ontology (HPO) provides the following list of features that have been reported in people with this condition. Much of the information in the HPO comes from Orphanet, a European rare disease database. If available, the list includes a rough estimate of how common a feature is (its frequency). Frequencies are based on a specific study and may not be representative of all studies. You can use the MedlinePlus Medical Dictionary for definitions of the terms below.
| Signs and Symptoms | Approximate number of patients (when available) |
| Abnormality of the teeth | Very frequent (present in 80%-99% of cases) |
| Camptodactyly of finger | Very frequent (present in 80%-99% of cases) |
| Chin dimple | Very frequent (present in 80%-99% of cases) |
| Depressed nasal ridge | Very frequent (present in 80%-99% of cases) |
| Downslanted palpebral fissures | Very frequent (present in 80%-99% of cases) |
| Failure to thrive | Very frequent (present in 80%-99% of cases) |
| Feeding difficulties in infancy | Very frequent (present in 80%-99% of cases) |
| Hypertelorism | Very frequent (present in 80%-99% of cases) |
| Joint stiffness | Very frequent (present in 80%-99% of cases) |
| Narrow mouth | Very frequent (present in 80%-99% of cases) |
| Scoliosis | Very frequent (present in 80%-99% of cases) |
| Talipes equinovarus | Very frequent (present in 80%-99% of cases) |
| Ulnar deviation of finger | Very frequent (present in 80%-99% of cases) |
| Underdeveloped nasal alae | Very frequent (present in 80%-99% of cases) |
| Wide nasal bridge | Very frequent (present in 80%-99% of cases) |
| Cryptorchidism | Frequent (present in 30%-79% of cases) |
| Deeply set eye | Frequent (present in 30%-79% of cases) |
| Hearing impairment | Frequent (present in 30%-79% of cases) |
| Long philtrum | Frequent (present in 30%-79% of cases) |
| Malignant hyperthermia | Frequent (present in 30%-79% of cases) |
| Nasal speech | Frequent (present in 30%-79% of cases) |
| Neurological speech impairment | Frequent (present in 30%-79% of cases) |
| Prenatal movement abnormality | Frequent (present in 30%-79% of cases) |
| Ptosis | Frequent (present in 30%-79% of cases) |
| Strabismus | Frequent (present in 30%-79% of cases) |
| Absent palmar crease | Occasional (present in 5%-29% of cases) |
| Hernia | Occasional (present in 5%-29% of cases) |
| Oligohydramnios | Occasional (present in 5%-29% of cases) |
| Polyhydramnios | Occasional (present in 5%-29% of cases) |
| Intellectual disability | Very rare (present in 1%-4% of cases) |
| Abnormal auditory evoked potentials | - |
| Abnormality of the skin | - |
| Adducted thumb | - |
| Autosomal dominant inheritance | - |
| Autosomal recessive inheritance | - |
| Blepharophimosis | - |
| Breech presentation | - |
| Camptodactyly | - |
| Cerebellar atrophy | - |
| Chin with H-shaped crease | - |
| Epicanthus | - |
| Fever | - |
| Flat face | - |
| Flexion contracture of toe | - |
| High palate | - |
| Hip contracture | - |
| Hip dislocation | - |
| Hypoplasia of the brainstem | - |
| Inguinal hernia | - |
| Joint contracture of the hand | - |
| Knee flexion contracture | - |
| Kyphoscoliosis | - |
| Malar flattening | - |
| Mask-like facies | - |
| Microcephaly | - |
| Postnatal growth retardation | - |
| Prominent forehead | - |
| Rocker bottom foot | - |
| Seizures | - |
| Short neck | - |
| Short nose | - |
| Shoulder flexion contracture | - |
| Small for gestational age | - |
| Spina bifida occulta | - |
| Telecanthus | - |
| Ulnar deviation of the hand or of fingers of the hand | - |
| Whistling appearance | - |
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.
Nonprofit support and advocacy groups bring together patients, families, medical professionals, and researchers. These groups often raise awareness, provide support, and develop patient-centered information. Many are the driving force behind research for better treatments and possible cures. They can direct people to research, resources, and services. Many groups also have experts who serve as medical advisors. Visit their website or contact them to learn about the services they offer. Inclusion on this list is not an endorsement by GARD.
Living with a genetic or rare disease can impact the daily lives of patients and families. These resources can help families navigate various aspects of living with a rare 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.
The following diseases are related to Freeman Sheldon syndrome. If you have a question about any of these diseases, you can contact GARD.
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Is prenatal diagnosis possible with Freeman Sheldon syndrome? See answer
