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) |
| Camptodactyly of finger | 90% |
| Gait disturbance | 90% |
| Limitation of joint mobility | 90% |
| Adducted thumb | 50% |
| Cognitive impairment | 50% |
| Cryptorchidism | 50% |
| Dolichocephaly | 50% |
| Kyphosis | 50% |
| Long philtrum | 50% |
| Muscular hypotonia | 50% |
| Narrow chest | 50% |
| Proximal placement of thumb | 50% |
| Scoliosis | 50% |
| Short neck | 50% |
| Short nose | 50% |
| Single transverse palmar crease | 50% |
| Abnormality of the fingernails | 7.5% |
| Abnormality of the nipple | 7.5% |
| Hypoplasia of penis | 7.5% |
| Macrotia | 7.5% |
| Open mouth | 7.5% |
| Ptosis | 7.5% |
| Sacrococcygeal pilonidal abnormality | 7.5% |
| Seizures | 7.5% |
| Strabismus | 7.5% |
| Thickened nuchal skin fold | 7.5% |
| Abnormality of metabolism/homeostasis | - |
| Areflexia | - |
| Decreased fetal movement | - |
| Degeneration of anterior horn cells | - |
| Facial palsy | - |
| Hypospadias | - |
| Inguinal hernia | - |
| Micropenis | - |
| Multiple joint contractures | - |
| Myopathic facies | - |
| Myopathy | - |
| Respiratory insufficiency due to muscle weakness | - |
| Severe muscular hypotonia | - |
| Spinal muscular atrophy | - |
| Tongue fasciculations | - |
| X-linked recessive inheritance | - |
Making a diagnosis for a genetic or rare disease can often be challenging. Healthcare professionals typically look at a person’s medical history, symptoms, physical exam, and laboratory test results in order to make a diagnosis. The following resources provide information relating to diagnosis and testing for this condition. If you have questions about getting a diagnosis, you should contact a healthcare professional.
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.
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