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) |
| Death in infancy | Very frequent (present in 80%-99% of cases) |
| Feeding difficulties in infancy | Very frequent (present in 80%-99% of cases) |
| Joint stiffness | Very frequent (present in 80%-99% of cases) |
| Microcephaly | Very frequent (present in 80%-99% of cases) |
| Micrognathia | Very frequent (present in 80%-99% of cases) |
| Prominent nose | Very frequent (present in 80%-99% of cases) |
| Severe global developmental delay | Very frequent (present in 80%-99% of cases) |
| Severe postnatal growth retardation | Very frequent (present in 80%-99% of cases) |
| Sloping forehead | Very frequent (present in 80%-99% of cases) |
| Camptodactyly of finger | Frequent (present in 30%-79% of cases) |
| Clinodactyly of the 5th finger | Frequent (present in 30%-79% of cases) |
| Cryptorchidism | Frequent (present in 30%-79% of cases) |
| Rocker bottom foot | Frequent (present in 30%-79% of cases) |
| Severe intrauterine growth retardation | Frequent (present in 30%-79% of cases) |
| Abnormal lung lobation | Occasional (present in 5%-29% of cases) |
| Abnormality of cardiovascular system morphology | Occasional (present in 5%-29% of cases) |
| Oral cleft | Occasional (present in 5%-29% of cases) |
| Seizures | Occasional (present in 5%-29% of cases) |
| Ventriculomegaly | Occasional (present in 5%-29% of cases) |
| Abnormal joint morphology | - |
| Autosomal recessive inheritance | - |
| Small for gestational age | - |
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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