Orpha Number: 93274
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 metaphysis | Very frequent (present in 80%-99% of cases) |
| Aplasia/Hypoplasia of the lungs | Very frequent (present in 80%-99% of cases) |
| Very frequent (present in 80%-99% of cases) |
|
| Cloverleaf skull | Very frequent (present in 80%-99% of cases) |
| Cognitive impairment | Very frequent (present in 80%-99% of cases) |
| Flat face | Very frequent (present in 80%-99% of cases) |
| Joint hyperflexibility | Very frequent (present in 80%-99% of cases) |
| Macrocephaly | Very frequent (present in 80%-99% of cases) |
| Micromelia | Very frequent (present in 80%-99% of cases) |
| Muscular |
Very frequent (present in 80%-99% of cases) |
| Narrow chest | Very frequent (present in 80%-99% of cases) |
| Platyspondyly | Very frequent (present in 80%-99% of cases) |
| Redundant skin | Very frequent (present in 80%-99% of cases) |
| Respiratory insufficiency | Very frequent (present in 80%-99% of cases) |
| Short thorax | Very frequent (present in 80%-99% of cases) |
| Skeletal dysplasia | Very frequent (present in 80%-99% of cases) |
| Frontal bossing | Frequent (present in 30%-79% of cases) |
| Hearing impairment | Frequent (present in 30%-79% of cases) |
| Increased nuchal translucency | Frequent (present in 30%-79% of cases) |
| Kyphosis | Frequent (present in 30%-79% of cases) |
| Polyhydramnios | Frequent (present in 30%-79% of cases) |
| Proptosis | Frequent (present in 30%-79% of cases) |
| Frequent (present in 30%-79% of cases) |
|
| Ventriculomegaly | Frequent (present in 30%-79% of cases) |
| Abnormality of neuronal migration | Occasional (present in 5%-29% of cases) |
| Abnormality of the kidney | Occasional (present in 5%-29% of cases) |
| Occasional (present in 5%-29% of cases) |
|
| Atrial septal defect | Occasional (present in 5%-29% of cases) |
| Encephalocele | Occasional (present in 5%-29% of cases) |
| Holoprosencephaly | Occasional (present in 5%-29% of cases) |
| Occasional (present in 5%-29% of cases) |
|
| Limitation of joint mobility | Occasional (present in 5%-29% of cases) |
| Patent ductus arteriosus | Occasional (present in 5%-29% of cases) |
| - | |
| Decreased fetal movement | - |
| Flared metaphysis | - |
| Hypoplastic ilia | - |
| Lethal short-limbed |
- |
| Metaphyseal irregularity | - |
| Neonatal death | - |
| Short ribs | - |
| Short sacroiliac notch | - |
| Small abnormally formed scapulae | - |
| Small face | - |
| Small foramen magnum | - |
| Wide-cupped costochondral junctions | - |
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.
The resources below provide information about treatment options for this condition. If you have questions about which treatment is right for you, talk to your 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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