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 metaphyses | 90% |
| Aplasia/Hypoplasia of the lungs | 90% |
| Brachydactyly syndrome | 90% |
| Cloverleaf skull | 90% |
| Cognitive impairment | 90% |
| Cutis laxa | 90% |
| Depressed nasal bridge | 90% |
| Limb undergrowth | 90% |
| Macrocephaly | 90% |
| Malar flattening | 90% |
| Muscular hypotonia | 90% |
| Narrow chest | 90% |
| Platyspondyly | 90% |
| Respiratory insufficiency | 90% |
| Short stature | 90% |
| Short thorax | 90% |
| Skeletal dysplasia | 90% |
| Frontal bossing | 50% |
| Hearing impairment | 50% |
| Increased nuchal translucency | 50% |
| Kyphosis | 50% |
| Polyhydramnios | 50% |
| Proptosis | 50% |
| Seizures | 50% |
| Ventriculomegaly | 50% |
| Abnormality of neuronal migration | 7.5% |
| Abnormality of the kidney | 7.5% |
| Acanthosis nigricans | 7.5% |
| Atria septal defect | 7.5% |
| Encephalocele | 7.5% |
| Holoprosencephaly | 7.5% |
| Hydrocephalus | 7.5% |
| Limitation of joint mobility | 7.5% |
| Patent ductus arteriosus | 7.5% |
| Autosomal dominant inheritance | - |
| Decreased fetal movement | - |
| Flared metaphysis | - |
| Hypoplastic ilia | - |
| Lethal short-limbed short stature | - |
| 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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