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 chromosome segregation||90%|
|Abnormality of the teeth||1/1|
|Depressed nasal bridge||1/1|
|Failure to thrive||1/1|
|Foot dorsiflexor weakness||1/1|
|Generalized tonic-clonic seizures||1/1|
|Lower limb hyperreflexia||1/1|
|Lower limb hypertonia||1/1|
|Median cleft palate||1/1|
|Recurrent otitis media||1/1|
|Mild short stature||2/11|
|Short 3rd metacarpal||1/11|
|Short 4th metacarpal||1/11|
|Short 5th metacarpal||1/11|
|Upper limb undergrowth||1/11|
|Ventricular septal defect||1/11|
|Autosomal dominant inheritance||-|
|Hyposegmentation of neutrophil nuclei||-|
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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