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 |
| Frontal bossing | 2/2 |
| Generalized tonic-clonic seizures | 1/1 |
| Gingival overgrowth | 1/1 |
| Hypertelorism | 1/1 |
| Intellectual disability | 1/1 |
| Lower limb hyperreflexia | 1/1 |
| Lower limb hypertonia | 1/1 |
| Median cleft palate | 1/1 |
| Pes cavus | 1/1 |
| Recurrent otitis media | 1/1 |
| Strabismus | 1/1 |
| Umbilical hernia | 1/1 |
| Macrocephaly | 2/11 |
| Mild short stature | 2/11 |
| Eczema | 1/11 |
| Giant platelets | 1/11 |
| Kyphosis | 1/11 |
| Neutropenia | 1/11 |
| Short 3rd metacarpal | 1/11 |
| Short 4th metacarpal | 1/11 |
| Short 5th metacarpal | 1/11 |
| Thrombocytopenia | 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.
