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 fontanelles or cranial sutures | 90% |
| Abnormality of the outer ear | 90% |
| Abnormality of the palate | 90% |
| Camptodactyly of finger | 90% |
| Clinodactyly of the 5th finger | 90% |
| Conductive hearing impairment | 90% |
| Hypermelanotic macule | 90% |
| Mastocytosis | 90% |
| Microcephaly | 90% |
| Muscular hypotonia | 90% |
| Optic atrophy | 90% |
| Proptosis | 90% |
| Pruritus | 90% |
| Seizures | 90% |
| Short stature | 90% |
| Thick lower lip vermilion | 90% |
| Triangular face | 90% |
| Upslanted palpebral fissure | 90% |
| Urticaria | 90% |
| Abnormal nasal morphology | 7.5% |
| Lower limb asymmetry | 7.5% |
| Prominent supraorbital ridges | 7.5% |
| Scoliosis | 7.5% |
| Abnormality of metabolism/homeostasis | - |
| Abnormality of skin pigmentation | - |
| Autosomal recessive inheritance | - |
| Cutaneous mastocytosis | - |
| Feeding difficulties | - |
| High palate | - |
| Intellectual disability | - |
| Microtia | - |
| Underdeveloped nasal alae | - |
| Wide nasal bridge | - |
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.
The following diseases are related to Mastocytosis cutaneous with short stature conductive hearing loss and microtia. If you have a question about any of these diseases, you can contact GARD.
