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) |
| Areflexia | Very frequent (present in 80%-99% of cases) |
| Camptodactyly of finger | Very frequent (present in 80%-99% of cases) |
| Clinodactyly of the 5th finger | Very frequent (present in 80%-99% of cases) |
| Conductive hearing impairment | Very frequent (present in 80%-99% of cases) |
| Delayed cranial suture closure | Very frequent (present in 80%-99% of cases) |
| Erythema | Very frequent (present in 80%-99% of cases) |
| Failure to thrive | Very frequent (present in 80%-99% of cases) |
| Generalized hyperpigmentation | Very frequent (present in 80%-99% of cases) |
| High palate | Very frequent (present in 80%-99% of cases) |
| Irregular hyperpigmentation | Very frequent (present in 80%-99% of cases) |
| Macule | Very frequent (present in 80%-99% of cases) |
| Mastocytosis | Very frequent (present in 80%-99% of cases) |
| Very frequent (present in 80%-99% of cases) |
|
| Very frequent (present in 80%-99% of cases) |
|
| Microtia | Very frequent (present in 80%-99% of cases) |
| Muscular |
Very frequent (present in 80%-99% of cases) |
| Optic atrophy | Very frequent (present in 80%-99% of cases) |
| Papule | Very frequent (present in 80%-99% of cases) |
| Proptosis | Very frequent (present in 80%-99% of cases) |
| Pruritus | Very frequent (present in 80%-99% of cases) |
| Very frequent (present in 80%-99% of cases) |
|
| Subcutaneous nodule | Very frequent (present in 80%-99% of cases) |
| Thick lower lip vermilion | Very frequent (present in 80%-99% of cases) |
| Triangular face | Very frequent (present in 80%-99% of cases) |
| Upslanted palpebral fissure | Very frequent (present in 80%-99% of cases) |
| Urticaria | Very frequent (present in 80%-99% of cases) |
| Ventriculomegaly | Very frequent (present in 80%-99% of cases) |
| Arrhythmia | Occasional (present in 5%-29% of cases) |
| Fatigue | Occasional (present in 5%-29% of cases) |
| Hypotension | Occasional (present in 5%-29% of cases) |
| Immunologic hypersensitivity | Occasional (present in 5%-29% of cases) |
| Occasional (present in 5%-29% of cases) |
|
| Irritability | Occasional (present in 5%-29% of cases) |
| Lichenification | Occasional (present in 5%-29% of cases) |
| Long nose | Occasional (present in 5%-29% of cases) |
| Lower limb asymmetry | Occasional (present in 5%-29% of cases) |
| Pneumonia | Occasional (present in 5%-29% of cases) |
| Prominent supraorbital ridges | Occasional (present in 5%-29% of cases) |
| Respiratory insufficiency | Occasional (present in 5%-29% of cases) |
| Occasional (present in 5%-29% of cases) |
|
| Severe global |
Occasional (present in 5%-29% of cases) |
| Skin vesicle | Occasional (present in 5%-29% of cases) |
| Telangiectasia of the skin | Occasional (present in 5%-29% of cases) |
| Thickened skin | Occasional (present in 5%-29% of cases) |
| Vomiting | Occasional (present in 5%-29% of cases) |
| Wide nasal bridge | Occasional (present in 5%-29% of cases) |
| Wide nose | Occasional (present in 5%-29% of cases) |
| Abnormality of metabolism/homeostasis | - |
| Abnormality of skin pigmentation | - |
| - | |
| Cutaneous mastocytosis | - |
| Dermatographic urticaria | - |
| Feeding difficulties | - |
| Underdeveloped nasal alae | - |
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.
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