Phenotypes associated with the disease Maffucci syndrome (ORPHA:163634):
- Goiter (HP:0000853): An enlargement of the thyroid gland. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:163634)
- Subcutaneous nodule (HP:0001482): Slightly elevated lesions on or in the skin with a diameter of over 5 mm. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:163634)
- Growth delay (HP:0001510): A deficiency or slowing down of growth pre- and postnatally. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:163634)
- Dysphagia (HP:0002015): Difficulty in swallowing. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:163634)
- Scoliosis (HP:0002650): The presence of an abnormal lateral curvature of the spine. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:163634)
- Bone pain (HP:0002653): An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) localized to bone. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:163634)
- Recurrent fractures (HP:0002757): The repeated occurrence of bone fractures (implying an abnormally increased tendency for fracture). Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:163634)
- Osteolysis (HP:0002797): Osteolysis refers to the destruction of bone through bone resorption with removal or loss of calcium. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:163634)
- Pituitary adenoma (HP:0002893): A benign epithelial tumor derived from intrinsic cells of the adenohypophysis (anterior pituitary). Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:163634)
- Parathyroid adenoma (HP:0002897): A benign tumor of the parathyroid gland that can cause hyperparathyroidism. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:163634)
- Breast carcinoma (HP:0003002): The presence of a carcinoma of the breast. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:163634)
- Short stature (HP:0004322): A height below that which is expected according to age and gender norms. Although there is no universally accepted definition of short stature, many refer to "short stature" as height more than 2 standard deviations below the mean for age and gender (or below the 3rd percentile for age and gender dependent norms). Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:163634)
- Venous thrombosis (HP:0004936): Formation of a blood clot (thrombus) inside a vein, causing the obstruction of blood flow. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:163634)
- Multiple enchondromatosis (HP:0005701). Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:163634)
- Chondrosarcoma (HP:0006765): A slowly growing malignant neoplasm derived from cartilage cells. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:163634)
- Cranial nerve paralysis (HP:0006824). Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:163634)
- Hemangiomatosis (HP:0007461). Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:163634)
- Astrocytoma (HP:0009592): Astrocytoma is a neoplasm of the central nervous system derived from astrocytes. Astrocytes are a type of glial cell, and thus astrocytoma is a subtype of glioma. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:163634)
- Cerebral palsy (HP:0100021): Cerebral palsy describes a group of permanent disorders of the development of movement and posture, causing activity limitation, that are attributed to nonprogressive disturbances that occurred in the developing fetal or infant brain. The motor disorders of cerebral palsy are often accompanied by disturbances of sensation, perception, cognition, communication, and behavior, by epilepsy, and by secondary musculoskeletal problems. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:163634)
- Sarcoma (HP:0100242): A connective tissue neoplasm formed by proliferation of mesodermal cells. Bone and soft tissue sarcomas are the main types of sarcoma. Sarcoma is usually highly malignant. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:163634)
- Ovarian neoplasm (HP:0100615): A tumor (abnormal growth of tissue) of the ovary. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:163634)
- Neoplasm of the adrenal cortex (HP:0100641): The presence of a neoplasm of the adrenal cortex. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:163634)
- Neoplasm of the parathyroid gland (HP:0100733): A tumor (abnormal growth of tissue) of the parathyroid gland. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:163634)
- Exostoses (HP:0100777): An exostosis is a benign growth the projects outward from the bone surface. It is capped by cartilage, and arises from a bone that develops from cartilage. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:163634)