Phenotypes associated with the disease Campomelia, Cumming type (ORPHA:1318):
- Multicystic kidney dysplasia (HP:0000003): Multicystic dysplasia of the kidney is characterized by multiple cysts of varying size in the kidney and the absence of a normal pelvicaliceal system. The condition is associated with ureteral or ureteropelvic atresia, and the affected kidney is nonfunctional. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:1318)
- Cleft palate (HP:0000175): Cleft palate is a developmental defect of the palate resulting from a failure of fusion of the palatine processes and manifesting as a separation of the roof of the mouth (soft and hard palate). Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:1318)
- Dolichocephaly (HP:0000268): An abnormality of skull shape characterized by a increased anterior-posterior diameter, i.e., an increased antero-posterior dimension of the skull. Cephalic index less than 76%. Alternatively, an apparently increased antero-posterior length of the head compared to width. Often due to premature closure of the sagittal suture. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:1318)
- Cystic hygroma (HP:0000476): A cystic lymphatic lesion of the neck. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:1318)
- Abnormal rib morphology (HP:0000772): An anomaly of the rib. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:1318)
- Brachydactyly (HP:0001156): Digits that appear disproportionately short compared to the hand/foot. The word brachydactyly is used here to describe a series distinct patterns of shortened digits (brachydactyly types A-E). This is the sense used here. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:1318)
- Death in infancy (HP:0001522): Death within the first 24 months of life. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:1318)
- Oligohydramnios (HP:0001562): Diminished amniotic fluid volume in pregnancy. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:1318)
- Abnormality of the pancreas (HP:0001732): An abnormality of the pancreas. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:1318)
- Pancreatic cysts (HP:0001737): A cyst of the pancreas that possess a lining of mucous epithelium. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:1318)
- Skeletal dysplasia (HP:0002652): A general term describing features characterized by abnormal development of bones and connective tissues. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:1318)
- Micromelia (HP:0002983): The presence of abnormally small extremities. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:1318)
- Multiple renal cysts (HP:0005562): The presence of many cysts in the kidney. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:1318)
- Bowing of the long bones (HP:0006487): A bending or abnormal curvature of a long bone. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:1318)
- Prematurely aged appearance (HP:0007495). Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:1318)
- Clubbing of toes (HP:0100760): Terminal broadening of the toes (distal phalanges of the toes). Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:1318)
- Abnormal thorax morphology (HP:0000765): Any abnormality of the thorax (the region of the body formed by the sternum, the thoracic vertebrae and the ribs). Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:1318)
- Hydrops fetalis (HP:0001789): The abnormal accumulation of fluid in two or more fetal compartments, including ascites, pleural effusion, pericardial effusion, and skin edema. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:1318)
- Hepatomegaly (HP:0002240): Abnormally increased size of the liver. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:1318)
- Myelodysplasia (HP:0002863): Clonal hematopoietic stem cell disorders characterized by dysplasia (ineffective production) in one or more hematopoietic cell lineages, leading to anemia and cytopenia. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:1318)
- Skin dimple (HP:0010781): Skin dimples are cutaneous indentations that are the result of tethering of the skin to underlying structures (bone) causing an indentation. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:1318)
- Abnormally ossified vertebrae (HP:0100569): An abnormality of the formation and mineralization of one or more vertebrae. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:1318)
- Coarse facial features (HP:0000280): Absence of fine and sharp appearance of brows, nose, lips, mouth, and chin, usually because of rounded and heavy features or thickened skin with or without thickening of subcutaneous and bony tissues. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:1318)
- Lymphedema (HP:0001004): Localized fluid retention and tissue swelling caused by a compromised lymphatic system. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:1318)
- Abnormal intestine morphology (HP:0002242): An abnormality of the intestine. The closely related term enteropathy is used to refer to any disease of the intestine. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:1318)
- Aplasia/Hypoplasia affecting the eye (HP:0008056). Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:1318)
- Abnormal cardiovascular system morphology (HP:0030680): Any structural anomaly of the heart and blood vessels. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:1318)