Phenotypes associated with the disease Rothmund-Thomson syndrome type 2 (ORPHA:221016, an Orphanet rare-disease identifier):
- Hyperpigmentation of the skin (HP:0000953, a Human Phenotype Ontology term): A darkening of the skin related to an increase in melanin production and deposition. Evidence: TAS. Frequency: Very frequent (HP:0040281, a Human Phenotype Ontology term). (ORPHA:221016)
- Hypopigmentation of the skin (HP:0001010, a Human Phenotype Ontology term): A reduction of skin color related to a decrease in melanin production and deposition. Evidence: TAS. Frequency: Very frequent (HP:0040281, a Human Phenotype Ontology term). (ORPHA:221016)
- Poikiloderma (HP:0001029, a Human Phenotype Ontology term): Poikiloderma refers to a patch of skin with (1) reticulated hypopigmentation and hyperpigmentation, (2) wrinkling secondary to epidermal atrophy, and (3) telangiectasias. Evidence: TAS. Frequency: Very frequent (HP:0040281, a Human Phenotype Ontology term). (ORPHA:221016)
- Erythema (HP:0010783, a Human Phenotype Ontology term): Redness of the skin, caused by hyperemia of the capillaries in the lower layers of the skin. Evidence: TAS. Frequency: Very frequent (HP:0040281, a Human Phenotype Ontology term). (ORPHA:221016)
- Abnormality of the dentition (HP:0000164, a Human Phenotype Ontology term): Any abnormality of the teeth. Evidence: TAS. Frequency: Frequent (HP:0040282, a Human Phenotype Ontology term). (ORPHA:221016)
- Facial erythema (HP:0001041, a Human Phenotype Ontology term): Redness of the skin of the face, caused by hyperemia of the capillaries in the lower layers of the skin. Evidence: TAS. Frequency: Frequent (HP:0040282, a Human Phenotype Ontology term). (ORPHA:221016)
- Growth delay (HP:0001510, a Human Phenotype Ontology term): A deficiency or slowing down of growth pre- and postnatally. Evidence: TAS. Frequency: Frequent (HP:0040282, a Human Phenotype Ontology term). (ORPHA:221016)
- Small for gestational age (HP:0001518, a Human Phenotype Ontology term): Smaller than normal size according to sex and gestational age related norms, defined as a weight below the 10th percentile for the gestational age. Evidence: TAS. Frequency: Frequent (HP:0040282, a Human Phenotype Ontology term). (ORPHA:221016)
- Nail dysplasia (HP:0002164, a Human Phenotype Ontology term): The presence of developmental dysplasia of the nail. Evidence: TAS. Frequency: Frequent (HP:0040282, a Human Phenotype Ontology term). (ORPHA:221016)
- Short stature (HP:0004322, a Human Phenotype Ontology term): 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, a Human Phenotype Ontology term). (ORPHA:221016)
- Dermal atrophy (HP:0004334, a Human Phenotype Ontology term): Partial or complete wasting (atrophy) of the skin. Evidence: TAS. Frequency: Frequent (HP:0040282, a Human Phenotype Ontology term). (ORPHA:221016)
- Multiple skeletal anomalies (HP:0005775, a Human Phenotype Ontology term). Evidence: TAS. Frequency: Frequent (HP:0040282, a Human Phenotype Ontology term). (ORPHA:221016)
- Sparse hair (HP:0008070, a Human Phenotype Ontology term): Reduced density of hairs. Evidence: TAS. Frequency: Frequent (HP:0040282, a Human Phenotype Ontology term). (ORPHA:221016)
- Aplasia/Hypoplasia of the eyebrow (HP:0100840, a Human Phenotype Ontology term): Absence or underdevelopment of the eyebrow. Evidence: TAS. Frequency: Frequent (HP:0040282, a Human Phenotype Ontology term). (ORPHA:221016)
- Sparse or absent eyelashes (HP:0200102, a Human Phenotype Ontology term). Evidence: TAS. Frequency: Frequent (HP:0040282, a Human Phenotype Ontology term). (ORPHA:221016)
- Cryptorchidism (HP:0000028, a Human Phenotype Ontology term): Testis in inguinal canal. That is, absence of one or both testes from the scrotum owing to failure of the testis or testes to descend through the inguinal canal to the scrotum. Evidence: TAS. Frequency: Occasional (HP:0040283, a Human Phenotype Ontology term). (ORPHA:221016)
- Cleft palate (HP:0000175, a Human Phenotype Ontology term): 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: Occasional (HP:0040283, a Human Phenotype Ontology term). (ORPHA:221016)
- High palate (HP:0000218, a Human Phenotype Ontology term): Height of the palate more than 2 SD above the mean (objective) or palatal height at the level of the first permanent molar more than twice the height of the teeth (subjective). Evidence: TAS. Frequency: Occasional (HP:0040283, a Human Phenotype Ontology term). (ORPHA:221016)
- Facial edema (HP:0000282, a Human Phenotype Ontology term). Evidence: TAS. Frequency: Occasional (HP:0040283, a Human Phenotype Ontology term). (ORPHA:221016)
- Slender nose (HP:0000417, a Human Phenotype Ontology term). Evidence: TAS. Frequency: Occasional (HP:0040283, a Human Phenotype Ontology term). (ORPHA:221016)
- Developmental cataract (HP:0000519, a Human Phenotype Ontology term): A cataract that occurs congenitally as the result of a developmental defect, in contrast to the majority of cataracts that occur in adulthood as the result of degenerative changes of the lens. Evidence: TAS. Frequency: Occasional (HP:0040283, a Human Phenotype Ontology term). (ORPHA:221016)
- Carious teeth (HP:0000670, a Human Phenotype Ontology term): Caries is a multifactorial bacterial infection affecting the structure of the tooth. This term has been used to describe the presence of more than expected dental caries. Evidence: TAS. Frequency: Occasional (HP:0040283, a Human Phenotype Ontology term). (ORPHA:221016)
- Abnormal dental enamel morphology (HP:0000682, a Human Phenotype Ontology term): An abnormality of the dental enamel. Evidence: TAS. Frequency: Occasional (HP:0040283, a Human Phenotype Ontology term). (ORPHA:221016)
- Delayed eruption of teeth (HP:0000684, a Human Phenotype Ontology term): Delayed tooth eruption, which can be defined as tooth eruption more than 2 SD beyond the mean eruption age. Evidence: TAS. Frequency: Occasional (HP:0040283, a Human Phenotype Ontology term). (ORPHA:221016)
- Microdontia (HP:0000691, a Human Phenotype Ontology term): Decreased size of the teeth, which can be defined as a mesiodistal tooth diameter (width) more than 2 SD below mean. Alternatively, an apparently decreased maximum width of tooth. Evidence: TAS. Frequency: Occasional (HP:0040283, a Human Phenotype Ontology term). (ORPHA:221016)
- Osteopenia (HP:0000938, a Human Phenotype Ontology term): Osteopenia is a term to define bone density that is not normal but also not as low as osteoporosis. By definition from the World Health Organization osteopenia is defined by bone densitometry as a T score -1 to -2.5. Evidence: TAS. Frequency: Occasional (HP:0040283, a Human Phenotype Ontology term). (ORPHA:221016)
- Joint dislocation (HP:0001373, a Human Phenotype Ontology term): Displacement or malalignment of joints. Evidence: TAS. Frequency: Occasional (HP:0040283, a Human Phenotype Ontology term). (ORPHA:221016)
- Decreased total neutrophil count (HP:0001875, a Human Phenotype Ontology term): Abnormal decrease of absolute number of neutrophils in the blood, per microlitre, compared to a reference range for a given sex and age-group. Evidence: TAS. Frequency: Occasional (HP:0040283, a Human Phenotype Ontology term). (ORPHA:221016)
- Anemia (HP:0001903, a Human Phenotype Ontology term): A reduction in erythrocytes volume or hemoglobin concentration. Evidence: TAS. Frequency: Occasional (HP:0040283, a Human Phenotype Ontology term). (ORPHA:221016)
- Vomiting (HP:0002013, a Human Phenotype Ontology term): Forceful ejection of the contents of the stomach through the mouth by means of a series of involuntary spasmic contractions. Evidence: TAS. Frequency: Occasional (HP:0040283, a Human Phenotype Ontology term). (ORPHA:221016)
- Diarrhea (HP:0002014, a Human Phenotype Ontology term): Abnormally increased frequency (usually defined as three or more) loose or watery bowel movements a day. Evidence: TAS. Frequency: Occasional (HP:0040283, a Human Phenotype Ontology term). (ORPHA:221016)
- Lymphoma (HP:0002665, a Human Phenotype Ontology term): A cancer originating in lymphocytes and presenting as a solid tumor of lymhpoid cells. Evidence: TAS. Frequency: Occasional (HP:0040283, a Human Phenotype Ontology term). (ORPHA:221016)
- Osteosarcoma (HP:0002669, a Human Phenotype Ontology term): A malignant bone tumor that usually develops during adolescence and usually affects the long bones including the tibia, femur, and humerus. The typical symptoms of osteosarcoma comprise bone pain, fracture, limitation of motion, and tenderness or swelling at the site of the tumor. Evidence: TAS. Frequency: Occasional (HP:0040283, a Human Phenotype Ontology term). (ORPHA:221016)
- Basal cell carcinoma (HP:0002671, a Human Phenotype Ontology term): The presence of a basal cell carcinoma of the skin. Evidence: TAS. Frequency: Occasional (HP:0040283, a Human Phenotype Ontology term). (ORPHA:221016)
- Delayed skeletal maturation (HP:0002750, a Human Phenotype Ontology term): A decreased rate of skeletal maturation. Delayed skeletal maturation can be diagnosed on the basis of an estimation of the bone age from radiographs of specific bones in the human body. Evidence: TAS. Frequency: Occasional (HP:0040283, a Human Phenotype Ontology term). (ORPHA:221016)
- Pathologic fracture (HP:0002756, a Human Phenotype Ontology term): A pathologic fracture occurs when a bone breaks in an area that is weakened secondarily to another disease process such as tumor, infection, and certain inherited bone disorders. A pathologic fracture can occur without a degree of trauma required to cause fracture in healthy bone. Evidence: TAS. Frequency: Occasional (HP:0040283, a Human Phenotype Ontology term). (ORPHA:221016)
- Squamous cell carcinoma (HP:0002860, a Human Phenotype Ontology term): The presence of squamous cell carcinoma of the skin. Evidence: TAS. Frequency: Occasional (HP:0040283, a Human Phenotype Ontology term). (ORPHA:221016)
- Myelodysplasia (HP:0002863, a Human Phenotype Ontology term): 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: Occasional (HP:0040283, a Human Phenotype Ontology term). (ORPHA:221016)
- Genu varum (HP:0002970, a Human Phenotype Ontology term): A positional abnormality marked by outward bowing of the legs in which the knees stay wide apart when a person stands with the feet and ankles together. Evidence: TAS. Frequency: Occasional (HP:0040283, a Human Phenotype Ontology term). (ORPHA:221016)
- Patellar hypoplasia (HP:0003065, a Human Phenotype Ontology term): Underdevelopment of the patella. Evidence: TAS. Frequency: Occasional (HP:0040283, a Human Phenotype Ontology term). (ORPHA:221016)
- Long nose (HP:0003189, a Human Phenotype Ontology term): Distance from nasion to subnasale more than two standard deviations above the mean, or alternatively, an apparently increased length from the nasal root to the nasal base. Evidence: TAS. Frequency: Occasional (HP:0040283, a Human Phenotype Ontology term). (ORPHA:221016)
- Abnormality of the radial head (HP:0003995, a Human Phenotype Ontology term). Evidence: TAS. Frequency: Occasional (HP:0040283, a Human Phenotype Ontology term). (ORPHA:221016)
- Abnormal ulnar metaphysis morphology (HP:0004039, a Human Phenotype Ontology term): Any structural abnormality of the portion of the ulna between the epiphysis and the diaphysis. Evidence: TAS. Frequency: Occasional (HP:0040283, a Human Phenotype Ontology term). (ORPHA:221016)
- Metaphyseal sclerosis (HP:0004979, a Human Phenotype Ontology term): Abnormally increased density of metaphyseal bone. Evidence: TAS. Frequency: Occasional (HP:0040283, a Human Phenotype Ontology term). (ORPHA:221016)
- Patellar aplasia (HP:0006443, a Human Phenotype Ontology term): Absence of the patella. Evidence: TAS. Frequency: Occasional (HP:0040283, a Human Phenotype Ontology term). (ORPHA:221016)
- Aplasia/hypoplasia involving bones of the upper limbs (HP:0006496, a Human Phenotype Ontology term): Absence (due to failure to form) or underdevelopment of the bones of the upper limbs. Evidence: TAS. Frequency: Occasional (HP:0040283, a Human Phenotype Ontology term). (ORPHA:221016)
- Alopecia totalis (HP:0007418, a Human Phenotype Ontology term): Loss of all scalp hair. Evidence: TAS. Frequency: Occasional (HP:0040283, a Human Phenotype Ontology term). (ORPHA:221016)
- Plantar hyperkeratosis (HP:0007556, a Human Phenotype Ontology term): Hyperkeratosis affecting the sole of the foot. Evidence: TAS. Frequency: Occasional (HP:0040283, a Human Phenotype Ontology term). (ORPHA:221016)
- Abnormal blistering of the skin (HP:0008066, a Human Phenotype Ontology term): The presence of one or more bullae on the skin, defined as fluid-filled blisters more than 5 mm in diameter with thin walls. Evidence: TAS. Frequency: Occasional (HP:0040283, a Human Phenotype Ontology term). (ORPHA:221016)
- Neoplasm of the skin (HP:0008069, a Human Phenotype Ontology term): A tumor (abnormal growth of tissue) of the skin. Evidence: TAS. Frequency: Occasional (HP:0040283, a Human Phenotype Ontology term). (ORPHA:221016)
- Short phalanx of finger (HP:0009803, a Human Phenotype Ontology term): Short (hypoplastic) phalanx of finger, affecting one or more phalanges. Evidence: TAS. Frequency: Occasional (HP:0040283, a Human Phenotype Ontology term). (ORPHA:221016)
- Tooth agenesis (HP:0009804, a Human Phenotype Ontology term): The absence of one or more teeth from the normal series by a failure to develop. Evidence: TAS. Frequency: Occasional (HP:0040283, a Human Phenotype Ontology term). (ORPHA:221016)
- Short metacarpal (HP:0010049, a Human Phenotype Ontology term): Diminished length of one or more metacarpal bones in relation to the others of the same hand or to the contralateral metacarpal. Evidence: TAS. Frequency: Occasional (HP:0040283, a Human Phenotype Ontology term). (ORPHA:221016)
- Abnormality of immune system physiology (HP:0010978, a Human Phenotype Ontology term): A functional abnormality of the immune system. Evidence: TAS. Frequency: Occasional (HP:0040283, a Human Phenotype Ontology term). (ORPHA:221016)
- Functional abnormality of the gastrointestinal tract (HP:0012719, a Human Phenotype Ontology term): Abnormal functionality of the gastrointestinal tract. Evidence: TAS. Frequency: Occasional (HP:0040283, a Human Phenotype Ontology term). (ORPHA:221016)
- Metaphyseal striations (HP:0031367, a Human Phenotype Ontology term): Longitudinal densities on radiographs located in a metaphysis (the narrow region of a long bone between the epiphysis and the diaphysis). Evidence: TAS. Frequency: Occasional (HP:0040283, a Human Phenotype Ontology term). (ORPHA:221016)
- Nasogastric tube feeding (HP:0040288, a Human Phenotype Ontology term): The condition of inability to eat normally treated by placement of a thin tube through the nose into the stomach that is then used to carry food. Evidence: TAS. Frequency: Occasional (HP:0040283, a Human Phenotype Ontology term). (ORPHA:221016)
- Synostosis involving bones of the upper limbs (HP:0100238, a Human Phenotype Ontology term): An abnormal union between bones or parts of bones of the upper limbs. Evidence: TAS. Frequency: Occasional (HP:0040283, a Human Phenotype Ontology term). (ORPHA:221016)
- Abnormal trabecular bone morphology (HP:0100671, a Human Phenotype Ontology term): Abnormal structure or form of trabecular bone. Evidence: TAS. Frequency: Occasional (HP:0040283, a Human Phenotype Ontology term). (ORPHA:221016)
- Juvenile cataract (HP:0001118, a Human Phenotype Ontology term): A type of cataract that is not apparent at birth but that arises in childhood or adolescence. Evidence: TAS. Frequency: Very rare (HP:0040284, a Human Phenotype Ontology term). (ORPHA:221016)
- Leukemia (HP:0001909, a Human Phenotype Ontology term): A cancer of the blood and bone marrow characterized by an abnormal proliferation of leukocytes. Evidence: TAS. Frequency: Very rare (HP:0040284, a Human Phenotype Ontology term). (ORPHA:221016)
- Aplastic anemia (HP:0001915, a Human Phenotype Ontology term): Aplastic anemia is defined as pancytopenia with a hypocellular marrow. Evidence: TAS. Frequency: Very rare (HP:0040284, a Human Phenotype Ontology term). (ORPHA:221016)
- Melanoma (HP:0002861, a Human Phenotype Ontology term): The presence of a melanoma, a malignant cancer originating from pigment producing melanocytes. Melanoma can originate from the skin or the pigmented layers of the eye (the uvea). Evidence: TAS. Frequency: Very rare (HP:0040284, a Human Phenotype Ontology term). (ORPHA:221016)
- Calcinosis (HP:0003761, a Human Phenotype Ontology term): Formation of calcium deposits in any soft tissue. Evidence: TAS. Frequency: Very rare (HP:0040284, a Human Phenotype Ontology term). (ORPHA:221016)
- Finger symphalangism (HP:0009700, a Human Phenotype Ontology term): An abnormal union between bones or parts of bones of the fingers. The synonymous term "symphalangism of the hand" may be translated as fusions of bones of varying digree, that involve at least one phalangeal bone of the hand. If bony fusions are referred to as "Symphalangism" the fusion occurs in a proximo-distal axis. Fusions of bones of the fingers in a radio-ulnar axis are referred to as "bony" Syndactyly. Evidence: TAS. Frequency: Very rare (HP:0040284, a Human Phenotype Ontology term). (ORPHA:221016)
- Porokeratosis (HP:0200044, a Human Phenotype Ontology term): A clonal disorder of keratinization with one or multiple atrophic patches surrounded by a clinically and histologically distinctive hyperkeratotic ridgelike border called the cornoid lamella. Evidence: TAS. Frequency: Very rare (HP:0040284, a Human Phenotype Ontology term). (ORPHA:221016)
Not associated with this disease:
- Intellectual disability (HP:0001249, a Human Phenotype Ontology term): The term intellectual disability or intellectual developmental disorder is used to describe significantly sub-average intellectual and adaptive functioning based on clinical assessment and as measured by individually administered, appropriately normed, standardized and validated tests of intellectual functioning and adaptive behavior, with onset during the developmental period from infancy through adolescence. Evidence: TAS. (ORPHA:221016)