- Skin rash (HP:0000988): A red eruption of the skin. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:2909)
- Poikiloderma (HP:0001029): 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). (ORPHA:2909)
- Malar rash (HP:0025300): An erythematous (red), flat facial rash that affects the skin in the malar area (over the cheekbones) and extends over the bridge of the nose. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:2909)
- Abnormality of the dentition (HP:0000164): Any abnormality of the teeth. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:2909)
- Sparse eyelashes (HP:0000653): Decreased density/number of eyelashes. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:2909)
- Infertility (HP:0000789). Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:2909)
- Abnormality of the skeletal system (HP:0000924): An abnormality of the skeletal system. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:2909)
- Small for gestational age (HP:0001518): 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). (ORPHA:2909)
- 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:2909)
- Reduced bone mineral density (HP:0004349): A reduction of bone mineral density, that is, of the amount of matter per cubic centimeter of bones. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:2909)
- Plantar hyperkeratosis (HP:0007556): Hyperkeratosis affecting the sole of the foot. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:2909)
- Reticular hyperpigmentation (HP:0007588): Increased pigmentation of the skin with a netlike (reticular) pattern. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:2909)
- Abnormal blistering of the skin (HP:0008066): 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: Frequent (HP:0040282). (ORPHA:2909)
- Sparse hair (HP:0008070): Reduced density of hairs. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:2909)
- Palmar hyperkeratosis (HP:0010765): Abnormal thickening of the skin localized to the palm of the hand. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:2909)
- Sparse eyebrow (HP:0045075): Decreased density/number of eyebrow hairs. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:2909)
- Facial edema (HP:0000282). Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:2909)
- Carious teeth (HP:0000670): 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). (ORPHA:2909)
- Abnormal dental enamel morphology (HP:0000682): An abnormality of the dental enamel. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:2909)
- Delayed eruption of teeth (HP:0000684): 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). (ORPHA:2909)
- Hypoplasia of teeth (HP:0000685): Developmental hypoplasia of teeth. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:2909)
- Microdontia (HP:0000691): 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). (ORPHA:2909)
- Osteopenia (HP:0000938): 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). (ORPHA:2909)
- Hypopigmentation of the skin (HP:0001010): A reduction of skin color related to a decrease in melanin production and deposition. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:2909)
- Juvenile cataract (HP:0001118): A type of cataract that is not apparent at birth but that arises in childhood or adolescence. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:2909)
- Selective tooth agenesis (HP:0001592): Agenesis specifically affecting one of the classes incisor, premolar, or molar. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:2909)
- Abnormal nail morphology (HP:0001597): Abnormal structure or appearance of the nail. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:2909)
- Small nail (HP:0001792): A nail that is diminished in length and width, i.e., underdeveloped nail. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:2909)
- Abnormality of blood and blood-forming tissues (HP:0001871): An abnormality of the hematopoietic system. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:2909)
- Vomiting (HP:0002013): 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). (ORPHA:2909)
- Diarrhea (HP:0002014): Abnormally increased frequency (usually defined as three or more) loose or watery bowel movements a day. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:2909)
- Nail dysplasia (HP:0002164): The presence of developmental dysplasia of the nail. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:2909)
- Increased susceptibility to fractures (HP:0002659): An abnormally increased tendency to fractures of bones caused by an abnormal reduction in bone strength that is generally associated with an increased risk of fracture. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:2909)
- Hypoplasia of the ulna (HP:0003022): Underdevelopment of the ulna. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:2909)
- Broad ulna (HP:0003993): Increased width of the ulna. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:2909)
- Aplasia/Hypoplasia of the patella (HP:0006498): Absence or underdevelopment of the patella. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:2909)
- Aplasia/Hypoplasia of the radius (HP:0006501): A small/hypoplastic or absent/aplastic radius. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:2909)
- Aplasia/Hypoplasia of the skin (HP:0008065). Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:2909)
- Neoplasm of the skin (HP:0008069): A tumor (abnormal growth of tissue) of the skin. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:2909)
- Short thumb (HP:0009778): Hypoplasia (congenital reduction in size) of the thumb. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:2909)
- Supernumerary tooth (HP:0011069): The presence of one or more teeth additional to the normal number. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:2909)
- Metaphyseal striations (HP:0031367): 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). (ORPHA:2909)
- Telangiectasia of the skin (HP:0100585): Presence of small, permanently dilated blood vessels near the surface of the skin, visible as small focal red lesions. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:2909)
- Abnormal trabecular bone morphology (HP:0100671): Abnormal structure or form of trabecular bone. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:2909)
- Decreased total neutrophil count (HP:0001875): 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: Very rare (HP:0040284). (ORPHA:2909)
- Anemia (HP:0001903): A reduction in erythrocytes volume or hemoglobin concentration. Evidence: TAS. Frequency: Very rare (HP:0040284). (ORPHA:2909)
- Leukemia (HP:0001909): A cancer of the blood and bone marrow characterized by an abnormal proliferation of leukocytes. Evidence: TAS. Frequency: Very rare (HP:0040284). (ORPHA:2909)
- Aplastic anemia (HP:0001915): Aplastic anemia is defined as pancytopenia with a hypocellular marrow. Evidence: TAS. Frequency: Very rare (HP:0040284). (ORPHA:2909)
- Basal cell carcinoma (HP:0002671): The presence of a basal cell carcinoma of the skin. Evidence: TAS. Frequency: Very rare (HP:0040284). (ORPHA:2909)
- Squamous cell carcinoma (HP:0002860): The presence of squamous cell carcinoma of the skin. Evidence: TAS. Frequency: Very rare (HP:0040284). (ORPHA:2909)
- Melanoma (HP:0002861): 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). (ORPHA:2909)
- 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: Very rare (HP:0040284). (ORPHA:2909)
- Calcinosis (HP:0003761): Formation of calcium deposits in any soft tissue. Evidence: TAS. Frequency: Very rare (HP:0040284). (ORPHA:2909)
- Alopecia totalis (HP:0007418): Loss of all scalp hair. Evidence: TAS. Frequency: Very rare (HP:0040284). (ORPHA:2909)
- Nasogastric tube feeding in infancy (HP:0011470): Feeding problem necessitating nasogastric tube feeding. Evidence: TAS. Frequency: Very rare (HP:0040284). (ORPHA:2909)
- Porokeratosis (HP:0200044): 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). (ORPHA:2909)
These phenotypes are associated with the disease Rothmund-Thomson syndrome (ORPHA:2909).