Phenotypes associated with the disease familial cutaneous telangiectasia and oropharyngeal predisposition cancer syndrome (OMIM:614564):
- 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: PCS. Frequency: 7/12. (PMID:22341969)
- Congenital onset (HP:0003577): A phenotypic abnormality that is present at birth. Evidence: PCS. Frequency: 1/8. (PMID:22341969)
- Breast carcinoma (HP:0003002): The presence of a carcinoma of the breast. Evidence: PCS. Frequency: 1/23. Onset: Adult onset (HP:0003581). (PMID:22341969)
- Alopecia (HP:0001596): A noncongenital process of hair loss, which may progress to partial or complete baldness. Evidence: PCS. (PMID:22341969)
- Infantile onset (HP:0003593): Onset of signs or symptoms of disease between 28 days to one year of life. Evidence: PCS. Frequency: 6/8. (PMID:22341969)
- Yellow nails (HP:0011367): Yellowish discoloration of the nails. Evidence: PCS. Frequency: 1/12. (PMID:22341969)
- Livedo (HP:0033832): A reddish-blue mottled condition of skin caused by inflammation of the cutaneous blood vessels. Evidence: PCS. Frequency: 1/12. (PMID:22341969)
- Unusual fungal nail infection (HP:0012203): Increased susceptibility to fungal infection of the nail apparatus (onychomycosis), as manifested by recurrent or severe infection of the nail plate, nail bed, or nail matrix caused by fungal organisms. Causative agents include dermatophytes (Trichophyton species) and Candida species. Evidence: PCS. Frequency: 1/12. (PMID:22341969)
- Facial telangiectasia (HP:0007380): Telangiectases (small dilated blood vessels) located near the surface of the skin of the face. Evidence: PCS. Frequency: 12/12. (PMID:22341969)
- Childhood onset (HP:0011463): Onset of disease at the age of between 1 and 5 years. Evidence: PCS. Frequency: 1/8. (PMID:22341969)
- Ridged nail (HP:0001807): Longitudinal, linear prominences in the nail plate. Evidence: PCS. Frequency: 4/12. (PMID:22341969)
- Conical incisor (HP:0011065): An abnormal conical morphology of the incisor tooth. Evidence: PCS. Frequency: 2/12. (PMID:22341969)
- Enamel hypoplasia (HP:0006297): Developmental hypoplasia of the dental enamel. Evidence: PCS. Frequency: 2/12. (PMID:22341969)
- Onycholysis (HP:0001806): Detachment of the nail from the nail bed. Evidence: PCS. Frequency: 1/12. (PMID:22341969)
- Telangiectasia (HP:0001009): Telangiectasias refer to small dilated blood vessels located near the surface of the skin or mucous membranes, measuring between 0.5 and 1 millimeter in diameter. Telangiectasia are located especially on the tongue, lips, palate, fingers, face, conjunctiva, trunk, nail beds, and fingertips. Evidence: PCS. Frequency: 12/12. (PMID:22341969)
- Actinic keratosis (HP:0025127): A scaly, crusty lesion caused by damage from the ultraviolet radiation of the sun, with typical location on sun-exposed areas of the skin. Actinic keratosis lesions are often elevated, rough, and wartlike, and may be red, or occasionally tan, pink, or flesh-toned in color. Evidence: PCS. Frequency: 1/12. (PMID:22341969)
- Oropharyngeal squamous cell carcinoma (HP:0012182): A squamous cell carcinoma that originates in the oropharnyx. Evidence: PCS. Frequency: 10/23. Onset: Adult onset (HP:0003581). (PMID:22341969)
- Convex nasal ridge (HP:0000444): Nasal ridge curving anteriorly to an imaginary line that connects the nasal root and tip. The nose appears often also prominent, and the columella low. Evidence: PCS. Frequency: 4/24. (PMID:22341969)
- Nail dystrophy (HP:0008404): Onychodystrophy (nail dystrophy) refers to nail changes apart from changes of the color (nail dyschromia) and involves partial or complete disruption of the various keratinous layers of the nail plate. Evidence: PCS. Frequency: 1/12. (PMID:22341969)
- Autosomal dominant inheritance (HP:0000006): A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in heterozygotes. In the context of medical genetics, an autosomal dominant disorder is caused when a single copy of the mutant allele is present. Males and females are affected equally, and can both transmit the disorder with a risk of 50% for each child of inheriting the mutant allele. Evidence: PCS. (PMID:22341969)
- Sparse lateral eyebrow (HP:0005338): Decreased density/number and/or decreased diameter of lateral eyebrow hairs. Evidence: PCS. Frequency: 11/12. (PMID:22341969)