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Familial cutaneous telangiectasia and oropharyngeal predisposition cancer syndrome(FCTCS)

MedGen UID:
482833
Concept ID:
C3281203
Neoplastic Process
Synonym: Cutaneous telangiectasia and cancer syndrome, familial
Modes of inheritance:
Autosomal dominant inheritance
MedGen UID:
141047
Concept ID:
C0443147
Intellectual Product
Source: Orphanet
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.
 
Gene (location): ATR (3q23)
 
Monarch Initiative: MONDO:0013806
OMIM®: 614564
Orphanet: ORPHA313846

Definition

Patients with familial cutaneous telangiectasia and cancer syndrome (FCTCS) develop cutaneous telangiectases in infancy with patchy alopecia over areas of affected skin, thinning of the lateral eyebrows, and mild dental and nail anomalies. Affected individuals are at increased risk of developing oropharyngeal cancer, and other malignancies have been reported as well (Tanaka et al., 2012). [from OMIM]

Clinical features

From HPO
Actinic keratosis
MedGen UID:
9627
Concept ID:
C0022602
Neoplastic Process
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.
Oropharyngeal squamous cell carcinoma
MedGen UID:
76094
Concept ID:
C0280313
Neoplastic Process
A squamous cell carcinoma that originates in the oropharnyx.
Onychomycosis
MedGen UID:
11825
Concept ID:
C0040261
Disease or Syndrome
A fungal infection of the toenails or fingernails that tends to cause the nails to thicken, discolor, disfigure, and split.
Carious teeth
MedGen UID:
8288
Concept ID:
C0011334
Disease or Syndrome
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.
Enamel hypoplasia
MedGen UID:
3730
Concept ID:
C0011351
Disease or Syndrome
Developmental hypoplasia of the dental enamel.
Convex nasal ridge
MedGen UID:
66809
Concept ID:
C0240538
Finding
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.
Conical incisor
MedGen UID:
341076
Concept ID:
C1856136
Finding
An abnormal conical morphology of the incisor tooth.
Sparse lateral eyebrow
MedGen UID:
387768
Concept ID:
C1857206
Finding
Decreased density/number and/or decreased diameter of lateral eyebrow hairs.
Alopecia
MedGen UID:
7982
Concept ID:
C0002170
Finding
A noncongenital process of hair loss, which may progress to partial or complete baldness.
Telangiectasia
MedGen UID:
21088
Concept ID:
C0039446
Finding
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.
Onycholysis
MedGen UID:
39324
Concept ID:
C0085661
Disease or Syndrome
Detachment of the nail from the nail bed.
Nail dystrophy
MedGen UID:
66368
Concept ID:
C0221260
Disease or Syndrome
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.
Livedo
MedGen UID:
568434
Concept ID:
C0332579
Finding
A reddish-blue mottled condition of skin caused by inflammation of the cutaneous blood vessels.
Ridged nail
MedGen UID:
140853
Concept ID:
C0423820
Finding
Longitudinal, linear prominences in the nail plate.
Facial telangiectasia
MedGen UID:
488948
Concept ID:
C0858684
Finding
Telangiectases (small dilated blood vessels) located near the surface of the skin of the face.
Yellow nails
MedGen UID:
369197
Concept ID:
C1768507
Sign or Symptom
Yellowish discoloration of the nails.
Breast carcinoma
MedGen UID:
146260
Concept ID:
C0678222
Neoplastic Process
The presence of a carcinoma of the breast.

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVFamilial cutaneous telangiectasia and oropharyngeal predisposition cancer syndrome
Follow this link to review classifications for Familial cutaneous telangiectasia and oropharyngeal predisposition cancer syndrome in Orphanet.

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