Phenotypes associated with the disease arrhythmogenic cardiomyopathy with wooly hair and keratoderma (OMIM:605676):
- Congenital onset (HP:0003577): A phenotypic abnormality that is present at birth. Evidence: PCS. Frequency: 2/2. (PMID:11841538)
- Woolly hair (HP:0002224): The term wooly hair refers to an abnormal variant of hair that is fine, with tightly coiled curls, and often hypopigmented. Optical microscopy may reveal the presence of tight spirals and a clear diameter reduction as compared with normal hair. Electron microscopy may show flat, oval hair shafts with reduced transversal diameter. Evidence: PCS. Frequency: 13/14. (PMID:9738775;PMID:11841538)
- Alopecia (HP:0001596): A noncongenital process of hair loss, which may progress to partial or complete baldness. Evidence: PCS. Frequency: 1/2. (PMID:11841538)
- Fragile skin (HP:0001030): Skin that splits easily with minimal injury. Evidence: PCS. Frequency: 2/2. (PMID:11841538)
- Sparse eyebrow (HP:0045075): Decreased density/number of eyebrow hairs. Evidence: PCS. Frequency: 1/2. (PMID:11841538)
- Acantholysis (HP:0100792): The loss of intercellular connections, such as desmosomes, resulting in loss of cohesion between keratinocytes. Evidence: PCS. Frequency: 2/2. (PMID:11841538)
- Failure to thrive (HP:0001508): Failure to thrive (FTT) refers to a child whose physical growth is substantially below the norm. Evidence: PCS. Frequency: 1/2. (PMID:11841538)
- Abnormality of the cardiovascular system (HP:0001626): Any abnormality of the cardiovascular system. Evidence: PCS. Frequency: 0/2. (PMID:11841538)
- Palmoplantar hyperkeratosis (HP:0000972): Abnormal thickening of the skin localized to the palm of the hand and the sole of the foot. Evidence: PCS. Frequency: 1/2. (PMID:11841538)
- Sparse eyelashes (HP:0000653): Decreased density/number of eyelashes. Evidence: PCS. Frequency: 1/2. (PMID:11841538)
- Ventricular tachycardia (HP:0004756): A tachycardia originating in the ventricles characterized by rapid heart rate (over 100 beats per minute) and broad QRS complexes (over 120 ms). Evidence: PCS. Frequency: 1/12. (PMID:9738775)
- Dilated cardiomyopathy (HP:0001644): Dilated cardiomyopathy (DCM) is defined by the presence of left ventricular dilatation and left ventricular systolic dysfunction in the absence of abnormal loading conditions (hypertension, valve disease) or coronary artery disease sufficient to cause global systolic impairment. Right ventricular dilation and dysfunction may be present but are not necessary for the diagnosis. Evidence: PCS. Frequency: 9/12. (PMID:9738775)
- Tooth agenesis (HP:0009804): The absence of one or more teeth from the normal series by a failure to develop. Evidence: IEA. (OMIM:605676)
- Cardiomyocyte hypertrophy (HP:0031319): An increase in cell size, enhanced protein synthesis, and heightened organization of the sarcomere within cardiac myocytes. Evidence: IEA. (OMIM:605676)
- Palmoplantar erythema (HP:0025493): Redness of the skin of the palm of the hand and the sole of the foot caused by hyperemia of the capillaries in the lower layers of the skin. Evidence: PCS. Frequency: 1/2. (PMID:11841538)
- Death in adolescence (HP:0011421): Death during adolescence, the period between childhood and adulthood (roughly between the ages of 10 and 16 years). Evidence: PCS. Frequency: 2/12. (PMID:9738775)
- Edema (HP:0000969): An abnormal accumulation of fluid beneath the skin, or in one or more cavities of the body. Evidence: IEA. (OMIM:605676)
- 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: PCS. Frequency: 2/2. Onset: Congenital onset (HP:0003577). (PMID:11841538)
- Clubbing of fingers (HP:0100759): Terminal broadening of the fingers (distal phalanges of the fingers). Evidence: PCS. (PMID:9738775)
- Death in early adulthood (HP:0100613): Death between the age of 16 and 40 years. Evidence: PCS. Frequency: 3/12. (PMID:9738775)
- Autosomal recessive inheritance (HP:0000007): 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 individuals with two pathogenic alleles, either homozygotes (two copies of the same mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele). Evidence: PCS. (PMID:9738775)
- Congestive heart failure (HP:0001635): The presence of an abnormality of cardiac function that is responsible for the failure of the heart to pump blood at a rate that is commensurate with the needs of the tissues or a state in which abnormally elevated filling pressures are required for the heart to do so. Heart failure is frequently related to a defect in myocardial contraction. Evidence: PCS. (PMID:9738775)
- Palmoplantar scaling skin (HP:0025524): Loss of the outer layer of the epidermis in large, scale-like flakes localized to the palm of the hand and the sole of the foot. Evidence: PCS. Frequency: 1/2. (PMID:11841538)
- 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: 1/2. (PMID:11841538)
- Palmoplantar keratoderma (HP:0000982): Abnormal thickening of the skin of the palms of the hands and the soles of the feet. Evidence: PCS. Frequency: 12/12. (PMID:9738775)