Phenotypes associated with the disease cutis laxa, autosomal dominant 1 (OMIM:123700):
- Congenital onset (HP:0003577): A phenotypic abnormality that is present at birth. Evidence: PCS. Frequency: 3/3. (PMID:15955094)
- Long philtrum (HP:0000343): Distance between nasal base and midline upper lip vermilion border more than 2 SD above the mean. Alternatively, an apparently increased distance between nasal base and midline upper lip vermilion border. Evidence: PCS. Frequency: 1/4. (PMID:15955094)
- Poor wound healing (HP:0001058): A reduced ability to heal cutaneous wounds. Evidence: PCS. Frequency: 0/2. (PMID:9580666)
- Inguinal hernia (HP:0000023): Protrusion of the contents of the abdominal cavity through the inguinal canal. Evidence: PCS. Frequency: 4/6. (PMID:9580666;PMID:15955094)
- Bronchiectasis (HP:0002110): Persistent abnormal dilatation of the bronchi owing to localized and irreversible destruction and widening of the large airways. Evidence: PCS. Frequency: 2/3. (PMID:15955094)
- Redundant skin (HP:0001582): Loose and sagging skin often associated with loss of skin elasticity. Evidence: PCS. Frequency: 2/2. (PMID:9580666)
- Emphysema (HP:0002097). Evidence: PCS. Frequency: 2/3. (PMID:15955094)
- Dyspnea (HP:0002094): Difficult or labored breathing. Dyspnea is a subjective feeling only the patient can rate, e.g., on a Borg scale. Evidence: PCS. Frequency: 1/3. (PMID:15955094)
- Ventricular septal defect (HP:0001629): A hole between the two bottom chambers (ventricles) of the heart. The defect is centered around the most superior aspect of the ventricular septum. Evidence: PCS. Frequency: 1/3. (PMID:15955094)
- Prematurely aged appearance (HP:0007495). Evidence: PCS. (PMID:15955094)
- 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. Frequency: 1/3. (PMID:15955094)
- Uterine prolapse (HP:0000139): The presence of prolapse of the uterus. Evidence: PCS. Frequency: 1/3. (PMID:15955094)
- Peripheral pulmonary artery stenosis (HP:0004969): Stenosis of a peripheral branch of the pulmonary artery. Evidence: PCS. Frequency: 1/1. (PMID:9580666)
- Aortic regurgitation (HP:0001659): An insufficiency of the aortic valve, leading to regurgitation (backward flow) of blood from the aorta into the left ventricle. Evidence: TAS. (OMIM:123700)
- 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: 1/3. (PMID:15955094)
- Mitral regurgitation (HP:0001653): An abnormality of the mitral valve characterized by insufficiency or incompetence of the mitral valve resulting in retrograde leaking of blood through the mitral valve upon ventricular contraction. Evidence: TAS. (OMIM:123700)
- 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:9580666)
- Hyperextensible skin (HP:0000974): A condition in which the skin can be stretched beyond normal, and then returns to its initial position. Evidence: PCS. Frequency: 0/2. (PMID:9580666)
- Progeroid facial appearance (HP:0005328): A degree of wrinkling of the facial skin that is more than expected for the age of the individual, leading to a prematurely aged appearance. Evidence: PCS. (PMID:15955094)
- Cutis laxa (HP:0000973): Wrinkled, redundant, inelastic and sagging skin. Evidence: PCS. Frequency: 2/3. (PMID:15955094)