Phenotypes associated with the disease cutis laxa, autosomal recessive, type 1B (OMIM:614437):
- Stroke (HP:0001297): Sudden impairment of blood flow to a part of the brain due to occlusion or rupture of an artery to the brain. Evidence: PCS. Frequency: 1/3. (PMID:20389311)
- Dermal translucency (HP:0010648): An abnormally increased ability of the skin to permit light to pass through (translucency) such that subcutaneous structures such as veins display an increased degree of visibility. Evidence: PCS. Frequency: 1/1. (PMID:16685658)
- Right ventricular dilatation (HP:0005133): Enlargement of the chamber of the right ventricle, which can be defined echocardiographically as a right ventricular to left ventricular ratio greater than 1:1. Evidence: PCS. Frequency: 1/1. (PMID:17937443)
- Hypotonia (HP:0001252): Hypotonia is an abnormally low muscle tone (the amount of tension or resistance to movement in a muscle). Even when relaxed, muscles have a continuous and passive partial contraction which provides some resistance to passive stretching. Hypotonia thus manifests as diminished resistance to passive stretching. Hypotonia is not the same as muscle weakness, although the two conditions can co-exist. Evidence: PCS. Frequency: 1/1. (PMID:16685658)
- Pulmonic regurgitation (HP:0010444): The retrograde (backwards) flow of blood through the pulmonary valve into the right ventricle during diastole. Evidence: TAS. (OMIM:614437)
- Prominent forehead (HP:0011220): Forward prominence of the entire forehead, due to protrusion of the frontal bone. Evidence: TAS. (OMIM:614437)
- Hypertelorism (HP:0000316): Interpupillary distance more than 2 SD above the mean (alternatively, the appearance of an increased interpupillary distance or widely spaced eyes). Evidence: PCS. Frequency: 12/13. (OMIM:614437;PMID:20389311)
- Aortic root aneurysm (HP:0002616): An abnormal localized widening (dilatation) of the aortic root. Evidence: PCS. Frequency: 1/1. (PMID:16685658)
- Long fingers (HP:0100807): The middle finger is more than 2 SD above the mean for newborns 27 to 41 weeks EGA or above the 97th centile for children from birth to 16 years of age AND the five digits retain their normal length proportions relative to each other (i.e., it is not the case that the middle finger is the only lengthened digit), or, Fingers that appear disproportionately long compared to the palm of the hand. Evidence: PCS. Frequency: 1/3. (PMID:20389311)
- Spina bifida (HP:0002414): Incomplete closure of the embryonic neural tube, whereby some vertebral arches remain unfused and open. The mildest form is spina bifida occulta, followed by meningocele and meningomyelocele. Evidence: PCS. Frequency: 1/1. (PMID:19664000)
- Retrognathia (HP:0000278): An abnormality in which the mandible is mislocalised posteriorly. Evidence: PCS. Frequency: 1/3. (PMID:20389311)
- Generalized arterial tortuosity (HP:0004955): Abnormal tortuous (i.e., twisted) form of arteries affecting most or all arteries. Evidence: PCS. Frequency: 1/1. (PMID:16685658)
- Microcephaly (HP:0000252): Head circumference below 2 standard deviations below the mean for age and gender. Evidence: TAS. Frequency: Occasional (HP:0040283). (OMIM:614437)
- Downslanted palpebral fissures (HP:0000494): The palpebral fissure inclination is more than two standard deviations below the mean. Evidence: TAS. (OMIM:614437)
- Prominence of the premaxilla (HP:0010759): Prominent positioning of the premaxilla in relation to the rest of the maxilla, the facial skeleton, or mandible. Not necessarily caused by an increase in size (hypertrophy of) the premaxilla. Evidence: TAS. (OMIM:614437)
- Bradycardia (HP:0001662): A slower than normal heart rate (in adults, slower than 60 beats per minute). Evidence: PCS. Frequency: 1/1. (PMID:19664000)
- Joint hypermobility (HP:0001382): The capability that a joint (or a group of joints) has to move, passively and/or actively, beyond normal limits along physiological axes. Evidence: PCS. Frequency: 1/3. (PMID:20389311)
- Ascending tubular aorta aneurysm (HP:0004970): An abnormal localized widening (dilatation) of the tubular part of the ascending aorta. Evidence: PCS. Frequency: 1/1. (PMID:17937443)
- Tricuspid regurgitation (HP:0005180): Failure of the tricuspid valve to close sufficiently upon contraction of the right ventricle, causing blood to regurgitate (flow backward) into the right atrium. Evidence: PCS. Frequency: 1/1. (PMID:17937443)
- Scarring (HP:0100699): A scar refers to a lesion in which wound, burn, or sore has not healed completely and fibrous connective tissue has developed. Evidence: PCS. Frequency: 0/1. (PMID:20389311)
- Pulmonary artery dilatation (HP:0004927): An abnormal widening of the diameter of the pulmonary artery. Evidence: TAS. (OMIM:614437)
- Pectus excavatum (HP:0000767): A defect of the chest wall characterized by a depression of the sternum, giving the chest ("pectus") a caved-in ("excavatum") appearance. Evidence: PCS. Frequency: 1/1. (PMID:16685658)
- 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:16685658)
- 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: 1/1. (PMID:19664000)
- Proptosis (HP:0000520): An eye that is protruding anterior to the plane of the face to a greater extent than is typical. Evidence: TAS. (OMIM:614437)
- Low-set ears (HP:0000369): Upper insertion of the ear to the scalp below an imaginary horizontal line drawn between the inner canthi of the eye and extending posteriorly to the ear. Evidence: TAS. (OMIM:614437)
- Congenital onset (HP:0003577): A phenotypic abnormality that is present at birth. Evidence: PCS. Frequency: 2/2. (PMID:16685658;PMID:17937443)
- Arterial tortuosity (HP:0005116): Abnormal tortuous (i.e., twisted) form of arteries. Evidence: PCS. Frequency: 4/4. (PMID:16685658;PMID:20389311)
- Inguinal hernia (HP:0000023): Protrusion of the contents of the abdominal cavity through the inguinal canal. Evidence: PCS. Frequency: 1/1. (PMID:16685658)
- Flat face (HP:0012368): Absence of concavity or convexity of the face when viewed in profile. Evidence: PCS. Frequency: 1/3. (PMID:20389311)
- Overgrowth (HP:0001548): Excessive postnatal growth which may comprise increased weight, increased length, and/or increased head circumference. Evidence: TAS. Frequency: 1/1. (OMIM:614437)
- Pulmonary artery aneurysm (HP:0004937): An aneurysm (severe localized balloon-like outward bulging) in the pulmonary artery. Evidence: TAS. (OMIM:614437)
- Bulbous nose (HP:0000414): Increased volume and globular shape of the anteroinferior aspect of the nose. Evidence: TAS. (OMIM:614437)
- Soft skin (HP:0000977): Subjective impression of increased softness upon palpation of the skin. Evidence: PCS. Frequency: 2/4. (PMID:16685658;PMID:20389311)
- High palate (HP:0000218): Height of the palate more than 2 SD above the mean (objective) or palatal height at the level of the first permanent molar more than twice the height of the teeth (subjective). Evidence: PCS. Frequency: 11/13. (OMIM:614437;PMID:20389311)
- Abnormal pinna morphology (HP:0000377): An abnormality of the pinna, which is also referred to as the auricle or external ear. Evidence: PCS. Frequency: 1/1. (PMID:19664000)
- Congenital diaphragmatic hernia (HP:0000776): The presence of a hernia of the diaphragm present at birth. Evidence: PCS. Frequency: 1/1. (PMID:16685658)
- Cutis laxa (HP:0000973): Wrinkled, redundant, inelastic and sagging skin. Evidence: PCS. Frequency: 3/3. (PMID:16685658;PMID:19664000;PMID:17937443)
- Oligohydramnios (HP:0001562): Diminished amniotic fluid volume in pregnancy. Evidence: PCS. Frequency: 2/2. (PMID:16685658;PMID:19664000)
- Arachnodactyly (HP:0001166): Abnormally long and slender fingers (spider fingers). Evidence: PCS. Frequency: 2/2. (OMIM:614437;PMID:19664000)
- Intussusception (HP:0002576): An abnormality of the intestine in which part of the intestine invaginates (telescopes) into another part of the intestine. Evidence: PCS. Frequency: 1/1. (PMID:17937443)
- Emphysema (HP:0002097). Evidence: PCS. Frequency: 1/1. (PMID:16685658)
- Narrow palpebral fissure (HP:0045025): Reduction in the vertical distance between the upper and lower eyelids. Evidence: TAS. Frequency: 1/1. (OMIM:614437)
- Pulmonary arterial hypertension (HP:0002092): Pulmonary hypertension is defined mean pulmonary artery pressure of 25mmHg or more and pulmonary capillary wedge pressure of 15mmHg or less when measured by right heart catheterisation at rest and in a supine position. Evidence: PCS. Frequency: 1/1. (PMID:17937443)
- Depressed nasal bridge (HP:0005280): Posterior positioning of the nasal root in relation to the overall facial profile for age. Evidence: TAS. Frequency: Occasional (HP:0040283). (OMIM:614437)
- Hypoplasia of the diaphragm (HP:0040044). Evidence: PCS. Frequency: 1/1. (PMID:19664000)
- Death in childhood (HP:0003819): Death in during childhood, defined here as between the ages of 2 and 10 years. Evidence: PCS. Frequency: 1/3. (PMID:20389311)
- Vascular tortuosity (HP:0004948): Abnormal twisting of arteries or veins. Evidence: PCS. Frequency: 2/2. (PMID:16685658;PMID:19664000)
- Bowing of the long bones (HP:0006487): A bending or abnormal curvature of a long bone. Evidence: PCS. Frequency: 1/1. (PMID:19664000)
- Neonatal death (HP:0003811): Death within the first 28 days of life. Evidence: PCS. Frequency: 2/2. (PMID:19664000;PMID:17937443)
- Micrognathia (HP:0000347): Developmental hypoplasia of the mandible. Evidence: TAS. Frequency: 1/1. (OMIM:614437)