Phenotypes associated with the disease Lethal acantholytic erosive disorder (ORPHA:158687):
- Absent eyelashes (HP:0000561): Lack of eyelashes. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:158687)
- Natal tooth (HP:0000695): A tooth present at birth or erupting within the first month of life. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:158687)
- Fragile skin (HP:0001030): Skin that splits easily with minimal injury. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:158687)
- Absent toenail (HP:0001802): Congenital absence of the toenail. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:158687)
- Absent fingernail (HP:0001817): Absence of a fingernail. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:158687)
- Absent eyebrow (HP:0002223): Absence of the eyebrow. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:158687)
- Absent hair (HP:0002298). Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:158687)
- Respiratory failure (HP:0002878): A severe form of respiratory insufficiency characterized by inadequate gas exchange such that the levels of oxygen or carbon dioxide cannot be maintained within normal limits. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:158687)
- Congenital alopecia totalis (HP:0005597): Loss of all scalp hair with congenital onset. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:158687)
- Hypovolemic shock (HP:0031274): A state of shock characterized by decreased circulating blood volume in relation to total vascular capacity. This type of shock is characterized by a reduction of diastolic filling pressures. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:158687)
- Abnormal dermoepidermal junction morphology (HP:0031538): Any anomaly of the structure of the acellular zone that is between the dermis and the epidermis and which functions to bind the epidermis to the dermis and to serve as a selective barrier allowing the control of molecular and cellular exchanges between the two compartments. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:158687)
- Abnormal dermoepidermal hemidesmosome morphology (HP:0032449): An abnormal structure or appearance of hemidesmosomes, multiprotein complexes that facilitate the stable adhesion of basal epithelial cells to the underlying basement membrane. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:158687)
- Acantholysis (HP:0100792): The loss of intercellular connections, such as desmosomes, resulting in loss of cohesion between keratinocytes. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:158687)
- Cleft palate (HP:0000175): Cleft palate is a developmental defect of the palate resulting from a failure of fusion of the palatine processes and manifesting as a separation of the roof of the mouth (soft and hard palate). Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:158687)
- Abnormal pinna morphology (HP:0000377): An abnormality of the pinna, which is also referred to as the auricle or external ear. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:158687)
- Abnormality of the skeletal system (HP:0000924): An abnormality of the skeletal system. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:158687)
- 2-3 finger cutaneous syndactyly (HP:0001233): A soft tissue continuity in the anteroposterior axis between the second to the third fingers that extends distally to at least the level of the proximal interphalangeal joints. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:158687)
- Intrauterine growth retardation (HP:0001511): An abnormal restriction of fetal growth with fetal weight below the tenth percentile for gestational age. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:158687)
- Oligohydramnios (HP:0001562): Diminished amniotic fluid volume in pregnancy. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:158687)
- Cardiomyopathy (HP:0001638): A myocardial disorder in which the heart muscle is structurally and functionally abnormal, in the absence of coronary artery disease, hypertension, valvular disease and congenital heart disease sufficient to cause the observed myocardial abnormality. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:158687)
- Cardiomegaly (HP:0001640): Increased size of the heart, clinically defined as an increased transverse diameter of the cardiac silhouette that is greater than or equal to 50% of the transverse diameter of the chest (increased cardiothoracic ratio) on a posterior-anterior projection of a chest radiograph or a computed tomography. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:158687)
- Camptodactyly of toe (HP:0001836): Camptodactyly is a painless flexion contracture of the proximal interphalangeal (PIP) joint that is usually gradually progressive. This term refers to camptodactyly of one or more toes. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:158687)
- Clinodactyly of the 5th finger (HP:0004209): Clinodactyly refers to a bending or curvature of the fifth finger in the radial direction (i.e., towards the 4th finger). Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:158687)
- 3-4 finger osseus syndactyly (HP:0006097): Fusion of the third (middle) and fourth (ring) finger, involving soft parts and including fusion of individual finger bones. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:158687)
- Impaired myocardial contractility (HP:0006670). Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:158687)
- 4-5 finger cutaneous syndactyly (HP:0010705): A soft tissue continuity in the anteroposterior axis between the fourth (ring) to the fifth (little) finger that extends distally to at least the level of the proximal interphalangeal joints. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:158687)
- Abnormal helix morphology (HP:0011039): An abnormality of the helix. The helix is the outer rim of the ear that extends from the insertion of the ear on the scalp (root) to the termination of the cartilage at the earlobe. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:158687)