Phenotypes associated with the disease Acitretin/etretinate embryopathy (ORPHA:40366):
- Maternal teratogenic exposure (HP:0011438): A medical history of exposure of the mother of a child or fetus to a teratogenic substance during pregnancy. Evidence: TAS. Frequency: Obligate (HP:0040280). (ORPHA:40366)
- 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: TAS. Frequency: Frequent (HP:0040282). (ORPHA:40366)
- Microcephaly (HP:0000252): Head circumference below 2 standard deviations below the mean for age and gender. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:40366)
- Epicanthus (HP:0000286): A fold of skin starting above the medial aspect of the upper eyelid and arching downward to cover, pass in front of and lateral to the medial canthus. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:40366)
- Micrognathia (HP:0000347): Developmental hypoplasia of the mandible. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:40366)
- Cupped ear (HP:0000378): Laterally protruding ear that lacks antihelical folding (including absence of inferior and superior crura). Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:40366)
- Anteverted nares (HP:0000463): Anteriorly-facing nostrils viewed with the head in the Frankfurt horizontal and the eyes of the observer level with the eyes of the subject. This gives the appearance of an upturned nose (upturned nasal tip). Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:40366)
- Abnormal retinal morphology (HP:0000479): A structural abnormality of the retina. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:40366)
- Hypoplasia of the thymus (HP:0000778): Underdevelopment of the thymus. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:40366)
- Premature birth (HP:0001622): The birth of a baby of less than 37 weeks of gestational age. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:40366)
- Bradycardia (HP:0001662): A slower than normal heart rate (in adults, slower than 60 beats per minute). Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:40366)
- Conotruncal defect (HP:0001710): A congenital malformation of the outflow tract of the heart. Conotruncal defects are thought to result from a disturbance of the outflow tract of the embryonic heart, and comprise truncus arteriosus, tetralogy of Fallot, interrupted aortic arch, transposition of the great arteries, and double outlet right ventricle. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:40366)
- Abnormal facial shape (HP:0001999): An abnormal morphology (form) of the face or its components. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:40366)
- Hypoplastic nasal septum (HP:0005104): Underdevelopment of the nasal septum. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:40366)
- Atrioventricular canal defect (HP:0006695): A defect of the atrioventricular septum of the heart. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:40366)
- Aplasia/Hypoplasia of the optic nerve (HP:0008058). Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:40366)
- Abnormality of the calcaneus (HP:0008364): An abnormality of the calcaneus, also known as the heel bone, one of the or heel bone, one of the components of the tarsus of the foot which make up the heel. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:40366)
- Microtia (HP:0008551): Underdevelopment of the external ear. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:40366)
- Bilateral sensorineural hearing impairment (HP:0008619): A form of sensorineural hearing impairment that affects both ears. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:40366)
- Median cleft palate (HP:0009099): Cleft palate of the midline of the palate. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:40366)
- Aplasia/Hypoplasia of the maxilla (HP:0009117): Absence or underdevelopment of the maxilla. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:40366)
- Neurodevelopmental abnormality (HP:0012759): A deviation from normal of the neurological development of a child, which may include any or all of the aspects of the development of personal, social, gross or fine motor, and cognitive abilities. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:40366)
- Preauricular skin tag (HP:0000384): A rudimentary tag of skin often containing ear tissue including a core of cartilage and located just anterior to the auricle (outer part of the ear). Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:40366)
- Third degree atrioventricular block (HP:0001709): Third-degree atrioventricular (AV) block (also referred to as complete heart block) is the complete dissociation of the atria and the ventricles. Third-degree AV block exists when more P waves than QRS complexes exist and no relationship (no conduction) exists between them. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:40366)
- Aplasia/hypoplasia involving bones of the lower limbs (HP:0006493): Absence (due to failure to form) or underdevelopment of the bones of the lower limbs. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:40366)
- Aplasia/hypoplasia involving bones of the upper limbs (HP:0006496): Absence (due to failure to form) or underdevelopment of the bones of the upper limbs. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:40366)
- Antecubital pterygium (HP:0009760): Pterygium affecting the elbow. This is a cutaneous web that can lead to severe flexion contracture of the elbow joint. Antecubital pterygium can be unilateral, bilateral, symmetric, or asysmmetric. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:40366)