Phenotypes associated with the disease Oculoectodermal syndrome (ORPHA:3339):
- Hypospadias (HP:0000047): Abnormal position of urethral meatus on the ventral penile shaft (underside) characterized by displacement of the urethral meatus from the tip of the glans penis to the ventral surface of the penis, scrotum, or perineum. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:3339)
- Eyelid coloboma (HP:0000625): A short discontinuity of the margin of the lower or upper eyelid. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:3339)
- Abnormal facial shape (HP:0001999): An abnormal morphology (form) of the face or its components. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:3339)
- Abnormal conjunctiva morphology (HP:0000502): An abnormality of the conjunctiva. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:3339)
- Limbal dermoid (HP:0001140): A benign tumor typically found at the junction of the cornea and sclera (limbal epibullar dermoid). Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:3339)
- Agenesis of corpus callosum (HP:0001274): Absence of the corpus callosum as a result of the failure of the corpus callosum to develop, which can be the result of a failure in any one of the multiple steps of callosal development including cellular proliferation and migration, axonal growth or glial patterning at the midline. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:3339)
- Absent septum pellucidum (HP:0001331): Absence of the septum pellucidum (meaning translucent wall in Latin - SP), also known as the ventricle of Sylvius. The septum pellucidum is a thin, triangular double membrane separating the frontal horns of the right and left lateral ventricles of the brain. It extends between the anterior portion of the corpus callosum, and the body of the fornix and its width varies from 1.5 to 3.0 mm. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:3339)
- Generalized hyperpigmentation (HP:0007440). Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:3339)
- Aplasia/Hypoplasia of the skin (HP:0008065). Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:3339)
- Abnormal nervous system morphology (HP:0012639): A structural anomaly of the nervous system. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:3339)
- Abnormality of the ureter (HP:0000069): An abnormality of the ureter. The ureter is the duct by which urine passes from the kidney to the bladder. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:3339)
- Macrocephaly (HP:0000256): Occipitofrontal (head) circumference greater than 97th centile compared to appropriate, age matched, sex-matched normal standards. Alternatively, a apparently increased size of the cranium. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:3339)
- 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:3339)
- Hearing impairment (HP:0000365): A decreased magnitude of the sensory perception of sound. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:3339)
- 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:3339)
- Strabismus (HP:0000486): A misalignment of the eyes so that the visual axes deviate from bifoveal fixation. The classification of strabismus may be based on a number of features including the relative position of the eyes, whether the deviation is latent or manifest, intermittent or constant, concomitant or otherwise and according to the age of onset and the relevance of any associated refractive error. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:3339)
- Telecanthus (HP:0000506): Distance between the inner canthi more than two standard deviations above the mean (objective); or, apparently increased distance between the inner canthi. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:3339)
- Proptosis (HP:0000520): An eye that is protruding anterior to the plane of the face to a greater extent than is typical. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:3339)
- Blepharophimosis (HP:0000581): A fixed reduction in the vertical distance between the upper and lower eyelids with short palpebral fissures. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:3339)
- Abnormality of the ear (HP:0000598): An abnormality of the ear. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:3339)
- Brachydactyly (HP:0001156): Digits that appear disproportionately short compared to the hand/foot. The word brachydactyly is used here to describe a series distinct patterns of shortened digits (brachydactyly types A-E). This is the sense used here. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:3339)
- 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: TAS. Frequency: Frequent (HP:0040282). (ORPHA:3339)
- Failure to thrive (HP:0001508): Failure to thrive (FTT) refers to a child whose physical growth is substantially below the norm. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:3339)
- Growth delay (HP:0001510): A deficiency or slowing down of growth pre- and postnatally. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:3339)
- Polyhydramnios (HP:0001561): The presence of excess amniotic fluid in the uterus during pregnancy. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:3339)
- Abnormality of the cardiovascular system (HP:0001626): Any abnormality of the cardiovascular system. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:3339)
- Aganglionic megacolon (HP:0002251): An abnormality resulting from a lack of intestinal ganglion cells (i.e., an aganglionic section of bowel) that results in bowel obstruction with enlargement of the colon. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:3339)
- Short nose (HP:0003196): Distance from nasion to subnasale more than two standard deviations below the mean, or alternatively, an apparently decreased length from the nasal root to the nasal tip. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:3339)
- Short palm (HP:0004279): Short palm. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:3339)
- Laryngeal hypoplasia (HP:0008749): Underdevelopment of the larynx. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:3339)
- Feeding difficulties (HP:0011968): Impaired ability to eat related to problems gathering food and getting ready to suck, chew, or swallow it. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:3339)
- Short palpebral fissure (HP:0012745): Distance between the medial and lateral canthi is more than 2 SD below the mean for age (objective); or, apparently reduced length of the palpebral fissures. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:3339)
- Abnormal cardiovascular system morphology (HP:0030680): Any structural anomaly of the heart and blood vessels. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:3339)
- Abnormality of the bladder (HP:0000014): An abnormality of the urinary bladder. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:3339)
- Abnormal penis morphology (HP:0000036): Abnormality of the male external sex organ. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:3339)
- Epispadias (HP:0000039): Epispadias is a urogenital malformation characterized by the failure of the urethral tube to tubularize on the dorsal aspect. Unlike in hypospadias, where the meatus is on the ventral aspect, children with epispadias have a wide-open urethral plate on the dorsum. It is commonly seen as a component in the spectrum of bladder exstrophy-epispadias-complex. Isolated epispadias constitutes less than 10 percent of the total cases of epispadias. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:3339)