Phenotypes associated with the disease Fraser syndrome (ORPHA:2052):
- Posteriorly rotated ears (HP:0000358): A type of abnormal location of the ears in which the position of the ears is characterized by posterior rotation (the superior part of the ears is rotated towards the back of the head, and the inferior part of the ears towards the front). Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:2052)
- Abnormal pinna morphology (HP:0000377): An abnormality of the pinna, which is also referred to as the auricle or external ear. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:2052)
- Tracheal stenosis (HP:0002777). Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:2052)
- Cleft ala nasi (HP:0003191): The presence of a notch in the margin of the ala nasi. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:2052)
- Vertebral segmentation defect (HP:0003422): An abnormality related to a defect of vertebral separation during development. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:2052)
- Midline nasal groove (HP:0004112): An abnormal groove on the midline of the nose that may extend to the nasal tip. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:2052)
- Ectopic anus (HP:0004397): Abnormal displacement or malposition of the anus. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:2052)
- Wide intermamillary distance (HP:0006610): A larger than usual distance between the left and right nipple. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:2052)
- Microtia (HP:0008551): Underdevelopment of the external ear. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:2052)
- Abnormal hair pattern (HP:0010720): An abnormality of the distribution of hair growth. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:2052)
- Abnormal cardiovascular system morphology (HP:0030680): Any structural anomaly of the heart and blood vessels. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:2052)
- Abnormal rib morphology (HP:0000772): An anomaly of the rib. Evidence: TAS. Frequency: Very rare (HP:0040284). (ORPHA:2052)
- Wide pubic symphysis (HP:0003183): Abnormally increased width of the pubic symphysis is the midline cartilaginous joint uniting the superior rami of the left and right pubic bones. Evidence: TAS. Frequency: Very rare (HP:0040284). (ORPHA:2052)
- Limb undergrowth (HP:0009826): Limb shortening because of underdevelopment of one or more bones of the extremities. Evidence: TAS. Frequency: Very rare (HP:0040284). (ORPHA:2052)
- Abnormality of the urinary system (HP:0000079): An abnormality of the urinary system. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:2052)
- Blindness (HP:0000618): Blindness is the condition of lacking visual perception defined as a profound reduction in visual perception. On the 6m visual acuity scale, blindness is defined as less than 3/60. On the 20ft visual acuity scale, blindness is defined as less than 20/400. On the decimal visual acuity scale, blindness is defined as less than 0.05. Blindness is typically characterized by a visual field of no greater than 10 degrees in radius around central fixation. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:2052)
- Cryptophthalmos (HP:0001126): Cryptophthalmos is a condition of total absence of eyelids and the skin of forehead is continuous with that of cheek, in which the eyeball is completely concealed by the skin, which is stretched over the orbital cavity. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:2052)
- Finger syndactyly (HP:0006101): Webbing or fusion of the fingers, involving soft parts only or including bone structure. Bony fusions are referred to as "bony" Syndactyly if the fusion occurs in a radio-ulnar axis. Fusions of bones of the fingers in a proximo-distal axis are referred to as "Symphalangism". Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:2052)
- Lacrimal duct aplasia (HP:0007925): A congenital defect resulting in absence of the lacrimal duct. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:2052)
- Malformed lacrimal duct (HP:0007993): Congenital malformation of the lacrimal duct associated with incomplete development of the bony nasolacrimal canal or craniofacial anomalies. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:2052)
- Renal hypoplasia/aplasia (HP:0008678): Absence or underdevelopment of the kidney. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:2052)
- Cutaneous syndactyly (HP:0012725): A soft tissue continuity in the A/P axis between two digits that extends distally to at least the level of the proximal interphalangeal joints, or a soft tissue continuity in the A/P axis between two digits that lies significantly distal to the flexion crease that overlies the metacarpophalangeal or metatarsophalangeal joint of the adjacent digits. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:2052)
- Small scrotum (HP:0000046): Apparently small scrotum for age. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:2052)
- Ambiguous genitalia (HP:0000062): A genital phenotype that is not clearly assignable to a single gender. Ambiguous genitalia can be evaluated using the Prader scale: Prader 0: Normal female external genitalia. Prader 1: Female external genitalia with clitoromegaly. Prader 2: Clitoromegaly with partial labial fusion forming a funnel-shaped urogenital sinus. Prader 3: Increased phallic enlargement. Complete labioscrotal fusion forming a urogenital sinus with a single opening. Prader 4: Complete scrotal fusion with urogenital opening at the base or on the shaft of the phallus. Prader 5: Normal male external genitalia. The diagnosis of ambiguous genitalia is made for Prader 1-4. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:2052)
- Abnormal vagina morphology (HP:0000142): Any structural abnormality of the vagina. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:2052)
- Vaginal atresia (HP:0000148): Congenital occlusion of the vagina or adhesion of the walls of the vagina causing occlusion. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:2052)
- 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: TAS. Frequency: Frequent (HP:0040282). (ORPHA:2052)
- Abnormality of the outer ear (HP:0000356): An abnormality of the external ear. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:2052)
- Abnormality of the middle ear (HP:0000370): An abnormality of the middle ear. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:2052)
- Anophthalmia (HP:0000528): Absence of the globe or eyeball. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:2052)
- Microphthalmia (HP:0000568): A developmental anomaly characterized by abnormal smallness of one or both eyes. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:2052)
- Dental crowding (HP:0000678): Changes in alignment of teeth in the dental arch. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:2052)
- Dental malocclusion (HP:0000689): Dental malocclusion refers to an abnormality of the occlusion, or alignment, of the teeth and the way the upper and lower teeth fit together, resulting in overcrowding of teeth or in abnormal bite patterns. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:2052)
- Laryngeal stenosis (HP:0001602): Stricture or narrowing of the larynx that may be associated with symptoms of respiratory difficulty depending on the degree of laryngeal narrowing. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:2052)
- Toe syndactyly (HP:0001770): Webbing or fusion of the toes, involving soft parts only or including bone structure. Bony fusions are referred to as "bony" Syndactyly if the fusion occurs in a radio-ulnar axis. Fusions of bones of the toes in a proximo-distal axis are referred to as "Symphalangism". Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:2052)
- Anal atresia (HP:0002023): Congenital absence of the anus, i.e., the opening at the bottom end of the intestinal tract. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:2052)
- Anal stenosis (HP:0002025): Abnormal narrowing of the anal opening. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:2052)
- Abnormal nasal morphology (HP:0005105). Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:2052)
- Depressed nasal bridge (HP:0005280): Posterior positioning of the nasal root in relation to the overall facial profile for age. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:2052)
- Hypoplasia of penis (HP:0008736). Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:2052)
- Laryngeal hypoplasia (HP:0008749): Underdevelopment of the larynx. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:2052)
- Bifid tongue (HP:0010297): Tongue with a median apical indentation or fork. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:2052)
- Female pseudohermaphroditism (HP:0010458): Hermaphroditism refers to a discrepancy between the morphology of the gonads and that of the external genitalia. In female pseudohermaphroditism, the genotype is female (XX) and the gonads are ovaries, but the external genitalia are virilized. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:2052)
- Anorectal anomaly (HP:0012732): An abnormality of the anus or rectum. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:2052)
- Cryptorchidism (HP:0000028): Testis in inguinal canal. That is, absence of one or both testes from the scrotum owing to failure of the testis or testes to descend through the inguinal canal to the scrotum. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:2052)
- 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:2052)
- Urethral atresia (HP:0000068): Congenital anomaly characterized by closure or failure to develop an opening in the urethra. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:2052)
- Orofacial cleft (HP:0000202): The presence of a cleft (gap, opening, or groove) in the oral cavity, including cleft of the upper lip and/or cleft of the palate. Cleft of the upper lip is visible as a groove or fissure in the lip, most frequently due to a congenital failure of the maxillary and median nasal processes to fuse. Cleft palate is characterized by a grooved depression or fissure in the roof of the mouth, most often resulting from a congenital failure of the palate to fuse properly. Clefts of the lip and palate can occur individually or together. It is preferable to code each defect separately. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:2052)
- Cleft upper lip (HP:0000204): A gap or groove in the upper lip. This is a congenital defect resulting from nonfusion of tissues of the lip during embryonal development. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:2052)
- 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: Occasional (HP:0040283). (ORPHA:2052)
- Microcephaly (HP:0000252): Head circumference below 2 standard deviations below the mean for age and gender. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:2052)
- Conductive hearing impairment (HP:0000405): An abnormality of vibrational conductance of sound to the inner ear leading to impairment of sensory perception of sound. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:2052)
- Atresia of the external auditory canal (HP:0000413): Absence or failure to form of the external auditory canal. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:2052)
- Underdeveloped nasal alae (HP:0000430): Thinned, deficient, or excessively arched ala nasi. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:2052)
- Wide nasal bridge (HP:0000431): Increased breadth of the nasal bridge (and with it, the nasal root). Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:2052)
- Bicornuate uterus (HP:0000813): The presence of a bicornuate uterus. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:2052)
- Intellectual disability (HP:0001249): The term intellectual disability or intellectual developmental disorder is used to describe significantly sub-average intellectual and adaptive functioning based on clinical assessment and as measured by individually administered, appropriately normed, standardized and validated tests of intellectual functioning and adaptive behavior, with onset during the developmental period from infancy through adolescence. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:2052)
- Calvarial skull defect (HP:0001362): A localized defect in the bone of the skull resulting from abnormal embryological development. The defect is covered by normal skin. In some cases, skull x-rays have shown underlying lytic bone lesions which have closed before the age of one year. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:2052)
- Death in infancy (HP:0001522): Death within the first 24 months of life. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:2052)
- Umbilical hernia (HP:0001537): Protrusion of abdominal contents through a defect in the abdominal wall musculature around the umbilicus. Skin and subcutaneous tissue overlie the defect. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:2052)
- Omphalocele (HP:0001539): A midline anterior incomplete closure of the abdominal wall in which there is herniation of the abdominal viscera into the base of the abdominal cord. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:2052)
- Subglottic stenosis (HP:0001607). Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:2052)
- Encephalocele (HP:0002084): A neural tube defect characterized by sac-like protrusions of the brain and the membranes that cover it through openings in the skull. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:2052)
- Pulmonary hypoplasia (HP:0002089). Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:2052)
- Abnormal lung lobation (HP:0002101): A developmental defect in the formation of pulmonary lobes. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:2052)
- Myelomeningocele (HP:0002475): Protrusion of the meninges and portions of the spinal cord through a defect of the vertebral column. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:2052)