Phenotypes associated with the disease Feingold syndrome type 1 (OMIM:164280):
- 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: IEA. (OMIM:164280)
- Upslanted palpebral fissure (HP:0000582): The palpebral fissure inclination is more than two standard deviations above the mean for age (objective); or, the inclination of the palpebral fissure is greater than typical for age. Evidence: IEA. (OMIM:164280)
- Congenital onset (HP:0003577): A phenotypic abnormality that is present at birth. Evidence: PCS. Frequency: 77/77. (PMID:15821734)
- Hearing impairment (HP:0000365): A decreased magnitude of the sensory perception of sound. Evidence: PCS. Frequency: 8/77. (PMID:15821734)
- Mild intellectual disability (HP:0001256): Mild intellectual disability (ID) is defined as a type of ID characterized by mildly sub-average adaptive functioning and intellectual functioning, with an intelligence quotient (IQ) the range of 50-69. Evidence: PCS. Frequency: 39/77. (PMID:15821734)
- 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: IEA. (OMIM:164280)
- Jejunal atresia (HP:0005235): A developmental defect resulting in abnormal closure, or atresia of the tubular structure of the jejunum. Evidence: PCS. Frequency: 2/77. (PMID:15821734)
- Blepharophimosis (HP:0000581): A fixed reduction in the vertical distance between the upper and lower eyelids with short palpebral fissures. Evidence: IEA. (OMIM:164280)
- 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: PCS. Frequency: 56/77. (PMID:15821734)
- Interrupted aortic arch (HP:0011611): Non-continuity of the arch of aorta with an atretic point or absent segment. Evidence: PCS. Frequency: 1/77. Onset: Congenital onset (HP:0003577). (PMID:15821734)
- Tricuspid stenosis (HP:0010446): A narrowing of the orifice of the tricuspid valve of the heart. Evidence: PCS. Frequency: 1/77. Onset: Congenital onset (HP:0003577). (PMID:15821734)
- Ventricular septal defect (HP:0001629): A hole between the two bottom chambers (ventricles) of the heart. The defect is centered around the most superior aspect of the ventricular septum. Evidence: PCS. Frequency: 2/77. (PMID:15821734)
- Tricuspid atresia (HP:0011662): Failure to develop of the tricuspid valve and thus lack of the normal connection between the right atrium and the right ventricle. Evidence: PCS. Frequency: 1/77. (PMID:15821734)
- Thick vermilion border (HP:0012471): Increased width of the skin of vermilion border region of upper lip. Evidence: TAS. (OMIM:164280)
- Asplenia (HP:0001746): Absence (aplasia) of the spleen. Evidence: TAS. Onset: Congenital onset (HP:0003577). (OMIM:164280)
- Depressed nasal tip (HP:0000437): Decreased distance from the nasal tip to the nasal base. Evidence: IEA. (OMIM:164280)
- Specific learning disability (HP:0001328): Impairment of certain skills such as reading or writing, coordination, self-control, or attention that interfere with the ability to learn. The impairment is not related to a global deficiency of intelligence. Evidence: IEA. (OMIM:164280)
- Polysplenia (HP:0001748): Polysplenia is a congenital disease manifested by multiple small accessory spleens. Evidence: IEA. (OMIM:164280)
- Vocal cord paralysis (HP:0001605): A loss of the ability to move the vocal folds. Evidence: IEA. (OMIM:164280)
- Accessory spleen (HP:0001747): An accessory spleen is a round, iso-echogenic, homogenic and smooth structure and is seen as a normal variant mostly on the medial contour of the spleen, near the hilus or around the lower pole. This has no pathogenic relevance. Evidence: IEA. (OMIM:164280)
- 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: IEA. (OMIM:164280)
- Patent ductus arteriosus (HP:0001643): In utero, the ductus arteriosus (DA) serves to divert ventricular output away from the lungs and toward the placenta by connecting the main pulmonary artery to the descending aorta. A patent ductus arteriosus (PDA) in the first 3 days of life is a physiologic shunt in healthy term and preterm newborn infants, and normally is substantially closed within about 24 hours after bith and completely closed after about three weeks. Failure of physiologcal closure is referred to a persistent or patent ductus arteriosus (PDA). Depending on the degree of left-to-right shunting, PDA can have clinical consequences. Evidence: PCS. Frequency: 9/77. (PMID:15821734)
- 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. (OMIM:164280)
- 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: IEA. (OMIM:164280)
- Small anterior fontanelle (HP:0000237): Abnormally decreased size of the anterior fontanelle with respect to age-dependent norms. Evidence: IEA. Onset: Congenital onset (HP:0003577). (OMIM:164280)
- Tracheoesophageal fistula (HP:0002575): An abnormal connection (fistula) between the esophagus and the trachea. Evidence: IEA. (OMIM:164280)
- Microcephaly (HP:0000252): Head circumference below 2 standard deviations below the mean for age and gender. Evidence: IEA. (OMIM:164280)
- Polyhydramnios (HP:0001561): The presence of excess amniotic fluid in the uterus during pregnancy. Evidence: IEA. (OMIM:164280)
- Wide nasal bridge (HP:0000431): Increased breadth of the nasal bridge (and with it, the nasal root). Evidence: IEA. (OMIM:164280)
- Everted lower lip vermilion (HP:0000232): An abnormal configuration of the lower lip such that it is turned outward i.e., everted, with the Inner aspect of the lower lip vermilion (normally opposing the teeth) being visible in a frontal view. Evidence: IEA. (OMIM:164280)
- Esophageal atresia (HP:0002032): A developmental defect resulting in complete obliteration of the lumen of the esophagus such that the esophagus ends in a blind pouch rather than connecting to the stomach. Evidence: IEA. Frequency: 25/77. Onset: Congenital onset (HP:0003577). (OMIM:164280)
- 4-5 toe syndactyly (HP:0004692): Syndactyly with fusion of toes four and five. Evidence: PCS. Frequency: 58/77. (PMID:15821734)
- 2-3 toe syndactyly (HP:0004691): Syndactyly with fusion of toes two and three. Evidence: PCS. Frequency: 57/77. (PMID:15821734)
- Narrow palpebral fissure (HP:0045025): Reduction in the vertical distance between the upper and lower eyelids. Evidence: IEA. (OMIM:164280)
- Short middle phalanx of finger (HP:0005819): Short (hypoplastic) middle phalanx of finger, affecting one or more fingers. Evidence: PCS. Frequency: 77/77. (PMID:15821734)
- Annular pancreas (HP:0001734): A congenital anomaly in which the pancreas completely (or sometimes incompletely) encircles the second portion of duodenum and occasionally obstructs the more proximal duodenum. Evidence: IEA. (OMIM:164280)
- Decreased fetal movement (HP:0001558): An abnormal reduction in quantity or strength of fetal movements. Evidence: IEA. (OMIM:164280)
- Short thumb (HP:0009778): Hypoplasia (congenital reduction in size) of the thumb. Evidence: PCS. Frequency: 13/77. (PMID:15821734)
- Autosomal dominant inheritance (HP:0000006): 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 heterozygotes. In the context of medical genetics, an autosomal dominant disorder is caused when a single copy of the mutant allele is present. Males and females are affected equally, and can both transmit the disorder with a risk of 50% for each child of inheriting the mutant allele. Evidence: PCS. (PMID:15821734)
- Duodenal atresia (HP:0002247): A developmental defect resulting in complete obliteration of the duodenal lumen, that is, an abnormal closure of the duodenum. Evidence: IEA. Frequency: 24/77. (OMIM:164280)
- 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: IEA. (OMIM:164280)
- Micrognathia (HP:0000347): Developmental hypoplasia of the mandible. Evidence: PCS. Frequency: 25/77. (PMID:15821734)
- Triangular face (HP:0000325): Facial contour, as viewed from the front, triangular in shape, with breadth at the temples and tapering to a narrow chin. Evidence: IEA. (OMIM:164280)
- Facial asymmetry (HP:0000324): An abnormal difference between the left and right sides of the face. Evidence: IEA. (OMIM:164280)
- Prominent occiput (HP:0000269): Increased convexity of the occiput (posterior part of the skull). Evidence: IEA. (OMIM:164280)
- Short toe (HP:0001831): A toe that appears disproportionately short compared to the foot. Evidence: IEA. (OMIM:164280)
- Gastrointestinal atresia (HP:0002589). Evidence: PCS. Frequency: 42/77. Onset: Congenital onset (HP:0003577). (PMID:15821734)