Phenotypes associated with the disease Fryns syndrome (OMIM:229850, an entry in Online Mendelian Inheritance in Man):
- Facial hirsutism (HP:0009937, a Human Phenotype Ontology term): Excess facial hair. Evidence: TAS. (OMIM:229850)
- Opacification of the corneal stroma (HP:0007759, a Human Phenotype Ontology term): Reduced transparency of the stroma of cornea. Evidence: IEA. (OMIM:229850)
- Tented upper lip vermilion (HP:0010804, a Human Phenotype Ontology term): Triangular appearance of the oral aperture with the apex in the midpoint of the upper vermilion and the lower vermilion forming the base. Evidence: TAS. (OMIM:229850)
- Prominent fingertip pads (HP:0001212, a Human Phenotype Ontology term): A soft tissue prominence of the ventral aspects of the fingertips. The term "persistent fetal fingertip pads" is often used as a synonym, but should better not be used because it implies knowledge of history of the patient which often does not exist. Evidence: IEA. (OMIM:229850)
- Anal atresia (HP:0002023, a Human Phenotype Ontology term): Congenital absence of the anus, i.e., the opening at the bottom end of the intestinal tract. Evidence: IEA. (OMIM:229850)
- Thoracic hypoplasia (HP:0005257, a Human Phenotype Ontology term). Evidence: IEA. (OMIM:229850)
- Seizure (HP:0001250, a Human Phenotype Ontology term): A seizure is an intermittent abnormality of nervous system physiology characterized by a transient occurrence of signs and/or symptoms due to abnormal excessive or synchronous neuronal activity in the brain. Evidence: IEA. (OMIM:229850)
- Coarse facial features (HP:0000280, a Human Phenotype Ontology term): Absence of fine and sharp appearance of brows, nose, lips, mouth, and chin, usually because of rounded and heavy features or thickened skin with or without thickening of subcutaneous and bony tissues. Evidence: IEA. (OMIM:229850)
- Hypertelorism (HP:0000316, a Human Phenotype Ontology term): Interpupillary distance more than 2 SD above the mean (alternatively, the appearance of an increased interpupillary distance or widely spaced eyes). Evidence: IEA. (OMIM:229850)
- Single transverse palmar crease (HP:0000954, a Human Phenotype Ontology term): The distal and proximal transverse palmar creases are merged into a single transverse palmar crease. Evidence: IEA. (OMIM:229850)
- Stillbirth (HP:0003826, a Human Phenotype Ontology term): Death of the fetus in utero after at least 22 weeks of gestation. Evidence: IEA. (OMIM:229850)
- Ectopic pancreatic tissue (HP:0006278, a Human Phenotype Ontology term): The presence of pancreatic tissue outside the normal pancreas, in many cases along the foregut and proximal midgut. Evidence: IEA. (OMIM:229850)
- Proximal placement of thumb (HP:0009623, a Human Phenotype Ontology term): Proximal mislocalization of the thumb. Evidence: IEA. (OMIM:229850)
- Arrhinencephaly (HP:0002139, a Human Phenotype Ontology term): A defect of development of the brain characterized by congenital absence of the part of the brain that includes the olfactory bulbs, tracts, and other structures associated with the sense of smell. Evidence: IEA. (OMIM:229850)
- Intellectual disability (HP:0001249, a Human Phenotype Ontology term): 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:229850)
- Cleft palate (HP:0000175, a Human Phenotype Ontology term): 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: IEA. (OMIM:229850)
- Esophageal atresia (HP:0002032, a Human Phenotype Ontology term): 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. (OMIM:229850)
- Chylothorax (HP:0010310, a Human Phenotype Ontology term): Accumulation of excessive amounts of lymphatic fluid (chyle) in the pleural cavity. Evidence: IEA. (OMIM:229850)
- Camptodactyly (HP:0012385, a Human Phenotype Ontology term): The distal interphalangeal joint and/or the proximal interphalangeal joint of the fingers or toes cannot be extended to 180 degrees by either active or passive extension. Evidence: TAS. (OMIM:229850)
- Autosomal recessive inheritance (HP:0000007, a Human Phenotype Ontology term): 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 individuals with two pathogenic alleles, either homozygotes (two copies of the same mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele). Evidence: IEA. (OMIM:229850)
- Microphthalmia (HP:0000568, a Human Phenotype Ontology term): A developmental anomaly characterized by abnormal smallness of one or both eyes. Evidence: IEA. (OMIM:229850)
- Hypoplasia of olfactory tract (HP:0007036, a Human Phenotype Ontology term). Evidence: IEA. (OMIM:229850)
- Omphalocele (HP:0001539, a Human Phenotype Ontology term): 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: IEA. (OMIM:229850)
- Bifid scrotum (HP:0000048, a Human Phenotype Ontology term): Midline indentation or cleft of the scrotum. Evidence: IEA. (OMIM:229850)
- Hypospadias (HP:0000047, a Human Phenotype Ontology term): 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: IEA. (OMIM:229850)
- Thin ribs (HP:0000883, a Human Phenotype Ontology term): Ribs with a reduced diameter. Evidence: IEA. (OMIM:229850)
- Short thumb (HP:0009778, a Human Phenotype Ontology term): Hypoplasia (congenital reduction in size) of the thumb. Evidence: IEA. (OMIM:229850)
- Cleft upper lip (HP:0000204, a Human Phenotype Ontology term): 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: IEA. (OMIM:229850)
- Low-set ears (HP:0000369, a Human Phenotype Ontology term): 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: TAS. (OMIM:229850)
- Hydronephrosis (HP:0000126, a Human Phenotype Ontology term): Severe distention of the kidney with dilation of the renal pelvis and calices. Evidence: IEA. (OMIM:229850)
- Broad ribs (HP:0000885, a Human Phenotype Ontology term): Increased width of ribs. Evidence: IEA. (OMIM:229850)
- Shawl scrotum (HP:0000049, a Human Phenotype Ontology term): Superior margin of the scrotum superior to the base of the penis. Evidence: TAS. (OMIM:229850)
- Meckel diverticulum (HP:0002245, a Human Phenotype Ontology term): Meckel's diverticulum is a congenital diverticulum located in the distal ileum. Evidence: IEA. (OMIM:229850)
- Small nail (HP:0001792, a Human Phenotype Ontology term): A nail that is diminished in length and width, i.e., underdeveloped nail. Evidence: IEA. (OMIM:229850)
- Long philtrum (HP:0000343, a Human Phenotype Ontology term): Distance between nasal base and midline upper lip vermilion border more than 2 SD above the mean. Alternatively, an apparently increased distance between nasal base and midline upper lip vermilion border. Evidence: IEA. (OMIM:229850)
- Pulmonary hypoplasia (HP:0002089, a Human Phenotype Ontology term). Evidence: IEA. (OMIM:229850)
- Anteverted nares (HP:0000463, a Human Phenotype Ontology term): 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:229850)
- Blepharophimosis (HP:0000581, a Human Phenotype Ontology term): A fixed reduction in the vertical distance between the upper and lower eyelids with short palpebral fissures. Evidence: IEA. (OMIM:229850)
- Agenesis of corpus callosum (HP:0001274, a Human Phenotype Ontology term): 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: IEA. (OMIM:229850)
- Abnormal helix morphology (HP:0011039, a Human Phenotype Ontology term): 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: IEA. (OMIM:229850)
- Ventricular septal defect (HP:0001629, a Human Phenotype Ontology term): 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: IEA. (OMIM:229850)
- Short distal phalanx of finger (HP:0009882, a Human Phenotype Ontology term): Short distance from the end of the finger to the most distal interphalangeal crease or the distal interphalangeal joint flexion point. That is, hypoplasia of one or more of the distal phalanx of finger. Evidence: IEA. (OMIM:229850)
- Dandy-Walker malformation (HP:0001305, a Human Phenotype Ontology term): A congenital brain malformation typically characterized by incomplete formation of the cerebellar vermis, dilation of the fourth ventricle, and enlargement of the posterior fossa. In layman's terms, Dandy Walker malformation is a cyst in the cerebellum (typically symmetrical) that is involved with the fourth ventricle. This may interfere with the ability to drain cerebrospinal fluid from the brain, resulting in hydrocephalus. Dandy Walker cysts are formed during early embryonic development, while the brain forms. The cyst in the cerebellum typically has several blood vessels running through it connecting to the brain, thereby prohibiting surgical removal. Evidence: IEA. (OMIM:229850)
- Bicornuate uterus (HP:0000813, a Human Phenotype Ontology term): The presence of a bicornuate uterus. Evidence: IEA. (OMIM:229850)
- Polysplenia (HP:0001748, a Human Phenotype Ontology term): Polysplenia is a congenital disease manifested by multiple small accessory spleens. Evidence: IEA. (OMIM:229850)
- Wide mouth (HP:0000154, a Human Phenotype Ontology term): Distance between the oral commissures more than 2 SD above the mean. Alternatively, an apparently increased width of the oral aperture (subjective). Evidence: IEA. (OMIM:229850)
- Polyhydramnios (HP:0001561, a Human Phenotype Ontology term): The presence of excess amniotic fluid in the uterus during pregnancy. Evidence: IEA. Frequency: 14%. (OMIM:229850)
- Wide nasal bridge (HP:0000431, a Human Phenotype Ontology term): Increased breadth of the nasal bridge (and with it, the nasal root). Evidence: IEA. (OMIM:229850)
- Broad neck (HP:0000475, a Human Phenotype Ontology term): Increased side-to-side width of the neck. Evidence: TAS. Frequency: 20/20. (OMIM:229850)
- Large for gestational age (HP:0001520, a Human Phenotype Ontology term): The term large for gestational age applies to babies whose birth weight lies above the 90th percentile for that gestational age. Evidence: IEA. (OMIM:229850)
- Ureteral duplication (HP:0000073, a Human Phenotype Ontology term): A developmental anomaly characterized by the presence of two, instead of one, ureter connecting a kidney to the bladder. Evidence: TAS. (OMIM:229850)
- Aganglionic megacolon (HP:0002251, a Human Phenotype Ontology term): 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. (OMIM:229850)
- Short neck (HP:0000470, a Human Phenotype Ontology term): Diminished length of the neck. Evidence: TAS. (OMIM:229850)
- Narrow palpebral fissure (HP:0045025, a Human Phenotype Ontology term): Reduction in the vertical distance between the upper and lower eyelids. Evidence: IEA. (OMIM:229850)
- Hypoplasia of the optic tract (HP:0007096, a Human Phenotype Ontology term). Evidence: IEA. (OMIM:229850)
- Rocker bottom foot (HP:0001838, a Human Phenotype Ontology term): The presence of both a prominent heel and a convex contour of the sole. Evidence: IEA. (OMIM:229850)
- Microretrognathia (HP:0000308, a Human Phenotype Ontology term): A form of developmental hypoplasia of the mandible in which the mandible is mislocalised posteriorly. Evidence: IEA. (OMIM:229850)
- Joint contracture of the hand (HP:0009473, a Human Phenotype Ontology term): Contractures of one ore more joints of the hands meaning chronic loss of joint motion due to structural changes in non-bony tissue. Evidence: IEA. (OMIM:229850)
- Aplasia of the left hemidiaphragm (HP:0009112, a Human Phenotype Ontology term): Congenital absence of the left half of the diaphragm. Evidence: IEA. (OMIM:229850)
- Renal cyst (HP:0000107, a Human Phenotype Ontology term): A fluid filled sac in the kidney. Evidence: IEA. (OMIM:229850)
- Atrial septal defect (HP:0001631, a Human Phenotype Ontology term): Atrial septal defect (ASD) is a congenital abnormality of the interatrial septum that enables blood flow between the left and right atria via the interatrial septum. Evidence: IEA. (OMIM:229850)
- Cryptorchidism (HP:0000028, a Human Phenotype Ontology term): 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: IEA. (OMIM:229850)
- Duodenal atresia (HP:0002247, a Human Phenotype Ontology term): A developmental defect resulting in complete obliteration of the duodenal lumen, that is, an abnormal closure of the duodenum. Evidence: IEA. (OMIM:229850)
- Intestinal malrotation (HP:0002566, a Human Phenotype Ontology term): An abnormality of the intestinal rotation and fixation that normally occurs during the development of the gut. This can lead to volvulus, or twisting of the intestine that causes obstruction and necrosis. Evidence: IEA. (OMIM:229850)
- Renal agenesis (HP:0000104, a Human Phenotype Ontology term): Agenesis, that is, failure of the kidney to develop during embryogenesis and development. Evidence: IEA. (OMIM:229850)
- Anonychia (HP:0001798, a Human Phenotype Ontology term): Aplasia of the nail. Evidence: IEA. (OMIM:229850)