The most common symptoms of<unk>  are intestinal atresia, eye abnormalities and microcephaly. However, the syndrome has a wide range of severity that generally runs in the family it presents in, ranging from only mild learning disability and microcephaly with no other features in some families to death in utero with severe kidney, heart, eye, skeletal, brain and intestinal malformations in others. The variable severity is usually due to the presence or absence in each family of mutations in other genes with similar functions to CENPF. Intestinal Individuals with<unk>  are typically born with intestinal atresia, in which parts of the intestine are narrow or missing, leading to neonatal bowel obstruction that must be operated on. The intestinal atresia is of the "apple-peel" type, an uncommon type in which the remaining portion of the intestine is found twisted around its main artery, and this usually affects the jejunum. Often, much of the bowel is missing in this form of atresia. There can sometimes also be intestinal malrotation. At least two individuals with the syndrome in literature have avoided intestinal atresia, one of which had a sibling with the same mutations who did not. In two siblings who did not survive to term, the intestinal atresia (which also included duodenal atresia) and malrotation were more severe. Eyes The eyes are often smaller and underdeveloped, usually more severely in one eye than the other. This can manifest as a coloboma (hole) in the iris, cataracts, opacity of the cornea (leukoma), sclerocornea (in which the white of the eye blends into the cornea), a small cornea (microcornea) and synechia (in which the iris adheres to the cornea or lens). This underdevelopment of the front of the eye, known as anterior segment dysgenesis (which includes Peters' anomaly), can lead to an increased risk of glaucoma from high intraocular pressure, due to impaired eye fluid drainage, though this hadn't been reported in any of the affected individuals . There may also be crossing of the eyes (esotropia), and less commonly there may be twisted retinal blood vessels or optic nerve hypoplasia. The eye anomalies can result in an inability to focus (astigmatism) as well as amblyopia, in which the brain begins to fail to process input from the weaker eye during childhood. Neurological Those affected with the syndrome usually have microcephaly. A large minority also have pachygyria (fewer ridges in the brain) or lissencephaly (shallower ridges). Developmental delay is usually present. It has usually been moderate-to-severe, but in some cases it has been mild. A few of those affected have had increased muscle tone. One individual had cortical heterotopia, which is a sign of impaired neuronal cell migration during neural development. Agenesis or hypoplasia of the corpus callosum and cerebellum have been found in at least one living affected individual and several who did not survive to term. Hydrocephalus occurred in one living individual 9 months after birth and in four who did not survive to term. Hydrocephalus was also observed in zebrafish whose CENPF genes were experimentally knocked out. Cerebellar hypoplasia in association with hydrocephalus can constitute Dandy–Walker malformation, which is found in a number of other ciliopathies, sometimes together with agenesis of the corpus callosum. Physical features Physical features are variable but usually include short stature, large, low-set ears, a high nasal bridge, a small jaw and a large mouth. Some of those affected have had epicanthal folds or fine, sparse hair. One individual was reported to have been born with a skin tag on the left cheek. Four affected individuals who did not survive to term had cleft palate. Heart A minority of those affected have been born with an atrial septal defect, a type of congenital heart defect. One affected individual was reported to have a ventricular septal defect and neonatal peripheral oedema in the legs. Two individuals who did not survive to term had a patent foramen ovale, a specific type of atrial septal defect, as well as reduced heart muscle tissue (myocardium) and abnormally small heart muscle cells (cardiomyocytes). Skeletal One affected individual was reported to have had hip dysplasia, leading to dislocation, and another was reported to have metopic craniosynostosis, leading to a metopic ridge. Two individuals who did not survive to term had polydactyly of the thumb (preaxial polydactyly), flattened vertebrae (platyspondyly) and a rare chest wall malformation called a sternal cleft. Kidneys Two living individuals have been reported to have had underdeveloped and malformed kidneys. Although one was found to have normal kidneys on examination at birth, he later developed kidney failure in late adolescence and was found to have renal hypoplasia. Two siblings who did not survive to term had underdeveloped kidneys and ureters, leading to a build-up of urine called hydronephrosis. Blood One affected person was reported to have a reduced number of platelets (thrombocytopaenia) in infancy, requiring transfusion. Platelets are cellular fragments formed from protrusions on megakaryocytes that enable blood clotting. Blood symptoms have not yet been reported in any other affected individuals.
Strømme syndrome
Melkersson–Rosenthal syndrome
Helsmoortel-Van der Aa syndrome
Van Wyk and Grumbach syndrome
Sensenbrenner syndrome
Van der Woude syndrome
Nezelof syndrome
Senter syndrome