Holoprosencephaly (HPE) is a cephalic disorder in which the prosencephalon fails to develop into two hemispheres, typically occurring between the 18th and 28th day of gestation. Normally, the forebrain is formed and the face begins to develop in the fifth and sixth weeks of human pregnancy. The condition also occurs in other species.
Cebocephaly is a developmental anomaly that is part of a group of defects called holoprosencephaly. Cebocephaly involves the presence of two separate eyes set close together and a small, flat nose with a single nostril. It may be diagnosed before or after birth. It has a very poor prognosis, with most affected infants dying soon after birth. It is very rare, having been estimated to affect around 1 in 40,000 deliveries.
Sonic hedgehog protein (SHH) is encoded for by the SHH gene. The protein is named after the video game character Sonic the Hedgehog.
Patau syndrome is a syndrome caused by a chromosomal abnormality, in which some or all of the cells of the body contain extra genetic material from chromosome 13. The extra genetic material disrupts normal development, causing multiple and complex organ defects.
Hitotsume-kozō (一つ目小僧) are a Yōkai of Japan that take on the appearance of a bald-headed child with one eye in the center of its forehead similar to a cyclops.
Congenital syphilis is syphilis that occurs when a mother with untreated syphilis passes the infection to her baby during pregnancy or at birth. It may present in the fetus, infant, or later. Clinical features vary and differ between early onset, that is presentation before 2-years of age, and late onset, presentation after age 2-years. Infection in the unborn baby may present as poor growth, non-immune hydrops leading to premature birth or loss of the baby, or no signs. Affected newborns mostly initially have no clinical signs. They may be small and irritable. Characteristic features include a rash, fever, large liver and spleen, a runny and congested nose, and inflammation around bone or cartilage. There may be jaundice, large glands, pneumonia, meningitis, warty bumps on genitals, deafness or blindness. Untreated babies that survive the early phase may develop skeletal deformities including deformity of the nose, lower legs, forehead, collar bone, jaw, and cheek bone. There may be a perforated or high arched palate, and recurrent joint disease. Other late signs include linear perioral tears, intellectual disability, hydrocephalus, and juvenile general paresis. Seizures and cranial nerve palsies may first occur in both early and late phases. Eighth nerve palsy, interstitial keratitis and small notched teeth may appear individually or together; known as Hutchinson's triad.
Pregnancy is the time during which one or more offspring develops (gestates) inside a woman's uterus (womb). A multiple pregnancy involves more than one offspring, such as with twins.
Diprosopus, also known as craniofacial duplication, is an extremely rare congenital disorder whereby parts (accessories) or all of the face are duplicated on the head.
Otocephaly, also known as agnathia–otocephaly complex, is a very rare and lethal cephalic disorder characterized by the absence of the mandible (agnathia), with the ears fused together just below the chin (synotia). It is caused by a disruption to the development of the first branchial arch. It occurs in every 1 in 70,000 embryos.
Cyclopamine (11-deoxojervine) is a naturally occurring steroidal alkaloid. It is a teratogenic component of corn lily, which when consumed during gestation has been demonstrated to induce birth defects, including the development of a single eye (cyclopia) in offspring. The molecule was named after this effect, which was originally observed by Idaho lamb farmers in 1957 after their herds gave birth to cycloptic lambs. It then took more than a decade to identify corn lily as the culprit. Later work suggested that differing rain patterns had changed grazing behaviours, which led to a greater quantity of corn lily to be ingested by pregnant sheep. Cyclopamine interrupts the sonic hedgehog signalling pathway, instrumental in early development, ultimately causing birth defects.
The Hedgehog signaling pathway is a signaling pathway that transmits information to embryonic cells required for proper cell differentiation. Different parts of the embryo have different concentrations of hedgehog signaling proteins. The pathway also has roles in the adult. Diseases associated with the malfunction of this pathway include cancer.
Arrhinia is the congenital partial or complete absence of the nose at birth. It is an extremely rare condition, with few reported cases in the history of modern medicine. It is generally classified as a craniofacial abnormality.
Anophthalmia is the medical term for the absence of one or both eyes. Both the globe and the ocular tissue are missing from the orbit. The absence of the eye will cause a small bony orbit, a constricted mucosal socket, short eyelids, reduced palpebral fissure and malar prominence. Genetic mutations, chromosomal abnormalities, and prenatal environment can all cause anophthalmia. Anophthalmia is an extremely rare disease and is mostly rooted in genetic abnormalities. It can also be associated with other syndromes.
Veratrum nigrum, the black false hellebore, is a widespread Eurasian species of perennial flowering plant in the family Melanthiaceae. Despite its common name, V. nigrum is not closely related to the true hellebores, nor does it resemble them.
Veratrum californicum is an extremely poisonous plant native to western North America, including the Sierra Nevada and Rocky Mountains, as far north as Washington and as far south as Durango; depending on latitude, it grows from near sea level to as high as 11,000 feet. It grows 1 to 2 meters tall, with an erect, unbranched, heavily leafy stem resembling a cornstalk. It prefers quite moist soil, and can cover large areas in dense stands near streams or in wet meadows. Many inch-wide flowers cluster along the often-branched top of the stout stem; they have 6 white tepals, a green center, 6 stamens, and a 3-branched pistil. The buds are tight green spheres. The heavily veined, bright green leaves can be more than a foot long.
Acrania is a rare congenital disorder that occurs in the human fetus in which the flat bones in the cranial vault are either completely or partially absent. The cerebral hemispheres develop completely but abnormally. The condition is frequently, though not always, associated with anencephaly. The fetus is said to have acrania if it meets the following criteria: the fetus should have a perfectly normal facial bone, a normal cervical column but without the fetal skull and a volume of brain tissue equivalent to at least one-third of the normal brain size.
A fetus or foetus is the unborn offspring that develops from a mammal embryo. Following embryonic development, the fetal stage of development takes place. In human prenatal development, fetal development begins from the ninth week after fertilization and continues until the birth of a newborn. Prenatal development is a continuum, with no clear defining feature distinguishing an embryo from a fetus. However, a fetus is characterized by the presence of all the major body organs, though they will not yet be fully developed and functional and some not yet situated in their final anatomical location.
In teratology, a proboscis is a blind-ended, tube-like structure, commonly located in the middle of the face. It is commonly seen in severe forms of holoprosencephaly that include cyclopia and is usually the result of abnormal development of the nose.
Young–Madders syndrome, alternatively known as Pseudotrisomy 13 syndrome or holoprosencephaly–polydactyly syndrome, is a genetic disorder resulting from defective and duplicated chromosomes which result in holoprosencephaly, polydactyly, facial malformations and intellectual disability, with a significant variance in the severity of symptoms being seen across known cases. Many cases often suffer with several other genetic disorders, and some have presented with hypoplasia, cleft lip, cardiac lesions and other heart defects. In one case in 1991 and another in 2000 the condition was found in siblings who were the product of incest. Many cases are diagnosed prenatally and often in siblings. Cases are almost fatal in the prenatal stage with babies being stillborn.
The Hedgehog, the Merchant, the King and the Poor Man is a Hungarian fairy tale collected by László Merényi and translated by folklorist Jeremiah Curtin.
