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.
Weaning is the process of gradually introducing an infant human or other mammal to what will be its adult diet while withdrawing the supply of its mother's milk. In the UK, weaning primarily refers to the introduction of solid foods at 6 months; in the US, it primarily refers to stopping breastfeeding.
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.
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.
A vestigial twin is a form of parasitic twinning, where the parasitic "twin" is so malformed and incomplete that it typically consists entirely of extra limbs or organs. It also can be a complete living being trapped inside the host person, however the parasitic twin is anencephalic and lacks consciousness.
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.
Philip Arden Beachy is Ernest and Amelia Gallo Professor at Stanford University School of Medicine. Beachy isolated the Hedgehog gene in flies, discovered how it is processed and released from cells, and identified its signaling mechanism in target cells.
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.
A Child Is Born is a 1965 photographic book by Swedish photojournalist Lennart Nilsson. The book consists of photographs charting the development of the human embryo and fetus from conception to birth; it is reportedly the best-selling illustrated book ever published. Nilsson's photographs are accompanied by text, written by doctors, describing prenatal development and offering advice on antenatal care. The images were among the first of developing fetuses to reach a wide popular audience. Their reproduction in the April 30, 1965, edition of Life magazine sparked so much interest that the entire print run of eight million copies sold out within four days; they won Nilsson the American National Press Association Picture of the Year award, and reached a sufficiently iconic status to be chosen for launch into space aboard the NASA probes Voyager 1 and Voyager 2. The book and its images have figured in debates about abortion and the beginning of life, and the book is the subject of a substantial body of feminist critique.
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.
Epignathus is a rare teratoma of the oropharynx. Epignathus is a form of oropharyngeal teratoma that arises from the palate and, in most cases, results in death. The pathology is thought to be due to unorganized and uncontrolled differentiation of somatic cells leading to formation of the teratoma; sometimes it is also referred to as fetus in fetu, which is an extremely rare occurrence of an incomplete but parasitic fetus located in the body of its twin. This tumor is considered benign (non-cancerous) but life-threatening because of its atypical features and high risk of airway obstruction, which is the cause of death in 80-100% of the cases at the time of delivery.
Morse–Rawnsley–Sargent syndrome is an extraordinarily rare and deadly congenital malformation syndrome which affects the central nervous system during embryogenesis. It occurs before conception.
