Nager's Syndrome is an extremely rare congenital defect that has only had 75 documented cases to date (11/17/1999). With several or all of the following characteristics: underdevelopment of the cheek and jaw area, down-sloping of the opening of the eyes, lack or absence of the lower eyelashes, lack of development of the internal and external ear, possible cleft palate, underdevelopment or absence of the thumb, and shortened forearms, as well as poor movement in the elbow. ...more on Wikipedia about "Nager's Syndrome"
An omphalocele is a type of abdominal wall defect in which the intestines, liver, and occasionally other organs remain outside of the abdomen in a sac because of a defect in the development of the muscles of the abdominal wall. The sac protrudes in the midline, through the umbilicus (navel). ...more on Wikipedia about "Omphalocele"
Otocephaly is a type of Cephalic disorder. This is a lethal condition in which the primary feature is agnathia - a developmental anomaly characterized by total or virtual absence of the lower jaw. The condition is considered lethal because of a poorly functioning airway. In otocephaly, agnathia may occur alone or together with holoprosencephaly. ...more on Wikipedia about "Otocephaly"
is a type of Cephalic disorder. This is a term sometimes used to describe the premature closure of the coronal suture plus any other suture, or it may be used to describe the premature fusing of all sutures. Oxycephaly is the most severe of the craniostenoses. ...more on Wikipedia about "Oxycephaly"
Pancreas divisum is a congenital defect in which parts of the pancreas to fail to fuse together. It is the most common congenital anomaly of the pancreas. In many cases it goes undetected and causes no problems. However it can result in recurrent pancreatitis in a small number of patients. ...more on Wikipedia about "Pancreas divisum"
Phocomelia (from Greek seal-limbs) is a congenital disorder that presents at birth as very short or absent long bones and flipper-like appearance of hands and feet that can occur as congenital abnormalities. The condition is occasionally inherited, but is most frequently connected with pre-natal exposure to the anti-nausea drug thalidomide. Amphibian deformities often take the form of phocomelia, in which the limbs are shortened due to lack or malformation of long bones, as opposed to amelia, which is characterized by the complete lack of a limb, or polymelia, the presence of extra limbs, which are often fused together. An individual exhibiting phocomelia may be referred to as a phocomelus. ...more on Wikipedia about "Phocomelia"
Plagiocephaly is a type of Cephalic disorder. Plagiocephaly is a condition characterized by an asymmetrical distortion (flattening of one side) of the skull. It is a common finding at birth and may be the result of a restrictive intrauterine environment, .If there is premature union of skull bones, this is more properly called synostosis. The unusual head shape in plagiocephaly is caused by pressure in the womb giving a "diamond" shaped head when seen from above. In pronounced cases there may be flattening of one side of the chest as well. As the child 's head grows rapidly after birth , this visible inequality nearly always gets much less marked as the first year progresses ...more on Wikipedia about "Plagiocephaly"
(Porencephaly) is a type of Cephalic disorder. This is an extremely rare disorder of the central nervous system involving a cyst or cavity in a cerebral hemisphere. The cysts or cavities are usually the remnants of destructive lesions, but are sometimes the result of abnormal development. The disorder can occur before or after birth. ...more on Wikipedia about "Porencephaly"
Potter syndrome is a congenital birth defect and is also known as Potter's Syndrome, Potter's Sequence or Oligohydramnios Sequence. Specifically, Potter Syndrome is a term used to describe the typical physical appearances of a fetus or neonate due to a dramatically decreased amniotic fluid volume oligohydramnios, or absent amniotic fluid anhydramnios, secondary to renal diseases such as bilateral renal agenesis (BRA). Other causes of Potter Syndrome can be obstruction of the urinary tract, polycystic or multicystic kidney diseases, renal hypoplasia and rupture of the amniotic sac. The term Potter Syndrome was initially intended to only refer to cases of BRA, however, it has been mistakenly used by many clinicians and researchers to refer to any case that presents with oligohydramnios or anhydramnios regardless of the source of the loss of amniotic fluid. ...more on Wikipedia about "Potter syndrome"
Proteus Syndrome (PS) is a congenital disorder that causes skin overgrowth and atypical bone development, often accompanied by tumors on over half the body. Proteus Syndrome is extremely rare. Since Dr. Michael Cohen identified it in 1979, only a few more than 100 cases have been confirmed worldwide. There may be many more than this, but those individuals correctly diagnosed usually have the most obvious manifestations of Proteus syndrome, leaving them severely disfigured. ...more on Wikipedia about "Proteus syndrome"
Proximal femoral focal deficiency (PFFD) is a rare, non-hereditary birth defect that affects the pelvis, particularly the hip bone, and the proximal femur. The disorder may affect one side or both, with the hip being deformed and the leg shortened. ...more on Wikipedia about "Proximal femoral focal deficiency"
Prune belly syndrome is a rare birth defect affecting about 1 in 40,000 births. About 96% of those affected are male. Prune belly syndrome is a congenital disorder of the urinary system, characterized by a triad of symptoms. The syndrome is named for the mass of wrinkled skin that is often (but not always) present on the abdomens of those with the disorder. Other names for the syndrome include Abdominal Muscle Deficiency Syndrome, Congenital Absence of the Abdominal Muscles, Eagle-Barrett Syndrome, and Obrinsky Syndrome. ...more on Wikipedia about "Prune belly syndrome"
Pseudovaginal perineoscrotal hypospadias (PPSH) refers to a configuration of the external genitalia of an infant. In a sense, this configuration is roughly midway between normal male genitalia and normal female genitalia in structure and appearance. It is a relatively common form of genital ambiguity caused by under virilization of genetic males due to several different intersex conditions. ...more on Wikipedia about "Pseudovaginal perineoscrotal hypospadias"
Sacral agenesis (or hypoplasia of the sacrum) is a little known and rather infrequent congenital condition of spinal deformity affecting the sacrum - the caudal partion of the spine. It occurs at a rate of approximately 1 of 25,000 live births. ...more on Wikipedia about "Sacral agenesis"
Saethre-Chotzen syndrome, also known as acrocephalosyndactyly type 3 (ACS III) and Chotzen syndrome is a very rare congenital syndrome characterised by craniosynostosis (premature closure of one or more of the sutures between the bones of the skull). It is an autosomal dominant disorder with the error being in the TWIST transcription factor. ...more on Wikipedia about "Saethre-Chotzen syndrome"
Scaphocephaly is a type of Cephalic disorder. This occurs when there is premature fusion of the sagittal suture. The sagittal suture joins together the two parietal bones of skull. Scaphocephaly is the most common of the craniostenoses and is characterized by a long, narrow head. ...more on Wikipedia about "Scaphocephaly"
is a type of Cephalic disorder. This is a rare developmental disorder characterized by abnormal slits, or clefts, in the cerebral hemispheres. Schizencephaly is a form of porencephaly. Individuals with clefts in both hemispheres, or bilateral clefts, are often developmentally delayed and have delayed speech and language skills and corticospinal dysfunction. Individuals with smaller, unilateral clefts (clefts in one hemisphere) may be weak on one side of the body and may have average or near-average intelligence. Patients with schizencephaly may also have varying degrees of microcephaly, mental retardation, hemiparesis (weakness or paralysis affecting one side of the body), or quadriparesis (weakness or paralysis affecting all four extremities), and may have reduced muscle tone (hypotonia). Most patients have seizures and some may have hydrocephalus. ...more on Wikipedia about "Schizencephaly"
Septo-optic dysplasia (SOD) is a congenital malformation syndrome manifested by hypoplasia (underdevelopment) of the optic nerve, hypopituitarism, and absence of the septum pellucidum (a midline part of the brain). In a severe case, this results in pituitary hormone deficiencies, blindness, and mental retardation. However, there are milder degrees of each of the three problems, and some children only have one or two of the three. ...more on Wikipedia about "Septo-optic dysplasia"
Sirenomelia or "Mermaid Syndrome" is a very rare disorder in which the legs are fused together, giving the appearance of a mermaid. This condition is found in approximately one out of every 100,000 live births (about as rare as conjoined twins) and is usually fatal within a day or two of birth because of complications associated with abnormal kidney and bladder development and function. It results from a failure of normal vascular supply from the lower aorta in utero. ...more on Wikipedia about "Sirenomelia"
Spina bifida is a Latin term which means "split spine" and describes birth defects caused by an incomplete closure of one or more vertebral arches of the spine, resulting in malformations of the spinal cord. The spinal membranes and spinal cord may protrude through the absence of vertebral arches (called clefts). These malformations fall into three categories: spina bifida occulta, spina bifida cystica (myelomeningocele) and meningocele. ...more on Wikipedia about "Spina bifida"
Tay syndrome is a recessive hereditary disease characterised by trichothiodystrophy (sulfur-deficient brittle hair) with photosensitivity, ichthyosiform erythroderma, dystrophic (abnormal) finger and toe-nails, progeria-like facies (prematurely aged looking face), growth and mental retardation, infertility and variable other defects. ...more on Wikipedia about "Tay syndrome"
A thyroglossal cyst is a fibrous cyst that forms from a persistent thyroglossal duct. It usually presents as a painful midline neck lump when it becomes infected. There may be dyspepsia or dysphagia and/or difficulty breathing, especially if the lump becomes large. ...more on Wikipedia about "Thyroglossal cyst"
Trigonocephaly is a type of Cephalic disorder. This is the premature fusion of the metopic suture (part of the frontal suture which joins the two halves of the frontal bone of the skull) in which a V-shaped abnormality occurs at the front of the skull. It is characterized by the triangular prominence of the forehead and closely set eyes. Genetic testing may be offered to determine the cause and recurrence risk. Reconstructive plastic surgery can greatly reduce the visual effects of trigonocephaly. ...more on Wikipedia about "Trigonocephaly"
Virchow-Seckel syndrome (also known as bird-headed dwarfism or Seckel dwarfism) is a syndrome of unknown etiology, characterized by intrauterine growth retardation and postnatal dwarfism with a small head, narrow birdlike face with a beaklike nose, large eyes with an antimongoloid slant, receding mandible, and mild mental retardation. ...more on Wikipedia about "Virchow-Seckel syndrome"
Wooly hair syndrome is a rare condition affecting a small percentage of persons of Caucasian and Asian heritage. It is characterized by extremely frizzy and wiry hair that looks almost wooly in appearance. ...more on Wikipedia about "Wooly hair syndrome"
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