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Flat Forehead
Flat forehead is a dysmorphic feature in which the surface of the forehead is unusually flat. Conditions Flat forehead is seen in the following conditions and syndromes: * Baller–Gerold syndrome * Cataract–growth hormone deficiency–sensory neuropathy–sensorineural hearing loss–skeletal dysplasia syndrome * COG7 congenital disorder of glycosylation * Craniosynostosis and dental anomalies * Ehlers–Danlos syndrome, musculocontractural type * Ehlers–Danlos syndrome, spondylodysplastic type, 1 * Intellectual developmental disorder 59 * Saethre–Chotzen syndrome * Temple–Baraitser syndrome * Worth disease See also * Artificial cranial deformation Artificial cranial deformation or modification, head flattening, or head binding is a form of body alteration in which the skull of a human being is deformed intentionally. It is done by distorting the normal growth of a child's skull by apply ... References {{reflist Anatomical pathology Face Body shape ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Oxycephaly
Turricephaly is a type of cephalic disorder where the head appears tall with a small length and width. It is due to premature closure of the coronal suture plus any other Suture (anatomy), suture, like the Lambdoid suture, lambdoid, or it may be used to describe the premature fusion of all sutures. It should be differentiated from Crouzon syndrome. Oxycephaly (or acrocephaly) is a form of turricephaly where the head is cone-shaped, and is the most severe of the Craniosynostosis, craniosynostoses. Presentation Common associations It may be associated with: * Vestibulocochlear nerve#Symptoms of damage, 8th cranial nerve lesion * Optic nerve compression * Intellectual disability * Syndactyly Conditions with turricephaly Conditions with turricephaly include: * Achondrogenesis, type IA * Elejalde syndrome, Acrocephalopolydactyly * Carpenter syndrome, Acrocephalosyndactyly type V (Goodman syndrome) * Acrocraniofacial dysostosis * Alopecia - contractures - dwarfism - intellectual disabili ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Craniosynostosis And Dental Anomalies
Craniosynostosis and dental anomalies (CRSDA, also known as Kreiborg-Pakistani syndrome) is an autosomal recessive syndrome characterized by craniosynostosis, maxillary hypoplasia, and dental anomalies. Dental anomalies seen in this condition include malocclusion, delayed and ectopic tooth eruption, and/or supernumerary teeth. Syndactyly, clinodactyly, and other digit anomalies may also be present. Signs and symptoms Features of this condition include, by area affected: * Head or neck: convex nasal ridge, delayed tooth eruption, dental crowding, dental malocclusion, depressed nasal bridge, downslanted palpebral fissures, flat forehead, high forehead, high palate, mandibular prognathia, midface retrusion, narrow palate, sloping forehead, supernumerary teeth, and wide nose * Limbs: two or three-toe syndactyly, broad hallux, clinodactyly, hallux valgus, short phalanx of finger * Eyes: hypertelorism, pailledema, proptosis * Immune system: chronic otitis media * Integument: fingerna ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Anatomical Pathology
Anatomical pathology (''Commonwealth'') or anatomic pathology (''U.S.'') is a medical specialty that is concerned with the diagnosis of disease based on the macroscopic, microscopic, biochemical, immunologic and molecular examination of organs and tissues. Over the 20th century, surgical pathology has evolved tremendously: from historical examination of whole bodies (autopsy) to a more modernized practice, centered on the diagnosis and prognosis of cancer to guide treatment decision-making in oncology. Its modern founder was the Italian scientist Giovanni Battista Morgagni from Forlì. Anatomical pathology is one of two branches of pathology, the other being clinical pathology, the diagnosis of disease through the laboratory analysis of bodily fluids or tissues. Often, pathologists practice both anatomical and clinical pathology, a combination known as general pathology. Similar specialties exist in veterinary pathology. Differences with clinical pathology Anatom ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Artificial Cranial Deformation
Artificial cranial deformation or modification, head flattening, or head binding is a form of body alteration in which the skull of a human being is deformed intentionally. It is done by distorting the normal growth of a child's skull by applying pressure. Flat shapes, elongated ones (produced by binding between two pieces of wood), rounded ones (binding in cloth), and conical ones are among those chosen or valued in various cultures. Typically, the alteration is carried out on an infant, when the skull is most pliable. In a typical case, head binding begins approximately a month after birth and continues for about six months. History Intentional cranial deformation predates written history; it was practiced commonly in a number of cultures that are widely separated geographically and chronologically, and still occurs today in a few areas, including Vanuatu. The earliest suggested examples were once thought to include Neanderthals and the Proto-Neolithic ''Homo sapiens'' c ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Worth Syndrome
Worth syndrome, also known as benign form of Worth hyperostosis corticalis generalisata with torus platinus, autosomal dominant osteosclerosis, autosomal dominant endosteal hyperostosis or Worth disease, is a rare autosomal dominant congenital disorder that is caused by a mutation in the LRP5 gene. It is characterized by increased bone density and benign bony structures on the palate. Causes Worth syndrome is caused by a mutation in the LRP5 gene, located on human chromosome 11q13.4. The disorder is inherited in an autosomal dominant fashion. This indicates that the defective gene responsible for a disorder is located on an autosome (chromosome 11 is an autosome), and only one copy of the defective gene is sufficient to cause the disorder, when inherited from a parent who has the disorder. Diagnosis Treatment History The condition was first reported by H. M. Worth in 1966. In 1977, two doctors, R.J. Gorlin and L. Glass, distinguished the syndrome from van Buchem disease. ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Temple–Baraitser Syndrome
Temple–Baraitser syndrome (TBS) is a very rare autosomal dominant genetic disorder, characterised by intellectual disability, epilepsy, small or absent nail of the thumbs and great toes, and distinct craniofacial features. Genetics TBS is caused by pathogenic variants (mutations) in the ''KCNH1'' gene at chromosomal locus 1q32.2, (GRCh38): 1:210,678,313-211,134,147. It has an autosomal dominant transmission, however affected individuals are not known to reproduce, so all reported cases have been caused by ''de novo'' mutations or transmission from a mosaic parent. Diagnosis Temple–Baraitser syndrome is diagnosed by clinical examination of a person with a severe developmental disability, intellectual impairment and epilepsy. The face is often long and myopathic. Overgrown gums become apparent in late childhood. The finger and toenails are characteristically small, with complete or almost complete absence of the nails of the thumb (pollex) and great toe (hallux). The di ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Saethre–Chotzen Syndrome
Saethre–Chotzen syndrome (SCS), also known as acrocephalosyndactyly type III, is a rare congenital disorder associated with craniosynostosis (premature closure of one or more of the sutures between the bones of the Human skull, skull). This affects the shape of the head and face, resulting in a cone-shaped head and an asymmetrical face. Individuals with SCS also have droopy eyelids (Ptosis (eyelid), ptosis), widely spaced eyes (hypertelorism), and minor abnormalities of the hands and feet (syndactyly). Individuals with more severe cases of SCS may have mild to moderate intellectual or learning disabilities. Depending on the level of severity, some individuals with SCS may require some form of medical or surgical intervention. Most individuals with SCS live fairly normal lives, regardless of whether medical treatment is needed or not. Signs and symptoms SCS presents in a variable fashion. The majority of individuals with SCS are moderately affected, with uneven facial features and ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Intellectual Disability
Intellectual disability (ID), also known as general learning disability (in the United Kingdom), and formerly mental retardation (in the United States), Rosa's Law, Pub. L. 111-256124 Stat. 2643(2010).Archive is a generalized neurodevelopmental disorder characterized by significant impairment in intellectual and adaptive functioning that is first apparent during childhood. Children with intellectual disabilities typically have an intelligence quotient (IQ) below 70 and deficits in at least two adaptive behaviors that affect everyday living. According to the DSM-5, intellectual functions include reasoning, problem solving, planning, abstract thinking, judgment, academic learning, and learning from experience. Deficits in these functions must be confirmed by clinical evaluation and individualized standard IQ testing. On the other hand, adaptive behaviors include the social, developmental, and practical skills people learn to perform tasks in their everyday lives. Deficits in ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Congenital Disorder Of Glycosylation
A congenital disorder of glycosylation (previously called carbohydrate-deficient glycoprotein syndrome) is one of several rare inborn errors of metabolism in which glycosylation of a variety of tissue proteins and/or lipids is deficient or defective. Congenital disorders of glycosylation are sometimes known as CDG syndromes. They often cause serious, sometimes fatal, malfunction of several different organ systems (especially the nervous system, muscles, and intestines) in affected infants. The most common sub-type is PMM2-CDG (formerly known as CDG-Ia) where the genetic defect leads to the loss of phosphomannomutase 2 ( PMM2), the enzyme responsible for the conversion of mannose-6-phosphate into mannose-1-phosphate. Presentation Clinical features depend on the molecular pathology of the particular CDG subtype. Common manifestations include |
Dysmorphic Feature
A dysmorphic feature is an abnormal difference in body structure. It can be an isolated finding in an otherwise normal individual, or it can be related to a congenital disorder, genetic syndrome or birth defect. Dysmorphology is the study of dysmorphic features, their origins and proper nomenclature. One of the key challenges in identifying and describing dysmorphic features is the use and understanding of specific terms between different individuals. Clinical geneticists and pediatricians are usually those most closely involved with the identification and description of dysmorphic features, as most are apparent during childhood. Dysmorphic features can vary from isolated, mild anomalies such as clinodactyly or synophrys to severe congenital anomalies, such as heart defects and holoprosencephaly. In some cases, dysmorphic features are part of a larger clinical picture, sometimes known as a sequence, syndrome or association. Recognizing the patterns of dysmorphic features is an i ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
COG7
Conserved oligomeric Golgi complex subunit 7 is a protein that in humans is encoded by the ''COG7'' gene. Multiprotein complexes are key determinants of Golgi apparatus structure and its capacity for intracellular transport and glycoprotein modification. Several complexes have been identified, including the Golgi transport complex (GTC), the LDLC complex, which is involved in glycosylation reactions, and the SEC34 complex, which is involved in vesicular transport. These 3 complexes are identical and have been termed the conserved oligomeric Golgi (COG) complex, which includes COG7 (Ungar et al., 2002). upplied by OMIMref name="entrez"/> Interactions COG7 has been shown to interact Advocates for Informed Choice, dba interACT or interACT Advocates for Intersex Youth, is a 501(c)(3) nonprofit organization advocating for the legal and human rights of children with intersex traits. The organization was founded in 2006 and fo ... with COG4 and COG5. References Further read ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
