Aarskog syndrome is thought to be a rare condition. A collection of disease information resources and questions answered by our. Aarskog syndrome is a rare genetic condition characterized by short stature and. Aarskog syndrome parents support group nord national. In males who have only one x chromosome, one altered copy of the gene in each cell is sufficient to cause the condition. Aarskog syndrome is one of the most clinically distinctive phenotypes among the hereditary syndromes. The disorder is identified by stunted growth along with facial, genital and skeletal abnormalities.
The gene associated with this condition is located on the x chromosome, which is one of the two sex chromosomes. Aarskog syndrome is a genetic disorder that is linked to the x chromosome. Aarskogscott syndrome aas is a rare developmental disorder which primarily affects males and has a relative prevalence of 1. Aarskog syndrome article about aarskog syndrome by the. Females who carry one altered copy of the fgd1 gene may show signs such as hypertelorism widely spaced eyes, short stature, or a widows peak hairline. Facial features may include a round face with hypertelorism, ophthalmoplegia, large cornea, hyperopic astigmatism, antimongoloid obliquity of.
The xlinked condition aarskogscott syndrome aas causes a characteristic combination of short stature, facial, genital and skeletal. Faciogenital dysplasia or aarskogscott syndrome aas is a genetically heterogeneous developmental disorder. Aarskogscott syndrome, also known as faciogenital dysplasia, is an xlinked disorder characterized by short stature, hypertelorism, shawl scrotum, and brachydactyly, although there is wide phenotypic variability and other features, such as joint hyperextensibility, short nose, widows peak, and inguinal hernia, may also occur. The facialdigitalgenital aarskog syndrome has been reported in affected males of several families. Results iq ranged from 68 to 128 and followed a normal distribution. A diagnosis of aarskog syndrome is made based on the the patients symptoms, medical history and a full physical examination based on the characteristic facial features present in the syndrome round face, hypertelorism, antimongoloid slant of palpebral. Aarskogscott syndrome aas is characterized by short stature, and facial, limb, and genital anomalies. Inherited means that it is passed down through families. This signs and symptoms information for aarskog syndrome has been gathered from various sources, may not be fully accurate, and may not be the full list of aarskog syndrome signs or aarskog syndrome symptoms.
The exact number of people with aarskog syndrome is unknown but thought to be around 125,000. Slideshow pink eye conjunctivitis symptoms, causes, treatments see slideshow. Aarskog syndromedefinitionaarskog syndrome is an inherited disorder that causes a distinctive appearance of the face, skeleton, hands and feet, and genitals. Syndrome is a genetic abnormality and the condition cannot be cured by optimal way. The aarskog foundation, tobermory, argyll and bute. Syndrome pop culture when innocent heroworship goes unrequited, the consequences can be dire for both the admirer and the admired. Manifestations in the facial morphology, skeleton, and genitalia form a. Aarskog syndrome is caused by a faulty gene that causes certain parts of the body to grow the wrong way. In females who have two x chromosomes, a mutation would have. A novel, putatively null, fgd1 variant leading to aarskogscott. A syndrome of wide spaced eyes ocular hypertelorism, frontfacing anteverted nostrils, a broad upper lip, a malformed saddlebag scrotum, and laxity of the ligaments resulting in bending back of the knees genu recurvatum, flat feet, and overly extensible fingers. Although ophthalmic manifestations are noted rarely, findings may include optic nerve hypoplasia, retinal vessel tortuosity. P282 scott aarskog syndrome and rare milder mental.
Syndrome of the month aarskog syndrome journal of medical. In this report a description is given of the aarskog syndrome in six males belonging to three different families. People with aarskogscott syndrome often have distinctive facial features, such as widely spaced eyes hypertelorism, a small nose, a long area between the nose and mouth philtrum, and a. The treatment of aarskog syndrome is directed toward the specific symptoms. A patient had several unusual findings that, to our knowledge, have not previously been reported in the aarskog syndrome faciodigitalgenital syndrome. Aarskog syndrome genetic and rare diseases information center. Hello fellow wikipedians, i have just modified 3 external links on aarskogscott syndrome. It is difficult to predict prevalence because people with mild symptoms and their doctors may not know they have aarskog syndrome. A mexicanamerican family in which two half brothers and their two maternal uncles are affected with the facialdigitalgenital aarskog syndrome is described. The aarskog syndrome parents support group aspsg is a nonprofit, selfhelp organization dedicated to providing information and support to parents of children with aarskog syndrome. We report on a chinese family in whom several members have manifestations of aas, but differ in limb anomalies and show additional. Aim to test the hypothesis that overall intelligence quotient iq is decreased in patients with aarskog syndrome.
Most patients do not have mental retardation, but some may have. Aarskog syndrome genetic and rare diseases information. On the basis of published pedigrees, the data strongly support an xlinked recessive mode of inheritance. A mutation of the fgd1 gene, otherwise known as the faciogenital dysplasia 1 gene, is the cause of this syndrome.
Please use one of the following formats to cite this article in your essay, paper or report. Aarskog syndrome or aarskogscott syndrome also known as the faciodigitogenital syndrome is a rare anomaly characterized by short stature in association with a variety of structural anomalies involving mainly the face, distal extremities, and external genitalia. Le syndrome daarskog est une affection genetique heritee rare qui affecte le squelette, les organes genitaux, les. Aarskog syndrome facialdigitalgenital syndrome is an xlinked inherited disorder that causes multiple limb and genital abnormalities. Aims the aim of this paper is to describe an extremely rare syndrome especially with mild mental retardation. This is a rare genetic disorder characterized by distinctive facial abnormalities, unusually small hands, genital abnormalities, short stature, mild mental. The aarskog syndrome or faciogenital dysplasia fgdy, mim no.
Phenotypic and molecular characterisation of the aarskogscott. We are the worlds largest international parent led, patient charity for the xlinked rare disease aarskog syndrome. Pdf aarskog syndrome also known as aarskogscott syndrome,faciodigito genital syndrome or faciogenital. Gtr test id help each test is a specific, orderable test from a particular laboratory, and is assigned a unique gtr accession number. There are xlinked and autosomal forms of the disease. However, mild forms of the disorder do exist and may go unrecognized. Aarskogscott syndrome is an inherited illness that primarily affects males. Aarskogscott syndrome is a genetic disorder that affects the development of many parts of the body. Phenotypic and molecular characterisation of the aarskog. Aarskog syndrome is inherited in an xlinked recessive pattern. Growth retardation usually becomes evident at age 2 to 4 years. Aarskog syndrome definition of aarskog syndrome by.
Methods 21 boys under 17 years of age with a confirmed clinical diagnosis of aarskog syndrome were assessed using the griffiths mental development scales and the british ability scales. Aarskog syndrome has been assigned to the x chromosome on the basis of pedigree analysis but this interpretation remains open to doubt. Aarskog syndrome is an inherited disease that affects a persons height, muscles, skeleton, genitals, and appearance of the face. If you have problems viewing pdf files, download the latest version of adobe. Partial expression of the syndrome was confirmed in two of the three examined obligate female heterozygotes, who had short stature, small hands and feet, short neck, and a round face with widows peak and, in one of them, ptosis of the eyelids. However, females can have milder symptoms of the syndrom. It causes facial abnormalities, skeletal and genital anomalies since it causes changes in the size and shape of certain bones and cartilage in the body. Patients present with anomalies of the face, genitalia, and limbs.
Familial syndrome resembling aarskog syndrome xu 2010. The condition is caused by changes mutations in a gene called faciogenital dysplasia fgd1. Aarskogscott syndrome with attention deficithyperactivity disorder and a form of syndromic xlinked mental retardation mrxs16 are also caused by mutation in the fgd1 gene. Aarskog syndrome is a genetic condition that includes health issues like short stature, differences in facial features, skeletal problems, genital differences, and sometimes mild intellectual disability. Aarskog syndrome an xlinked recessivemim 305400 condition characterised by short stature, facial abnormalitiesocular hypertelorism, broad nose, long philtrum, hypoplastic maxilla, lowset drooping ears, anteverted nostrils, broad upper lip, curved linear dimple below the lower lip, patientosis, downslanted palpebral fissures, ophthalmoplegia, strabismus, hyperopic astigmatism, large. It affects mainly males, but females may have a milder form. Introduction scott aarskog syndrome is an xlinked disorder characterised by short stature, hypertelorism, shawl scrotum in boys and brachydactyly. However, their family had fathertoson transmission, and a family reported by welch 1974 had affected males in 3 consecutive generations. The syndrome is also known as aarskog syndrome, aarskogscott syndrome, and faciodigitogenital syndrome sugarman et al. Because the responsible gene is located on the x chromosome, aarskog syndrome. This syndrome is characterized by short stature, peculiar facies, abnormalities of the hands and. First described in a norwegian family in 1970 by the pediatrician dagfinn aarskog, the disorder has been recognized worldwide in most ethnic and racial groups. This condition mainly affects males, although females may have mild features of the syndrome. Aarskog syndrome mainly affects males, although females may have mild features of the syndrome.
709 1419 237 905 763 6 236 1260 529 1127 843 1509 1489 136 1096 1297 381 378 1184 592 641 630 1143 1160 698 844 382 916 1337 108 1409 129 1297 1457 228 1377 122 367 1371 1223 599 1421 180 1382 446 247