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| | {{Short description|A rare genetic disorder characterized by distinctive facial features, short stature, and other anomalies}} |
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| {{Refimprove|auto=yes|date=December 2009}}
| | '''SHORT syndrome''' is a rare [[genetic disorder]] that is characterized by a combination of distinctive [[facial features]], short stature, and other anomalies. The name "SHORT" is an acronym that stands for some of the common features of the syndrome: [[Short stature]], [[Hyperextensibility]] of joints and/or hernia, [[Ocular depression]], [[Rieger anomaly]] (a type of eye defect), and [[Teething delay]]. |
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| | name = SHORT syndrome
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| | caption = SHORT syndrome is inherited in a autosomal dominant manner
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| == '''Alternate names ''' == | | ==Signs and symptoms== |
| Short stature, Hyperextensibility, Hernia, Ocular depression, Rieger anomaly and Teething delay; Aarskog-Ose-Pande syndrome; Partial lipodystrophy with Rieger anomaly and short stature
| | Individuals with SHORT syndrome typically present with a variety of clinical features, which may include: |
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| == '''Definition''' ==
| | * '''Short stature''': Affected individuals are often significantly shorter than their peers. |
| '''SHORT syndrome''' is a medical condition in which affected individuals have multiple [[birth defect]]s in different [[organ system]]s. | | * '''Distinctive facial features''': These may include a triangular face, deep-set eyes, a prominent forehead, and a small chin. |
| | * '''Hyperextensibility of joints''': Some individuals may have joints that are more flexible than usual. |
| | * '''Ocular depression''': The eyes may appear sunken. |
| | * '''Rieger anomaly''': This is a defect of the eye that can affect the [[iris]] and [[cornea]]. |
| | * '''Teething delay''': There may be a delay in the eruption of teeth. |
| | * '''Other features''': Additional features can include [[hearing loss]], [[lipodystrophy]] (abnormal distribution of body fat), and [[insulin resistance]]. |
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| == '''Summary''' == | | ==Genetics== |
| * It was characterized in 1975.<ref name="pmid819054">{{cite journal |vauthors=Gorlin RJ, Cervenka J, Moller K, Horrobin M, Witkop CJ |title=Malformation syndromes. A selected miscellany |journal=Birth Defects Orig. Artic. Ser. |volume=11 |issue=2 |pages=39–50 |year=1975 |pmid=819054 |doi= |url=}}</ref>
| | SHORT syndrome is primarily caused by mutations in the [[PIK3R1]] gene. This gene provides instructions for making a protein that is part of a signaling pathway involved in cell growth, proliferation, and survival. Mutations in this gene can disrupt normal development and lead to the features of SHORT syndrome. |
| * SHORT syndrome is a condition characterized by multiple abnormalities that affect several parts of the body.
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| * The term SHORT is an acronym with each letter representing a common feature in affected individuals: (S) short stature; (H) [[hyperextensibility]] of joints and/or [[hernia]] (inguinal); (O) ocular depression (deep-set eyes); (R) Rieger anomaly (defective development of the anterior chamber of the eye that can lead to glaucoma); and (T) teething delay.
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| * Other features commonly present include a triangular face, small chin with a dimple, loss of fat under the skin ([[lipodystrophy]]), abnormal position of the ears, [[hearing loss]] and delayed speech.
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| == '''Epidemiology''' ==
| | The condition is inherited in an [[autosomal dominant]] pattern, which means one copy of the altered gene in each cell is sufficient to cause the disorder. In some cases, the mutation occurs as a new (de novo) mutation, meaning it is not inherited from either parent. |
| SHORT syndrome is a rare condition; its prevalence is unknown. Only a few affected individuals and families have been reported worldwide.
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| == '''Cause''' == | | ==Diagnosis== |
| * SHORT syndrome results from mutations in the '''PIK3R1 gene'''.
| | Diagnosis of SHORT syndrome is based on clinical evaluation, identification of characteristic physical findings, and genetic testing to confirm mutations in the PIK3R1 gene. A thorough medical history and physical examination are essential for diagnosis. |
| * This gene provides instructions for making one part (subunit) of an '''enzyme called PI3K''', which plays a '''role in chemical signaling within cells'''.
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| * PI3K signaling is important for many cell activities, including cell growth and division, movement (migration) of cells, production of new proteins, transport of materials within cells, and cell survival.
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| * Studies suggest that PI3K signaling may be involved in the regulation of several hormones, including [[insulin]], which helps control blood sugar levels.
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| * PI3K signaling may also play a role in the maturation of fat cells ([[adipocytes]]).
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| == '''Gene mutations''' == | | ==Management== |
| * '''Mutations in the PIK3R1 gene alter the structure of the subunit, which reduces the ability of PI3K to participate in cell signaling'''. Researchers are working to determine how these changes lead to the specific features of SHORT syndrome.
| | Management of SHORT syndrome is symptomatic and supportive. Treatment may involve a team of specialists, including [[endocrinologists]], [[ophthalmologists]], and [[geneticists]]. |
| * PI3K's role in insulin activity may be related to the development of insulin resistance and diabetes, and problems with adipocyte maturation might contribute to lipoatrophy in affected individuals.
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| * It is unclear how reduced PI3K signaling is associated with the other features of the condition.
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| == '''Inheritance''' ==
| | * '''Growth hormone therapy''': This may be considered to help improve growth in children with short stature. |
| [[File:Autosomal dominant - en.svg|thumb|right|Autosomal dominant pattern, a 50/50 chance.]]
| | * '''Ophthalmologic care''': Regular eye examinations and management of any eye anomalies are important. |
| * SHORT syndrome has an [[autosomal dominant]] pattern of inheritance, which means one copy of the altered PIK3R1 gene in each cell is sufficient to cause the disorder. | | * '''Hearing aids''': These may be necessary for individuals with hearing loss. |
| * In most cases, the condition results from a new mutation in the gene and occurs in people with no history of the disorder in their family. In other cases, an affected person inherits the mutation from one affected parent. | | * '''Nutritional support''': Ensuring adequate nutrition and monitoring for insulin resistance are important aspects of care. |
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| == '''Signs and symptoms''' == | | ==Prognosis== |
| * Most people with SHORT syndrome are small at birth and gain weight slowly in childhood.
| | The prognosis for individuals with SHORT syndrome varies depending on the severity of symptoms and the presence of any associated complications. With appropriate management, many individuals can lead relatively normal lives. |
| * Affected adults tend to have short stature compared with others in their family.
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| * Many have a lack of fatty tissue under the skin ([[lipoatrophy]]), primarily in the face, arms, and chest.
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| * This lack of fat, together with thin, wrinkled skin and veins visible beneath the skin, makes affected individuals look older than their biological age.
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| * This appearance of premature aging is sometimes described as progeroid.
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| * Most people with SHORT syndrome have distinctive facial features.
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| * These include a triangular face shape with a prominent forehead and deep-set eyes (ocular depression), thin nostrils, a downturned mouth, and a small chin.
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| * Eye abnormalities are common in affected individuals, particularly Rieger anomaly, which affects structures at the front of the eye.
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| * Rieger anomaly can be associated with increased pressure in the eye ([[glaucoma]]) and vision loss.
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| * Some people with SHORT syndrome also have dental abnormalities such as delayed appearance ([[eruption]]) of teeth in early childhood, small teeth, fewer teeth than normal ([[hypodontia]]), and a lack of protective covering ([[enamel]]) on the surface of the teeth.
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| * Other signs and symptoms that have been reported in people with SHORT syndrome include immune system abnormalities, a kidney disorder known as [[nephrocalcinosis]], [[hearing loss]], loose ([[hyperextensible]]) joints, and a soft out-pouching in the lower abdomen called an [[inguinal hernia]].
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| * A few affected individuals have developed problems with blood sugar regulation including [[insulin resistance]] and [[diabetes]].
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| * Most people with SHORT syndrome have normal intelligence, although a few have been reported with mild cognitive impairment or delayed development of speech in childhood.
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| == '''Clinical presentation''' == | | ==Related pages== |
| For most diseases, symptoms will vary from person to person. People with the same disease may not have all the symptoms listed.
| | * [[Genetic disorder]] |
| | * [[Growth hormone therapy]] |
| | * [[Lipodystrophy]] |
| | * [[Insulin resistance]] |
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| '''80%-99% of people have these symptoms'''
| | [[Category:Genetic disorders]] |
| * Deeply set eye(Deep set eye)
| | [[Category:Rare diseases]] |
| * Hypoplasia of the [[iris]](Underdeveloped iris)
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| * Inguinal [[hernia]]
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| * Joint hyperflexibility(Joints move beyond expected range of motion)
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| * Sensorineural hearing impairment
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| * Severe short stature(Dwarfism)
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| '''30%-79% of people have these symptoms'''
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| * Abnormal pupil morphology(Abnormality of the pupil)
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| * Abnormality of dental enamel(Abnormal tooth enamel)
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| * [[Alopecia]](Hair loss)
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| * [[Diabetes mellitus]]
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| * Excessive wrinkled skin
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| * [[Glaucoma]]
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| * Insulin resistance(Body fails to respond to insulin)
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| * [[Lipodystrophy]](Inability to make and keep healthy fat tissue)
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| * [[Megalocornea]](Enlarged cornea)
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| * [[Microdontia]](Decreased width of tooth)
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| * Midface retrusion(Decreased size of midface)
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| * Neurological speech impairment(Speech disorder)
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| * Poor appetite(Decreased appetite)
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| * Sparse hair
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| * Weight loss
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| '''5%-29% of people have these symptoms'''
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| * Abnormal anterior chamber morphology
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| * Abnormality of the mandible(Abnormality of the lower jaw bone)
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| * [[Brachydactyly]](Short fingers or toes)
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| * Corneal [[opacity]]
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| * [[Hypertelorism]](Wide-set eyes)
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| * Malar flattening(Zygomatic flattening)
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| * Posterior embryotoxon
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| * Prominent forehead(Pronounced forehead)
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| * Prominent supraorbital ridges(Prominent brow)
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| * Short palm
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| * [[Telecanthus]](Corners of eye widely separated)
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| * Triangular face(Face with broad temples and narrow chin)
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| * Wide nasal bridge(Broad nasal bridge)
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| == '''Diagnosis''' ==
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| There is no formal criteria for diagnosis yet. The term “SHORT syndrome” was first created to reflect several of the features of the original reported cases: Short stature, [[Hyperextensibility]], Ocular depression (deeply set eyes), [[Rieger anomaly]], and Teething delay. However, it is now recognized that all of these five features are neither required to make the diagnosis nor necessarily the most specific features of SHORT syndrome.
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| The features most consistently observed in SHORT syndrome include:
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| * [[Intrauterine growth restriction]] (IUGR)
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| * Short stature
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| * Partial [[lipodystrophy]]
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| * '''Facial characteristics:''' Face with triangular shape, prominent forehead, deep-set eyes, nose with a narrow low-hanging tip and thin nasal alae, small chin with a central dimple and large ears that are low-set.
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| Other frequent features include:
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| * [[Axenfeld-Rieger anomaly]] or related eye anomalies
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| * Delayed [[dentition]]
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| * [[Diabetes]].
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| In general, the facial features allow to make a suspicion of the diagnosis. Diagnosis is confirmed with the [[genetic testing]] showing a mutation in the PIK3R1 gene.
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| == '''Treatment''' ==
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| Treatment of manifestations: '''Glaucoma:''' reduce and stabilize intraocular pressure and to preserve vision.
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| * '''Sensorineural hearing loss:''' use of [[hearing aids]].
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| * '''Dental anomalies:''' standard treatment; may include crowns and dental prostheses.
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| * '''Glucose intolerance and diabetes mellitus: '''to be followed by an endocrine specialist.
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| * '''Surveillance:''' Regular monitoring of growth including height, weight, and body mass index. For all individuals with and without apparent anterior chamber anomaly: routine eye examinations to include measurement of intraocular pressure. Hearing assessment every two to three years. Screening for insulin resistance by oral [[glucose tolerance test]] every five years in the absence of [[diabetes]]. Annual screening lab tests for diabetes mellitus beginning after age ten years.
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| * '''Agents/circumstances to avoid:''' Administration of human [[growth hormone]] as it may exacerbate [[insulin resistance]]. One individual with SHORT syndrome had worsening insulin resistance when treated with [[metformin]]; additional study is needed to determine the effects of this drug.
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| * '''Pregnancy management:''' If present, [[diabetes mellitus]] is managed as appropriate.
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| {{DEFAULTSORT:Short Syndrome}}
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| [[Category:Congenital disorders]] | |
| [[Category:Syndromes]] | |
| {{congenital-malformation-stub}}
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| {{rarediseases}}
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| {{stub}}
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A rare genetic disorder characterized by distinctive facial features, short stature, and other anomalies
SHORT syndrome is a rare genetic disorder that is characterized by a combination of distinctive facial features, short stature, and other anomalies. The name "SHORT" is an acronym that stands for some of the common features of the syndrome: Short stature, Hyperextensibility of joints and/or hernia, Ocular depression, Rieger anomaly (a type of eye defect), and Teething delay.
Signs and symptoms
Individuals with SHORT syndrome typically present with a variety of clinical features, which may include:
- Short stature: Affected individuals are often significantly shorter than their peers.
- Distinctive facial features: These may include a triangular face, deep-set eyes, a prominent forehead, and a small chin.
- Hyperextensibility of joints: Some individuals may have joints that are more flexible than usual.
- Ocular depression: The eyes may appear sunken.
- Rieger anomaly: This is a defect of the eye that can affect the iris and cornea.
- Teething delay: There may be a delay in the eruption of teeth.
- Other features: Additional features can include hearing loss, lipodystrophy (abnormal distribution of body fat), and insulin resistance.
Genetics
SHORT syndrome is primarily caused by mutations in the PIK3R1 gene. This gene provides instructions for making a protein that is part of a signaling pathway involved in cell growth, proliferation, and survival. Mutations in this gene can disrupt normal development and lead to the features of SHORT syndrome.
The condition is inherited in an autosomal dominant pattern, which means one copy of the altered gene in each cell is sufficient to cause the disorder. In some cases, the mutation occurs as a new (de novo) mutation, meaning it is not inherited from either parent.
Diagnosis
Diagnosis of SHORT syndrome is based on clinical evaluation, identification of characteristic physical findings, and genetic testing to confirm mutations in the PIK3R1 gene. A thorough medical history and physical examination are essential for diagnosis.
Management
Management of SHORT syndrome is symptomatic and supportive. Treatment may involve a team of specialists, including endocrinologists, ophthalmologists, and geneticists.
- Growth hormone therapy: This may be considered to help improve growth in children with short stature.
- Ophthalmologic care: Regular eye examinations and management of any eye anomalies are important.
- Hearing aids: These may be necessary for individuals with hearing loss.
- Nutritional support: Ensuring adequate nutrition and monitoring for insulin resistance are important aspects of care.
Prognosis
The prognosis for individuals with SHORT syndrome varies depending on the severity of symptoms and the presence of any associated complications. With appropriate management, many individuals can lead relatively normal lives.
Related pages
