Short stature, hyperextensibility, hernia, ocular depression, Rieger anomaly, and teething delay
Última actualización 25 Jul 2023
Cumple con las directrices editoriales
- DescargarDescargar
- Compartir
- Language
- Discusión
- Versión en audio
- Agregar a fuentes preferidas en Google
Short stature, hyperextensibility, hernia, ocular depression, Rieger anomaly, and teething delay, commonly known by the acronym SHORT syndrome, is a rare disorder that affects many parts of the body.
Descripción
Short stature, hyperextensibility, hernia, ocular depression, Rieger anomaly, and teething delay, commonly known by the acronym SHORT syndrome, is a rare disorder that affects many parts of the body.
Most people with SHORT syndrome are small at birth and gain weight slowly in childhood. Affected adults tend to have short stature compared with others in their family. Many have a lack of fatty tissue under the skin (lipoatrophy), primarily in the face, arms, and chest. This lack of fat, together with thin, wrinkled skin and veins visible beneath the skin, makes affected individuals look older than their biological age. This appearance of premature aging is sometimes described as progeroid.
Most people with SHORT syndrome have distinctive facial features. 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. Eye abnormalities are common in affected individuals, particularly Rieger anomaly, which affects structures at the front of the eye. Rieger anomaly can be associated with increased pressure in the eye (glaucoma) and vision loss. 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.
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. A few affected individuals have developed problems with blood sugar (glucose) regulation including insulin resistance and diabetes. 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.
Patrones de herencia
The source lists the following possible inheritance patterns: Autosomal dominant. More than one pattern can apply in different cases.
Related genes
Otros nombres
Growth retardation-Rieger anomaly
Lipodystrophy, partial, with Rieger anomaly and short stature
Short stature-hyperextensibility-Rieger anomaly-teething delay
SHORT syndrome
Related patient information and medicines
Patient information leaflet
Crecimiento restringido
Enanismo es a medical or genetic condition which causes people to have restricted growth so that they are shorter than average. Specifically, people with dwarfism grow no higher than 4 ft 10 ins (147 cm). What is restricted growth (dwarfism). Restricted growth is a medical condition causing people to grow less than others, so that they are shorter.
Patient information leaflet
síndrome de Ehlers-Danlos
The Ehlers-Danlos syndromes (EDS) son a group of conditions that affect the stretchiness and strength of supporting tissues in the body, including skin, joints, blood vessels and internal organs. EDS affects connective tissue - people with EDS have a problem with the formation and structure of connective tissue in the body. Criterio 1:.
Patient information leaflet
Deficiencia de vitamina D
Vitamin D deficiency happens when your body does not have enough vitamin D. This is a nutrient that helps keep bones, teeth, and muscles healthy. Vitamin D deficiency is common, especially in people who get little sunlight or have low vitamin D intake from their diet. Vitamin D is an essential vitamin that helps the body absorb calcium and.
Patient information leaflet
Espondiloartritis axial
Espondiloartritis axial (also known as axSpA o axial SpA) is a painful, chronic arthritis that mainly affects the joints of the spine, and also the joints connecting each side of the base of the spine with the pelvis (sacroiliac joints). It can also affect other joints in the body, as well as tendons and ligaments. 2) Non radiographic axial.
Patient information leaflet
tomografía computarizada
Note : the information below is a general guide only. The arrangements, and the way tests are performed, may vary between different hospitals. Always follow the instructions given by your doctor or local hospital. What is a CT scan. A CT scan is a specialised X-ray test. It can give quite clear pictures of the inside of your body. In particular,.
Patient information leaflet
Depresión
Some people have repeated episodes of depresión and require long-term treatment to keep symptoms away. Depresión (also known as clinical depression, major depresión o major depressive disorder) es un mental salud condition. The main symptom is low mood (sadness), but it can also cause many other symptoms, such as a loss of enjoyment in things,.
Lecturas adicionales y referencias
- Short stature, hyperextensibility, hernia, ocular depression, Rieger anomaly, and teething delay; MedlinePlus, National Library of Medicine.
- Chudasama KK, Winnay J, Johansson S, Claudi T, Konig R, Haldorsen I, Johansson B, Woo JR, Aarskog D, Sagen JV, Kahn CR, Molven A, Njolstad PR. SHORT syndrome with partial lipodystrophy due to impaired phosphatidylinositol 3 kinase signaling. Am J Hum Genet. 2013 Jul 11;93(1):150-7. doi: 10.1016/j.ajhg.2013.05.023. Epub 2013 Jun 27.
- Dyment DA, Smith AC, Alcantara D, Schwartzentruber JA, Basel-Vanagaite L, Curry CJ, Temple IK, Reardon W, Mansour S, Haq MR, Gilbert R, Lehmann OJ, Vanstone MR, Beaulieu CL; FORGE Canada Consortium; Majewski J, Bulman DE, O'Driscoll M, Boycott KM, Innes AM. Mutations in PIK3R1 cause SHORT syndrome. Am J Hum Genet. 2013 Jul 11;93(1):158-66. doi: 10.1016/j.ajhg.2013.06.005. Epub 2013 Jun 27.
- Koenig R, Brendel L, Fuchs S. SHORT syndrome. Clin Dysmorphol. 2003 Jan;12(1):45-9. doi: 10.1097/00019605-200301000-00008.
- Schroeder C, Riess A, Bonin M, Bauer P, Riess O, Dobler-Neumann M, Wieser S, Moog U, Tzschach A. PIK3R1 mutations in SHORT syndrome. Clin Genet. 2014 Sep;86(3):292-4. doi: 10.1111/cge.12263. Epub 2013 Oct 17.
- Thauvin-Robinet C, Auclair M, Duplomb L, Caron-Debarle M, Avila M, St-Onge J, Le Merrer M, Le Luyer B, Heron D, Mathieu-Dramard M, Bitoun P, Petit JM, Odent S, Amiel J, Picot D, Carmignac V, Thevenon J, Callier P, Laville M, Reznik Y, Fagour C, Nunes ML, Capeau J, Lascols O, Huet F, Faivre L, Vigouroux C, Riviere JB. PIK3R1 mutations cause syndromic insulin resistance with lipoatrophy. Am J Hum Genet. 2013 Jul 11;93(1):141-9. doi: 10.1016/j.ajhg.2013.05.019. Epub 2013 Jun 27.
Únete a la conversación
Comparte tus pensamientos o experiencias con otros en nuestro comunidades de pacientes.
Pregunta, comparte, conecta.
Navega por discusiones, haz preguntas y comparte experiencias en cientos de temas de salud.
Suscríbete al boletín de Patient
Tu dosis semanal de consejos de salud claros y confiables, escritos para ayudarte a sentirte informado, seguro y en control.
Al suscribirte aceptas nuestros Política de Privacidad. Puedes darte de baja en cualquier momento. Nunca vendemos tus datos.