Edit concept Question Editor Create issue ticket

SHORT Syndrome

Aarskog-Ose-Pande syndrome

SHORT syndrome is a very rare genetic disease that is distinguished by the simultaneous presence of a short stature, prominent hyperextensibility of the joints, inguinal hernia, ocular abnormalities, lipodystrophy and a delay in tooth eruption. The diagnosis can be made only after a thorough physical examination that will identify all signs and symptoms, as genetic testing is scarcely available.


Presentation

Since its initial description more than 50 years ago, SHORT syndrome is an acronym composed of the five main clinical characteristics encountered in the few patients reported in the medical literature so far [1] [2] [3] [4]:

In addition to the above mentioned signs and symptoms, several other features are described in this small group of individuals: facial anomalies (micrognathia, a triangular appearance of the face, megalocornea, anteverted ears, and hypoplasia of the nasal alae), lipodystrophy (near complete absence of subcutaneous fat), insulin resistance and eventual development of diabetes mellitus, hearing impairment, clinodactyly, and normal intellectual development, which may be particularly important in distinguishing SHORT syndrome from many other genetic diseases that affect mental development [1] [6] [7].

Short Stature
  • We report four patients from two unrelated families with strikingly similar facial appearance, short stature, narrow body build and, in two of the patients, abnormalities of the iris stroma.[ncbi.nlm.nih.gov]
  • […] cases present in the lower range of normal body height, short stature and a small height relative to the gestational age is a defining feature of this syndrome.[symptoma.com]
  • We describe a boy with the manifestations of the SHORT syndrome: lipoatrophy, delayed speech development, minor facial anomalies, clinodactyly, and short stature.[ncbi.nlm.nih.gov]
  • This six-year-old girl shows nearly all the typical manifestations reported in patients with the SHORT syndrome, including lipoatrophy, minor facial anomalies, Rieger anomaly, and short stature.[ncbi.nlm.nih.gov]
  • It may be that clinicians should be looking among cases of unexplained hypercalcaemia for an alternative phenotypic presentation of this short stature syndrome.[ncbi.nlm.nih.gov]
Short Stature in Children
  • Key Points to Remember Key Points to Remember Short stature describes children who are in the third percentile or less on the pediatric growth chart. Most of the time, there is no medical cause for short stature.[rileychildrens.org]
  • Stature on Children and Adolescents » Download a printable version of the Frequently Asked Questions when Beginning Growth Hormone Therapy brochure » Click here for member benefits or to join The MAGIC Foundation » "LIKE" The MAGIC Foundation's Facebook[magicfoundation.org]
  • Bone age is usually normal for age in children with familial short stature. In children with CDGP the bone age corresponds with height age and is delayed (up to two standard deviations).[patient.info]
  • If your child has Kabuki syndrome, they may have: wide eyes with arched, interrupted eyebrows (a gap in the eyebrows) large and low-set ears a flat nasal tip (or squashed-looking nose) short stature (most children with Kabuki syndrome are below the 50th[rch.org.au]
  • Recombinant growth hormone for idiopathic short stature in children and adolescents. Cochrane Database Syst Rev. 2007;(3):CD004440. 27. Cohen P, Rogol AD, Deal CL, et al. 2007 ISS Consensus Workshop participants.[aafp.org]
Pediatric Disorder
  • Pediatric disorders of sex development. In: Melmed S, Polonsky KS, Larsen PR, Kronenberg HM, eds. Williams Textbook of Endocrinology. 13th ed. Philadelphia, PA: Elsevier; 2016:chap 23. Diamond DA, Nithiphaisal R.[medlineplus.gov]
Delayed Speech Development
  • We describe a boy with the manifestations of the SHORT syndrome: lipoatrophy, delayed speech development, minor facial anomalies, clinodactyly, and short stature.[ncbi.nlm.nih.gov]
  • Mild cognitive disorders have been described as well as delayed speech development can occur in childhood [ 1, 2, 3, 5, 6 ]. SHORT syndrome is inherited in an autosomal dominant manner [ 13 ].[ijponline.biomedcentral.com]
Bulky Stool
  • stool, which can be malodorous) Fluid depletion Weight loss and malnutrition Fatigue Persons with short bowel syndrome may have complications caused by malabsorption of vitamins and minerals, such as deficiencies in vitamins A, D, E, K, B 9 (folic acid[en.wikipedia.org]
Delayed Dentition
  • SHORT syndrome is a rare, multisystem disease characterized by short stature, anterior-chamber eye anomalies, characteristic facial features, lipodystrophy, hernias, hyperextensibility, and delayed dentition.[ncbi.nlm.nih.gov]
  • Delayed dentition, hypodontia, enamel hypoplasia, malocclusion and multiple dental caries are frequently reported. Ophthalmic anomalies (e.g. Rieger anomaly, Axenfeld anomaly (see these terms), glaucoma) are also characteristic of the disease.[orpha.net]
  • Other frequent features include: [3] [2] Axenfeld-Rieger anomaly or related eye anomalies Delayed dentition Diabetes. In general, the facial features allow to make a suspicion of the diagnosis.[rarediseases.info.nih.gov]
Dental Caries
  • Delayed dentition, hypodontia, enamel hypoplasia, malocclusion and multiple dental caries are frequently reported. Ophthalmic anomalies (e.g. Rieger anomaly, Axenfeld anomaly (see these terms), glaucoma) are also characteristic of the disease.[orpha.net]
  • Dental problems consist of delayed secondary tooth eruption, small or absent teeth, malposition, malocclusion, overcrowding of teeth, dental caries on the perilingual maxillary surface (due to gastro-oesophageal reflux disease (GERD)), periodontal disease[nature.com]
Hyperextensible Joints
  • The facial appearance and some of the features resemble the SHORT syndrome, the name being an acronym for Short stature, Hyperextensible joints, Ocular depression, Rieger anomaly and abnormalities of the Teeth.[ncbi.nlm.nih.gov]
  • 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[ghr.nlm.nih.gov]
  • Table 2 Family K8135: pairwise lod scores Discussion Consistent clinical findings in the affected males included short stature, obesity (fig 4 ), prominent lower lip, small testes and feet, hyperextensible joints, and kyphosis.[jmg.bmj.com]
Chin Dimples
  • Other features characteristic of the syndrome included intrauterine growth retardation (IUGR), slow weight gain, frequent illness, triangular face, anteverted ears, telecanthus, deeply set eyes, wide nasal bridge, hypoplastic alae nasi, chin dimple, micrognathia[ncbi.nlm.nih.gov]
  • dimple micrognathia clinodactyly partial lipodystrophy hearing loss functional heart murmur delayed bone age delayed speech glucose intolerance insulinopenic diabetes Affected individuals are thought to have normal intellect or mild retardation.[radiopaedia.org]
Average Intelligence
  • While some individuals with autism have intellectual disabilities, by definition, a person with Asperger’s Disorder cannot have a “clinically significant” cognitive delay, and most possess average to above-average intelligence.[autism-society.org]
  • Although these children may also possess signs of low blood sugar or obesity, they display average body proportions and (average intelligence.[hgfound.org]

Workup

Given the rarity of the condition (only 20 cases described until the end of the 20th century), the diagnosis of SHORT syndrome is difficult. But because clinical suspicion can only be raised after a thorough physical examination and a properly obtained patient history, these two steps must be regarded as essential in order to make the diagnosis. Identification of the five cardinal features that constitute the SHORT acronym will almost undoubtedly confirm the diagnosis. On the other hand, several reports imply that an autosomal dominant pattern of inheritance is the mode of SHORT syndrome transmission, although many cases have developed following de novo mutations without any association suggesting a familial event [1] [2] [6]. Nevertheless, a comprehensive family history should be obtained. The cause of SHORT syndrome was unknown until recently, but the discovery of phosphatidylinositol 3 kinase (PI3K) mutations in practically all individuals has opened up the possibility of genetic testing in patients with the typical clinical features of SHORT [1] [3] [5]. These tests are scarcely available, however, which is why the diagnosis rests on clinical criteria. Mutations in BMP4 and the PITX family of genes have also been described in certain studies, but their roles are yet to be confirmed [5] [6].

Delayed Bone Age
  • Additionally, the patients usually present a low birth weight and height, lipodystrophy, delayed bone age, hernias, low body mass index and a progeroid appearance.[ncbi.nlm.nih.gov]
  • bone age, delayed speech, normal intellect, glucose intolerance, and insulinopenic diabetes.[ncbi.nlm.nih.gov]
  • In addition to intrauterine growth retardation (IGR), which is readily noted, microcephaly, delayed bone age, and gracile long bones are observed in the majority of cases.[symptoma.com]
  • bone age delayed speech glucose intolerance insulinopenic diabetes Affected individuals are thought to have normal intellect or mild retardation.[radiopaedia.org]
  • Frequencies of other common features but not part of acronym SHORT in decreasing order of their occurrence are-lack of subcutaneous fat/very thin (100%), abnormal ears (95%), hypoplastic alae nasi (94%), normal intellect (90%), delayed bone age (82%),[indianpediatrics.net]

Treatment

  • Management and treatment Treatment is symptomatic and requires a multidisciplinary team. Screening for insulin resistance is recommended starting in mid-late childhood.[orpha.net]
  • Treatment Treatment has two goals: to ease symptoms and give you enough vitamins and minerals. The kind of treatment you get depends on how severe your condition is.[webmd.com]
  • Most cases of SBS are unique, so treatments often must be tailored to each case. Infants are at a critical stage in life and sensitive to treatments. Some SBS treatments that work for children and adults can’t be used on infants.[eurostemcell.org]
  • Treatment for short bowel syndrome Cases of short bowel syndrome that don’t resolve in time need lifelong treatment. The aim of treatment is to provide the correct balance of nutrients and fluid to enable normal growth, weight gain and activity.[betterhealth.vic.gov.au]
  • Management and treatment At present, an automatic implantable defibrillator is the only effective treatment for the prevention of sudden death in the short QT syndrome.[orpha.net]

Prognosis

  • Aim To characterize a Portuguese population with TTS and to determine their short- and medium-term prognosis.[revportcardiol.org]
  • Prognosis Individuals with SHORT syndrome are considered to have a normal life-expectancy. The documents contained in this web site are presented for information purposes only.[orpha.net]
  • Objectives Definition Etiology Clinical manifestation Management prognosis Complication 3. Definition It is a malabsorpative state that may follow massive resection of small intestine.[slideshare.net]
  • Prognosis [ edit ] There is no cure for short bowel syndrome except transplant. In newborn infants, the 4-year survival rate on parenteral nutrition is approximately 70%.[en.wikipedia.org]
  • They have poor prognosis due to the difficulty in treatment [ 4 ]. Left untreated, the height of patients with LS is a chronic problem.[alliedacademies.org]

Etiology

  • As part of the FORGE (Finding of Rare Disease Genes) Canada Consortium, we studied individuals with clinical features of SHORT syndrome to identify the genetic etiology of this rare disease.[ncbi.nlm.nih.gov]
  • Etiology SHORT syndrome is due to mutations in the PIK3R1 gene (5q13.1), encoding phosphatidylinositol 3-kinase regulatory subunit alpha.[orpha.net]
  • Etiology Mutations in three different genes KCNQ1 , KCNH2 , and KCNJ2 , all encoding cardiac ionic potassium channels have been identified in affected patients.[orpha.net]
  • Objectives Definition Etiology Clinical manifestation Management prognosis Complication 3. Definition It is a malabsorpative state that may follow massive resection of small intestine.[slideshare.net]
  • The three patients, which we classified as unknown etiology (Table 1 ), had no reported diarrhea, low C3 serum and negative results for EHEC diagnostic.[frontiersin.org]

Epidemiology

  • Summary Epidemiology The prevalence of SHORT syndrome is unknown. Less than 50 cases have been reported in the literature to date. Clinical description Individuals with SHORT syndrome often display mild intrauterine growth restriction.[orpha.net]
  • Summary Epidemiology This extremely rare syndrome affects mainly young adults or infants. Clinical description The clinical spectrum is very wide ranging from asymptomatic carriers to syncope or sudden death.[orpha.net]
  • Epidemiology Epidemiology is highly variable as this condition often reflects injury sequelae and not the distribution of a genetic disease.[clinicaladvisor.com]
  • Epidemiology The syndrome is rare and part of a small group of behavioural phenotypes associated with a physiological mechanism. Risk factors Hyperphagic short stature is strongly associated with poor environmental and social conditions.[patient.info]
  • Epidemiology: Short bowel syndrome can occur anywhere from birth into adulthood. The most common cause of SBS in infants and babies is necrotizing enterocolitis (NEC) which accounts for up to 40% of SBS patients.[eapsa.org]
Sex distribution
Age distribution

Pathophysiology

  • This study defines a clinically recognizable incomplete dominant form of SHORT syndrome, and provides relevant insights into the pathophysiological and phenotypical consequences of IGF1R mutations.[ncbi.nlm.nih.gov]
  • In: Sleisenger and Fordtran's Gastrointestinal and Liver Disease: Pathophysiology, Diagnosis, Management. 10th ed. Philadelphia, Pa.: Saunders Elsevier; 2016. . Accessed Sept. 20, 2016. Wyllie R, et al., eds. Short bowel syndrome.[mayoclinic.org]
  • Outline • Anatomy • Physiology • Definition • Pathophysiology • Classification(including etiology) • Clinical Presentation • Workup • Treatment 3.[slideshare.net]
  • Pathophysiology The general pathophysiology is one of an absolute or functional lack of appropriate small intestine to manage nutrient processing and absorption as well as water absorption.[clinicaladvisor.com]
  • Necrotizing enterocolitis (premature newborn) Bypass surgery to treat obesity Surgery to remove diseases or damaged portion of the small intestine Some children are also born with an abnormally short small intestine, known as congenital short bowel. [1] Pathophysiology[en.wikipedia.org]

Prevention

  • […] appropriate discharges Prevention of symptomatic episodes of atrial fibrillation However, drugs must be used with caution since the long-term efficacy of drug therapy in preventing serious arrhythmic events has been studied only in SQTS 1 patients and[escardio.org]
  • For the average person, eating a diet high in fiber from whole foods is important for staying healthy and preventing disease.[columbiasurgery.org]
  • This fat binds with calcium in the stool, preventing the normal combining of calcium and oxalate. Oxalate, which would normally be excreted in stool, instead is absorbed through the colon and excreted in higher than normal amounts in urine.[badgut.org]
  • Management and treatment At present, an automatic implantable defibrillator is the only effective treatment for the prevention of sudden death in the short QT syndrome.[orpha.net]

References

Article

  1. Dyment DA, Smith AC, Alcantara D, et al. Mutations in PIK3R1 Cause SHORT Syndrome. Am J Hum Genet. 2013;93(1):158-166.
  2. Lipson AH, Cowell C, Gorlin RJ. The SHORT syndrome: further delineation and natural history. Journal of Medical Genetics. 1989;26(7):473-475.
  3. Chudasama KK, Winnay J, Johansson S, et al. SHORT Syndrome with Partial Lipodystrophy Due to Impaired Phosphatidylinositol 3 Kinase Signaling. Am J Hum Genet. 2013;93(1):150-157.
  4. Koenig R, Brendel L, Fuchs S. SHORT syndrome. Clin Dysmorphol. 2003;12(1):45-49.
  5. Thauvin-Robinet C, Auclair M, Duplomb L, et al. PIK3R1 Mutations Cause Syndromic Insulin Resistance with Lipoatrophy. Am J Hum Genet. 2013;93(1):141-149.
  6. Singh A, Arora R, Singh P, Kapoor S. Short syndrome-an expanding phenotype. Indian Pediatr. 2013;50(4):414-416.
  7. Joo SH, Raygada M, Gibney S, Farzaneh I, Rennert OM. Case report on SHORT syndrome. Clin Dysmorphol. 1999;8(3):219-221.

Ask Question

5000 Characters left Format the text using: # Heading, **bold**, _italic_. HTML code is not allowed.
By publishing this question you agree to the TOS and Privacy policy.
• Use a precise title for your question.
• Ask a specific question and provide age, sex, symptoms, type and duration of treatment.
• Respect your own and other people's privacy, never post full names or contact information.
• Inappropriate questions will be deleted.
• In urgent cases contact a physician, visit a hospital or call an emergency service!
Last updated: 2019-06-28 12:24