Question: What is (are) SHORT syndrome ?
Answer: SHORT syndrome is a condition characterized by multiple abnormalities that affect several parts of the body. 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. 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. It is caused by mutations in the PIK3R1 gene. Inheritance is autosomal dominant. Treatment focuses on the specific symptoms present in each individual.
Source: GARD

Question: What are the symptoms of SHORT syndrome ?
Answer: What are the signs and symptoms of SHORT syndrome? SHORT syndrome is a disorder that affects multiple parts of the body. It is mainly characterized by several features that are represented by the acronym SHORT: (S) short stature; (H) hyperextensible joints (joints that stretch more than usual) 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. A loss of fat under the skin (lipodystrophy), usually most prominent in the face and upper body, is also a main feature of the syndrome. Affected individuals often have additional, distinctive, facial features including a small chin with a dimple; triangular-shaped face; prominent forehead; abnormal positioning of the ears; large ears; underdeveloped (hypoplastic) or thin nostrils; and thin, wrinkled skin that gives the impression of premature aging. Intelligence is often normal, but some affected individuals have speech delay and/or other developmental delays in childhood. Hearing loss is common. Affected infants may have difficulty gaining weight and may be prone to illnesses. Individuals may also develop diabetes in the second decade of life. The Human Phenotype Ontology provides the following list of signs and symptoms for SHORT syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormality of the anterior chamber 90% Aplasia/Hypoplasia of the iris 90% Deeply set eye 90% Hernia of the abdominal wall 90% Joint hypermobility 90% Sensorineural hearing impairment 90% Short stature 90% Abnormal hair quantity 50% Abnormality of adipose tissue 50% Abnormality of dental enamel 50% Abnormality of the pupil 50% Diabetes mellitus 50% Glaucoma 50% Insulin resistance 50% Malar flattening 50% Megalocornea 50% Microdontia 50% Neurological speech impairment 50% Weight loss 50% Abnormality of the hip bone 7.5% Brachydactyly syndrome 7.5% Clinodactyly of the 5th finger 7.5% Frontal bossing 7.5% Hand polydactyly 7.5% Hypertelorism 7.5% Hypoplasia of the zygomatic bone 7.5% Myotonia 7.5% Nephrolithiasis 7.5% Opacification of the corneal stroma 7.5% Posterior embryotoxon 7.5% Prominent supraorbital ridges 7.5% Telecanthus 7.5% Triangular face 7.5% Wide nasal bridge 7.5% Abnormality of the immune system - Autosomal dominant inheritance - Birth length less than 3rd percentile - Cataract - Chin dimple - Clinodactyly - Delayed eruption of teeth - Delayed skeletal maturation - Delayed speech and language development - Dental malocclusion - Enlarged epiphyses - Glucose intolerance - Hyperglycemia - Hypodontia - Inguinal hernia - Insulin-resistant diabetes mellitus - Intrauterine growth retardation - Joint laxity - Lipodystrophy - Macrotia - Myopia - Prominent forehead - Radial deviation of finger - Rieger anomaly - Small for gestational age - Thin skin - Underdeveloped nasal alae - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.
Source: GARD

Question: Is SHORT syndrome inherited ?
Answer: How is SHORT syndrome inherited? SHORT syndrome is inherited in an autosomal dominant pattern. For conditions with autosomal dominant inheritance, one abnormal copy of the causative gene in each cell is sufficient to cause signs and symptoms of the condition. The abnormal copy of the gene may be inherited from an affected parent, or it may occur for the first time in an affected individual. When an individual with an autosomal dominant condition has children, each child has a 50% (1 in 2) risk to be affected.
Source: GARD

Question: How to diagnose SHORT syndrome ?
Answer: How is SHORT syndrome diagnosed? 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. The features most consistently observed in SHORT syndrome include: Intrauterine growth restriction (IUGR) Short stature Partial lipodystrophy 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. Other frequent features include: Axenfeld-Rieger anomaly or related eye anomalies Delayed dentition Diabetes. 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.
Source: GARD