Phenotypes associated with the disease SHORT syndrome (OMIM:269880):
- Astigmatism (HP:0000483): A type of refraction error associated with abnormal curvatures on the anterior and/or posterior surface of the cornea. Evidence: PCS. Frequency: 5/11. (PMID:23810378)
- Delayed eruption of teeth (HP:0000684): Delayed tooth eruption, which can be defined as tooth eruption more than 2 SD beyond the mean eruption age. Evidence: PCS. Frequency: 6/6. (PMID:23810378)
- Mild intellectual disability (HP:0001256): Mild intellectual disability (ID) is defined as a type of ID characterized by mildly sub-average adaptive functioning and intellectual functioning, with an intelligence quotient (IQ) the range of 50-69. Evidence: PCS. Frequency: 4/8. (PMID:23810378)
- Megalocornea (HP:0000485): An enlargement of the cornea with normal clarity and function. Megalocornea is diagnosed with a horizontal corneal diameter of 12 mm or more at birth or 13 mm or more after two years of age. Evidence: IEA. (OMIM:269880)
- Hyperglycemia (HP:0003074): An increased concentration of glucose in the blood. Evidence: IEA. (OMIM:269880)
- Cataract (HP:0000518): A cataract is an opacity or clouding that develops in the crystalline lens of the eye or in its capsule. Evidence: IEA. (OMIM:269880)
- Prominent forehead (HP:0011220): Forward prominence of the entire forehead, due to protrusion of the frontal bone. Evidence: PCS. Frequency: 8/9. (PMID:23810378)
- Absence of subcutaneous fat (HP:0007485): Lack of subcutaneous adipose tissue. Evidence: PCS. Frequency: 8/8. (PMID:23810378)
- Rieger anomaly (HP:0000558): A congenital malformation of the anterior segment characterized by iridicorneal malformation, glaucoma, iris stroma hypoplasia, posterior embryotoxon, and corneal opacities. Evidence: PCS. Frequency: 2/8. (PMID:23810378)
- High hypermetropia (HP:0008499): A severe form of hypermetropia with over +5.00 diopters. Evidence: PCS. Frequency: 4/5. (PMID:23810378)
- Radial deviation of finger (HP:0009466): Bending or curvature of a finger toward the radial side (i.e., towards the thumb). The deviation is at the metacarpal-phalangeal joint, and this finding is distinct from clinodactyly. Evidence: IEA. (OMIM:269880)
- Insulin-resistant diabetes mellitus (HP:0000831): A type of diabetes mellitus related not to lack of insulin but rather to lack of response to insulin on the part of the target tissues of insulin such as muscle, fat, and liver cells. This type of diabetes is typically associated with increases both in blood glucose concentrations as well as in fasting and postprandial serum insulin levels. Evidence: PCS. Frequency: 5/8. (PMID:23810378)
- Delayed skeletal maturation (HP:0002750): A decreased rate of skeletal maturation. Delayed skeletal maturation can be diagnosed on the basis of an estimation of the bone age from radiographs of specific bones in the human body. Evidence: PCS. Frequency: 3/3. (PMID:23810378)
- Short chin (HP:0000331): Decreased vertical distance from the vermilion border of the lower lip to the inferior-most point of the chin. Evidence: PCS. Frequency: 18/18. (PMID:23810378)
- Birth length less than 3rd percentile (HP:0003561). Evidence: IEA. (OMIM:269880)
- Joint hypermobility (HP:0001382): The capability that a joint (or a group of joints) has to move, passively and/or actively, beyond normal limits along physiological axes. Evidence: PCS. Frequency: 2/6. (PMID:23810378)
- Deeply set eye (HP:0000490): An eye that is more deeply recessed into the plane of the face than is typical. Evidence: IEA. (OMIM:269880)
- Midface retrusion (HP:0011800): Posterior positions and/or vertical shortening of the infraorbital and perialar regions, or increased concavity of the face and/or reduced nasolabial angle. Evidence: PCS. Frequency: 14/16. (PMID:23810378)
- Dimple chin (HP:0010751): A persistent midline depression of the skin over the fat pad of the chin. Evidence: IEA. (OMIM:269880)
- Lipoatrophy (HP:0100578): Localized loss of fat tissue. Evidence: TAS. (OMIM:269880)
- Sensorineural hearing impairment (HP:0000407): A type of hearing impairment in one or both ears related to an abnormal functionality of the cochlear nerve. Evidence: IEA. (OMIM:269880)
- Dental malocclusion (HP:0000689): Dental malocclusion refers to an abnormality of the occlusion, or alignment, of the teeth and the way the upper and lower teeth fit together, resulting in overcrowding of teeth or in abnormal bite patterns. Evidence: IEA. (OMIM:269880)
- Reduced subcutaneous adipose tissue (HP:0003758): A reduced amount of fat tissue in the lowest layer of the integument. This feature can be appreciated by a reduced skinfold thickness. Evidence: PCS. Frequency: 8/8. (PMID:23810378)
- Macrotia (HP:0000400): Median longitudinal ear length greater than two standard deviations above the mean and median ear width greater than two standard deviations above the mean (objective); or, apparent increase in length and width of the pinna (subjective). Evidence: IEA. Frequency: 9/9. (OMIM:269880)
- Esotropia (HP:0000565): A form of strabismus with one or both eyes turned inward ('crossed') to a relatively severe degree, usually defined as 10 diopters or more. Evidence: PCS. Frequency: 2/10. (PMID:23810378)
- Prominent superficial veins (HP:0001015): A condition in which superficial veins (i.e., veins just under the skin) are more conspicuous or noticeable than normal. Evidence: PCS. Frequency: 5/7. (PMID:23810378)
- Autosomal dominant inheritance (HP:0000006): A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in heterozygotes. In the context of medical genetics, an autosomal dominant disorder is caused when a single copy of the mutant allele is present. Males and females are affected equally, and can both transmit the disorder with a risk of 50% for each child of inheriting the mutant allele. Evidence: PCS. (PMID:23810378)
- Thin skin (HP:0000963): Reduction in thickness of the skin, generally associated with a loss of suppleness and elasticity of the skin. Evidence: PCS. Frequency: 5/7. (PMID:23810378)
- Triangular face (HP:0000325): Facial contour, as viewed from the front, triangular in shape, with breadth at the temples and tapering to a narrow chin. Evidence: PCS. Frequency: 8/8. (PMID:23810378)
- Low-set ears (HP:0000369): Upper insertion of the ear to the scalp below an imaginary horizontal line drawn between the inner canthi of the eye and extending posteriorly to the ear. Evidence: PCS. Frequency: 18/18. (PMID:23810378)
- Inguinal hernia (HP:0000023): Protrusion of the contents of the abdominal cavity through the inguinal canal. Evidence: PCS. Frequency: 0/8. (PMID:23810378)
- Hypermetropia (HP:0000540): An abnormality of refraction characterized by the ability to see objects in the distance clearly, while objects nearby appear blurry. Evidence: PCS. Frequency: 4/5. (PMID:23810378)
- Abnormality of the immune system (HP:0002715): An abnormality of the immune system. Evidence: IEA. (OMIM:269880)
- Insulin resistance (HP:0000855): Increased resistance towards insulin, that is, diminished effectiveness of insulin in reducing blood glucose levels. Evidence: PCS. Frequency: 7/7. (PMID:23810378)
- Lipodystrophy (HP:0009125): Degenerative changes of the fat tissue. Evidence: IEA. (OMIM:269880)
- Clinodactyly (HP:0030084): An angulation of a digit at an interphalangeal joint in the plane of the palm (finger) or sole (toe). Evidence: TAS. (OMIM:269880)
- Downturned corners of mouth (HP:0002714): A morphological abnormality of the mouth in which the angle of the mouth is downturned. The oral commissures are positioned inferior to the midline labial fissure. Evidence: TAS. (OMIM:269880)
- Ovarian cyst (HP:0000138): The presence of one or more cysts of the ovary. Evidence: PCS. Frequency: 3/3. (PMID:23810378)
- Ovarian cyst (HP:0000138): The presence of one or more cysts of the ovary. Evidence: PCS. Frequency: 3/3. (PMID:23810378)
- Delayed speech and language development (HP:0000750): A degree of language development that is significantly below the norm for a child of a specified age. Evidence: PCS. Frequency: 4/8. (PMID:23810378)
- Wide nasal bridge (HP:0000431): Increased breadth of the nasal bridge (and with it, the nasal root). Evidence: IEA. (OMIM:269880)
- Underdeveloped nasal alae (HP:0000430): Thinned, deficient, or excessively arched ala nasi. Evidence: PCS. Frequency: 9/9. (PMID:23810378)
- Slender long bone (HP:0003100): Reduced diameter of a long bone. Evidence: PCS. Frequency: 2/6. (PMID:23810378)
- Enlarged epiphyses (HP:0010580): Increased size of epiphyses. Evidence: IEA. (OMIM:269880)
- Premature skin wrinkling (HP:0100678): The presence of an increased degree of wrinkling (irregular folds and indentations) of the skin as compared with age-related norms. Evidence: PCS. Frequency: 5/7. (PMID:23810378)
- Small for gestational age (HP:0001518): Smaller than normal size according to sex and gestational age related norms, defined as a weight below the 10th percentile for the gestational age. Evidence: PCS. Frequency: 5/8. (PMID:23810378)
- Telecanthus (HP:0000506): Distance between the inner canthi more than two standard deviations above the mean (objective); or, apparently increased distance between the inner canthi. Evidence: IEA. (OMIM:269880)
- Hypodontia (HP:0000668): The absence of five or less teeth from the normal series by a failure to develop. Evidence: IEA. (OMIM:269880)
- Frontal bossing (HP:0002007): Bilateral bulging of the lateral frontal bone prominences with relative sparing of the midline. Evidence: IEA. (OMIM:269880)
- Intrauterine growth retardation (HP:0001511): An abnormal restriction of fetal growth with fetal weight below the tenth percentile for gestational age. Evidence: IEA. (OMIM:269880)
- Glaucoma (HP:0000501): Glaucoma refers loss of retinal ganglion cells in a characteristic pattern of optic neuropathy usually associated with increased intraocular pressure. Evidence: IEA. (OMIM:269880)
- Micrognathia (HP:0000347): Developmental hypoplasia of the mandible. Evidence: PCS. Frequency: 9/9. (PMID:23810378)
- Myopia (HP:0000545): An abnormality of refraction characterized by the ability to see objects nearby clearly, while objects in the distance appear blurry. Evidence: PCS. Frequency: 1/5. (PMID:23810378)
- Glucose intolerance (HP:0001952): Glucose intolerance (GI) can be defined as dysglycemia that comprises both prediabetes and diabetes. It includes the conditions of impaired fasting glucose (IFG) and impaired glucose tolerance (IGT) and diabetes mellitus (DM). Evidence: IEA. (OMIM:269880)