Short stature, hyperextensibility, hernia, ocular depression, Rieger anomaly, and teething delay

Also known as: growth retardation-Rieger anomaly; lipodystrophy, partial, with Rieger anomaly and short stature; short stature-hyperextensibility-Rieger anomaly-teething delay; SHORT syndrome

Definition

Genetics Home Reference

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 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.

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Orphanet

SHORT syndrome is a rare inherited condition of multiple anomalies whose name stands for short stature, hyperextensibility of joints, ocular depression, Rieger anomaly (see this term) and teething delay which, along with mild intrauterine growth restriction, partial lipodystrophy, delayed bone age, hernias and progeroid appearance, are manifestations of the disease.

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Symptoms

Medical Term Other Names Description
Narrow naris Slit-like nostrils, Naris, slit-like, Narrow nares, Thin nostrils, Collapsed nostrils, Narrow nostrils, Thin nares, Small nostrils [more] Slender, slit-like aperture of the nostril.
Premature skin wrinkling Wrinkled skin The presence of an increased degree of wrinkling (irregular folds and indentations) of the skin as compared with age-related norms.
Glaucoma Glaucoma refers loss of retinal ganglion cells in a characteristic pattern of optic neuropathy usually associated with increased intraocular pressure.
Downturned corners of mouth Downturned oral commisures, Downturned corners of the mouth, Downturned mouth [more] 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.
Inguinal hernia Protrusion of the contents of the abdominal cavity through the inguinal canal.
Prominent forehead Protruding forehead, Prominence of frontal region, Pronounced forehead, Bulging forehead [more] Forward prominence of the entire forehead, due to protrusion of the frontal bone.
Lipoatrophy Localized loss of fat tissue.
Hearing impairment Congenital deafness, Hypoacusis, Deafness, Hearing defect, Hearing loss, Congenital hearing loss [more] A decreased magnitude of the sensory perception of sound.
Lipodystrophy Degenerative changes of the fat tissue.
Joint hypermobility Double-Jointed, Extensible joints, Increased mobility of joints, Flexible joints, Joint hyperextensibility, Hyperextensible joints [more] The ability of a joint to move beyond its normal range of motion.
Deeply set eye Deep-set eyes, Sunken eye, Ocular depression, Enophthalmos [more] An eye that is more deeply recessed into the plane of the face than is typical.
Nephrocalcinosis Increased calcium level in kidney Nephrocalcinosis is the deposition of calcium salts in renal parenchyma.
Short stature Decreased body height, Height less than 3rd percentile, Small stature, Stature below 3rd percentile [more] A height below that which is expected according to age and gender norms. Although there is no universally accepted definition of short stature, many refer to "short stature" as height more than 2 standard deviations below the mean for age and gender (or below the 3rd percentile for age and gender dependent norms).
Rieger anomaly A congenital malformation of the anterior segment characterized by iridicorneal malformation, glaucoma, iris stroma hypoplasia, posterior embryotoxon, and corneal opacities.
Short chin Vertical deficiency of chin, Small chin, Decreased height of chin, Short lower third of face [more] Decreased vertical distance from the vermilion border of the lower lip to the inferior-most point of the chin.
Depressivity Depression, Depressive disorder Frequent feelings of being down, miserable, and/or hopeless; difficulty recovering from such moods; pessimism about the future; pervasive shame; feeling of inferior self-worth; thoughts of suicide and suicidal behavior.
Cognitive impairment Abnormality of cognition, Cognitive abnormality, Intellectual impairment, Mental impairment, Cognitive deficits [more] Abnormality in the process of thought including the ability to process information.
Hypodontia Missing between one and six teeth, Failure of development of between one and six teeth A developmental anomaly characterized by a reduced number of teeth, whereby up to 6 teeth are missing.
Reduced number of teeth Decreased number of teeth, Failure of development of some teeth, Tooth agenesis, Missing some teeth, Fewer teeth than normal, Decreased tooth count [more] The presence of a reduced number of teeth as in Hypodontia or as in Anodontia.
Intrauterine growth retardation In utero growth retardation, Intrauterine retardation, Intrauterine growth restriction, Prenatal growth deficiency, Small for gestational age infant, Prenatal-onset growth retardation, Prenatal growth retardation, IUGR, Intrauterine growth retardation, IUGR, Prenatal growth failure, Intrauterine growth failure [more] An abnormal restriction of fetal growth with fetal weight below the tenth percentile for gestational age.
Hernia
Insulin resistance Increased resistance towards insulin, that is, diminished effectiveness of insulin in reducing blood glucose levels.
Global developmental delay Psychomotor developmental delay, Psychomotor retardation, Developmental delay, Lack of psychomotor development, Cognitive delay, Delayed intellectual development, Delayed milestones, Psychomotor development deficiency, Developmental retardation, Motor and developmental delay, Developmental delay in early childhood, Retarded psychomotor development, Retarded mental development, Delayed cognitive development, Retarded development, Delayed developmental milestones, Delayed development, Psychomotor development failure, Mental and motor retardation, Psychomotor delay, Delayed psychomotor development [more] A delay in the achievement of motor or mental milestones in the domains of development of a child, including motor skills, speech and language, cognitive skills, and social and emotional skills. This term should only be used to describe children younger than five years of age.
Delayed skeletal maturation Delayed bone age before puberty, Skeletal maturation retardation, Delayed bone age, Delayed bone maturation, Delayed skeletal development, Retarded bone age [more] 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.
Microdontia Hypotrophic tooth, Small tooth, Decreased width of tooth, Small teeth, Decreased size of tooth [more] Decreased size of the teeth, which can be defined as a mesiodistal tooth diameter (width) more than 2 SD below mean. Alternatively, an apparently decreased maximum width of tooth.
Triangular face Triangular facies, Face with broad temples and narrow chin, Triangular facial shape [more] Facial contour, as viewed from the front, triangular in shape, with breadth at the temples and tapering to a narrow chin.

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