Rare Pediatrics News
Disease Profile
SHORT syndrome
Prevalence estimates on Rare Medical Network websites are calculated based on data available from numerous sources, including US and European government statistics, the NIH, Orphanet, and published epidemiologic studies. Rare disease population data is recognized to be highly variable, and based on a wide variety of source data and methodologies, so the prevalence data on this site should be assumed to be estimated and cannot be considered to be absolutely correct.
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Age of onset
Neonatal
ICD-10
Q87.1
Inheritance
Autosomal dominant A pathogenic variant in only one gene copy in each cell is sufficient to cause an autosomal dominant disease.
Autosomal recessive Pathogenic variants in both copies of each gene of the chromosome are needed to cause an autosomal recessive disease and observe the mutant phenotype.
X-linked
dominant X-linked dominant inheritance, sometimes referred to as X-linked dominance, is a mode of genetic inheritance by which a dominant gene is carried on the X chromosome.
dominant X-linked dominant inheritance, sometimes referred to as X-linked dominance, is a mode of genetic inheritance by which a dominant gene is carried on the X chromosome.
X-linked
recessive Pathogenic variants in both copies of a gene on the X chromosome cause an X-linked recessive disorder.
recessive Pathogenic variants in both copies of a gene on the X chromosome cause an X-linked recessive disorder.
Mitochondrial or multigenic Mitochondrial genetic disorders can be caused by changes (mutations) in either the mitochondrial DNA or nuclear DNA that lead to dysfunction of the mitochondria and inadequate production of energy.
Multigenic or multifactor Inheritance involving many factors, of which at least one is genetic but none is of overwhelming importance, as in the causation of a disease by multiple genetic and environmental factors.
Not applicable
Other names (AKA)
Short stature, Hyperextensibility, Hernia, Ocular depression, Rieger anomaly and Teething delay; Aarskog-Ose-Pande syndrome; Partial lipodystrophy with Rieger anomaly and short stature
Categories
Congenital and Genetic Diseases; Endocrine Diseases; Eye diseases;
Summary
SHORT
Symptoms
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.[1][3]
Intelligence is often normal, but some affected individuals have speech delay and/or other developmental delays in childhood.[1][3]
This table lists symptoms that people with this disease may have. For most diseases, symptoms will vary from person to person. People with the same disease may not have all the symptoms listed. This information comes from a database called the Human Phenotype Ontology (HPO) . The HPO collects information on symptoms that have been described in medical resources. The HPO is updated regularly. Use the HPO ID to access more in-depth information about a symptom.
Medical Terms | Other Names |
Learn More:
HPO ID
|
---|---|---|
80%-99% of people have these symptoms | ||
Deeply set eye |
Deep set eye
Deep-set eyes
Sunken eye
[ more ] |
0000490 |
Hypoplasia of the iris |
Underdeveloped iris
|
0007676 |
Inguinal hernia | 0000023 | |
Joint hyperflexibility |
Joints move beyond expected range of motion
|
0005692 |
Sensorineural hearing impairment | 0000407 | |
Severe short stature |
Dwarfism
Proportionate dwarfism
Short stature, severe
[ more ] |
0003510 |
30%-79% of people have these symptoms | ||
Abnormal pupil morphology |
Abnormality of the pupil
Pupillary abnormalities
Pupillary abnormality
[ more ] |
0000615 |
Abnormality of dental enamel |
Abnormal tooth enamel
Enamel abnormalities
Enamel abnormality
[ more ] |
0000682 |
Alopecia |
Hair loss
|
0001596 |
0000819 | ||
Excessive wrinkled skin | 0007392 | |
Glaucoma | 0000501 | |
Insulin resistance |
Body fails to respond to insulin
|
0000855 |
Lipodystrophy |
Inability to make and keep healthy fat tissue
|
0009125 |
Megalocornea |
Enlarged cornea
|
0000485 |
Microdontia |
Decreased width of tooth
|
0000691 |
Midface retrusion |
Decreased size of midface
Midface deficiency
Underdevelopment of midface
[ more ] |
0011800 |
Neurological speech impairment |
Speech disorder
Speech impairment
Speech impediment
[ more ] |
0002167 |
Poor appetite |
Decreased appetite
|
0004396 |
Sparse hair | 0008070 | |
Weight loss | 0001824 | |
5%-29% of people have these symptoms | ||
Abnormal anterior chamber morphology | 0000593 | |
Abnormality of the mandible |
Abnormality of the lower jaw bone
|
0000277 |
Short fingers or toes
|
0001156 | |
Corneal opacity | 0007957 | |
Hypertelorism |
Wide-set eyes
Widely spaced eyes
[ more ] |
0000316 |
Malar flattening |
Zygomatic flattening
|
0000272 |
Posterior embryotoxon | 0000627 | |
Prominent forehead |
Pronounced forehead
Protruding forehead
[ more ] |
0011220 |
Prominent supraorbital ridges |
Prominent brow
|
0000336 |
Short palm | 0004279 | |
Telecanthus |
Corners of eye widely separated
|
0000506 |
Triangular face |
Face with broad temples and narrow chin
Triangular facial shape
[ more ] |
0000325 |
Wide nasal bridge |
Broad nasal bridge
Broad nasal root
Broadened nasal bridge
Increased breadth of bridge of nose
Increased breadth of nasal bridge
Increased width of bridge of nose
Increased width of nasal bridge
Nasal bridge broad
Wide bridge of nose
Widened nasal bridge
[ more ] |
0000431 |
Percent of people who have these symptoms is not available through HPO | ||
Abnormality of the |
Immunological abnormality
|
0002715 |
Abnormality of the skin | 0000951 | |
0000006 | ||
Birth length less than 3rd percentile | 0003561 | |
Clouding of the lens of the eye
Cloudy lens
[ more ] |
0000518 | |
Clinodactyly |
Permanent curving of the finger
|
0030084 |
Delayed eruption of teeth |
Delayed eruption
Delayed teeth eruption
Delayed tooth eruption
Eruption, delayed
Late eruption of teeth
Late tooth eruption
[ more ] |
0000684 |
Delayed skeletal maturation |
Delayed bone maturation
Delayed skeletal development
[ more ] |
0002750 |
Delayed speech and language development |
Deficiency of speech development
Delayed language development
Delayed speech
Delayed speech acquisition
Delayed speech development
Impaired speech and language development
Impaired speech development
Language delay
Language delayed
Language development deficit
Late-onset speech development
Poor language development
Speech and language delay
Speech and language difficulties
Speech delay
[ more ] |
0000750 |
Dental malocclusion |
Bad bite
Malalignment of upper and lower dental arches
Misalignment of upper and lower dental arches
[ more ] |
0000689 |
Dimple chin |
Chin butt
Chin dent
Chin dimple
Chin skin dimple
Indentation of chin
[ more ] |
0010751 |
Downturned corners of mouth |
Downturned corners of the mouth
Downturned mouth
[ more ] |
0002714 |
Enlarged epiphyses |
Large end part of bone
|
0010580 |
Frontal bossing | 0002007 | |
Hyperglycemia |
High blood sugar
|
0003074 |
Hypodontia |
Failure of development of between one and six teeth
|
0000668 |
Insulin-resistant diabetes mellitus |
Insulin resistant diabetes
Insulin-resistant diabetes
[ more ] |
0000831 |