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SHORTS
MCID: SHR029
MIFTS: 58
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Short Syndrome (SHORTS)
Categories:
Cardiovascular diseases, Endocrine diseases, Eye diseases, Fetal diseases, Genetic diseases, Rare diseases, Skin diseases
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MalaCards integrated aliases for Short Syndrome:
Characteristics:Orphanet epidemiological data:58
short syndrome
Inheritance: Autosomal dominant; Prevalence: <1/1000000 (Worldwide); Age of onset: Neonatal; Age of death: normal life expectancy; OMIM®:57 (Updated 05-Apr-2021)
Inheritance:
autosomal dominant
Miscellaneous:
short is an acronym for short stature, hyperextensibility of joints/hernia, ocular depression, rieger anomaly, teething delay de novo mutation identified in some patients HPO:31GeneReviews:25
Penetrance The penetrance of short syndrome appears complete in all individuals undergoing molecular genetic testing to date: all simplex cases (i.e., a single occurrence in a family) with parents available for testing have had a de novo...
Classifications:
MalaCards categories:
Global: Genetic diseases Rare diseases Fetal diseases Anatomical: Eye diseases Skin diseases Endocrine diseases Cardiovascular diseases
ICD10:
33
Orphanet: 58
Rare eye diseases
Rare skin diseases
Rare endocrine diseases
Developmental anomalies during embryogenesis External Ids:
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MedlinePlus Genetics :
43
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.
MalaCards based summary : Short Syndrome, also known as short stature, hyperextensibility, hernia, ocular depression, rieger anomaly, and teething delay, is related to glucose intolerance and apnea, obstructive sleep. An important gene associated with Short Syndrome is PIK3R1 (Phosphoinositide-3-Kinase Regulatory Subunit 1), and among its related pathways/superpathways are PI3K-Akt signaling pathway and Nanog in Mammalian ESC Pluripotency. Affiliated tissues include eye, bone and colon, and related phenotypes are inguinal hernia and sensorineural hearing impairment Disease Ontology : 12 A syndrome of multiple anomalies whose name stands for short stature, hyperextensibility of joints, ocular depression, Rieger anomaly and teething delay which, along with mild intrauterine growth restriction, partial lipodystrophy, delayed bone age, hernias and progeroid appearance, that has material basis in heterozygous mutation in PIK3R1 on chromosome 5q13. GARD : 20 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. OMIM® : 57 'Short,' the mnemonic designation for this syndrome, is an acronym: S = stature; H = hyperextensibility of joints or hernia (inguinal) or both; O = ocular depression; R = Rieger anomaly; T = teething delay. The name was given by Gorlin (1975), who described the syndrome in 2 brothers. Dyment et al. (2013) noted that the features listed in the acronym for SHORT syndrome do not capture the full range of the clinical phenotype, which can include a recognizable facial gestalt consisting of triangular facies, lack of facial fat, and hypoplastic nasal alae with overhanging columella, as well as near-universal partial lipodystrophy, insulin resistance, nephrocalcinosis, and hearing deficits. Notably, both developmental milestones and cognition are normal for individuals with SHORT syndrome. (269880) (Updated 05-Apr-2021) KEGG : 36 SHORT syndrome is a rare autosomal-dominant disorder characterized by short stature, hyperextensibility of joints, hernias, ocular depression, ophthalmic anomalies, teething delay, partial lipodystrophy, insulin resistance, and facial dysmorphic signs. Mutations in PIK3R1 cause this syndrome. UniProtKB/Swiss-Prot : 72 SHORT syndrome: A rare, multisystem disease characterized by short stature, anomalies of the anterior chamber of the eye, characteristic facial features such as triangular facies, lack of facial fat, and hypoplastic nasal alae with overhanging columella, partial lipodystrophy, hernias, hyperextensibility, and delayed dentition. The clinical phenotype can include insulin resistance, nephrocalcinosis, and hearing deficits. Developmental milestones and cognition are normal. Wikipedia : 73 SHORT syndrome is a medical condition in which affected individuals have multiple birth defects in... more...
GeneReviews:
NBK201365
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Human phenotypes related to Short Syndrome:58 31 (show top 50) (show all 66)
Symptoms via clinical synopsis from OMIM®:57 (Updated 05-Apr-2021)Clinical features from OMIM®:269880 (Updated 05-Apr-2021)GenomeRNAi Phenotypes related to Short Syndrome according to GeneCards Suite gene sharing:26 (show all 12)
MGI Mouse Phenotypes related to Short Syndrome:46 (show all 11)
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Cochrane evidence based reviews: short syndrome |
MalaCards organs/tissues related to Short Syndrome:40
Eye,
Bone,
Colon,
Thyroid
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Articles related to Short Syndrome:(show top 50) (show all 72)
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Genes related to Short Syndrome (1 elite genes):(show all 25) - Elite gene
- Cancer Census gene in COSMIC
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ClinVar genetic disease variations for Short Syndrome:6 (show top 50) (show all 107)
UniProtKB/Swiss-Prot genetic disease variations for Short Syndrome:72
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Search
GEO
for disease gene expression data for Short Syndrome.
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Pathways related to Short Syndrome according to KEGG:36
Pathways related to Short Syndrome according to GeneCards Suite gene sharing:(show all 35)
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Biological processes related to Short Syndrome according to GeneCards Suite gene sharing:(show all 20)
Molecular functions related to Short Syndrome according to GeneCards Suite gene sharing:
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