Short syndrome

Preferred Label : Short syndrome;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Short stature, hyperextensibility, hernia, ocular depression, rieger anomaly, and teething delay; Lipodystrophy, partial, with rieger anomaly and short stature;

Description : '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;

Inheritance : Autosomal dominant;

Molecular basis : Caused by mutation in the phosphatidylinositol 3-kinase, regulatory, 1 gene (PIK3R1, 171833.0002);

Laboratory abnormalities : Hyperglycemia;

Prefixed ID : #269880;

Details

Origin ID

269880;

UMLS CUI

C0878684;

Automatic exact mappings (from CISMeF team)
- SHORT syndrome [ICD-11 More detail]
- SHORT syndrome [DO Concept]
Currated CISMeF NLP mapping
- SHORT syndrome [MeSH concept]
- SHORT syndrome [MeSH Supplementary Concept]
- SHORT syndrome [ORDO Disease]
DO Cross reference
- SHORT syndrome [DO Concept]
Genes related to phenotype
- Phosphatidylinositol 3-kinase, regulatory subunit 1 [OMIM gene]
HPO term(s)
- Abnormality of the immune system [HPO term]
- Abnormality of the skin [HPO term]
- Absence of subcutaneous fat [HPO term]
- Astigmatism [HPO term]
- Autosomal dominant inheritance [HPO term]
- Birth length less than 3rd percentile [HPO term]
- Cataract [HPO term]
- Clinodactyly [HPO term]
- Deeply set eye [HPO term]
- Delayed eruption of teeth [HPO term]
- Delayed skeletal maturation [HPO term]
- Delayed speech and language development [HPO term]
- Dental malocclusion [HPO term]
- Dimple chin [HPO term]
- Downturned corners of mouth [HPO term]
- Enlarged epiphyses [HPO term]
- Esotropia [HPO term]
- Frontal bossing [HPO term]
- Glaucoma [HPO term]
- Glucose intolerance [HPO term]
- High hypermetropia [HPO term]
- Hyperglycemia [HPO term]
- Hypermetropia [HPO term]
- Hypodontia [HPO term]
- Inguinal hernia [HPO term]
- Insulin resistance [HPO term]
- Insulin-resistant diabetes mellitus [HPO term]
- Intellectual disability, mild [HPO term]
- Intrauterine growth retardation [HPO term]
- Joint hypermobility [HPO term]
- Joint laxity [HPO term]
- Lipoatrophy [HPO term]
- Lipodystrophy [HPO term]
- Low-set ears [HPO term]
- Macrotia [HPO term]
- Megalocornea [HPO term]
- Micrognathia [HPO term]
- Midface retrusion [HPO term]
- Myopia [HPO term]
- Ovarian cyst [HPO term]
- Premature skin wrinkling [HPO term]
- Prominent forehead [HPO term]
- Prominent superficial veins [HPO term]
- Radial deviation of finger [HPO term]
- Reduced subcutaneous adipose tissue [HPO term]
- Rieger anomaly [HPO term]
- Sensorineural hearing impairment [HPO term]
- Short chin [HPO term]
- Slender long bone [HPO term]
- Small for gestational age [HPO term]
- Speech delay [HPO term]
- Telecanthus [HPO term]
- Thin skin [HPO term]
- Triangular face [HPO term]
- Underdeveloped nasal alae [HPO term]
- Wide nasal bridge [HPO term]
- obsolete Glucose intolerance [HPO term]
ORDO concept(s)
- SHORT syndrome [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- SHORT syndrome [ORDO Disease]
- SHORT syndrome [MeSH Supplementary Concept]
- SHORT syndrome [MeSH concept]
- SHORT syndrome [DO Concept]
- SHORT syndrome [MedDRA Preferred Term]

Keyword's position in hierarchy(ies) :

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