SHORT Syndrome

At a glance

The acronym SHORT stands for Short stature, Hyperextensibility of joints or hernia or both, Ocular depression, Rieger anomaly, and Teething delay. Short stature with loss of fat under the skin (lipoatrophy) of the arms and face are very frequent features. Other distinguishing symptoms include defective development of the anterior chamber of the eye and diabetes mellitus.

Synonym

Rieger Anomaly-Growth Retardation Syndrome.

Genetic inheritance

Autosomal dominant.

Pathophysiology

Heterozygous mutation in PIK3R1 gene on 5q13.1, which encodes the Phosphatidylinositol 3-kinase. These mutations disrupt the insulin pathway predisposing patients to insulin resistance and diabetes. Other gene mutations have also been reported.

Diagnosis

Clinical features. Radiological features include delayed bone age. Growth hormone and thyroid function test are normal.

Clinical aspects

Craniofacial: distinctive triangular face; broad forehead; down-slanting palpebral fissures; broad nasal bridge; hypoplastic alae; down-turned corners of mouth; mild micrognathia. Teeth: delayed dentition; small, stained teeth. Eyes: sunken eyes, iridocorneal anomaly, congenital glaucoma. Ears: anteverted ears; sensorineural deafness. Joints: hyperextensibility; congenital hip dislocation. Limbs: clinodactyly. Abdominal: inguinal hernia. Growth: low birth weight dwarfism; short stature; lipoatrophy. Neurological: developmental delay; speech delay. Endocrinological: diabetes mellitus. Not all features may be present for the diagnosis of SHORT Syndrome.

Precautions before anesthesia

Check blood glucose levels before, during, and after procedure.

Anesthetic considerations

Preoperative fasting and glucose/insulin requirement depends on the presence and the severity of diabetes mellitus. Developmental delay and deafness may cause anxiety and a lack of cooperation. Care with positioning of patient to avoid dislocation of hyperextensible joints.

Pharmacological implications

Avoid succinylcholine and other drugs that may increase intraocular pressure in the presence of glaucoma.

Other conditions to be considered

• Aarskog Ose Pande Syndrome: First described in 1983. Characterized by lipodystrophy especially on the face and buttocks, Rieger anomaly, short stature, insulopenic diabetes mellitus, glucose intolerance, midface hypoplasia, hypotrichosis, and retarded bone age. It has been suggested that this medical condition is distinct from SHORT (Short stature, Hyperextensibility of joints or hernia or both, Ocular depression, Rieger anomaly, and Teething delay) Syndrome because of the absence of joint hypermobility and less extensive lipodystrophy but can also be considered phenotypic variant of SHORT Syndrome. The diabetes mellitus is usually noted by the fourth decade of life, but the onset may also be variable. The incidence is estimated as high as 1:133,000 Northern European regions, especially in the Lofoten Islands of Norway. An autosomal dominant inheritance trait has been suggested.

• Axenfeld-Rieger Syndrome: Genetically determined syndrome of the anterior chamber of the ...