Catalog

SHORT syndrome

No MMS code

Link to WHO Definition

SHORT syndrome – http://id.who.int/icd/entity/1264512044

SHORT' represents an acronym for a syndrome associating short stature (S), hyperextensibility of joints or hernia (inguinal) or both (H), ocular depression (O), Rieger anomaly (R), and teething delay (T). Patients also present with a characteristic triangular face with small facial bones, deep-set eyes, mid-face hypoplasia, thin nasal alae, and micrognathia, with a thin, dry, and wrinkled skin resulting in a progeroid appearance. The short stature is accompanied by delayed bone age and developmental delay. Lipoatrophy or dystrophy of the face and limbs, as well as insulino-resistant diabetes and polycystic ovaries can occur. Sensorineural hearing loss has also been reported.