Preferred Label : SHORT syndrome;
ICD-11 definition : 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.;
ICD-11 synonym : Aarskog-Ose-Pande syndrome; Rieger anomaly - partial lipodystrophy; Lipodystrophy - Rieger anomaly - diabetes;
ICD-11 inclusion : Aarskog syndrome;
Origin ID : 1264512044;
Automatic exact mappings (from CISMeF team)
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.
