- Aarskog-Ose-Pande syndrome
- Partial lipodystrophy with Rieger anomaly and short stature
- Short stature, Hyperextensibility, Hernia, Ocular depression, Rieger anomaly and Teething delay
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Affected individuals often have additional, distinctive, facial features including a small chin with a dimple; triangular-shaped face; prominent forehead; abnormal positioning of the ears; large ears; underdeveloped (hypoplastic) or thin nostrils; and thin, wrinkled skin that gives the impression of premature aging (progeria).
Intelligence is often normal, but some affected individuals have speech delay and/or other developmental delays in childhood. Hearing loss is common. Affected infants may have difficulty gaining weight and may be prone to illnesses. Individuals may also develop diabetes in the second decade of life.
The Human Phenotype Ontology provides the following list of signs and symptoms for SHORT syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms.
The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature.
The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined.
Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.
- SHORT syndrome. NORD. August 17, 2007; http://www.rarediseases.org/rare-disease-information/rare-diseases/byID/938/viewAbstract. Accessed 11/1/2011.
- Koenig, Rainer; Brendel, Leticia; Fuchs, Sigrun. SHORT syndrome. Clinical Dysmorphology. January 2003; 12(1):45-49.