Wiedemann-Steiner syndrome, Hairy elbows, short stature, facial dysmorphism, and developmental delay, Wiedemann Grosse Dibbern syndrome

Overview

Type of disease: Rare Condition or Disease

Wiedemann-Steiner syndrome (WSS) includes distinctive facial features, growth delay and intellectual disability. Signs and symptoms vary, but facial features may been reported to include thick eyebrows, wide-spaced eyes, and narrow eye openings. People with WSS may also have hairy arms and back, feeding disorders, behavior problems, and seizures. Because WSS has been reported in a small number of individuals, information on how it changes over time is limited. WSS is caused by pathogenic variants in the KMT2A gene, and is usually occurs in an individual with no other family history. In a few cases, it has been inherited in an autosomal dominant pattern. Diagnosis is based on the symptoms, clinical exam, and confirmed by the results of genetic testing. Treatment is focused on managing the symptoms.
The following list includes the most common signs and symptoms in people with Wiedemann-Steiner syndrome (WSS). These features may be different from person to person. Some people may have more symptoms than others and they can range from mild to severe. This list does not include every symptom that has been described in the condition.

Signs and symptoms may include:
Growth delay before and after birth
Excessive hair on the arms and/or back (hypertrichosis)
Wide spaced eyes
Narrow palpebral fissures
Thick eyebrows
Intellectual disability
Developmental delay
Low muscle tone (hypotonia)

Other signs and symptoms may include skeletal and eye abnormalities, feeding problems in early childhood, and seizures. Adults with WSS have been reported to have behavior issues. About 60 cases of WSS have been described in the medical literature, and little is known about how this condition changes over time.

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