Van Goethem syndrome

Van Goethem syndrome

Van Goethem Syndrome, also called radiodigitofacial dysplasia, is a birth defect.

Symptoms/Description

Very frequent signs of the disorder include:
*Anemia
*Absence or abnormality of the clavicle
*Difficulties feeding in infancy
*High-vaulted or narrow palate
*Narrow, sloping shoulders
*Downturned mouth
*Platelet disorders
*Talipes-varus/valgus
*Short stature or dwarfism
*Hypoplastic thumb
*Hyperglycemia
*Diabetes mellitus
*Absent or abnormal humerus
*Micrognatia/retrognatia
*Median ray abnormal or cleft hand
*Restricted joint mobility

Causes

Treatments

External links

* [http://www.orpha.net//consor/cgi-bin/OC_Exp.php?Lng=DE&Expert=3014 orpha.net]


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