dwarfism, familial, with muscle spasms
MONDO:0010928
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Familial dwarfism and painful muscle spasms
Familial dwarfism and painful muscle spasms is a very rare genetic disorder which is characterized by moderate-severe short stature, painful muscle spasms of the limbs and torso, thin, sparse scalp hair, complete absence of body hair, large, low-set ears, broad nose, high-pitched voice, heart ventricle hypertrophy, and high fasting glucose levels. These symptoms usually begin in early childhood. It has been described in two members from a family from Northern Argentina, although the number of affected members could be higher, since the only proof of more family members with the disorder (to be more specific, a double first cousin and the father of the patients) was an oral confirmation from the patients. The double first cousin and father were not examined.
Background only. Canonical identity remains MONDO; clinical-trial relationships come from ClinicalTrials.gov.Drugs being studied
Disease identity and terminology: MONDO. Trial relationships: ClinicalTrials.gov.