ulna hypoplasia-intellectual disability syndrome
MONDO:0010165
Ulna hypoplasia - intellectual deficit is a very rare syndrome characterized by mesomelic shortness of the forearms, bilateral clubfeet, aplasia or hypoplasia of all nails and severe psychomotor retardation.
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Directly mapped studies only · unique clinical trialsCurrent registry observations. Phase counts may overlap. Study start dates are not registry registration dates. Investigational interventions are not approved-treatment recommendations.
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Ulna hypoplasia-intellectual disability syndrome
Ulna hypoplasia-intellectual disability syndrome is a very rare genetic disorder which is characterized by shortening of the arms associated with ulnar aplasia/hypoplasia, bilateral clubbed feet, widespread nail aplasia/hypoplasia, and severe psychomotor delays with intellectual disabilities. It has only been described in two siblings born to consanguineous Arab parents. It is thought to be inherited in an autosomal recessive manner.
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.