cryptorchidism-arachnodactyly-intellectual disability syndrome
MONDO:0015473
Cryptorchidism-arachnodactyly-intellectual disability syndrome is a rare, multiple congenital anomalies syndrome characterized by psychomotor delay, severe intellectual deficit, severe muscle hypoplasia (with absence of subcutaneous fatty tissue), generalized contractures, craniofacial dysmorphic features (dolichocephaly, esotropia, ears of unequal size, high palate), chest and spinal deformities (i.e. sternum shifted to side, kyphoscoliosis), pulmonary anomalies (unilateral hypoplastic bronchial system), arachnodactyly, and genital abnormalities (cryptorchidism, hypospadias, testicular agenesis). Repeated respiratory tract infections and atelectasis are also associated. There have been no further descriptions in the literature since 1970.
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No clinical trials have been linked to this exact normalized concept in the current published dataset. This is a coverage limitation, not evidence that the condition or medicine has never been studied. Try a synonym or browse registry-reported labels.
Numbers are derived from CureCurrent's current ClinicalTrials.gov projection and conservative MONDO/RxNorm mappings. See sources, counting rules and limitations and verify eligibility or clinical findings with the original study record.
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Cryptorchidism-arachnodactyly-intellectual disability syndrome
Cryptorchidism-arachnodactyly-intellectual disability syndrome is a rare multi-systemic genetic disorder of unknown prevalence which is characterized by psycho-motor developmental delay, severe intellectual disabilities, severe muscle hypoplasia, absence of subcutaneous fat, generalized contractures, dolichocephaly, esotropia, asymmetric ears, and high palate, kyphoscoliosis, unilateral hypoplasia of the bronchial system, recurrent respiratory tract infections, atelectasis, arachnodactyly, cryptorchidism, hypospadias, and testicular agenesis. No new cases have been reported since 1970.
Background only. Canonical identity remains MONDO; clinical-trial relationships come from ClinicalTrials.gov.Drugs being studied
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Disease identity and terminology: MONDO. Trial relationships: ClinicalTrials.gov.