Dysmorphism-cleft palate-loose skin syndrome
Dysmorphism-cleft palate-loose skin syndrome is a rare genetic developmental defect during embryogenesis characterized by severe psychomotor delay intellectual disability congenital symmetrical circumferential skin creases of arms and legs cleft palate and facial dysmorphism (incl. elongated face high forehead blepharophimosis short palpebral fissures microphthalmia microcornea epicanthic folds telecanthus microtia posteriorly angulated ears broad nasal bridge microstomia and micrognathia). Additional features reported include short stature microcephaly hypotonia pectus excavatum severe scoliosis hypoplastic scrotum and mixed hearing loss.
Data from Orphanet are used to provide information on a disease's name, synonym(s), and overview.
Reference: Access aggregated data from Orphanet at Orphadata.
Orphadata: Free access data from Orphanet. © INSERM 1999. Available on http://www.orphadata.org. Data version April 2024
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Dysmorphism-cleft palate-loose skin syndrome?
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