Intellectual disability-hypotonia-brachycephaly-pyloric stenosis-cryptorchidism syndrome
Intellectual disability-hypotonia-brachycephaly-pyloric stenosis-cryptorchidism syndrome is a rare multiple congenital anomalies/dysmorphic syndrome characterized by craniofacial dysmorphism (brachycephaly resulting from craniosynostosis frontal bossing downslanting palpebral fissures large and low-set ears depressed nasal bridge high-arched wide palate thin upper lip) impaired neurological development with intellectual disability hypotonia pyloric stenosis pectus excavatum bilateral cryptorchidism and short stature.
Data from Orphanet are used to provide information on a disease's name, synonym(s), and overview.
Orphadata: Free access data from Orphanet. © INSERM 1999. Available on http: //www.orphadata.org. Data version September 2023.
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Intellectual disability-hypotonia-brachycephaly-pyloric stenosis-cryptorchidism syndrome?
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