Menke-Hennekam syndrome

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A rare genetic multiple congenital anomalies/dysmorphic syndrome characterized by variable intellectual disability developmental delay autistic behavior short stature and microcephaly. Additional variable manifestations include feeding problems vision and hearing impairments recurrent upper airway infections and epilepsy. Reported malformations are cryptorchidism and cerebral anomalies. Dysmorphic facial features include short and upslanted palpebral fissures ptosis telecanthus depressed nasal ridge short nose anteverted nares short columella and long philtrum.

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 Data version June 2024

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Menke-Hennekam syndrome?

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