Hypogonadotropic hypogonadism-severe microcephaly-sensorineural hearing loss-dysmorphism syndrome
Synonyms: Hypogonadotropic hypogonadism-severe microcephaly-sensorineural deafness-dysmorphism syndrome
Hypogonadotropic hypogonadism-severe microcephaly-sensorineural hearing loss-dysmorphism syndrome is a rare non-acquired pituitary hormone deficiency syndrome characterized by severe congenital microcephaly facial dysmorphism (highly arched eyebrows hypertelorism convex nasal ridge protruding ears with underdeveloped superior antihelix crus micrognathia) bilateral sensorineural deafness and hypogonadotropic hypogonadism in association with early feeding problems myopia moderate intellectual disability and moderate short stature.
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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Hypogonadotropic hypogonadism-severe microcephaly-sensorineural hearing loss-dysmorphism syndrome?
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COMBINEDBrain is a consortium for outcome measures and biomarkers for neurodevelopmental disorders. We are collaborating to cure rare, non-verbal brain disorders.
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Curing single-gene disorders
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