Hypogonadotropic hypogonadism-severe microcephaly-sensorineural hearing loss-dysmorphism syndrome

Orpha code: 293967OMIM code:

Definicja

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.

Disease data
Klasyfikacja

Malformation syndrome

Synonimy
Hypogonadotropic hypogonadism-severe microcephaly-sensorineural deafness-dysmorphism syndrome
Zespół hipogonadyzm hipogonadotropowy-znaczna mikrocefalia-głuchota zmysłowo-nerwowa
Kod ORPHA
293967
Kod OMIM
-
Kod ICD10
-
Kod ICD11
-

No additional description.

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