Hyposmia-nasal and ocular hypoplasia-hypogonadotropic hypogonadism syndrome

Orpha code: 2250OMIM code: 603457

Definition

This syndrome is characterized by the association of severe nasal hypoplasia, hypoplasia of the eyes, hyposmia, hypogeusia and hypogonadotropic hypogonadism.

Disease data
Classification

Disease

Synonyms
Bosma arhinia-microphthalmia syndrome
Zespół Bosma, Henkina i Christiansena
Bosma-Henkin-Christiansen syndrome
ORPHA code
2250
OMIM code
603457
ICD10 code
Q87.0
ICD11 code
-

No additional description.

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