ANE syndrome

Orpha code: 157954OMIM code: 612079

Definicja

A rare, genetic, neuro-endocrino-cutaneous disorder characterized by highly variable degrees of alopecia, moderate to severe intellectual disability, progressive, late-onset motor deterioration and combined anterior pituitary hormone deficiency, manifesting with central hypogonadotropic hypogonadism, delayed or absent puberty, growth hormone deficiency (resulting in short stature), progressive central adrenal insufficiency and a hypoplastic anterior pituitary gland. Additional features include hypodontia, flexural reticulate hyperpigmentation, gynecomastia, microcephaly and kyphoscoliosis.

Disease data
Klasyfikacja

Disease

Synonimy
Alopecia-progressive neurological defect-endocrinopathy syndrome
Zespół łysienia, postępującego defektu neurologicznego i endokrynopatii
Kod ORPHA
157954
Kod OMIM
612079
Kod ICD10
E23.0
Kod ICD11
-

No additional description.

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