G¢mez-L¢pez-Hern ndez syndrome

Definicija

Lopez-Hernandez syndrome, which may be classified among the neurocutaneous syndromes, associates abnormalities of the cerebellum (rhombencephalosynapsis), cranial nerves (trigeminal anesthesia), and scalp (alopecia). It has been reported in 11 individuals so far. Other features observed in patients were craniosynostosis, midfacial hypoplasia, bilateral corneal opacities, low-set ears, short stature, moderate intellectual impairment and ataxia. Hyperactivity, depression, self-injurious behaviour and bipolar disorder have also been reported.

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Pun naziv

G¢mez-L¢pez-Hern ndez syndrome

Kratki naziv

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Sinonimi

Cerebellotrigeminal-dermal dysplasia syndrome_x000D_Craniosynostosis-alopecia-brain defect syndrome

Orpha broj

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Podkategorija

Naziv na stranom jeziku

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Prevalenca

NULL

Nasleđivanje

Not applicable

Period početka bolesti

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ICD 10

OMIM

UMLS

GARD

MEDDRA

Tekstualni opis
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Etiologija
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Prognoza
bolest_prognoza
Diferencijalna dijagnoza
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Tretman
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Dijagnostičke metode
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Antenatalna dijagnoza
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Epidemiologija
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Genetsko savetovanje
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Terapija
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Klinička istraživanja
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