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.
Search
Pun naziv
G¢mez-L¢pez-Hern ndez syndrome
Kratki naziv
-
Sinonimi
Cerebellotrigeminal-dermal dysplasia syndrome_x000D_Craniosynostosis-alopecia-brain defect syndrome
Orpha broj
Kategorija
Podkategorija
Naziv na stranom jeziku
-
Prevalenca
NULL
Nasleđivanje
Not applicable
Period početka bolesti
-
ICD 10
OMIM
UMLS
GARD
MEDDRA
Tekstualni opis
-
Etiologija
-
Prognoza
bolest_prognoza
Diferencijalna dijagnoza
-
Tretman
-
Dijagnostičke metode
-
Antenatalna dijagnoza
-
Epidemiologija
-
Genetsko savetovanje
-
Terapija
-
Klinička istraživanja
-