SSR4-CDG

od strane | мар 31, 2023 | Bolesti

SSR4-CDG is a form of congenital disorders of N-linked glycosylation characterized by neurologic abnormalities (global developmental delay in language, social skills and fine and gross motor development, intellectual disability, hypotonia, microcephaly,...

Noma

od strane | мар 31, 2023 | Bolesti

Noma is a gangrenous disease that causes severe destruction of the soft and osseous tissues of the face.

Lathosterolosis

od strane | мар 31, 2023 | Bolesti

Lathosterolosis is an extremely rare inborn error of sterol biosynthesis characterized by facial dysmorphism, congenital anomalies (including limb and kidney anomalies), failure to thrive, developmental delay and liver disease.

Aplasia cutis congenita

od strane | мар 31, 2023 | Bolesti

Aplasia cutis congenita (ACC) is a rare skin disorder characterized by localized absence of skin that is usually located on the scalp but can occur anywhere on the body including the face, trunk and extremities. ACC may occasionally be associated with other...

Ameloblastoma

od strane | мар 31, 2023 | Bolesti

Ameloblastoma is a rare, benign, slow-growing odontologic tumor located in the mandible, and on occasion the maxilla, characterized by painless, variable-sized jaw swelling, which if left untreated may lead to a grotesque facial appearance. Occasionally, paresthesias,...

Piebaldism

od strane | мар 31, 2023 | Bolesti

Piebaldism is a rare congenital pigmentation skin disorder characterized by the presence of hypopigmented and depigmented skin areas (leukoderma) on various parts of the body, preferentially on the forehead, chest, abdomen, upper arms, and lower extremities, that are...

ATTRV30M amiloidoza

od strane | мар 20, 2023 | Bolesti, Некатегоризовано

Porodična amiloidna polineuropatija (FAP) ili transtiretinska (TTR) amiloidna polineuropatija je progresivna senzomotorna i autonomna neuropatija sa početkom javljanja u odraslom dobu. Gubitak na kilaži i zahvaćenost srca su česti; mogu se javiti i očne ili bubrežne...