disorders
LADD Syndrome
Lacrimo-auriculo-dento-digital (LADD) syndrome is an extremely rare genetic disorder characterized by abnormalities affecting the lacrimal and salivary glands and ducts, ears, teeth and fingers and toes.
Posted September 23, 2022 by Anusha ‐ 3 min read
⌖ diseases treatments syndromes lacrimo-auriculo-dento-digital-syndrome disorders health levy-hollister-syndrome ladd-syndrome
Papillon Lefevre Syndrome
Papillon-Lefèvre syndrome (PLS) is an extremely rare genetic disorder that typically becomes apparent from approximately one to five years of age. PLS is characterized by the development of dry scaly patches on the skin of the palms and the soles.
Posted September 23, 2022 by Anusha ‐ 3 min read
⌖ diseases treatments syndromes disorders health papillon-lefevre-syndrome
Kallmann Syndrome
Kallmann syndrome is a condition that’s characterized by absent or delayed puberty and a lack or loss of sense of smell. Kallmann syndrome may be accompanied by other symptoms, including hearing loss and cleft palate. The condition is typically treated with hormone replacement therapy.
Posted September 23, 2022 by Anusha ‐ 2 min read
⌖ diseases treatments syndromes disorders health kallmann-syndrome
Peutz Jeghers Syndrome
Peutz-Jeghers syndrome (PJS) is a condition where people develop characteristic polyps and dark-colored spots and have an increased risk of certain types of cancer.
Posted September 23, 2022 by Anusha ‐ 2 min read
⌖ diseases treatments syndromes disorders health peutz-jeghers-syndrome
Congenital Erythropoietic Porphyria
Congenital erythropoietic porphyria (CEP) is a very rare inherited metabolic disorder resulting from the deficient function of the enzyme uroporphyrinogen III synthase (UROS), the fourth enzyme in the heme biosynthetic pathway.
Posted September 23, 2022 by Anusha ‐ 3 min read
⌖ diseases treatments syndromes disorders cep gunther-disease uros-deficiency congenital-erythropoietic-porphyria uroporphyrinogen-iii-synthase-deficiency health