Klippel-Trenaunay (K-T) Syndrome is characterized by a localized or diffuse capillary malformation that overlies a venous malformation and/or lymphatic malformation [...]
Marfan syndrome is a genetic disorder that affects the body’s connective tissue. Connective tissue holds all the body’s cells, organs [...]
Miller Syndrome (also known as postaxial acrofacial dysostosis) is an extremely rare genetic condition that involves multiple physical anomalies. The [...]
Moebius syndrome is a neurological disorder characterized by weakness or paralysis (palsy) of multiple cranial nerves, most often the 6th [...]
Myotonic Dystrophy is an inherited condition, and the commonest muscular dystrophy of adult life, affecting around 1 in 8000 adults. [...]
X-linked myotubular myopathy is a rare disorder characterized by weakness of the respiratory muscles causing respiratory distress. In addition, infants [...]
Nager Syndrome (also known as acrofacial dysostosis) is a rare genetic condition involving physical anomolies and some level of hearing [...]
Neurofibromatosis (NF) is a genetic disorder of the nervous system which causes tumors to form on the nerves anywhere in [...]
Nevus (pronounced knee-vus), a Latin word meaning "birthmark," or "mole," is a general term for a congenital mark on the [...]
National Organization for Albinism and Hypopigmentation, NOAH Family Conference
Family Conference, National Organization for Albinism and Hypopigmentation, NOAH
Noonan syndrome (NS) is a variably expressed, multisystem disorder with an estimated prevalence of 1 in 1,000 – 2,500 births. [...]
Pallister-Killian Mosaic Syndrome is a rare chromosomal disorder caused by the presence of four copies of the short arm of [...]
PHACE Syndrome is the uncommon association between large infantile hemangiomas, usually of the face, and birth defects of the brain, [...]
Potocki-Lupski syndrome (PTLS) is a genetic disorder characterized by the presence of an extra copy of a tiny portion of [...]
Prader-Willi syndrome (PWS) is a variable and complex genetic neurobehavioral disorder resulting from abnormality on the 15th chromosome. It occurs [...]
Proteus syndrome is a rare, extremely variable disorder of unknown cause that may be characterized by partial enlargement of the [...]
