Description of the disease * EnglishPolish Pobierz sekcję do PDF Definicja A rare ectodermal dysplasia syndrome characterized by hypotrichosis of scalp and eyebrows, finger syndactyly, intellectual disability and early eruption of teeth. Facial dysmorphism (i.e. round face with prominent forehead, cheeks and ears, and upward-slanting palpebral fissures), hypoplasia of median and distal phalanges, and kyphosis are additionally observed features. There have been no further descriptions in the literature since 1996. Disease data Klasyfikacja Disease Synonimy Lopes-Marques de Faria syndrome Zespół Lopesa i Marques de Faria Kod ORPHA 2266 Kod OMIM - Kod ICD10 Q82.4 Kod ICD11 - *Soruce Extended description of the disease Pobierz sekcję do PDF No additional description. Orphanet - interntowa baza danych dotyczących rzadkich chorób i sierochych leków. ©INSERM 1999 - Dostępna na stronie www.orphanet.pl