Description of the disease * EnglishPolish Pobierz sekcję do PDF Definition A rare genetic disease characterized by intellectual disability, growth delay, absence deformities of upper and lower limbs, hypotrichosis, hypoplastic nails, abnormal dentition, abnormal auricles, hypoplastic nipples, thyroid enlargement, and abnormalities of tyrosine and/or tryptophane metabolism. Hypogonadism and cleft lip have also been reported. No new cases have been confirmed since 1970. Disease data Classification Malformation syndrome Synonyms Freire-Maia syndrome Zespół Freire i Maia ORPHA code 2723 OMIM code 273400 ICD10 code Q82.4 ICD11 code LD27.0Y *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