Fine–Lubinsky syndrome is a rare genetic disorder which is characterized by ocular and hearing problems, speech and developmental delay, short stature, intellectual disabilities and facial dysmorphisms.[1]
Although most cases of Fine–Lubinsky syndrome are sporadic, a case report of two siblings with this syndrome was published, suggesting that it is caused by autosomal recessive mutations in the MAF gene.[5]
^"Fine-Lubinsky syndrome - About the Disease - Genetic and Rare Diseases Information Center".
April 13, 2024
fine, lubinsky, syndrome, rare, genetic, disorder, which, characterized, ocular, hearing, problems, speech, developmental, delay, short, stature, intellectual, disabilities, facial, dysmorphisms, specialtymedical, geneticssymptomsfacial, dysmorphy, global, dev. Fine Lubinsky syndrome is a rare genetic disorder which is characterized by ocular and hearing problems speech and developmental delay short stature intellectual disabilities and facial dysmorphisms 1 Fine Lubinsky syndromeSpecialtyMedical geneticsSymptomsfacial dysmorphy global developmental and speech delay and ocular behavioural and hearing problems Usual onsetBirthDurationLife longCausesAutosomal recessive genetic mutationPreventionnoneFrequencyextremely rare Contents 1 Presentation 2 Etiology 3 ReferencesPresentation editSymptoms may vary from person to person but they generally are but are not limited to 2 3 4 Intellectual disabilities of varying degree Congenital hearing loss Congenital cataracts and or glaucoma Brachycephaly Brain abnormalities often leading to behavioral problems Finger abnormalities Cleft palate Flat face Ptosis Long philtrum Small mouth Short nose Microstomia Scrotum hypoplasiaEtiology editAlthough most cases of Fine Lubinsky syndrome are sporadic a case report of two siblings with this syndrome was published suggesting that it is caused by autosomal recessive mutations in the MAF gene 5 References edit Orphanet Fine Lubinsky syndrome Fine Lubinsky syndrome 16 June 2022 Fine Lubinsky syndrome Rare Disease InfoHub Orphanet Ayme Gripp syndrome Fine Lubinsky syndrome About the Disease Genetic and Rare Diseases Information Center Retrieved from https en wikipedia org w index php title Fine Lubinsky syndrome amp oldid 1211723064, wikipedia, wiki, book, books, library,
