2017年4月13日 · The term '3MC syndrome' encompasses 4 rare autosomal recessive disorders that were previously designated the Carnevale, Mingarelli, Malpuech, and Michels syndromes, respectively. The main features of these syndromes are facial dysmorphism that includes hypertelorism, blepharophimosis, blepharoptosis, and highly arched eyebrows, which are ...

3MC syndrome is a disorder characterized by unusual facial features and problems affecting other tissues and organs. The distinctive facial features of people with 3MC syndrome include widely spaced eyes ( hypertelorism ), a narrowing of the eye opening ( blepharophimosis ), droopy eyelids ( ptosis ), highly arched eyebrows , and an opening in ...

Clinical resource with information about 3MC syndrome 2 and its clinical features, COLEC11, available genetic tests from US and labs around the world and links to practice guidelines and authoritative resources like GeneReviews, PubMed, MedlinePlus, clinicaltrials.gov, PharmGKB

The term '3MC syndrome' encompasses 4 rare autosomal recessive disorders that were previously designated the Carnevale, Mingarelli, Malpuech, and Michels syndromes, respectively. The main features of these syndromes are facial dysmorphism that includes hypertelorism, blepharophimosis, blepharoptosis, and highly arched eyebrows, which are ...

该综合征主要由3个基因的功能丧失变异引起：cul7(1型；omim #273750)、obsl1(2型；omim #612921)和ccdc8(3型；omim #614205) [1,2] 。 大约77.5%的3-M综合征患者是由 CUL7 基因上的变异引起的， OBSL1 基因占16%， CCDC8 基因占不到5%。

3mc综合症2，也被称为眼睑下垂、腹直肌分离和髋关节发育不良，与3mc综合症和眼睑下垂有关，症状包括斜颈。 与3mc综合症2有关的重要基因是COLEC11（Collectin家族成员11），其相关通路/超级通路包括先天免疫系统和补体通路。

The term '3MC syndrome' encompasses 4 rare autosomal recessive disorders that were previously designated the Carnevale, Mingarelli, Malpuech, and Michels syndromes, respectively. The main features of these syndromes are facial dysmorphism that includes hypertelorism, blepharophimosis, blepharoptosis, and highly arched eyebrows, which are ...

2002年3月25日 · Three M syndrome is characterized by severe pre- and postnatal growth deficiency (final height 5-6 SD below the mean; i.e., 120-130 cm), characteristic facies, and normal intelligence.

3mc Syndrome 2, also known as ptosis of eyelids with diastasis recti and hip dysplasia, is related to 3mc syndrome and blepharophimosis, and has symptoms including torticollis An important gene associated with 3mc Syndrome 2 is COLEC11 (Collectin Subfamily Member 11), and among its related pathways/superpathways are Innate Immune System and ...

Online Mendelian Inheritance in Man (OMIM) is a comprehensive, authoritative compendium of human genes and genetic phenotypes that is freely available and updated daily. The full-text, referenced overviews in OMIM contain information on …