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Delayed external genitalia development, as well as seizures and mitral regurgitation have been reported in some cases. There have been no further descriptions in the literature since 1995.","This syndrome has characteristics of moderate intellectual deficit, brachycephaly, typical facies (thin lips and microstomia), ectomorphic habitus with extremely long, thin fingers and toes and hypoplastic external genitalia. It has been described in three patients.","A rare multiple congenital anomalies/dysmorphic syndrome characterised by facial dysmorphism (brachycephaly, long, narrow, triangular face, prominent forehead, hypertelorism, flat philtrum, microstomia, thin lips, hypoplastic maxilla), marfanoid habitus with arachnodactyly, and moderate to severe intellectual disability. Additional features may include clinodactyly, triphalangeal thumbs, hammer-shaped toes, hyperextensible joints, hypotonia, hyperreflexia and underdeveloped musculature. Delayed external genitalia development, as well as seizures and mitral regurgitation have been reported in some cases. There have been no further descriptions in the literature since 1995."],"subClassOf":["http://purl.bioontology.org/ontology/SNOMEDCT/23359005","http://purl.bioontology.org/ontology/SNOMEDCT/62250003","http://purl.bioontology.org/ontology/SNOMEDCT/1362108000"],"parents":[{"id":"http://purl.bioontology.org/ontology/SNOMEDCT/23359005","synonym":["Multiple malformation syndrome with facial-limb defects as major feature (disorder)"],"notation":"23359005","semanticType":["http://purl.bioontology.org/ontology/STY/T019"],"cui":["C0265244"],"prefLabel":"Multiple malformation syndrome with facial-limb defects as major 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dysmorphism (brachycephaly, long, narrow, triangular face, prominent forehead, hypertelorism, flat philtrum, microstomia, thin lips, hypoplastic maxilla), marfanoid habitus with arachnodactyly, and moderate to severe intellectual disability. Additional features may include clinodactyly, triphalangeal thumbs, hammer-shaped toes, hyperextensible joints, hypotonia, hyperreflexia and underdeveloped musculature. Delayed external genitalia development, as well as seizures and mitral regurgitation have been reported in some cases. There have been no further descriptions in the literature since 1995.","This syndrome has characteristics of moderate intellectual deficit, brachycephaly, typical facies (thin lips and microstomia), ectomorphic habitus with extremely long, thin fingers and toes and hypoplastic external genitalia. It has been described in three patients.","A rare multiple congenital anomalies/dysmorphic syndrome characterised by facial dysmorphism (brachycephaly, long, narrow, triangular face, prominent forehead, hypertelorism, flat philtrum, microstomia, thin lips, hypoplastic maxilla), marfanoid habitus with arachnodactyly, and moderate to severe intellectual disability. Additional features may include clinodactyly, triphalangeal thumbs, hammer-shaped toes, hyperextensible joints, hypotonia, hyperreflexia and underdeveloped musculature. Delayed external genitalia development, as well as seizures and mitral regurgitation have been reported in some cases. 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