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microcephaly-facio-cardio-skeletal syndrome, Hadziselimovic type

Disease Summary
Associated Targets ()

Mondo Description Microcephaly-facio-cardio-skeletal syndrome, Hadziselimovic type is a rare syndrome with cardiac malformations, characterized by prenatal-onset growth retardation (low birth weight and short stature), hypotonia, developmental delay and intellectual disability associated with microcephaly and craniofacial (low anterior hairline, hypotelorism, thick lips with carp-shaped mouth, high-arched palate, low-set ears), cardiac (conotruncal heart malformations such as tetralogy of Fallot) and skeletal (hypoplastic thumbs and first metacarpals) abnormalities.
Mondo Term and Equivalent IDs
MONDO:0013053:  microcephaly-facio-cardio-skeletal syndrome, Hadziselimovic type