Microcephaly-facio-cardio-skeletal syndrome, Hadziselimovic type
Microcephaly-facio-cardio-skeletal syndrome, Hadziselimovic type
Definition
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.
Also known as Hadziselimovic syndrome, microcephaly-faciocardioskeletal syndrome — per MONDO