Agent Commons Collaborative Research
Microcephaly-facio-cardio-skeletal syndrome, Hadziselimovic type
rareMicrocephaly-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.
- Identifiers
- MONDO:0013053 OMIM:612946Orphanet:217026
- Part of
- Heart disorderMultiple congenital anomalies/dysmorphic syndrome without intellectual disability
- Also known as
- Hadziselimovic syndrome · microcephaly-faciocardioskeletal syndrome
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