microcephaly-facio-cardio-skeletal syndrome, Hadziselimovic type
Findings
No curated finding names microcephaly-facio-cardio-skeletal syndrome, Hadziselimovic type yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
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.
Definition from the Mondo Disease Ontology (MONDO:0013053), read 2026-09-29. CC BY 4.0.
Where it sits
Other names
2 names
Resolves to: microcephaly-facio-cardio-skeletal syndrome, Hadziselimovic type
- Also called
- Hadziselimovic syndromemicrocephaly-faciocardioskeletal syndrome