Microcephaly-facio-cardio-skeletal syndrome, Hadziselimovic type

Orpha code: 217026OMIM code: 612946

Definition

Microcephaly-facio-cardio-skeletal syndrome, Hadziselimovic type is a rare syndrome with cardiac malformations (see this term), 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; see these terms) and skeletal (hypoplastic thumbs and first metacarpals) abnormalities.

Disease data
Classification

Malformation syndrome

Synonyms
Hadziselimovic syndrome
Zespół Hadziselimovica
Microcephaly-faciocardioskeletal syndrome
ORPHA code
217026
OMIM code
612946
ICD10 code
Q87.8
ICD11 code
LD2F.1Y

No additional description.

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