Microcephaly-facio-cardio-skeletal syndrome, Hadziselimovic type

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Synonyms: Hadziselimovic syndrome | Microcephaly-faciocardioskeletal syndrome

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.

Data from Orphanet are used to provide information on a disease's name, synonym(s), and overview. Reference: Access aggregated data from Orphanet at Orphadata. Orphadata: Free access data from Orphanet. © INSERM 1999. Available on http://www.orphadata.org. Data version June 2024

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Microcephaly-facio-cardio-skeletal syndrome, Hadziselimovic type?

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