Macrocephaly-intellectual disability-neurodevelopmental disorder-small thorax syndrome

Orpha code: 457485OMIM code: 616638

Definition

A rare multiple congenital anomalies/dysmorphic syndrome with intellectual disability, characterized by macrocephaly, intellectual disability, seizures, dysmorphic facial features (including tall forehead, downslanting palpebral fissures, hypertelorism, depressed nasal bridge, and macrostomia), megalencephaly, and small thorax. Other reported features are umbilical hernia, muscular hypotonia, global developmental delay, autistic behavior, and café-au-lait spots, among others.

Disease data
Classification

Malformation syndrome

Synonyms
MINDS syndrome
Zespół MINDS
Smith-Kingsmore syndrome
ORPHA code
457485
OMIM code
616638
ICD10 code
-
ICD11 code
-

No additional description.

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