Familial scaphocephaly syndrome, McGillivray type

Orpha code: 168624OMIM code: 609579

Definition

Familial scaphocephaly syndrome, McGillivray type is a rare newly described craniosynostosis (see this term) syndrome characterized by scaphocephaly, macrocephaly, severe maxillary retrusion, and mild intellectual disability.

Disease data
Classification

Malformation syndrome

Synonyms
Scaphocephaly-macrocephaly-maxillary retrusion-intellectual disability syndrome
Skafocefalia - makrocefalia - retruzja szczęki - niepełnosprawność intelektualna
ORPHA code
168624
OMIM code
609579
ICD10 code
Q87.0
ICD11 code
LD24.GY

No additional description.

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