SIX2-related frontonasal dysplasia

Orpha code: 488437OMIM code:

Definition

A rare frontonasal dysplasia characterized by a craniofacial phenotype comprising frontal bossing with high anterior hairline, ptosis, hypertelorism, epicanthus inversus, flat nasal bridge, and broad nasal tip. Large anterior fontanelle, sagittal synostosis, and cranial base anomalies have also been described.

Disease data
Classification

Malformation syndrome

Synonyms
SIX2-related FND
SIX2-related FND
ORPHA code
488437
OMIM code
-
ICD10 code
-
ICD11 code
-

No additional description.

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