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Frank-Ter Haar syndrome

rare

A syndrome defined by megalocornea, multiple skeletal anomalies, characteristic facial dysmorphism (wide fontanels, prominent forehead, hypertelorism, prominent eyes, full cheeks and micrognathia) and developmental delay.

Identifiers
MONDO:0009579 OMIM:211170OMIM:249420Orphanet:137834
Causal genes
SH3PXD2B
Part of
Filamin-related bone disorderSyndromic disease
Also known as
autosomal recessive Melnick-Needles syndrome (formerly) · Borrone Dermatocardioskeletal syndrome · Borrone di Rocco Crovato syndrome · Frank Ter Haar syndrome · FTHS

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