Frank-Ter Haar syndrome

Term ID

DOID:0111789

Synonyms

• autosomal recessive Melnick-Needles syndrome
• Borrone dermatocardioskeletal syndrome
• FTHS
• megalocornea, multiple skeletal anomalies, and developmental delay
• Ter Haar syndrome

Definition

An otopalatodigital syndrome spectrum disorder characterized by megalocornea, multiple skeletal anomalies, characteristic facial dysmorphism (wide fontanels, prominent forehead, hypertelorism, prominent eyes, full cheeks, and micrognathia) and developmental delay that has_material_basis_in homozygous or compound heterozygous mutation in the SH3PXD2B gene on chromosome 5q35.1. (2)

References

• GARD:5138
• MESH:C537274
• OMIM:249420
• ORDO:137834
• SNOMEDCT_US_2023_03_01:720958002
• UMLS_CUI:C1855305

Ontology

Human Disease   ( DOID:0111789 )