Frank-Ter Haar Syndrome (FTHS)

Alias:

Ter Haar Syndrome

Borrone Dermatocardioskeletal Syndrome

Fths

Autosomal Recessive Melnick-Needles Syndrome

Megalocornea, Multiple Skeletal Anomalies, and Developmental Delay

Melnick-Needles Syndrome, Autosomal Recessive, Formerly

Borrone Di Rocco Crovato Syndrome

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Basic Information

Medical Symptom

Gene & Mutation

Related Drugs

Disease Model

References Literature

Frank-Ter Haar Syndrome, also known as ter haar syndrome, is related to melnick-needles syndrome and megalocornea. An important gene associated with Frank-Ter Haar Syndrome is SH3PXD2B (SH3 And PX Domains 2B), and among its related pathways/superpathways are Signal Transduction and Signaling by Rho GTPases. Affiliated tissues include bone and heart, and related phenotypes are coarse facial features and depressed nasal bridge

Related ID：

MALACARDS：FRN039

OMIM：249420

MESH：C537274