Skeletal dysplasia

Gene: SH3PXD2B

Green List (high evidence)

The primary characteristics of the Frank-ter Haar syndrome are brachycephaly, wide fontanels, prominent forehead, hypertelorism, prominent eyes, macrocornea with or without glaucoma, full cheeks, small chin, bowing of the long bones, and flexion deformity of the fingers. Protruding, simple ears and prominent coccyx are also regarded as important diagnostic signs.

Borrone syndrome was described as a severe progressive multisystem disorder with features overlapping those of FTHS, including thick skin, acne conglobata, osteolysis, gingival hypertrophy, brachydactyly, camptodactyly, and mitral valve prolapse. Although it was initially thought to be a distinct phenotype, mutations in the FTHS-associated gene SH3PXD2B have been identified in patients diagnosed with Borrone syndrome. The earlier differential description was attributed to phenotypic variability as well as to differences in the ages at which patients were examined.

Multiple families, animal models.

Created: 30 Dec 2021, 9:05 a.m. | Last Modified: 30 Dec 2021, 9:05 a.m.

Panel Version: 0.10417

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Frank-ter Haar syndrome, MIM# 249420

Publications

• 24105366
• 20137777
• 34538861
• 33234702
• 31978614