Table 6.

Other Genes of Interest in the Differential Diagnosis of Otopalatodigital Spectrum Disorders

Gene Disorder MOI Clinical Features of the Differential Diagnosis Disorder
Overlapping w/X-OPD-SDDifferentiating from X-OPD-SD
AMER1 Osteopathia striata with cranial sclerosis XLIn males: similar skeletal dysplasia to that in OPD2; occasionally, extraskeletal anomalies similar to those in OPD2In females: striations of the long bones, macrocephaly, & deafness; in males: similar skeletal phenotype to OPD2 in males
FLNB Larsen syndrome (LS) & atelosteogenesis type III (AOIII) (see FLNB-Related Disorders)ADSimilar facial features to those in OPD1 & FMD1, cleft palate, hearing loss, spatulate fingers & toesLarge joint dislocations (in both LS & AOIII) & varying degrees of disordered ossification (in AOIII)
MAP3K7 Frontometaphyseal dysplasia type 2ADVery similar to FMD1Very similar to FMD1, although persons w/MAP3K7-FMD are more likely to have cleft palate, scoliosis, cervical fusions, hearing loss, & keloid
NOTCH2 Serpentine fibula-polycystic kidney disease (Hajdu-Cheney syndrome) (OMIM 102500)ADBowing of long bones, especially fibulaAcro-osteolysis, osteopenia, basilar indentation of the skull base. MNS does not incl cystic kidney disease.
SH3PXD2B Frank-ter Haar syndrome (OMIM 249420)ARSkeletal dysplasia similar to but considerably milder than in MNSMacrocornea w/or w/o glaucoma in Frank-ter Haar syndrome
SKI Shprintzen-Goldberg syndrome (SGS)ADSkeletal dysplasia similar to MNS & FMD1 (e.g., tall, square-shaped vertebrae; bowed tibiae; occasionally, fusion of upper cervical vertebrae)ID & craniosynostosis in SGS
TAB2 Frontometaphyseal dysplasia type 3ADVery similar to FMD1Very similar to FMD1, although persons w/TAB2-FMD are more likely to have cleft palate, scoliosis, cervical fusions, hearing loss, & keloid

AD = autosomal dominant; AR = autosomal recessive; FMD = frontometaphyseal dysplasia; FMD1 = frontometaphyseal dysplasia type 1; ID = intellectual disability; MNS = Melnick-Needles syndrome; MOI = mode of inheritance; X-OPD-SD = X-linked otopalatodigital spectrum disorders; XL = X-linked

From: X-Linked Otopalatodigital Spectrum Disorders

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