614976.1

Country

Saudi Arabia

HPO Terms

Abnormal facial shape; Camptodactyly; Short digit; Single transverse palmar crease; Talipes equinovarus; Syndactyly; Patent ductus arteriosus; Cryptorchidism; Global developmental delay; Cutis laxa; Broad neck; Wide intermamillary distance; Pectus excavatum

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Sex

Male

Family History

Yes

Parental Consanguinity

Yes

Subject Variants

Variant Name	Allele Count	Allele Frequency	Associated Disease	Associated Gene
NM_001271938.2:c.3550+3_3550+4dup	1	NA	Carpenter Syndrome 2
NM_001271938.2:c.7270-2A>G	1	NA	Carpenter Syndrome 2

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Remarks

Patient has a similarly affected older brother. Compound heterozygosity of mutations in patient not established and DNA samples from relatives were unavailable for testing.

References

Twigg et al. 2012