Congenital malformations, deformations and chromosomal abnormalities
Other congenital malformations
Autosomal recessive
19q13.2
Carpenter syndrome-2 (CRPT2) is an autosomal recessive multiple congenital malformation disorder characterized by multisuture craniosynostosis and polysyndactyly of the hands and feet, in association with abnormal left-right patterning and other features, most commonly obesity, umbilical hernia, cryptorchidism, and congenital heart disease. [From OMIM]
| Subject ID | Country | Sex | Family History | Parental Consanguinity | HPO Terms | Variant | Zygosity | Mode of Inheritance | Reference | Remarks |
|---|---|---|---|---|---|---|---|---|---|---|
| 614976.1 | Saudi Arabia | Male | Yes | Yes | Abnormal facial shape; Camptodactyly; Sh... 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  | NM_001271938.2:c.3550+3_3550+4dup, NM_001271938.2:c.7270-2A>G | Heterozygous | Autosomal, Recessive | Twigg et al. 2012 | Patient has a simila... |