The cardinal features of the Baller-Gerold syndrome are craniosynostosis and radial aplasia. Cases reported as Baller-Gerold syndrome have phenotypic overlap with several other disorders, including Saethre-Chotzen syndrome. [from OMIM]
Congenital malformations, deformations and chromosomal abnormalities
Congenital malformations and deformations of the musculoskeletal system
Autosomal Recessive
8q24.3
The cardinal features of the Baller-Gerold syndrome are craniosynostosis and radial aplasia. Cases reported as Baller-Gerold syndrome have phenotypic overlap with several other disorders, including Saethre-Chotzen syndrome. [from OMIM]
| Subject ID | Country | Sex | Family History | Parental Consanguinity | HPO Terms | Variant | Zygosity | Mode of Inheritance | Reference | Remarks |
|---|---|---|---|---|---|---|---|---|---|---|
| 218600.1.1 | Lebanon | Male | No | Yes | Intrauterine growth retardation; Absent ... Intrauterine growth retardation; Absent thumb; Poikiloderma; Short stature; Abnormal facial shape; Motor delay; Failure to thrive; Poor appetite; Limb undergrowth; Hypoplasia of the radius; Hypoplasia of the ulna; Generalized bone demineralization  | NM_004260.3:c.3056-2A>C | Homozygous | Autosomal, Recessive | Mégarbané et al. 2000; Van Maldergem et al. 2006 | Parents are first-co... |