Hand and foot malformations

Gene: ROR2

Green List (high evidence)

Robinow syndrome, autosomal recessive 15 unrelated families with biallelic ROR2 variants; multiple mouse models Homozygous and compound heterozygous (missense, nonsense, deletion) variants resulting in premature stop codons, non-functional protein. Emphasized reported clinical features include abnormal morphogenesis of the face and external genitalia along with short-limbed dwarfism (short stature in 97%) and vertebral/rib segmentation anomalies.

Brachydactyly, type B1 7 unrelated families reported with monoallelic (frameshift, nonsense, splicing) ROR2. One of the most severe types of human brachydactyly the shortening of the digits (hypoplasia/aplasia of distal phalanges and nails).

Created: 31 Aug 2021, 8:30 a.m. | Last Modified: 31 Aug 2021, 8:30 a.m.

Panel Version: 0.9000

Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal

Phenotypes
Robinow syndrome, autosomal recessive MIM# 268310; hypertelorism; short stature; mesomelic shortening of the limbs; hypoplastic genitalia; rib/vertebral anomalies; abnormal morphogenesis of the face; Brachydactyly, type B1 MIM# 113000; hypoplasia/aplasia of distal phalanges and nails (2-5)

Publications

• 10932186
• 10932187
• 10986040
• 19461659