Growth failure

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.
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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).
Overall growth failure and/or short stature is not a prominent feature in this monoallelic form.
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Green- Robinow syndrome, autosomal recessive
Red- Brachydactyly, type B1

Created: 31 Aug 2021, 6:12 a.m. | Last Modified: 31 Aug 2021, 6:12 a.m.

Panel Version: 0.368

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