Details of Disease | DrugMAP

General Information of Disease (ID: DISV348H)

Disease Name	Autosomal recessive Robinow syndrome
Synonyms	Covesdem syndrome, formerly; costovertebral segmentation defect with mesomelia; Covesdem syndrome; Robinow syndrome, autosomal recessive, with Brachy-syn-polydactyly; costovertebral segmentation defect with mesomelia, formerly; Robinow syndrome, autosomal recessive, with aplasia/hypoplasia of phalanges and metacarpals/metatarsals; COVESDEM syndrome; Robinow syndrome, autosomal recessive; RRS; costovertebral segmentation defect-mesomelia syndrome
Definition	Autosomal recessive Robinow syndrome (RRS) is the less common type of Robinow syndrome (RS) characterized by short-limb dwarfism, costovertebral segmentation defects and abnormalities of the head, face and external genitalia.
Disease Hierarchy	DISCPWH9: Autosomal recessive disease DISK1CNU: Robinow syndrome DISV348H: Autosomal recessive Robinow syndrome
Disease Identifiers	MONDO ID MONDO_0009999 UMLS CUI C5399974 OMIM ID 268310 MedGen ID 1770070 Orphanet ID 1507

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)

This Disease Is Related to 1 DTT Molecule(s)

Gene Name	DTT ID	Evidence Level	Mode of Inheritance	REF
ROR2	TTUDPCI	Definitive	Autosomal recessive	[1]
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This Disease Is Related to 2 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
NXN	OT35N40G	Supportive	Autosomal recessive	[2]
ROR2	OTZ8HZCC	Definitive	Autosomal recessive	[1]
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References

1	Phenotypic and mutational spectrum of ROR2-related Robinow syndrome. Hum Mutat. 2022 Jul;43(7):900-918. doi: 10.1002/humu.24375. Epub 2022 May 10.
2	WNT Signaling Perturbations Underlie the Genetic Heterogeneity of Robinow Syndrome. Am J Hum Genet. 2018 Jan 4;102(1):27-43. doi: 10.1016/j.ajhg.2017.10.002. Epub 2017 Dec 21.