Details of Disease

General Information of Disease (ID: DISXGM26)

• Disease Name: Colobomatous microphthalmia-rhizomelic dysplasia syndrome
• Synonyms: MCSKS; microphthalmia/coloboma and skeletal dysplasia syndrome; microphthalmia, syndromic 14; MCOPS14; microphthalmia and coloboma, with or without rhizomelic skeletal dysplasia; microphthalmia or coloboma with or without rhizomelic skeletal dysplasia; microphthalmia-coloboma-rhizomelic skeletal dysplasia; microphthalmia, syndromic type 14
• Definition: Colobomatous microphthalmia-rhizomelic dysplasia syndrome is a rare, genetic developmental defect during embryogenesis characterized by a range of developmental eye anomalies (including anophthalmia, microphthalmia, colobomas, microcornea, corectopia, cataract) and symmetric limb rhizomelia with short stature and contractures of large joints. Intellectual disability with autistic features, macrocephaly, dysmorphic features, urogenital anomalies (hypospadia, cryptorchidism), cutaneous syndactyly and precocious puberty may also be present.
• Disease Hierarchy:
  DISR3JBJ: Syndromic microphthalmia
  DIS5Z8U6: Skeletal dysplasia
  DISXGM26: Colobomatous microphthalmia-rhizomelic dysplasia syndrome
• Disease Identifiers:
  MONDO ID: MONDO_0014380
  UMLS CUI: C4014540
  OMIM ID: 615877
  MedGen ID: 862977
  Orphanet ID: 424099

Molecular Interaction Atlas (MIA) of This Disease

This Disease Is Related to 1 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
MAB21L2	OTZM5VMX	Definitive	Autosomal dominant	[1]

References

• [1] Technical standards for the interpretation and reporting of constitutional copy-number variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics (ACMG) and the Clinical Genome Resource (ClinGen). Genet Med. 2020 Feb;22(2):245-257. doi: 10.1038/s41436-019-0686-8. Epub 2019 Nov 6.