Details of Disease

General Information of Disease (ID: DISS03DP)

• Disease Name: Metaphyseal dysplasia-maxillary hypoplasia-brachydacty syndrome
• Synonyms: metaphyseal dysplasia maxillary hypoplasia brachydactyly; MDMHB; metaphyseal dysplasia with maxillary hypoplasia with or without brachydactyly
• Definition: Metaphyseal dysplasia-maxillary hypoplasia-brachydacty syndrome is characterized by metaphyseal dysplasia associated with short stature and facial dysmorphism (a beaked nose, short philtrum, thin lips, maxillary hypoplasia, dystrophic yellowish teeth) and acral anomalies (short fifth metacarpals and/or short middle phalanges of fingers two and five). It has been described in several members spanning four generations of a French-Canadian family. The syndrome is likely to be transmitted as an autosomal dominant trait.
• Disease Hierarchy:
  DIS6SVEE: Syndromic disease
  DIS5Z8U6: Skeletal dysplasia
  DISS03DP: Metaphyseal dysplasia-maxillary hypoplasia-brachydacty syndrome
• Disease Identifiers:
  MONDO ID: MONDO_0007984
  UMLS CUI: C3549874
  OMIM ID: 156510
  MedGen ID: 762788
  Orphanet ID: 2504

Molecular Interaction Atlas (MIA) of This Disease

This Disease Is Related to 2 DTT Molecule(s)

Gene Name	DTT ID	Evidence Level	Mode of Inheritance	REF
RUNX2	TTD6SZ8	Strong	Autosomal dominant	[1]
RUNX2	TTD6SZ8	Strong	Genetic Variation	[2]

This Disease Is Related to 1 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
RUNX2	OT97RQQM	Strong	Autosomal dominant	[1]

References

• [1] Clinical dividends from the molecular genetic diagnosis of craniosynostosis. Am J Med Genet A. 2006 Dec 1;140(23):2631-9. doi: 10.1002/ajmg.a.31366.
• [2] A three-generation family with metaphyseal dysplasia, maxillary hypoplasia and brachydactyly (MDMHB) due to intragenic RUNX2 duplication.Eur J Hum Genet. 2018 Sep;26(9):1288-1293. doi: 10.1038/s41431-018-0166-7. Epub 2018 Jun 11.