Details of Disease

General Information of Disease (ID: DIS75OSO)

• Disease Name: Frank-Ter Haar syndrome
• Synonyms: Melnick-Needles syndrome, autosomal recessive; FTHS; Melnick-Needles syndrome, autosomal recessive, formerly; FRANK-TER Haar syndrome; Borrone dermatocardioskeletal syndrome; megalocornea, multiple skeletal anomalies, and developmental delay; autosomal recessive Melnick-Needles syndrome (formerly); Frank Ter Haar syndrome; Ter Haar syndrome; Borrone di Rocco Crovato syndrome; Frank-Ter Haar syndrome; Borrone Dermatocardioskeletal syndrome
• Definition: A syndrome defined by megalocornea, multiple skeletal anomalies, characteristic facial dysmorphism (wide fontanels, prominent forehead, hypertelorism, prominent eyes, full cheeks and micrognathia) and developmental delay.
• Disease Hierarchy:
  DISP0R2U: Filamin-related bone disorder
  DIS6SVEE: Syndromic disease
  DIS75OSO: Frank-Ter Haar syndrome
• Disease Identifiers:
  MONDO ID: MONDO_0009579
  MESH ID: C537274
  UMLS CUI: C1855305
  OMIM ID: 249420
  MedGen ID: 383652
  Orphanet ID: 137834
  SNOMED CT ID: 720958002

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
SH3PXD2B	OTAOMCDJ	Definitive	Autosomal recessive	[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.