Details of Disease

General Information of Disease (ID: DISP1CK5)

• Disease Name: Palatal anomalies-widely spaced teeth-facial dysmorphism-developmental delay syndrome
• Synonyms: CPRF; cleft palate, psychomotor retardation, and distinctive FACIAL features; cleft palate, psychomotor retardation, and distinctive Facial features; palatal anomalies-multiple diastemata-facial dysmorphism-developmental delay syndrome
• Definition: Palatal anomalies-widely spaced teeth-facial dysmorphism-developmental delay syndrome is a rare, genetic multiple congenital anomalies/dysmorphic syndrome characterized by global developmental delay, axial hypotonia, palate abnormalities (including cleft palate and/or high and narrow palate), dysmorphic facial features (including prominent forehead, hypertelorism, downslanting palpebral fissures, wide nasal bridge, thin lips and widely spaced teeth), and short stature. Additional manifestations may include digital anomalies (such as brachydactyly, clinodactyly, and hypoplastic toenails), a single palmar crease, lower limb hypertonia, joint hypermobility, as well as ocular and urogenital anomalies.
• Disease Hierarchy:
  DISYKSRF: Genetic disease
  DISDOXWZ: Multiple congenital anomalies/dysmorphic syndrome-intellectual disability
  DISP1CK5: Palatal anomalies-widely spaced teeth-facial dysmorphism-developmental delay syndrome
• Disease Identifiers:
  MONDO ID: MONDO_0014751
  UMLS CUI: C4225229
  OMIM ID: 616728
  MedGen ID: 895943
  Orphanet ID: 477993

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
KDM1A	TTNR0UQ	moderate	Biomarker	[1]
KDM1A	TTNR0UQ	Strong	Autosomal dominant	[2]

This Disease Is Related to 1 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
KDM1A	OT85JXS5	Strong	Autosomal dominant	[2]

References

• [1] Gene discovery for Mendelian conditions via social networking: de novo variants in KDM1A cause developmental delay and distinctive facial features.Genet Med. 2016 Aug;18(8):788-95. doi: 10.1038/gim.2015.161. Epub 2015 Dec 10.
• [2] De novo ANKRD11 and KDM1A gene mutations in a male with features of KBG syndrome and Kabuki syndrome. Am J Med Genet A. 2014 Jul;164A(7):1744-9. doi: 10.1002/ajmg.a.36450. Epub 2014 May 16.