Details of Disease

General Information of Disease (ID: DIS1JHCE)

• Disease Name: Congenital contractures of the limbs and face, hypotonia, and developmental delay
• Synonyms: CLIFAHDD; CLIFAHDD syndrome; congenital contractures of the limbs and face, hypotonia, and developmental delay; congenital limbs-face contractures-hypotonia-developmental delay syndrome
• Definition: A rare multiple congenital anomalies/dysmorphic syndrome with intellectual disability characterized by severe congenital contractures of the limbs and face, hypotonia, neonatal respiratory distress, and global developmental delay. Dysmorphic facial features include downslanting palpebral fissures, broad nasal bridge, large nares, long philtrum, and deep nasolabial folds, among others. Limb deformities (camptodactyly, clubfoot), short neck, scoliosis, as well as seizures have also been reported. Brain MRI may show cerebral and cerebellar atrophy in some cases.
• Disease Hierarchy:
  DISYKSRF: Genetic disease
  DIS1JHCE: Congenital contractures of the limbs and face, hypotonia, and developmental delay
• Disease Identifiers:
  MONDO ID: MONDO_0014556
  UMLS CUI: C4225398
  OMIM ID: 616266
  MedGen ID: 907234
  Orphanet ID: 562528
  SNOMED CT ID: 1255322002

Molecular Interaction Atlas (MIA) of This Disease

This Disease Is Related to 2 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
KLHL7	OT2OF1O8	Strong	Genetic Variation	[1]
NALCN	OTWY7DS0	Definitive	Autosomal dominant	[2]

References

• [1] Crisponi/cold-induced sweating syndrome: Differential diagnosis, pathogenesis and treatment concepts.Clin Genet. 2020 Jan;97(1):209-221. doi: 10.1111/cge.13639. Epub 2019 Sep 16.
• [2] De novo mutations in NALCN cause a syndrome characterized by congenital contractures of the limbs and face, hypotonia, and developmental delay. Am J Hum Genet. 2015 Mar 5;96(3):462-73. doi: 10.1016/j.ajhg.2015.01.003. Epub 2015 Feb 12.