Differential Diagnosis

June 25, 2012 in by cherylel

Some disorders share overlapping features with KS [1]. Evaluation of the patient via clinical interview and assessment as well as chromosome analysis is often performed to investigate the causes of clinical findings, such as typical facial features and various congenital defects that are characteristic of KS, but may also appear in other genetic syndromes [2].

Chromosome anomalies on the X chromosome and on chromosome 8 can give rise to symptoms and test results very similar to that of KS.

Turner Syndrome

Some clinical characteristics of KS appear to overlap those of Turner syndrome (TS) [4]. Symptoms overlapping with those seen in KS may include heart defects, short stature, scoliosis, and similar facial features.

22q11 Deletion Syndrome

Children with 22q11 deletion syndrome (Synonyms:  velocardiofacial syndrome, DiGeorge syndrome, CATCH 22) may present with clinical features, such as cleft palate, cardiac malformations, and renal anomalies, all of which can also occur in KS [3]. However, the etiology and pathogenesis of this genetic syndrome are not shared by those found in KS.

Noonan Syndrome

Noonan syndrome involves a complex of symptoms [8], such as congenital heard defects, short stature, feeding difficulties, delay in motor development, and distinctive facial features (philtrum, widely spaced eyes, low-set ears that appear rotated backward) as well as characteristic physical appearance (short neck, sunken/protruding chest, scoliosis) [7].

Hardikar Syndrome

Hardikar syndrome comprises of a combination of obstructive liver disease, cleft lip, cleft palate, long palpebral fissures, eye and urogenital abnormalities [9]. Prolonged hyperbilirubinemia with cleft lip/palate, growth retardation, feeding difficulties,  are feature commonly seen in both KS and Hardikar syndrome [1,6]. However, symptoms such as pigmentary retinopathy or sclerosing cholangitis are not usually seen in individuals with KS.

Charge Syndrome

Individuals with CHARGE syndrome also share some of the same clinical features with KS patients. These include birth defects, such as cleft palate, cardiac malformations, coloboma, and growth retardation. However, typical KS facies and prominent fingertip pads in KS are not seen in Charge syndrome.

van de Woude’s syndrome

van de Woude’s syndrome (VWS) is a genetic condition that result from abnormalities in the development of the face. Children with VWS may present with some of the KS-like facial features, such as cleft lip/palate, lip pits, and hypodontia [3].  However, these individuals do not show symptoms of atypical growth and development, cardiac malformations, or the typical KS facies.


  1. GeneReviews™ [Internet]. Kabuki Syndrome — NCBI Bookshelf;  Available from:  http://www.ncbi.nlm.nih.gov/books/NBK62111. Accessed 22 Feb 2012.
  2. The Swedish Information Centre for Rare Diseases. Kabuki Syndrome — Rare Diseases. Available from:  http://www.socialstyrelsen.se/rarediseases/kabukisyndrome. Accessed 27 Feb 2012.
  3. Adam MP, Hudgins L. Kabuki syndrome: A review. Clin Genet 2005, Mar;67(3):209-19.
  4. Matsumoto N, Niikawa N. Kabuki make-up syndrome: a review. Am J of Med Genet Part C (Semin Med Genet) 117C: 57-65.
  5. Salpietro DC, Guarneri F, Rigoli L, Bruglia S, Guarneri C, Vaccaro M. What syndrome is this? Kabuki make-up syndrome. Pediatric Dermatology 2007;24(3):309.
  6. Schrander-Stumpel CT, Spruyt L, Curfs LM, Defloor T, Schrander JJ. Kabuki syndrome: Clinical data in 20 patients, literature review, and further guidelines for preventive management. Am J Med Genet A 2005, Jan 30;132A(3):234-43.
  7. Genetics Home Reference — Noonan Syndrome. Available from:  http://ghr.nlm.nih.gov/condition/noonan-syndrome. Accessed 22 Sep 2012.
  8. Rare Diseases | National Board and Health and Welfare of Sweden — Noonan Syndrome. Available from:  http://www.socialstyrelsen.se/rarediseases/noonansyndrome. Accessed 22 Sep 2012.
  9. CheckOrphan — Hardikar Syndrome. Available from:  http://www.checkorphan.org/disease/hardikar-syndrome. Accessed 22 Sep 2012.