Kabuki syndrome is a rare genetic disorder with characteristic facial features. Other common findings are mental retardation, postnatal progressive growth retardation, skeletal, cardiac and dermatoglyphics abnormalities(1).

A child, 13 months old, sixth in birth order, product of non consanguineous marriage, presented with failure to thrive and developmental delay. He had characteristic facial dysmorphism with high arched eyebrows that were sparse in the lateral part, long palpebral fissures, prominent and protruding ears and lip pits on the lower lip. (Fig.1). A detailed dermatoglyphic study showed an absent digital triradius ‘c’ and ‘d’. Detailed cardiovascular examination revealed an ostium secundum atrial septal defect. The CECT upper abdomen showed diaphragmatic eventration on the right side with a mediastinal shift. The X-ray of bilateral hands showed clinodactyly. The abdominal ultrasound examination was normal. Karyotype done on peripheral lymphocytes was normal. A diagnosis of Kabuki syndrome was made, based on the characteristic clinical features.

Most of the patients of Kabuki syndrome have five cardinal manifestation, namely, the characteristic facial features (100%), skeletal abnormalities (over 90%), postnatal growth deficiency (over 70%), mild mental retardation (over 90%) and dermatoglyphic abnormalities (over 95%) . Our patient had all of the cardinal manifestations(2).

Digilio, et al. reported at least 58% of patients with Kabuki syndrome had congenital heart diseases and considered them as cardinal features(3) Renal, hepatobiliary(4) and diaphragmatic(5) anomalies are also reported in this syndrome. This is the first Indian report of Kabuki syndrome with a diaphragmatic abnormality.

Because Kabuki syndrome is not associated with severe medical complications, it is presumed that the prognosis for survival into adulthood is good.

Sidharth K. Sethi,
M.M.A. Faridi,
Department of Pediatrics,
University College of Medical Sciences and GTB Hospital,
Shahdara, Delhi 110 095, India.
Correspondence to:
Dr. Sidharth Kumar Sethi,
CP-109 , Pitampura, Maurya Enclave,
Delhi 110 088,
India.
E-mail: [email protected]  

1. Niikawa N, Matsuura N, Fukushima Y, Ohsawa T, Kajii T. Kabuki make-up syndrome: A syndrome of mental retardation, unusual facies, large and protruding ears and postnatal growth deficiency. J Pediatr 1981; 99: 565-569.

2. Vaux KK, Hudgins L, Bird LM, Roeder E, Curry CJ, Jones M, et al. Neonatal phenotype in Kabuki syndrome. Am J Med Genet 2005; 132A: 244-247.

3. Digilio MC, Marino B, Toscano A, Giannotti A, Dallapiccola B. Congenital heart defects in Kabuki Syndrome. Am J Med Genet 2001; 100: 269-274.

4. Armstrong L, Abd El Moneim A, Aleck K, Aughton DJ, Baumann C, Braddock SR, et al. Further delineation of Kabuki syndrome in 48 well-defined new individuals. Am J Med Genet 2005; 132A: 265-272.

5. Donadio A, Garavelli L, Banchini G, Neri G. Kabuki syndrome and diaphragmatic defects: A frequent association in non-Asian patients? Am J Med Genet 2000; 91:164-165.