OOA (Old Order Amish)

Inheritance: autosomal dominant
Genes: no known gene; chromosomal and DNA aberrations

Kabuki make-up syndrome
KMS
Niikawa-Kuroki syndrome
KS

Mental retardation
Growth retardation
Teeth anomalies
Cardiac defects
Hearing deficits
Long palpebral fissures
Cleft or high-arched palate
Broad and depressed nasal tip
Short fifth fingers

Kabuki Syndrome

Clinical Characteristics

General description (for patients):

This is a congenital mental retardation syndrome which is characterised by distinctive facial features. These include arched eyebrows with sparse, and eversion of the outer half, thick eyelashes, long palpebral fissures (the measurement from the inner to the outer corner of the eye), broad and depressed nasal tip, large, prominent earlobes, a cleft or high-arched palate and short fifth fingers.  Mild mental retardation is common, as are middle ear infections.  Heart defects and short stature are often present.   Kabuki syndrome is a complex syndrome with many features and variations.

Medical description:  

Kabuki syndrome is a dysmorphology syndrome with diverse manifestations.  Currently no specific test is available to diagnose this condition.  The facial morphology is distinctive regardless of ethnic origin.  The name comes form the facial appearance resembling the make-up of Kabuki theatrical performers.  Highly arched, duplicated, and shortened eyebrows with elevation of the lateral third, elongated palpebral fissures, slight eversion of the lower eyelids, broadened and depressed nasal tip, and prominent ears are characteristic.  Spinal deformities, fetal fingertip pads with hypoplastic nails, brachydactyly, and clinodactyly of the fifth finger may be present.  Even though this is a congenital condition, some features evolve over time, making a diagnosis in infancy difficult.   Hypotonia and joint hypermobility are ofen noted.  Postnatal growth deficiency and mild mental retardation are cardinal features.  Cardiac structural and conduction defects are found in nearly a third of patients.  Sensorineural hearing impairment and recurrent otitis media can be a serious problem.  Seizures of various types can occur.

Genetics:

Familial cases have been reported, with some suggestive of an autosomal dominant pattern.  No genetic basis has been established but a variety of chromosomal and DNA aberrations have been reported.  Two cases in Holmes County, OH have been observed.

Treatment: 

There is no cure for Kabuki syndrome; therefore the treatments are focused on managing symptoms and improving quality of life. Options may include sign language training, regular eye examinations and treatment, occupational therapy to improve fine motor skills, and physical therapy to strengthen muscles.

Prognosis:

KS is not typically associated with severe medical complications; therefore it is presumed that the prognosis for survival into adulthood is good. Fertility may not be affected as there have been reports of vertical transmission of KS from both females and males.

Ancillary treatments and support:

Congenital anomalies, such as heart defects may be correctable, and infections, especially otitis media, need to be properly managed.  The tendency to panic and anxiety can by minimized by a calm environment and routine activities.  Physical, speech and sensory integration therapy may be helpful.

Specialists and speciality centers:

Pediatricians, Cardiologists, Physical Therapists

References:

Adam, M.P., and Hudgins, L.:  Kabuki syndrome: a review.  Clin. Genet.  67: 209–219, 2004.  PubMed ID: 15691356

Matsumoto, N., and Niikawa, N.: Kabuki make-up syndrome.  A review.  Am. J. Med. Genet, Part C (Semin. Med. Genet.)  117C: 57–65, 2003.  PubMed ID: 12561059

Wilson, G.N.:  Thirteen cases of Niikawa-Kuroki syndrome: report and review with emphasis on medical complications and preventive management.  Am. J. Med. Genet. 79: 112-120, 1998.  PubMed ID: 9741469

Resources:

Kabuki Syndrome Network
Children's Hospital Boston