Interesting Survey Results

Based on on the information gained from the Kabuki Network's website, below you will find some of the results of a survey taken by 200 families of children with KS. Pay close attention to the items marked in red. This is not to point out the hiccups in his development, but rather to show the frequency.. he's not the only one! It's interesting to see the trends in the wide wide world of Kabuki... 

SKIN: Red face rashes: 25% Small nails: 38% Brittle nails: 26% General hirsutism: 23% Café au lait macules: 19% Pygmentary dysplasia: 11% Moles: 36% Chalazion: 6% CRANIOFACIAL: Prominent ears: 87% Low set ears: 42% Prosteriorly Rotated Ears: 21% Pre auricular dimple: 15% Malformed pinnae/ears: 40% Blue sclerae: 51% Long palpebral fissures: 81% Lower palpebral eversion: 49% Arched eyebrows: 70% Lateral thinning: 47% Thick eyelashes: 72% Ptosis: 45% Droopy skin under eyes: 15% Long philtrum: 23% Trapezoid philtrum: 9% Short nasal septum: 34% Flat nasal bridge: 64% Broad nasal root: 34% Epicanthus: 38% Mandibular hypoplasia: 17% Retrognathia: 19% Micrognathia: 26% Overcrowding of Teeth: 19% Widely spaced teeth: 55% Missing teeth: 62% Irregularly spaced teeth: 51% Many cavities: 13% Cleft lip: 4% Cleft palate: 19% Highly arched palate: 79% Submucosal cleft palate: 21% Bifid uvula: 21% Velopharyngeal incompetence: 25% Low posterior hairline: 38% Clogged tear ducts: 25% Pili torti: 8% Nasal tone to speech: 53% Small head size: 40% VISUAL: Sleeps w/ eyes open: 68% Divergent squint: 19% Strabismus: 47% Nystagmus: 11% Esotropia: 19% Exotropia: 8% Amblyopia: 30% Corneal Abnormalities: 9% Near sighted: 26% Far sighted: 30% Cleft optic nerve: 0% Coloboma of the iris: 0% Coloboma of the optic nerve: 2% Optic nerve atrophy: 0% Micro-opthalmia: 2% Astigmatism: 21% Cataracts: 0 % Lens Abnormalities: 4% HEARING: Hearing Loss - Conductive: 32% Hearing Loss - Sensorynueral: 28% Hearing Loss - Progressive: 11% Perforated Ear Drums: 40% RESPIRATORY: Respiratory Infections: 43% Narrow Windpipe: 2% Pulmonary Lymphangiectasia: 2% Tracheomalacia: 4% Laryngo Malacia: 4% Asthma: 11% Reactive Airway Disease: 9% Broncho Pulmonary dysplasia: 2% Bronchiectasis: 6% CARDIAC: Heart murmur: 49% Interrupted aortic arch: 0% Coarctation of aorta: 11% Ventricular septal defect (VSD): 25% Atrial septal defect (ASD): 15% Patent ductus arteriosus (PDA): 6% Double outlet right ventricle: 2% Wolff-Parkinson-White Syndrome: 2% Aortic valve abnormality: 8% Tetralogy of fallot: 2% Pulmonary artery atresia: 0% Mitrial valve abnormality: 4% Aortic hypoplasia: 2% Hypoplastic left heart syndrome: 0% Long QT syndrome: 0% Pulmonic valve abnormality: 2% Anomalous pulmonary venous return: 2% Transposition of great vessels: 0% Atrium abnormalities: 0% Single ventricle: 0% Subclavian vein abnormailities: 0% Arrhythmia: 6% GASTROINTESTINAL: Poor Sucking: 75% Difficulty coordinating breathing, sucking and swallowing: 60% Gags / Vomits while eating: 64% Projectile vomiting: 34% Low esophageal tone: 19% Regurgitation: 23% Reflux: 42% G-Tube: 26%  (gastro intestinal feeding tube) Horizontal Stomach: 0% Enlarged liver: 8% Eventration of the diaphragm: 11% Hernias: 21% Intestinal absorption anomalies: 15% Malrotation of intestines / colon: 4% Imperforate anus: 4% Constipation: 47% Extreme pain while stooling: 25% UROGENITAL: Electrolyte Imbalance: 8% Structural renal abnormalities: 26% Blocked kidney: 8% Missing kidney: 2% Extra kidneys: 4% Pelvic kidney: 6% Fused kidneys: 0% Horseshoe shaped kidney: 8% Enlarged kidney pelvis: 8% Cross fused ectopic kidneys: 2% Hydronephrosis of kidneys: 13% Dual collection system: 8% Kidney stones: 4% Bladder Reflux: 11% Bladder infections: 11% Double urinary tract: 0% Urethral reflux: 6% Urethral abnormalities: 9% One undescended testes: 8% Two undescended testes: 8% Wide set nipples: 25% Umbilical cord abnormalities: 21% Small penis: 13% Hypospadias: 6% Labial adhesion: 6% SKELETAL: Small stature: 74% One side of body smaller than other: 2% Decreased muscle tone: 85% Decreased muscle strength: 62% Increased range of joint motion: 68% Dislocating joints: 25% Osteoporosis: 0% Delayed bone growth: 23% Arthritis: 2% Craniosynostosis: 13% Coronal synostosis: 0% Metopic synostosis: 0% Jaw dislocations: 4% Missing ribs: 4% Other rib anomalies: 4% Pectus carinatum: 4% Pectus excavatum: 19% Other sternum anomalies: 4% Scoliosis: 19% Kyphosis: 9% Cervical spine deformities: 6% Tethered cord: 0% Other spine anomalies: 17% Hip dislocations: 21% Hip dysplasia: 25% Subluxed hips: 17% Kneecap dislocations: 13% Missing knee ligament: 2% Clinodactyly: 47% Short 5th finger: 60% Short phalanges: 47% Extra finger or toes: 0% Webbed finger or toes: 2% Flat footed: 45% Club foot: 2% Pronated feet: 25%

Kabuki... Let Me Brief You

Kabuki syndrome is an anomaly occurring at a rate of 1 in 32,000 children that was first described patients as having had characteristic facial features, anomalies, short stature, flexable joints and in some, mental retardation. Because the facial features
of the patients resembled the make-up of Japanese Kabuki Dancers, the term ‘Kabuki Syndrome’ was suggested.

Patients often have abnormal eyelids, extremely arched eyebrows, hypotonia, thick eyelashes, a depressed nasal tip, can be diagnosed as Failing to Thrive, have short 5^th fingers, are extremely small-statured, organ abnormalities, and prominent ears.

Patients with KS often times show normal growth patterns at birth, but most develop failure to thrive and postnatal growth retardation during the first year of life, which becomes more pronounced with age. Children have the inability to gain weight as a normal child would.

Recently, a study  found that over half of the patients with failure to thrive in infancy went on to develop an increased body mass index or obesity in middle childhood or adolescence which is par for the course with KS.

[source: http://www.sakks.org/news/ks_mini_review.pdf]

Welcome to Kabuki Syndrome!

Just over 1 year ago, our son Cooper was diagnosed with Kabuki Syndrome.  It is our quest in life now to discover and uncover as much as we can about this rare disorder.  We strive to network with those we don't know and educate those who do, and fight Cooper's fight.  You can follow our discoveries and Cooper's progress as we learn more and more about Kabuki Syndrome. 

Stay Posted and Take Care.