Disease Information for Kabuki make-up syndrome

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Clinical Manifestations
Signs & Symptoms
Particular physiognomy/Odd looking kids
Bulbous nose/congenital
Craniofacial Abnormalities/Congenital
Lower lip pits
Mouth open/characteristic facies
Prominent Nose
Premature breast development
Dermatoglyphic anomalies
Hypertrichosis
Low posterior hairline
Nails hypoplastic/dysplastic
Genital Hypoplasia/Male
Penis, small (Micropenis)
Feeding/swallowing difficulties/infant
Poor weight gain/child
High arched palate
Wide spaced teeth
Hypotonia
Mental Deficiency Child
Seizures
Recurrent URI/Colds/LRI infections
Foot deformity
Hyperextensible joints Laxity Instability
Incurved/fifth fingers
Short fingers/toes (Brachydactyly)
Short middle fingers
Short nasal septum
Short stature
Short stature Child
Epicanthal folds
High arched eybrows
Long Palpebral Fissures
Lower lid ectropion/sign
Ptosis (blepharoptosis)
Anomalous ears/deformities
Prominent Ears
Clinical Presentation & Variations
Presentation/Multiple deformities newborn (odd look)
Presentation/Otitis Media Recurrent
Demographics & Risk Factors
Ethnic or Racial Factors
Japanese population/ethnic stock
Population Group
Child
Infant
Population/Pediatrics population
Sex & Age Groups
Population/Children/all
Population/Infant
Diagnostic Test Results
CT Scan
CT Scan/Head Brain Arachnoid/epidermoid cyst
CT Scan/Head Enlarged brain ventricles
X-RAY
Xray/Short metacarpal bones
Xray/Wrist Odd-shaped Carpal bones
Associated Diseases & Rule outs
Associated Disease & Complications
Anal Atresia
Atrial septal defect
Cleft Lip
Cleft lip/deformity
Cleft palate/deformity
Coarctation of aorta
Congenital anomalies
Congenital heart disease
Cryptorchidism
Deafness, congenital
Facial dysplasia
Growth retardation/failure
Hip dislocation, congenital
Hypoglycemia
Hypospadius anomaly
Imperforate anus
Inguinal Hernia
Kabuki make-up syndrome
Mental retardation
Microcephaly/oligophrenia
Micrognathia/congenital small chin
Multiple Congenital Anomalies
Multiple congenital anomalies/Mental retardation
Patent ductus arteriosis
Preauricula fissure/congenital
Precocious puberty/sexuality female
Renal anomalies
Rib anomalies/Hypoplastic/deformed
Spina bifida occulta
Strabismus
Umbilibal Anomalies
Umbilical hernia
Ventricular septal defect
Genital Hypoplasia
Hand anomalies
Metacarpal Anomalies
Disease Mechanism & Classification
Class
CLASS/Jablonski/NIH Archive Anomalies Database
CLASS/Pediatric disorders (ex)
Pathophysiology
Pathophysiology/Gene locus Xp11
Pathophysiology/Genetic congenital sporadic only
Pathophysiology/Sporadic/hereditary/process
Pathophysiology/Maternal Chromosome mutation
Pathophysiology/Gene locus Xp11.2
Pathophysiology/Gene locus Y11.2
Process
PROCESS/Autosomal dominant hereditary disease (ex).
PROCESS/Eponymic (category)
PROCESS/Genetic disorder/Spontaneous mutations/sporadic
PROCESS/Hereditofamilial (category)
PROCESS/INCIDENCE/Rare disease (ex)
PROCESS/Dystostosis/craniofacial (ex)
Synonyms
Synonym
Kabuki make up syndrome, Kabuki make up syndrome (disorder), Kabuki make up syndrome (KMS), KABUKI SYNDROME, Kabuki syndrome (KS), KMS, Niikawa Kuroki syndrome, Synonym/Niikawa-Kuroki syndrome
Definition

Kibuki make-up syndrome;Syndrome is a rare disorder characterized by mental retardation, short stature, unusual facial features, abnormalities of the skeleton and unusual skin ridge patterns on the fingers, toes, palms of the hands and soles of the feet; The majority of the reported cases of this Kabuki Make-up Syndrome; KMS; Niikawakuroki Syndrome; Kabuki Make-Up disorder have occurred for no apparent reason (sporadic). However, several cases have been reported to be inherited as an autosomal dominant trait (NORD)

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External Links Related to Kabuki make-up syndrome
Google
Wikipedia
Merck
Images
PubMed (National Library of Medicine)
NGC (National Guideline Clearinghouse)
Medscape (eMedicine)
Harrison's Online (accessmedicine)
NEJM (The New England Journal of Medicine)
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