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- Disease Information
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Disease Processes ▼
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Major Organs-Systems ▼
- Systemic
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Disease Information for Kabuki make-up syndrome
- 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
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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)
(Edit)
- External Links Related to Kabuki make-up syndrome
- 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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© 2013 MedTech USA, Inc. (last modified on 05/19/13)
