Disease Information for Kabuki make-up syndrome
Kabuki make up syndrome, Kabuki make up syndrome (disorder), Kabuki make up syndrome (KMS), KABUKI SYNDROME, Kabuki syndrome (KS), KMS, Niikawa Kuroki syndrome
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Kabuki make up syndrome, Kabuki make up syndrome (disorder), Kabuki make up... (more)
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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Kibuki make-up syndrome;Syndrome is a rare disorder characterized by mental... (more) (edit)
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Demographics & Risk Factors[next]
- Ethnic or Racial Factors
- Population Group
- Population/Pediatrics population
- Sex & Age Groups
- Population/Children/all
- Population/Infant
Clinical Manifestations[previous][top][next]
- Typical Clinical Presentation
- Presentation/Multiple deformities newborn (odd look)
- Presentation/Otitis media/recurrent
- Signs & Symptoms
- Child
- Infant
- Particular physiognomy/Odd looking kids
- Bulbous nose/congenital
- Craniofacial Abnormalities/Congenital
- Lower lip pits
- Prominant Nose
- Premature breast development
- Dermatoglyphic anomalies
- Hypertrichosis
- Low posterior hairline
- Nails hypoplastic/dysplastic
- Penis, small (Micropenis)
- Feeding/swallowing difficulties/infant
- Poor weight gain/child
- High arched palate
- Wide spaced teeth
- Hypotonia
- 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
- Blue sclera sign
- Epicanthal folds
- High arched eybrows
- Long Palpebral Fissures
- Lower lid ectropion/sign
- Ptosis (blepharoptosis)
- Anomalous ears/deformities
- Prominent Ears
- Typical Clinical Presentation
Associated Diseases & Rule outs[previous][top][next]
- Associated Disease & Complications
- Atrial septal defect
- 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
- Scoliosis
- Spina bifida occulta
- Strabismus
- Umbilical hernia
- Ventricular septal defect
- Genital Hypoplasia
- Precocious Puberty
- Metacarpal Anomalies
- Associated Disease & Complications
Disease Mechanism & Classification[previous][top][next]
- Class
- CLASS/Jablonski/NIH Archive Anomalies Database
- CLASS/Pediatric disorders (ex)
- Pathophysiology
- Pathophysiology/Gene locus Xp11
- 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)
- Class
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- Synonym
- Synonym/Niikawa-Kuroki syndrome
- Synonym
External Links Related to Kabuki make-up syndrome[previous][top]
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