Risk Factors
Clinical
Lab
Diagnostic
Diseases
Classification
Synonyms
Treatment

Disease Comparison Results (show all mode) For:

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Kabuki make-up syndrome

Found: 92 | Differences: 83

Severe combined immunodeficiency synd/SCID

Found: 135 | Differences: 126

Severe combined immunodeficiency synd/SCID and Kabuki make-up syndrome sharing 9 common findings. ( show all, show common, show differences)

Demographics & Risk Factors
- Ethnic or Racial Factors
  - Japanese population/ethnic stock
- Population Group
  - Population/Pediatrics population
- Sex & Age Groups
  - Population/Children/all
  - Population/Infant
Clinical Manifestations
- Typical Clinical Presentation
  - Presentation/Multiple deformities newborn (odd look)
  - Presentation/Otitis media/recurrent
- Signs & Symptoms
  - Infant
  - Particular physiognomy/Odd looking kids
  - Recurrent URI/Colds/LRI infections
  - 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
  - Foot deformity
  - Hyperextensible joints/laxity/instability
  - Short middle fingers
  - Short nasal septum
  - Incurved/fifth fingers
  - Short fingers/toes (Brachydactyly)
  - Child
  - 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
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
  - 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
Disease Mechanism & Classification
- 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)
Synonyms
- Synonym
  - Synonym/Niikawa-Kuroki syndrome

Demographics & Risk Factors
- Population Group
  - Population/Pediatrics population
- Family History
  - Family history/Immune defects
- Sex & Age Groups
  - Population/Child
  - Population/Child-Infant Only
  - Population/Children/all
  - Population/Infant
  - Population/Male
Clinical Manifestations
- Typical Clinical Presentation
  - Presentation/Lymphopenia candidal diarrhea
- Clinical Presentation & Variations
  - Acute Diarrhea in Children
- Disease Progression
  - Course/Chronic disorder
  - Course/Chronic only
  - Course/Lethal
  - Course/Potentially lethal/untreated
  - Course/Prognosis bad/usually
  - Course/Recurrent
  - Course/Recurrent illness pattern
  - Onset/Six months
- Signs & Symptoms
  - Failure to Thrive Child
  - Fatigue/Tiredness in Children
  - Infant
  - Buttock area rash
  - Rash
  - Acute Diarrhea
  - Chronic Diarrhea in a Child
  - Diarrhea
  - Diarrhea in Children
  - Diarrhea, recurrent
  - Failure to Thrive
  - Failure to thrive/infant sign
  - Poor weight gain/child
  - Weight loss in Children
  - Absent tonsils/infant
  - Absent lymph nodes/infant
  - Cough
  - Cough, chronic
  - Tonsil hypoplasia/absent
  - Child
  - Fever Remittant/Recurrent
  - Fever, intermittant/recurrent
  - Growth/development delay
  - Sickly kid syndrome
  - Weight loss
Laboratory Tests
- Microbiology & Serology Findings
  - Common vaccination antibodies absent/low
  - Microlab/Mitogen lymphocyte response/vitro abnormal
- Abnormal Lab Findings (Non Measured)
  - Chronic lymphopenia
  - DNA/Test specific/genetics laboratory/abnormality (Lab)
  - Lymphocyte low/absent CD3/Normal NK (CD16) (Lab)
  - Lymphocyte phenotype/panel abnormal (Lab)
  - Lymphopenia
- Abnormal Lab Findings - Decreased
  - IGG/Immunoglobulin G (Lab)
  - IGM/Immunoglobulin M (Lab)
- Abnormal Lab Findings - Increased
  - Lymphocytes (Lab)
Diagnostic Test Results
- Other Tests & Procedures
  - Skin test anergy
  - Skin test/DNCB (dinitrochlorobenzene) abnormal
  - Amniocentesis/Abnormality
Associated Diseases & Rule outs
- Associated Disease & Complications
  - Agammaglobulinemia
  - Agammaglobulinemia, acquired
  - Anergic status
  - Cachexia/inanition/wasting
  - Candida albicans infection
  - Candidiasis, cutaneous
  - Cellular immunity defect/deficiency
  - Diaper rash
  - Fungal/Candida endocarditis
  - Giardia infection/intestinal
  - Graft vs host reaction
  - Growth retardation/failure
  - Hypogammaglobulinemia
  - Hypogammaglobulinemia, acquired
  - Immunodeficiency
  - Infections
  - Intestinal/gut lymphoma
  - Nodular lymphatoid hyperplasia/gut
  - Pneumococcus infection
  - Pneumocystis cariini pneumonia
  - Pneumonia, pneumococcal
  - Pneumonia, recurrent
  - Pneumonia, unresolved
  - Pneumonia/Bronchopneumonia
  - Severe combined immunodeficiency syndrome
  - Staphylococcus aureus infection
  - Systemic mycosis/disseminated
Disease Mechanism & Classification
- Class
  - CLASS/Humoral Immune System Disorder (ex)
  - CLASS/Immune System Disorder (ex)
  - CLASS/Pediatric disorders (ex)
  - CLASS/Spleen/thymus/RES/immune system (category)
- Pathophysiology
  - Pathophysiology/Cytokine gene polymorphism
  - Pathophysiology/Fungal infection prone
  - Pathophysiology/Gene locus 11p13
  - Pathophysiology/Gene locus 13q14
  - Pathophysiology/Gene locus 16p13
  - Pathophysiology/Gene locus 19p12
  - Pathophysiology/Gene locus 1q21.1-q21.3
  - Pathophysiology/Gene locus Chromosome 1
  - Pathophysiology/Gene locus Chromosome 13
  - Pathophysiology/Gene locus Chromosome 16
  - Pathophysiology/Gene locus chromosome 19
  - Pathophysiology/Gene locus Chromosome X.
  - Pathophysiology/Gene Locus Identified/OMIM database
  - Pathophysiology/Gene locus Xq13
  - Pathophysiology/Genomic indentifiers (polymorphism/snip/mutations)
  - Pathophysiology/Hereditary variance/ X-linked not always
  - Pathophysiology/Infection resistant to usual treatments
  - Pathophysiology/Absent Waldeyer ring/tonsils/nodes
  - Pathophysiology/Combined T-cell/B-cell immune deficiency
  - Pathophysiology/Decreased T Cells
  - Pathophysiology/Immune physiology/defective
  - Pathophysiology/Immune/cellular system disorder (ex)
- Process
  - PROCESS/Disease with many subtypes (ex)
  - PROCESS/Hereditofamilial (category)
  - PROCESS/Heterogenous group of disorders (ex)
  - PROCESS/Sex-linked (X-linked) recessive inheritance (ex)
  - PROCESS/Variant expressions/Subsets (ex)
  - PROCESS/Immune system disorder (ex)
  - PROCESS/Immune/antibody-antigen system dis. (ex)
  - PROCESS/Immunodeficiency disorder/Primary
Synonyms
- Synonym
  - Synonym/Agammaglobulinemia, Swiss type/SCID variant
  - Synonym/Autosomal recessive SCID syndrome/Variant
  - Synonym/Bare lymphocyte variant/SCID (19p12,16p13,13q14)
  - Synonym/Combined immunodeficiency syndrome/severe
  - Synonym/Lymphopenic agammaglobulinemia
  - Synonym/Reticular dysgenesis/SCID variant
  - Synonym/SCID syndrome
  - Synonym/SCID syndrome with lymphopenia/Variant
  - Synonym/SCID with reticuloendotheliosis (Ommens) variant
  - Synonym/T-cell kinase deficiency/SCID variant
  - Synonym/Thymic alymphoplasia/agammaglobulinemia
  - Synonym/Thymic dysplasia, hereditary
  - Synonym/X-linked progressive combined var. immunodef.
  - Synonym/X-linked recessive SCID syndrome
Treatment
- Drug Therapy
  - RX/Gamma globulin/prophylaxis/low dose
  - RX/Pegademase (Adagen)
  - SX/Bone marrow transplant
  - SX/Stem cell transplant/allogenic
  - SX/Stem-cell transplant

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