====== Congenital Cataract- Stepwise approach to determining etiology ======
Preform History and Physical Examination to Determine if one of the following present
  * Multiple Congenital Anomalies
  * Isolated Ocular Abnormalities
  * One organ system abnormality
  * No other abnormalities
 

==== Congenital Cataracts and Multiple Congenital Anomalies present ====
Do Chromosome Analysis to screen for the following:
  * Trisomy 18
  * Trisomy 21
  * Turner Syndrome
  * Edward Syndrome
  * Partial Trisomy 10q
  * Translocations: 3:4, 2:14, 2:16
  * Cri du Chat syndrome (5q-)
If Chromosome Analysis Normal consider:
  * Hallerman-Strieff syndrome: dental anomalies
  * Schprintzen syndrome: cardiac anomalies
  * Cerebral-oculo-facial syndrome: microcephaly
  * Cockayne syndrome: microcephaly
  * Fetal rubella syndrome: microcephaly
  * Marinesco-Sjögren syndrome: microcephaly
  * [[https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2174447/|Mowat-Wilson syndrome]]
  * Rubenstein-Taybi syndrome: microcephaly
  * [[smith-lemli-opitz_syndrome|Smith-Lemli-Opitz syndrome]]: microcephaly
  * Walker-Warburg syndrome: hydrocephalus
  * Zellweger syndrome: long-chain fatty acids
  * Lowe Syndrome***
 

==== Congential Cataracts and Isolated Ocular Abnormalities ====

  * Aniridia
  * PHPV
  * Uveitis
  * Retinoblastoma
 
==== Congenital Cataracts and one organ system abnormality ====

=== Short stature or limb abnormalities ===
Do skeletal survey to determine:
  * Short limbed dwarfism
    * Camarati-Englemann syndrome
    * Chondrodysplasia punctata
    * Hypochondrodysplasia
    * Kniest syndrome
  * Bony changes
    * Fetal warfarin exposure
    * Mannosidosis
    * Marshall-Stickler syndrome
    * Schwartz-Jampel syndrome
  * Limb anomalities
    * Fetal Varicella infection
    * Klippel-Trenaunay-Weber syndrome
    * Proteus syndrome
    * Roberts syndrome

=== Muscle ===
Myotonic dystrophy: Muscle wasting

=== Aniridia and Wilms Tumor ===

=== Hearing disorder ===
  * Refsum disease
  * Alport syndrome
=== Dental abnormalities ===
May not be noted until teeth erupt 
  * Canine radicomegaly
  * Nance-Horan syndrome (X-linked)
  * Oculo-dental digital syndrome
=== Skin abnormalities ===
  * Focal dermal hypoplasia
  * Gorlin syndrome
  * Incontinentia Pigmenti
  * Rothmund-Thompson syndrome
  * Fabry disease
=== Nail dystrophy ===
  * Clouston syndrome (hidrotic ectodermal dysplasia) OMIM #129500
    * normal sweat and sebaceous gland function
    * total alopecia
    * severe dystrophy of the nails
    * hyperpigmentation of the skin especially over the joints
    * normal teeth
    * strabismus
    * mental deficiency
    * clubbing of the fingers
    * palmar hyperkeratosis
    * extensive kindred of French extraction that migrated to Canada, Scotland, and northern United States
  * Nail-Patella syndrome OMIM #161200
    * dysplasia of the nails
    * absent or hypoplastic patellae (60-90%)
    * abnormality of the elbows interfering with pronation and supination (60-90%)
    * nephropathy
    * hearing loss
    * keratoconus
    * glaucoma, microcornea, microphakia
  * Pachyonychia congenita syndrome OMIM #167200
    * onychogryposis
    * hyperkeratosis of the palms, soles, knees and elbows
    * tiny cutaneous horns in many areas
    * eukoplakia of the oral mucous membranes
    * Hyperhidrosis of the hands and feet
 
==== Congenital Cataracts without any other abnormality ====
Do a screen for the following:
  * CBC: elevated white count 
  * Blood Glucose or HbA1C:  hyperglycemia 
  * RBC Galactokinase serum level: galactosemia
  * TORCH titer
    * IgG (maternal may last 6 months) and consider IgM if signs of inflammation
    * Toxoplasma- IgG +/- IgM 
    * Syphilis- total antibodies with reflex confirmation
    * Rubella- IgG +/- IgM
    * Cytomegalovirus IgG +/- IgM
    * Herpes- HSV 1&2 specific IgG +/- IgM 

If screen above is normal: 
Early onset Cataract genetic testing program by Travere Therapeutics (18 months to 35 years old with infection causes ruled out): [[https://www.preventiongenetics.com/sponsoredTesting/Travere_Cataracts|LINK]] 

Consider Genetics referral if syndrome above suspected


{{tag>cataract}}