Medical Syndromes(Alphabetically)

2.ANDERMANN SYNDROME
-FAMILIAL Progressive Sensorimotor Neuropathy
C/F:-Agenesis of corpus callosum,MR
A/w -Mutation of SLC12A6,a KCl(Potassium Chloride) transporter.

3.ANTLEY-BIXLER SYNDROME
-Trapezoidocephaly-Synostosis Syndrome
C/F:-
-Midface hypoplasia
-Humero-radial Synostosis
-Bowing of femora
-Fractures
-Ambiguous genitalia
Genetics-Inactivating -Mutations in FGFR2

4.APERT SYNDROME
C/F:-
-Tower shaped head
-Syndactyly
-Cleft lip/palate

5.ALPORT'S SYNDROME
-X-linked dominant inheritance
C/F:-
-Renal system
a)Recurrent episodes of Gross hematuria~1-2 days after Acute Respiratory Infection episode.
b)Thinning & Splitting of Glomerular
Basement Membrane.
c)Mild Proteinuria
d)Chronic Glomerulosclerosis

-B/L Sensorineural hearing loss(SNHL)-Never congenital

-Ocular Anamoly=Anterior Lenticonus

Genetics- Mutation in COL4A5 Gene with defect in type 4(alpha5) collagen.
Earliest Manifestation-Asymptomatic microscopic Hematuria.

6.ANGELMANN SYNDROME/HAPPY PUPPET SYNDROME
C/F:-
-Intellectual & Developmental disability.
-Jerky movement(e.g.Flapping of hand)
-Frequent Laughter
-Example of Genomic imprinting

Genetics-Caused by Deletion/Inactivation of genes on the maternally inherited Chromosome 15.