I.

Genetic Diseases

1. LYSOSOMAL STORAGE DISEASES

- There is an accumulation of the metabolite, which would you have
otherwise degraded by the presence of normal levels of specific
enzyme
Disease
Deficient
Metabolite
enzyme
Gaucher Glucocerebr Glucocereb
s
osidase
roside
disease
TayHexosamini
Gangliosid
Sachs
dase
e
Niemma
n-Pick

Sphingomye
linase

Sphingomy
elin

2. GLYCOGEN STORAGE DISEASE

- Deficient in enzyme involved in either glycogen production or
degradation
Disease
Enzyme
deficiency
I Von Gierkes
Glucose-6phosphatase
II Pompes
Acid maltase
disease
III Coris
Glycogen
disease
debrancher
IV Andersens
Glycogen
disease
branching
enzyme
V McArdle
Muscle glycogen
phosphorylase
VI Hers
Liver glycogen
phosphorylase
VII Taruis
Muscle
phosphofructokin
ase
3. Marfans syndrome
- Defective fibrillin type 1
- Clinical findings: tall stature, joints that can hyperextend, and
cardiovascular defects
4. Ehler-Danlos syndrome
- Defective collagen

5. Trisomy 21
- Most common chromosomal disorder
- Oral findings: maroglossia, delayed eruption of teeth and hypodontia
6. Trisomy 13
- Extra copy of chromosome
- Oral findings: cleft lip and palate
7. Trisomy 18
- Extra copy of chromosome
- Oral finding: micrognathia
8. Klinefelters syndrome
- One of the most common causes of male hypogonadism
- 47XXY
- Underdeveloped testes, gynecomastia, and a lower IQ
9. Tuners syndrome
- One of the most important causes of amenorrhea
- No barr body
10.
-

Treacher Collin syndrome

Abnormal development of first and second branchial arches, zygoma,
mandible and malformed ears
Oral findings: small or absent parotid gland and cleft palate

Pierre-Robins syndrome
Commonly seen in patients with Stickler syndrome

11.
12.

Cleidocranialdysostosis