Krause Kivlin Syndrome

Definition

Definition of Krause Kivlin Syndrome
A rare genetic disorder characterized by short limb dwarfism, mental retardation and Peters anomaly.

Symptoms

Symptoms of Krause Kivlin Syndrome
The list of signs and symptoms for Krause-Kivlin syndrome includes the 38 symptoms listed below:

1. Mental retardation
2. Growth deficiency
3. Low birth length
4. Round face
5. Prominent forehead
6. Widely spaced eyes
7. Long philtrum
8. Cupid-bow shape of upper lip
9. Thin vermilion border
10. Small ears
11. Malformed ears
12. Small lower jaw
13. Broad neck
14. Preauricular pits
15. Peters anomaly
16. Anterior eye chamber cleavage disorder
17. Nystagmus
18. Glaucoma
19. Central corneal leukoma
20. Central defect of Descemet's membrane
21. Shallow anterior chamber
22. Short limbs
23. Decreased range of elbow motion
24. Broad hands
25. Short hands
26. Broad feet
27. Short feet
28. Fifth finger clinodactyly
29. Cardiac defects
30. Atrial septal defects
31. Ventricular septal defects
32. Pulmonary stenosis
33. Hydronephrosis
34. Duplication of kidneys
35. Undescended testes
36. Infant feeding problems
37. Delayed developmental milestones
38. Impaired vision

Causes

Causes of Krause Kivlin Syndrome
The cause of Peters anomaly is not known; it may be the result of genetic factors, environmental factors, or both. The critical event must arise in the first trimester of pregnancy during the formation of the anterior chamber.

Diagnosis

Diagnosis of Krause Kivlin Syndrome
MRI of the brain and spinal cord; echocardiogram; and ocular ultrasonogram may be performed based on the clinical findings from the physical examination.

Treatment

Treatment of Krause Kivlin Syndrome
Consult with your doctor.

Prognosis

Prognosis of Krause Kivlin Syndrome
Consult with your doctor.

Prevention

Prevention of Krause Kivlin Syndrome
Consult with your doctor.