Marion:

Inheritance is AUTOSOMAL RECESSIVE, caused by mutations in ESCO2.

1.- RECURRENCE RISK:

1a.- Patient's sib: 25%
1b.- Patient's offpring: not increased (not surviving to reproduction in severe cases)

To understand the "25% risk" , go inside the index web and make clik in "WHAT HAPPENS WHEN OUR RECIPES COMBINE WITH OUR PARTNER'S RECIPES".......page 3: disorders....autosomal....recessive, option B.


2.- PRENATAL DIAGNOSIS FOR PREGNANCIES AT RISK:

2a.- Ultrasonography, looking for:

* Bilateral phocomelia or tetraphocomelia of varying degree.
* Cleft lip and palate
* Intrauterine growth retardation
* Asociate anomalies: hydrocephalus, congenital heart defects, renal anomalies.


2b.- Cytogenetics, looking for:

* Premature centromere separation in chorionic villi and amniocytes in the fetus.

To get more information go to the index web and make clik on: PRENATAL DIAGNOSIS TECHNIQUES: windows:....... "Chorion biopsy", "Amniocentesis", "Ultrasound", and "Maternal blood".



3.- MANAGEMENT:

* Special education
* Cornea grafting
* Corrective surgery: cleft lip/palate; limb defects
* Prosthetic devices. for underdeveloped or missing limbs

We also recomended you to take a look at:
QUESTIONS numbers: 1, 2, 3, 9, 21, 24

AND PLEASE, regardless of all the information you get on the subject of your interest, do not forget that it is only an information service, containing data that must be interpreted by a specialist, so please before you make any decision, HAVE A CONSULTATION WITH A GENETICS DEPARTMENT, where your individual case will be accurately assessed and where all your questions will be answered.

Best wishes.
Maite Solé