median cleft

[deb]

i am 21 weeks pregnant, and my baby was diagnosed with median cleft lip today. it is not a unilateral or a bilateral cleft lip. that they confirmed.

the doctors (specialists at childrens & womens hospital) told us today that the median cleft goes through the lip, and into the nostrils, that the tip of the nose is collapsed, that they suspect the cleft goes through to the right eye, that they could not find the right eyeball, and that the eyes from inset to inset were 5 mm too far apart (20 mm and should be 15mm) apparently this is called hypertelorism. everything else on the baby is fine, including the structure of the brain, the heart, feet, hands, spine, etc, etc.

beyond this information we were given absolutely no information. we have been searching the web to learn more. please, if you have information that may help us to learn more of our babies potential problems, let us know. i am having an amnio tomorrow morning, but apparently that cannot diagnose all of the potentially related syndromes. we are also having another ultrasound with the specialists (a perinatologist & geneticist) in two weeks, in which they hope to get a better view of the right side of the baby's face (where they couldn't find the eyeball, and suspect the cleft goes to the right eye).

thanks so much for your help, deb.

[gregory]

Deb,

I am sorry to hear that your baby was diagnosed with median cleft lip.

It is good that you know before birth so that you can prepare. My son was born with Pierre Robin Syndrome; we did not know until he was born.

At this point you will need to consult professionals at a children's hospital near you. You will be prepared and scheduled for things to come from plastic surgeon, to ENT surgeon, to pathologists, to geneticists.

My son received treatment from his first day of life at a children's hospital. Today, there is nothing reminiscent of his condition other than a small trach scar.

It is always good to consult your geneticist about such matters. They have the ability to exclusively define your baby's condition. Below, I have included some links found in the Online Mendelian Inheritance In Men (OMIM).

Regarding the median cleft lip you may want to read the following entries:
CLEFT, MEDIAN, OF UPPER LIP WITH POLYPS OF FACIAL SKIN AND NASAL MUCOSA
Regarding Hypertelorism you may want to read the following entries:
AXENFELD-RIEGER ANOMALY WITH PARTIALLY ABSENT EYE MUSCLES
HYPERTELORISM WITH ESOPHAGEAL ABNORMALITY AND HYPOSPADIAS

OMIM is a very good resource. You may want to look further in their database for similar pathologies as their information base is complete with research, references, chromosome associations, and syndrome relationships. Their target audience are professionals, PCPs, and specialists, but when I was presented with my son's condition my wife and I wanted to know everything; I presume that the same can be assumed about you, given your use of medical terminology.

Also, a good "hub" for genetics information is available through INFOGENETICS.

I do not know where you are located, but I am including some contact information in Virginia:
Childrens' Hospital of the King's Daughters (CHKD)
Dr. William P. Magee Jr. DDS MD FACS

Good luck with your research. Our prayers will be with you.

Regards,
Gregory

[Sarah -guest]

Deb,
We need to talk. I too have a son with a median cleft and hypertelorism.
We are looking at a syndrome right now called Aarskoy syndrome, that both of those are symptoms are in.

Please email me at
sarah@saturnspeed.com

Sarah McQuay
Mommy to John IV, Midline cleft lip, undiagnosed syndrome

[lorabeas]

I have a 2 yr old daughter with many of the diagnosis you mentioned.
Midline cleft lip, complete cleft palate, hypertelorism, visually affected, coloboma in right eye (optic disc), agenesis of the corpus callosum, basal encephalocele, pituitary gland affected (removed), and other midfacial/midbrain anomalies. Please write me back. lorabeas@hotmail.com
(256)757-4593
I would love to speak with you,
My daughter has no definite diagnosis
She has a questionable long diagnosis of "Syndrome of Dysplasia, Callosal Agenesis, Basal Encephalocele, and Eye Anomalies". All genetic and chromosome studies have been normal.
Lora, mom to Meadow, 2 yrs, AL