Find information on thousands of medical conditions and prescription drugs.

Holoprosencephaly

Holoprosencephaly is a type of Cephalic disorder. This is a disorder characterized by the failure of the prosencephalon (the forebrain of the embryo) to develop. During normal development the forebrain is formed and the face begins to develop in the fifth and sixth weeks of human pregnancy, though the condition also occurs in other species (as with Cy, the Cyclops Kitty). Holoprosencephaly is caused by a failure of the embryo's forebrain to divide to form bilateral cerebral hemispheres (the left and right halves of the brain), causing defects in the development of the face and in brain structure and function. more...

Home
Diseases
A
B
C
D
E
F
G
H
Hairy cell leukemia
Hallermann Streiff syndrome
Hallux valgus
Hantavirosis
Hantavirus pulmonary...
HARD syndrome
Harlequin type ichthyosis
Harpaxophobia
Hartnup disease
Hashimoto's thyroiditis
Hearing impairment
Hearing loss
Heart block
Heavy metal poisoning
Heliophobia
HELLP syndrome
Helminthiasis
Hemangioendothelioma
Hemangioma
Hemangiopericytoma
Hemifacial microsomia
Hemiplegia
Hemoglobinopathy
Hemoglobinuria
Hemolytic-uremic syndrome
Hemophilia A
Hemophobia
Hemorrhagic fever
Hemothorax
Hepatic encephalopathy
Hepatitis
Hepatitis A
Hepatitis B
Hepatitis C
Hepatitis D
Hepatoblastoma
Hepatocellular carcinoma
Hepatorenal syndrome
Hereditary amyloidosis
Hereditary angioedema
Hereditary ataxia
Hereditary ceroid...
Hereditary coproporphyria
Hereditary elliptocytosis
Hereditary fructose...
Hereditary hemochromatosis
Hereditary hemorrhagic...
Hereditary...
Hereditary spastic...
Hereditary spherocytosis
Hermansky-Pudlak syndrome
Hermaphroditism
Herpangina
Herpes zoster
Herpes zoster oticus
Herpetophobia
Heterophobia
Hiccups
Hidradenitis suppurativa
HIDS
Hip dysplasia
Hirschsprung's disease
Histoplasmosis
Hodgkin lymphoma
Hodgkin's disease
Hodophobia
Holocarboxylase...
Holoprosencephaly
Homocystinuria
Horner's syndrome
Horseshoe kidney
Howell-Evans syndrome
Human parvovirus B19...
Hunter syndrome
Huntington's disease
Hurler syndrome
Hutchinson Gilford...
Hutchinson-Gilford syndrome
Hydatidiform mole
Hydatidosis
Hydranencephaly
Hydrocephalus
Hydronephrosis
Hydrophobia
Hydrops fetalis
Hymenolepiasis
Hyperaldosteronism
Hyperammonemia
Hyperandrogenism
Hyperbilirubinemia
Hypercalcemia
Hypercholesterolemia
Hyperchylomicronemia
Hypereosinophilic syndrome
Hyperhidrosis
Hyperimmunoglobinemia D...
Hyperkalemia
Hyperkalemic periodic...
Hyperlipoproteinemia
Hyperlipoproteinemia type I
Hyperlipoproteinemia type II
Hyperlipoproteinemia type...
Hyperlipoproteinemia type IV
Hyperlipoproteinemia type V
Hyperlysinemia
Hyperparathyroidism
Hyperprolactinemia
Hyperreflexia
Hypertension
Hypertensive retinopathy
Hyperthermia
Hyperthyroidism
Hypertrophic cardiomyopathy
Hypoaldosteronism
Hypocalcemia
Hypochondrogenesis
Hypochondroplasia
Hypoglycemia
Hypogonadism
Hypokalemia
Hypokalemic periodic...
Hypoparathyroidism
Hypophosphatasia
Hypopituitarism
Hypoplastic left heart...
Hypoprothrombinemia
Hypothalamic dysfunction
Hypothermia
Hypothyroidism
Hypoxia
I
J
K
L
M
N
O
P
Q
R
S
T
U
V
W
X
Y
Z
Medicines

There are three classifications of holoprosencephaly. Alobar holoprosencephaly, the most serious form in which the brain fails to separate, is usually associated with severe facial anomalies. Semilobar holoprosencephaly, in which the brain's hemispheres have a slight tendency to separate, is an intermediate form of the disease. Lobar holoprosencephaly, in which there is considerable evidence of separate brain hemispheres, is the least severe form. In some cases of lobar holoprosencephaly, the patient's brain may be nearly normal.

Holoprosencephaly, once called arhinencephaly, consists of a spectrum of defects or malformations of the brain and face. At the most severe end of this spectrum are cases involving serious malformations of the brain, malformations so severe that they are incompatible with life and often cause spontaneous intrauterine death. At the other end of the spectrum are individuals with facial defects - which may affect the eyes, nose, and upper lip - and normal or near-normal brain development. Seizures and mental retardation may occur.

The most severe of the facial defects (or anomalies) is cyclopia, an abnormality characterized by the development of a single eye, located in the area normally occupied by the root of the nose, and a missing nose or a nose in the form of a proboscis (a tubular appendage) located above the eye. The condition is also referred to as cyclocephaly or synophthalmia.

In his book Mutants: On the Form, Varieties and Errors of the Human Body , Armand Marie Leroi describes the cause of cyclopia as a genetic malfunctioning during the process by which the embryonic brain is divided into two. Only later does the visual cortex take recognisable form, and at this point an individual with a single forebrain region will be likely to have a single, possibly rather large, eye (at such a time, individuals with separate cerebral hemispheres would form two eyes).

Leroi goes on to state that:

is, in all its manifestations, the most common brain deformity in humans, afflicting 1 in 16,000 live-born children and 1 in 200 miscarried foetuses.

The regular appearance in Western society of such deformed human babies seems to have ceased or been withheld from the public view, probably in part due to the contemporary Western practice of hospitalisation at birth.

On 11 January 2006, Associated Press and other news organisations published photographs of a kitten that was born in Oregon, United States with cyclopia. The kitten's owner expressed surprise at having witnessed such a thing, with some bloggers on the internet expressing disbelief over the authenticity of the photographs published.

Read more at Wikipedia.org


[List your site here Free!]


3-D Ultrasound Helps Identify Abnormalities in Fetal Brain, Spine, Abdomen
From OB/GYN News, 4/1/01 by Judy Glass

MARINA DEL REY, CALIF. -- Three dimensional ultrasound images capture data about the uterus and fetus that are unavailable with standard two-dimensional ultrasound, Dr. Lawrence D. Platt said at a conference on ultrasound and women's health.

The value of 3-D ultrasound to the obstetrician is the ability to visualize, rotate, and view images of the fetus, uterus, and surrounding anatomy on three planes simultaneously, helping identify or confirm abnormalities of the fetus, uterus, or other pelvic organs.

Speakers at the meeting who have participated in early research with 3-D ultrasound endorsed the technology as an important tool to help manage problem pregnancies and prepare for delivery.

Being able to more accurately visualize how some abnormalities will appear after birth also helps families make crucial decisions about the management of pregnancy and prepare for the special needs of the child, said Dr. Platt, chairman of the department of ob.gyn. at Cedars-Sinai Medical Center and professor of ob.gyn. at the University of California, Los Angeles.

In addition, the "wow effect" of the high resolution, sculpturelike images pleases pregnant women and their families, who often want copies of the images to frame or send over the Internet, Dr. Platt said at the meeting sponsored by the American Institute of Ultrasound in Medicine.

Patients like the fact that there is no need to manually move the probe. The 3 D transvaginal or transabdominal transducer scan remains stationary while a built-in "sweep" gathers the data. Imaging can be accomplished in 3 seconds.

Digital storing of the data: makes it available for immediate viewing and for review after the patient has left the office, said Dr. Platt, who believes that 3-D imaging will eventually become an integral part of every obstetrical examination.

In addition to the sagittal and transverse images available with 2-D ultrasound, the third-dimension c-plane helps improve volume measured and provides unique information about the fetus and possible abnormalities in areas such as the following:

* Nuchal translucency. While fetal position can make studies difficult with both standard and 3-D ultrasound, measurements achieved using three planes are more accurate than with two planes, as demonstrated in a recent study of 120 pregnant women. Prenatal measurements of nuchal translucency using 3-D ultra- sound accurately identified all fetuses with congenital abnormalities, but standard ultrasound had only an 85% accuracy rate (J. Perinat. Med. 27[2]:97-102, 1999). Three-dimensional ultrasound, with its midsagittal section of the fetus, provides a clear distinction of the nuchal region from the amniotic membrane that is not as easily obtainable with 2-D ultrasound.

* Fetal brain and cranial structure imaging. Viewing the fetus through the fontanelle using the 3-D endovaginal probe provides an optimal window for imaging fetal brain anatomy, including enlarged ventricles and posterior fossa abnormalities not available with standard ultrasound. The 3-D images of the skull are superior to the conventional 2-D view that is often limited to the cranial sutures due to the natural curvature of the skull.

* Evaluation of the spine. The ability to visualize the fetal spineimage in three or thogonal scan planes enables the detection of vertebrae widening, exact spatial relationships, and the exact level of any spinal defects.

* Cleft lip and palate. These are difficult diagnoses to make with 2-D ultrasound, because the face has a natural curvature that cannot be seen in its entirety. With 3 D ultrasound, these subtle anomalies are projected frontally on an image that can be rotated and analyzed on a computer display screen. Other features of the face, lips, tooth buds, chin, ears, nose, and eyes can also be viewed from different perspectives with 3-D ultrasound.

* Fetal abdominal wall defects. Three-dimensional images capture herniated loops of the small and large intestine associated with gastroschisis, enabling the physician to differentiate gastroschisis from other abnormalities such as bladder exstrophy.

* Placental evaluation. The 3-D display enables visualization of placental changes, including calcifications, placental "lakes," indentations of the chorionic plate, and changes in gray-scale echogenicity. The 3 D display also helps to identify abnormal position, abruption, hematoma, and accreta. This capability is especially helpful in evaluating membranes and other anatomical relationships in twin gestations.

* Umbilical cord assessment. Three dimensional imaging enables easy visualization of the most common abnormality of the umbilical cord, the presence of a single umbilical artery, or "two-vessel cord" as well as the placental insertion. It can help rule out abnormalities associated with the two-vessel cord, such as cardiac defects, holoprosencephaly, skeletal dysplasia, hydrocephalus, omphalocele, and diaphragmatic hernia.

COPYRIGHT 2001 International Medical News Group
COPYRIGHT 2001 Gale Group

Return to Holoprosencephaly
Home Contact Resources Exchange Links ebay