ALBINISM – Lack of pigment in the skin, hair and irises. Resource: National Organization for Albinism and Hypopigmentation
AMBLYOPIA, (or lazy eye) – A disorder of the eye that is characterized by poor or blurry vision in an eye that is otherwise physically normal, or out of proportion to associated structural abnormalities.
AMETROPIA – An eye abnormality, such as nearsightedness, farsightedness, or astigmatism resulting from faulty refractive ability of the eye.
ANDROGYNISM – Ambiguous external genitalia.
ANGIOMA – An angioma is a benign tumor that consists of small blood vessels. These tumors can be located anywhere on the body. Some of the different types include: spider angiomas, cherry angiomas, and senile angiomas.
ANOPHTHALMIA and MICROPHTHALMIA – Anophthalmia is a medical term which is used to describe the absence of the globe and ocular tissue from the orbit. The terms anophthalmia and microphthalmia (small eyes) are often used interchangeably since CT Scans or MRI show some remnants of either the globe or surrounding tissue in most cases. Anophthalmia/Microphthalmia (A/M) may affect one eye with the other eye being normal, or both eyes, resulting in blindness.
APROCTIA – imperforate anus.
ARACHNOID – a thin membrane of the brain and spinal cord that lies between the dura mater and the pia mater.
ATELENCEPHALIA – developmental anomaly characterised by imperfect development of the brain; atelencephaly.
CEREBRAL PALSY – Cerebral Palsy is disorder usually caused by brain damage occurring at or before birth and marked by muscular impairment. Often accompanied by poor coordination, it sometimes involves speech and learning difficulties.
CEREBROMA - any abnormal mass of brain substance.
CEREBROMALACIA – Infarction of the brain. Any softening or fragmentation of the brain. Also called encephalomalacia
CLOACAL EXSTROPHY – A birth defect involving the pelvic area that is termed a malformation sequence and involves the cloaca.
CONGENITAL HEART DISEASE – Congenital heart disease (CHD) is a heart–related problem that is present since birth. There are many different kinds of specific congenital heart defects. They may affect various heart structures, such as the valves, the veins leading to the heart, the arteries leaving the heart or the connections among these various parts.
CONGENITAL MEGACOLON – A congenital condition which results in an enlarged and poorly-functioning colon due to abnormal intestinal motility.
CONGENITAL MICROPHTHALMIA – abnormal smallness of the eye usually occurring as a congenital anomaly.
CONGENITAL SCOLIOSIS – Curvature of the spine that is the result of malformations of the vertebral elements.
CORNEAL NEBULA – a slight cloudy opacity of the cornea.
CLEFT LIP – Failure for the upper lip to close during fetal development. The cleft can be uni-lateral 9 one-sided) or bilateral (two-sided) and can range from a small notch to a complete separation extending into he nose.
CLEFT PALATE – Failure of the roof of the mouth to close during fetal development. The opening permits communication between nose and mouth and requires surgery to correct.
CLUB FOOT – A deformity in which one or both feet are twisted out of position.
EPILEPSY – Any of various neurological disorders characterized by disturbed electrical rhythms of the central nervous system and typically manifested by convulsive attacks, usually with clouding of consciousness. Resource: Epilepsy.com
EXOTROPIA – A type of strabimus or eye misalignment. Exotropia refers to an outward deviation of the eyes.
EXTRA FINGERS / TOES – Usually surgically removed, depending on the nature of the extra digit.
HAIRY NEVUS – Darkly pigmented spots or moles which also feature a sometimes dense covering of hair. Resources: Cardinal Glennon; Read a Family Story of a Child with Giant Nevus
HEMANGIOMA – A tissue mass of small blood vessels, also known as a strawberry mark.
HEPATITIS B CARRIER – May be infected but have no symptoms at the time. The carrier could rid himself of the virus completely, continue having asymptomatic infections, or develop active chronic Hepatitis.
HEPATITIS B ACTIVE – Has symptoms and signs of the infection. The virus most frequently causes liver damage. Resources: AETC on Hepatitis B
HYPEROPIA (also known as hypermetropia or colloquially as farsightedness or longsightedness) – A defect of vision caused by an imperfection in the eye (often when the eyeball is too short or when the lens cannot become round enough), causing inability to focus on near objects, and in extreme cases causing a sufferer to be unable to focus on objects at any distance.
HYPOPLASIA – Underdevelopment or incomplete development of a tissue or organ.
HYPOSPADIA – The urethral opening is located on the shaft or base of the penis rather than the tip. Varies in severity. Surgical correction allows for a better cosmetic appearance and normal functioning of the penis. Resource: WebMD on Hypospadia
IMPERFORATE ANUS – Narrow or lack of an anal opening. Surgically correctable.
INGUINAL HERNIA – An inguinal hernia is a painless swelling in the abdominal wall allowing the intestines to bulge outward. Surgically correctable. Resource: The Mayo Clinic
INTERSEX – Having reproductive organs resembling both male and female parts. Resource: Intersex Society of America
LARYNGEAL papilloma – A warty growth in the larynx, usually on the vocal cords.
MEDIASTINUM – the space in the chest between the pleural sacs of the lungs that contains all the viscera of the chest except the lungs and pleurae.
MELANOTIC NEVUS – A spot or mole characterized by black pigmentation. Resources: Cardinal Glennon
MONGLOLIAN SPOT – A bluish pigmented area near the base of the spine that is present at birth.
MICROCEPHALY– A condition of abnormal smallness of the head, usually associated with mental retardation.
MYELATROPHY – atrophy of the spinal cord.
NEPHROBLASTOMA – Wilms’ tumor.
NEUROBLASTOMA – a malignant tumor formed of embryonic ganglion cells.
NEVUS – A congenital growth or mark on the skin, such as a mole or birthmark
NYSTAGMUS – Rapid rhythmic repetitious eye movements. Resource: American Nystagmus Network
OMPHALOCELE – a birth defect in which the infant's intestine or other abdominal organs stick out of the belly button (navel). In babies with an omphalocele, the intestines are covered only by a thin layer of tissue and can be easily seen.
PTOSIS – Abnormal lowering or drooping of the upper eyelid caused by muscle weakness or paralysis. Resource: St. Luke's Institute
RICKETS (Bow legs) – Disruption of normal bone formation caused by a lack of vitamin D. Rickets is a failure to mineralize the bone, which makes the bone soft. Resource: Better Health Channel
SCOLIOSIS – Mild to severe curvature of the spine. Resource: KidsHealth
SOLITARY KIDNEY – Having a single kidney.
SPINA BIFIDA–A congenital defect in which the spinal column is imperfectly closed so that part of the meninges or spinal cord protrudes, often resulting in hydrocephalus (abnormal accumulation of fluid in the cerebral ventricles) and other neurological disorders. Resource: Spina Bifida Association
STRABISMUS – A visual defect in which one eye cannot focus with the other on an object because of imbalance of the eye muscles. www.strabismus.org
TALIPES VARUS – A congenital deformity of the foot in which it is rotated outward so that walking is done on the outer side of the sole.
Tetralogy of Fallot – a form of Congenital Heart Disease.
THALASSEMIA–An inherited form of anemia caused by faulty synthesis of part of the hemoglobin molecule.
UNDESCENDED TESTIS – As a baby boy grows inside his mother's womb, his testicles typically form inside his abdomen and move down into the scrotum shortly before birth. But in some cases, that move doesn't occur and the infant is born with undescended testicles. Resource: KidsHealth
VITILIGO – A skin disease causing the loss of pigmentation in which patients develop white spots in the skin that vary in size and location. The spots occur when pigment cells, or melanocytes, are destroyed and the pigment melanin can no longer be produced. Resource: National Institute of Arthritis and Musculoskeletal and Skin Diseases
WILMS’ TUMOR – a malignant tumor of the kidney that primarily affects children and is made up of embryonic elements.
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