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Welcome to the Dubowitz Syndrome Support Network

Medical Terminology

If there is a link as opposed to a definition, it's because there is not a short description for the term.  Please use your back button on your browser to get back should you go offsite.  We would also once again remind you that we are not medical professionals.  The definitions here were mostly found on reputable sites around the internet and in published genetics books and articles.  A major free list of medical definitions is available here.

Acute Lymphatic Leukemia: a rapidly progressing cancer of the blood affecting the type of white blood cells.  This is the most common form of childhood leukemia.

Aplastic Anemia: this form of anemia occurs when the bone marrow ceases sufficient red and white blood cell production.  It is generally unresponsive to specific therapy but there is much ongoing research.

Autosomal recessive

Blepharophimosis: abnormal narrowness of the opening for the eyes between the eyelids in the horizontal direction.

Cryptorchidism (boys): a condition in which either one or both testes (testicles) fails to descend fully into the scrotum.

Developmental Delay: behind schedule in reaching milestones of early childhood development

Dysmorphic Face: this refers to minor facial anomalies that occur fairly frequently and don't pose a significant health risk.  One of these features as an isolated finding in an individual would not be of concern since they occur fairly frequently in the general population.  However, the presence of two or more minor anomalies may prompt a search for major defects and may aid in the diagnosis of a particular syndrome.

Dysplastic Ears: abnormally developed or poorly formed ears - the external part of the ear may not be folded as much as usual or may be pointed.

Eczema: a type of dermatitis, sometimes caused by allergies, may also signal an immunology issue.

Epicanthal Folds: the vertical fold of skin on the inner corner of the eye (on each side of the nose) is excessive and covers the inner corner of the eye.


Failure to Thrive: growth failure, or failure to thrive (FTT), is a descriptive term and not a specific diagnosis. Although definitions vary, most use this term only when growth has been noted to be low or to have decreased over time. Ssome define FTT as height or weight less than the third to fifth percentiles for age on more than one occasion. Others cite height or weight measurements falling 2 major percentile lines using the standard growth charts of the National Center for Health Statistics (NCHS). All agree that only by comparing height and weight on a growth chart over time can FTT be assessed accurately.

Fifth Finger Clinodactyly: permanent deflection (bending) of 'baby' finger.

Gastroesophageal Reflux: return of stomach contents backs up into the esophogus.

High Arched Palate: palate (roof of the mouth) has an unusually high arch.

Hyperopia: farsightedness, easily corrected with glasses or contact lenses.

Hypogammaglobulinmia: condition where the immunoglobulin level is depressed below the normal range.

Hypospadias (boys): the urethra opens on the bottom surface of the penis rather than on the glans.

Hypotonia: decreased tone of the skeletal muscles characterized by weakness and/or floppiness.

IgA Deficient: IgA is a part of the immune system.  A specific blood test is required to determine this.

Inguinal Hernia: abnormal passage of an internal abdominal organ or structure into the inguinal canal.

Intrauterine Growth Retardation: usually less that 10% per gestational age.


Iris Coloboma: some of the structure of the eye is absent, occurs during gestation.

Iris Hypoplasia: incomplete development or underdevelopment of the iris (part of the eye).

Lymphoma: malignant tumour of the lymph glands.

Megalocornea: enlarged rear segment of the eye.

Microcephaly: small head size, usually less that the 25th percentile.

Micrognathia: receding chin, underbite.

Microphthalmia: an unnatural smallness of the eyes.

Neuroblastoma: malignant tumour derived from primitive ganglion cells, mostly a tumour of childhood.  Common sites include the adrenal glands.

Otitis Media: inflamation of the middle ear, sometimes requiring the insertion of ear tubes.

Pes Planus: flat footedness.

Ptosis: drooping of the upper eyelid, eyes may look partially shut as if they are ready to go to sleep.


Sacral Dimple: indentation(s) on the lower back, over the spinal area.

Shallow Supraorbital Ridge: ridge above the eyes, below the eyebrows.

Short Palperbral Fissures: the opening for the eyes between the eyelids.

Submucous Cleft Palate: although the surface layers of the soft palate
(mucous membrane) are complete, the underlying muscle is incomplete.

Syndactyly: fingers or toes (digits) may be fused together (syndactyly) or the webbing between them (inter-digital webbing) may extend far up the digits.

Tapetoretinal Degeneration: primary pigmentary degeneration of the retina.

Telecanthus: increased distance between the inside corner of the eye to the nose.

Velopharyngeal Insufficiency: failure of the soft palate to reach the rear pharyngeal wall.  Causes 'nasal-y' speech.


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