Glossary for Short philtrum

Medical terms related to Short philtrum or mentioned in this section include:

• 14q+ syndrome: A rare chromosomal disorder involving duplication of genetic material from the long arm (q) of chromosome 14 resulting in various abnormalities.
• 3q deletion: A rare chromosomal disorder where part of the long arm (q) of chromosome 3 is deleted resulting in various abnormalities which are determined by the size of the deleted portion.
• 4p16.3 deletion: A rare genetic disorder where a portion of chromosome 4 is deleted at a location called 16.3. The condition is characterized by malformations in most parts of the body as the deletion affects growth and development of the fetus.
• Acrocallosal syndrome: A rare genetic disorder characterized by underdeveloped or absent corpus callosum of brain, duplication of thumb or big toe and extra fingers or toes.
• Breath symptoms: Breath-related symptoms including breath odor
• Breathing symptoms: Symptoms affecting the breathing systems.
• Char syndrome: A very rare genetic disorder characterized mainly by an unusual facial appearance, abnormal little fingers and a heart abnormality.
• Chromosome 10p deletion syndrome: A rare chromosomal disorder where there is a deletion of the short arm (p) of chromosome 10 resulting in variable abnormalities.
• Chromosome 14 uniparental disomy syndrome: A rare chromosomal disorder where two homologues are obtained from one parent.
• Chromosome 15 inverted duplication: A rare chromosomal disorder involving an duplicated section of chromosome 15 which is reversed end-to-end resulting in various abnormalities.
• Chromosome 19q, partial duplication: A rare chromosomal disorder where the long arm of chromosome is triplicated. The type and severity of symptoms is determined by the size of the duplicated genetic portion.
• Chromosome 22q deletion: A rare genetic disorder where a portion of the genetic material from the long arm of chromosome 22 is missing. The symptoms or severity may vary somewhat between patients.
• Chromosome 22q deletion syndrome: A rare chromosomal disorder where the long arm of chromosome 22 is deleted resulting in various abnormalities.
• Chromosome 4 Ring: A rare chromosomal disorder where the ends of chromosome 4 have been deleted and the two broken ends have rejoined to form a ring shape resulting in a range of symptoms determined by the size and location of the genetic deletion.
• Chromosome 4 ring syndrome: A rare chromosomal disorder where the ends of chromosome 4 have been deleted and the two broken ends have rejoined to form a ring shape resulting in a range of symptoms determined by the size and location of the genetic deletion.
• Chromosome 4p deletion syndrome: A rare chromosomal disorder where part or all of the short arm (p) of chromosome 4 is deleted resulting in various abnormalities which are determined by the size of the deleted portion.
• Chromosome 4q duplication syndrome: A rare chromosomal disorder involving duplication of the long arm (q) of chromosome 4 which results in various abnormalities depending on the size and location of the portion of duplicated genetic material.
• Chromosome 6p deletion syndrome: A rare chromosomal disorder where part or all of the short arm (p) of chromosome 6 is deleted resulting in various abnormalities which are determined by the size of the deleted portion.
• Chromosome 6q duplication syndrome: A rare chromosomal disorder involving duplication of the long arm (q) of chromosome 6 which results in various abnormalities depending on the size and location of the portion of duplicated genetic material.
• Cohen Syndrome: A rare genetic disorder characterized by reduced muscle tone, obesity and prominent front teeth.
• Complex 5 mitochondrial respiratory chain deficiency: A rare genetic defect where an enzyme deficiency (ATP synthetase) disrupts cellular processes. Any of a variety of the components of the enzyme may be missing or defective and hence the clinical presentation and severity may vary. The deficiency may result in a variety of symptoms and conditions of variable severity such as Leber's myopathy, Leigh syndrome, cardiomyopathy and NARP (neuropathy, ataxia, retinitis pigmentosa).
• Developmental problems: Physical or mental development difficulty.
• DiGeorge syndrome: 22q11.2 deletion syndrome is a genetic disorder which can result in a vast array of symptoms. Various names have been used to describe different manifestations of the syndrome. Di George Syndrome primarily involves an underdeveloped thymus and parathyroid glands which results in lowered immunity low blood calcium levels respectively. Another primary feature is heart defects. Various other variable features are also present. It is not uncommon for patients to have more than one of the 22q11.2 deletion syndrome subtypes which can make diagnosis confusing - other subtypes include Sphrintzen syndrome, Caylor cardiofacial syndrome and CATCH 22.
• Ectodermal dysplasia, sensorineural hearing loss, and distinctive facial features: A rare disorder characterized by hearing impairment, facial and hair anomalies.
• Face symptoms: Symptoms affecting the face
• Fetal alcohol syndrome: A condition which occurs in a new born fetus and is caused by the mother consuming excess alcohol during her pregnancy
• Floating Harbor Syndrome: A rare genetic disorder characterized by growth deficiency, typical facial appearance and speech delay.
• Head symptoms: Symptoms affecting the head or brain
• Lip symptoms: Symptoms affecting one or both lips.
• Mouth symptoms: Symptoms of the mouth or oral area.
• Multiple synostosis syndrome: A rare genetic disorder characterized by multiple bone fusions involving the face, limbs and middle ear.
• OFD syndrome type 8: A rare genetic disorder characterized by oral frenula, oral clefts, underdeveloped nose flaps and finger abnormalities.
• Respiratory symptoms: Symptoms affecting the breathing systems.
• Rieger Syndrome: A rare genetic disorder characterized by underdeveloped or absent teeth and craniofacial and eye abnormalities.
• Short philtrum in children: Short philtrum in children refers to a child who has an unusually short groove in the skin between the upper lip and the nose.
• Skeletal symptoms: Symptoms affecting the skeletal system such as the bones.
• Skull symptoms: Symptoms affecting the skull surrounding the brain.
• Throat symptoms: Symptoms affecting the throat
• WAGR Syndrome: A syndrome that is due to the deletion of chromosome 11.
• Wilms tumor -- aniridia -- genitourinary anomalies -- mental retardation: A syndrome resulting from deletion of genetic material from chromosome the short arm of chromosome 11 (11p13). The characteristic symptoms are partial or complete absence of iris, genitourinary anomalies, mental retardation and Wilms' tumor. The specific range and severity of symptoms is variable depending on the size and exact location of the genetic material that is missing.
• Yunis Varon syndrome: A multisystem genetic disease that affects the skeletal system in particular

Conditions listing medical symptoms: Short philtrum:

The following list of conditions have 'Short philtrum' or similar listed as a symptom in our database. This computer-generated list may be inaccurate or incomplete. Always seek prompt professional medical advice about the cause of any symptom.

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