Diseases

Larsen syndrome- dominant type

A congenital, genetic disorder characterized by many abnormalities including joint dislocations, bone abnormalities and an unusual dish-shaped face. The dominant form tends to have less severe dwarfism and more severe flattening of the face and is less likely to include webbed fingers, cleft palate and genital anomalies than the recessive form.

Larsen syndrome- recessive type

A congenital, genetic disorder characterized by many abnormalities including joint dislocations, bone abnormalities and an unusual face.

Laryngeal carcinoma

Laryngeal cancer may also be called cancer of the larynx or laryngeal carcinoma. Most laryngeal cancers are squamous cell carcinomas, reflecting their origin from the squamous cells which form the majority of the laryngeal epithelium. Cancer can develop in any part of the larynx, but the cure rate is affected by the location of the tumor. For the purposes of tumour staging, the larynx is divided into three anatomical regions: the glottis (true vocal cords, anterior and posterior commissures); the supraglottis (epiglottis, arytenoids and aryepiglottic folds, and false cords); and the subglottis.

Laryngeal cleft

Laryngeal cleft is a rare abnormality of the separation between the larynx, or voice box, and the esophagus. When the larynx develops normally it is completely separate from the espophagus, so swallowed foods go directly into the stomach. A laryngeal cleft creates an opening between the larynx and the esophagus so food and liquid can pass through the larynx into the lungs.

Laryngeal papillomatosis

Laryngeal papillomatosis is a form of recurrent respiratory papillomatosis where tumors (papillomas) grow in the larynx (voice box). These tumors can recur frequently, may require repetitive surgery, and may interfere with breathing. The disease can be treated with surgery and antivirals.

Laryngocele

A rare condition where an air-filled sac associated with the larynx becomes dilated.

Laryngomalacia

A defect where the larynx is abnormally soft which affects voice quality and can cause breathing problems. The larynx is so soft that when inhalation occurs, the larynx collapses and obstructs the breathing passage.

Laryngomalacia dominant congenital

A dominantly inherited birth defect where the larynx is abnormally soft which affects voice quality and can cause breathing problems. The larynx is so soft that when inhalation occurs, the larynx collapses and obstructs the breathing passage.

Larynx atresia

A very rare birth disorder where a thin membrane obstructs the laryngeal opening.

Lassueur-Graham-Little syndrome

A very rare disorder characterized by patches of hair loss involving the scalp, armpits, eyebrows and genitals. The hair loss on the scalp is accompanied by scarring of the skin. Hair follicles become eruptive and spiny usually months to years after hair loss.

Late Infantile Neuronal Ceroid Lipofuscinosis

Late infantile neuronal ceroid lipofuscinosis (also known as LINCL, Jansky-Bielschowsky and late infantile CLN2/TPP1 disorder) is part of a group of progressive degenerative neurometabolic disorders known as the ceroid lipofuscinosis neuronal (CLNs). The CLNs are characterized by an abnormal accumulation of lipopigments, which are substances made up of fats and proteins within the brain’s nerve cells, eyes, skin, muscle, and other tissues throughout the body. CLN2 causes nerve cells, found in the brain, retina, and central nervous system, to die. Symptoms typically begin between ages 2 and 4. Early signs may include loss of muscle coordination (ataxia) and seizures that do not respond to drugs. This form progresses rapidly and ends in death between ages 8 and 12. The condition is caused by mutations in the CLN 2 gene which lead to deficient activity of the TPP1 enzyme.

Late-onset congenital adrenal hyperplasia

Late-onset congenital adrenal hyperplasia is listed as a "rare disease" by the Office of Rare Diseases (ORD) of the National Institutes of Health (NIH). This means that Late-onset congenital adrenal hyperplasia, or a subtype of Late-onset congenital adrenal hyperplasia, affects less than 200,000 people in the US population.

Lateral body wall defect

A very rare syndrome characterized involving the absence of the whole or part of an arm or leg as well as a severe defect of the abdominal wall. Death often occurs at birth.

Lateral meningocele syndrome

A rare syndrome characterized mainly by lateral meningoceles (openings in the spinal cord on the inside of the spine) as well as craniofacial anomalies. The syndrome is believed to involve the abnormal development of the spinal cord, cerebellum and cerebral cortex.

Laterality defects dominant

A very rare dominantly inherited disorder that occurs during embryonic development, the earliest stage of pregnancy. Various internal organs or parts of organs can develop in the wrong position in the body.

Lathosterolosis

very rare disorder where an enzyme (sterol C5-desaturase) deficiency prevents the normal synthesis of cholesterol in the body. The deficiency causes various malformations, mental retardation and liver disease .

Lattice corneal dystrophy type 1

A genetic eye disorder where the cornea of the eye develops abnormal, lattice-shaped lines caused by abnormal deposits of a substance called amyloid. There are three different types of corneal dystrophy: type 1 is a dominantly inherited form with an early onset of vision impairment, type 2 is a less severe eye disorder but involves systemic amyloidosis and type 3 is a recessive form that usually starts after the age of 70.

Laugier-Hunziker syndrome

A rare skin abnormality involving flat pigmentated patches of skin on the lips and inside mouth as well as black streaky lines on the nails.

Laurin-Sandrow syndrome

Laurin-Sandrow syndrome is listed as a "rare disease" by the Office of Rare Diseases (ORD) of the National Institutes of Health (NIH). This means that Laurin-Sandrow syndrome, or a subtype of Laurin-Sandrow syndrome, affects less than 200,000 people in the US population.

LBWD syndrome

Ophanet, a consortium of European partners, currently defines a condition rare when if affects 1 person per 2,000. They list Lbwd syndrome as a "rare disease".

LCAD deficiency

A rare inherited genetic condition where the body is unable to convert certain fats to energy i.e. there is not enough of a certain enzyme (3-hydroxyacyl-coenzyme A dehydrogenase) which is needed to metabolize a type of fat called long-chain fatty acids. The build-up of these fatty acids in the body causes damage.