Berardinelli's lipodystrophy, also known as Berardinelli-Seip syndrome, describes a rare congenital disorder that causes generalized loss of subcutaneous fat tissue (lipatrophy) from birth on.
Acquired generalized lipodystrophy belongs to the group of mucopolysaccharidoses lysosomal storage diseases, and is associated with the loss of subcutaneous adipose tissue, especially in the face, arms, legs, palms and feet.
Limbal stem cell insufficiency is a rare disease of the limb head in the cornea.
Limb mammary syndrome, or LMS, is a rare form of ectodermal dysplasia.
Lichen Planopilaris describes a rare cutaneous version of Lichen Planus in which the hair follicles show changes.
Lhermitte-Duclos disease is a rare syndrome of cerebellar ganglia cyst formation, leading to enlargement and abnormal development of the cerebellum and increased intracranial pressure.
The leukocyte adhesion defiency syndromes are immune deficiencies that exhibit impaired adhesion of leukocytes, severe leukocytosis, and recurrent infections.
LEOPARD syndrome refers to multiple congenital anomalies, especially of the heart, skin and face.
Lenz-Majewski syndrome is a special and very rare type of hyperostotic dwarfism.
Lennox-Gastaut syndrome is one of the severe childhood epileptic encephalopathies.
Leber hereditary optic neuropathy (LHON) is a rare, chronically damaging mitochondrial hereditary disease, which usually leads within a year to a marked painless reduction in vision or a practical blindness.
Lawrence syndrome, also known as 'acquired generalized lipodystrophy', is characterized by insulin resistance and associated increased cardiovascular risk.
Laryngeal abductor paralysis is a paralysis of the laryngeal musculature, which affects the position and flexibility of the vocal cords.
Lambert-Eaton myasthenic syndrome is an autoimmune disease of the peripheral nervous system. This paraneoplastic neuromuscular disorder inhibits the release of neurotransmitters.
The L1CAM syndrome (also CRASH or L1 syndrome) is caused by a hereditary X-linked developmental disorder.
Short bowel syndrome refers to a congenital or surgical shortening of the intestinal tract to less than 200 cm.
Craniometaphyseal dysplasia is a congenital skeletal disease.
Diagnosis can be confirmed through X-ray, by the observation od massive hyperostosis and sclerosis of all cranial bones and the widening of the clavicles and ribs in the absence of formation of the diaphyses of the long bones. The cortex of patients suffering of the disease is definable and not thickened.
Kostmann syndrome is a hereditary disease in which, too few or no neutrophilic granulocytes are produced in the blood after birth.
The syndrome of corticoid-sensitive abscesses belongs to autoinflammatory diseases.