Atopic dermatitis facts Atopic dermatitis is a type of eczema. The disease may be inherited and genetically determined. The patient's skin may be "super sensitive" to many irritants. Dry, scaly patches ...

Crouzon syndrome is a rare genetic disorder that may be evident at birth (congenital) or during infancy. The disorder is characterized by distinctive malformations of the skull and facial (craniofacial) region. Such abnormalities may vary greatly ...

Locked-in syndrome is a rare neurological disorder in which there is complete paralysis of all voluntary muscles except for the ones that control the movements of the eyes. Individuals with locked-in syndrome are conscious and awake, but have no a...

Harlequin ichthyosis is a rare genetic skin disorder. The newborn infant is covered with plates of thick skin that crack and split apart. The thick plates can pull at and distort facial features and can restrict breathing and eating. Harlequin inf...

Fraser syndrome is a rare genetic disorder characterized by partial webbing of the fingers and/or toes (partial syndactyly), kidney (renal) abnormalities, genital malformations, and/or, in some cases, complete fusion of the eyelids (cryptophthalmo...

Mucolipidosis IV is a rare inherited metabolic disorder believed to be characterized by a deficiency of transport channel receptor protein, based upon the recent discovery of the Mucolipidosis IV gene. This deficiency may lead to the accumulation ...

Harlequin ichthyosis is a rare genetic skin disorder. The newborn infant is covered with plates of thick skin that crack and split apart. The thick plates can pull at and distort facial features and can restrict breathing and eating. Harlequin inf...

Hay-Wells syndrome, also known as ankyloblepharon-ectodermal dysplasia-clefting (AEC) syndrome, is a rare inherited disorder that belongs to a group of disorders known as the ectodermal dysplasias. Major characteristics of Hay-Wells syndrome inclu...

Harlequin ichthyosis is a rare genetic skin disorder. The newborn infant is covered with plates of thick skin that crack and split apart. The thick plates can pull at and distort facial features and can restrict breathing and eating. Harlequin inf...

Harlequin ichthyosis is a rare genetic skin disorder. The newborn infant is covered with plates of thick skin that crack and split apart. The thick plates can pull at and distort facial features and can restrict breathing and eating. Harlequin inf...

Kabuki syndrome is a rare, multisystem disorder characterized by multiple abnormalities including distinctive facial features, growth delays, varying degrees of intellectual disability, skeletal abnormalities, and short stature. A wide variety of ...

Chromosome 9, Partial Monosomy 9p is a rare chromosomal disorder in which there is deletion (monosomy) of a portion of the 9th chromosome. Characteristic symptoms and findings include mental retardation; distinctive malformations of the skull and ...

Rapp-Hodgkin syndrome, an extremely rare inherited multisystem disorder that is apparent at birth (congenital) or during infancy, belongs to a group of diseases known as ectodermal dysplasias. Ectodermal dysplasias typically affect the skin, teeth...