The Giroux Barbeau syndrome is also called Erythrokeratodermia with ataxia.This disease is caused by pathogenic variants in any of the gens that occur at random patterns or by hereditary patterns. In hereditary patterns, there are autosomal dominant or autosomal recessive patterns. In the autosomal dominant pattern, a single copy of the non-working gene can cause the disease; this non-  Read More

Associated symptoms and signs vary greatly in range and severity from case to case. The principal features of Hallermann-Streiff syndrome include abnormalities of the skull (cranium) and certain bones of the face (known as dyscephaly); distinctive facial features; ocular defects; dental anomalies; and/or proportionate short stature. In many cases, additional abnormalities are also present. Many affected infants have an unusually shaped  Read More

Associated symptoms and signs vary greatly in range and severity from case to case. The principal features of Hallermann-Streiff syndrome include abnormalities of the skull (cranium) and certain bones of the face (known as dyscephaly); distinctive facial features; ocular defects; dental anomalies; and/or proportionate short stature. In many cases, additional abnormalities are also present. Many affected infants have an unusually shaped  Read More

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 additional symptoms affecting multiple different organ systems can potentially occur. The specific symptoms associated with Kabuki syndrome can vary greatly from one person to another. The exact cause  Read More