/linear skin defects with multiple congenital anomalies

linear skin defects with multiple congenital anomalies

Rare Disease

MONDO:0010672

Also Known As

MCOPS7MIDAS syndromeMLS syndromelinear skin defects with multiple congenital anomalieslinear skin defects with multiple congenital anomalies type 1microphthalmia with linear skin defects syndromemicrophthalmia-dermal aplasia-sclerocornea syndromesyndromic microphthalmia type 7LSDMCA1Micropthalmia syndromic 7linear skin defects with multiple congenital anomalies 1microphthalmia dermal aplasia and sclerocornea syndrome

Definition

A genetic condition that affects the eyes and skin. It is mainly found in females and is characterized by small or poorly developed eyes (microphthalmia) and characteristic linear skin markings on the head and neck. The signs and symptoms of this condition may include abnormalities of the brain, heart, and genitourinary system. Other symptoms may include short stature, developmental delay, and finger and toenails that do not grow normally (nail dystrophy). MLS syndrome is typically caused by either a deletion of certain genetic material on the p (short) arm of the X chromosome or by a mutation in the HCCS gene. In some cases, it may be caused by mutations in the COX7B and NDUFB11 genes, (also located on the X chromosome). According to the mutated gene, the disease may be classified in three subtypes. This condition is inherited in an X-linked manner and is thought to result in serious early developmental concerns in males, leading to almost no males with this condition surviving to delivery.Although there is no specific treatment or cure for MLS syndrome, there may be ways to manage the symptoms. A team of doctors is often needed to figure out the treatment options based on each person's symptoms.