linear skin defects with multiple congenital anomalies
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.
MONDO:0020119
X-linked syndromic intellectual disability
excluded_subClassOf
MONDO:0016073
syndromic microphthalmia
is_a
MONDO:0019294
mixed dermis disorder
is_a
MONDO:0100118
hereditary skin disorder
is_a
LSDMCA1
related
MCOPS7
exact
MIDAS syndrome
exact
MLS syndrome
exact
Micropthalmia syndromic 7
related
linear skin defects with multiple congenital anomalies
exact
linear skin defects with multiple congenital anomalies 1
related
linear skin defects with multiple congenital anomalies type 1
exact
microphthalmia dermal aplasia and sclerocornea syndrome
related
microphthalmia with linear skin defects syndrome
exact
microphthalmia-dermal aplasia-sclerocornea syndrome
exact
syndromic microphthalmia type 7
exact
SPBC26H8.12 SPAC24C9.02c