linear skin defects with multiple congenital anomalies https://github.com/monarch-initiative/mondo/issues/5588 https://rarediseases.info.nih.gov/diseases/3659/microphthalmia-with-linear-skin-defects-syndrome https://www.malacards.org/card/linear_skin_defects_with_multiple_congenital_anomalies_1 OMIMPS:309801 MONDO:0010672 microphthalmia with linear skin defects syndrome syndromic microphthalmia type 7 linear skin defects with multiple congenital anomalies LSDMCA1 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. Orphanet:2556 MESH:C537466 Micropthalmia syndromic 7 MCOPS7 GARD:0003659 Editor notes: Renamed from MICROPHTHALMIA, SYNDROMIC 7; MCOPS7 by OMIM on 5/15/15. Placed in both PS309801 and PS309800 by OMIM. microphthalmia-dermal aplasia-sclerocornea syndrome DOID:0111875 linear skin defects with multiple congenital anomalies type 1 MIDAS syndrome microphthalmia dermal aplasia and sclerocornea syndrome SCTID:721879006 linear skin defects with multiple congenital anomalies 1 MLS syndrome syndromic microphthalmia mixed dermis disorder X-linked syndromic intellectual disability hereditary skin disorder