Linear Skin Defects with Multiple Congenital Anomalies 1 (LSDMCA1)

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MedlinePlus Genetics: ⁴² Microphthalmia with linear skin defects syndrome is a disorder that mainly affects females. In people with this condition, one or both eyes may be very small or poorly developed (microphthalmia). Affected individuals also typically have unusual linear skin markings on the head and neck. These markings follow the paths along which cells migrate as the skin develops before birth (lines of Blaschko). The skin defects generally improve over time and leave variable degrees of scarring.The signs and symptoms of microphthalmia with linear skin defects syndrome vary widely, even among affected individuals within the same family. In addition to the characteristic eye problems and skin markings, this condition can cause abnormalities in the brain, heart, and genitourinary system. A hole in the muscle that separates the abdomen from the chest cavity (the diaphragm), which is called a diaphragmatic hernia, may occur in people with this disorder. Affected individuals may also have short stature and fingernails and toenails that do not grow normally (nail dystrophy).

MalaCards based summary: Linear Skin Defects with Multiple Congenital Anomalies 1, also known as midas syndrome, is related to linear skin defects with multiple congenital anomalies 2 and microphthalmia. An important gene associated with Linear Skin Defects with Multiple Congenital Anomalies 1 is HCCS (Holocytochrome C Synthase), and among its related pathways/superpathways is Peroxisomal lipid metabolism. The drugs Zolmitriptan and Neurotransmitter Agents have been mentioned in the context of this disorder. Affiliated tissues include skin, eye and heart, and related phenotypes are anophthalmia and microphthalmia

GARD: ¹⁹ Microphthalmia with linear skin defects syndrome (MLS syndrome) is 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 genetic change in the HCCS gene. In some cases, it may be caused by genetic changes in the COX7B and NDUFB11 genes, (also located on the X chromosome). 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.

UniProtKB/Swiss-Prot: ⁷³ A disorder characterized by dermal, ocular, neurological and cardiac abnormalities. LSDMCA1 main features are unilateral or bilateral microphthalmia, linear skin defects in affected females, and in utero lethality for males. Skin defects are limited to the face and neck, consisting of areas of aplastic skin that heal with age to form hyperpigmented areas. Additional features in female patients include agenesis of the corpus callosum, sclerocornea, chorioretinal abnormalities, infantile seizures, congenital heart defect, intellectual disability, and diaphragmatic hernia. Microphthalmia is a disorder of eye formation, ranging from small size of a single eye to complete bilateral absence of ocular tissues (anophthalmia). In many cases, microphthalmia/anophthalmia occurs in association with syndromes that include non-ocular abnormalities.

Disease Ontology ¹¹ Linear skin defects with multiple congenital anomalies 1: A syndromic microphthalmia characterized by unilateral or bilateral microphthalmia and linear skin defects on the face and neck in females and in utero lethality in males that has material basis in heterozygous or hemizygous mutation in HCCS on chromosome Xp22.2.

Mls syndrome: A syndrome characterized by linear skin defects and various other congenital anomalies. The classical diagnosis consisted of unilateral or bilateral microphthalmia and/or anophthalmia and linear skin defects but patients with a molecular diagnosis of MLS syndrome may not display eye abnormalities.

OMIM®: ⁵⁷ The microphthalmia with linear skin defects syndrome (MLS) is an X-linked dominant disorder characterized by unilateral or bilateral microphthalmia and linear skin defects--which are limited to the face and neck, consisting of areas of aplastic skin that heal with age to form hyperpigmented areas--in affected females and in utero lethality for males (Wimplinger et al., 2006). (309801) (Updated 08-Dec-2022)

Orphanet: ⁵⁸ A rare X-linked, syndromic eye disorder characterized by ocular defects (microphthalmia, orbital cysts, corneal opacities) and linear skin dysplasia of the neck, head, and chin. Additional findings may include agenesis of corpus callosum, sclerocornea, chorioretinal abnormalities, hydrocephalus, seizures, intellectual deficit, and nail dystrophy.

Wikipedia: ⁷⁵ Microphthalmia-dermal aplasia-sclerocornea syndrome is a condition characterized by linear skin lesions.... more...

Clinical features from OMIM®:

Search NIH Clinical Center for Linear Skin Defects with Multiple Congenital Anomalies 1