Microphthalmia with linear skin defects syndrome

MIDAS syndrome (Microphthalmia, Dermal Aplasia, and Sclerocornea), also called microphthalmia with linear skin defects syndrome, is characterized by ocular defects (microphthalmia, orbital cysts, corneal opacities) and linear skin dysplasia of the neck, head, and chin. It has been reported in less than 50 patients. Additional findings may include agenesis of corpus callosum, sclerocornea, chorioretinal abnormalities, hydrocephalus, seizures, intellectual deficit, and nail dystrophy. It is transmitted as an X-linked dominant trait with male lethality.



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Narrow down the case reports



Total: 22 (papers)

   


(per page)
Matched Phenotype  Gene  Mutation  MeSH
Rank
(Similarity)		 PMID
(PMCID)
1
(30.8%)		 8267001
 MIDAS syndrome (microphthalmia, dermal aplasia, and sclerocornea): an X-linked phenotype distinct from Goltz syndrome.
Happle R, Daniels O, Koopman RJ.
Am J Med Genet. 1993;47(5):710-3.
Microphthalmia Blepharophimosis
Corneal Opacity Females Focal Dermal Hypoplasia Homo sapiens Infant Microphthalmos Phenotype Skin Abnormalities Syndrome X Chromosome
2
(29.2%)		 8985729
 Oculocerebrocutaneous syndrome: a case report, a follow-up, and differential diagnostic considerations.
Moog U, Kruger G, Stengel B, De Die-Smulders C, Dykstra S, Bleeker-Wagemakers E.
Genet Couns. 1996;7(4):257-65.
Anophthalmia Orbital cyst
Adult Anophthalmos Brain Cleft Palate Cyst Differential Diagnosis Focal Dermal Hypoplasia Follow-Up Studies Homo sapiens Infant, Newborn Male Syndrome
3
(24.9%)		 17286317
 Microphthalmia with linear skin defects (MLS) syndrome evaluated by prenatal karyotyping, FISH and array comparative genomic hybridization.
Cain CC, Saul D, Attanasio L, Oehler E, Hamosh A, Blakemore K, Stetten G.
Prenat Diagn. 2007;27(4):373-9.
Cystic hygroma
HIRA PRPF31
Adult Chromosomes, Human, X Crossbreeding Fatal Outcome Females Fluorescent in Situ Hybridization Homo sapiens Microphthalmos Pregnancy Sex Chromosome Aberrations Skin Abnormalities Syndrome Ultrasonography, Prenatal
4
(17.5%)		 23401659
(3566894)
 Familial cases of a submicroscopic Xp22.2 deletion: genotype-phenotype correlation in microphthalmia with linear skin defects syndrome.
Vergult S, Leroy B, Claerhout I, Menten B.
Mol Vis. 2013;19:311-8.
Microphthalmia Scarring
Child Chromosome Deletion Chromosomes, Human, X Females GTPase-Activating Proteins Gene Deletion Genetic Association Studies Genetic Diseases, X-Linked Homo sapiens Lyase Male Microphthalmos Middle Aged Skin Abnormalities Syndrome
4
(17.5%)		 18950397
 Microphthalmia with linear skin defects: a case report and review.
Sharma VM, Ruiz de Luzuriaga AM, Waggoner D, Greenwald M, Stein SL.
Pediatr Dermatol. 2008;25(5):548-52.
Hydrocephalus Hernia
HCCS
Chromosomes, Human, X Females Homo sapiens Limb Deformities, Congenital Microphthalmos Skin Abnormalities Syndrome
6
(4.0%)		 25291437
 Anterior segment developmental anomalies in a 33-week-old fetus with MIDAS syndrome.
Herwig MC, Loeffler KU, Gembruch U, Kuchelmeister K, Muller AM.
Pediatr Dev Pathol. 2014;17(6):491-5.
Hypertelorism
CHP1
Adult Autopsy Cornea Corneal Diseases Corneal Opacity Eye Abnormalities Females Genetic Diseases, X-Linked Gestational Age Homo sapiens Microphthalmos Pregnancy Skin Abnormalities
6
(4.0%)		 25182979
(4236679)
 Microphthalmia with Linear Skin Defects (MLS) associated with Autism Spectrum Disorder (ASD) in a patient with Familial 12.9Mb Terminal Xp deletion.
Margari L, Colonna A, Craig F, Gentile M, Giannella G, Lamanna AL, Legrottaglie AR.
BMC Pediatr. 2014;14:220.
Microphthalmia
HCCS
Child Development Disorders, Pervasive Chromosomes, Human, X Females Gene Deletion Genetic Diseases, X-Linked Homo sapiens Microphthalmos Skin Abnormalities
6
(4.0%)		 24626674
(3938380)
 Dermatoscopic aspects of the microphthalmia with linear skin defects (MLS) syndrome.
Almeida HL Jr, Rossi G, Abreu LB, Bergamaschi C, Silva AB, Kutsche K.
An Bras Dermatol. 2014;89(1):180-1.
Microphthalmia
HCCS
Chromosome Deletion Dermoscopy Females Genetic Diseases, X-Linked Homo sapiens Infant, Newborn Microphthalmos Skin Skin Abnormalities Syndrome
6
(4.0%)		 22612277
 Microphthalmia with linear skin defects syndrome.
Garcia-Rabasco A, De-Unamuno B, Martinez F, Febrer-Bosch I, Alegre-de-Miquel V.
Pediatr Dermatol. 2013;30(6):e230-1.
Microcornea
Child Chromosomes, Human, X Dermis Females Genetic Diseases, X-Linked Homo sapiens Microphthalmos Skin Abnormalities
6
(4.0%)		 18580270
 Corneal pathology in microphthalmia with linear skin defects syndrome.
Kapur R, Tu EY, Toyran S, Shah P, Vangveeravong S, Lloyd WC 3rd, Edward DP.
Cornea. 2008;27(6):734-8.
Sclerocornea
Collagen Type III Cornea Corneal Opacity Extracellular Matrix Females Fluorescent Antibody Technique, Indirect Homo sapiens Immunophenotyping Infant Keratan Sulfate Keratoplasty, Penetrating Male Microphthalmos Sclera Skin Abnormalities Syndrome
        

Phenotype(s) retrieved from Orphanet

    Total: 78

HPO ID Term Frequency
HP:0000528 Anophthalmia Very frequent (99-80%)
HP:0000568 Microphthalmia Very frequent (99-80%)
HP:0000647 Sclerocornea Very frequent (99-80%)
HP:0000776 Congenital diaphragmatic hernia Very frequent (99-80%)
HP:0000953 Hyperpigmentation of the skin Very frequent (99-80%)
HP:0001000 Abnormality of skin pigmentation Very frequent (99-80%)
HP:0004334 Dermal atrophy Very frequent (99-80%)
HP:0007957 Corneal opacity Very frequent (99-80%)
HP:0008065 Aplasia/Hypoplasia of the skin Very frequent (99-80%)
HP:0010783 Erythema Very frequent (99-80%)
HP:0011800 Midface retrusion Very frequent (99-80%)
HP:0000278 Retrognathia Frequent (79-30%)
HP:0000347 Micrognathia Frequent (79-30%)
HP:0000431 Wide nasal bridge Frequent (79-30%)
HP:0000445 Wide nose Frequent (79-30%)
HP:0000492 Abnormal eyelid morphology Frequent (79-30%)
HP:0000499 Abnormal eyelash morphology Frequent (79-30%)
HP:0000598 Abnormality of the ear Frequent (79-30%)
HP:0000614 Abnormal nasolacrimal system morphology Frequent (79-30%)
HP:0001053 Hypopigmented skin patches Frequent (79-30%)
HP:0001639 Hypertrophic cardiomyopathy Frequent (79-30%)
HP:0001644 Dilated cardiomyopathy Frequent (79-30%)
HP:0001671 Abnormal cardiac septum morphology Frequent (79-30%)
HP:0001999 Abnormal facial shape Frequent (79-30%)
HP:0003510 Severe short stature Frequent (79-30%)
HP:0004327 Abnormal vitreous humor morphology Frequent (79-30%)
HP:0007703 Abnormality of retinal pigmentation Frequent (79-30%)
HP:0009939 Mandibular aplasia Frequent (79-30%)
HP:0011531 Vitritis Frequent (79-30%)
HP:0011675 Arrhythmia Frequent (79-30%)
HP:0000035 Abnormal testis morphology Occasional (29-5%)
HP:0000036 Abnormality of the penis Occasional (29-5%)
HP:0000037 Male pseudohermaphroditism Occasional (29-5%)
HP:0000039 Epispadias Occasional (29-5%)
HP:0000047 Hypospadias Occasional (29-5%)
HP:0000062 Ambiguous genitalia Occasional (29-5%)
HP:0000238 Hydrocephalus Occasional (29-5%)
HP:0000252 Microcephaly Occasional (29-5%)
HP:0000363 Abnormality of earlobe Occasional (29-5%)
HP:0000365 Hearing impairment Occasional (29-5%)
HP:0000501 Glaucoma Occasional (29-5%)
HP:0000556 Retinal dystrophy Occasional (29-5%)
HP:0000572 Visual loss Occasional (29-5%)
HP:0000618 Blindness Occasional (29-5%)
HP:0000627 Posterior embryotoxon Occasional (29-5%)
HP:0000646 Amblyopia Occasional (29-5%)
HP:0000682 Abnormality of dental enamel Occasional (29-5%)
HP:0000960 Sacral dimple Occasional (29-5%)
HP:0001249 Intellectual disability Occasional (29-5%)
HP:0001250 Seizures Occasional (29-5%)
HP:0001263 Global developmental delay Occasional (29-5%)
HP:0001274 Agenesis of corpus callosum Occasional (29-5%)
HP:0001328 Specific learning disability Occasional (29-5%)
HP:0001331 Absent septum pellucidum Occasional (29-5%)
HP:0001508 Failure to thrive Occasional (29-5%)
HP:0001510 Growth delay Occasional (29-5%)
HP:0001597 Abnormality of the nail Occasional (29-5%)
HP:0001634 Mitral valve prolapse Occasional (29-5%)
HP:0001653 Mitral regurgitation Occasional (29-5%)
HP:0001704 Tricuspid valve prolapse Occasional (29-5%)
HP:0002034 Abnormality of the rectum Occasional (29-5%)
HP:0002094 Dyspnea Occasional (29-5%)
HP:0002098 Respiratory distress Occasional (29-5%)
HP:0002133 Status epilepticus Occasional (29-5%)
HP:0002300 Mutism Occasional (29-5%)
HP:0002357 Dysphasia Occasional (29-5%)
HP:0002381 Aphasia Occasional (29-5%)
HP:0002878 Respiratory failure Occasional (29-5%)
HP:0004302 Functional motor deficit Occasional (29-5%)
HP:0004378 Abnormality of the anus Occasional (29-5%)
HP:0005180 Tricuspid regurgitation Occasional (29-5%)
HP:0007731 Chorioretinal dysplasia Occasional (29-5%)
HP:0007973 Retinal dysplasia Occasional (29-5%)
HP:0008665 Clitoral hypertrophy Occasional (29-5%)
HP:0010529 Echolalia Occasional (29-5%)
HP:0011027 Abnormality of the fallopian tube Occasional (29-5%)
HP:0011265 Cleft earlobe Occasional (29-5%)
HP:0011968 Feeding difficulties Occasional (29-5%)


Phenotype(s) retrieved from case reports

    Total: 8

HPO ID Term # of case reports
HP:0000568 Microphthalmia 12
HP:0000647 Sclerocornea 3
HP:0000717 Autism 2
HP:0000476 Cystic hygroma 1
HP:0000482 Microcornea 1
HP:0011675 Arrhythmia 1
HP:0031677 Polymorphic ventricular tachycardia 1
HP:0100753 Schizophrenia 1


Causative gene(s) retrieved from Orphanet

    Total: 3

Gene Symbol Gene Name Entrez Gene ID
HCCS holocytochrome c synthase 3052
COX7B cytochrome c oxidase subunit 7B 1349
NDUFB11 NADH:ubiquinone oxidoreductase subunit B11 54539