Microphthalmia, Syndromic, 2 (MCOPS2)

What is Microphthalmia, Syndromic, 2 (MCOPS2)?

Microphthalmia is a rare genetic syndrome also known as Marashi-Gorlin or OFCD syndrome. The syndrome presents with multiple congenital abnormalities that affect the face, dental, and heart. It also includes eye abnormalities.

This syndrome is also known as:
ANOP2, Formerly MAA2, Formerly Microphthalmia, Cataracts, Radiculomegaly, and Septal Heart Defects; Oculo-Facio-Cardio-Dental (OFCD) syndrome; Oculofaciocardiodental Syndrome OFCD; OFCD Syndrome

What gene changes cause Microphthalmia, Syndromic, 2 (MCOPS2)?

Mutations to the BCOR gene are responsible for the syndrome. The syndrome is inherited in an X-linked dominant pattern.

What are the main symptoms of Microphthalmia, Syndromic, 2 (MCOPS2)?

The main symptoms of the syndrome include the following:

  • Eye anomalies: cataracts present at birth, secondary glaucoma, and very small eyes, in some cases the ocular tissue is missing completely, and in some cases, these anomalies can contribute to vision loss
  • Facial features and abnormalities: a long and narrow face, high nasal bridge, pointed nose with a cleft or divide at the end of it, and a cleft palate
  • Heart and cardiac defects: atrial septal defect, ventricular septal defect, floppy mitral valve
  • Dental issues: delayed eruption of secondary teeth, primary teeth that are delayed in falling out, teeth with enlarged roots

Possible clinical traits/features:
Flexion contracture, Cryptorchidism, Decreased body weight, Cubitus valgus, Microcornea, Ectopia lentis, Double outlet right ventricle, Retinal detachment, Developmental cataract, Clinodactyly of the 5th finger, Anophthalmia, Dental malocclusion, Delayed eruption of teeth, Motor delay, Dextrocardia, Feeding difficulties in infancy, Exotropia, X-linked dominant inheritance, Pulmonic stenosis, Umbilical hernia, Ventricular septal defect, Reduced number of teeth, Thick eyebrow, Ptosis, Microcephaly, Talipes equinovarus, Scoliosis, Spastic paraparesis, Radioulnar synostosis, Single median maxillary incisor, Abnormal cardiac septum morphology, Abnormal mitral valve morphology, Abnormal pulmonary valve morphology, Asymmetry of the ears, Aplasia/Hypoplasia affecting the eye, Aortic valve stenosis, Aplasia/Hypoplasia of the thumb, Cleft palate, Atrial septal defect, Blepharophimosis, Bifid uvula, Cataract, Camptodactyly of toe, Broad nasal tip, Bifid nasal tip, Highly arched eyebrow, Prominent nasal bridge, Fused teeth.

How is it diagnosed?

To find out if someone has a diagnosis of Microphthalmia, Syndromic, 2 (MCOPS2), it is important to have a consultation and evaluation with a clinical genetic specialist.  Specialists may also suggest specific genetic testing or other types of tests to help reach a diagnosis.  FDNA’s AI technology can help speed up the diagnostic process by analyzing facial features and other health information.

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