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Matthew-Wood syndrome

Synonyms
ANOPHTHALMIA, CLINICAL, WITH MILD FACIAL DYSMORPHISM AND VARIABLE MALFORMATIONS OF THE LUNG, HEART, AND DIAPHRAGM; Anophthalmia/microphthalmia and pulmonary hypoplasia; Clinical anophthalmia mild facial dysmorphism lung heart and diaphragm malformations; Microphthalmia syndromic 9; PULMONARY AGENESIS, MICROPHTHALMIA, AND DIAPHRAGMATIC DEFECT; Pulmonary agenesis microphthalmi and diaphragmatic defect; Spear syndrome
Modes of inheritance
Autosomal recessive inheritance (Orphanet)
Autosomal dominant inheritance (Orphanet)

Summary

Syndromic microphthalmia-9 (MCOPS9), also referred to as pulmonary hypoplasia-diaphragmatic hernia-anophthalmia-cardiac defect, is characterized by bilateral clinical anophthalmia, pulmonary hypoplasia/aplasia, cardiac malformations, and diaphragmatic defects. The phenotype is variable, ranging from isolated clinical anophthalmia or microphthalmia to complex presentations involving the cardiac, pulmonary, diaphragmatic, and renal systems. At its most severe, infants are born without pulmonary structures and die soon after birth (Marcadier et al., 2015). [from OMIM]

Available tests

29 tests are in the database for this condition.

Check Related conditions for additional relevant tests.

Clinical tests (29 available)

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: MCOPCB8, MCOPS9, PP14296, STRA6
    Summary: signaling receptor and transporter of retinol STRA6

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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