Rare Disease Library

Matthew-Wood syndrome

Spear syndrome · Anophthalmia-pulmonary hypoplasia syndrome

Anophthalmia plus syndrome

Fryns microphthalmia syndrome · Microphthalmia with facial clefting

Anophthalmia-heart and pulmonary anomalies-intellectual disability syndrome

Anophthalmia-hypothalamo-pituitary insufficiency syndrome

14q22 microdeletion syndrome · Al Frayh-Facharzt-Haque syndrome

Anophthalmia/microphthalmia-esophageal atresia syndrome

MCOPS3 · Syndromic microphthalmia type 3

Colobomatous microphthalmia

MAC · Microphthalmia with colobomatous cyst

Congenital aphakia-iris hypoplasia-microphthalmia-microcornea syndrome

Fetal akinesia deformation sequence

Arthrogryposis multiplex congenita-pulmonary hypoplasia syndrome · FADS

Fibulo-ulnar hypoplasia-renal anomalies syndrome

Saito-Kuba-Tsuruta syndrome

Hantavirus pulmonary syndrome

Hypopituitarism-microphthalmia syndrome

Kaplowitz-Bodurtha syndrome

Isolated microphthalmia-anophthalmia-coloboma

Isolated anophthalmia-microphthalmia syndrome

Microphthalmia with limb anomalies

Anophthalmia-syndactyly syndrome · OAS

Microphthalmia-anophthalmia-coloboma

Anophthalmia-microphthalmia syndrome

NEK9-related lethal skeletal dysplasia

Lethal skeletal dysplasia-fetal akinesia-contractures-thoracic dysplasia-pulmonary hypoplasia syndrome

OBSOLETE: Laryngo-tracheo-esophageal cleft-pulmonary hypoplasia syndrome

OBSOLETE: Novak syndrome

PAGOD syndrome

Pulmonary hypoplasia-agonadism-dextrocardia-diaphragmatic hernia syndrome

Primary pulmonary hypoplasia

Pulmonary artery hypoplasia

Unilateral Pulmonary Artery Hypoplasia · PAH

Pulmonary fibrosis-hepatic hyperplasia-bone marrow hypoplasia syndrome

Pulmonary valve agenesis

Congenital absence of the pulmonary valve · PVA

Syndromic breast hypoplasia/aplasia

Ulnar hypoplasia-split foot syndrome

Ulnar hypoplasia-lobster-claw deformity of feet syndrome · Van den Berghe-Dequecker syndrome