Rare Disease Library

Donnai-Barrow syndrome

DBS/FOAR syndrome · Diaphragmatic hernia-exomphalos-hypertelorism syndrome

De Hauwere syndrome

De Hauwere-Chitty syndrome · Iris dysplasia-hypertelorism-deafness syndrome

Diaphragmatic hernia-short bowel-asplenia syndrome

Fryns syndrome

Diaphragmatic hernia-facial dysmorphism-distal limb anomalies syndrome

Lethal hydranencephaly-diaphragmatic hernia syndrome

Omphalocele-diaphragmatic hernia-cardiovascular anomalies-radial ray defect syndrome

Gershoni-Baruch syndrome

Opitz GBBB syndrome

Hypertelorism-oesophageal abnormality-hypospadias syndrome · Hypospadias-dysphagia syndrome

PAGOD syndrome

Pulmonary hypoplasia-agonadism-dextrocardia-diaphragmatic hernia syndrome

SPECC1L-related hypertelorism syndrome

Brachycephalofrontonasal dysplasia · Teebi hypertelorism syndrome