Rare Disease Library

Opitz GBBB syndrome

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

De Hauwere syndrome

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

Donnai-Barrow syndrome

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

Hyper-IgE syndrome

Hyperimmunoglobulinemia D with periodic fever

HIDS · Hyper-IgD syndrome

Hypertelorism-hypospadias-polysyndactyly syndrome

Naguib-Richieri-Costa syndrome · Acrofrontofacionasal dysostosis type 2

Hypertelorism-microtia-facial clefting syndrome

Bixler-Christian-Gorlin syndrome · HMC syndrome

Hypospadias-hypertelorism-coloboma and deafness syndrome

Hypospadias-hypertelorism-coloboma and hearing loss syndrome

Lower limb malformation-hypospadias syndrome

Fried-Goldberg-Mundel syndrome

Mandibulofacial dysostosis-macroblepharon-macrostomia syndrome

Macroblepharon-ectropion-hypertelorism-macrostomia syndrome

Non-syndromic posterior hypospadias

Perineal, scrotal or penoscrotal hypospadias · Hypospadias, severe form

Schilbach-Rott syndrome

BRSS · Hypotelorism-cleft palate-hypospadias syndrome

SPECC1L-related hypertelorism syndrome

Brachycephalofrontonasal dysplasia · Teebi hypertelorism syndrome

Spina bifida-hypospadias syndrome

Telecanthus-hypertelorism-strabismus-pes cavus syndrome