Rare Disease Library

C syndrome

OTCS · Opitz C trigonocephaly

Achalasia-microcephaly syndrome

Acrofacial dysostosis, Catania type

Opitz-Caltabiano syndrome

Bohring-Opitz syndrome

BOS syndrome · Bohring syndrome

Early-onset parkinsonism-intellectual disability syndrome

Laxova-Opitz syndrome · Waisman syndrome

Familial scaphocephaly syndrome

FG syndrome type 1

Opitz-Kaveggia syndrome

Goldberg-Shprintzen megacolon syndrome

GOSHS · Megacolon-microcephaly syndrome

Non-syndromic metopic craniosynostosis

Isolated metopic craniosynostosis · Non-syndromic metopic suture synostosis

Opitz GBBB syndrome

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

Prune belly syndrome

Abdominal muscle deficiency syndrome · Eagle-Barret syndrome

Smith-Lemli-Opitz syndrome

7-dehydrocholesterol reductase deficiency · RSH syndrome

Trigonocephaly-bifid nose-acral anomalies syndrome

Trigonocephaly-broad thumbs syndrome

Hunter-Rudd-Hoffmann syndrome

Trigonocephaly-short stature-developmental delay syndrome

Say-Meyer syndrome

XK aprosencephaly syndrome

Garcia-Lurie syndrome · XK syndrome