Rare Disease Library

Hallermann-Streiff syndrome

François dyscephalic syndrome · Oculomandibulofacial syndrome

22q11.2 deletion syndrome

22q11DS · CATCH 22

Acro-renal-mandibular syndrome

Split hand/split foot-mandibular hypoplasia syndrome

Acrocardiofacial syndrome

ACFS · CCGE syndrome

Branchio-oculo-facial syndrome

BOFS

Cerebro-oculo-facial-lymphatic syndrome

Fryns-Aftimos syndrome

Cerebrocostomandibular syndrome

COFS syndrome

Cerebrooculofacioskeletal syndrome · Pena-Shokeir syndrome type 2

Femoral-facial syndrome

FFS · FHUFS

Flat face-microstomia-ear anomaly syndrome

Blepharophimosis-telecanthus-microstomia syndrome · Simosa-Penchaszadeh-Bustos syndrome

IVIC syndrome

Oculo-oto-radial syndrome · Radial ray defects, hearing impairment, external ophthalmoplegia, and thrombocytopenia

Mandibulofacial dysostosis-macroblepharon-macrostomia syndrome

Macroblepharon-ectropion-hypertelorism-macrostomia syndrome

Mandibulofacial dysostosis-microcephaly syndrome

MFDM syndrome · Mandibulofacial dysostosis, Guion-Almeida type

OBSOLETE: Mandibulofacial dysostosis-lymphedema syndrome

Oculoauriculofrontonasal syndrome

OAFNS

Oculocerebrofacial syndrome, Kaufman type

Oculodentodigital dysplasia

Oculo-dento-digital dysplasia · ODOD syndrome

Oculoectodermal syndrome

Toriello Lacassie Droste syndrome · Aplasia cutis congenita-epibulbar dermoids syndrome

Oculofaciocardiodental syndrome

OFCD syndrome · Cataract-microphthalmia-radiculomegaly-cardiac septal defect syndrome

Oculootodental syndrome

OOD

Oculoskeletodental syndrome

Oculo-skeleto-dental syndrome

Oculotrichoanal syndrome

MOTA syndrome · Manitoba oculotrichoanal syndrome

Opsoclonus-myoclonus syndrome

Ataxo-opso-myoclonus syndrome · Dancing eye syndrome

Orofacial clefting syndrome

Orofaciodigital syndrome

OFD · Oral-facial-digital syndrome

Oromandibular-limb anomalies syndrome

Otomandibular syndrome

First branchial arch syndrome · Laterofacial microsomia

Patterson-Stevenson-Fontaine syndrome

Patterson-Stevenson syndrome · Split foot deformity-mandibulofacial dysostosis syndrome

Urofacial syndrome

Hydronephrosis-inverted smile syndrome · Ochoa syndrome