Rare Disease Library

Flat face-microstomia-ear anomaly syndrome

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

22q11.2 deletion syndrome

22q11DS · CATCH 22

3MC syndrome

Malpuech-Michels-Mingarelli-Carnevale syndrome · Craniofacial-ulnar-renal syndrome

Acrocardiofacial syndrome

ACFS · CCGE syndrome

Carnevale syndrome

3MC2 syndrome · Carnevale-Krajewska-Fischetto syndrome

Cataract-nephropathy-encephalopathy syndrome

Crome syndrome

Crandall syndrome

Alopecia-deafness-hypogonadism syndrome · Alopecia-sensorineural deafness-hypogonadism syndrome

Crane-Heise syndrome

Craniodigital-intellectual disability syndrome

Scott craniodigital syndrome · Scott-Bryant-Graham syndrome

Craniofacial dysostosis-diaphyseal hyperplasia syndrome

Autosomal dominant osteosclerosis, Stanescu type · Dysostosis, Stanescu type

Craniofacial-deafness-hand syndrome

CDHS · Sommer-Young-Wee-Frye syndrome

Craniofaciofrontodigital syndrome

Cantu craniofaciofrontodigital syndrome

Craniofrontonasal dysplasia

CFND · CFNS

Craniomicromelic syndrome

Deafness-craniofacial syndrome

Hearing loss-craniofacial syndrome

Facial cleft

Craniofacial cleft

Femoral-facial syndrome

FFS · FHUFS

Hallermann-Streiff syndrome

François dyscephalic syndrome · Oculomandibulofacial syndrome

Harrod syndrome

Cranio-facio-digito-genital syndrome

Juberg-Hayward syndrome

Cleft lip/palate-abnormal thumbs-microcephaly syndrome · Orocraniodigital syndrome

L1 syndrome

CRASH syndrome · Corpus callosum hypoplasia-retardation-adducted thumbs-spasticity-hydrocephalus syndrome

OBSOLETE: Cranioacrofacial syndrome

OBSOLETE: Grosse syndrome

Orofacial clefting syndrome

Urofacial syndrome

Hydronephrosis-inverted smile syndrome · Ochoa syndrome