Rare Disease Library

Cleft lip and palate-craniofacial dysmorphism-congenital heart defect-hearing loss syndrome

Hyaluronidase 2 deficiency · Cleft lip and palate-craniofacial dysmorphism-congenital heart defect-deafness syndrome

Abruzzo-Erickson syndrome

CHARGE-like syndrome · Cleft palate-coloboma-deafness syndrome

Burn-McKeown syndrome

Choanal atresia-hearing loss-cardiac defects-craniofacial dysmorphism syndrome

CDK13-related developmental delay-intellectual disability-facial dysmorphism-congenital heart defects syndrome

CDK13-related disorder

Cleft lip/palate-deafness-sacral lipoma syndrome

Cleft lip/palate-hearing loss-sacral lipoma syndrome · Lowry-Yong syndrome

Cleft palate-congenital heart defect-intellectual disability syndrome

Cleft palate-congenital heart defect-intellectual disability syndrome due to MEIS2 mutation

Craniofacial-deafness-hand syndrome

CDHS · Sommer-Young-Wee-Frye syndrome

Deafness-craniofacial syndrome

Hearing loss-craniofacial syndrome

Dysmorphism-cleft palate-loose skin syndrome

Dysmorphism-conductive hearing loss-heart defect syndrome

Dysraphism-cleft lip/palate-limb reduction defects syndrome

Medeira-Dennis-Donnai syndrome

Kapur-Toriello syndrome

Cleft lip/palate-facial, eye, heart and intestinal anomalies syndrome

Larsen-like syndrome, B3GAT3 type

Multiple joint dislocations-short stature-craniofacial dysmorphism-congenital heart defects syndrome

Pancreatic hypoplasia-diabetes-congenital heart disease syndrome

Pancreatic agenesis and congenital heart defects syndrome · Yorifuji-Okuno syndrome

TARP syndrome

Pierre Robin sequence-congenital heart defect-talipes syndrome · Pierre Robin syndrome-congenital heart defect-talipes syndrome

Temtamy syndrome

Craniofacial dysmorphism-coloboma-corpus callosum agenesis syndrome · Temtamy-Shalash syndrome

TMEM94-associated congenital heart defect-facial dysmorphism-developmental delay syndrome

TRAF7-associated heart defect-digital anomalies-facial dysmorphism-motor and speech delay syndrome