Rare Disease Library

TARP syndrome

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

Cataract-congenital heart disease-neural tube defect syndrome

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

Cleft palate-congenital heart defect-intellectual disability syndrome

Congenital heart defect-ectodermal dysplasia- brachydactyly-telangiectasia syndrome

Telangiectasia-ectodermal dysplasia-brachydactyly-cardiac anomaly syndrome · TEBC syndrome

Congenital heart defect-round face-developmental delay syndrome

Sonoda syndrome

Congenital Horner syndrome

Congenital Claude-Bernard-Horner syndrome

Congenital rubella syndrome

Mother-to-child transmission of rubella syndrome · CRS

Congenital short QT syndrome

Congenital SQTS

Contractures-developmental delay-Pierre Robin syndrome

5q23 microdeletion syndrome

Distichiasis-congenital heart defects-peripheral vascular anomalies syndrome

Genetic syndromic Pierre Robin syndrome

Microcephaly-cerebellar hypoplasia-cardiac conduction defect syndrome

Microcephaly-cerebellar hypoplasia-congenital heart conduction defect syndrome

Pancreatic hypoplasia-diabetes-congenital heart disease syndrome

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

Pierre Robin syndrome-faciodigital anomaly syndrome

Chitayat-Meunier-Hodgkinson syndrome · Pierre Robin sequence-faciodigital anomaly syndrome

Shoulder and thorax deformity-congenital heart disease syndrome

Structural heart defects-renal anomalies syndrome

Severe congenital heart defects-renal anomalies syndome · SHDRA syndrome

Teratogenic Pierre Robin syndrome

Teratogenic Pierre Robin sequence

Transketolase deficiency

TKT deficiency · Short stature-developmental delay-congenital heart defect syndrome

Weissenbacher-Zweymuller syndrome

Pierre Robin sequence-fetal chondrodysplasia syndrome · Pierre Robin syndrome-fetal chondrodysplasia syndrome