Rare Disease Library

Weiss-Kruszka Syndrome

Metopic ridging-ptosis-facial dysmorphism syndrome

Craniosynostosis-facial dysmorphism-brachydactyly syndrome

TCF12-related syndromic craniosynostosis

Facial dysmorphism-shawl scrotum-joint laxity syndrome

Seaver-Cassidy syndrome

Familial omphalocele syndrome with facial dysmorphism

Fanconi syndrome-ichthyosis-dysmorphism syndrome

Deal-Barrat-Dillon syndrome

German syndrome

Hypotonia-arthrogryposis-facial dysmorphism-lymphedema syndrome

Gingival fibromatosis-facial dysmorphism syndrome

Hypodontia-scalp hypotrichosis-facial dysmorphism syndrome

Autosomal recesive ectodermal dysplasia 14 · ARED14

Klippel-Feil anomaly-myopathy-facial dysmorphism syndrome

Orofacial clefting-cardiac anomalies-facial dysmorphism syndrome

AMOTL1-related syndrome

Overgrowth-macrocephaly-facial dysmorphism syndrome

Pierpont syndrome

Plantar lipomatosis-facial dysmorphism-developmental delay syndrome · Plantar lipomatosis-unusual facies-developmental delay syndrome

Retinitis pigmentosa-hearing loss-premature aging-short stature-facial dysmorphism syndrome

Retinitis pigmentosa-deafness-premature aging-short stature-facial dysmorphism syndrome

Short stature-onychodysplasia-facial dysmorphism-hypotrichosis syndrome

SOFT syndrome