Rare Disease Library

Gorlin-Chaudhry-Moss syndrome

Craniofacial dysostosis-genital, dental, cardiac anomalies syndrome · Cranofacial dysostosis-hypertrichosis-hypoplasia of labia majora syndrome

Acrocardiofacial syndrome

ACFS · CCGE syndrome

Cardiac anomalies-heterotaxy syndrome

Congenital vertebral-cardiac-renal anomalies syndrome

Congenital NAD deficiency disorder

Craniofacial dysmorphism-skeletal anomalies-intellectual disability syndrome

TMCO1 defect syndrome

Craniofacial dysostosis-diaphyseal hyperplasia syndrome

Autosomal dominant osteosclerosis, Stanescu type · Dysostosis, Stanescu type

Craniosynostosis-anal anomalies-porokeratosis syndrome

CAP syndrome · CDAGS syndrome

Craniosynostosis-dental anomalies

Kreiborg-Pakistani syndrome

Crouzon syndrome

Crouzon craniofacial dysostosis

Deafness-craniofacial syndrome

Hearing loss-craniofacial syndrome

Deafness-genital anomalies-metacarpal and metatarsal synostosis syndrome

Hearing loss-genital anomalies-metacarpal and metatarsal synostosis syndrome · Pfeiffer-Kapferer syndrome

Frontonasal dysplasia-alopecia-genital anomalies syndrome

ALX4-related FNDAG · Craniofrontonasal dysplasia with alopecia and hypogonadism

Genetic multiple congenital anomalies/dysmorphic syndrome

Harrod syndrome

Cranio-facio-digito-genital syndrome

KAT6-related intellectual disability-craniofacial anomalies-cardiac defects syndrome

KAT6A syndrome · Arboleda-Tham syndrome

Meacham syndrome

Meacham-Winn-Culler syndrome · Rhabdomyomatous dysplasia-cardiopathy-genital anomalies syndrome

Multiple congenital anomalies/dysmorphic syndrome

Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome

Okamoto syndrome · HNRNPK-related neurodevelopmental disorder

Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome due to a point mutation

OBSOLETE: Short stature-heart defect-craniofacial anomalies syndrome

OBSOLETE: Rommen-Mueller-Sybert syndrome

Orofacial clefting-cardiac anomalies-facial dysmorphism syndrome

AMOTL1-related syndrome

Robinow syndrome

Acral dysostosis with facial and genital abnormalities · Fetal face syndrome

Short stature-craniofacial anomalies-genital hypoplasia syndrome

Haspeslagh-Fryns-Muelenaere syndrome