Rare Disease Library

Thakker-Donnai syndrome

Dysmorphism-multiple structural anomalies syndrome

Cardiac anomalies-short stature-joint hypermobility-facial dysmorphism syndrome

PHD syndrome · Polyvalvular heart disease syndrome

Chromosome X structural anomaly syndrome

Chromosome Y structural anomaly syndrome

Cloverleaf skull-multiple congenital anomalies syndrome

Cooper-Jabs syndrome

Aural atresia-multiple congenital anomalies-intellectual disability syndrome

Craniofacial dysmorphism-skeletal anomalies-intellectual disability syndrome

TMCO1 defect syndrome

Dobrow syndrome

Syngnathia-multiple anomalies syndrome

Facial dysmorphism-anorexia-cachexia-eye and skin anomalies syndrome

Friedman-Goodman syndrome · FACES syndrome

Fryns syndrome

Diaphragmatic hernia-facial dysmorphism-distal limb anomalies syndrome

Genetic lethal multiple congenital anomalies/dysmorphic syndrome

Genetic multiple congenital anomalies/dysmorphic syndrome

Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability

Genetic MCA · Genetic multiple congenital anomalies without intellectual disability (with or without dysmorphism)

Genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability

Genetic multiple congenital anomalies-intellectual disability with or without dysmorphism

Global developmental delay-alopecia-macrocephaly-facial dysmorphism-structural brain anomalies syndrome

Ornithine decarboxylase deficiency · Bachmann-Bupp syndrome

Intellectual disability-epilepsy-dental anomalies-facial dysmorphism syndrome

Den Hoed-De Boer-Voisin syndrome

Intellectual disability-facial dysmorphism-hand anomalies syndrome

KAT6B-related multiple congenital anomalies syndrome

KAT6B-related disorder

Klippel-Feil anomaly-myopathy-facial dysmorphism syndrome

Lethal multiple congenital anomalies/dysmorphic syndrome

Microcephaly-facial dysmorphism-ocular anomalies-multiple congenital anomalies syndrome

Multiple congenital anomalies-hypotonia-seizures syndrome

Congenital disorder of glycosylation due to PIGN deficiency · PIGN-CDG

Multiple congenital anomalies/dysmorphic syndrome

Multiple congenital anomalies/dysmorphic syndrome without intellectual disability

MCA without intellectual disability · Multiple congenital anomalies without intellectual disability with or without dysmorphism

Multiple congenital anomalies/dysmorphic syndrome-intellectual disability

MCA/MR · Multiple congenital anomalies-intellectual disability with or without dysmorphism

Multiple epiphyseal dysplasia-macrocephaly-facial dysmorphism syndrome

Multiple epiphyseal dysplasia, Al-Gazali type

Night blindness-skeletal anomalies-dysmorphism syndrome

Hunter-Thompson-Reed syndrome

OBSOLETE: Genetic multiple congenital anomalies/dysmorphic syndrome-variable intellectual disability syndrome

OBSOLETE: Genetic MCA/variable MR · OBSOLETE: Genetic multiple congenital anomalies-variable intellectual disability with or without dysmorphism syndrome

OBSOLETE: Multiple congenital anomalies/dysmorphic syndrome-variable intellectual disability syndrome

OBSOLETE: MCA/variable MR · OBSOLETE: Multiple congenital anomalies-variable intellectual disability with or without dysmorphism syndrome

Orofacial clefting-cardiac anomalies-facial dysmorphism syndrome

AMOTL1-related syndrome

Palatal anomalies-widely spaced teeth-facial dysmorphism-developmental delay syndrome

Palatal anomalies-multiple diastemata-facial dysmorphism-developmental delay syndrome

Postaxial polydactyly-anterior pituitary anomalies-facial dysmorphism syndrome

Culler-Jones syndrome

Rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome

Sex-chromosome structural anomaly syndrome

Allosome structural anomaly

Structural heart defects-renal anomalies syndrome

Severe congenital heart defects-renal anomalies syndome · SHDRA syndrome

Turner syndrome due to structural X chromosome anomalies