Rare Disease Library

Glossopalatine ankylosis

Cosack syndrome

Growth deficiency-brachydactyly-dysmorphism syndrome

Frias syndrome

H syndrome

Indomethacin embryofetopathy

Fetal indomethacin syndrome

Isolated congenital onychodysplasia

COIF · COIF syndrome

Jeune syndrome

Asphyxiating thoracic dystrophy of the newborn · JATD

Joubert syndrome with hepatic defect

COACH syndrome · Cerebellar vermis hypoplasia-oligophrenia-congenital ataxia-coloboma-hepatic fibrosis

Junctional epidermolysis bullosa with pyloric atresia

Carmi syndrome · JEB-PA

L1 syndrome

CRASH syndrome · Corpus callosum hypoplasia-retardation-adducted thumbs-spasticity-hydrocephalus syndrome

LUMBAR syndrome

PELVIS syndrome · Perineal hemangioma-external genitalia malformations-lipomyelomeningocele-vesicorenal abnormalities-imperforate anus-skin tag syndrome

May-Thurner syndrome

MTS · Cockett syndrome

N syndrome

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

Okamoto syndrome · HNRNPK-related neurodevelopmental disorder

Noonan syndrome-like disorder with juvenile myelomonocytic leukemia

CBL syndrome · Noonan syndrome-like disorder with JMML

Oculocerebral hypopigmentation syndrome, Cross type

Cross syndrome

Osteosclerotic bone dysplasia

Raine syndrome

Otodental syndrome

Globodontia · Otodental dysplasia

Pelviscapular dysplasia

Cousin syndrome · Familial pelvis-scapular dysplasia

Ravine syndrome

Progressive encephalopathy with severe infantile anorexia · Reunion island-anorexia-vomiting which is irrepressible-neurological signs syndrome

Robinow syndrome

Acral dysostosis with facial and genital abnormalities · Fetal face syndrome

Saldino-Mainzer syndrome

Conorenal syndrome · Renal dysplasia-retinal pigmentary dystrophy-cerebellar ataxia-skeletal dysplasia syndrome

SERKAL syndrome

Sex reversion-kidneys, adrenal and lung dysgenesis syndrome

Spinal arteriovenous metameric syndrome

Cutaneomeningospinal angiomatosis · SAMS 1-31

Thalidomide embryopathy

Fetal thalidomide syndrome

Twin to twin transfusion syndrome

Feto-fetal transfusion syndrome

W syndrome

Pallister-W syndrome

X-linked Charcot-Marie-Tooth disease type 4

CMT4X · CMTX4

X-linked fetal akinesia syndrome

Holmes-Benacerraf syndrome