Rare Disease Library

Wiedemann-Rautenstrauch syndrome

Neonatal progeroid syndrome

Atypical Werner syndrome

Atypical progeroid syndrome

B3GALT6-related spondylodysplastic Ehlers-Danlos syndrome

B3GALT6-related spondylodysplastic EDS · Beta3GalT6-deficient EDS

Corpus callosum agenesis-abnormal genitalia syndrome

Proud syndrome · ACC-abnormal genitalia syndrome

De Barsy syndrome

Cutis laxa-corneal clouding-intellectual disability syndrome · Progeroid syndrome, De Barsy type

Fontaine progeroid syndrome

Genetic progeroid syndrome

Inclusion body myopathy with Paget disease of bone and frontotemporal dementia

IBMPFD · Limb-girdle muscular dystrophy with Paget disease of bone

Infant acute respiratory distress syndrome

Hyaline membrane disease · Infant ARDS

Mandibuloacral dysplasia associated to MTX2

Mandibuloacral dysplasia progeroid syndrome · MADaM

Neonatal antiphospholipid syndrome

Neonatal Hughes syndrome · Neonatal antiphospholipid antibody syndrome

Neonatal compartment syndrome

Neonatal Volkmann ischemic contracture syndrome · Congenital Volkmann ischemic contracture syndrome

Neonatal Marfan syndrome

Neonatal MFS

Nestor-Guillermo progeria syndrome

NGPS

Nevo syndrome

Cerebral gigantism, Nevo type

OBSOLETE: Neonatal epilepsy syndrome

Progeroid syndrome

Progeroid syndrome, Petty type

Petty syndrome · Petty-Laxova-Wiedemann syndrome

Proteus syndrome

Partial gigantism-nevi-hemihypertrophy-macrocephaly syndrome

Pseudoprogeria syndrome

Hal-Berg-Rudolph syndrome · Absent eyebrows and eyelashes-intellectual disability syndrome

Stüve-Wiedemann syndrome

STWS · Stüve-Wiedemann dysplasia

Subaortic stenosis-short stature syndrome

Onat syndrome

Thiamine-responsive megaloblastic anemia syndrome

Rogers syndrome · TRMA

Wormian bones-micrognathia-abnormal dentition-progeroid syndrome

Marbach-Rustad progeroid syndrome · LEMD2-associated nuclear envelopathy with early progeroid appearance