Rare Disease Library

Symbrachydactyly of hands and feet

De Smet-Fabry-Fryns syndrome

Acropectorovertebral dysplasia

F syndrome

Alopecia-hypogonadism-extrapyramidal syndrome

Devriendt-Legius-Fryns syndrome

Alopecia-intellectual disability-hypergonadotropic hypogonadism syndrome

Devriendt-Vandenberghe-Fryns syndrome

Anophthalmia plus syndrome

Fryns microphthalmia syndrome · Microphthalmia with facial clefting

Arachnodactyly-intellectual disability-dysmorphism syndrome

De Die-Smulders-Vles-Fryns syndrome

Autosomal recessive distal osteolysis syndrome

Distal osteolysis-short stature-intellectual disability syndrome · Petit-Fryns syndrome

Cerebro-oculo-facial-lymphatic syndrome

Fryns-Aftimos syndrome

De Barsy syndrome

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

DEND syndrome

Developmental delay-epilepsy-neonatal diabetes syndrome

Dent disease

Dent syndrome · Low-molecular-weight proteinuria with hypercalciuria and nephrocalcinosis

Diethylstilbestrol syndrome

DES embryofetopathy · DES syndrome

Distal limb deficiencies-micrognathia syndrome

10q24 microduplication syndrome · Buttiens-Fryns syndrome

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

Friedman-Goodman syndrome · FACES syndrome

Familial atypical multiple mole melanoma syndrome

B-K mole syndrome · FAMM-PC syndrome

FATCO syndrome

Hecht-Scott syndrome · Fibular aplasia-tibial campomelia-oligosyndactyly syndrome

Febrile infection-related epilepsy syndrome

AERRPS · Acute encephalitis with refractory repetitive partial seizures

Fragile X syndrome

FRAXA syndrome · FXS

FRAXF syndrome

Frey syndrome

Baillarger syndrome · Auriculotemporal syndrome

Fried syndrome

Fryns syndrome

Diaphragmatic hernia-facial dysmorphism-distal limb anomalies syndrome

Fryns-Smeets-Thiry syndrome

Growth deficiency-brachydactyly-dysmorphism syndrome

Frias syndrome

Hyperphosphatasia-intellectual disability syndrome

Mabry syndrome

Lujan-Fryns syndrome

X-linked intellectual disability with marfanoid habitus

Neuromyelitis optica spectrum disorder

Devic disease · Devic syndrome

Neuromyelitis optica spectrum disorder with anti-AQP4 antibodies

Devic disease · Devic syndrome

Neuromyelitis optica spectrum disorder with anti-MOG antibodies

Devic disease · Devic syndrome

Neuromyelitis optica spectrum disorder without anti-MOG and without anti-AQP4 antibodies

Devic disease · Devic syndrome

RHYNS syndrome

Retinitis pigmentosa-hypopituitarism-nephronophthisis-skeletal dysplasia syndrome

Turnpenny-Fry syndrome

PCGF2-related disorder · TPFS

Upper limb mesomelic dysplasia, type Fryns

Fryns-Hofkens-Fabry syndrome