Rare Disease Library

Upper limb mesomelic dysplasia, type Fryns

Fryns-Hofkens-Fabry syndrome

Acropectorovertebral dysplasia

F syndrome

Anophthalmia plus syndrome

Fryns microphthalmia syndrome · Microphthalmia with facial clefting

Autosomal recessive distal osteolysis syndrome

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

B-cell immunodeficiency-limb anomaly-urogenital malformation syndrome

BILU syndrome · Hoffman syndrome

Cerebro-oculo-facial-lymphatic syndrome

Fryns-Aftimos 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

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

H syndrome

HERNS syndrome

Hereditary endotheliopathy-retinopathy-nephropathy-stroke syndrome

Hyperphosphatasia-intellectual disability syndrome

Mabry syndrome

Hypotrichosis-osteolysis-periodontitis-palmoplantar keratoderma syndrome

HOPP syndrome · Hypotrichosis-osteolysis-periodontitis-palmoplantar hyperkeratosis syndrome

Lujan-Fryns syndrome

X-linked intellectual disability with marfanoid habitus

Muscular pseudohypertrophy-hypothyroidism syndrome

Kocher-Debré-Semelaigne syndrome · Hoffmann syndrome

PENS syndrome

Papular epidermal nevi with skyline basal cell layers syndrome

RHYNS syndrome

Retinitis pigmentosa-hypopituitarism-nephronophthisis-skeletal dysplasia syndrome

Symbrachydactyly of hands and feet

De Smet-Fabry-Fryns syndrome

Turnpenny-Fry syndrome

PCGF2-related disorder · TPFS