FGFR Syndromes

What does FGFR stand for?
Fibroblast Growth Factor Receptors

What are the FGFR Syndromes?

FGFR1 Conditions OMIM number Inheritance
Encephalocraniocutaneous lipomatosis, somatic mosaic 613001
Hartsfield syndrome (holoprosencephaly, ectrodactyly, and bilateral cleft lip/palate) 615465 AD
Hypogonadotropic hypogonadism 2 with or without anosmia 147950 AD
Jackson-Weiss syndrome 123150 AD
Osteoglophonic dysplasia 166250 AD
Pfeiffer syndrome type 1 101600 AD
Trigonocephaly 1 190440 AD
FGFR2 Conditions OMIM number Inheritance
Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis 207410 AD
Apert syndrome 101200 AD
Beare-Stevenson cutis gyrata syndrome 123790 AD
Bent bone dysplasia syndrome 614592 AD
Craniofacial-skeletal-dermatologic dysplasia 101600 AD
Craniosynostosis, nonspecific
Crouzon syndrome 123500 AD
Gastric cancer, somatic 613659
Jackson-Weiss syndrome 123150 AD
LADD syndrome (Lacrimoauriculodentodigital syndrome) 149730 AD
Pfeiffer syndrome, type 1, 2 and 3 101600 AD
Saethre-Chotzen syndrome 101400 AD
Scaphocephaly and Axenfeld-Rieger anomaly
Scaphocephaly, maxillary retrusion, and mental retardation 609579
FGFR3 Condition OMIM number Inheritance
Achondroplasia 100800 AD
Bladder cancer, somatic 109800
CATSHL syndrome (Camptodactyly, tall stature, and hearing loss syndrome) 610474 AD, AR
Cervical cancer, somatic 603956
Colorectal cancer, somatic 114500
Crouzon syndrome with acanthosis nigricans 612247 AD
Hypochondroplasia 146000 AD
LADD syndrome (Lacrimoauriculodentodigital syndrome) 149730 AD
Muenke syndrome 602849 AD
Nevus, epidermal, somatic 162900
SADDAN (achondroplasia, severe, with developmental delay and acanthosis nigricans) 616482 AD
Spermatocytic seminoma, somatic 273300
Thanatophoric dysplasia, type I 187600 AD
Thanatophoric dysplasia, type II 187601 AD
OMIM, Online Mendelian Inheritance in Man
AD, autosomal dominant; AR autosomal recessive


FGFR Craniosynostosis Syndromes Overview

NIH- Last Revision April 30th, 2020

Wenger T, Miller D, Evans K. FGFR Craniosynostosis Syndromes Overview. 1998 Oct 20 [Updated 2020 Apr 30]. In: Adam MP, Ardinger HH, Pagon RA, et al., editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2021. Available from: 


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