Symbol
Name
ID

Fgfr2
fibroblast growth factor receptor 2
MGI:95523

Phenotype annotations related to craniofacial

*	Aspects of the system are reported to show a normal phenotype.
	Darker colors indicate more annotations

Human Phenotypes

Low anterior hairline

Cutis gyrata of scalp

Abnormal skull morphology

Frontal bossing

Flat occiput

Prominent occiput

Parietal foramina

Biparietal narrowing

Brachycephaly

Acrobrachycephaly

Brachyturricephaly

Cloverleaf skull

Craniosynostosis

Coronal craniosynostosis

Bicoronal synostosis

Unicoronal synostosis

Left unicoronal synostosis

Right unicoronal synostosis

Lambdoidal craniosynostosis

Pansynostosis

Sagittal craniosynostosis

Dolichocephaly

Scaphocephaly

Plagiocephaly

Skull asymmetry

Trigonocephaly

Turricephaly

Oxycephaly

Micrognathia

Mandibular prognathia

Retrognathia

Hypoplasia of the maxilla

Hypoplasia of the zygomatic bone

Malar flattening

Shallow orbits

Posterior fossa cyst

Microcephaly

Macrocephaly

Metopic synostosis

Delayed cranial suture closure

Wormian bones

Wide anterior fontanel

Large fontanelles

Craniofacial dysostosis

Facial asymmetry

Flat face

Preauricular pit

Preauricular skin furrow

Midface retrusion

Cleft of chin

Broad forehead

Flat forehead

High forehead

Prominent forehead

Long philtrum

Short philtrum

Gingival overgrowth

Abnormal palate morphology

Bifid uvula

Cleft soft palate

Cleft palate

High palate

Narrow palate

Absence of Stensen duct

Aplasia of the parotid gland

Open mouth

Narrow mouth

Conical incisor

Microdontia

Supernumerary tooth

Hypodontia

Natal tooth

Delayed eruption of teeth

Delayed eruption of primary teeth

Enamel hypoplasia

Carious teeth

Dental crowding

Dental malocclusion

Open bite

Xerostomia

Choanal atresia

Choanal stenosis

Anteverted nares

Convex nasal ridge

Depressed nasal bridge

Prominent nasal bridge

Wide nasal bridge

Deviated nasal septum

Long nose

Narrow nose

Short nose

Conjunctivitis

Downslanted palpebral fissures

Epicanthus

Telecanthus

Abnormal nasolacrimal system morphology

Hypoplastic lacrimal duct

Nasolacrimal duct obstruction

Lacrimal gland aplasia

Lacrimal gland hypoplasia

Absent lacrimal punctum

Hypoplasia of the lacrimal punctum

Dacryocystitis

Blepharospasm

Underdeveloped supraorbital ridges

Infra-orbital crease

Periorbital fullness

Disease(s) Associated with FGFR2

acrocephalosyndactylia

Antley-Bixler syndrome without disordered steroidogenesis

Beare-Stevenson cutis gyrata syndrome

craniosynostosis

Crouzon syndrome

Jackson-Weiss syndrome

lacrimoauriculodentodigital syndrome 1

Pfeiffer syndrome

Saethre-Chotzen syndrome

Mouse Phenotypes

craniofacial phenotype

abnormal craniofacial morphology

abnormal craniofacial bone morphology

abnormal cranial suture morphology

abnormal coronal suture morphology

abnormal lambdoid suture morphology

wide metopic suture

abnormal sagittal suture morphology

wide sagittal suture

wide cranial sutures

abnormal intermaxillary suture morphology

wide intermaxillary suture

abnormal maxillary-premaxillary suture morphology

abnormal nasomaxillary suture morphology

abnormal cranium morphology

abnormal basicranium morphology

abnormal basioccipital bone morphology

abnormal basisphenoid bone morphology

short basicranium

abnormal cranial cartilage morphology

abnormal cranial cartilage development

abnormal cranial synchondrosis

premature presphenoid synchondrosis closure

abnormal sphenooccipital synchondrosis

premature sphenooccipital synchondrosis closure

abnormal cranial cavity morphology

decreased cranium height

decreased cranium length

increased cranium height

increased cranium width

small cranium

abnormal neurocranium morphology

abnormal frontal bone morphology

small frontal bone

short frontal bone

thin frontal bone

abnormal interparietal bone morphology

parietal bossing

small parietal bone

thin parietal bone

abnormal sphenoid bone morphology

abnormal presphenoid bone morphology

absent presphenoid bone

short presphenoid bone

abnormal zygomatic arch morphology

short zygomatic arch

small neurocranium

shallow orbits

long incisors

decreased molar number

arrest of tooth development

absent teeth

malocclusion

abnormal mandible morphology

abnormal mandibular angle morphology

small mandible

short mandible

abnormal maxillary frontal process morphology

abnormal maxillary zygomatic process morphology

short premaxilla

short maxilla

abnormal nasal bone morphology

short nasal bone

abnormal palatine bone morphology

abnormal palatine bone horizontal plate morphology

abnormal zygomatic bone morphology

short zygomatic bone

domed cranium

abnormal nasal capsule morphology

abnormal palate development

abnormal palatal mesenchymal cell proliferation

abnormal secondary palate development

abnormal palatal shelf fusion at midline

palatal shelves fail to meet at midline

palatal shelf fusion with tongue or mandible

abnormal facial morphology

small face

midface hypoplasia

short face

abnormal midface morphology

abnormal palate morphology

decreased palatal length

absent palatal rugae

cleft secondary palate

cleft palate

abnormal tongue morphology

tongue ankylosis

abnormal nasal septum cartilage morphology

abnormal nasal gland morphology

abnormal lateral nasal gland morphology

thick nasal septum

short snout

abnormal head shape

shortened head

Availability

Mouse Genotype

Fgfr2^m1Sgg/Fgfr2^m1Sgg

Fgfr2^tm1.1Dsn/Fgfr2^tm1.1Dsn

Fgfr2^tm1Schl/Fgfr2^tm1Schl

Fgfr2^tm2Schl/Fgfr2^tm2Schl

Fgfr2^tm3.1Lni/Fgfr2^tm3.1Lni

Fgfr2^tm3Dsn/Fgfr2^tm3Dsn

Fgfr2^tm4Lni/Fgfr2^tm4Lni

Fgfr2^m1Sgg/Fgfr2⁺

Fgfr2^tm1Schl/Fgfr2⁺

Fgfr2^tm2.3Dsn/Fgfr2⁺

Fgfr2^tm3.1Cxd/Fgfr2⁺

Fgfr2^tm3Ewj/Fgfr2⁺

Fgfr2^tm4Lni/Fgfr2⁺

Fgfr2^tm1Dor/Fgfr2^tm1.1Dor
Twist2^tm1(cre)Dor/Twist2⁺ (conditional)

Fgfr2^tm1Ewj/Fgfr2⁺
Tg(EIIa-cre)C5379Lmgd/0 (conditional)

Fgfr2^tm2Cxd/Fgfr2⁺
Tg(EIIa-cre)C5379Lmgd/0 (conditional)

Fgfr2^tm2Ewj/Fgfr2⁺
Tg(EIIa-cre)C5379Lmgd/0 (conditional)

Fgfr2^tm3Cxd/Fgfr2⁺
Tg(Col2a1-cre)1Xya/0 (conditional)

Fgfr2^tm3Cxd/Fgfr2⁺
Tg(Nes-cre)1Kln/0 (conditional)

Contributing Projects: Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
Citing These Resources Funding Information Warranty Disclaimer, Privacy Notice, Licensing, & Copyright Send questions and comments to User Support.	last database update 04/30/2024 MGI 6.23