Symbol
Name
ID

Fgfr2
fibroblast growth factor receptor 2
MGI:95523

Phenotype annotations related to skeleton

Darker colors indicate more annotations

Human Phenotypes

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

Enamel hypoplasia

Short neck

Ulnar bowing

Femoral bowing

Genu valgum

Partial duplication of the distal phalanx of the 2nd finger

Partial duplication of the distal phalanx of the 3rd finger

Radial deviation of the 3rd finger

Clinodactyly of the 5th finger

Postaxial hand polydactyly

Shortening of all distal phalanges of the fingers

Broad distal phalanx of the thumb

Cone-shaped epiphyses of the phalanges of the hand

Absent proximal phalanx of thumb

Shortening of all middle phalanges of the fingers

Broad thumb

Partial duplication of thumb phalanx

Preaxial hand polydactyly

Symphalangism affecting the phalanges of the hand

Triphalangeal thumb

Bilateral triphalangeal thumbs

Short thumb

Arachnodactyly

Broad proximal phalanx of the hallux

Broad distal phalanx of the hallux

Duplication of the distal phalanx of the hallux

Broad hallux phalanx

Broad hallux

Broad distal hallux

Hallux valgus

Hallux varus

Preaxial foot polydactyly

Cone-shaped epiphyses of the toes

Short middle phalanx of toe

Overlapping toe

Toe syndactyly

2-3 toe syndactyly

3-4 toe cutaneous syndactyly

Preaxial polydactyly

Brachydactyly

Syndactyly

Cutaneous syndactyly

Cutaneous finger syndactyly

Finger syndactyly

2-3 finger syndactyly

Abnormal fibula morphology

Absent first metatarsal

Broad first metatarsal

Short first metatarsal

Short metatarsal

Broad metatarsal

Metatarsus adductus

Rocker bottom foot

Calcaneonavicular fusion

Metaphyseal widening

Dislocated radial head

Absent radius

Hypoplasia of the radius

Humeroradial synostosis

Radioulnar synostosis

Proximal radio-ulnar synostosis

Hypoplasia of the ulna

Split foot

Genu recurvatum

Carpal bone malsegmentation

Synostosis of carpal bones

Joint contracture of the hand

Elbow ankylosis

Limited elbow movement

Limited elbow extension

Rhizomelic arm shortening

Prominent crus of helix

Flexion contracture

Camptodactyly

Joint hypermobility

Cervical C5/C6 vertebrae fusion

Delayed epiphyseal ossification

Abnormal pelvic girdle bone morphology

Hip dysplasia

Narrow pelvis bone

Lateral clavicle hook

Supernumerary ribs

Thin ribs

Pectus carinatum

Pectus excavatum

Narrow chest

Hyperlordosis

Scoliosis

Abnormal form of the vertebral bodies

Abnormality of the cervical spine

C1-C2 vertebral abnormality

Osteopenia

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

abnormal osteoblast differentiation

enhanced osteoblast differentiation

abnormal osteoclast differentiation

abnormal osteoblast proliferation

increased osteoblast proliferation

abnormal osteoblast physiology

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 nasal septum cartilage morphology

decreased osteoclast cell number

short humerus

short radius

short femur

short tibia

caudal vertebral fusion

abnormal tracheal cartilage morphology

fused tracheal cartilage rings

abnormal appendicular skeleton morphology

abnormal clavicle morphology

abnormal long bone epiphyseal ossification zone morphology

abnormal long bone epiphyseal plate proliferative zone

abnormal long bone hypertrophic chondrocyte zone

decreased width of hypertrophic chondrocyte zone

abnormal long bone epiphysis morphology

abnormal long bone metaphysis morphology

abnormal scapula morphology

absent acromion

small scapula

abnormal sternum morphology

abnormal sternebra morphology

abnormal sternum manubrium morphology

split sternal manubrium

abnormal sternum ossification

abnormal xiphoid process morphology

split xiphoid process

split sternum

abnormal pelvic girdle bone morphology

abnormal ilium morphology

abnormal ischium morphology

absent pubis

abnormal axial skeleton morphology

abnormal thoracic vertebrae morphology

abnormal vertebrae morphology

abnormal cervical vertebrae morphology

cervical vertebral fusion

abnormal vertebrae development

absent vertebral spinous process

vertebral fusion

decreased bone mineral density

decreased bone volume

decreased osteoblast cell number

increased osteoblast cell number

abnormal trabecular bone morphology

abnormal cartilage morphology

abnormal cartilage development

abnormal synchondrosis

abnormal chondrocyte morphology

abnormal joint morphology

fused joints

abnormal skeleton development

synostosis

abnormal skeleton physiology

abnormal bone ossification

abnormal endochondral bone ossification

delayed intramembranous bone ossification

delayed cranial suture closure

premature intramembranous bone ossification

premature cranial suture closure

premature coronal suture closure

premature lambdoid suture closure

premature squamoparietal suture closure

premature facial suture closure

premature maxillary-premaxillary suture closure

premature palatomaxillary suture closure

premature zygomaticomaxillary suture closure

premature frontonasal suture closure

delayed bone ossification

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^tm2Ewj/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)
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