Bilateral microtia
Gene: FGFR2Comment on mode of inheritance: MOI for other phenotypes included both monoallelic and biallelicCreated: 10 Jan 2017, 3:33 p.m.
Comment on phenotypes: Also associated with Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis 207410 AR; 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;
Pfeiffer syndrome 101600 AD;
Saethre-Chotzen syndrome 101400 AD;
Scaphocephaly and Axenfeld-Rieger anomaly;
Scaphocephaly, maxillary retrusion, and mental retardation 609579
Created: 10 Jan 2017, 3:32 p.m.
Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes
#101200:Apert syndrome [Deceleration of linear growth during childhood; Normal birth weight; Normal birth length; Acrobrachycephaly; Turribrachycephaly; Large fontanel; Late-closing fontanel; Megalencephaly; High, broad forehead; Flat face; Midface hypoplasia; Mandibular prognathism; Hearing loss; Chronic otitis media; Abnormal semicircular canals; Shallow orbits; Hypertelorism; Downslanting palpebral fissures; Proptosis; Depressed nasal bridge; Choanal stenosis or atresia; Strabismus; Narrow palate; Cleft palate; Bifid uvula; Malocclusion; Delayed dental eruption; Ventricular septal defect; Overriding aorta; Anomalous tracheal cartilage; Pyloric stenosis; Esophageal atresia; Ectopic anus; Cryptorchidism; Vaginal atresia; Hydronephrosis; Craniosynostosis (coronal); Jugular foraminal stenosis; Cervical vertebrae fusion, usually at C5 to C6; Synostosis of radius and humerus; Fusion of carpal bones, especially capitate and hamate; Symmetric osseous and/or cutaneous syndactyly of hands; Broad distal phalanx of thumb; Polydactyly, preaxial (rare); Polydactyly, postaxial (rare); Symmetric osseous and/or cutaneous syndactyly of feet; Broad distal hallux; Polydactyly, preaxial (rare); Polydactyly, postaxial (rare); Moderate to severe acne; Single nail common to digits 2 to 4; Variable mental retardation; Agenesis of the corpus callosum; Ventriculomegaly; Absent septum pellucidum; Limbic malformations; Chiari I malformation; Low-lying cerebellar tonsils; Posterior fossa arachnoid cyst; Hydrocephalus]; #101400:Saethre-Chotzen syndrome [Short stature; Brachycephaly; Acrocephaly; Flat face; High, flat forehead; Low frontal hairline; Maxillary hypoplasia; Facial asymmetry; Long and prominent ear crus; Small ears; Low-set ears; Apical cartilage deformity; Deafness; Shallow orbits; Hypertelorism; Plagiocephaly (asymmetry of orbits); Strabismus; Buphthalmos; Ptosis; S-shaped blepharoptosis; Lacrimal duct abnormalities; Thin, long, pointed nose; Beaked nose; Narrow palate; Cleft palate; Congenital heart defect; Intracranial hypertension due to multisutural cranial fusion; Late closing fontanelles; Craniosynostosis of coronal, lambdoid, and/or metopic sutures; Acrocephaly; Parietal foramina; Small ilia; Large ischia; Radioulnar synostosis; Mild syndactyly (often 2nd-3rd fingers); Bifid terminal phalanges digits 2 and 3; Absent first metatarsal; Brachydactyly; Fifth finger clinodactyly; Syndactyly (often 3rd-4th toes); Hallux valgus; Increased risk of breast cancer in women]; #101600:Pfeiffer syndrome [Turribrachycephaly; Clover-leaf skull (in some patients); Maxillary hypoplasia; Mandibular prognathism; Shallow orbits; Hypertelorism; Downslanting palpebral fissures; Proptosis; Strabismus; Small nose; Low nasal bridge; Choanal atresia or stenosis; High-arched palate; Dental crowding; Cartilaginous trachea; Laryngo-, tracheo-, bronchomalacia; Craniosynostosis (coronal with or without sagittal suture); Radiohumeral synostosis of elbow; Broad thumb; Partial syndactyly of fingers and toes; Brachymesophalangy of hands and feet; Broad great toe; Occasional mental retardation; Hydrocephalus; Arnold-Chiari malformation]; #123150:Jackson-Weiss syndrome [Midface hypoplasia; Craniosynostosis; Medially deviated, broad great toes; Cutaneous syndactyly of second and third toes; Short, broad metatarsal; Tarsonavicular and calcaneonavicular fusion]; #123500:Crouzon syndrome [Craniosynostosis; Brachycephaly; Frontal bossing; Maxillary hypoplasia; Mandibular prognathism; Conductive hearing loss; Atretic external auditory canals; Optic atrophy; Shallow orbits; Proptosis; Hypertelorism; Strabismus; Exposure conjunctivitis/keratitis; Poor vision; Parrot-like nose; Lateral palatal swellings; Dental crowding; Sleep apnea; Craniosynostosis (coronal, sagittal, lambdoid sutures); Calcification of stylohyoid ligament; Cervical spine abnormalities; Mental retardation, occasional; Seizures; Frequent headaches]; #123790:Beare-Stevenson cutis gyrata syndrome [Normal intrauterine growth; Midface hypoplasia; Low-set, posteriorly rotated ears; Preauricular skin furrows; Hypertelorism; Proptosis; Downslanting palpebral fissures; Choanal atresia; Choanal stenosis; Narrow palate; Respiratory distress; Prominent umbilical stump; Anteriorly placed anus; Bifid scrotum; Prominent scrotal raphe; Rugose labia majora; Craniosynostosis; Cloverleaf skull; Limited elbow extension; Cutis gyrata; Acanthosis nigricans; Cutaneous and mucosal skin tags; Furrowed palms and soles; Small nails; Hydrocephalus; Agenesis of the corpus callosum; Developmental delay]; #149730:LADD syndrome [Broad forehead; Simple, cup-shaped ears; Hearing loss, mixed conductive-sensorineural; Alacrima (dry eye syndrome); Nasolacrimal duct obstruction; Aplastic/hypoplastic lacrimal puncta; Aplastic/hypoplastic lacrimal glands; Hypertelorism; Telecanthus; Downslanting palpebral fissures; Dacryocystitis; Partially reduced visually acuity; Recurrent corneal ulcerations; Corneal perforation; Limbal stem cell deficiency; Corneal sensitivity impairment (hypesthesia); Absent Stensen duct; Absent parotid gland; Dry mouth; Oral candidiasis; Hypodontia; Peg-shaped incisors; Enamel hypoplasia; Delayed eruption of primary teeth; Dental caries, severe; Coronal hypospadias; Renal agenesis; Nephrosclerosis; Short radius; Short ulna; Preaxial polydactyly; Digitalized thumb; Triphalangeal thumb; Thenar muscle hypoplasia; Syndactyly, 2-3 finger; Clinodactyly, 3,5 finger; Bifid thumb; Broad halluces; Syndactyly, 2-3, 3-4 toe]; #207410:Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis [Brachycephaly; Large anterior fontanelle; Frontal bossing; Midface hypoplasia; Long philtrum; Dysplastic ears; Stenotic external auditory canals; Proptosis; Depressed nasal bridge; Choanal atresia or choanal stenosis; Atrial septal defect; Upper airway obstruction; Narrow chest; Craniosynostosis, coronal and lambdoidal; Narrow pelvis; Radiohumeral synostosis; Femoral bowing; Neonatal femoral fractures; Ulnar bowing; Joint contractures; Arachnodactyly; Camptodactyly; Rocker-bottom feet; Variable mental retardation; Hydrocephalus]; #609579:Scaphocephaly, maxillary retrusion, and mental retardation [; <omim version=1.0>; <clinicalSynopsisList>]; #613659:Gastric cancer, somatic [; <omim version=1.0>; <clinicalSynopsisList>]; #614592:Bent bone dysplasia syndrome [Open metopic suture; Midface hypoplasia; Micrognathia; Low-set ears; Overfolded superior helix; Deficient auricle; Hypertelorism; Megalophthalmos; Gingival hyperplasia; Prenatal teeth; Bell-shaped thorax; Hypoplastic clavicles; Decreased mineralization of inferior margin of scapula; Hepatosplenomegaly (rare); Hepatosplenomegaly (rare); Clitoromegaly; Diminished mineralization of the calvarium; Coronal craniosynostosis; Narrow acetabular roof; Narrowed ischia; Decreased mineralization of pubis; Bending of long bones to varying degrees, particularly femora; Prominent periosteum; Brachydactyly; Areas of periosteal reaction; Areas of deficient ossification; Hirsutism; Hepatosplenomegaly, with extramedullary hematopoiesis (rare)]; #:Scaphocephaly and Axenfeld-Rieger anomaly [<html><head><title>Apache Tomcat/8.0.30 - Error report; H1H2H3BODYBPAA.name.line; <h1>HTTP Status 400 - Failed to handle the request, exception: 'java.lang.IllegalArgumentException: A mim number is required to get a clinical synopsis.'.; <b>type; <b>message; Failed to handle the request, exception: 'java.lang.IllegalArgumentException: A mim number is required to get a clinical synopsis.'.; <b>description; The request sent by the client was syntactically incorrect.; <h3>Apache Tomcat/8.0.30]
Publications
MIM 149730Created: 3 Feb 2016, 4:58 p.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Causes LADD syndrome (lacrimo auriculo dento digital); syndromic features
Publications
Mode of inheritance for FGFR2 was changed to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for FGFR2 were set to Bilateral Microtia; LADD syndrome 149730
This gene has been classified as Green List (High Evidence).
Mode of inheritance for FGFR2 was changed to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mode of pathogenicity for FGFR2 was changed to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments
Publications for FGFR2 were set to 16501574
This gene has been classified as Green List (High Evidence).
FGFR2 was added to Bilateral Microtiapanel. Sources: Expert list