Not currently registered for phenotyping at IMPC

Phenotyping is currently not planned for a knockout strain of this gene.

Gene Summary

fibroblast growth factor receptor 2
Bek,  KGFRTr,  Fgfr-7,  Fgfr-2,  Fgfr7,  svs,  Fgfr2b

IMPC Data Collections

  • No Body Weight Data
  • No Embryo Imaging Data
  • No Viability Data

IMPC Phenotype Summary

Not Significant
Not tested


The IMPC applies a panel of phenotyping screens to characterise single-gene knockout mice by comparison to wild types. Click on the different tabs to visualise significant phenotypes identified by the IMPC, as well as all data that was measured.

lacZ Expression

Expression data not available

Associated Images

Images submitted by IMPC centres for a selection of procedures. Each set of images is available to view in our image comparator.

Phenotype associated images not available

Human diseases caused by Fgfr2 mutations

The analysis uses data from IMPC, along with published data on other mouse mutants, in comparison to human disease reports in OMIM, Orphanet, and DECIPHER.

Phenotype comparisons summarize the similarity of mouse phenotypes with human disease phenotypes.

The table below shows human diseases associated to Fgfr2 by orthology or direct annotation.

Disease Similarity of
Matching phenotypes Source
Pfeiffer Syndrome
Broad thumb, Choanal stenosis, Dental crowding, Mandibular prognathia, Choanal atresia, Downslant... OMIM:101600
Apert Syndrome
Cryptorchidism, Anomalous tracheal cartilage, Narrow palate, Choanal stenosis, Large fontanelles,... OMIM:101200
Lacrimoauriculodentodigital Syndrome
Enamel hypoplasia, Cryptorchidism, Carious teeth, Abnormal dental enamel morphology, Scoliosis, C... ORPHA:2363
Crouzon Syndrome
Sleep apnea, Hypertelorism, Lambdoidal craniosynostosis, Abnormal nasopharynx morphology, Dental ... OMIM:123500
Apert Syndrome
Narrow palate, Broad thumb, Ovarian neoplasm, Large fontanelles, Mandibular prognathia, Choanal a... ORPHA:87
Saethre-Chotzen Syndrome
Narrow palate, Lambdoidal craniosynostosis, Oxycephaly, Shallow orbits, Hallux valgus, Hypoplasia... OMIM:101400
Antley-Bixler Syndrome
Craniosynostosis, Narrow mouth, Narrow chest, Choanal atresia, Joint stiffness, Abnormality of th... ORPHA:83
Familial Scaphocephaly Syndrome, Mcgillivray Type
Open bite, Hypertelorism, Midface retrusion, Mandibular prognathia, Trigonocephaly, High palate, ... ORPHA:168624
Saethre-Chotzen Syndrome
Scoliosis, Cryptorchidism, Open bite, Craniosynostosis, Broad thumb, Narrow palate, Abnormality o... ORPHA:794
Lacrimoauriculodentodigital Syndrome
Enamel hypoplasia, Carious teeth, Absent proximal phalanx of thumb, Dacryocystitis, Nephroscleros... OMIM:149730
Crouzon Disease
Convex nasal ridge, Narrow palate, Hypertelorism, Narrow internal auditory canal, Frontal bossing... ORPHA:207
Jackson-Weiss Syndrome
Hypertelorism, Frontal bossing, Midface retrusion, Mandibular prognathia, Abnormal palate morphol... ORPHA:1540
Bent Bone Dysplasia Syndrome
Hypertelorism, Midface retrusion, Gingival overgrowth, Coronal craniosynostosis, Micrognathia, Ma... OMIM:614592
Cutis Gyrata-Acanthosis Nigricans-Craniosynostosis Syndrome
Cryptorchidism, Craniosynostosis, Narrow palate, Narrow mouth, Prominent scrotal raphe, Choanal a... ORPHA:1555
Jackson-Weiss Syndrome
Craniosynostosis, Short metatarsal, Hallux varus, Midface retrusion, Broad metatarsal, 2-3 toe sy... OMIM:123150
Fgfr2-Related Bent Bone Dysplasia
Steep acetabular roof, Incomplete ossification of pubis, Hypertelorism, Midface retrusion, Decrea... ORPHA:313855
Antley-Bixler Syndrome Without Genital Anomalies Or Disordered Steroidogenesis
Lambdoidal craniosynostosis, Choanal stenosis, Narrow chest, Camptodactyly, Choanal atresia, Ulna... OMIM:207410
Pfeiffer Syndrome Type 1
Short hallux, Broad thumb, Toe syndactyly, Hypertelorism, Finger syndactyly, Hallux varus, Midfac... ORPHA:93258
Scaphocephaly, Maxillary Retrusion, And Mental Retardation
Dolichocephaly OMIM:609579
Pfeiffer Syndrome Type 2
Broad thumb, Broad hallux phalanx, Atresia of the external auditory canal, Choanal atresia, Intes... ORPHA:93259
Pfeiffer Syndrome Type 3
Broad thumb, Broad hallux phalanx, Choanal atresia, Intestinal malrotation, Vesicoureteral reflux... ORPHA:93260
Beare-Stevenson Cutis Gyrata Syndrome
Craniosynostosis, Narrow palate, Narrow mouth, Prominent scrotal raphe, Palmoplantar cutis laxa, ... OMIM:123790
Gastric Cancer
Stomach cancer, Increased level of L-fucose in urine OMIM:613659

The table below shows human diseases predicted to be associated to Fgfr2 by phenotypic similarity.

Disease Similarity of
Matching phenotypes Source
Salivary Gland Adenoma, Pleomorphic
Salivary gland neoplasm OMIM:181030
Testicular Microlithiasis
Testicular microlithiasis OMIM:610441
Testicular Torsion
Torsion of appendix of testis, Testicular torsion OMIM:187400
Orofacial Cleft 11
Cleft lip, Cleft palate OMIM:600625
Cleft palate OMIM:119550
Craniosynostosis 1
Craniosynostosis, Oxycephaly, Dolichocephaly, Scaphocephaly, Turricephaly OMIM:123100
Elbow ankylosis, Craniosynostosis, Cloverleaf skull, Proptosis OMIM:148800
Cleft Palate With Or Without Ankyloglossia, X-Linked
Bifid uvula, Ankyloglossia, Cleft palate OMIM:303400
Isolated Oxycephaly
Oxycephaly, Lambdoidal craniosynostosis, Coronal craniosynostosis, Sagittal craniosynostosis ORPHA:63440
Isolated Pierre Robin Syndrome
Glossoptosis, Abnormality of the pharynx, Cleft palate ORPHA:718
Hydrocephalus, Autosomal Dominant
Cerebellar vermis hypoplasia, Hydrocephalus, Dandy-Walker malformation, Sagittal craniosynostosis OMIM:123155
Pulmonary Hypoplasia, Primary
Neonatal death, Pulmonary hypoplasia OMIM:265430
Osteosclerosis-Developmental Delay-Craniosynostosis Syndrome
Craniosynostosis, Hypertelorism, Thickened calvaria, Increased bone mineral density, Broad jaw, B... ORPHA:178377
Oligodontia, Abnormality of dental morphology, Bone cyst, Abnormality of the dentition, Proptosis... ORPHA:184
Pierre Robin Syndrome
Pierre-Robin sequence, Glossoptosis, Cleft palate OMIM:261800
Craniosynostosis, Calcification Of Basal Ganglia, And Facial Dysmorphism
Craniosynostosis, Proptosis, Hypoplasia of the maxilla OMIM:608432
Congenital Laryngomalacia
Cleft palate, Non-midline cleft lip, Laryngomalacia ORPHA:2373
Craniosynostosis-Dandy-Walker Malformation-Hydrocephalus Syndrome
Orbital craniosynostosis, Hypertelorism, Frontal bossing, Dolichocephaly, Micrognathia ORPHA:1538
Van Der Woude Syndrome 2
Cleft palate, Cleft upper lip, Anodontia OMIM:606713
Chudley-Mccullough Syndrome
Hypoplasia of the corpus callosum, Ventriculomegaly, Cerebellar hypoplasia, Cerebellar dysplasia,... OMIM:604213
Geographic And Fissured Tongue
Furrowed tongue, Geographic tongue OMIM:137400
Shprintzen-Goldberg Craniosynostosis Syndrome
Scoliosis, Cryptorchidism, Joint hypermobility, Craniosynostosis, Narrow palate, Joint laxity, Ca... OMIM:182212
Enamel hypoplasia, Oligodontia, Agenesis of maxillary lateral incisor, Hypoplasia of teeth, Oral ... ORPHA:99798
Cheilitis Glandularis
Thick lower lip vermilion, Abnormal salivary gland morphology ORPHA:1221
Marshall-Smith Syndrome
Scoliosis, Accelerated skeletal maturation, Prominence of the premaxilla, Choanal stenosis, Overf... OMIM:602535
Palatopharyngeal Incompetence
Velopharyngeal insufficiency, Cleft palate OMIM:167500
Ossification Anomalies-Psychomotor Developmental Delay Syndrome
Clubbing of fingers, Generalized bone demineralization, Narrow chest, Large fontanelles, Abnormal... ORPHA:73230
Cleft, Median, Of Upper Lip With Polyps Of Facial Skin And Nasal Mucosa
Bifid uvula, High palate, Nasal polyposis, Median cleft lip OMIM:155145
Hearing Loss-Familial Salivary Gland Insensitivity To Aldosterone Syndrome
Abnormal salivary gland morphology ORPHA:3225
Craniosynostosis 7
Craniosynostosis OMIM:617439
Craniosynostosis 5, Susceptibility To
Craniosynostosis OMIM:615529
Trichodentoosseous Syndrome
Frontal bossing, Taurodontia, Dolichocephaly, Increased bone mineral density, Microdontia, Widely... OMIM:190320
Palant Cleft Palate Syndrome
Exaggerated cupid's bow, Bulbous nose, Cleft palate OMIM:260150
Cleft Palate, Cardiac Defect, Genital Anomalies, And Ectrodactyly
Cryptorchidism, Hypoplastic helices, Ventricular septal defect, Absent pulmonary artery, Split ha... OMIM:600460
Osteoglophonic Dysplasia
Cryptorchidism, Craniosynostosis, Short metatarsal, Short phalanx of finger, Chordee, Mandibular ... OMIM:166250
Tongue, Pigmented Fungiform Papillae Of
Abnormality of the tongue OMIM:275250
Orofacial Cleft 10
Unilateral cleft lip, Unilateral cleft palate OMIM:613705
Orofacial Cleft 5
Cleft upper lip, Cleft palate OMIM:608874
Orofacial Cleft 6, Susceptibility To
Cleft upper lip, Cleft palate OMIM:608864
Orofacial Cleft 1
Cleft upper lip, Cleft palate OMIM:119530
Craniosynostosis And Dental Anomalies
Delayed eruption of teeth, Craniosynostosis, Hypertelorism, Lambdoidal craniosynostosis, Sagittal... OMIM:614188
Pierre Robin Sequence With Facial And Digital Anomalies
Pierre-Robin sequence, Glossoptosis, Cleft palate OMIM:311895
Isolated Cloverleaf Skull Syndrome
Craniosynostosis, Midface retrusion, Proptosis, Malar flattening, Limitation of joint mobility ORPHA:2343
Oxycephaly, Craniosynostosis, Turricephaly OMIM:123050
Multiple Epiphyseal Dysplasia, Lowry Type
Scoliosis, Genu valgum, Abnormal bone ossification, Broad nasal tip, Elbow dislocation, Upslanted... ORPHA:166016
Thoc6-Related Developmental Delay-Microcephaly-Facial Dysmorphism Syndrome
Carious teeth, Camptodactyly, Patent ductus arteriosus, Recurrent urinary tract infections, Thin ... ORPHA:363444
Pai Syndrome
Nasal polyposis, Midline defect of the nose, Cleft palate, Abnormal oral frenulum morphology, Bif... ORPHA:1993
Amelogenesis Imperfecta
Enamel hypoplasia, Abnormality of dental color, Hypoplasia of teeth, Taurodontia, Multiple unerup... ORPHA:88661
Ulna And Fibula, Absence Of, With Severe Limb Deficiency
Aplastic pubic bones, Cryptorchidism, Narrow palate, Split hand, Scrotal hypoplasia, Hemivertebra... OMIM:276820
Bartsocas-Papas Syndrome 1
Arthrogryposis multiplex congenita, Short phalanx of finger, Underdeveloped nasal alae, Ankyloble... OMIM:263650
Deafness-Craniofacial Syndrome
Short lingual frenulum, Underdeveloped nasal alae, Wide nasal bridge OMIM:125230
Tetraamelia Syndrome 2
Hypoplastic pulmonary veins, Ankyloglossia, Glossoptosis, Bilateral cleft lip OMIM:618021
Pfeiffer Syndrome
Broad thumb, Choanal stenosis, Dental crowding, Mandibular prognathia, Choanal atresia, Downslant... OMIM:101600
Cleidocranial Dysplasia
Scoliosis, Wormian bones, Carious teeth, Abnormal dental enamel morphology, Open bite, Large font... ORPHA:1452
Frontometaphyseal Dysplasia 1
Scoliosis, Hydroureter, Partial fusion of carpals, Long phalanx of finger, Wrist flexion contract... OMIM:305620
Van Der Woude Syndrome
Abnormal salivary gland morphology, Lip pit, Hypodontia, Cleft upper lip, Cleft palate, Lower lip... ORPHA:888
Hypophosphatasia, Childhood
Carious teeth, Craniosynostosis, Frontal bossing, Proptosis, Premature loss of primary teeth, Dol... OMIM:241510
Isolated Brachycephaly
Hypertelorism, Midface retrusion, Metacarpal synostosis, Proptosis, Brachycephaly ORPHA:35099
Au-Kline Syndrome
Scoliosis, Cryptorchidism, Oligodontia, Craniosynostosis, Open mouth, Downturned corners of mouth... OMIM:616580
Melkersson-Rosenthal Syndrome
Furrowed tongue OMIM:155900
Trigonocephaly 2
Hypertelorism, Trigonocephaly, Metopic synostosis OMIM:614485
Moebius Syndrome
Absent hand, Arthrogryposis multiplex congenita, Open mouth, Aplasia/Hypoplasia of the tongue, De... ORPHA:570
Robinow Syndrome, Autosomal Dominant 2
Broad thumb, Dental crowding, Short distal phalanx of finger, Partial duplication of the phalanx ... OMIM:616331
Cousin Syndrome
Camptodactyly, Hypoplastic ischia, Wrist flexion contracture, Long clavicles, Alveolar ridge over... OMIM:260660
Autosomal Recessive Distal Osteolysis Syndrome
Osteolysis, Midface retrusion, Abnormality of the dentition, Proptosis, Hypoplasia of the maxilla ORPHA:2776
Muenke Syndrome
Broad thumb, Short middle phalanx of toe, Hypertelorism, Midface retrusion, Short middle phalanx ... OMIM:602849
Robin Sequence-Oligodactyly Syndrome
Glossoptosis, Abnormality of the dentition, Cleft palate ORPHA:3104
Kniest Dysplasia
Laryngotracheomalacia, Joint stiffness, Delayed epiphyseal ossification, Abnormal cartilage colla... ORPHA:485
Osteolysis Syndrome, Recessive
Osteolytic defects of the distal phalanges of the hand, Osteolytic defects of the middle phalange... OMIM:259610
Summitt Syndrome
Oxycephaly, Craniosynostosis OMIM:272350
Lethal Congenital Contracture Syndrome 3
Neonatal death, Arthrogryposis multiplex congenita, Multiple joint contractures, Respiratory insu... OMIM:611369
Crouzon Syndrome With Acanthosis Nigricans
Craniosynostosis, Hypertelorism, Midface retrusion, Proptosis, Brachycephaly OMIM:612247
Cryptorchidism, Unilateral Or Bilateral
Cryptorchidism, Unilateral cryptorchidism OMIM:219050
Short Stature, Auditory Canal Atresia, Mandibular Hypoplasia, And Skeletal Abnormalities
Dislocated radial head, Cryptorchidism, Talipes equinovarus, Scapulohumeral synostosis, Narrow mo... OMIM:602471
Craniosynostosis, Philadelphia Type
Craniosynostosis ORPHA:1527
Apert Syndrome
Cryptorchidism, Anomalous tracheal cartilage, Narrow palate, Choanal stenosis, Large fontanelles,... OMIM:101200
Fibrochondrogenesis 1
Narrow mouth, Camptodactyly, Hypoplastic ischia, Narrow greater sciatic notch, Short neck, Thin c... OMIM:228520
Microcephalic Osteodysplastic Primordial Dwarfism, Type Ii
Enamel hypoplasia, Narrow chest, Short distal phalanx of finger, Type II diabetes mellitus, Ulnar... OMIM:210720
Granulomas, Congenital Cerebral
Neonatal death OMIM:306300
Genitourinary Tract Anomalies
Neonatal death OMIM:305690
Craniosynostosis OMIM:109050
Ankyloblepharon Filiforme Adnatum-Imperforate Anus Syndrome
Cleft palate, Cryptorchidism, Non-midline cleft lip, Tooth agenesis ORPHA:1074
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency
Abnormality of the antihelix, Craniosynostosis, Tarsal synostosis, Narrow mouth, Decreased circul... ORPHA:95699
Developmental Delay With Short Stature, Dysmorphic Facial Features, And Sparse Hair
Craniosynostosis, Hypertelorism, Abnormality of the dentition, Trigonocephaly, Micrognathia, Scap... OMIM:616901
Kbg Syndrome
Scoliosis, Cryptorchidism, Oligodontia, Underdeveloped nasal alae, Thoracic kyphosis, Persistent ... ORPHA:2332
Lowry-Maclean Syndrome
Delayed eruption of teeth, Convex nasal ridge, Craniosynostosis, Cleft palate, Intrauterine growt... OMIM:600252
Mandibuloacral Dysplasia With Type A Lipodystrophy
Osteolytic defects of the distal phalanges of the hand, Acroosteolysis of distal phalanges (feet)... ORPHA:90153
Intellectual Disability, Wolff Type
Scoliosis, Cryptorchidism, Broad thumb, Bulbous nose, Short distal phalanx of finger, Oral cleft,... ORPHA:3080
Sin3A-Related Intellectual Disability Syndrome Due To A Point Mutation
Joint hypermobility, Ventriculomegaly, Abnormal cerebral white matter morphology, Dysplastic corp... ORPHA:500166
Schinzel-Giedion Syndrome
Scoliosis, Wormian bones, Choanal stenosis, Camptodactyly, Abnormality of the stapes, Abnormal th... ORPHA:798
Rubinstein-Taybi Syndrome 2
Convex nasal ridge, Carious teeth, Posterior helix pit, Narrow palate, Broad thumb, Intestinal ma... OMIM:613684
Primary Condylar Hyperplasia
Anterior open-bite malocclusion, Abnormal mandible condylar process morphology, Macrodontia, Abno... ORPHA:477781
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome
Scoliosis, Joint hypermobility, Multiple joint dislocation, Craniosynostosis, Carious teeth, Thin... ORPHA:536467
Congenital Velopharyngeal Incompetence
Abnormal palate morphology, Velopharyngeal insufficiency, Abnormality of the pharynx ORPHA:2291
Lethal Osteosclerotic Bone Dysplasia
Mandibular aplasia, Median cleft lip and palate, Gingival fibromatosis, Short nose, Large fontane... ORPHA:1832
Cerebral cortical atrophy, Agenesis of corpus callosum, Schizencephaly OMIM:269160
Meier-Gorlin Syndrome 1
Cryptorchidism, Absent glenoid fossa, Joint laxity, Narrow mouth, Elbow dislocation, Thin skin, C... OMIM:224690
Ear-Patella-Short Stature Syndrome
Anotia, Cryptorchidism, Craniosynostosis, Narrow mouth, Elbow dislocation, Atresia of the externa... ORPHA:2554
Larsen-Like Osseous Dysplasia-Short Stature Syndrome
Scoliosis, Hip dysplasia, Thin vermilion border, Short nose, Narrow mouth, Abnormal form of the v... ORPHA:2370
Auriculocondylar Syndrome 2
Short mandibular rami, Narrow mouth, Ankylosis, Dental crowding, Overfolding of the superior heli... OMIM:614669
Cardiospondylocarpofacial Syndrome
Scoliosis, Tarsal synostosis, Joint laxity, Pseudoepiphyses, Vesicoureteral reflux, Decreased tes... OMIM:157800
Atelosteogenesis, Type I
Cryptorchidism, Short metatarsal, Narrow chest, Elbow dislocation, Thoracic platyspondyly, Multin... OMIM:108720
Craniostenosis, Sagittal, With Congenital Heart Disease, Mental Deficiency, And Mandibular Ankylosis
Micrognathia, Trismus, Sagittal craniosynostosis OMIM:218450
Microcephaly-Cervical Spine Fusion Anomalies Syndrome
Hyperlordosis, Convex nasal ridge, Abnormal clavicle morphology, Abnormality of dental morphology... ORPHA:2522
Pelvis-Shoulder Dysplasia
Bilateral external ear deformity, Hypoplastic ischia, Acetabular dysplasia, Micrognathia, Fifth f... ORPHA:2839
Ankyloblepharon Filiforme Adnatum And Cleft Palate
Cleft upper lip, Cleft palate OMIM:106250
Catel-Manzke Syndrome
Cryptorchidism, Joint laxity, Camptodactyly, Ulnar deviation of the 2nd finger, Hyperphalangy of ... OMIM:616145
3M Syndrome
Scoliosis, Abnormal dental enamel morphology, Congenital hip dislocation, Bulbous nose, Enlarged ... ORPHA:2616
Fraser Syndrome 1
Cryptorchidism, Underdeveloped nasal alae, Dental crowding, Calvarial skull defect, Upper eyelid ... OMIM:219000
Craniosynostosis 2
Unicoronal synostosis, Craniosynostosis, Frontal bossing, Trigonocephaly, Brachycephaly, Supernum... OMIM:604757
Ritscher-Schinzel Syndrome 1
Hemivertebrae, Double outlet right ventricle, Downslanted palpebral fissures, Low posterior hairl... OMIM:220210
14Q24.1Q24.3 Microdeletion Syndrome
Cryptorchidism, Joint laxity, Intestinal malrotation, Short thumb, Downslanted palpebral fissures... ORPHA:401935
Fallot Complex-Intellectual Disability-Growth Delay Syndrome
Clubbing of fingers, Cryptorchidism, Unilateral ptosis, Patent ductus arteriosus, Double outlet r... ORPHA:3304
Lacrimoauriculodentodigital Syndrome
Enamel hypoplasia, Cryptorchidism, Carious teeth, Abnormal dental enamel morphology, Scoliosis, C... ORPHA:2363
De Barsy Syndrome
Cryptorchidism, Delayed closure of the anterior fontanelle, Wormian bones, Congenital hip disloca... ORPHA:2962
46,Xy Sex Reversal 4
Sex reversal, Gonadal dysgenesis OMIM:154230
Otopalatodigital Syndrome Type 1
Oligodontia, Elbow dislocation, Hypoplastic frontal sinuses, Increased bone mineral density, Abno... ORPHA:90650
Acro-Renal-Mandibular Syndrome
Scoliosis, Split hand, Aplasia/Hypoplasia of the tongue, Hemivertebrae, Oral cleft, Bicornuate ut... ORPHA:958
Macrosomia With Microphthalmia, Lethal
Respiratory infections in early life, Median cleft palate OMIM:248110
Ulnar-Mammary Syndrome
Absent hand, Cryptorchidism, Short distal phalanx of finger, Abnormality of the metacarpal bones,... ORPHA:3138
Amelogenesis Imperfecta, Hypomaturation Type, Iia1
Amelogenesis imperfecta, Carious teeth, Abnormal dental enamel morphology, Anterior open-bite mal... OMIM:204700
Burn-Mckeown Syndrome
Thin vermilion border, Narrow mouth, Underdeveloped nasal alae, Hypomimic face, Mandibular progna... OMIM:608572
Crouzon Syndrome
Sleep apnea, Hypertelorism, Lambdoidal craniosynostosis, Abnormal nasopharynx morphology, Dental ... OMIM:123500
Sandestig-Stefanova Syndrome
Camptodactyly, Sparse medial eyebrow, Laterally extended eyebrow, Oral cleft, High palate, Short ... OMIM:618804
Hadziselimovic Syndrome
Prominent nasal bridge, Low anterior hairline, Atrial septal defect, Ventricular hypertrophy, Ven... OMIM:612946
Spondyloepimetaphyseal Dysplasia Congenita, Strudwick Type
Platyspondyly, Carious teeth, Maternal diabetes, Abnormal vertebral morphology, Laryngotracheomal... ORPHA:93346
Trigonocephaly-Short Stature-Developmental Delay Syndrome
Metopic suture patent to nasal root, High palate, Secondary microcephaly, Small anterior fontanel... ORPHA:3369
Multiple Pterygium Syndrome, Escobar Variant
Scoliosis, Cryptorchidism, Arthrogryposis multiplex congenita, Anterior clefting of vertebral bod... OMIM:265000
Craniofrontonasal Dysplasia
Scoliosis, Craniosynostosis, Broad hallux phalanx, Widow's peak, Sandal gap, Oral cleft, Sensorin... ORPHA:1520
Dentin Dysplasia, Type I
Abnormality of dental morphology, Taurodontia, Dentinogenesis imperfecta limited to primary teeth... OMIM:125400
Lipoid Proteinosis
Tongue nodules, Nasal polyposis, Microglossia, Abnormal oral mucosa morphology, Abnormality of th... ORPHA:530
46,Xy Sex Reversal 9
Sex reversal, Ambiguous genitalia, Gonadal dysgenesis, Fused labia minora OMIM:616067
Cleft Palate, Isolated
Anterior open-bite malocclusion, Increased overbite, Gingival overgrowth, Cleft palate, Micrognathia OMIM:119540
Ankyloglossia With Or Without Tooth Anomalies
Ankyloglossia, Supernumerary tooth OMIM:106280
Fraser Syndrome
Cryptorchidism, Underdeveloped nasal alae, Dental crowding, Calvarial skull defect, Atresia of th... ORPHA:2052
Structural Brain Anomalies With Impaired Intellectual Development And Craniosynostosis
Delayed closure of the anterior fontanelle, Agenesis of corpus callosum, Lambdoidal craniosynosto... OMIM:618736
Marbach-Rustad Progeroid Syndrome
Convex nasal ridge, Delayed eruption of primary teeth, Wormian bones, Narrow mouth, Femur fractur... OMIM:619322
Multicentric Carpotarsal Osteolysis Syndrome
Metatarsal osteolysis, Metacarpal osteolysis, Proptosis, Carpal osteolysis, Osteolysis involving ... OMIM:166300
Pierre Robin Syndrome And Oligodactyly
Pierre-Robin sequence, Cleft palate OMIM:172880
Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly
Narrow chest, Polydactyly, Postaxial polydactyly, Short distal phalanx of finger, Flat acetabular... OMIM:614091
Noonan Syndrome-Like Disorder With Loose Anagen Hair 2
Cryptorchidism, Joint hypermobility, Craniosynostosis, Underdeveloped nasal alae, Overfolded heli... OMIM:617506
Coffin-Lowry Syndrome
Scoliosis, Delayed closure of the anterior fontanelle, Narrow palate, Open mouth, Mandibular prog... OMIM:303600
Greig Cephalopolysyndactyly Syndrome
Craniosynostosis, Broad thumb, 1-3 toe syndactyly, Broad hallux phalanx, Trigonocephaly, Scaphoce... OMIM:175700
Platyspondylic Dysplasia, Torrance Type
Platyspondyly, Short thorax, Narrow chest, Hypoplastic pelvis, Hypoplastic scapulae, Bowing of th... ORPHA:85166
Scoliosis, Wormian bones, Carious teeth, Narrow palate, Persistent open anterior fontanelle, Abno... OMIM:265800
Short-Rib Thoracic Dysplasia 20 With Polydactyly
Narrow chest, Natal tooth, Hamartoma of tongue, Postaxial polydactyly, Horizontal ribs, Narrow gr... OMIM:617925
Short Rib-Polydactyly Syndrome
Abnormal ilium morphology, Nephronophthisis, Abnormality of long bone morphology, Gastrointestina... ORPHA:1505
Apert Syndrome
Narrow palate, Broad thumb, Ovarian neoplasm, Large fontanelles, Mandibular prognathia, Choanal a... ORPHA:87
Craniotelencephalic Dysplasia
Craniosynostosis, Frontal bossing, Hydrocephalus, Arrhinencephaly, Cerebellar hypoplasia, Septo-o... ORPHA:1528
Recombinant Chromosome 8 Syndrome
Scoliosis, Cryptorchidism, Downturned corners of mouth, Camptodactyly, Patent ductus arteriosus, ... OMIM:179613
Arachnodactyly-Abnormal Ossification-Intellectual Disability Syndrome
Apnea, Short nose, Frontal bossing, Thin calvarium, Midface retrusion, Aplasia/Hypoplasia of the ... ORPHA:1129
Mosaic Trisomy 14
Camptodactyly of finger, Cryptorchidism, Blepharophimosis, Frontal bossing, Narrow chest, Low-set... ORPHA:1703
Greig Cephalopolysyndactyly Syndrome
Postaxial hand polydactyly, Craniosynostosis, Broad thumb, Preaxial hand polydactyly, Toe syndact... ORPHA:380
Robinow Syndrome, Autosomal Recessive 1
Scoliosis, Cryptorchidism, Hypoplastic sacrum, Bifid distal phalanx of toe, Broad thumb, Dental c... OMIM:268310
Larsen Syndrome
Scoliosis, Cryptorchidism, Short metatarsal, Joint laxity, Elbow dislocation, Spina bifida occult... OMIM:150250
Nemaline Myopathy 9
High palate, Arthrogryposis multiplex congenita, Respiratory insufficiency, Cleft palate OMIM:615731
Aymé-Gripp Syndrome
Scoliosis, Cryptorchidism, Oligodontia, Craniosynostosis, Narrow mouth, Large fontanelles, Campto... ORPHA:1272
Variant Abeta2M Amyloidosis
Abnormality of the tongue, Cardiac amyloidosis, Intestinal perforation, Reduced ejection fraction... ORPHA:314652
Auriculocondylar Syndrome 3
Bifid uvula, Glossoptosis, Laryngeal cleft OMIM:615706
Bone Fragility With Contractures, Arterial Rupture, And Deafness
Scoliosis, Long philtrum, Platyspondyly, Talipes equinovarus, Short nose, Downturned corners of m... OMIM:612394
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 1
Dental crowding, Sandal gap, Spina bifida occulta, Downslanted palpebral fissures, High palate, L... OMIM:617877
Brachycephaly, Deafness, Cataract, Microstomia, And Mental Retardation
Scoliosis, Cryptorchidism, Narrow mouth, Camptodactyly, Pectus excavatum of inferior sternum, Dow... OMIM:601353
Craniofacial Dyssynostosis
Short philtrum, Craniosynostosis, Hypertelorism, Frontal bossing, Open mouth, Micrognathia, Umbil... ORPHA:1516
Microbrachycephaly-Ptosis-Cleft Lip Syndrome
Scoliosis, Large iliac wing, Large fontanelles, Mandibular prognathia, Abnormality of the metacar... ORPHA:2511
Dyssegmental Dysplasia, Silverman-Handmaker Type
Clubbing of fingers, Cryptorchidism, Narrow mouth, Narrow chest, Hirsutism, Hypoplastic ischia, B... ORPHA:1865
Postaxial Acrofacial Dysostosis
Cryptorchidism, Congenital hip dislocation, Choanal atresia, Short thumb, Eyelid coloboma, Downsl... OMIM:263750
Hypomandibular Faciocranial Dysostosis
Pursed lips, Aglossia, Coronal craniosynostosis, Micrognathia, Malar flattening, Hypoplasia of th... OMIM:241310
Intellectual Developmental Disorder With Cardiac Defects And Dysmorphic Facies
Scoliosis, Cryptorchidism, Patent ductus arteriosus, Pulmonary artery atresia, Double outlet righ... OMIM:618316
Encephalopathy With Intracranial Calcification, Growth Hormone Deficiency, Microcephaly, And Retinal Degeneration
Ventriculomegaly, Craniosynostosis, Cerebral calcification, Decreased response to growth hormone ... OMIM:225755
Osteogenesis Imperfecta, Type X
Scoliosis, Genu valgum, Platyspondyly, Joint laxity, Broad ribs, Generalized joint laxity, Microg... OMIM:613848
Fontaine Progeroid Syndrome
Scoliosis, Cryptorchidism, Oligodontia, Craniosynostosis, Narrow mouth, Mandibular prognathia, Sc... OMIM:612289
Spondyloepiphyseal Dysplasia, Nishimura Type
Abnormal femoral neck/head morphology, Downturned corners of mouth, Anterior plagiocephaly, Narro... ORPHA:163649
X-Linked Intellectual Disability, Stoll Type
Long philtrum, Hypertelorism, Malar flattening, Frontal bossing ORPHA:85326
Acrorenal-Mandibular Syndrome
Narrow palate, Narrow chest, Split hand, Hemivertebrae, Bicornuate uterus, Missing ribs, Congenit... OMIM:200980
Short-Rib Thoracic Dysplasia 12
Narrow chest, Natal tooth, Intestinal malrotation, Hamartoma of tongue, Anencephaly, Horizontal r... OMIM:269860
Aplastic pubic bones, Short thorax, Short iliac bones, Abnormality of mouth shape, Poorly ossifie... ORPHA:3003
Craniosynostosis, Herrmann-Opitz Type
Convex nasal ridge, Craniosynostosis, Hypertelorism, Short nose, Finger syndactyly, Split hand, M... ORPHA:2145
19Q13.11 Microdeletion Syndrome
Cryptorchidism, Thin vermilion border, Congenital hip dislocation, Underdeveloped nasal alae, Thi... ORPHA:217346
Klippel-Feil Syndrome 4, Autosomal Recessive, With Nemaline Myopathy And Facial Dysmorphism
Long philtrum, Bulbous nose, Underdeveloped nasal alae, Micrognathia, Everted lower lip vermilion... OMIM:616549
Craniosynostosis-Mental Retardation-Clefting Syndrome
Convex nasal ridge, Craniosynostosis, Oral cleft, Forearm undergrowth, Lower limb undergrowth, Mi... OMIM:218650
Aarskog-Scott Syndrome
Cryptorchidism, Oral cleft, Downslanted palpebral fissures, Short neck, Hypoplasia of the maxilla... ORPHA:915
Cranioectodermal Dysplasia
Osteoporosis, Abnormal dental enamel morphology, Craniosynostosis, Frontal bossing, Finger syndac... ORPHA:1515
Microcephaly-Polymicrogyria-Corpus Callosum Agenesis Syndrome
Ventriculomegaly, Cerebellar hypoplasia, Primary microcephaly, Polymicrogyria, Agenesis of corpus... ORPHA:171703
Cleidocranial Dysplasia
Scoliosis, Wormian bones, Enamel hypoplasia, Narrow palate, Narrow chest, Persistent open anterio... OMIM:119600
Summitt Syndrome
Camptodactyly of finger, Short 4th metacarpal, Craniosynostosis, Genu valgum, Hypertelorism, Fing... ORPHA:3210
Ablepharon Macrostomia Syndrome
Abnormality of skin pigmentation, Thin vermilion border, Underdeveloped nasal alae, Thin skin, At... ORPHA:920
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome
Scoliosis, Cryptorchidism, Oligodontia, Craniosynostosis, Underdeveloped nasal alae, Open mouth, ... ORPHA:453499
Acrofrontofacionasal Dysostosis
Broad thumb, Short distal phalanx of finger, Cerebral cortical atrophy, Eyelid coloboma, Downslan... ORPHA:1784
Multiple Synostoses Syndrome 3
Cubitus valgus, Humeroradial synostosis, Metacarpal synostosis, Limited interphalangeal movement,... OMIM:612961
Trisomy 4P
Scoliosis, Radial club hand, Cryptorchidism, Carious teeth, Abnormality of the antihelix, Wide in... ORPHA:1738
Barber-Say Syndrome
Delayed eruption of teeth, Bulbous nose, Ectropion, Redundant skin, Atresia of the external audit... ORPHA:1231
Tricho-Dento-Osseous Syndrome
Dental enamel pits, Obliteration of the calvarial diploe, Taurodontia, Frontal bossing, Periapica... ORPHA:3352
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 3
Cigarette-paper scars, Short phalanx of finger, Joint laxity, Thin skin, Downslanted palpebral fi... OMIM:612350
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion
Open bite, Cryptorchidism, Scoliosis, Craniosynostosis, Joint laxity, Underdeveloped nasal alae, ... ORPHA:352665
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation
Open bite, Cryptorchidism, Scoliosis, Craniosynostosis, Joint laxity, Underdeveloped nasal alae, ... ORPHA:453504
Hypospadias 3, Autosomal
Hypospadias OMIM:146450
Hypospadias 2, X-Linked
Penoscrotal hypospadias OMIM:300758
Hypospadias 1, X-Linked
Perineal hypospadias OMIM:300633
Acrocephalopolysyndactyly Type Iii
Craniosynostosis, Hypertelorism, Preaxial hand polydactyly, Broad thumb, Dental crowding, Oxyceph... OMIM:101120
Short Stature-Wormian Bones-Dextrocardia Syndrome
Camptodactyly of finger, Cryptorchidism, Midshaft hypospadias, Wormian bones, Abnormality of the ... ORPHA:2863
Campomelic Dysplasia
Poorly ossified cervical vertebrae, Micrognathia, Femoral bowing, Hydrocephalus, Depressed nasal ... OMIM:114290
Amelogenesis Imperfecta, Type Iiia
Amelogenesis imperfecta, Dental malocclusion, Anterior open-bite malocclusion OMIM:130900
Larsen-Like Syndrome
Hypertelorism, Joint laxity, Wide anterior fontanel, Frontal bossing, Radial deviation of the 4th... OMIM:608545
B4Galt7-Related Spondylodysplastic Ehlers-Danlos Syndrome
Cryptorchidism, Narrow mouth, Thin skin, Abnormality of primary teeth, Long toe, Skeletal muscle ... ORPHA:75496
Restrictive Dermopathy
Arthrogryposis multiplex congenita, Sparse eyebrow, Narrow mouth, Skin erosion, Natal tooth, Choa... ORPHA:1662
Kbg Syndrome
Cryptorchidism, Oligodontia, Underdeveloped nasal alae, Thoracic kyphosis, Widely-spaced maxillar... OMIM:148050
Chondrodysplasia With Joint Dislocations, Gpapp Type
Genu valgum, Short toe, Narrow mouth, Short nose, Short foot, Wide nasal bridge, Short metacarpal... OMIM:614078
Camptodactyly Syndrome, Guadalajara Type 1
Open bite, Narrow mouth, Downturned corners of mouth, Mandibular prognathia, Short distal phalanx... ORPHA:1327
Taurodontism, Microdontia, And Dens Invaginatus
Microdontia, Dens in dente, Pulp calcification, Taurodontia OMIM:313490
Sweeney-Cox Syndrome
Narrow mouth, Underdeveloped nasal alae, Overfolded helix, Upper eyelid coloboma, Widow's peak, C... OMIM:617746
Cardiocranial Syndrome, Pfeiffer Type
Cutaneous syndactyly of toes, Cryptorchidism, Small hypothenar eminence, Torticollis, Contracture... ORPHA:2872
10Q22.3Q23.3 Microdeletion Syndrome
Frontal bossing, Microretrognathia, Joint hyperflexibility, Upslanted palpebral fissure, Epicanth... ORPHA:276413
Oculocerebrocutaneous Syndrome
Cryptorchidism, Congenital hip dislocation, Calvarial skull defect, Short distal phalanx of finge... ORPHA:1647
Spondyloepiphyseal Dysplasia With Atlantoaxial Instability
Atlantoaxial instability, Joint laxity, Spondylolysis, Ankle clonus, Os odontoideum, Lumbar hyper... OMIM:600561
Pelviscapular Dysplasia
Humeroradial synostosis, Short femur, Short neck, Congenital hip dislocation, Blepharophimosis, L... ORPHA:93333
Uvula, Bifid
Bifid uvula OMIM:192100
Schinzel-Giedion Midface Retraction Syndrome
Increased density of long bones, Wormian bones, Choanal stenosis, Hydroureter, Short distal phala... OMIM:269150
Congenital Absence Of Upper Arm And Forearm With Hand Present
Abnormal lung morphology, Abnormality of the vertebral column, Congenital malformation of the gre... ORPHA:294975
17Q21.31 Microduplication Syndrome
Short philtrum, Toe syndactyly, Short nose, Epicanthus, Abnormality of the dentition, Synophrys, ... ORPHA:217340
Congenital Anomalies Of Kidney And Urinary Tract Syndrome With Or Without Hearing Loss, Abnormal Ears, Or Developmental Delay
Cryptorchidism, Respiratory insufficiency, Vesicoureteral reflux, Congenital diaphragmatic hernia... OMIM:617641
Congenital Arthrogryposis With Anterior Horn Cell Disease
Scoliosis, Hip dysplasia, Rocker bottom foot, Arthrogryposis multiplex congenita, Short neck, Kyp... OMIM:611890
Open bite, Hip dysplasia, Macroglossia, Narrow palate, Synostosis of joints, Craniofacial hyperos... ORPHA:61
Craniosynostosis-Hydrocephalus-Arnold-Chiari Malformation Type I-Radioulnar Synostosis Syndrome
Cryptorchidism, Thin vermilion border, Craniosynostosis, Large fontanelles, Wide intermamillary d... ORPHA:171839
Endosteal Hyperostosis, Autosomal Dominant
Metacarpal diaphyseal endosteal sclerosis, Metatarsal diaphyseal endosteal sclerosis, Torus palat... OMIM:144750
Chromosome 2Q35 Duplication Syndrome
Sagittal craniosynostosis, Distal symphalangism of hands OMIM:185900
Metatropic Dysplasia
Scoliosis, Arthrogryposis multiplex congenita, Dumbbell-shaped metaphyses, Respiratory insufficie... OMIM:156530
Gillessen-Kaesbach-Nishimura Syndrome
Underdeveloped nasal alae, Narrow greater sciatic notch, Micrognathia, Short neck, Convex nasal r... OMIM:263210
Limb-Mammary Syndrome
Sparse eyebrow, 3-4 finger cutaneous syndactyly, Lacrimal duct atresia, Aplasia of the ovary, Syn... ORPHA:69085
Dyssegmental Dysplasia With Glaucoma
Wide anterior fontanel, Proptosis, Cleft palate, Delayed epiphyseal ossification, Hip contracture... OMIM:601561
Intellectual Disability-Facial Dysmorphism-Hand Anomalies Syndrome
Short 3rd metacarpal, Short toe, Broad thumb, Moderate hearing impairment, Short 5th metacarpal, ... ORPHA:370010
Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion
Scoliosis, Cryptorchidism, Underdeveloped nasal alae, Chordee, Polydactyly, Recurrent urinary tra... ORPHA:268261
Stuve-Wiedemann Syndrome
Scoliosis, Pursed lips, Abnormal dental enamel morphology, Short phalanx of finger, Thin skin, Pa... OMIM:601559
Non-Distal Trisomy 10Q
Scoliosis, Convex nasal ridge, Cryptorchidism, Hypertelorism, Short nose, Blepharophimosis, Front... ORPHA:1695
Scalp-Ear-Nipple Syndrome
Small earlobe, Mandibular prognathia, Narrow palpebral fissure, 3-4 finger cutaneous syndactyly, ... OMIM:181270
Mucopolysaccharidosis, Type Ix
Periarticular soft-tissue mass, Chondrocalcinosis, Acetabular erosions, Popliteal synovial cyst, ... OMIM:601492
Orofacial Cleft 13
Cleft soft palate, Oligodontia OMIM:613857
Schneckenbecken Dysplasia
Anterior rib cupping, Lateral clavicle hook, Advanced tarsal ossification, Metaphyseal irregulari... OMIM:269250
Microphthalmia With Cyst, Bilateral Facial Clefts, And Limb Anomalies
Joint hypermobility, Broad proximal phalanges of the hand, Abnormal hair morphology, Frontal boss... OMIM:607597
Amelogenesis Imperfecta, Hypomaturation Type, Iia2
Amelogenesis imperfecta, Abnormal dental enamel morphology, Anterior open-bite malocclusion OMIM:612529
Salivary Duct Calculi
Abnormality of the mouth, Parotitis OMIM:181010
Amelogenesis Imperfecta, Hypomaturation Type, Iia6
Amelogenesis imperfecta, Anterior open-bite malocclusion, Enamel hypomineralization OMIM:617217
Testicular Anomalies With Or Without Congenital Heart Disease
Cryptorchidism, Ambiguous genitalia, Microphallus, Perineal hypospadias, Testicular dysgenesis, M... OMIM:615542
Aminopterin Syndrome Sine Aminopterin
Oligodontia, Hypertelorism, Frontal bossing, Micrognathia, High palate, Decreased body weight, Um... OMIM:600325
Cleft Soft Palate
Cleft soft palate OMIM:119570
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14
Scoliosis, Cryptorchidism, Absent glenoid fossa, Epiphyseal stippling, Wormian bones, Narrow mout... ORPHA:96334
Mandibuloacral Dysplasia Progeroid Syndrome
Sparse eyebrow, Bulbous nose, Underdeveloped nasal alae, Narrow mouth, Macrovesicular hepatic ste... OMIM:619127
Adenylosuccinate Lyase Deficiency
Long philtrum, Short nose, Flat occiput, Smooth philtrum, Thin upper lip vermilion, Brachycephaly... ORPHA:46
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome
Cervical hemivertebrae, Broad thumb, Unilateral ptosis, Thoracic kyphosis, Hypermobility of inter... ORPHA:508498
Craniosynostosis With Anomalies Of The Cranial Base And Digits
Craniosynostosis, Proximal placement of hallux, Preaxial foot polydactyly, Absent middle phalanx ... OMIM:218530
Craniotelencephalic Dysplasia
Craniosynostosis, Absent septum pellucidum, Arrhinencephaly, Cerebellar hypoplasia, Agenesis of c... OMIM:218670
Maxillonasal Dysplasia, Binder Type
Short nose, Short columella, Short distal phalanx of finger, Dental malocclusion, Large earlobe, ... OMIM:155050
Saethre-Chotzen Syndrome
Narrow palate, Lambdoidal craniosynostosis, Oxycephaly, Shallow orbits, Hallux valgus, Hypoplasia... OMIM:101400
Oculoauriculofrontonasal Syndrome
Scoliosis, Narrow mouth, Underdeveloped nasal alae, Ventricular septal defect, Conductive hearing... ORPHA:398156
Dyssegmental Dysplasia, Rolland-Desbuquois Type
Narrow chest, Micrognathia, Midface retrusion, Camptodactyly, Bowing of the long bones, Broad lon... OMIM:224400
Spondyloepimetaphyseal Dysplasia With Joint Laxity
Scoliosis, Joint laxity, Abnormality of the elbow, Increased susceptibility to fractures, Abnorma... ORPHA:93359
Hemifacial Hyperplasia
Dental malocclusion, Hypoplasia of the maxilla OMIM:133900
46,Xy Sex Reversal 10
Ambiguous genitalia, Gonadoblastoma, Sex reversal, Dysgerminoma, Decreased testicular size, Micro... OMIM:616425
Hypohidrotic Ectodermal Dysplasia
Irregular hyperpigmentation, Thin skin, Slow-growing hair, Xerostomia, Sinusitis, Hypoplasia of t... ORPHA:238468
Whistling Face Syndrome, Recessive Form
Narrow mouth, Underdeveloped nasal alae, Camptodactyly, High palate, Micrognathia, Elbow flexion ... OMIM:277720
Desbuquois Dysplasia 1
Scoliosis, Short metatarsal, Narrow mouth, Joint laxity, Narrow chest, Phalangeal dislocation, Br... OMIM:251450
Neu-Laxova Syndrome 1
Cryptorchidism, Bifid uterus, Short umbilical cord, Camptodactyly, Patent ductus arteriosus, Pate... OMIM:256520
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 1
Cryptorchidism, Carious teeth, Oligodontia, Dacryocystitis, Thin skin, Split hand, Hydroureter, C... OMIM:129900
Isolated Sedoheptulokinase Deficiency
Hip dysplasia, Abnormal renal tubule morphology, Arthrogryposis multiplex congenita, Large fontan... ORPHA:440713
Congenital Heart Defects And Skeletal Malformations Syndrome
Scoliosis, Cryptorchidism, Carious teeth, Dental crowding, Thin skin, Camptodactyly, Intestinal m... OMIM:617602
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia
Cryptorchidism, Thin vermilion border, Craniosynostosis, Broad thumb, Short metatarsal, Short pha... OMIM:609945
Weill-Marchesani Syndrome 1
Scoliosis, Broad skull, Tooth malposition, Narrow palate, Abnormality of dental morphology, Broad... OMIM:277600
Congenital Hemidysplasia With Ichthyosiform Erythroderma And Limb Defects
Scoliosis, Epiphyseal stippling, Congenital hip dislocation, Erythema, Short clavicles, Renal hyp... OMIM:308050
Trigonocephaly With Short Stature And Developmental Delay
Lambdoidal craniosynostosis, Hypotelorism, Small anterior fontanelle, Wide nasal bridge, Prematur... OMIM:314320
Renpenning Syndrome
Narrow mouth, Mandibular prognathia, Sensorineural hearing impairment, Joint stiffness, Skeletal ... ORPHA:3242
Chromosome 16Q22 Deletion Syndrome
Cryptorchidism, Wormian bones, Narrow chest, Sensorineural hearing impairment, High palate, Wide ... OMIM:614541
Symphalangism, Distal
Craniosynostosis, Distal foot symphalangism, Distal symphalangism of hands OMIM:185700
Alpha-Thalassemia/Mental Retardation Syndrome, X-Linked
Cryptorchidism, Hemivertebrae, Sensorineural hearing impairment, Micropenis, Widely-spaced maxill... OMIM:301040
Microcephaly 4, Primary, Autosomal Recessive
Micrognathia, Hypertelorism OMIM:604321
Distal Monosomy 10Q
Craniosynostosis, Short metatarsal, Acute kidney injury, Widow's peak, Sandal gap, Vesicoureteral... ORPHA:96148
Hypospadias-Intellectual Disability, Goldblatt Type Syndrome
Overfolded helix, Midface retrusion, Low-set, posteriorly rotated ears, Abnormal palate morpholog... ORPHA:2261
Crane-Heise Syndrome
Cryptorchidism, Toe syndactyly, Aplasia/Hypoplasia of the corpus callosum, Finger syndactyly, Low... ORPHA:1512
Kaufman Oculocerebrofacial Syndrome
Carious teeth, Congenital hip dislocation, Narrow mouth, Thin skin, Ovoid vertebral bodies, Intes... OMIM:244450
Ectodermal Dysplasia-Intellectual Disability-Central Nervous System Malformation Syndrome
Cryptorchidism, Abnormal dental enamel morphology, Thin skin, Sandal gap, Downslanted palpebral f... ORPHA:1812
Cortical Blindness, Retardation, And Postaxial Polydactyly
Microretrognathia, Long philtrum, Short nose, Frontal bossing OMIM:218010
Branchioskeletogenital Syndrome
Thin vermilion border, Craniosynostosis, Carious teeth, Downturned corners of mouth, Upper limb p... ORPHA:1299
Dextrocardia With Unusual Facies And Microphthalmia
Macrotia, Supernumerary ribs, Vertebral fusion, Cleft palate, Micrognathia, Vertebral segmentatio... OMIM:221950
Blepharophimosis-Impaired Intellectual Development Syndrome
Scoliosis, Cryptorchidism, Enamel hypoplasia, Sparse eyebrow, Joint laxity, Underdeveloped nasal ... OMIM:619293
Hyperphosphatasia With Mental Retardation Syndrome 1
Downturned corners of mouth, Mandibular prognathia, Short distal phalanx of finger, Cerebral cort... OMIM:239300
Craniosynostosis, Adelaide Type
Shortening of all distal phalanges of the fingers, Craniosynostosis, Cone-shaped epiphyses of the... OMIM:600593
Craniosynostosis 6
Craniosynostosis, Plagiocephaly, Abnormal corpus callosum morphology, Dandy-Walker malformation, ... OMIM:616602
Catel-Manzke Syndrome
Scoliosis, Camptodactyly of finger, Highly arched eyebrow, Hypertelorism, Abnormality of epiphysi... ORPHA:1388
Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked
Cryptorchidism, Craniosynostosis, Arthrogryposis multiplex congenita, Hirsutism, Abnormal left ve... OMIM:301056
Jacobsen Syndrome
Scoliosis, Cryptorchidism, Broad hallux phalanx, Intestinal malrotation, Death in infancy, Toe cl... ORPHA:2308
46,Xy Sex Reversal 8
Sex reversal, Cryptorchidism, Ambiguous genitalia, Male pseudohermaphroditism OMIM:614279
Helsmoortel-Van Der Aa Syndrome
Joint laxity, Narrow palpebral fissure, Eyelid coloboma, Downslanted palpebral fissures, Long phi... OMIM:615873
Fg Syndrome Type 1
Cryptorchidism, Craniosynostosis, Open mouth, Dental crowding, Abnormal sternum morphology, Choan... ORPHA:93932
Trigonobrachycephaly, Bulbous Bifid Nose, Micrognathia, And Abnormalities Of The Hands And Feet
Broad metatarsal, Trigonocephaly, Brachycephaly, Broad phalanx, Prominent metopic ridge OMIM:275595
Multiple Pterygium Syndrome, X-Linked
Multiple pterygia, Hypertelorism, Short finger, Flexion contracture, Epicanthus, Intrauterine gro... OMIM:312150
Kimura Disease
Abnormal salivary gland morphology ORPHA:482
Chromosome 16P11.2 Deletion Syndrome, 593-Kb
Midface retrusion, Micrognathia, Hypertelorism OMIM:611913
8Q22.1 Microdeletion Syndrome
Cryptorchidism, Abnormality of the antihelix, Craniosynostosis, Sandal gap, Wide intermamillary d... ORPHA:178303
Cortical Dysplasia, Complex, With Other Brain Malformations 7
Pachygyria, Hypoplasia of the corpus callosum, Cerebellar hypoplasia, Unilateral polymicrogyria, ... OMIM:610031
Autism Spectrum Disorder Due To Auts2 Deficiency
Scoliosis, Cryptorchidism, Arthrogryposis multiplex congenita, Narrow mouth, Micrognathia, Upslan... ORPHA:352490
Pmp22-Rai1 Contiguous Gene Duplication Syndrome
Joint laxity, Sandal gap, Double outlet right ventricle, Patent foramen ovale, Downslanted palpeb... ORPHA:477817
Acrofacial Dysostosis 1, Nager Type
Scoliosis, Atresia of the external auditory canal, Bicornuate uterus, Absent radius, Downslanted ... OMIM:154400
Hemifacial Atrophy, Progressive
Delayed eruption of teeth, Deeply set eye, Short mandibular rami, Dental malocclusion, Tongue atr... OMIM:141300
Isolated Klippel-Feil Syndrome
Scoliosis, Spina bifida, Abnormality of the vertebral column, Sprengel anomaly, Cervical C2/C3 ve... ORPHA:2345
Kniest Dysplasia
Delayed epiphyseal ossification, Abnormal cartilage collagen, Short neck, Depressed nasal bridge,... OMIM:156550
Tooth Agenesis, Selective, X-Linked, 1
Oligodontia, Agenesis of lateral incisor, Anodontia, Hypodontia, Tooth agenesis, Agenesis of prem... OMIM:313500
Brachydactyly, Type B1
Hypoplastic sacrum, Broad thumb, Wide anterior fontanel, Short middle phalanx of finger, Camptoda... OMIM:113000
Narrow mouth, Narrow chest, Abnormality of the ribs, Abnormality of the metaphysis, Downslanted p... ORPHA:2021
Retinal Dystrophy, Juvenile Cataracts, And Short Stature Syndrome
Dental malocclusion, Malar flattening, Widely spaced teeth OMIM:616108
Postaxial Acrofacial Dysostosis
Camptodactyly of finger, Hypoplasia of the radius, Finger syndactyly, Conductive hearing impairme... ORPHA:246
Imperforate Oropharynx-Costovertebral Anomalies Syndrome
Abnormality of the philtrum, Overfolded helix, Choanal atresia, Aplasia/Hypoplasia of the tongue,... ORPHA:2759
Odontochondrodysplasia 1
Scoliosis, Nephronophthisis, Joint hypermobility, Short phalanx of finger, Narrow chest, Flared i... OMIM:184260
Otodental Dysplasia
Long philtrum, Pulp calcification, Ankylosis, Taurodontia, Hypodontia OMIM:166750
Atelosteogenesis, Type Ii
Scoliosis, Hitchhiker thumb, Short greater sciatic notch, Death in infancy, Respiratory insuffici... OMIM:256050
Campomelic Dysplasia
Scoliosis, Poorly ossified cervical vertebrae, Narrow chest, Small abnormally formed scapulae, Sh... ORPHA:140
Spondylometaphyseal Dysplasia With Corneal Dystrophy
Squared iliac bones, Lumbar platyspondyly, Hypertelorism, Short nose, Narrow chest, Beaking of ve... OMIM:618961
Spondylometaphyseal Dysplasia, X-Linked
Platyspondyly, Enlarged joints, Anteverted nares, Kyphosis, Short finger, Respiratory insufficien... OMIM:313420
Mucolipidosis Ii Alpha/Beta
Flared iliac wing, Split hand, Carpal bone hypoplasia, Ovoid vertebral bodies, Beaking of vertebr... OMIM:252500
Intellectual Developmental Disorder, X-Linked, Syndromic, 35
Scoliosis, Cryptorchidism, Narrow mouth, Dental crowding, Camptodactyly, Mandibular prognathia, D... OMIM:300998
Acrocraniofacial Dysostosis
Craniosynostosis, Oxycephaly, Natal tooth, Metatarsus adductus, Sensorineural hearing impairment,... OMIM:201050
Melnick-Needles Syndrome
Scoliosis, Narrow chest, Respiratory insufficiency, Short distal phalanx of finger, Vesicouretera... ORPHA:2484
Eiken Syndrome
Cubitus valgus, Short toe, Abnormal bone ossification, Short phalanx of finger, Abnormal trabecul... ORPHA:79106
Facial Dysmorphism-Anorexia-Cachexia-Eye And Skin Anomalies Syndrome
Midline defect of the nose, Anteverted nares, Short hard palate ORPHA:1969
Hypospadias, hypertelorism, upper LID coloboma, and mixed-type hearingloss
Hypertelorism, Midface retrusion, Everted lower lip vermilion, Mandibular prognathia, Thick vermi... OMIM:603463
Congenital Unilateral Hypoplasia Of Depressor Anguli Oris
Cryptorchidism, Multiple renal cysts, Ventricular septal defect, Micrognathia, Abnormal aortic mo... ORPHA:1166
Lenz-Majewski Hyperostotic Dwarfism
Cryptorchidism, Large fontanelles, Chordee, Thin skin, Cutis laxa, Choanal atresia, Sensorineural... OMIM:151050
Amelogenesis Imperfecta, Type Ie
Enamel hypoplasia, Amelogenesis imperfecta, Anterior open-bite malocclusion, Microdontia OMIM:301200
Mental Retardation, Buenos Aires Type
Carious teeth, Mandibular prognathia, Curly eyelashes, Downslanted palpebral fissures, High palat... OMIM:249630
Dubowitz Syndrome
Scoliosis, Cryptorchidism, Abnormality of the antihelix, Craniosynostosis, Broad thumb, Abnormali... ORPHA:235
Corpus Callosum, Agenesis Of
Frontal bossing, Camptodactyly, Joint contracture of the hand, Microcephaly, Agenesis of corpus c... OMIM:217990
Focal Dermal Hypoplasia
Scoliosis, Open bite, Abnormal dental enamel morphology, Abnormality of skin pigmentation, Thin s... ORPHA:2092
Premature closure of fontanelles, Abnormality of the mouth, Hypertelorism, Short nose, Genu recur... ORPHA:221054
Phenobarbital Embryopathy
Aplasia/Hypoplasia of fingers, Abnormal mitral valve morphology, Mandibular prognathia, Epicanthu... ORPHA:1919
Glass Syndrome
Oligodontia, Narrow mouth, Bulbous nose, Dental crowding, Thin skin, Camptodactyly, Downslanted p... OMIM:612313
Tetralogy Of Fallot
Cryptorchidism, Thin vermilion border, Proptosis, Intrauterine growth retardation, Dolichocephaly... ORPHA:3303
Craniosynostosis 3
Craniosynostosis, Brachydactyly, Hallux valgus OMIM:615314
Van Der Woude Syndrome 1
Hypodontia, Cleft upper lip, Cleft palate, Bifid uvula, Lower lip pit OMIM:119300
Acrocraniofacial Dysostosis
Craniosynostosis, Broad thumb, Flared iliac wing, Choanal atresia, Short distal phalanx of finger... ORPHA:949
Mental Retardation, X-Linked 91
Cubitus valgus, Short nose, Epicanthus, Clinodactyly, Small hand, Short foot, High palate, Short ... OMIM:300577
Renal Hypodysplasia/Aplasia 2
Pulmonary hypoplasia OMIM:615721
Neurodevelopmental Disorder With Structural Brain Anomalies And Dysmorphic Facies
Scoliosis, Long philtrum, Cryptorchidism, Hypertelorism, Short nose, Unilambdoid synostosis, Midf... OMIM:618577
Prolidase Deficiency
Carious teeth, Thin skin, Hirsutism, Erythema, Micrognathia, Depressed nasal bridge, Genu valgum,... ORPHA:742
Autosomal Dominant Myopia-Midfacial Retrusion-Sensorineural Hearing Loss-Rhizomelic Dysplasia Syndrome
Short femur, Frontal bossing, Narrow chest, Midface retrusion, Rhizomelia, Hypoplastic scapulae, ... ORPHA:440354
Cenani-Lenz Syndrome
Scoliosis, Abnormal dental enamel morphology, Crossed fused renal ectopia, Elbow dislocation, Abn... ORPHA:3258
Large fontanelles, Respiratory insufficiency, Missing ribs, Unossified sacrum, Micrognathia, Shor... OMIM:608022
Otopalatodigital Syndrome Type 2
Scoliosis, Oligodontia, Tarsal synostosis, Narrow mouth, Large fontanelles, Elbow dislocation, Fl... ORPHA:90652
Oculocerebrocutaneous Syndrome
Cryptorchidism, Focal dermal aplasia/hypoplasia, Congenital hip dislocation, Hypoplasia of the co... OMIM:164180
Mental Retardation, Autosomal Dominant 57
Scoliosis, Joint hypermobility, Craniosynostosis, Narrow mouth, Blepharophimosis, Kyphosis, Upsla... OMIM:618050
Adducted Thumbs Syndrome
Craniosynostosis, Arthrogryposis multiplex congenita, Cleft palate, High palate, High, narrow pal... OMIM:201550
Achard Syndrome
Broad skull, Joint laxity, Brachycephaly, Micrognathia, Arachnodactyly OMIM:100700
Microcephaly 5, Primary, Autosomal Recessive
Hypoplasia of the corpus callosum, Ventriculomegaly, Cerebellar hypoplasia, Small cerebral cortex... OMIM:608716
Gorlin Syndrome
Scoliosis, Cryptorchidism, Carious teeth, Hypertelorism, Frontal bossing, Mandibular prognathia, ... ORPHA:377
Wiedemann-Rautenstrauch Syndrome
Cryptorchidism, Joint hypermobility, Narrow mouth, Downturned corners of mouth, Thin skin, Dilata... ORPHA:3455
Cleft Velum
Cleft soft palate, Aspiration pneumonia, Velopharyngeal insufficiency ORPHA:99772
Amelogenesis Imperfecta, Type Ia
Amelogenesis imperfecta, Generalized microdontia, Taurodontia OMIM:104530
Raine Syndrome
Enamel hypoplasia, Arthrogryposis multiplex congenita, Narrow mouth, Choanal stenosis, Hydrourete... OMIM:259775
Dandy-Walker Syndrome
Posterior fossa cyst at the fourth ventricle, Partial absence of cerebellar vermis, Dilated fourt... OMIM:220200
Hyper-Ige Recurrent Infection Syndrome 1, Autosomal Dominant
Joint hypermobility, Craniosynostosis, Hypertelorism, Frontal bossing, Recurrent fractures, Persi... OMIM:147060
Weill-Marchesani Syndrome 2
Scoliosis, Narrow palate, Short metatarsal, Joint stiffness, Thin bony cortex, High palate, Broad... OMIM:608328
Premature Aging Syndrome, Penttinen Type
Scoliosis, Delayed eruption of teeth, Thin vermilion border, Wormian bones, Thin calvarium, Hypop... OMIM:601812
Rapp-Hodgkin Syndrome
Narrow mouth, Underdeveloped nasal alae, Thin skin, Progressive alopecia, Depressed nasal bridge,... OMIM:129400
Autosomal Recessive Robinow Syndrome
Scoliosis, Cryptorchidism, Open bite, Broad thumb, Downturned corners of mouth, Elbow dislocation... ORPHA:1507
Robinow-Sorauf Syndrome
Hypertelorism, Duplication of phalanx of hallux, Broad hallux, Plagiocephaly, Shallow orbits, Lon... OMIM:180750
Perching Syndrome
Respiratory distress, Camptodactyly, Flexion contracture, High palate, Depressed nasal bridge OMIM:617055
Auriculocondylar Syndrome 1
Narrow mouth, Ankylosis, Dental crowding, Overfolding of the superior helices, Mandibular condyle... OMIM:602483
Wormian bones, Narrow palate, Narrow chest, Persistent open anterior fontanelle, Bone pain, Short... ORPHA:763
Cleft Palate-Short Stature-Vertebral Anomalies Syndrome
Short nose, Abnormal vertebral morphology, Micrognathia, Low-set, posteriorly rotated ears, Epica... ORPHA:2015
Mandibulofacial Dysostosis With Alopecia
Dental crowding, Hydroureter, Stenosis of the external auditory canal, Micrognathia, Hypoplasia o... OMIM:616367
Mucolipidosis Type Ii
Limited wrist movement, Abnormality of long bone morphology, Craniosynostosis, Narrow chest, Resp... ORPHA:576
Short Stature-Deafness-Neutrophil Dysfunction-Dysmorphism Syndrome
Craniosynostosis ORPHA:2866
Congenital Heart Defects And Ectodermal Dysplasia
Scoliosis, Broad thumb, Thin skin, Premature loss of primary teeth, Sparse scalp hair, Dry skin, ... OMIM:617364
Cleft Palate-Large Ears-Small Head Syndrome
Macrotia, Pectus excavatum, Short distal phalanx of finger, Aplasia/Hypoplasia of the nipples, Pt... ORPHA:2013
Wolf-Hirschhorn Syndrome
Scoliosis, Cryptorchidism, Abnormality of the philtrum, Downturned corners of mouth, Calvarial sk... ORPHA:280
Congenital Disorder Of Glycosylation, Type Iig
Scoliosis, Cryptorchidism, Camptodactyly, Downslanted palpebral fissures, High palate, Wide inter... OMIM:611209
Multiple Pterygium Syndrome, Lethal Type
Multiple pterygia, Hypertelorism, Short finger, Flexion contracture, Epicanthus, Vertebral fusion... OMIM:253290
Pyle Disease
Scoliosis, Platyspondyly, Delayed eruption of teeth, Carious teeth, Limited elbow extension, Genu... OMIM:265900
Spondyloepimetaphyseal Dysplasia, Strudwick Type
Scoliosis, Genu valgum, Delayed pubic bone ossification, Club-shaped proximal femur, Hyperlordosi... OMIM:184250
Robinow Syndrome, Autosomal Dominant 3
Scoliosis, Cryptorchidism, Broad thumb, Short phalanx of finger, Hypoplastic right heart, Downtur... OMIM:616894
Ophthalmoplegia, Progressive, With Scrotal Tongue And Mental Deficiency
Furrowed tongue OMIM:165150
Simpson-Golabi-Behmel Syndrome, Type 2
Congenital hip dislocation, Pneumonia, High palate, Short neck, Micropenis, Scaphocephaly, Wide n... OMIM:300209
Shashi-Pena Syndrome
Scoliosis, Accelerated skeletal maturation, Osteoporosis, Highly arched eyebrow, Hypertelorism, K... OMIM:617190
Hennekam Lymphangiectasia-Lymphedema Syndrome 1
Scoliosis, Cryptorchidism, Oligodontia, Narrow palate, Narrow mouth, Camptodactyly, Hirsutism, Se... OMIM:235510
Microcephalic Osteodysplastic Dysplasia, Saul-Wilson Type
Convex nasal ridge, Platyspondyly, Irregularity of vertebral bodies, Cone-shaped epiphyses of the... ORPHA:85172
Treacher Collins Syndrome 4
Conductive hearing impairment, Lower eyelid coloboma, Cleft palate, Downslanted palpebral fissure... OMIM:618939
Arthrogryposis, Distal, Type 1C
Pursed lips, Scoliosis, Thin vermilion border, Narrow mouth, Wrist flexion contracture, Metacarpo... OMIM:619110
Dysostosis, Stanescu Type
Scoliosis, Wormian bones, Carious teeth, Abnormal dental enamel morphology, Massively thickened l... ORPHA:1798
Otospondylomegaepiphyseal Dysplasia
Abnormality of long bone morphology, Short phalanx of finger, Sandal gap, Sensorineural hearing i... ORPHA:1427
Dentinogenesis Imperfecta, Shields Type Iii
Dental enamel pits, Odontodysplasia, Periapical bone loss, Anterior open-bite malocclusion, Denti... OMIM:125500
Contractures, Pterygia, And Spondylocarpotarsal Fusion Syndrome 1A
Scoliosis, Craniosynostosis, Arthrogryposis multiplex congenita, Tarsal synostosis, Camptodactyly... OMIM:178110
Richieri-Costa/Guion-Almeida Syndrome
Palmoplantar cutis laxa, Pectus excavatum, Mandibular prognathia, Abnormal digit morphology, Clef... OMIM:268850
Peroxisome Biogenesis Disorder 10A (Zellweger)
Epiphyseal stippling, High palate, Micrognathia, Hypertelorism OMIM:614882
Lamb-Shaffer Syndrome
Scoliosis, Hip dysplasia, Thoracic kyphosis, Epicanthus, Thick vermilion border, Broad nasal tip,... ORPHA:530983
Vertebral, Cardiac, Tracheoesophageal, Renal, And Limb Defects
Choanal atresia, Hypertrichosis, Spina bifida occulta, Low posterior hairline, Wide nose, Webbed ... OMIM:619227
Dyggve-Melchior-Clausen Disease
Scoliosis, Short metatarsal, Shield chest, Carpal bone hypoplasia, Camptodactyly, Thoracic kyphos... OMIM:223800
Clark-Baraitser syndrome
Genu valgum, Joint laxity, Frontal bossing, Genu recurvatum, Short palm, Maxillary lateral inciso... OMIM:300602
Frontometaphyseal Dysplasia
Scoliosis, Limited wrist movement, Oligodontia, Craniosynostosis, Short metatarsal, Short phalanx... ORPHA:1826
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 3
Anomalous origin of left coronary artery from the pulmonary artery, Bilateral renal agenesis, Uni... OMIM:618845
Nager Syndrome
Atresia of the external auditory canal, Joint stiffness, Phocomelia, Downslanted palpebral fissur... ORPHA:245
Infantile Osteopetrosis With Neuroaxonal Dysplasia
Increased skull ossification, Hypoplastic hippocampus, Ventriculomegaly, Cerebral atrophy, Agenes... ORPHA:85179
Melnick-Needles Syndrome
Narrow chest, Coarse hair, Short distal phalanx of finger, Short clavicles, Cone-shaped epiphyses... OMIM:309350
Treacher-Collins Syndrome
Open bite, Cryptorchidism, Abnormal dental enamel morphology, Narrow mouth, Narrow internal audit... ORPHA:861
Lethal Congenital Contracture Syndrome 10
Overlapping fingers, Long philtrum, Talipes equinovarus, Short neck, Narrow palate, Ventricular s... OMIM:617022
Toriello-Lacassie-Droste Syndrome
Abnormality of the bladder, Abnormality of the ear, Eyelid coloboma, Generalized hyperpigmentatio... ORPHA:3339
Mental Retardation, Skeletal Dysplasia, And Abducens Palsy
Scoliosis, Short middle phalanx of finger, Thoracic hemivertebrae, Wide nasal bridge, Anal atresi... OMIM:309620
Holoprosencephaly 9
Cryptorchidism, Short philtrum, Panhypopituitarism, Agenesis of incisor, Anterior pituitary agene... OMIM:610829
Williams Syndrome
Abnormal endocardium morphology, Patent ductus arteriosus, Hypercalciuria, Cerebral cortical atro... ORPHA:904
Spondylomegaepiphyseal Dysplasia With Upper Limb Mesomelia, Punctate Calcifications, And Deafness
Scoliosis, Flat acetabular roof, Sensorineural hearing impairment, Narrow greater sciatic notch, ... OMIM:609616
Grant Syndrome
Open bite, Wormian bones, Abnormality of the glenoid fossa, Large fontanelles, Frontal bossing, J... ORPHA:2097
Scoliosis, Delayed eruption of teeth, Platyspondyly, Short nose, Frontal bossing, Square pelvis b... ORPHA:166272
Intellectual Disability, Buenos-Aires Type
Open bite, Biparietal narrowing, Hypertelorism, Abnormality of dental morphology, Mandibular prog... ORPHA:3079
Genitopalatocardiac Syndrome
Ventricular septal defect, Micrognathia, Low-set ears, Gonadal dysgenesis, male, Double outlet ri... OMIM:231060
Three M Syndrome 2
Prominent calcaneus, Long philtrum, Delayed eruption of teeth, Short 5th finger, Frontal bossing,... OMIM:612921
Pierpont Syndrome
Scoliosis, Cryptorchidism, Thin vermilion border, Unilateral narrow palpebral fissure, Narrow pal... OMIM:602342
Axial Spondylometaphyseal Dysplasia
Proximal femoral metaphyseal irregularity, Hypertelorism, Short nose, Frontal bossing, Downslante... ORPHA:168549
Craniometadiaphyseal Dysplasia, Wormian Bone Type
Wormian bones, Overtubulated long bones, Wide anterior fontanel, Broad ribs, Thin calvarium, Micr... ORPHA:85184
Erythrokeratodermia Variabilis Et Progressiva 5
Hyperkeratosis, Joint stiffness, Palmoplantar hyperkeratosis OMIM:617756
Osteogenesis Imperfecta, Type Xii
Osteoporosis, Delayed eruption of teeth, Wormian bones, Narrow mouth, Midface retrusion, Generali... OMIM:613849
Fibrodysplasia Ossificans Progressiva
Scoliosis, Small cervical vertebral bodies, Short hallux, Conductive hearing impairment, Ectopic ... OMIM:135100
Ataxia, Intention Tremor, And Hypotonia Syndrome, Childhood-Onset
Ankyloglossia OMIM:619352
Intellectual Developmental Disorder, Autosomal Dominant 44, With Microcephaly
Short nose, Dental crowding, Macrotia, Kyphosis, Upslanted palpebral fissure, 2-3 toe syndactyly,... OMIM:617061
Nestor-Guillermo Progeria Syndrome
Scoliosis, Convex nasal ridge, Delayed closure of the anterior fontanelle, Osteoporosis, Osteolyt... OMIM:614008
Hereditary Acrokeratotic Poikiloderma
Open bite, Irregular hyperpigmentation, Narrow mouth, Thin skin, Abnormality of the metacarpal bo... ORPHA:2907
Developmental Malformations-Deafness-Dystonia Syndrome
Scoliosis, Macroglossia, Dysphagia, Hypoplastic scapulae, Kyphosis, Achalasia, Oral cleft, Sensor... ORPHA:79107
15Q24 Microdeletion Syndrome
Scoliosis, Cryptorchidism, Joint laxity, Narrow mouth, Broad eyebrow, Congenital diaphragmatic he... ORPHA:94065
Lissencephaly 4
Cerebellar hypoplasia, Simplified gyral pattern, Microcephaly, Agenesis of corpus callosum, Lisse... OMIM:614019
14Q11.2 Microdeletion Syndrome
Long philtrum, Highly arched eyebrow, Hypertelorism, Narrow mouth, Short nose, Blepharophimosis, ... ORPHA:261120
Mosaic Trisomy 1
Hepatic agenesis, Oral cleft, Long toe, Congenital diaphragmatic hernia, Downslanted palpebral fi... ORPHA:1692
Trigonocephaly 1
Craniosynostosis, Trigonocephaly, Hypotelorism OMIM:190440
Megalencephaly-Severe Kyphoscoliosis-Overgrowth Syndrome
Sparse eyebrow, Joint laxity, Mandibular prognathia, Broad eyebrow, Downslanted palpebral fissure... ORPHA:457359
Mulibrey Nanism
Enamel hypoplasia, Hypertelorism, Frontal bossing, Dental crowding, Hypoplastic frontal sinuses, ... OMIM:253250
Robinow Syndrome, Autosomal Dominant 1
Long philtrum, Macroglossia, Delayed eruption of teeth, Narrow palate, Cryptorchidism, Downturned... OMIM:180700
Trisomy 20P
Scoliosis, Cryptorchidism, Thin vermilion border, Abnormality of the antihelix, Downturned corner... ORPHA:261318
Antley-Bixler Syndrome
Craniosynostosis, Narrow mouth, Narrow chest, Choanal atresia, Joint stiffness, Abnormality of th... ORPHA:83
Hunter-Mcalpine Craniosynostosis Syndrome
Craniosynostosis OMIM:601379
Symphalangism With Multiple Anomalies Of Hands And Feet
Abnormality of the distal phalanges of the toes, Small hypothenar eminence, Small thenar eminence... ORPHA:3246
Cole-Carpenter Syndrome 2
Wormian bones, Hypertelorism, Lambdoidal craniosynostosis, Frontal bossing, Microretrognathia, Mi... OMIM:616294
Robinow Syndrome, Autosomal Recessive 2
Broad thumb, Camptodactyly, Triangular mouth, Micrognathia, Long philtrum, Clinodactyly, Broad na... OMIM:618529
Spondyloepimetaphyseal Dysplasia With Abnormal Dentition
Genu valgum, Oligodontia, Metaphyseal irregularity, Joint contracture of the 5th finger, Narrow i... OMIM:601668
Crouzon Syndrome-Acanthosis Nigricans Syndrome
Convex nasal ridge, Hypertelorism, Frontal bossing, Abnormal form of the vertebral bodies, Hypopl... ORPHA:93262
Spondylodysplastic Ehlers-Danlos Syndrome
Scoliosis, Cryptorchidism, Joint hypermobility, Narrow mouth, Thin skin, Optic disc coloboma, Sle... ORPHA:536471
Cole-Carpenter Syndrome 1
Scoliosis, Orbital craniosynostosis, Shallow orbits, Frontal bossing, Midface retrusion, Recurren... OMIM:112240
3C Syndrome
Scoliosis, Intestinal malrotation, Death in infancy, Hemivertebrae, Oral cleft, Downslanted palpe... ORPHA:7
Decreased numbers of nephrons, Branchial cyst, Secundum atrial septal defect, Unilateral renal ag... ORPHA:2260
Fetal Trimethadione Syndrome
Scoliosis, Ambiguous genitalia, Atrial septal defect, Short nose, Ventricular septal defect, Over... ORPHA:1913
Verheij Syndrome
Scoliosis, Long philtrum, Short nose, Renal hypoplasia, Wide nasal bridge, Thin upper lip vermili... OMIM:615583
Frank-Ter Haar Syndrome
Scoliosis, Mandibular prognathia, Abnormality of the metacarpal bones, Joint stiffness, Downslant... ORPHA:137834
Deafness-Craniofacial Syndrome
Short philtrum, Underdeveloped nasal alae, Abnormal palate morphology, Abnormality of the dentiti... ORPHA:3241
Asymmetric Short Stature Syndrome
Convex nasal ridge, Frontal bossing, Dental crowding, Lumbar scoliosis, Hemihypotrophy of lower l... OMIM:108450
Cleft Palate-Lateral Synechia Syndrome
Cleft palate, Everted lower lip vermilion, Narrow mouth, Oral synechia ORPHA:2016
Cerebrocostomandibular Syndrome
Glossoptosis, Short hard palate, Tracheomalacia, Cleft palate ORPHA:1393
Ulnar Hemimelia
Scoliosis, Radial club hand, Short forearm, Spinal dysraphism, Elbow pain, Limited shoulder movem... ORPHA:93320
Thymic Aplasia With Fetal Death
Pulmonary hypoplasia, Stillbirth OMIM:274210
Orofaciodigital Syndrome Type 4
Split hand, Choanal atresia, Aplasia/Hypoplasia of the tibia, Oral cleft, Rectovaginal fistula, C... ORPHA:2753
Lateral Meningocele Syndrome
Scoliosis, Cryptorchidism, Joint hypermobility, Wormian bones, Dental crowding, Downslanted palpe... OMIM:130720
Cleft Lip With Or Without Cleft Palate
Non-midline cleft palate, Submucous cleft of soft and hard palate, Non-midline cleft lip, Chronic... ORPHA:1991
Tooth Agenesis, Selective, 7
Agenesis of permanent teeth, Taurodontia OMIM:616724
Cutis Laxa, Autosomal Recessive, Type Iiib
Cryptorchidism, Thin vermilion border, Sparse hair, Blepharophimosis, Large fontanelles, Thin ski... OMIM:614438
Craniofacial Dysostosis With Diaphyseal Hyperplasia
Massively thickened long bone cortices, Thin calvarium, Limb undergrowth, Proptosis, Brachycephal... OMIM:122900
Carpenter Syndrome 1
Scoliosis, Cryptorchidism, Lambdoidal craniosynostosis, Flared iliac wing, Hydroureter, Camptodac... OMIM:201000
Charge Syndrome
Scoliosis, Cryptorchidism, Abnormality of tibia morphology, Narrow mouth, Overfolded helix, Choan... ORPHA:138
Chime Syndrome
Cerebral cortical atrophy, Transposition of the great arteries, Aplastic clavicle, Acute leukemia... ORPHA:3474
Omphalocele-Cleft Palate Syndrome, Lethal
Bifid uvula, Cleft palate OMIM:258320
Bifid Nose With Or Without Anorectal And Renal Anomalies
Short philtrum, Bulbous nose, Short lingual frenulum, Rectovaginal fistula, Bifid nose, Anteriorl... OMIM:608980
Myopathy, Areflexia, Respiratory Distress, And Dysphagia, Early-Onset
Scoliosis, Camptodactyly of finger, Restrictive ventilatory defect, Respiratory distress, Respira... OMIM:614399
Codas Syndrome
Enamel hypoplasia, Genu valgum, Squared iliac bones, Broad skull, Delayed eruption of teeth, Shor... OMIM:600373
Orofaciodigital Syndrome I
Enamel hypoplasia, Carious teeth, Underdeveloped nasal alae, Tongue nodules, Polydactyly, Lobulat... OMIM:311200
Spondylocostal Dysostosis 1, Autosomal Recessive
Death in infancy, Back pain, Rib fusion, Hemivertebrae, Vertebral fusion, Abnormality of the odon... OMIM:277300
Bartsocas-Papas Syndrome
Narrow mouth, Underdeveloped nasal alae, Ankyloblepharon, Alopecia totalis, Aplasia/Hypoplasia of... ORPHA:1234
1Q21.1 Microduplication Syndrome
Hip dysplasia, Cryptorchidism, Talipes equinovarus, Arthrogryposis multiplex congenita, Gastroeso... ORPHA:250994
Thanatophoric Dysplasia
Abnormal ilium morphology, Narrow chest, Respiratory insufficiency, Joint stiffness, Abnormality ... ORPHA:2655
Jacobsen Syndrome
Cryptorchidism, Clitoral hypoplasia, Trigonocephaly, Eyelid coloboma, Labial hypoplasia, Short ne... OMIM:147791
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome
Severe B lymphocytopenia, Cryptorchidism, Narrow mouth, Underdeveloped nasal alae, Coarse hair, P... ORPHA:83617
Aortic Arch Anomaly-Facial Dysmorphism-Intellectual Disability Syndrome
Carious teeth, Narrow mouth, Downturned corners of mouth, Macrotia, Abnormal aortic arch morpholo... ORPHA:1110
Cleft Palate, Deafness, And Oligodontia
Cleft soft palate, Oligodontia of primary teeth, No permanent dentition OMIM:216300
Intellectual Developmental Disorder, X-Linked, Syndromic, Cabezas Type
Cryptorchidism, Joint laxity, Bulbous nose, Mandibular prognathia, Gynecomastia, Sandal gap, Dist... OMIM:300354
Peroxisome Biogenesis Disorder 8A (Zellweger)
Hepatomegaly, Jaundice, Glossoptosis OMIM:614876
Atkin-Flaitz Syndrome
Genu valgum, Joint laxity, Frontal bossing, Genu recurvatum, Short palm, Maxillary lateral inciso... OMIM:300431
Atelosteogenesis Type I
Scoliosis, Narrow chest, Abnormality of fibula morphology, Micrognathia, Multiple renal cysts, Sh... ORPHA:1190
Scarf Syndrome
Enamel hypoplasia, Cryptorchidism, Craniosynostosis, Cutis laxa, Downslanted palpebral fissures, ... ORPHA:3134
Spastic Paraplegia 45, Autosomal Recessive
Hypoplasia of the corpus callosum, Flexion contracture, Dysplastic corpus callosum OMIM:613162
Arterial Tortuosity Syndrome
Scoliosis, Craniosynostosis, Abnormal carotid artery morphology, Thin skin, Cardiac arrest, Pulmo... ORPHA:3342
Nablus Mask-Like Facial Syndrome
Cryptorchidism, Craniosynostosis, Narrow mouth, Camptodactyly, High palate, Labial hypoplasia, Sh... OMIM:608156
Oculodentodigital Dysplasia, Autosomal Recessive
Thin vermilion border, Abnormal dental enamel morphology, Hypoplasia of teeth, Narrow mouth, Dent... OMIM:257850
Koolen-De Vries Syndrome
Scoliosis, Cryptorchidism, Abnormal dental enamel morphology, Narrow palate, Bulbous nose, Underd... ORPHA:96169
Pierpont Syndrome
Deep palmar crease, Thin vermilion border, Hypertelorism, Joint laxity, Broad philtrum, Short fin... ORPHA:487825
Radioulnar Synostosis-Microcephaly-Scoliosis Syndrome
Radioulnar synostosis, Abnormality of the philtrum, Finger syndactyly, Abnormality of the elbow, ... ORPHA:3268
Desbuquois Dysplasia 2
Broad thumb, Joint laxity, Short phalanx of finger, Dental crowding, Narrow chest, Flat acetabula... OMIM:615777
Satb2-Associated Syndrome Due To A Chromosomal Rearrangement
Broad thumb, Narrow mouth, Dental crowding, Postnatal growth retardation, Increased susceptibilit... ORPHA:251028
Symphalangism With Multiple Anomalies Of Hands And Feet
Small thenar eminence, Small hypothenar eminence, Reduced proximal interphalangeal joint space, T... OMIM:185750
Acrofacial Dysostosis Syndrome Of Rodriguez
Oligodactyly, Talipes equinovarus, Short philtrum, Narrow mouth, Overlapping toe, Wide anterior f... OMIM:201170
Chromosome 5P13 Duplication Syndrome
Short philtrum, Craniosynostosis, Hypertelorism, Frontal bossing, Large hands, Proptosis, Wide na... OMIM:613174
Familial Scaphocephaly Syndrome, Mcgillivray Type
Open bite, Hypertelorism, Midface retrusion, Mandibular prognathia, Trigonocephaly, High palate, ... ORPHA:168624
Bnar Syndrome