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Gene: Fgfr2 MGI:95523

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Not currently registered for phenotyping at IMPC

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

Gene Summary

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

Order Alleles

IMPC Data Collections

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

IMPC Phenotype Summary

Significant
Not Significant
Not tested

View all our phenotype data below

Phenotypes

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
phenotypes		 Matching phenotypes Source
Apert Syndrome
Mandibular prognathia, Limited elbow movement, Delayed epiphyseal ossification, Pectus carinatum,... OMIM:101200
Pfeiffer Syndrome
Mandibular prognathia, Syndactyly, Finger syndactyly, Shortening of all middle phalanges of the f... OMIM:101600
Lacrimoauriculodentodigital Syndrome
Micrognathia, Xerostomia, Orofacial cleft, Microdontia, Vesicoureteral reflux, Abnormal salivary ... ORPHA:2363
Crouzon Syndrome
Mandibular prognathia, Abnormality of the cervical spine, Dental crowding, Sagittal craniosynosto... OMIM:123500
Apert Syndrome
Mandibular prognathia, Aplasia/Hypoplasia of the thumb, Micromelia, Hypoplasia of the maxilla, Ve... ORPHA:87
Bent Bone Dysplasia Syndrome 1
Natal tooth, Bent long bone, Micrognathia, Hypoplastic pubic bone, Gingival overgrowth, Hirsutism... OMIM:614592
Jackson-Weiss Syndrome
Broad hallux, Calcaneonavicular fusion, Craniosynostosis, Hallux varus, Broad first metatarsal, 2... OMIM:123150
Lacrimoauriculodentodigital Syndrome 1
Absence of Stensen duct, Preaxial polydactyly, Xerostomia, Radial deviation of the 3rd finger, Co... OMIM:149730
Familial Scaphocephaly Syndrome, Mcgillivray Type
Mandibular prognathia, Hypertelorism, Open bite, High palate, Dolichocephaly, Trigonocephaly, Mid... ORPHA:168624
Saethre-Chotzen Syndrome
Long nose, Hypoplasia of the maxilla, Partial duplication of the distal phalanx of the 3rd finger... OMIM:101400
Crouzon Syndrome
Frontal bossing, Turricephaly, Hypertelorism, Hypoplasia of the maxilla, Brachycephaly, Narrow pa... ORPHA:207
Saethre-Chotzen Syndrome
Hypoplasia of the maxilla, Low anterior hairline, Brachycephaly, Abnormal form of the vertebral b... ORPHA:794
Jackson-Weiss Syndrome
Mandibular prognathia, Frontal bossing, Turricephaly, Hypertelorism, Hypoplasia of the maxilla, P... ORPHA:1540
Pfeiffer Syndrome Type 1
Broad hallux phalanx, Aplasia/Hypoplasia of the thumb, Finger syndactyly, Toe syndactyly, Midface... ORPHA:93258
Scaphocephaly, Maxillary Retrusion, And Impaired Intellectual Development
Dolichocephaly OMIM:609579
Cutis Gyrata-Acanthosis Nigricans-Craniosynostosis Syndrome
Bifid scrotum, Subcutaneous nodule, Anteriorly placed anus, Thickened helices, Cloverleaf skull, ... ORPHA:1555
Beare-Stevenson Cutis Gyrata Syndrome
Skin tags, Bifid scrotum, Redundant neck skin, Flat occiput, Anteriorly placed anus, High palate,... OMIM:123790
Fgfr2-Related Bent Bone Dysplasia
Osteopenia, Natal tooth, Micrognathia, Hypertelorism, Gingival overgrowth, Metopic depression, De... ORPHA:313855
Antley-Bixler Syndrome Without Genital Anomalies Or Disordered Steroidogenesis
Depressed nasal bridge, Choanal atresia, Arachnodactyly, Rocker bottom foot, Abnormal pinna morph... OMIM:207410
Pfeiffer Syndrome Type 2
Respiratory distress, Deviation of the thumb, High palate, Finger syndactyly, Broad hallux phalan... ORPHA:93259
Pfeiffer Syndrome Type 3
Respiratory distress, High palate, Vesicoureteral reflux, Finger syndactyly, Broad hallux phalanx... ORPHA:93260
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
phenotypes		 Matching phenotypes Source
Salivary Gland Adenoma, Pleomorphic
Salivary gland neoplasm OMIM:181030
Orofacial Cleft 11
Cleft lip, Cleft palate OMIM:600625
Syngnathia
Cleft palate OMIM:119550
Kleeblattschaedel
Cloverleaf skull, Elbow ankylosis, Proptosis, Craniosynostosis OMIM:148800
Cleft Palate With Or Without Ankyloglossia, X-Linked
Ankyloglossia, Bifid uvula, Cleft palate OMIM:303400
Hydrocephalus, Autosomal Dominant
Cerebellar vermis hypoplasia, Hydrocephalus, Dandy-Walker malformation, Sagittal craniosynostosis OMIM:123155
Cherubism
Broad jaw, Abnormal dental morphology, Abnormality of the dentition, Bone cyst, Abnormal mandible... ORPHA:184
Pulmonary Hypoplasia, Primary
Neonatal death, Pulmonary hypoplasia OMIM:265430
Osteosclerosis-Developmental Delay-Craniosynostosis Syndrome
Broad jaw, Increased bone mineral density, Craniosynostosis, Hypertelorism, Brachycephaly, Thicke... ORPHA:178377
Pierre Robin Syndrome
Glossoptosis, Pierre-Robin sequence, Cleft palate OMIM:261800
Parotid Salivary Glands, Polycystic Dysgenetic Disease Of
Enlargement of parotid gland OMIM:600343
Craniosynostosis-Dandy-Walker Malformation-Hydrocephalus Syndrome
Frontal bossing, Hypertelorism, Micrognathia, Dolichocephaly, Orbital craniosynostosis ORPHA:1538
Chudley-Mccullough Syndrome
Dysplastic corpus callosum, Hydrocephalus, Partial agenesis of the corpus callosum, Cerebellar hy... OMIM:604213
Isolated Pierre Robin Syndrome
Glossoptosis, Cleft palate ORPHA:718
Hearing Loss-Familial Salivary Gland Insensitivity To Aldosterone Syndrome
Abnormal salivary gland morphology ORPHA:3225
Cheilitis Glandularis
Abnormal salivary gland morphology, Thick lower lip vermilion ORPHA:1221
Craniosynostosis 3
Sagittal craniosynostosis, Dental malocclusion, Left unicoronal synostosis, Right unicoronal syno... OMIM:615314
Florid Cemento-Osseous Dysplasia
Abnormal trabecular bone morphology, Jaw swelling, Multiple bony cystic lesions, Mandibular osteo... ORPHA:83451
Ossification Anomalies-Psychomotor Developmental Delay Syndrome
Micrognathia, Metaphyseal widening, Triangular shaped distal phalanges of the hand, Hepatic heman... ORPHA:73230
Oligodontia
Orofacial cleft, Oligodontia, Agenesis of mandibular premolar, Widely spaced teeth, Microdontia, ... ORPHA:99798
Craniosynostosis 7
Craniosynostosis OMIM:617439
Craniosynostosis 5, Susceptibility To
Craniosynostosis OMIM:615529
Trichodentoosseous Syndrome
Frontal bossing, Increased bone mineral density, Taurodontia, Widely spaced teeth, Dolichocephaly... OMIM:190320
Cleft, Median, Of Upper Lip With Polyps Of Facial Skin And Nasal Mucosa
Nasal polyposis, Median cleft lip, High palate, Bifid uvula OMIM:155145
Pierre Robin Sequence With Facial And Digital Anomalies
Glossoptosis, Pierre-Robin sequence, Cleft palate OMIM:311895
Cleft Palate, Cardiac Defect, Genital Anomalies, And Ectrodactyly
Ventricular septal defect, Hypospadias, Cleft upper lip, Cryptorchidism, Patent ductus arteriosus... OMIM:600460
Shprintzen-Goldberg Craniosynostosis Syndrome
Osteopenia, Genu recurvatum, Micrognathia, Hypoplasia of the maxilla, Lateral clavicle hook, Meta... OMIM:182212
Cleidocranial Dysplasia
Mandibular prognathia, Sinusitis, Micrognathia, High, narrow palate, Brachycephaly, Coxa vara, Gl... ORPHA:1452
Hypophosphatasia, Childhood
Frontal bossing, Craniosynostosis, Premature loss of primary teeth, Carious teeth, Proptosis, Dol... OMIM:241510
Pai Syndrome
Median cleft lip, Depressed nasal bridge, Nasal polyposis, Cleft palate, Abnormal oral frenulum m... ORPHA:1993
Van Der Woude Syndrome
Lip pit, Cleft upper lip, Lower lip pit, Cleft palate, Hypodontia, Abnormal salivary gland morpho... ORPHA:888
Amelogenesis Imperfecta
Abnormality of dental color, Fragile teeth, Hypomature dental enamel, Enamel hypomineralization, ... ORPHA:88661
Osteoglophonic Dysplasia
Osteopenia, Mandibular prognathia, Respiratory distress, Short neck, Hypoplasia of the maxilla, S... OMIM:166250
Palatopharyngeal Incompetence
Velopharyngeal insufficiency, Cleft palate OMIM:167500
Ulna And Fibula, Absence Of, With Severe Limb Deficiency
Small scrotum, Short neck, Aplasia/hypoplasia of the extremities, Hemivertebrae, Femoral bowing, ... OMIM:276820
Lethal Congenital Contracture Syndrome 3
Neonatal death, Arthrogryposis multiplex congenita, Multiple joint contractures, Respiratory insu... OMIM:611369
Orofacial Cleft 5
Cleft palate, Cleft upper lip OMIM:608874
Orofacial Cleft 6, Susceptibility To
Cleft palate, Cleft upper lip OMIM:608864
Orofacial Cleft 1
Cleft palate, Cleft upper lip OMIM:119530
Orofacial Cleft 10
Unilateral cleft palate, Unilateral cleft lip OMIM:613705
Melkersson-Rosenthal Syndrome
Furrowed tongue OMIM:155900
Moebius Syndrome
Aplasia/Hypoplasia of the thumb, Skeletal muscle atrophy, Micrognathia, Aplasia of the pectoralis... ORPHA:570
Tetraamelia Syndrome 2
Absent nipple, Bilateral cleft lip, Cleft palate, Glossoptosis, Ankyloglossia OMIM:618021
Muenke Syndrome
Broad hallux, Hypertelorism, Capitate-hamate fusion, Dental malocclusion, Brachycephaly, Coronal ... OMIM:602849
Non-Syndromic Bicoronal Craniosynostosis
Hypertelorism, Brachycephaly, Proptosis, Metacarpal synostosis, Midface retrusion ORPHA:35099
Autosomal Recessive Distal Osteolysis Syndrome
Abnormality of the dentition, Hypoplasia of the maxilla, Osteolysis, Proptosis, Midface retrusion ORPHA:2776
Crouzon Syndrome With Acanthosis Nigricans
Craniosynostosis, Hypertelorism, Brachycephaly, Proptosis, Midface retrusion OMIM:612247
Summitt Syndrome
Oxycephaly, Craniosynostosis OMIM:272350
Lowry-Maclean Syndrome
Delayed eruption of teeth, Craniosynostosis, Microcephaly, Cleft palate, Intrauterine growth reta... OMIM:600252
Granulomas, Congenital Cerebral
Neonatal death OMIM:306300
Genitourinary Tract Anomalies
Neonatal death OMIM:305690
Craniosynostosis, Philadelphia Type
Craniosynostosis ORPHA:1527
Bartsocas-Papas Syndrome 1
Skin tags, Cicatricial lagophthalmos, Hypoplasia of the maxilla, Micrognathia, Bilateral cryptorc... OMIM:263650
Meier-Gorlin Syndrome 7
Urethral stricture, Bowing of the legs, Anteriorly placed anus, Vertebral segmentation defect, Co... OMIM:617063
Frontometaphyseal Dysplasia 1
Carpal synostosis, Selective tooth agenesis, Limited elbow movement, Absent frontal sinuses, Knee... OMIM:305620
Short Stature, Auditory Canal Atresia, Mandibular Hypoplasia, And Skeletal Abnormalities
Micrognathia, High palate, Narrow greater sciatic notch, Conductive hearing impairment, Joint con... OMIM:602471
Kniest Dysplasia
Arthropathy, Enlarged epiphyses, Enlarged joints, Abnormality of the epiphysis of the femoral hea... ORPHA:485
Meier-Gorlin Syndrome 1
Genu recurvatum, Micrognathia, Hypoplasia of the maxilla, Lateral clavicle hook, Flat glenoid fos... OMIM:224690
Dentin Dysplasia, Type I
Pulp obliteration, Periapical bone loss, Oligodontia, Taurodontia, Short dental root, Microdontia... OMIM:125400
Mandibuloacral Dysplasia With Type A Lipodystrophy
Abnormal eyebrow morphology, Aplasia/Hypoplasia of the clavicles, Alopecia, Hearing impairment, A... ORPHA:90153
Craniosynostosis 6
Cerebellar atrophy, Turricephaly, Delayed cranial suture closure, Craniosynostosis, Microcephaly,... OMIM:616602
Cousin Syndrome
Micrognathia, Short neck, Ambiguous genitalia, female, Prominent protruding coccyx, Low anterior ... OMIM:260660
Primary Condylar Hyperplasia
Anterior open-bite malocclusion, Abnormality of the temporomandibular joint, Macrodontia, Abnorma... ORPHA:477781
Osteogenesis Imperfecta, Type X
Osteopenia, Respiratory distress, Thoracic scoliosis, Micromelia, Micrognathia, Generalized joint... OMIM:613848
Microcephaly-Cervical Spine Fusion Anomalies Syndrome
Abnormal clavicle morphology, Abnormal dental morphology, Hypospadias, Micrognathia, Malar promin... ORPHA:2522
Apert Syndrome
Mandibular prognathia, Limited elbow movement, Delayed epiphyseal ossification, Pectus carinatum,... OMIM:101200
Craniosynostosis 1
Frontal bossing, Turricephaly, Sagittal craniosynostosis, Craniosynostosis, Oxycephaly, Scaphocep... OMIM:123100
Pfeiffer Syndrome
Mandibular prognathia, Syndactyly, Finger syndactyly, Shortening of all middle phalanges of the f... OMIM:101600
Marshall-Smith Syndrome
Irregular dentition, Thoracic scoliosis, Large sternal ossification centers, Apnea, Accelerated s... OMIM:602535
Thoc6-Related Developmental Delay-Microcephaly-Facial Dysmorphism Syndrome
Atrial septal defect, Micropenis, Thick upper lip vermilion, Hypospadias, Abnormality of the kidn... ORPHA:363444
Au-Kline Syndrome
Downturned corners of mouth, Oligodontia, Vertebral segmentation defect, High palate, Shallow orb... OMIM:616580
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency
Decreased circulating cortisol level, High, narrow palate, Narrow chest, Conductive hearing impai... ORPHA:95699
Opsismodysplasia
Short neck, Hypoplastic vertebral bodies, Narrow chest, Shallow orbits, Short palm, Short phalanx... OMIM:258480
Premature Aging Syndrome, Penttinen Type
Aplasia of the nasal bone, Micrognathia, Hypoplasia of the maxilla, Hyperextensibility of the kne... OMIM:601812
Microcephalic Osteodysplastic Primordial Dwarfism, Type Ii
Distal symphalangism, Coxa vara, Tibial bowing, Narrow chest, Hypoplastic iliac wing, Clinodactyl... OMIM:210720
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome
Osteopenia, Multiple joint contractures, Micrognathia, Metaphyseal widening, Multiple joint dislo... ORPHA:536467
Aurocephalosyndactyly
Craniosynostosis OMIM:109050
Schizencephaly
Schizencephaly, Agenesis of corpus callosum, Cerebral cortical atrophy OMIM:269160
Kbg Syndrome
Persistent open anterior fontanelle, Short neck, Synophrys, Finger clinodactyly, Widely-spaced ma... ORPHA:2332
Acro-Renal-Mandibular Syndrome
Abnormal clavicle morphology, Congenital diaphragmatic hernia, Micrognathia, Short neck, Abnormal... ORPHA:958
Craniotelencephalic Dysplasia
Frontal bossing, Septo-optic dysplasia, Craniosynostosis, Microcephaly, Hydrocephalus, Lissenceph... ORPHA:1528
Lethal Osteosclerotic Bone Dysplasia
Respiratory distress, Anteverted nares, Posteriorly rotated ears, Micrognathia, Short neck, Dyspn... ORPHA:1832
Ear-Patella-Short Stature Syndrome
Hypoplasia of penis, Micrognathia, Hypoplasia of the maxilla, High, narrow palate, Epispadias, Cl... ORPHA:2554
Fibrochondrogenesis 1
Short neck, Narrow greater sciatic notch, Short palm, Clinodactyly of the 5th finger, Widely pate... OMIM:228520
Trigonocephaly-Short Stature-Developmental Delay Syndrome
Small for gestational age, Short stature, Fifth finger distal phalanx clinodactyly, Postnatal gro... ORPHA:3369
Dyssegmental Dysplasia, Silverman-Handmaker Type
Micromelia, Bowing of the legs, Micrognathia, Short neck, Flexion contracture, Narrow chest, Pter... ORPHA:1865
Schinzel-Giedion Syndrome
Respiratory distress, Abnormal clavicle morphology, Micrognathia, Short neck, Abnormality of the ... ORPHA:798
Greig Cephalopolysyndactyly Syndrome
Abnormal calvaria morphology, Camptodactyly of toe, Broad hallux phalanx, Broad hallux, 1-3 toe s... OMIM:175700
Short-Rib Thoracic Dysplasia 12
Bowing of the legs, Short neck, Lobulated tongue, Thoracic dysplasia, Narrow chest, Holoprosencep... OMIM:269860
Ankyloblepharon Filiforme Adnatum-Imperforate Anus Syndrome
Tooth agenesis, Non-midline cleft lip, Cleft palate, Cryptorchidism ORPHA:1074
Lacrimoauriculodentodigital Syndrome
Micrognathia, Xerostomia, Orofacial cleft, Microdontia, Vesicoureteral reflux, Abnormal salivary ... ORPHA:2363
Pelvis-Shoulder Dysplasia
Aplasia/Hypoplasia of the scapulae, Aplasia/Hypoplasia of the fibula, Micrognathia, Prominent pro... ORPHA:2839
Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly
Short lingual frenulum, Micromelia, Renal cyst, Fused teeth, High palate, Narrow chest, Thoracic ... OMIM:614091
Greig Cephalopolysyndactyly Syndrome
Finger syndactyly, Broad hallux phalanx, Toe syndactyly, Frontal bossing, Craniosynostosis, Hyper... ORPHA:380
Ankyloglossia With Or Without Tooth Anomalies
Supernumerary tooth, Ankyloglossia OMIM:106280
Marbach-Rustad Progeroid Syndrome
Femur fracture, Delayed eruption of primary teeth, Micrognathia, Reduced bone mineral density, Er... OMIM:619322
Alg9-Cdg
Villous atrophy, Micrognathia, Short neck, Abnormal lung lobation, Large fleshy ears, Narrow grea... ORPHA:79328
Multiple Pterygium Syndrome, Escobar Variant
Multiple joint contractures, Micrognathia, Short neck, Flexion contracture, Knee flexion contract... OMIM:265000
Coffin-Lowry Syndrome
Mandibular prognathia, Hyperextensibility of the finger joints, Rectal prolapse, Thick nasal sept... OMIM:303600
Lipoid Proteinosis
Nasal polyposis, Abnormal oral mucosa morphology, Abnormality of the gingiva, Thick lower lip ver... ORPHA:530
Structural Brain Anomalies With Impaired Intellectual Development And Craniosynostosis
Flat occiput, Delayed closure of the anterior fontanelle, Microcephaly, Hypoplasia of the pons, B... OMIM:618736
Cleft Palate, Isolated
Micrognathia, Gingival overgrowth, Cleft palate, Anterior open-bite malocclusion, Increased overbite OMIM:119540
Summitt Syndrome
Finger syndactyly, Prominent metopic ridge, Camptodactyly of finger, Craniosynostosis, Hypertelor... ORPHA:3210
46,Xy Sex Reversal 9
Sex reversal, Gonadal dysgenesis, Fused labia minora, Ambiguous genitalia OMIM:616067
Ankyloblepharon Filiforme Adnatum And Cleft Palate
Cleft palate, Cleft upper lip OMIM:106250
Intellectual Developmental Disorder With Cardiac Defects And Dysmorphic Facies
Mesenteric cyst, Parachute mitral valve, Synophrys, Short philtrum, Gastroesophageal reflux, Atri... OMIM:618316
3M Syndrome
Congenital hip dislocation, Micromelia, Short neck, Increased vertebral height, Protruding ear, E... ORPHA:2616
Cutis Laxa, Autosomal Recessive, Type Iie
High palate, Clinodactyly of the 5th finger, Genu varum, Joint laxity, Syndactyly, Lumbar hyperlo... OMIM:619451
Ritscher-Schinzel Syndrome 1
Syndactyly, Ventricular septal defect, Hypospadias, Decreased response to growth hormone stimulat... OMIM:220210
De Barsy Syndrome
Osteopenia, Decreased muscle mass, Congenital hip dislocation, Generalized joint laxity, Brachyce... ORPHA:2962
Craniosynostosis 2
Frontal bossing, Bicoronal synostosis, Wormian bones, Turricephaly, Cleft soft palate, Craniosyno... OMIM:604757
Variant Abeta2M Amyloidosis
Multiple bony cystic lesions, Intestinal perforation, Cardiac amyloidosis, Abnormal vascular morp... ORPHA:314652
Atelosteogenesis, Type I
Micrognathia, Short neck, Short metatarsal, Tibial bowing, Knee dislocation, Narrow chest, Neonat... OMIM:108720
Fallot Complex-Intellectual Disability-Growth Delay Syndrome
Unilateral ptosis, Thin upper lip vermilion, Overriding aorta, Frontal hirsutism, Micrognathia, C... ORPHA:3304
Larsen-Like Osseous Dysplasia-Short Stature Syndrome
Low-set, posteriorly rotated ears, Narrow mouth, Abnormal form of the vertebral bodies, Reduced b... ORPHA:2370
Ventriculomegaly And Arthrogryposis
Ulnar deviation of the wrist, Cerebellar hypoplasia, Arthrogryposis multiplex congenita, Agenesis... OMIM:619501
Platyspondylic Dysplasia, Torrance Type
Bowing of the long bones, Hypoplastic scapulae, Micromelia, Short thorax, Abnormal carpal morphol... ORPHA:85166
Cutis Laxa, Autosomal Recessive, Type Iiib
Osteopenia, Posteriorly rotated ears, Pyloric stenosis, Cryptorchidism, Prominent ear helix, Hip ... OMIM:614438
Craniosynostosis, Herrmann-Opitz Type
Finger syndactyly, Turricephaly, Short stature, Craniosynostosis, Micrognathia, Abnormality of th... ORPHA:2145
Chromosome 17Q11.2 Duplication Syndrome, 1.4-Mb
Thin upper lip vermilion, Bifid nasal tip, Bilateral cleft lip and palate, High palate, Macroorch... OMIM:618874
Ehlers-Danlos Syndrome, Dermatosparaxis Type
Osteopenia, Redundant skin, Micrognathia, Short phalanx of finger, Joint laxity, Wide anterior fo... OMIM:225410
Sin3A-Related Intellectual Disability Syndrome Due To A Point Mutation
Joint hypermobility, Mild malformation of cortical development, Dysplastic corpus callosum, Abnor... ORPHA:500166
Non-Syndromic Bilambdoid And Sagittal Craniosynostosis
Frontal bossing, Short stature, Craniosynostosis, Dolichocephaly, Hypertelorism, Micrognathia, Wi... ORPHA:1516
Cranioectodermal Dysplasia
Finger syndactyly, Brachydactyly, Frontal bossing, Rhizomelia, Abnormal dental enamel morphology,... ORPHA:1515
Barber-Say Syndrome
Mandibular prognathia, Redundant skin, Micrognathia, Hypoplasia of the maxilla, Low anterior hair... OMIM:209885
Orofaciodigital Syndrome V
Thin upper lip vermilion, Median cleft lip, Aganglionic megacolon, Unilateral cryptorchidism, Ham... OMIM:174300
Intellectual Disability, Wolff Type
Microretrognathia, Hypospadias, Camptodactyly of finger, Cryptorchidism, Non-midline cleft lip, T... ORPHA:3080
Pierre Robin Syndrome And Oligodactyly
Pierre-Robin sequence, Cleft palate OMIM:172880
X-Linked Intellectual Disability, Stoll Type
Malar flattening, Hypertelorism, Frontal bossing, Long philtrum ORPHA:85326
Acrorenal-Mandibular Syndrome
Congenital diaphragmatic hernia, Micrognathia, Abnormality of the breast, Hemivertebrae, Aplasia ... OMIM:200980
Pyknoachondrogenesis
Craniofacial hyperostosis, Abnormal intramembranous ossification, Palpebral edema, Micromelia, Sh... ORPHA:3003
Metatropic Dysplasia
Abnormal metaphyseal vascular invasion, Enlarged joints, Flexion contracture, Long coccyx, Halber... OMIM:156530
14Q24.1Q24.3 Microdeletion Syndrome
Joint laxity, Thin upper lip vermilion, Limited elbow extension and supination, Brachydactyly, Ve... ORPHA:401935
Spondyloepimetaphyseal Dysplasia Congenita, Strudwick Type
Abnormally ossified vertebrae, Restricted large joint movement, Maternal diabetes, Micrognathia, ... ORPHA:93346
Microcephaly-Polymicrogyria-Corpus Callosum Agenesis Syndrome
Cerebellar hypoplasia, Primary microcephaly, Polymicrogyria, Agenesis of corpus callosum, Ventric... ORPHA:171703
Rubinstein-Taybi Syndrome 2
Prominent nose, Micrognathia, High palate, Prominent fingertip pads, Posterior helix pit, Syndact... OMIM:613684
Chromosome 9P Deletion Syndrome
Short neck, Micrognathia, High, narrow palate, Deep philtrum, High palate, Atrial septal defect, ... OMIM:158170
Otopalatodigital Syndrome Type 1
Proximal placement of thumb, Oligodontia, Short palm, Abnormal vertebral segmentation and fusion,... ORPHA:90650
Craniosynostosis-Mental Retardation-Clefting Syndrome
Craniosynostosis, Microcephaly, Orofacial cleft, Forearm undergrowth, Lower limb undergrowth, Con... OMIM:218650
Noonan Syndrome-Like Disorder With Loose Anagen Hair 2
Short neck, Deep philtrum, Pectus carinatum, Coarse hair, High palate, Widely spaced teeth, Thick... OMIM:617506
Tricho-Dento-Osseous Syndrome
Frontal bossing, Dental enamel pits, Increased bone mineral density, Periapical tooth abscess, En... ORPHA:3352
Multiple Synostoses Syndrome 3
Limited interphalangeal movement, Cubitus valgus, Humeroradial synostosis, Proptosis, Dolichoceph... OMIM:612961
Craniotelencephalic Dysplasia
Absent septum pellucidum, Craniosynostosis, Lissencephaly, Cerebellar hypoplasia, Agenesis of cor... OMIM:218670
Ulnar-Mammary Syndrome
Abnormal clavicle morphology, Hypoplasia of penis, Aplasia of the pectoralis major muscle, Abnorm... ORPHA:3138
Campomelic Dysplasia
Irregular dentition, Thoracic scoliosis, Anterior tibial bowing, Cervical kyphosis, Micrognathia,... OMIM:114290
Chondrodysplasia With Joint Dislocations, Gpapp Type
Micrognathia, Coronal craniosynostosis, Knee dislocation, Irregular epiphyses of the metacarpals,... OMIM:614078
Multiple Epiphyseal Dysplasia, Al-Gazali Type
Frontal bossing, Enlarged joints, Short stature, Hypertelorism, Delayed epiphyseal ossification, ... ORPHA:166024
Klippel-Feil Syndrome 4, Autosomal Recessive, With Nemaline Myopathy And Facial Dysmorphism
Thin upper lip vermilion, Thoracolumbar scoliosis, Underdeveloped nasal alae, Micrognathia, Short... OMIM:616549
Congenital Heart Defects And Skeletal Malformations Syndrome
Dental crowding, Congenital diaphragmatic hernia, Downturned corners of mouth, High palate, Atria... OMIM:617602
Intellectual Developmental Disorder, Autosomal Dominant 26
Micrognathia, Deep philtrum, Short philtrum, Clinodactyly of the 5th finger, Depressed nasal brid... OMIM:615834
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome
Osteopenia, Downturned corners of mouth, Oligodontia, Vertebral segmentation defect, High palate,... ORPHA:453499
Congenital Laryngomalacia
Non-midline cleft lip, Cleft palate ORPHA:2373
Amelogenesis Imperfecta, Type Iiia
Anterior open-bite malocclusion, Dental malocclusion, Amelogenesis imperfecta OMIM:130900
Mucolipidosis Ii Alpha/Beta
Osteopenia, Brittle hair, Micrognathia, Metaphyseal widening, Death in childhood, Sparse hair, Pr... OMIM:252500
Congenital Hemidysplasia With Ichthyosiform Erythroderma And Limb Defects
2-5 finger syndactyly, Parakeratosis, Congenital hip dislocation, Adrenal hypoplasia, Micrognathi... OMIM:308050
Hadziselimovic Syndrome
Ventricular hypertrophy, Epicanthus, Ventricular septal defect, Posteriorly rotated ears, Delayed... OMIM:612946
Cleft Palate, Cardiac Defects, And Impaired Intellectual Development
Tented upper lip vermilion, Secundum atrial septal defect, Gastroesophageal reflux, Atrial septal... OMIM:600987
19Q13.11 Microdeletion Syndrome
Bifid scrotum, Congenital hip dislocation, Sparse hair, Clinodactyly of the 5th finger, Finger sy... ORPHA:217346
Aarskog-Scott Syndrome
Genu recurvatum, Short neck, Hypoplasia of the maxilla, Orofacial cleft, Short palm, Clinodactyly... ORPHA:915
Short-Rib Thoracic Dysplasia 20 With Polydactyly
Large posterior fontanelle, Micrognathia, Lateral clavicle hook, Short neck, Preaxial polydactyly... OMIM:617925
Auriculocondylar Syndrome 2A
Overfolding of the superior helices, Posteriorly rotated ears, Dental crowding, Micrognathia, Nar... OMIM:614669
Scalp-Ear-Nipple Syndrome
Mandibular prognathia, Underdeveloped antitragus, Anteverted ears, Aplasia/Hypoplasia of the nipp... OMIM:181270
Larsen-Like Syndrome
Joint laxity, Joint dislocation, Frontal bossing, Wide anterior fontanel, Dental malocclusion, Br... OMIM:608545
Congenital Absence Of Upper Arm And Forearm With Hand Present
Syndactyly, Renal agenesis, Abnormal lung morphology, Cleft palate, Abnormal heart morphology, At... ORPHA:294975
Teebi Hypertelorism Syndrome 2
Delayed eruption of teeth, Syndactyly, Thin upper lip vermilion, Depressed nasal bridge, Hypospad... OMIM:619736
Craniofrontonasal Dysplasia
Abnormal clavicle morphology, Congenital diaphragmatic hernia, Aplasia/Hypoplasia of the nipples,... ORPHA:1520
Sandestig-Stefanova Syndrome
Laterally extended eyebrow, Epicanthus, Prominent metopic ridge, Rocker bottom foot, Highly arche... OMIM:618804
Lissencephaly 4
Simplified gyral pattern, Colpocephaly, Lissencephaly, Cerebellar hypoplasia, Primary microcephal... OMIM:614019
Cole-Carpenter Syndrome 1
Osteopenia, Frontal bossing, Wormian bones, Recurrent fractures, Micrognathia, Reduced bone miner... OMIM:112240
Craniosynostosis 4
Sagittal craniosynostosis, Hypertelorism, Proptosis, Pansynostosis, Lambdoidal craniosynostosis, ... OMIM:600775
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 1
Osteopenia, Dental crowding, Synophrys, High palate, Conductive hearing impairment, Clinodactyly ... OMIM:617877
Recombinant Chromosome 8 Syndrome
Micrognathia, Downturned corners of mouth, Clinodactyly of the 5th finger, Atrial septal defect, ... OMIM:179613
Crouzon Syndrome
Mandibular prognathia, Abnormality of the cervical spine, Dental crowding, Sagittal craniosynosto... OMIM:123500
Cleidocranial Dysplasia 1
Persistent open anterior fontanelle, Micrognathia, Short middle phalanx of the 2nd finger, High, ... OMIM:119600
Limb-Mammary Syndrome
Cleft hard palate, Protruding ear, Aplasia of the ovary, Clinodactyly of the 5th finger, Bifid uv... ORPHA:69085
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 3
Osteopenia, High palate, Short phalanx of finger, Bifid uvula, Dislocated radial head, Joint laxi... OMIM:612350
Chromosome 2Q35 Duplication Syndrome
Distal symphalangism of hands, Sagittal craniosynostosis OMIM:185900
Microcephaly 5, Primary, Autosomal Recessive
Flat occiput, Microcephaly, Cortical dysplasia, Simplified gyral pattern, Small cerebral cortex, ... OMIM:608716
Pelviscapular Dysplasia
Frontal bossing, Short femur, Redundant neck skin, Abnormal pinna morphology, Hearing impairment,... ORPHA:93333
Hypogonadotropic Hypogonadism 26 With Or Without Anosmia
Osteopenia, Bicoronal synostosis, Diastema, Agenesis of molar, Supernumerary tooth, Osteoporosis,... OMIM:619718
Gillessen-Kaesbach-Nishimura Syndrome
Micrognathia, Short neck, Metaphyseal widening, Flexion contracture, Abnormal lung lobation, Larg... OMIM:263210
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion
Osteopenia, Intestinal pseudo-obstruction, High, narrow palate, Protruding ear, Downturned corner... ORPHA:352665
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation
Osteopenia, Intestinal pseudo-obstruction, High, narrow palate, Protruding ear, Downturned corner... ORPHA:453504
Trigonocephaly With Short Stature And Developmental Delay
Posteriorly rotated ears, Sagittal craniosynostosis, Trigonocephaly, Wide nasal bridge, Premature... OMIM:314320
Van Den Ende-Gupta Syndrome
Dental crowding, Glenoid fossa hypoplasia, Micrognathia, Hypoplasia of the maxilla, High, narrow ... OMIM:600920
Multiple Pterygium Syndrome, X-Linked
Joint dislocation, Vertebral fusion, Epicanthus, Abnormal cervical curvature, Multiple pterygia, ... OMIM:312150
Burn-Mckeown Syndrome
Mandibular prognathia, Micrognathia, Protruding ear, Short philtrum, Conductive hearing impairmen... OMIM:608572
Larsen Syndrome
Cervical kyphosis, Short metatarsal, Pectus carinatum, Knee dislocation, Shallow orbits, Conducti... OMIM:150250
Robin Sequence-Oligodactyly Syndrome
Glossoptosis, Cleft palate, Abnormality of the dentition ORPHA:3104
Craniosynostosis, Adelaide Type
Hallux valgus, Shortening of all middle phalanges of the fingers, Craniosynostosis, Carpal bone m... OMIM:600593
Dyssegmental Dysplasia, Rolland-Desbuquois Type
Encephalocele, Bowing of the long bones, Broad long bones, Micromelia, Micrognathia, Short neck, ... OMIM:224400
Spondyloepiphyseal Dysplasia-Craniosynostosis-Cleft Palate-Cataracts-Intellectual Disability Syndrome
Micrognathia, Short neck, Oligosacchariduria, Downturned corners of mouth, High palate, Narrow ch... ORPHA:163649
Amelogenesis Imperfecta, Hypomaturation Type, Iia6
Anterior open-bite malocclusion, Enamel hypomineralization, Amelogenesis imperfecta OMIM:617217
Isolated Sedoheptulokinase Deficiency
Renal insufficiency, Short stature, Portal hypertension, Flexion contracture, Large fontanelles, ... ORPHA:440713
Aymé-Gripp Syndrome
Oligodontia, Shallow orbits, Clinodactyly of the 5th finger, Prominent metopic ridge, Depressed n... ORPHA:1272
Camptodactyly Syndrome, Guadalajara Type 1
Attached earlobe, Mandibular prognathia, Brachycephaly, Downturned corners of mouth, High palate,... ORPHA:1327
Postaxial Acrofacial Dysostosis
Congenital hip dislocation, Conical tooth, Micrognathia, Eyelid coloboma, Supernumerary vertebrae... OMIM:263750
Amelogenesis Imperfecta, Type Ia
Dental enamel pits, Taurodontia, Generalized microdontia, Enamel hypoplasia, Amelogenesis imperfecta OMIM:104530
Apert Syndrome
Mandibular prognathia, Aplasia/Hypoplasia of the thumb, Micromelia, Hypoplasia of the maxilla, Ve... ORPHA:87
Intellectual Developmental Disorder With Dysmorphic Facies And Ptosis
Ptosis, Hypertelorism, Narrow mouth, Wide nasal bridge, Downturned corners of mouth, Wide mouth, ... OMIM:617333
Robinow Syndrome, Autosomal Recessive 1
Tented upper lip vermilion, Dental crowding, Micrognathia, Short neck, Hemivertebrae, Nephrocalci... OMIM:268310
Achondrogenesis, Type Ia
Abnormal femoral metaphysis morphology, Micromelia, Bowing of the legs, Beaded ribs, Abnormal han... OMIM:200600
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia
Bifid scrotum, Hypoplastic pubic ramus, Proximal placement of thumb, Micrognathia, Short neck, Sh... OMIM:609945
17Q21.31 Microduplication Syndrome
Toe syndactyly, Anteverted nares, Sandal gap, Micrognathia, Abnormality of the dentition, Microce... ORPHA:217340
Rapp-Hodgkin Syndrome
Conical tooth, Hypoplasia of the maxilla, 2-3 toe cutaneous syndactyly, Microdontia, Sparse hair,... OMIM:129400
Alpha-Mannosidosis
Mandibular prognathia, Craniofacial hyperostosis, Bowing of the long bones, Depressed nasal bridg... ORPHA:61
Bone Fragility With Contractures, Arterial Rupture, And Deafness
Osteopenia, Contracture of the proximal interphalangeal joint of the 2nd finger, Anteverted nares... OMIM:612394
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 2
Osteopenia, Sparse hair, Joint contracture, Joint laxity, Increased susceptibility to fractures, ... OMIM:615349
Congenital Arthrogryposis With Anterior Horn Cell Disease
Rocker bottom foot, Short neck, Micrognathia, Kyphosis, Respiratory insufficiency due to muscle w... OMIM:611890
Congenital Velopharyngeal Incompetence
Velopharyngeal insufficiency, Abnormal palate morphology ORPHA:2291
Adenylosuccinate Lyase Deficiency
Thin upper lip vermilion, Prominent metopic ridge, Flat occiput, Anteverted nares, Microcephaly, ... ORPHA:46
Aminopterin Syndrome Sine Aminopterin
Syndactyly, Frontal bossing, Rudimentary postaxial polydactyly of hands, Arachnodactyly, Short st... OMIM:600325
Fraser Syndrome 1
Aplasia/Hypoplasia of the thumb, Dental crowding, Calvarial skull defect, Malformed lacrimal duct... OMIM:219000
Restrictive Dermopathy
Osteopenia, Ureteral duplication, Multiple joint contractures, Micrognathia, Scaling skin, Sparse... ORPHA:1662
Ablepharon Macrostomia Syndrome
Hypoplasia of penis, Redundant skin, Hypoplasia of the maxilla, Aplasia/Hypoplasia of the nipples... ORPHA:920
Neurodevelopmental Disorder With Short Stature, Prominent Forehead, And Feeding Difficulties
Death in infancy, Epicanthus, Sparse eyelashes, Urinary incontinence, Rocker bottom foot, Tapered... OMIM:620070
Symphalangism, Distal
Distal foot symphalangism, Distal symphalangism of hands, Craniosynostosis OMIM:185700
Spondyloepiphyseal Dysplasia With Atlantoaxial Instability
Os odontoideum, Joint laxity, Lumbar hyperlordosis, Spondylolisthesis at L5-S1, Delayed skeletal ... OMIM:600561
Hemifacial Hyperplasia
Hypoplasia of the maxilla, Dental malocclusion OMIM:133900
Barber-Say Syndrome
Delayed eruption of teeth, Ablepharon, Telecanthus, Aplasia/Hypoplasia of the skin, Abnormal pinn... ORPHA:1231
Congenital Anomalies Of Kidney And Urinary Tract Syndrome With Or Without Hearing Loss, Abnormal Ears, Or Developmental Delay
Congenital diaphragmatic hernia, Ectopic kidney, Anteverted ears, Deep philtrum, Vesicoureteral r... OMIM:617641
Brachycephaly, Deafness, Cataract, Microstomia, And Impaired Intellectual Development
Finger clinodactyly, Shallow orbits, Depressed nasal bridge, Tapered finger, Hypertelorism, Crypt... OMIM:601353
Schinzel-Giedion Midface Retraction Syndrome
Abnormal nasopharynx morphology, Increased density of long bones, Short neck, Tibial bowing, Hypo... OMIM:269150
Spondylodysplastic Ehlers-Danlos Syndrome
Osteopenia, Joint dislocation, Abnormality of the temporomandibular joint, Numerous nevi, Multipl... ORPHA:536471
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14
Mandibular prognathia, Tented upper lip vermilion, Redundant neck skin, External genital hypoplas... ORPHA:96334
Fontaine Progeroid Syndrome
Mandibular prognathia, Small scrotum, Redundant skin, Micrognathia, High, narrow palate, Synophry... OMIM:612289
Shashi-Pena Syndrome
Accelerated skeletal maturation, Synophrys, Short metacarpal, Highly arched eyebrow, Hyperteloris... OMIM:617190
Lethal Congenital Contracture Syndrome 10
Thoracic scoliosis, Stiff neck, Cardiomegaly, Short neck, Micrognathia, Femoral bowing, High pala... OMIM:617022
Robinow-Sorauf Syndrome
Hallux valgus, Broad hallux, Craniosynostosis, Hypertelorism, Long nose, Bilateral ptosis, Pansyn... OMIM:180750
Pmp22-Rai1 Contiguous Gene Duplication Syndrome
Bicuspid aortic valve, Atrial septal defect, Patent foramen ovale, Foot dorsiflexor weakness, Joi... ORPHA:477817
Tooth Agenesis, Selective, X-Linked, 1
Agenesis of lateral incisor, Aplasia of the maxilla, Selective tooth agenesis, Agenesis of premol... OMIM:313500
Fraser Syndrome
Hypoplasia of penis, Small scrotum, Dental crowding, Calvarial skull defect, Abnormal lung lobati... ORPHA:2052
Schneckenbecken Dysplasia
Short neck, Lateral clavicle hook, Snail-like ilia, Narrow chest, Dumbbell-shaped long bone, Adva... OMIM:269250
Oculocerebrocutaneous Syndrome
Skin tags, Congenital hip dislocation, Congenital diaphragmatic hernia, Orofacial cleft, Eyelid c... ORPHA:1647
Short Stature-Wormian Bones-Dextrocardia Syndrome
Delayed eruption of teeth, Abnormality of the philtrum, Dextrocardia, Camptodactyly of finger, Re... ORPHA:2863
Kimura Disease
Abnormal salivary gland morphology ORPHA:482
Neurodevelopmental Disorder With Impaired Intellectual Development, Hypotonia, And Ataxia
Mandibular prognathia, Relative macrocephaly, Anteverted nares, Tapered finger, Long fingers, Den... OMIM:618292
Microbrachycephaly-Ptosis-Cleft Lip Syndrome
Mandibular prognathia, Flat occiput, Abnormal finger morphology, Abnormality of the ear, Brachyce... ORPHA:2511
Postaxial Acrofacial Dysostosis
Low-set, posteriorly rotated ears, Hypoplasia of the ulna, Finger syndactyly, Camptodactyly of fi... ORPHA:246
Chromosome 16P11.2 Deletion Syndrome, 593-Kb
Hypertelorism, Midface retrusion, Micrognathia OMIM:611913
Hemifacial Atrophy, Progressive
Delayed eruption of teeth, Tongue atrophy, Dental malocclusion, Deeply set eye, Short mandibular ... OMIM:141300
Weill-Marchesani Syndrome 1
Thin bony cortex, Short stature, Proportionate short stature, Joint stiffness, Hypoplasia of the ... OMIM:277600
B4Galt7-Related Spondylodysplastic Ehlers-Danlos Syndrome
Osteopenia, Skeletal muscle atrophy, Flexion contracture, Gingivitis, Long toe, Arachnodactyly, S... ORPHA:75496
Ablepharon-Macrostomia Syndrome
Redundant skin, Anteriorly placed anus, Cutaneous finger syndactyly, Clinodactyly of the 5th fing... OMIM:200110
Isolated Klippel-Feil Syndrome
Spina bifida, Short neck, Abnormal sacrum morphology, Abnormal rib morphology, Cleft palate, Abno... ORPHA:2345
Intellectual Disability-Facial Dysmorphism-Hand Anomalies Syndrome
Thin upper lip vermilion, Brachydactyly, Broad nasal tip, Bifid distal phalanx of the thumb, Tria... ORPHA:370010
Sotos Syndrome
Mandibular prognathia, Accelerated skeletal maturation, High, narrow palate, High palate, Gastroe... OMIM:117550
Focal Dermal Hypoplasia
Congenital diaphragmatic hernia, Subcutaneous nodule, Abnormality of skin pigmentation, Gastroeso... ORPHA:2092
Catel-Manzke Syndrome
Low-set, posteriorly rotated ears, Camptodactyly of finger, Highly arched eyebrow, Joint stiffnes... ORPHA:1388
10Q22.3Q23.3 Microdeletion Syndrome
Intestinal polyposis, Curved middle phalanx of the 4th toe, Epicanthus, Microretrognathia, Arachn... ORPHA:276413
Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion
Decreased response to growth hormone stimulation test, Premature thelarche, Protruding ear, Widel... ORPHA:268261
Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked
Abnormal left ventricular function, Leukopenia, Pulmonary artery atresia, Vesicoureteral reflux, ... OMIM:301056
Multiple Pterygium Syndrome, Lethal Type
Joint dislocation, Vertebral fusion, Epicanthus, Abnormal cervical curvature, Multiple pterygia, ... OMIM:253290
Facial Dysmorphism-Anorexia-Cachexia-Eye And Skin Anomalies Syndrome
Anteverted nares, Short hard palate, Midline defect of the nose ORPHA:1969
Intellectual Developmental Disorder, Autosomal Dominant 52
Prominent nose, Bilateral cryptorchidism, Synophrys, Pectus carinatum, Downturned corners of mout... OMIM:617796
Brachydactyly, Type B1
Type B brachydactyly, Vertebral fusion, Syndactyly, Hypoplastic sacrum, Thoracolumbar scoliosis, ... OMIM:113000
Diaphanospondylodysostosis
Respiratory distress, Absent in utero ossification of vertebral bodies, Micrognathia, Short neck,... OMIM:608022
Maxillonasal Dysplasia, Binder Type
Depressed nasal bridge, Dental malocclusion, Large earlobe, Short columella, Short nose, Short di... OMIM:155050
Hypohidrotic Ectodermal Dysplasia
Abnormal hair quantity, Frontal bossing, Sinusitis, Abnormal dental morphology, Slow-growing hair... ORPHA:238468
Endosteal Hyperostosis, Autosomal Dominant
Dental malocclusion, Hyperostosis, Metacarpal diaphyseal endosteal sclerosis, Torus palatinus, Cl... OMIM:144750
Robinow Syndrome, Autosomal Dominant 2
Dental crowding, Micrognathia, Clinodactyly, Oligodontia, Conductive hearing impairment, Calvaria... OMIM:616331
Stuve-Wiedemann Syndrome 1
Enlarged joints, Micrognathia, Short neck, Femoral bowing, Tibial bowing, Knee flexion contractur... OMIM:601559
Otodental Dysplasia
Delayed eruption of teeth, Agenesis of premolar, Tooth ankylosis, Pulp calcification, Taurodontia... OMIM:166750
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 1
Absence of Stensen duct, Selective tooth agenesis, Decreased response to growth hormone stimulati... OMIM:129900
Cardiocranial Syndrome, Pfeiffer Type
Contracture of the proximal interphalangeal joint of the 2nd finger, Episodic tachypnea, Microgna... ORPHA:2872
Microphthalmia With Cyst, Bilateral Facial Clefts, And Limb Anomalies
Frontal bossing, Telecanthus, Posteriorly rotated ears, Broad proximal phalanges of the hand, Opt... OMIM:607597
Acrofacial Dysostosis, Cincinnati Type
Ablepharon, Aplastic zygomatic arch, Micrognathia, Hypoplasia of the maxilla, Macrotia, Lower eye... OMIM:616462
Spondylometaphyseal Dysplasia, X-Linked
Hyperextensibility of the finger joints, Hip contracture, Enlarged joints, Anteverted nares, Thor... OMIM:313420
Arachnodactyly-Abnormal Ossification-Intellectual Disability Syndrome
Arachnodactyly, Apnea, Micrognathia, Shallow orbits, Short nose, Downslanted palpebral fissures, ... ORPHA:1129
Bent Bone Dysplasia Syndrome 1
Natal tooth, Bent long bone, Micrognathia, Hypoplastic pubic bone, Gingival overgrowth, Hirsutism... OMIM:614592
Prolidase Deficiency
Micrognathia, Low anterior hairline, Reduced bone mineral density, Generalized hirsutism, Papule,... ORPHA:742
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome
Unilateral ptosis, Mandibular prognathia, Thoracic scoliosis, Bicuspid aortic valve, Short neck, ... ORPHA:508498
Ectodermal Dysplasia-Intellectual Disability-Central Nervous System Malformation Syndrome
Hypoplasia of penis, Abnormal eyelid morphology, Microdontia, Hypothyroidism, Abnormal dental ena... ORPHA:1812
Oligomeganephronia
Branchial cyst, Renal insufficiency, Pulmonary venous occlusion, Proteinuria, Unilateral renal ag... ORPHA:2260
Platyspondylic Lethal Skeletal Dysplasia, Torrance Type
Micromelia, Short neck, Narrow chest, Severe limb shortening, Radial bowing, Rhizomelia, Dumbbell... OMIM:151210
Autism Spectrum Disorder Due To Auts2 Deficiency
Micrognathia, Congenital contracture, Short philtrum, Joint contracture of the 5th finger, Anteve... ORPHA:352490
Eiken Syndrome
Epiphyseal dysplasia, Abnormal trabecular bone morphology, Abnormal acetabulum morphology, Thin b... ORPHA:79106
Adducted Thumbs Syndrome
Craniosynostosis, Microcephaly, High, narrow palate, Velopharyngeal insufficiency, Cleft palate, ... OMIM:201550
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 3
Vertebral fusion, Sacral dimple, Death in infancy, Bicuspid aortic valve, Unilateral renal agenes... OMIM:618845
Autosomal Dominant Myopia-Midfacial Retrusion-Sensorineural Hearing Loss-Rhizomelic Dysplasia Syndrome
Frontal bossing, Short femur, Rhizomelia, Hypoplastic scapulae, Dumbbell-shaped long bone, Microm... ORPHA:440354
Lenz-Majewski Hyperostotic Dwarfism
Mandibular prognathia, Hyperextensibility of the finger joints, Anterior pituitary hypoplasia, Mi... OMIM:151050
Corpus Callosum, Agenesis Of
Frontal bossing, Microcephaly, Camptodactyly, Joint contracture of the hand, Agenesis of corpus c... OMIM:217990
Autosomal Recessive Robinow Syndrome
Hypoplasia of penis, Tented upper lip vermilion, Short neck, Micrognathia, Orofacial cleft, Downt... ORPHA:1507
Fg Syndrome Type 1
Dental crowding, Micrognathia, Generalized joint laxity, Abnormal sternum morphology, Fused teeth... ORPHA:93932
Congenital Disorder Of Glycosylation, Type Ih
Death in infancy, Hepatomegaly, Short neck, Cryptorchidism, Patent ductus arteriosus, Thrombocyto... OMIM:608104
Intellectual Developmental Disorder, X-Linked 91
Macrodontia, Small hand, Short foot, High palate, Short 5th finger, Cubitus valgus, Clinodactyly,... OMIM:300577
Achard Syndrome
Joint laxity, Arachnodactyly, Micrognathia, Broad skull, Brachycephaly OMIM:100700
Short Stature-Deafness-Neutrophil Dysfunction-Dysmorphism Syndrome
Craniosynostosis ORPHA:2866
Neurodevelopmental Disorder With Structural Brain Anomalies And Dysmorphic Facies
Ulnar deviation of the wrist, Micrognathia, Hypertelorism, Unilambdoid synostosis, Brachycephaly,... OMIM:618577
Trisomy 4P
Smooth philtrum, Low-set, posteriorly rotated ears, Thick eyebrow, Wide intermamillary distance, ... ORPHA:1738
Ataxia, Intention Tremor, And Hypotonia Syndrome, Childhood-Onset
Ankyloglossia OMIM:619352
Holoprosencephaly 9
Depressed nasal bridge, Decreased response to growth hormone stimulation test, Anterior pituitary... OMIM:610829
Peroxisome Biogenesis Disorder 10A (Zellweger)
Epiphyseal stippling, Hypertelorism, High palate, Micrognathia OMIM:614882
Rubinstein-Taybi Syndrome 1
Respiratory distress, Dental crowding, Premature thelarche, Micrognathia, Bilateral cryptorchidis... OMIM:180849
Mandibuloacral Dysplasia Progeroid Syndrome
Osteopenia, Micrognathia, Flexion contracture, High palate, Short philtrum, Macrovesicular hepati... OMIM:619127
46,Xy Sex Reversal 8
Sex reversal, Cryptorchidism, Male pseudohermaphroditism, Ambiguous genitalia OMIM:614279
Ophthalmoplegia, Progressive, With Scrotal Tongue And Mental Deficiency
Furrowed tongue OMIM:165150
Hyper-Ige Syndrome 1, Autosomal Dominant, With Recurrent Infections
Osteopenia, Frontal bossing, Recurrent fractures, Craniosynostosis, Persistence of primary teeth,... OMIM:147060
Auriculocondylar Syndrome 1
Overfolding of the superior helices, Posteriorly rotated ears, Dental crowding, Micrognathia, Ank... OMIM:602483
Otopalatodigital Syndrome Type 2
Micrognathia, Preaxial polydactyly, Glossoptosis, Oligodontia, Narrow chest, Short palm, Abnormal... ORPHA:90652
Orofaciodigital Syndrome I
Median cleft lip, Hamartoma of tongue, Cleft upper lip, Carious teeth, Pancreatic cysts, Supernum... OMIM:311200
Pycnodysostosis
Obtuse angle of mandible, Persistent open anterior fontanelle, Abnormal clavicle morphology, Decr... ORPHA:763
Hunter-Mcalpine Craniosynostosis Syndrome
Craniosynostosis OMIM:601379
Desbuquois Dysplasia 1
Joint dislocation, Triangular shaped phalanges of the hand, Short neck, Osteoarthritis, Metaphyse... OMIM:251450
Whistling Face Syndrome, Recessive Form
Micrognathia, Short neck, Knee flexion contracture, High palate, Hypertelorism, Ulnar deviation o... OMIM:277720
Odontochondrodysplasia 1
Respiratory distress, Genu recurvatum, Micromelia, Metaphyseal widening, Pectus carinatum, Narrow... OMIM:184260
Weill-Marchesani Syndrome 2
Hypoplasia of the maxilla, Broad skull, Short metatarsal, Brachycephaly, High palate, Shallow orb... OMIM:608328
Spondyloepimetaphyseal Dysplasia, Strudwick Type
Brachydactyly, Club-shaped proximal femur, Anterior rib cupping, Hyperlordosis, Hypoplasia of the... OMIM:184250
Fibrochondrogenesis
Hypoplastic scapulae, Camptodactyly of finger, Micromelia, Short neck, Hearing abnormality, Wide ... ORPHA:2021
Congenital Heart Defects And Ectodermal Dysplasia
Medial flaring of the eyebrow, Sparse scalp hair, Premature loss of primary teeth, 2-3 toe cutane... OMIM:617364
Phenobarbital Embryopathy
Mandibular prognathia, Epicanthus, Hypospadias, Aplasia/Hypoplasia of fingers, Unilateral cleft l... ORPHA:1919
Neu-Laxova Syndrome 1
Micromelia, Swollen lip, Short neck, Micrognathia, Calcaneovalgus deformity, Neonatal death, Pter... OMIM:256520
Melnick-Needles Syndrome
Obtuse angle of mandible, Anterior concavity of thoracic vertebrae, Micrognathia, Tibial bowing, ... OMIM:309350
1Q21.1 Microduplication Syndrome
Hypospadias, Cryptorchidism, Hip dislocation, Hip dysplasia, Gastroesophageal reflux, Talipes equ... ORPHA:250994
Acrofrontofacionasal Dysostosis
Bifid scrotum, Ptosis, Brachydactyly, Hypospadias, Camptodactyly of finger, Micromelia, Brushfiel... ORPHA:1784
Mosaic Trisomy 14
Low-set, posteriorly rotated ears, Frontal bossing, Hypoplasia of penis, Hypospadias, Camptodacty... ORPHA:1703
Cortical Dysplasia, Complex, With Other Brain Malformations 6
Dilated fourth ventricle, Cerebellar vermis hypoplasia, Focal polymicrogyria, Dysgenesis of the b... OMIM:615771
Osteogenesis Imperfecta, Type Vii
Osteopenia, Micromelia, Bowing of the legs, Multiple prenatal fractures, Coxa vara, Death in infa... OMIM:610682
Imperforate Oropharynx-Costovertebral Anomalies Syndrome
Respiratory distress, Hemivertebrae, Abnormal form of the vertebral bodies, Clinodactyly of the 5... ORPHA:2759
Atelosteogenesis, Type Ii
Cervical kyphosis, Micromelia, Micrognathia, Short neck, Increased intervertebral space, Death in... OMIM:256050
Jackson-Weiss Syndrome
Broad hallux, Calcaneonavicular fusion, Craniosynostosis, Hallux varus, Broad first metatarsal, 2... OMIM:123150
Spondylometaphyseal Dysplasia With Corneal Dystrophy
Beaking of vertebral bodies, Brachydactyly, Neonatal respiratory distress, Depressed nasal bridge... OMIM:618961
Kniest Dysplasia
Respiratory distress, Enlarged joints, Short neck, Delayed epiphyseal ossification, Coxa vara, Ti... OMIM:156550
Mulibrey Nanism
Frontal bossing, Short stature, Single transverse palmar crease, Dental crowding, Hypertelorism, ... OMIM:253250
Pierpont Syndrome
Brachycephaly, Deeply set eye, Widely spaced teeth, Short palm, Prominent fingertip pads, Short s... OMIM:602342
Dubowitz Syndrome
Aplasia/Hypoplasia of the thumb, Abnormality of thumb phalanx, Micrognathia, Rectal prolapse, Low... ORPHA:235
Tooth Agenesis, Selective, 9
Microdontia, Taurodontia, Selective tooth agenesis OMIM:617275
Cutis Laxa, Autosomal Recessive, Type Iiia
Congenital hip dislocation, Brachycephaly, Sparse hair, Cryptorchidism, Delayed skeletal maturati... OMIM:219150
Frontometaphyseal Dysplasia
Limited elbow movement, Micrognathia, Metaphyseal widening, Short metatarsal, Sprengel anomaly, O... ORPHA:1826
Grant Syndrome
Joint dislocation, Frontal bossing, Bowing of the long bones, Short stature, Micrognathia, Open b... ORPHA:2097
Melnick-Needles Syndrome
Micrognathia, Narrow chest, Vesicoureteral reflux, Anisospondyly, Hypertelorism, Short thorax, Ab... ORPHA:2484
8Q22.1 Microdeletion Syndrome
Short neck, Hypoplasia of the maxilla, Finger syndactyly, Wide intermamillary distance, Underfold... ORPHA:178303
Congenital Disorder Of Glycosylation, Type Iiy
Brachycephaly, Microcephaly, Hip subluxation, Reduced bone mineral density OMIM:620200
Hereditary Acrokeratotic Poikiloderma
Abnormality of the urethra, Xerostomia, Gingivitis, Palmoplantar hyperkeratosis, Dystrophic finge... ORPHA:2907
Verheij Syndrome
Branchial cyst, Joint laxity, Vertebral fusion, Thin upper lip vermilion, Anteverted nares, Broad... OMIM:615583
Birk-Aharoni Syndrome
Duplicated collecting system, Macrocytic anemia, Micrognathia, Cryptorchidism, Muscular ventricul... OMIM:620071
Cole-Carpenter Syndrome 2
Microretrognathia, Osteopenia, Frontal bossing, Wide cranial sutures, Turricephaly, Recurrent fra... OMIM:616294
Spondylomegaepiphyseal Dysplasia With Upper Limb Mesomelia, Punctate Calcifications, And Deafness
Irregular vertebral endplates, Narrow greater sciatic notch, Hypoplastic iliac wing, Lumbar hyper... OMIM:609616
Oculocerebrocutaneous Syndrome
Alopecia, Congenital hip dislocation, Focal dermal aplasia/hypoplasia, Cryptorchidism, Abnormal t... OMIM:164180
Congenital Unilateral Hypoplasia Of Depressor Anguli Oris
Ventricular septal defect, Congenital diaphragmatic hernia, Renal hypoplasia/aplasia, Joint stiff... ORPHA:1166
Intellectual Disability, Buenos-Aires Type
Mandibular prognathia, Short stature, Abnormal dental morphology, Microcephaly, Hypertelorism, Op... ORPHA:3079
Prognathism, Mandibular
Mandibular prognathia, Thick lower lip vermilion, Craniosynostosis OMIM:176700
Trigonocephaly 1
Craniosynostosis, Microcephaly, High, narrow palate, Wide nasal bridge, Metopic synostosis, Long ... OMIM:190440
Oculoauriculofrontonasal Syndrome
Skin tags, Encephalocele, Ventricular septal defect, Micrognathia, Cleft lip, Conductive hearing ... ORPHA:398156
Craniosynostosis-Hydrocephalus-Arnold-Chiari Malformation Type I-Radioulnar Synostosis Syndrome
Bowing of the long bones, Toe syndactyly, Turricephaly, Craniosynostosis, Hypertelorism, Microgna... ORPHA:171839
Intellectual Developmental Disorder, Autosomal Recessive 44
Depressed nasal bridge, Anteverted nares, Thin vermilion border, Long philtrum, Bifid uvula OMIM:615942
Peroxisome Biogenesis Disorder 8A (Zellweger)
Glossoptosis, Jaundice, Hepatomegaly OMIM:614876
Acrocraniofacial Dysostosis
Micrognathia, Abnormal form of the vertebral bodies, Short philtrum, Triphalangeal thumb, Abnorma... ORPHA:949
Dentinogenesis Imperfecta, Shields Type Iii
Dental enamel pits, Odontodysplasia, Periapical bone loss, Anterior open-bite malocclusion, Denti... OMIM:125500
Williams Syndrome
Osteopenia, Abnormal form of the vertebral bodies, Protruding ear, Nephrocalcinosis, Microdontia,... ORPHA:904
Non-Distal Duplication 10Q
Low-set, posteriorly rotated ears, Depressed nasal bridge, Micrognathia, Hypertelorism, Cryptorch... ORPHA:1695
Clark-Baraitser syndrome
Joint laxity, Exaggerated median tongue furrow, Frontal bossing, Anteverted nares, Genu recurvatu... OMIM:300602
Sweeney-Cox Syndrome
Flat occiput, Uplifted earlobe, Micrognathia, Bilateral cryptorchidism, Low anterior hairline, Br... OMIM:617746
Symphalangism With Multiple Anomalies Of Hands And Feet
Finger syndactyly, 2-5 finger cutaneous syndactyly, Toe syndactyly, Small hypothenar eminence, Ab... ORPHA:3246
2q33.1 deletion syndrome
High palate, Cleft palate DECIPHER:51
Developmental Malformations-Deafness-Dystonia Syndrome
Death in early adulthood, Hypoplastic scapulae, Micromelia, Femoral retroversion, Kyphosis, Senso... ORPHA:79107
Robinow Syndrome, Autosomal Dominant 1
Delayed eruption of teeth, Thin upper lip vermilion, Short lingual frenulum, Dental crowding, Ant... OMIM:180700
Branchioskeletogenital Syndrome
Mandibular prognathia, Attached earlobe, Thickened calvaria, Short neck, Upper limb peromelia, Hy... ORPHA:1299
Neu-Laxova Syndrome 2
Finger syndactyly, Ablepharon, Toe syndactyly, Wide intermamillary distance, Rocker bottom foot, ... OMIM:616038
Jacobsen Syndrome
Short neck, Abnormal form of the vertebral bodies, Eyelid coloboma, Long hallux, Abnormality of t... ORPHA:2308
Cleft Palate-Short Stature-Vertebral Anomalies Syndrome
Thin upper lip vermilion, Short nose, Anteverted nares, Cleft palate ORPHA:2015
Wolf-Hirschhorn Syndrome
Hypoplastic pubic ramus, Congenital diaphragmatic hernia, Micrognathia, Aplasia/Hypoplasia of the... ORPHA:280
Fraser Syndrome 2
Renal agenesis, Intestinal malrotation, Unilateral renal agenesis, Short neck, Rectal atresia, Sh... OMIM:617666
Cenani-Lenz Syndrome
Micromelia, High, narrow palate, Abnormal form of the vertebral bodies, Protruding ear, Foot olig... ORPHA:3258
Erythrokeratodermia Variabilis Et Progressiva 5
Hyperkeratosis, Palmoplantar hyperkeratosis, Joint stiffness OMIM:617756
Ulnar Hemimelia
Glenoid fossa hypoplasia, Limited elbow movement, Osteoarthritis, Abnormal calcification of the c... ORPHA:93320
Band Heterotopia
Hydrocephalus, Subcortical band heterotopia, Plagiocephaly, Lateral ventricle dilatation, Polymic... OMIM:600348
Treacher-Collins Syndrome
Hypoplasia of penis, Small scrotum, Micrognathia, Hypoplasia of the maxilla, Low anterior hairlin... ORPHA:861
Multiple Epiphyseal Dysplasia, Lowry Type
Epiphyseal dysplasia, Brachydactyly, Micrognathia, Cleft hard palate, Broad nasal tip, Delayed ep... ORPHA:166016
Uvula, Bifid
Bifid uvula OMIM:192100
Campomelic Dysplasia
Micrognathia, Short neck, Tibial bowing, Femoral bowing, Narrow chest, Hypoplastic inferior ilia,... ORPHA:140
Mandibulofacial Dysostosis With Alopecia
Dental crowding, Bicuspid aortic valve, Micrognathia, Hypoplasia of the maxilla, Protruding ear, ... OMIM:616367
Codas Syndrome
Delayed eruption of teeth, Short humerus, Short metacarpal, Congenital hip dislocation, Metaphyse... OMIM:600373
Genitopalatocardiac Syndrome
Ventricular septal defect, Hypospadias, Cleft upper lip, Micrognathia, Cleft palate, Renal cyst, ... OMIM:231060
Congenital Disorder Of Glycosylation, Type Iie
Skeletal muscle atrophy, Short neck, Secundum atrial septal defect, Micrognathia, Low anterior ha... OMIM:608779
Arterial Tortuosity Syndrome
Respiratory distress, Myocardial infarction, Coxa vara, Gastroesophageal reflux, Clinodactyly of ... ORPHA:3342
Tooth Agenesis, Selective, 7
Taurodontia, Agenesis of permanent teeth OMIM:616724
Vitamin K Antagonist Embryofetopathy
Brachydactyly, Depressed nasal bridge, Anteverted nares, Choanal atresia, Hypertelorism, Short ne... ORPHA:1914
Ehlers-Danlos Syndrome, Classic-Like, 2
Osteopenia, Thoracic scoliosis, Micrognathia, Short neck, Osteoarthritis, Generalized joint laxit... OMIM:618000
Amelogenesis Imperfecta, Type Ic
Enamel hypomineralization, Anterior open-bite malocclusion, Taurodontia, Yellow-brown discolorati... OMIM:204650
Oculodentodigital Dysplasia, Autosomal Recessive
Dental crowding, Micrognathia, Hypoplasia of the maxilla, Long nose, Brachycephaly, Deeply set ey... OMIM:257850
Thanatophoric Dysplasia, Type I
Short neck, Femoral bowing, Narrow chest, Neonatal death, Cloverleaf skull, Small abnormally form... OMIM:187600
Cardiac-Valvular Ehlers-Danlos Syndrome
Joint dislocation, Dental crowding, Genu recurvatum, Calcaneovalgus deformity, Absent phalangeal ... ORPHA:230851
Mental Retardation, Skeletal Dysplasia, And Abducens Palsy
Prominent metopic ridge, Wide nasal bridge, Fused cervical vertebrae, Short middle phalanx of fin... OMIM:309620
7Q31 Microdeletion Syndrome
Skeletal muscle atrophy, Hypoplasia of the maxilla, Enuresis nocturna, Hypoplasia of the semicirc... ORPHA:251061
Blepharophimosis-Impaired Intellectual Development Syndrome
Synophrys, Flexion contracture, Low anterior hairline, Short philtrum, Widely spaced teeth, Gastr... OMIM:619293
Lamb-Shaffer Syndrome
Epicanthus, Micrognathia, Broad nasal tip, Fused cervical vertebrae, Hip dysplasia, Thick vermili... ORPHA:530983
Chromosome 16P13.3 Duplication Syndrome
Tented upper lip vermilion, Proximal placement of thumb, Micrognathia, Short neck, Epicanthus inv... OMIM:613458
Nager Syndrome
Aplasia/Hypoplasia of the thumb, Sparse lower eyelashes, Micrognathia, Hypoplasia of the maxilla,... ORPHA:245
Chromosome 16Q22 Deletion Syndrome
Micrognathia, Short neck, High palate, Narrow chest, Wide intermamillary distance, Prominent meto... OMIM:614541
14Q11.2 Microdeletion Syndrome
Low-set, posteriorly rotated ears, Epicanthus, Toe syndactyly, Depressed nasal bridge, Exaggerate... ORPHA:261120
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked
Mandibular prognathia, Absent frontal sinuses, Hemivertebrae, Widely-spaced maxillary central inc... OMIM:301040
Congenital Disorder Of Glycosylation, Type Iig
Osteopenia, Thoracic scoliosis, Micrognathia, Short neck, Glossoptosis, Vertebral segmentation de... OMIM:611209
Alg12-Cdg
Proximal placement of thumb, Micrognathia, Short philtrum, Gastroesophageal reflux, Abnormal bone... ORPHA:79324
Scarf Syndrome
Bifid scrotum, Short neck, Abnormal form of the vertebral bodies, Pectus carinatum, Sparse hair, ... ORPHA:3134
Hennekam Lymphangiectasia-Lymphedema Syndrome 1
Ectopic kidney, Rectal prolapse, Conical incisor, Oligodontia, Cutaneous finger syndactyly, Prote... OMIM:235510
Brooke-Spiegler Syndrome
Facial palsy, Hearing impairment, Salivary gland neoplasm, Skin-colored papule, Abnormality of th... ORPHA:79493
Three M Syndrome 2
Delayed eruption of teeth, Frontal bossing, Relative macrocephaly, Depressed nasal bridge, Anteve... OMIM:612921
Pierpont Syndrome
Joint laxity, Thin upper lip vermilion, Small for gestational age, Hypertelorism, Short toe, Brac... ORPHA:487825
Diaphanospondylodysostosis
Respiratory distress, Missing ribs, Short neck, Myelomeningocele, Short thorax, Cleft palate, Nar... ORPHA:66637
Lacrimoauriculodentodigital Syndrome 1
Absence of Stensen duct, Preaxial polydactyly, Xerostomia, Radial deviation of the 3rd finger, Co... OMIM:149730
Branchiootorenal Syndrome 1
Branchial cyst, Congenital hip dislocation, High palate, Conductive hearing impairment, Microdont... OMIM:113650
Wiedemann-Rautenstrauch Syndrome
Osteopenia, Decreased response to growth hormone stimulation test, Synophrys, Wide penis, Abnorma... ORPHA:3455
Familial Scaphocephaly Syndrome, Mcgillivray Type
Mandibular prognathia, Hypertelorism, Open bite, High palate, Dolichocephaly, Trigonocephaly, Mid... ORPHA:168624
Isolated Congenital Hypoglossia/Aglossia
Microglossia, Cleft palate ORPHA:141152
Crane-Heise Syndrome
Low-set, posteriorly rotated ears, Finger syndactyly, Hypoplasia of penis, Toe syndactyly, Hypopl... ORPHA:1512
Ogden Syndrome
Congenital hip dislocation, Bicuspid aortic valve, Apnea, Maternal diabetes, Cardiomegaly, Secund... OMIM:300855
Cerebroretinal Microangiopathy With Calcifications And Cysts 1
Osteopenia, Bowing of the long bones, Metaphyseal sclerosis, Osteoporosis, Optic atrophy, Genu va... OMIM:612199
Cornelia De Lange Syndrome 5
Proximal placement of thumb, Micrognathia, Brachycephaly, Downturned corners of mouth, Deeply set... OMIM:300882
Antley-Bixler Syndrome
Brachycephaly, Femoral bowing, Elbow ankylosis, Low-set, posteriorly rotated ears, Anteverted nar... ORPHA:83
Dyggve-Melchior-Clausen Disease
Mandibular prognathia, Short neck, Metaphyseal widening, Flat glenoid fossa, Short metatarsal, Ti... OMIM:223800
Craniometadiaphyseal Dysplasia, Wormian Bone Type
Osteopenia, Obtuse angle of mandible, Increased bone mineral density, Broad femoral neck, Microgn... ORPHA:85184
Otodental Syndrome
Delayed eruption of teeth, Abnormal dental enamel morphology, Agenesis of premolar, Carious teeth... ORPHA:2791
Microcephalic Osteodysplastic Primordial Dwarfism, Type I
Micromelia, Short neck, Micrognathia, Delayed epiphyseal ossification, Flexion contracture, Preax... OMIM:210710
Multicentric Carpotarsal Osteolysis Syndrome
Osteopenia, Ankle swelling, Micrognathia, Hypoplasia of the maxilla, Wrist swelling, Osteolysis i... OMIM:166300
Hyperphosphatasia With Impaired Intellectual Development Syndrome 1
Mandibular prognathia, Tented upper lip vermilion, Anteriorly placed anus, Downturned corners of ... OMIM:239300
Spondylometaepiphyseal Dysplasia, Short Limb-Hand Type
Micromelia, Bowing of the legs, Micrognathia, Short neck, Depressed nasal ridge, Knee flexion con... OMIM:271665
Neurodevelopmental Disorder With Hypotonia, Language Delay, And Skeletal Defects With Or Without Seizures
Thin upper lip vermilion, Anal stenosis, Depressed nasal bridge, Micrognathia, Narrow mouth, 2-3 ... OMIM:620029
Radioulnar Synostosis-Microcephaly-Scoliosis Syndrome
Finger syndactyly, Short stature, Abnormality of the philtrum, Microcephaly, Abnormality of the d... ORPHA:3268
Mucolipidosis Type Ii
Knee flexion contracture, Abnormal long bone morphology, Narrow chest, Shallow orbits, Conductive... ORPHA:576
Frontoocular Syndrome
Micrognathia, Narrow philtrum, Hypotelorism, Proptosis, High palate, Narrow mouth, Trigonocephaly... OMIM:605321
3C Syndrome
Hypoplasia of penis, Adrenal hypoplasia, Short neck, Micrognathia, High, narrow palate, Hemiverte... ORPHA:7
Frank-Ter Haar Syndrome
Mandibular prognathia, Genu recurvatum, Protruding ear, Deeply set eye, Short philtrum, Clinodact... ORPHA:137834
Renpenning Syndrome
Mandibular prognathia, Skeletal muscle atrophy, High, narrow palate, Short philtrum, Clinodactyly... ORPHA:3242
Cleft Palate-Lateral Synechia Syndrome
Oral synechia, Everted lower lip vermilion, Cleft palate, Narrow mouth ORPHA:2016
Cortical Dysplasia, Complex, With Other Brain Malformations 7
Cerebellar vermis hypoplasia, Unilateral polymicrogyria, Microcephaly, Partial agenesis of the co... OMIM:610031
Saethre-Chotzen Syndrome
Long nose, Hypoplasia of the maxilla, Partial duplication of the distal phalanx of the 3rd finger... OMIM:101400
Deafness-Craniofacial Syndrome
Short lingual frenulum, Abnormality of the dentition, Underdeveloped nasal alae, Wide nasal bridg... ORPHA:3241
Facial Palsy, Congenital, With Ptosis And Velopharyngeal Dysfunction
Velopharyngeal insufficiency OMIM:617732
Mitochondrial Complex I Deficiency, Nuclear Type 39
Hypospadias, Cardiomegaly, Cryptorchidism, Perimembranous ventricular septal defect, Atrial septa... OMIM:620135
15Q24 Microdeletion Syndrome
Decreased response to growth hormone stimulation test, Proximal placement of thumb, Congenital di... ORPHA:94065
Contractures, Pterygia, And Spondylocarpotarsal Fusion Syndrome 1A
Elbow contracture, Multiple pterygia, Short neck, Hemivertebrae, Knee flexion contracture, Pectus... OMIM:178110
Restrictive Dermopathy 1
Ureteral duplication, Adrenal hypoplasia, Micrognathia, Flexion contracture, Overtubulated long b... OMIM:275210
Intellectual Disability And Myopathy Syndrome
Thin upper lip vermilion, Congenital hip dislocation, Achilles tendon contracture, Dental maloccl... OMIM:619719
Intellectual Developmental Disorder, Autosomal Dominant 29
Thin upper lip vermilion, Wide nose, Dental crowding, Cryptorchidism, Narrow palate, High palate,... OMIM:616078
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 3
Absence of Stensen duct, Selective tooth agenesis, Decreased response to growth hormone stimulati... OMIM:604292
Mcdonough Syndrome
Mandibular prognathia, Micrognathia, Open bite, Hypertelorism, Dental malocclusion, Short philtru... ORPHA:2471
Chromosome 22Q11.2 Duplication Syndrome
Depressed nasal ridge, Velopharyngeal insufficiency, High palate OMIM:608363
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type
Osteopenia, Beaded ribs, Multiple prenatal fractures, Micrognathia, Short neck, Flexion contractu... OMIM:616897
Contractures, Pterygia, And Spondylocarpotarsal Fusion Syndrome 1B
Fused thoracic vertebrae, Tarsal synostosis, Short neck, Flexion contracture, Absent phalangeal c... OMIM:618469
Hypospadias-Intellectual Disability, Goldblatt Type Syndrome
Low-set, posteriorly rotated ears, Hypospadias, Trigonocephaly, Joint stiffness, Synophrys, Clino... ORPHA:2261
Sifrim-Hitz-Weiss Syndrome
Renal insufficiency, Epicanthus, Wormian bones, Hearing impairment, Tapered finger, Hypertelorism... OMIM:617159
Koolen-De Vries Syndrome
Ureteral duplication, High, narrow palate, Protruding ear, Vertebral segmentation defect, Vesicou... ORPHA:96169
Seckel Syndrome 1
Dental crowding, Selective tooth agenesis, Abnormal finger flexion crease, Prominent nose, Microg... OMIM:210600
Dandy-Walker Syndrome
Dilated fourth ventricle, Agenesis of cerebellar vermis, Posterior fossa cyst at the fourth ventr... OMIM:220200
Tongue, Pigmented Fungiform Papillae Of
Abnormality of the tongue OMIM:275250
Fetal Encasement Syndrome
Bilateral trilobed lung, Congenital diaphragmatic hernia, Upper limb undergrowth, Horseshoe kidne... OMIM:613630
Raine Syndrome
Mandibular prognathia, Micromelia, Micrognathia, Short neck, Protruding ear, Choanal stenosis, Hi... OMIM:259775
Satb2-Associated Syndrome Due To A Chromosomal Rearrangement
Osteopenia, Flat occiput, Dental crowding, Micrognathia, Generalized joint laxity, Tibial bowing,... ORPHA:251028
Robinow Syndrome, Autosomal Dominant 3
Hypoplastic right heart, Short neck, Micrognathia, Webbed neck, Anteriorly placed anus, Downturne... OMIM:616894
Momo Syndrome
Short neck, Brachycephaly, Femoral bowing, Eyelid coloboma, High palate, Abnormal bone ossificati... ORPHA:2563
Dysostosis, Stanescu Type
Persistent open anterior fontanelle, Micromelia, Short neck, Hypoplasia of the maxilla, Increased... ORPHA:1798
Helsmoortel-Van Der Aa Syndrome
Decreased response to growth hormone stimulation test, High, narrow palate, Ectropion of lower ey... OMIM:615873
Amelogenesis Imperfecta, Hypomaturation Type, Iia1
Carious teeth, Enamel hypomineralization, Anterior open-bite malocclusion, Yellow-brown discolora... OMIM:204700
Chime Syndrome
Short philtrum, Short palm, Microdontia, Sparse hair, Abnormal dental morphology, Abnormality of ... ORPHA:3474
Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum
Osteopenia, Arthropathy, Bicuspid aortic valve, Premature thelarche, Abnormal hand morphology, Su... ORPHA:371428
Desbuquois Dysplasia 2
Dental crowding, Short neck, Metaphyseal widening, Synophrys, Pectus carinatum, Knee dislocation,... OMIM:615777
Coffin-Siris Syndrome 11
Depressed nasal bridge, Cleft soft palate, Esophageal atresia, Bulbous nose, Downturned corners o... OMIM:618779
Perching Syndrome
Respiratory distress, Depressed nasal bridge, High palate, Scoliosis, Camptodactyly, Joint contra... OMIM:617055
Parana Hard Skin Syndrome
Short stature, Tapered finger, Growth delay, Hyperkeratosis, Restricted chest movement ORPHA:2812
Distal Deletion 10Q
Micrognathia, 2-3 toe cutaneous syndactyly, Functional abnormality of the bladder, Short metatars... ORPHA:96148
Kaufman Oculocerebrofacial Syndrome
Congenital hip dislocation, Micrognathia, High palate, Sparse hair, Atrial septal defect, Clinoda... OMIM:244450
Lethal Congenital Contracture Syndrome 11
Bilateral talipes equinovarus, Pulmonary hypoplasia, Camptodactyly, Intrauterine growth retardati... OMIM:617194
Carpenter Syndrome 1
External genital hypoplasia, Duplication of the proximal phalanx of the hallux, Micrognathia, Hyp... OMIM:201000
Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, And Genital Anomalies
Osteopenia, Epiphyseal dysplasia, Metaphyseal dysplasia, Craniosynostosis, Postnatal growth retar... OMIM:614732
Osteoglosphonic Dysplasia
Craniosynostosis, Micrognathia, Hypertelorism, Tooth agenesis, Multiple unerupted teeth, Abnormal... ORPHA:2645
Yunis-Varon Syndrome
Redundant neck skin, Congenital hip dislocation, Anterior concavity of thoracic vertebrae, Flat o... OMIM:216340
Dystonia-Deafness Syndrome 1
Hypoplastic scapulae, Femoral retroversion, Cleft upper lip, Kyphoscoliosis, Sensorineural hearin... OMIM:607371
Periventricular Nodular Heterotopia
Aortic regurgitation, Abnormal heart valve morphology, Pyloric stenosis, Patent ductus arteriosus... ORPHA:98892
Cerebrocostomandibular Syndrome
Anal stenosis, Cleft soft palate, Carious teeth, Cleft lip, Pierre-Robin sequence, Cleft palate, ... OMIM:117650
Otospondylomegaepiphyseal Dysplasia, Autosomal Recessive
Enlarged joints, Micrognathia, Flexion contracture, Prominent interphalangeal joints, Aplasia/Hyp... OMIM:215150
Van Der Woude Syndrome 1
Cleft upper lip, Lower lip pit, Cleft palate, Hypodontia, Bifid uvula OMIM:119300
Cleft Lip/Palate
Agenesis of lateral incisor, Bilateral cleft palate, Hypoplasia of the maxilla, Velopharyngeal in... ORPHA:199306
Cleidocranial Dysplasia, Recessive Form
Severe short stature, Brachycephaly OMIM:216330
Monosomy 5P
Microretrognathia, Finger syndactyly, Short stature, Recurrent fractures, Microcephaly, Hypertelo... ORPHA:281
Lowry-Maclean Syndrome
Osteopenia, Micrognathia, Hypoplasia of the maxilla, High, narrow palate, Downturned corners of m... ORPHA:2409
Tetralogy Of Fallot
Thin vermilion border, Proptosis, Dolichocephaly ORPHA:3303
Chung-Jansen Syndrome
Epicanthus, Thick eyebrow, Anteverted nares, Tapered finger, Micrognathia, Cryptorchidism, Synoph... OMIM:617991
Treacher Collins Syndrome 4
Micrognathia, Lower eyelid coloboma, Cleft palate, Preauricular hair displacement, Conductive hea... OMIM:618939
Intellectual Developmental Disorder, X-Linked 58
Dental malocclusion, Short philtrum OMIM:300210
Ackerman Syndrome
Taurodontia, Broad philtrum OMIM:200970
Richieri-Costa/Guion-Almeida Syndrome
Mandibular prognathia, Hearing impairment, Cleft upper lip, Pectus excavatum, Brachycephaly, Clef... OMIM:268850
Megalencephaly-Severe Kyphoscoliosis-Overgrowth Syndrome
Mandibular prognathia, High palate, Shallow orbits, Micropenis, Joint laxity, Low-set, posteriorl... ORPHA:457359
Aortic Arch Anomaly-Facial Dysmorphism-Intellectual Disability Syndrome
Low-set, posteriorly rotated ears, Mandibular prognathia, Overriding aorta, Carious teeth, Abnorm... ORPHA:1110
Pyle Disease
Delayed eruption of teeth, Metaphyseal dysplasia, Mandibular prognathia, Persistence of primary t... OMIM:265900
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies
Mandibular prognathia, Hyperextensibility of the finger joints, Dental crowding, Decreased respon... OMIM:619503
Fibrodysplasia Ossificans Progressiva
Hallux valgus, Small cervical vertebral bodies, Progressive cervical vertebral spine fusion, Ecto... OMIM:135100
Cerebrocostomandibular Syndrome
Glossoptosis, Short hard palate, Cleft palate ORPHA:1393
Carpenter Syndrome
Syndactyly, Finger syndactyly, Toe syndactyly, Cloverleaf skull, Turricephaly, Craniosynostosis, ... ORPHA:65759
Gorlin Syndrome
Mandibular prognathia, Vertebral fusion, Epicanthus, Telecanthus, Arachnodactyly, Hypertelorism, ... ORPHA:377
Short-Rib Thoracic Dysplasia 9 With Or Without Polydactyly