Not currently registered for phenotyping at IMPC

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

Gene Summary

Name:
prickle planar cell polarity protein 1
Synonyms:
1110058P22Rik,  mpk1,  b2b019Clo

IMPC Data Collections

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

IMPC Phenotype Summary

Significant
Not Significant
Not tested

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 Prickle1 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 Prickle1 by orthology or direct annotation.

Disease Similarity of
phenotypes
Matching phenotypes Source
Epilepsy, Progressive Myoclonic, 1B
Atonic seizure, Generalized myoclonic seizure OMIM:612437
Progressive Myoclonic Epilepsy Type 1
Myoclonus, Morning myoclonic jerks ORPHA:308

The table below shows human diseases predicted to be associated to Prickle1 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Mental Retardation, Autosomal Dominant 3
Seizure OMIM:612580
Mental Retardation, Autosomal Dominant 41
Seizure OMIM:616944
Glycosylphosphatidylinositol Biosynthesis Defect 16
Seizure OMIM:617816
Intellectual Developmental Disorder, X-Linked 96
Seizure OMIM:300802
Autism, Susceptibility To, X-Linked 6
Seizure OMIM:300872
Mental Retardation, X-Linked 88
Seizure OMIM:300852
15q13.3 microdeletion syndrome
Seizure DECIPHER:74
Epilepsy, Nocturnal Frontal Lobe, 3
Seizure OMIM:605375
Mental Retardation, Autosomal Recessive 52
Seizure OMIM:616887
Encephalitis/Encephalopathy, Mild, With Reversible Myelin Vacuolization
Seizure OMIM:618113
Kifafa Seizure Disorder
Seizure OMIM:245180
Mental Retardation, Autosomal Dominant 2
Seizure OMIM:614113
Mental Retardation, Autosomal Recessive 10
Seizure OMIM:611096
Multiple Epiphyseal Dysplasia, Lowry Type
Scoliosis, Genu valgum, Hypertelorism, Elbow dislocation, Rhizomelia, Upslanted palpebral fissure... ORPHA:166016
Genitopalatocardiac Syndrome
Ventricular septal defect, Right aortic arch, Double outlet right ventricle, Cleft upper lip, Cle... OMIM:231060
17Q21.31 Microduplication Syndrome
Short philtrum, Toe syndactyly, Short nose, Micrognathia, Epicanthus, Abnormality of the dentitio... ORPHA:217340
Brachydactyly, Type C
Triangular shaped middle phalanx of the 3rd finger, Triangular shaped proximal phalanx of the 2nd... OMIM:113100
Pontocerebellar Hypoplasia, Type 12
Hypoplasia of the brainstem, Cerebellar hypoplasia, Microcephaly, Cerebral hypoplasia, Micrognathia OMIM:618266
Orofaciodigital Syndrome I
Enamel hypoplasia, Carious teeth, Underdeveloped nasal alae, Tongue nodules, Polydactyly, Lobulat... OMIM:311200
Pierre Robin Syndrome
Pierre-Robin sequence, Cor pulmonale, Glossoptosis, Cleft palate, Micrognathia OMIM:261800
Mental Retardation, X-Linked 91
Cubitus valgus, Short nose, Epicanthus, Clinodactyly, Small hand, Short foot, High palate, Short ... OMIM:300577
Tetrasomy X
Hip dysplasia, Hypertelorism, Radioulnar synostosis, Upslanted palpebral fissure, Epicanthus, Abn... ORPHA:9
Fallot Complex With Severe Mental And Growth Retardation
Pulmonic stenosis, Tetralogy of Fallot, Double outlet right ventricle, Ventricular septal defect OMIM:601127
Cleft Palate-Short Stature-Vertebral Anomalies Syndrome
Short nose, Abnormal vertebral morphology, Micrognathia, Epicanthus, Thin upper lip vermilion, Cl... ORPHA:2015
Autosomal Recessive Robinow Syndrome
Open bite, Broad thumb, Downturned corners of mouth, Elbow dislocation, Split hand, Broad hallux ... ORPHA:1507
14Q11.2 Microdeletion Syndrome
Highly arched eyebrow, Long philtrum, Hypertelorism, Short nose, Blepharophimosis, Toe syndactyly... ORPHA:261120
Intellectual Developmental Disorder With Hypertelorism And Distinctive Facies
Long philtrum, Hypertelorism, Thick nasal alae, Wide nasal bridge, Long palpebral fissure, Narrow... OMIM:618147
Metaphyseal Acroscyphodysplasia
Scoliosis, Short toe, Abnormality of femur morphology, Hypertelorism, Bowing of the long bones, E... ORPHA:1240
Mohr Syndrome
Accessory oral frenulum, Metaphyseal irregularity, Tongue nodules, Lobulated tongue, High palate,... OMIM:252100
Spondyloepimetaphyseal Dysplasia With Abnormal Dentition
Platyspondyly, Genu valgum, Oligodontia, Metaphyseal irregularity, Narrow iliac wing, Irregular v... OMIM:601668
Pierre Robin Syndrome And Oligodactyly
Pierre-Robin sequence, Micrognathia, Hand oligodactyly, Cleft palate OMIM:172880
Robinow Syndrome, Autosomal Dominant 3
Broad thumb, Short phalanx of finger, Downturned corners of mouth, Hypoplastic right heart, Campt... OMIM:616894
Intellectual Developmental Disorder, Autosomal Dominant 44, With Microcephaly
Short nose, Dental crowding, Micrognathia, Upslanted palpebral fissure, Kyphosis, 2-3 toe syndact... OMIM:617061
Acromicric Dysplasia
Long philtrum, Abnormal eyebrow morphology, Abnormality of femur morphology, Short nose, Bulbous ... ORPHA:969
Hydrocephalus, Sprengel Anomaly, And Costovertebral Dysplasia
Enamel hypoplasia, Hypertelorism, Bulbous nose, Mandibular prognathia, Epicanthus, Wide nasal bri... OMIM:600991
Membranous Cranial Ossification, Delayed
Downslanted palpebral fissures, Hypertelorism, Depressed nasal bridge OMIM:155980
X-Linked Intellectual Disability, Stoll Type
Long philtrum, Hypertelorism, Malar flattening, Hypoplastic nasal bridge, Broad nasal tip, Clinod... ORPHA:85326
Acrocephalopolydactyly
Abnormality of the mouth, Hypertelorism, Short nose, Epicanthus, Limb undergrowth, Short long bon... ORPHA:221054
Spondylometaphyseal Dysplasia, East African Type
Metaphyseal widening, Ovoid vertebral bodies, Short long bone, Coxa vara, Genu varum, Rounded epi... OMIM:611702
Carpenter Syndrome 1
Lambdoidal craniosynostosis, Flared iliac wing, Hydroureter, Camptodactyly, Patent ductus arterio... OMIM:201000
Anauxetic Dysplasia 1
Platyspondyly, Hypertelorism, Delayed ossification of carpal bones, Hypoplastic ilia, Short finge... OMIM:607095
Robinow Syndrome
Dental crowding, Short distal phalanx of finger, Oral cleft, Triangular mouth, Micrognathia, Webb... ORPHA:97360
Chromosome 15Q13.3 Deletion Syndrome
Hypertelorism, Synophrys, Abnormality of the palpebral fissures, Clinodactyly of the 5th finger, ... OMIM:612001
Maxillonasal Dysplasia, Binder Type
Short nose, Short columella, Short distal phalanx of finger, Depressed nasal bridge, Dental maloc... OMIM:155050
Robinow Syndrome, Autosomal Recessive 1
Hypoplastic sacrum, Bifid distal phalanx of toe, Broad thumb, Dental crowding, Triangular mouth, ... OMIM:268310
Hall-Riggs Mental Retardation Syndrome
Scoliosis, Platyspondyly, Enamel hypoplasia, Hypertelorism, Thick lower lip vermilion, Hypoplasia... OMIM:234250
Orofaciodigital Syndrome Type 5
Enamel hypoplasia, Postaxial polysyndactyly of foot, Crossed fused renal ectopia, Abnormality of ... ORPHA:2919
Trisomy 8Q
Camptodactyly of finger, Deep palmar crease, Myelomeningocele, Low-set, posteriorly rotated ears,... ORPHA:1752
Fetal Trimethadione Syndrome
Atrial septal defect, Short nose, Overfolded helix, Ventricular septal defect, High palate, Epica... ORPHA:1913
Alar Cartilages Hypoplasia-Coloboma-Telecanthus Syndrome
Convex nasal ridge, Hypertelorism, Underdeveloped nasal alae, Cleft ala nasi, Non-midline cleft l... ORPHA:2007
Rhizomelic Dysplasia, Patterson-Lowry Type
Hyperlordosis, Genu valgum, Deformed humeral heads, Short nose, Abnormal form of the vertebral bo... ORPHA:2831
Velo-Facial-Skeletal Syndrome
Abnormal thumb morphology, Hypertelorism, High, narrow palate, Epicanthus, Abnormality of the den... ORPHA:3424
Dpagt1-Cdg
Microcephaly, Micrognathia ORPHA:86309
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 2
Hypertelorism, Short nose, Epicanthus, Pneumonia, High palate, Retrognathia, Anteverted nares, Ch... OMIM:614069
Craniofacial-Deafness-Hand Syndrome
Lacrimal duct atresia, Camptodactyly of finger, Hypertelorism, Short nose, Blepharophimosis, Narr... ORPHA:1529
Larsen-Like Osseous Dysplasia-Short Stature Syndrome
Scoliosis, Hip dysplasia, Thin vermilion border, Short nose, Narrow mouth, Abnormal form of the v... ORPHA:2370
Smith-Lemli-Opitz Syndrome
Abnormal dental enamel morphology, Split hand, Choanal atresia, Patent ductus arteriosus, Abnorma... ORPHA:818
Familial Intestinal Malrotation
Hypertelorism, Long palpebral fissure, Anteverted nares, Depressed nasal bridge ORPHA:508410
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation
Open bite, Craniosynostosis, Joint laxity, Underdeveloped nasal alae, Lambdoidal craniosynostosis... ORPHA:453504
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion
Open bite, Craniosynostosis, Joint laxity, Underdeveloped nasal alae, Lambdoidal craniosynostosis... ORPHA:352665
Peroxisome Biogenesis Disorder 10A (Zellweger)
Epiphyseal stippling, Hypertelorism, Epicanthus, Downslanted palpebral fissures, High palate, Mic... OMIM:614882
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly
Natal tooth, Patent ductus arteriosus, Postaxial polydactyly, Horizontal ribs, Flat acetabular ro... OMIM:616300
Orofacial Cleft 11
Cleft lip, Cleft palate OMIM:600625
Robinow Syndrome, Autosomal Dominant 1
Bifid distal phalanx of toe, Broad thumb, Narrow palate, Downturned corners of mouth, Dental crow... OMIM:180700
Autosomal Dominant Robinow Syndrome
Open bite, Oligodontia, Downturned corners of mouth, Elbow dislocation, Euryblepharon, Curly eyel... ORPHA:3107
Ectrodactyly Of Lower Limbs, Congenital Heart Defect, And Micrognathia
Tetralogy of Fallot, Micrognathia, Hypoplastic right heart, Ventricular septal defect OMIM:601348
Brachydactyly, Type A1
Aplasia/Hypoplasia of the middle phalanges of the hand, Broad metacarpal epiphyses, Short proxima... OMIM:112500
Brachydactyly, Type A3
Rhomboid or triangular shaped 5th finger middle phalanx, Type A brachydactyly, Cone-shaped epiphy... OMIM:112700
Clark-Baraitser Syndrome
Long philtrum, Hypertelorism, Short nose, Downturned corners of mouth, Upslanted palpebral fissur... OMIM:617752
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
Distal Monosomy 15Q
Patent ductus arteriosus, Short distal phalanx of finger, Congenital diaphragmatic hernia, Microg... ORPHA:1596
Robinow Syndrome, Autosomal Dominant 2
Broad thumb, Dental crowding, Short distal phalanx of finger, Partial duplication of the phalanx ... OMIM:616331
Catel-Manzke Syndrome
Highly arched eyebrow, Camptodactyly of finger, Atrial septal defect, Abnormality of epiphysis mo... ORPHA:1388
Short Rib-Polydactyly Syndrome
Abnormal ilium morphology, Nephronophthisis, Abnormality of long bone morphology, Polydactyly, In... ORPHA:1505
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly
Intestinal malrotation, Postaxial polydactyly, Hamartoma of tongue, Horizontal ribs, Short digit,... OMIM:613091
Burn-Mckeown Syndrome
Hypertelorism, Short nose, Abnormal palate morphology, Bilateral choanal atresia, Wide nasal brid... ORPHA:1200
Orofaciodigital Syndrome Xviii
Genu valgum, Short philtrum, Short middle phalanx of finger, Upslanted palpebral fissure, Preaxia... OMIM:617927
Ventricular Septal Defect 2
Perimembranous ventricular septal defect OMIM:614431
Spondylometaphyseal Dysplasia With Corneal Dystrophy
Squared iliac bones, Lumbar platyspondyly, Hypertelorism, Short nose, Beaking of vertebral bodies... OMIM:618961
Weiss-Kruszka Syndrome
Overfolded helix, Downslanted palpebral fissures, Exaggerated cupid's bow, Broad philtrum, Dextro... OMIM:618619
Dislocation Of The Hip-Dysmorphism Syndrome
Prominence of the premaxilla, Congenital hip dislocation, Narrow mouth, Abnormal tricuspid valve ... ORPHA:2412
Symphalangism With Multiple Anomalies Of Hands And Feet
Abnormality of the distal phalanges of the toes, Small hypothenar eminence, Small thenar eminence... ORPHA:3246
Orofaciodigital Syndrome Type 2
Y-shaped metacarpals, Hypoplasia of teeth, Tongue nodules, Broad first metatarsal, Natal tooth, H... ORPHA:2751
17P13.3 Microduplication Syndrome
Hypertelorism, Short nose, Congenital hip dislocation, Narrow mouth, Clinodactyly of the 5th fing... ORPHA:217385
8P23.1 Microdeletion Syndrome
Thin vermilion border, Broad thumb, Broad hallux phalanx, Patent ductus arteriosus, Pulmonary art... ORPHA:251071
Phenobarbital Embryopathy
Aplasia/Hypoplasia of fingers, Hypertelorism, Mandibular prognathia, Epicanthus, Malar flattening... ORPHA:1919
Potocki-Shaffer Syndrome
Short philtrum, Short nose, Underdeveloped nasal alae, Downturned corners of mouth, Epicanthus, S... OMIM:601224
Congenital Heart Defects, Multiple Types, 5
Atrial septal defect, Ventricular septal defect, Aortic valve stenosis, Double outlet right ventr... OMIM:617912
Brachydactyly-Preaxial Hallux Varus Syndrome
Radial club hand, Preaxial hand polydactyly, Short metatarsal, Broad thumb, Abnormal palate morph... ORPHA:1278
Bainbridge-Ropers Syndrome
Scoliosis, Highly arched eyebrow, Hypertelorism, Short nose, Dental crowding, Upslanted palpebral... OMIM:615485
Ectodermal Dysplasia 13, Hair/Tooth Type
Oligodontia, Hypertelorism, Sparse eyelashes, Thick vermilion border, Wide nasal bridge, Thin eye... OMIM:617392
Acromicric Dysplasia
Long philtrum, Short phalanx of finger, Bulbous nose, Narrow mouth, Ovoid vertebral bodies, Deep ... OMIM:102370
Neurodevelopmental Disorder With Dysmorphic Facies And Distal Limb Anomalies
Hypertelorism, Narrow mouth, Overlapping toe, Micrognathia, Upslanted palpebral fissure, Epicanth... OMIM:617755
Maxillonasal Dysplasia
Scoliosis, Open bite, Short nose, Hypoplasia of the maxilla, Short columella, Mandibular prognath... ORPHA:1248
Atkin-Flaitz Syndrome
Scoliosis, Genu valgum, Prominent median palatal raphe, Hypertelorism, Broad palm, Kyphosis, Maxi... OMIM:300431
Charlie M Syndrome
Short philtrum, Thin vermilion border, Hypertelorism, Narrow mouth, Finger syndactyly, Micrognath... ORPHA:1406
Cayler Cardiofacial Syndrome
Tetralogy of Fallot, Patent ductus arteriosus, Ventricular septal defect OMIM:125520
White Matter Hypoplasia-Corpus Callosum Agenesis-Intellectual Disability Syndrome
Hypertelorism, Micrognathia, Synophrys, Wide nasal bridge, Downslanted palpebral fissures, Adduct... ORPHA:3207
Marshall-Smith Syndrome
Prominence of the premaxilla, Choanal stenosis, Overfolded helix, Choanal atresia, Patent ductus ... OMIM:602535
Chromosome 16P13.3 Duplication Syndrome
Short nose, Bulbous nose, Short phalanx of finger, Upslanted palpebral fissure, Camptodactyly, Ma... OMIM:613458
Mmep Syndrome
Ventricular septal defect, Mandibular prognathia, Oral cleft, Microcephaly, Median cleft lip ORPHA:3434
Axial Spondylometaphyseal Dysplasia
Platyspondyly, Proximal femoral metaphyseal irregularity, Hypertelorism, Short nose, Rhizomelia, ... ORPHA:168549
Whistling Face Syndrome, Recessive Form
Narrow mouth, Underdeveloped nasal alae, Camptodactyly, High palate, Micrognathia, Short neck, El... OMIM:277720
Microcephaly 4, Primary, Autosomal Recessive
Thick eyebrow, Micrognathia, Hypertelorism, Synophrys OMIM:604321
Cleidorhizomelic Syndrome
Rhizomelia, Bilateral single transverse palmar creases, Short middle phalanx of the 5th finger, C... ORPHA:1453
Sugarman Brachydactyly
Short proximal phalanx of finger, Double first metacarpals, Symphalangism affecting the proximal ... OMIM:272150
Velofacioskeletal Syndrome
Hypertelorism, Narrow palate, Broad palm, High, narrow palate, Epicanthus, Wide nasal bridge, Sho... OMIM:600736
Familial Digital Arthropathy-Brachydactyly
Osteoarthritis of the small joints of the hand, Short middle phalanx of finger, Shortening of all... ORPHA:85169
Brachydactyly, Type A1, C
Short middle phalanx of the 2nd finger, Bilateral talipes equinovarus, Short distal phalanx of fi... OMIM:615072
Rafiq Syndrome
Short philtrum, Hypertelorism, Smooth philtrum, Wide nasal bridge, Broad eyebrow, Thin upper lip ... OMIM:614202
Hypochondroplasia
Limited elbow extension, Malar flattening, Lumbar hyperlordosis, Short long bone, Flared metaphys... OMIM:146000
Non-Distal Trisomy 10Q
Scoliosis, Convex nasal ridge, Hypertelorism, Short nose, Blepharophimosis, Everted lower lip ver... ORPHA:1695
Acromesomelic Dysplasia, Maroteaux Type
Scoliosis, Hyperlordosis, Abnormal form of the vertebral bodies, Beaking of vertebral bodies, Kyp... ORPHA:40
Frontorhiny
Camptodactyly of finger, Midline nasal groove, Aplasia/Hypoplasia of the corpus callosum, Finger ... ORPHA:391474
22Q11.2 Duplication Syndrome
Interrupted aortic arch, Ventricular septal defect, Epicanthus, Smooth philtrum, Urethral stenosi... ORPHA:1727
Cleft Palate, Isolated
Anterior open-bite malocclusion, Increased overbite, Gingival overgrowth, Cleft palate, Micrognathia OMIM:119540
Metaphyseal Acroscyphodysplasia
Scoliosis, Irregular phalanges, Short phalanx of finger, Cone-shaped epiphyses of the phalanges o... OMIM:250215
Acrodysostosis
Open bite, Epiphyseal stippling, Short metatarsal, Open mouth, Mandibular prognathia, Abnormality... ORPHA:950
Temtamy Preaxial Brachydactyly Syndrome
Highly arched eyebrow, Talon cusp, Short metatarsal, Hypertelorism, Tarsal synostosis, Radioulnar... OMIM:605282
Multiple Metaphyseal Dysplasia
Hyperlordosis, Broad distal phalanx of finger, Abnormality of tibia morphology, Abnormality of ep... ORPHA:93430
Ring Chromosome 8 Syndrome
Short nose, Abnormal palate morphology, Epicanthus, Anteverted nares, Deviation of finger ORPHA:1450
Microphthalmia With Limb Anomalies
Hypoplasia of the premaxilla, Thin vermilion border, Tarsal synostosis, Broad thumb, Elbow disloc... ORPHA:1106
Steel Syndrome
Scoliosis, Dislocated radial head, Hypertelorism, Wide nasal bridge OMIM:615155
Orofacial Cleft 13
Oligodontia, Cleft soft palate, Retrognathia, Micrognathia, Malar flattening OMIM:613857
Epiphyseal Dysplasia-Hearing Loss-Dysmorphism Syndrome
Scoliosis, Long philtrum, Hypertelorism, Abnormal thumb morphology, Finger syndactyly, Deep philt... ORPHA:1825
Diabetic Embryopathy
Aplasia/Hypoplasia of the corpus callosum, Ventricular septal defect, Aplasia/Hypoplasia of the a... ORPHA:1926
Cardiac Septal Defects With Coarctation Of The Aorta
Secundum atrial septal defect, Perimembranous ventricular septal defect, Coarctation of aorta OMIM:212090
Pycnodysostosis
Scoliosis, Osteolytic defects of the distal phalanges of the hand, Carious teeth, Delayed eruptio... OMIM:265800
Terminal Osseous Dysplasia
Mesomelic arm shortening, Camptodactyly of finger, Depressed nasal tip, Hypertelorism, Abnormal h... OMIM:300244
Digital Arthropathy-Brachydactyly, Familial
Short middle phalanx of finger, Short distal phalanx of toe, Short distal phalanx of finger, Radi... OMIM:606835
Pierpont Syndrome
Scoliosis, Thin vermilion border, Unilateral narrow palpebral fissure, Narrow palpebral fissure, ... OMIM:602342
Chromosome 6Q11-Q14 Deletion Syndrome
Long philtrum, Hypertelorism, Short nose, Hypotelorism, Upslanted palpebral fissure, Epicanthus, ... OMIM:613544
Frank-Ter Haar Syndrome
Scoliosis, Camptodactyly of finger, Delayed eruption of teeth, Short philtrum, Hypertelorism, Bea... ORPHA:137834
Temtamy Preaxial Brachydactyly Syndrome
Oligodontia, Tarsal synostosis, Narrow mouth, Partial duplication of the proximal phalanx of the ... ORPHA:363417
Polydactyly, Postaxial, With Dental And Vertebral Anomalies
Enamel hypoplasia, Tarsal synostosis, Mandibular prognathia, Hemivertebrae, Hypoplastic vertebral... OMIM:263540
Multiple Epiphyseal Dysplasia With Robin Phenotype
Scoliosis, Metatarsus adductus, Prominent proximal interphalangeal joints, Short femoral neck, Mi... OMIM:601560
Otopalatodigital Syndrome Type 1
Short hallux, Oligodontia, Abnormality of the tarsal bones, Hypertelorism, Synostosis of carpal b... ORPHA:90650
Simpson-Golabi-Behmel Syndrome, Type 2
Congenital hip dislocation, Pneumonia, High palate, Short neck, Wide nose, Recurrent upper respir... OMIM:300209
Holzgreve Syndrome
Hand polydactyly, Aplasia/Hypoplasia of the corpus callosum, Macrotia, Low-set, posteriorly rotat... ORPHA:2167
Hall-Riggs Syndrome
Scoliosis, Platyspondyly, Abnormal dental enamel morphology, Delayed eruption of teeth, Hypertelo... ORPHA:2107
Cleft Lip/Palate-Intestinal Malrotation-Cardiopathy Syndrome
Broad thumb, Micrognathia, Upslanted palpebral fissure, Abnormal aortic morphology, Intestinal ma... ORPHA:2001
Clark-Baraitser syndrome
Scoliosis, Genu valgum, Prominent median palatal raphe, Broad palm, Kyphosis, Maxillary lateral i... OMIM:300602
Frontonasal Dysplasia 1
Pectoral muscle hypoplasia/aplasia, Postaxial hand polydactyly, Hypertelorism, Hypoplasia of the ... OMIM:136760
Syngnathia
Cleft palate OMIM:119550
Chime Syndrome
Cerebral cortical atrophy, Transposition of the great arteries, Aplastic clavicle, Abnormality of... ORPHA:3474
Periodontal Ehlers-Danlos Syndrome
Agenesis of permanent teeth, Periodontitis, Atrophy of alveolar ridges, Premature loss of primary... ORPHA:75392
Pfeiffer Syndrome
Hyperlordosis, Hip dysplasia, Short philtrum, Hypertelorism, Broad thumb, Open mouth, Synostosis ... ORPHA:710
Thiemann Disease, Familial Form
Abnormality of the metaphysis, Brachydactyly, Abnormality of epiphysis morphology ORPHA:3314
Ververi-Brady Syndrome
Bulbous nose, Metaphyseal irregularity, Macrotia, High palate, Everted lower lip vermilion, Upsla... OMIM:617982
Fibromatosis, Gingival, With Distinctive Facies
Hypertelorism, Gingival fibromatosis, Underdeveloped nasal alae, Everted lower lip vermilion, Thi... OMIM:228560
Isolated Pierre Robin Syndrome
Micrognathia, Glossoptosis, Cleft palate ORPHA:718
Gingival Fibromatosis-Facial Dysmorphism Syndrome
Delayed eruption of teeth, Hypertelorism, Gingival fibromatosis, Underdeveloped nasal alae, Abnor... ORPHA:2025
Cornelia De Lange Syndrome 4 With Or Without Midline Brain Defects
Highly arched eyebrow, Long philtrum, Smooth philtrum, Synophrys, Hemivertebrae, Wide nasal bridg... OMIM:614701
Cleft Palate-Lateral Synechia Syndrome
Narrow mouth, Everted lower lip vermilion, Oral synechia, Cleft palate, Micrognathia ORPHA:2016
Orofaciodigital Syndrome Xiv
Natal tooth, Hamartoma of tongue, Postaxial polydactyly, Patent ductus arteriosus, Aplasia of the... OMIM:615948
Pseudoachondroplasia
Scoliosis, Irregular carpal bones, Short phalanx of finger, Metaphyseal irregularity, Flat acetab... ORPHA:750
Macrocephaly-Spastic Paraplegia-Dysmorphism Syndrome
Scoliosis, Short philtrum, Short nose, Kyphosis, Deeply set eye, Mandibular prognathia, Everted l... ORPHA:2429
Robinow Syndrome, Autosomal Recessive 2
Long philtrum, Absent uvula, Hypertelorism, Short nose, Broad thumb, Micrognathia, Camptodactyly,... OMIM:618529
Epilepsy, Nocturnal Frontal Lobe, 1
Seizure, Focal-onset seizure OMIM:600513
Facial Dysmorphism, Hypertrichosis, Epilepsy, Intellectual/Developmental Delay, And Gingival Overgrowth Syndrome
Hip dysplasia, Short philtrum, Horizontal eyebrow, Micrognathia, Deeply set eye, Deep philtrum, L... OMIM:618381
Chondrodysplasia With Joint Dislocations, Gpapp Type
Genu valgum, Short nose, Narrow mouth, Proptosis, Wide nasal bridge, Short foot, Short metacarpal... OMIM:614078
Orofaciodigital Syndrome Type 14
Bulbous nose, Hamartoma of tongue, Patent ductus arteriosus, Aplasia of the epiglottis, Lobulated... ORPHA:434179
Chromosome 16P12.2-P11.2 Deletion Syndrome, 7.1- To 8.7-Mb
Short nose, Bulbous nose, Open mouth, Deeply set eye, Narrow palpebral fissure, Epicanthus, Campt... OMIM:613604
Microbrachycephaly-Ptosis-Cleft Lip Syndrome
Scoliosis, Hyperlordosis, Large iliac wing, Abnormal thumb morphology, Abnormality of finger, Man... ORPHA:2511
Chung-Jansen Syndrome
Long philtrum, Thin vermilion border, Short philtrum, Hypertelorism, Short nose, Upslanted palpeb... OMIM:617991
Oculomaxillofacial Dysostosis
Camptodactyly of finger, Abnormal eyelid morphology, Underdeveloped nasal alae, Micrognathia, Ups... ORPHA:1794
Craniodigital-Intellectual Disability Syndrome
Short nose, Finger syndactyly, Long eyelashes, Thick eyebrow, Spina bifida occulta, Micrognathia,... ORPHA:1514
Atrial Septal Defect 2
Atrioventricular canal defect, Atrial septal defect, Ventricular septal defect OMIM:607941
Intellectual Disability-Facial Dysmorphism-Hand Anomalies Syndrome
Short 3rd metacarpal, Short toe, Broad thumb, Short 5th metacarpal, 3-4 finger cutaneous syndacty... ORPHA:370010
Pallister-Hall-Like Syndrome
Hypothalamic hamartoma, Postaxial hand polydactyly, Short nose, Anterior hypopituitarism, Abnorma... OMIM:241800
Camptodactyly Syndrome, Guadalajara Type 1
Open bite, Narrow mouth, Downturned corners of mouth, Mandibular prognathia, Short distal phalanx... ORPHA:1327
Chst3-Related Skeletal Dysplasia
Scoliosis, Highly arched eyebrow, Genu valgum, Long philtrum, Sparse eyebrow, Hypertelorism, Dela... ORPHA:263463
Nemaline Myopathy 9
High palate, Micrognathia, Cleft palate OMIM:615731
Codas Syndrome
Scoliosis, Delayed eruption of teeth, Abnormal dental enamel morphology, Short nose, Coronal clef... ORPHA:1458
Wiedemann-Steiner Syndrome
Short phalanx of finger, Narrow palpebral fissure, Downslanted palpebral fissures, High palate, W... OMIM:605130
Hypertelorism And Other Facial Dysmorphism, Brachydactyly, Genital Abnormalities, Mental Retardation, And Recurrent Inflammatory Episodes
Long philtrum, Hypertelorism, Short phalanx of finger, Upslanted palpebral fissure, Wide mouth, W... OMIM:614684
Multinucleated Neurons, Anhydramnios, Renal Dysplasia, Cerebellar Hypoplasia, And Hydranencephaly
Arthrogryposis multiplex congenita, Bulbous nose, Choanal stenosis, Narrow palpebral fissure, Low... OMIM:236500
Ring Chromosome 6 Syndrome
Hypertelorism, Epicanthus, Short distal phalanx of finger, Wide nasal bridge, Short neck ORPHA:1448
Fatty Acyl-Coa Reductase 1 Deficiency
Highly arched eyebrow, Long philtrum, Hypertelorism, Short nose, Smooth philtrum, Thin upper lip ... ORPHA:438178
Mental Retardation, Buenos Aires Type
Carious teeth, Mandibular prognathia, Downslanted palpebral fissures, High palate, Curly eyelashe... OMIM:249630
Night Blindness-Skeletal Anomalies-Dysmorphism Syndrome
Scoliosis, Carious teeth, Down-sloping shoulders, Abnormality of the nose, Epicanthus, Abnormal p... ORPHA:1390
Cornelia De Lange Syndrome 2
Highly arched eyebrow, Downturned corners of mouth, Micrognathia, Long eyelashes, Synophrys, Brac... OMIM:300590
Spondyloepiphyseal Dysplasia, Nishimura Type
Abnormal femoral neck/head morphology, Downturned corners of mouth, Thoracic kyphosis, Ovoid vert... ORPHA:163649
Spondyloepiphyseal Dysplasia-Brachydactyly-Speech Disorder Syndrome
Curly eyelashes, Short neck, Depressed nasal bridge, Long philtrum, Blepharophimosis, Hypoplastic... ORPHA:163654
Keipert Syndrome
Broad distal phalanx of finger, Hypertelorism, Broad thumb, Downturned corners of mouth, Thick up... OMIM:301026
Craniosynostosis-Hydrocephalus-Arnold-Chiari Malformation Type I-Radioulnar Synostosis Syndrome
Thin vermilion border, Craniosynostosis, Patent ductus arteriosus, Micrognathia, Micropenis, Hydr... ORPHA:171839
Spondyloepiphyseal Dysplasia-Brachydactyly And Distinctive Speech
Short phalanx of finger, Carpal bone hypoplasia, Anterior scalloping of vertebral bodies, Small e... OMIM:611717
Thoc6-Related Developmental Delay-Microcephaly-Facial Dysmorphism Syndrome
Carious teeth, Atrial septal defect, Abnormal heart morphology, Patent ductus arteriosus, Smooth ... ORPHA:363444
Trichorhinophalangeal Syndrome, Type Iii
Scoliosis, Pear-shaped nose, Coxa magna, Long philtrum, Short metatarsal, Short phalanx of finger... OMIM:190351
Hydrocephalus-Costovertebral Dysplasia-Sprengel Anomaly Syndrome
Scoliosis, Abnormal dental enamel morphology, Hypertelorism, Bulbous nose, Abnormal form of the v... ORPHA:2180
Spondylometaphyseal Dysplasia, Type A4
Platyspondyly, Metaphyseal sclerosis, Metaphyseal irregularity, Osteoporotic metatarsal, Ovoid ve... OMIM:609052
Pierre Robin Sequence With Facial And Digital Anomalies
Pierre-Robin sequence, Short distal phalanx of finger, Glossoptosis, Cleft palate, Micrognathia OMIM:311895
Monosomy 5P
Scoliosis, Hypertelorism, Finger syndactyly, Microretrognathia, Epicanthus, Wide nasal bridge, Sm... ORPHA:281
Brachydactyly, Type A1, B
Short middle phalanx of finger, Broad distal hallux, Type A brachydactyly, Short 5th metacarpal, ... OMIM:607004
Brachydactyly-Mesomelia-Intellectual Disability-Heart Defects Syndrome
Convex nasal ridge, Abnormal palate morphology, Mesomelia, Tooth agenesis, Abnormal shoulder morp... ORPHA:1277
Temple-Baraitser Syndrome
Long philtrum, Hypertelorism, Broad thumb, Downturned corners of mouth, Epicanthus, Thick nasal a... OMIM:611816
Impaired Intellectual Development And Distinctive Facial Features With Or Without Cardiac Defects
Macroglossia, Bulbous nose, Open mouth, Macrotia, Everted lower lip vermilion, Upslanted palpebra... OMIM:616789
Cortical Blindness, Retardation, And Postaxial Polydactyly
Microretrognathia, Long philtrum, Short nose OMIM:218010
Noonan Syndrome-Like Disorder With Loose Anagen Hair
Thin vermilion border, Carious teeth, Hypertelorism, Short nose, Thick lower lip vermilion, Abnor... ORPHA:2701
Chromosome 20Q11-Q12 Deletion Syndrome
Short philtrum, Hypertelorism, Finger clinodactyly, Tarsal osteovalgus, Deeply set eye, Camptodac... OMIM:614257
Microcephaly-Capillary Malformation Syndrome
Atrial septal defect, Short nose, Abnormal hair whorl, Ventricular septal defect, Hypoplasia of t... OMIM:614261
Orofaciodigital Syndrome Iii
Postaxial hand polydactyly, Bulbous nose, Tongue nodules, Short sternum, Low-set ears, Bifid tong... OMIM:258850
Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Mental Retardation, And Ear Anomalies Syndrome
Overfolded helix, Camptodactyly, Peripheral pulmonary artery stenosis, Duplicated collecting syst... OMIM:280000
Oculodentodigital Dysplasia, Autosomal Recessive
Thin vermilion border, Abnormal dental enamel morphology, Narrow mouth, Underdeveloped nasal alae... OMIM:257850
Brachydactyly, Type D
Broad distal phalanx of the thumb, Type D brachydactyly, Broad distal phalanx of the hallux OMIM:113200
Pde4D Haploinsufficiency Syndrome
Abnormal dental enamel morphology, Short metatarsal, Short phalanx of finger, Mandibular prognath... ORPHA:439822
Nasodigitoacoustic syndrome
Broad distal phalanx of finger, Short 3rd metacarpal, Hypertelorism, Short phalanx of finger, Bro... OMIM:255980
Leri Pleonosteosis
Scoliosis, Camptodactyly of finger, Cubitus valgus, Broad thumb, Abnormality of finger, Blepharop... ORPHA:2900
Intellectual Disability, Wolff Type
Scoliosis, Camptodactyly of finger, Hypertelorism, Bulbous nose, Broad thumb, Thick lower lip ver... ORPHA:3080
Fraser Syndrome
Underdeveloped nasal alae, Dental crowding, Atresia of the external auditory canal, Oral cleft, M... ORPHA:2052
Microcephaly-Cleft Palate-Abnormal Retinal Pigmentation Syndrome
Mandibular prognathia, Cleft palate, Bifid uvula, Microcephaly, Retrognathia, Micrognathia, Submu... ORPHA:2521
Spondyloepimetaphyseal Dysplasia, Faden-Alkuraya Type
Platyspondyly, Hypertelorism, Short nose, Overlapping toe, Epicanthus, Narrow pelvis bone, Short ... OMIM:616723
Short-Rib Thoracic Dysplasia 18 With Polydactyly
Platyspondyly, Hypertelorism, Micrognathia, Preaxial polydactyly, Epicanthus, Postaxial polydacty... OMIM:617866
Short Stature, Brachydactyly, Impaired Intellectual Development, And Seizures
Long philtrum, Thin vermilion border, Short metatarsal, Deeply set eye, Epicanthus, Short metacar... OMIM:617157
Congenital Heart Defects, Multiple Types, 6
Hypoplastic pulmonary veins, Single ventricle, Ventricular septal defect, Complete atrioventricul... OMIM:613854
Brachydactyly, Type A4
Aplasia of the middle phalanges of the toes, Short middle phalanx of the 2nd finger, Type A brach... OMIM:112800
14Q24.1Q24.3 Microdeletion Syndrome
Dislocated radial head, Long philtrum, Hypertelorism, Short nose, Pulmonary artery atresia, Synop... ORPHA:401935
Otopalatodigital Syndrome, Type I
Scoliosis, Abnormality of the fifth metatarsal bone, Narrow mouth, Sandal gap, Short distal phala... OMIM:311300
Long-Thumb Brachydactyly Syndrome
Short finger, Long thumb, Brachydactyly OMIM:112430
Cranioectodermal Dysplasia
Abnormal dental enamel morphology, Taurodontia, Finger syndactyly, Rhizomelia, Everted lower lip ... ORPHA:1515
Brachytelephalangy-Dysmorphism-Kallmann Syndrome
Genu valgum, Hypertelorism, Short nose, Anosmia, Abnormality of the nares, Synophrys, Abnormality... ORPHA:1295
3Mc Syndrome 2
Joint hypermobility, Prominence of the premaxilla, Craniosynostosis, Downturned corners of mouth,... OMIM:265050
Recombinant Chromosome 8 Syndrome
Downturned corners of mouth, Camptodactyly, Patent ductus arteriosus, Double outlet right ventric... OMIM:179613
Symptomatic Form Of Coffin-Lowry Syndrome In Female Carriers
Scoliosis, Oligodontia, Hypertelorism, Kyphosis, Everted lower lip vermilion, Large hands, Anodon... ORPHA:276630
Cenani-Lenz Syndrome
Scoliosis, Abnormal dental enamel morphology, Elbow dislocation, Abnormality of the metacarpal bo... ORPHA:3258
Desbuquois Dysplasia 1
Scoliosis, Short metatarsal, Narrow mouth, Phalangeal dislocation, Broad first metatarsal, Sandal... OMIM:251450
Achondroplasia
Limited elbow extension, Trident hand, Rhizomelia, Lumbar kyphosis in infancy, Malar flattening, ... OMIM:100800
Burn-Mckeown Syndrome
Thin vermilion border, Narrow mouth, Underdeveloped nasal alae, Hypomimic face, Mandibular progna... OMIM:608572
Mosaic Trisomy 1
Oral cleft, Long toe, Congenital diaphragmatic hernia, Downslanted palpebral fissures, Complete d... ORPHA:1692
Short Stature, Hearing Loss, Retinitis Pigmentosa, And Distinctive Facies
Wide nasal base, Long philtrum, Broad thumb, Upslanted palpebral fissure, Deeply set eye, Thin up... OMIM:617763
Teebi Hypertelorism Syndrome
Highly arched eyebrow, Long philtrum, Hypertelorism, Short nose, Dental crowding, Broad palm, Ups... OMIM:145420
Epiphyseal Dysplasia, Multiple, 4
Scoliosis, Hip dysplasia, Epiphyseal dysplasia, Limited elbow flexion, Short metacarpal, Talipes ... OMIM:226900
Liang-Wang Syndrome
Macroglossia, Hypertelorism, Downturned corners of mouth, Everted lower lip vermilion, Diastema, ... OMIM:618729
Arthrogryposis, Distal, Type 2B2
Overlapping fingers, Narrow mouth, Camptodactyly, Adducted thumb, Sandal gap, Brachydactyly, Ulna... OMIM:618435
Microcephaly, Facial Dysmorphism, Renal Agenesis, And Ambiguous Genitalia Syndrome
Overlapping fingers, Highly arched eyebrow, Atrial septal defect, Macrotia, Ventricular septal de... OMIM:618142
Developmental Delay With Or Without Dysmorphic Facies And Autism
Bulbous nose, Laryngotracheomalacia, Patent ductus arteriosus, Cerebral cortical atrophy, Vesicou... OMIM:618454
Congenital Absence Of Upper Arm And Forearm With Hand Present
Abnormal lung morphology, Stillbirth, Upper limb phocomelia, Polydactyly, Abnormal heart morpholo... ORPHA:294975
Gand Syndrome
Short philtrum, Hypertelorism, Blepharophimosis, Deeply set eye, Narrow palpebral fissure, Wide m... OMIM:615074
Cerebellofaciodental Syndrome
Scoliosis, Taurodontia, Macrodontia of permanent maxillary central incisor, Laryngomalacia, Laryn... OMIM:616202
Pfeiffer Syndrome
Broad thumb, Choanal stenosis, Dental crowding, Mandibular prognathia, Choanal atresia, Downslant... OMIM:101600
Simpson-Golabi-Behmel Syndrome, Type 1
Broad thumb, Two carpal ossification centers present at birth, Flared iliac wing, Submucous cleft... OMIM:312870
Mitochondrial Complex I Deficiency, Nuclear Type 36
Perimembranous ventricular septal defect, Periventricular leukomalacia, Microcephaly, Cardiomegaly OMIM:619170
Gorlin Syndrome
Scoliosis, Carious teeth, Hypertelorism, Palmar pits, Mandibular prognathia, Epicanthus, Hemivert... ORPHA:377
Bowen-Conradi Syndrome
Microcephaly, Micrognathia OMIM:211180
Okur-Chung Neurodevelopmental Syndrome
Scoliosis, Highly arched eyebrow, Hypertelorism, Micrognathia, Epicanthus, Synophrys, Wide nasal ... OMIM:617062
Long Qt Syndrome 16
Perimembranous ventricular septal defect, Patent ductus arteriosus after birth at term OMIM:618782
Short-Rib Thoracic Dysplasia 16 With Or Without Polydactyly
Carious teeth, Short metatarsal, Short phalanx of finger, Widely spaced teeth, Postaxial polydact... OMIM:617102
Muenke Syndrome
Broad thumb, Hypertelorism, Short middle phalanx of finger, High palate, Proptosis, Capitate-hama... OMIM:602849
Summitt Syndrome
Genu valgum, Short 4th metacarpal, Camptodactyly of finger, Hypertelorism, Finger syndactyly, Sho... ORPHA:3210
Mental Retardation, Autosomal Dominant 53
Downslanted palpebral fissures, Hypertelorism, Epicanthus OMIM:617798
Craniofacial-Deafness-Hand Syndrome
Hypertelorism, Short nose, Ulnar deviation of the hand, Ulnar deviation of the hand or of fingers... OMIM:122880
Congenital Heart Defects, Multiple Types, 4
Ventricular septal defect, Aortic valve stenosis, Hypoplastic left heart, Coarctation of aorta, A... OMIM:615779
Short Stature, Amelogenesis Imperfecta, And Skeletal Dysplasia With Scoliosis
Scoliosis, Carious teeth, Small epiphyses, High palate, Short femoral neck, Advanced ossification... OMIM:618363
Arthrogryposis, Distal, Type 2E
Narrow mouth, Trismus, Microcephaly, Micrognathia, Mild microcephaly OMIM:121070
Odontochondrodysplasia
Scoliosis, Platyspondyly, Delayed eruption of teeth, Short nose, Square pelvis bone, Micromelia, ... ORPHA:166272
Brachyolmia Type 1, Hobaek Type
Scoliosis, Short iliac bones, Kyphosis, Flattened proximal radial epiphyses, Back pain, Short lon... OMIM:271530
Weyers Acrofacial Dysostosis
Postaxial hand polydactyly, Solitary median maxillary central incisor, Clinodactyly of the 5th fi... OMIM:193530
Fetal Valproate Spectrum Disorder
Long philtrum, Thin vermilion border, Short nose, Narrow mouth, Downturned corners of mouth, Epic... ORPHA:1906
Hypomandibular Faciocranial Dysostosis
Pursed lips, Atrial septal defect, Aglossia, Patent ductus arteriosus, Micrognathia, Malar flatte... OMIM:241310
Heterotaxy, Visceral, 8, Autosomal
Unbalanced atrioventricular canal defect, Ventricular septal defect, Atrial situs ambiguous, Doub... OMIM:617205
Tetralogy Of Fallot
Thin vermilion border, Proptosis, Clinodactyly of the 5th finger, Brachydactyly, Abnormal nasal m... ORPHA:3303
Congenital Unilateral Hypoplasia Of Depressor Anguli Oris
Multiple renal cysts, Ventricular septal defect, Abnormal aortic morphology, Tooth agenesis, Cere... ORPHA:1166
Nicolaides-Baraitser Syndrome
Scoliosis, Thin vermilion border, Abnormality of the metacarpal bones, Sandal gap, Curly eyelashe... ORPHA:3051
Femoral-Facial Syndrome
Aplasia/Hypoplasia of the tibia, Oral cleft, Abnormality of the ribs, Renal hypoplasia/aplasia, A... ORPHA:1988
Robin Sequence-Oligodactyly Syndrome
Abnormality of the dentition, Hand oligodactyly, Glossoptosis, Cleft palate, Micrognathia ORPHA:3104
Neurodevelopmental Disorder With Structural Brain Anomalies And Dysmorphic Facies
Scoliosis, Long philtrum, Hypertelorism, Short nose, Long eyelashes, Proptosis, Wide nasal bridge... OMIM:618577
3Q13 Microdeletion Syndrome
Long philtrum, Hypertelorism, Epicanthus, Wide nasal bridge, Short neck, Anteverted nares, Abnorm... ORPHA:1621
Deafness-Craniofacial Syndrome
Short philtrum, Underdeveloped nasal alae, Abnormal palate morphology, Upslanted palpebral fissur... ORPHA:3241
Nicolaides-Baraitser Syndrome
Scoliosis, Wide nasal base, Long philtrum, Short metatarsal, Short phalanx of finger, Thick lower... OMIM:601358
Suleiman-El-Hattab Syndrome
Downturned corners of mouth, Overfolded helix, Polydactyly, Palpebral thickening, Hirsutism, Pate... OMIM:618950
Microphthalmia With Limb Anomalies
Sandal gap, Downslanted palpebral fissures, High palate, Depressed nasal bridge, Postaxial hand p... OMIM:206920
Lethal Osteosclerotic Bone Dysplasia
Mandibular aplasia, Median cleft lip and palate, Gingival fibromatosis, Short nose, Micrognathia,... ORPHA:1832
Agammaglobulinemia 5, Autosomal Dominant
High palate, Hypertelorism, Epicanthus OMIM:613506
Nabais Sa-De Vries Syndrome, Type 1
Highly arched eyebrow, Short nose, Bulbous nose, Deeply set eye, Narrow palpebral fissure, Epican... OMIM:618828
Andersen Cardiodysrhythmic Periodic Paralysis
Scoliosis, Enamel hypoplasia, Oligodontia, Short metatarsal, Bulbous nose, Short phalanx of finge... OMIM:170390
Ritscher-Schinzel Syndrome 1
Double outlet right ventricle, Downslanted palpebral fissures, Low posterior hairline, Micrognath... OMIM:220210
Craniosynostosis 3
Ptosis, Brachydactyly, Hallux valgus, Single transverse palmar crease OMIM:615314
Pallister W Syndrome
Radial bowing, Cubitus valgus, Hypertelorism, Agenesis of central incisor, Camptodactyly, Agenesi... OMIM:311450
Progressive Spondyloepimetaphyseal Dysplasia-Short Stature-Short Fourth Metatarsals-Intellectual Disability Syndrome
Carpal bone hypoplasia, Flattened femoral head, Thoracic platyspondyly, Increased size of nasopha... ORPHA:457395
Short Rib-Polydactyly Syndrome, Verma-Naumoff Type
Abnormal pelvis bone ossification, Abnormality of the metaphysis, Micrognathia, Wide nose, Depres... ORPHA:93271
Sandestig-Stefanova Syndrome
Hypoplasia of the corpus callosum, Oral cleft, Perimembranous ventricular septal defect, Primary ... OMIM:618804
Miller-Dieker Syndrome
Short nose, Epicanthus, Sacral dimple, Abnormality of upper lip, Clinodactyly of the 5th finger, ... ORPHA:531
Autism Spectrum Disorder Due To Auts2 Deficiency
Arthrogryposis multiplex congenita, Narrow mouth, Micrognathia, Upslanted palpebral fissure, Cong... ORPHA:352490
Mental Retardation, Autosomal Dominant 20
Short philtrum, Hypertelorism, Short nose, Downturned corners of mouth, Upslanted palpebral fissu... OMIM:613443
Neu-Laxova Syndrome 2
Scoliosis, Rocker bottom foot, Hypertelorism, Micrognathia, Cleft palate, Depressed nasal ridge, ... OMIM:616038
Microcephaly 13, Primary, Autosomal Recessive
Simplified gyral pattern, Cerebellar hypoplasia, Small hand, Short foot, Microcephaly, Micrognath... OMIM:616051
Trisomy 17P
Narrow mouth, Patent ductus arteriosus, Broad eyebrow, Oral cleft, Skeletal muscle atrophy, Downs... ORPHA:261290
Brachydactyly, Type A2, With Microcephaly
Clinodactyly of the 2nd toe, Type A2 brachydactyly, Thumbs hypoplastic with bulbous tips, Absent ... OMIM:211369
2q37 monosomy
Thin upper lip vermilion, Deeply set eye, Brachydactyly DECIPHER:44
20Q11.2 Microdeletion Syndrome
Short philtrum, Hypertelorism, Finger clinodactyly, Deeply set eye, Camptodactyly, Adducted thumb... ORPHA:444051
Distal Monosomy 1Q
Thin vermilion border, Aplasia/Hypoplasia of the corpus callosum, Smooth philtrum, Microcephaly, ... ORPHA:36367
Mental Retardation, Autosomal Recessive 61
Scoliosis, Highly arched eyebrow, Talipes equinovarus, Hypertelorism, Bulbous nose, Mandibular pr... OMIM:617773
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type
Decreased fibular diameter, Multiple prenatal fractures, Cardiomegaly, Multiple rib fractures, Mi... OMIM:616897
Preaxial Deficiency, Postaxial Polydactyly, And Hypospadias
Postaxial hand polydactyly, Brachydactyly, Short 2nd toe, Short thumb OMIM:176305
Microcephaly, Congenital Heart Disease, Unilateral Renal Agenesis, And Hyposegmented Lungs
Truncus arteriosus, Ventricular septal defect, Short distal phalanx of finger, Hydranencephaly, C... OMIM:601355
Mesomelia-Synostoses Syndrome
Abnormality of tibia morphology, Bulbous nose, Narrow mouth, Abnormality of the metacarpal bones,... ORPHA:2496
Neu-Laxova Syndrome 1
Short umbilical cord, Camptodactyly, Patent ductus arteriosus, Patent foramen ovale, Micrognathia... OMIM:256520
Intellectual Developmental Disorder, X-Linked, Syndromic, Stocco Dos Santos Type
Scoliosis, Hypertelorism, Kyphosis, Epicanthus, Small hand, Short foot, Talipes equinovarus, Hip ... OMIM:300434
Beta-Mercaptolactate Cysteine Disulfiduria
Convex nasal ridge, Genu valgum, Atrial septal defect, Hypoplasia of the ear cartilage, Low-set, ... ORPHA:1035
Lowry-Maclean Syndrome
Delayed eruption of teeth, Cleft palate, Microcephaly, Abnormal heart morphology OMIM:600252
Spondylomegaepiphyseal Dysplasia With Upper Limb Mesomelia, Punctate Calcifications, And Deafness
Scoliosis, Platyspondyly, Distal ulnar epiphyseal stippling, Mesomelic arm shortening, Broad toe,... OMIM:609616
Marshall Syndrome
Wide tufts of distal phalanges, Irregular distal femoral epiphysis, Ulnar bowing, Micrognathia, D... OMIM:154780
Faciocardiomelic Syndrome
Long philtrum, Hyperplasia of the maxilla, Hypoplastic pelvis, Polydactyly, Short eyelashes, Wide... OMIM:612731
Trisomy 9P
Scoliosis, Hypertelorism, Impacted tooth, Downturned corners of mouth, Dental crowding, Kyphosis,... ORPHA:236
Spondyloepimetaphyseal Dysplasia, Isidor-Toutain Type
Scoliosis, Platyspondyly, Enlarged metaphyses, Lower-limb metaphyseal irregularity, Short long bo... OMIM:618728
Deafness, Onychodystrophy, Osteodystrophy, Mental Retardation, And Seizures Syndrome
Bulbous nose, Open mouth, Downturned corners of mouth, Patent ductus arteriosus, Short distal pha... OMIM:220500
Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb
Broad thumb, Bulbous nose, Truncus arteriosus, Coarctation of aorta, Patent ductus arteriosus, Bi... OMIM:612474
Porencephaly, Cerebellar Hypoplasia, And Internal Malformations
Atrial septal defect, Situs inversus totalis, Porencephalic cyst, Cerebellar hypoplasia, Tetralog... OMIM:601322
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 4
Hypertelorism, Epicanthus, Depressed nasal bridge OMIM:616911
Ruvalcaba Syndrome
Scoliosis, Convex nasal ridge, Thin vermilion border, Abnormality of vertebral epiphysis morpholo... ORPHA:3121
Spondyloepimetaphyseal Dysplasia, X-Linked, With Hypomyelinating Leukodystrophy
Flared iliac wing, Thoracic kyphosis, Small epiphyses, High palate, Short femoral neck, Short nec... OMIM:300232
20P13 Microdeletion Syndrome
Highly arched eyebrow, Hypertelorism, Wide anterior fontanel, Finger syndactyly, Polydactyly, Dee... ORPHA:313781
Brachydactyly, Combined B And E Types
Broad distal phalanx of finger, Short fifth metatarsal, Short 4th metacarpal, Broad thumb, Short ... OMIM:112440
Crouzon Syndrome-Acanthosis Nigricans Syndrome
Convex nasal ridge, Hypertelorism, Abnormal form of the vertebral bodies, Hypoplasia of the maxil... ORPHA:93262
Primary Ciliary Dyskinesia
Bronchiectasis, Nasal polyposis, Intestinal malrotation, Atrial situs ambiguous, Double outlet ri... ORPHA:244
Microcephaly 8, Primary, Autosomal Recessive
Microcephaly, Retrognathia OMIM:614673
Even-Plus Syndrome
Highly arched eyebrow, Atrial septal defect, Agenesis of corpus callosum, Sparse hair, Short nose... OMIM:616854
Roifman Syndrome
Long philtrum, Short toe, Biconvex vertebral bodies, Hypertelorism, Underdeveloped nasal alae, Pr... ORPHA:353298
Brachydactyly Type A2
Type A2 brachydactyly, Short middle phalanx of finger, Clinodactyly of the 5th finger, Aplasia/Hy... ORPHA:93396
Acromegaloid Facial Appearance Syndrome
Abnormality of the tongue, Highly arched eyebrow, Macroglossia, Hypertelorism, Bulbous nose, Blep... ORPHA:965
Multiple Synostoses Syndrome
Broad thumb, Cone-shaped epiphysis, Symphalangism affecting the phalanges of the hand, Bilateral ... ORPHA:3237
Zechi-Ceide Syndrome
Thin vermilion border, Oligodontia, Short metatarsal, Downturned corners of mouth, Mandibular pro... ORPHA:217017
Fg Syndrome 4
Scoliosis, Hypertelorism, Wide nasal bridge OMIM:300422
Tetrasomy 12P
Long philtrum, Delayed eruption of teeth, Hypertelorism, Short nose, Downturned corners of mouth,... ORPHA:884
Rhizomelic Syndrome, Urbach Type
Triphalangeal thumb, Abnormality of the tongue, Preaxial hand polydactyly, Wide anterior fontanel... ORPHA:3098
Mental Retardation With Language Impairment And With Or Without Autistic Features
Hypertelorism, Short nose, Open mouth, Drooling, Broad nasal tip, Downslanted palpebral fissures,... OMIM:613670
Distal Monosomy 10Q
Craniosynostosis, Short metatarsal, Acute kidney injury, Widow's peak, Patent ductus arteriosus, ... ORPHA:96148
Orofaciodigital Syndrome Vi
Preaxial hand polydactyly, Hypertelorism, Toe syndactyly, Central Y-shaped metacarpal, Tongue nod... OMIM:277170
Feingold Syndrome 2
Ventricular septal defect, Short middle phalanx of the 2nd finger, Short thumb, Short middle phal... OMIM:614326
Osteochondrodysplasia, Brachydactyly, And Overlapping Malformed Digits
Scoliosis, Short hallux, Overlapping fingers, Postaxial polydactyly, Adducted thumb, Short distal... OMIM:618167
Aorta Coarctation
Abnormal left ventricular outflow tract morphology, Aortic valve atresia, Patent ductus arteriosu... ORPHA:1457
Brachydactyly, Type B1
Hypoplastic sacrum, Broad thumb, Wide anterior fontanel, Short middle phalanx of finger, Aplasia/... OMIM:113000
Microcephaly, Corpus Callosum Dysgenesis, And Cleft Lip/Palate
Hypoplasia of the corpus callosum, Microcephaly, Cleft upper lip, Cleft palate OMIM:601420
Frontonasal Dysplasia-Bifid Nose-Upper Limb Anomalies Syndrome
Oligodactyly, Almond-shaped palpebral fissure, Hypertelorism, Underdeveloped nasal alae, Downturn... ORPHA:521308
Short Stature-Wormian Bones-Dextrocardia Syndrome
Camptodactyly of finger, Delayed eruption of teeth, Depressed nasal tip, Abnormality of the philt... ORPHA:2863
Craniometaphyseal Dysplasia, Autosomal Recessive
Hypertelorism, Abnormal nasopharynx morphology, Nasal congestion, Mandibular prognathia, Wide nas... OMIM:218400
Roifman Syndrome
Long philtrum, Short toe, Biconvex vertebral bodies, Underdeveloped nasal alae, Prominent eyelash... OMIM:616651
Mesomelic Limb Shortening And Bowing
Mesomelic arm shortening, Cleft palate, Retrognathia, Micrognathia, Mesomelic leg shortening OMIM:249710
Gombo Syndrome
Clinodactyly, Brachydactyly, Radial deviation of finger OMIM:233270
Vacterl Association, X-Linked, With Or Without Hydrocephalus
Urethral atresia, Hand polydactyly, Hydrocephalus, Enlarged kidney, Short humerus, Absent radius,... OMIM:314390
Emery-Nelson Syndrome
Camptodactyly of finger, Long philtrum, Contractures of the interphalangeal joint of the thumb, A... ORPHA:1927
Hypochondroplasia
Scoliosis, Hyperlordosis, Short toe, Abnormal form of the vertebral bodies, Abnormality of the el... ORPHA:429
Gillessen-Kaesbach-Nishimura Syndrome
Underdeveloped nasal alae, Ulnar deviation of the hand, Narrow greater sciatic notch, Congenital ... OMIM:263210
Intellectual Developmental Disorder, X-Linked, Syndromic, 35
Scoliosis, Long philtrum, Narrow mouth, Dental crowding, Microretrognathia, Camptodactyly, Mandib... OMIM:300998
Ring Chromosome 14 Syndrome
Hypertelorism, Epicanthus, Downslanted palpebral fissures, High palate, Short neck, Anteverted na... OMIM:616606
Verheij Syndrome
Long philtrum, Renal agenesis, Short nose, Renal hypoplasia, Cerebral atrophy, Wide nasal bridge,... OMIM:615583
Craniofaciofrontodigital Syndrome
Long philtrum, Abnormal thumb morphology, Short nose, Epicanthus, Thick vermilion border, Wide na... ORPHA:363705
Parc Syndrome
Microretrognathia, Cleft palate OMIM:600331
Aminopterin Syndrome Sine Aminopterin
Highly arched eyebrow, Oligodontia, Hypertelorism, Micrognathia, Narrow palpebral fissure, Rudime... OMIM:600325
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 3
Hypertelorism, Short nose, Polydactyly, Epicanthus, Hypoplastic ischia, Depressed nasal bridge OMIM:616910
Temtamy Syndrome
Convex nasal ridge, Hypertelorism, Thick lower lip vermilion, Micrognathia, Abnormal palate morph... ORPHA:1777
Coloboma Of Macula-Brachydactyly Type B Syndrome
Camptodactyly of finger, Broad thumb, Type B brachydactyly, Short distal phalanx of finger ORPHA:1471
Tricuspid Atresia
Tricuspid atresia, Atrial septal defect, Ventricular septal defect, Pulmonary artery atresia, Per... ORPHA:1209
Dysraphism-Cleft Lip/Palate-Limb Reduction Defects Syndrome
Ventricular septal defect, Non-midline cleft lip, Aplasia/Hypoplasia of the radius, Anencephaly, ... ORPHA:2476
Baraitser-Winter Syndrome 1
Overfolded helix, Patent ductus arteriosus, Oral cleft, Sensorineural hearing impairment, Low pos... OMIM:243310
Liebenberg Syndrome
2-3 finger syndactyly, Joint contracture of the 5th finger, Abnormality of the carpal bones, Meta... OMIM:186550
Skeletal Dysplasia-Epilepsy-Short Stature Syndrome
Scoliosis, Hip dysplasia, Kyphosis, Mandibular prognathia, Hypoplastic iliac wing, Abnormality of... ORPHA:1858
Char Syndrome
Highly arched eyebrow, Short philtrum, Hypertelorism, Thick eyebrow, Ptosis, Triangular mouth, Br... OMIM:169100
Juberg-Hayward Syndrome
Scoliosis, Highly arched eyebrow, Hypoplasia of the radius, Abnormal eyebrow morphology, Hypertel... ORPHA:2319
Trisomy 4P
Scoliosis, Radial club hand, Camptodactyly of finger, Preaxial hand polydactyly, Hypertelorism, C... ORPHA:1738
Coffin-Siris Syndrome 5
Low anterior hairline, Short philtrum, Atrial septal defect, Thick lower lip vermilion, Hypoplasi... OMIM:616938
Van Der Woude Syndrome 2
Cleft palate, Cleft upper lip, Anodontia OMIM:606713
Sillence Syndrome
Scoliosis, Large iliac wing, Abnormal proximal phalanx morphology of the hand, Broad thumb, Campt... ORPHA:3168
C Syndrome
Patent ductus arteriosus, High palate, Micrognathia, Dislocated radial head, Postaxial hand polyd... OMIM:211750
Isolated Dandy-Walker Malformation
Tetralogy of Fallot, Aplasia/Hypoplasia of the corpus callosum, Dandy-Walker malformation, Cleft ... ORPHA:217
16P13.11 Microduplication Syndrome
Craniosynostosis, Hand polydactyly, Atrial septal defect, Ventricular septal defect, Joint hyperf... ORPHA:261243
Familial Scaphocephaly Syndrome, Mcgillivray Type
Open bite, Toe syndactyly, Hypertelorism, Upslanted palpebral fissure, Broad hallux phalanx, Mand... ORPHA:168624
Brachydactyly Type C
Type C brachydactyly, Stippling of the epiphysis of the distal phalanx of the thumb, Short metata... ORPHA:93384
Mental Retardation, Autosomal Dominant 26
Scoliosis, Highly arched eyebrow, Wide nasal base, Short philtrum, Hypertelorism, Narrow mouth, K... OMIM:615834
Cerebrooculofacioskeletal Syndrome 3
Microcephaly, Micrognathia, Cleft palate OMIM:616570
3P25.3 Microdeletion Syndrome
Broad thumb, Cerebral white matter atrophy, Downturned corners of mouth, Mandibular prognathia, P... ORPHA:435638
Jackson-Weiss Syndrome
Convex nasal ridge, Hypertelorism, Short metatarsal, Toe syndactyly, Broad hallux phalanx, Broad ... ORPHA:1540
Acrofrontofacionasal Dysostosis
Eyelid coloboma, Camptodactyly of finger, Hypertelorism, Broad nasal tip, Broad thumb, Abnormalit... ORPHA:1784
Mitochondrial Myopathy And Sideroblastic Anemia
Scoliosis, Long philtrum, Short nose, Kyphosis, Distichiasis, High palate, Micrognathia ORPHA:2598
Hyperphosphatasia With Mental Retardation Syndrome 6
Bulbous nose, Abnormal renal collecting system morphology, High palate, Elbow flexion contracture... OMIM:616809
Keipert Syndrome
Short hallux, Broad distal phalanx of finger, Hypertelorism, Broad thumb, Hypoplasia of the maxil... ORPHA:2662
5Q14.3 Microdeletion Syndrome
Short philtrum, Toe syndactyly, Short nose, Open mouth, Deeply set eye, Upslanted palpebral fissu... ORPHA:228384
Thakker-Donnai Syndrome
Agenesis of corpus callosum, Bulbous nose, Communicating hydrocephalus, Macrotia, Narrow mouth, D... ORPHA:1780
Hadziselimovic Syndrome
Low anterior hairline, Ventricular hypertrophy, Atrial septal defect, Anteverted nares, Ventricul... OMIM:612946
Craniofrontonasal Dysplasia
Scoliosis, Camptodactyly of finger, Hypertelorism, Hand polydactyly, Finger syndactyly, Broad hal... ORPHA:1520
Non-Distal Monosomy 10Q
Overlapping fingers, Upslanted palpebral fissure, Epicanthus, Synophrys, Wide nasal bridge, Bilat... ORPHA:1581
Brachydactyly, Type A1, With Short Stature, Scoliosis, Microcephaly, Ptosis, Hearing Loss, And Mental Retardation
Scoliosis, Short proximal phalanx of finger, Short metatarsal, Bulbous nose, Short middle phalanx... OMIM:613627
Brachydactyly-Distal Symphalangism Syndrome
Camptodactyly of finger, Distal symphalangism of hands, Short 1st metacarpal, Aplasia of the midd... OMIM:113450
Basel-Vanagaite-Smirin-Yosef Syndrome
Sparse eyebrow, Mandibular prognathia, Left superior vena cava draining to coronary sinus, Downsl... ORPHA:464738
Diabetes Insipidus, Neurohypophyseal
Long philtrum, Hypertelorism, Short nose, Wide nose OMIM:125700
Tarp Syndrome
Tongue nodules, Postaxial polydactyly, High palate, Micrognathia, Prominent antihelix, Deep palma... OMIM:311900
Peroxisome Biogenesis Disorder 6A (Zellweger)
Epiphyseal stippling, Pachygyria, Wide nasal bridge, Low-set ears, Renal cyst, Colpocephaly OMIM:614870
Neurodevelopmental Disorder With Dysmorphic Facies And Distal Skeletal Anomalies
Scoliosis, Narrow mouth, Downslanted palpebral fissures, Exaggerated cupid's bow, Micrognathia, H... OMIM:618659
Orofaciodigital Syndrome Viii
Hypertelorism, Broad nasal tip, Polydactyly, Short tibia, Cleft palate, Hypoplasia of the epiglot... OMIM:300484
Odontochondrodysplasia 1
Scoliosis, Short phalanx of finger, Flared iliac wing, Flat acetabular roof, Small epiphyses, Con... OMIM:184260
Spondyloperipheral Dysplasia-Short Ulna Syndrome
Hip dysplasia, Type E brachydactyly, Platyspondyly, Delayed pubic bone ossification, Abnormal hip... ORPHA:1856
Blepharocheilodontic Syndrome 2
Hypertelorism, Ectropion of lower eyelids, Conical tooth, Tooth agenesis, Distichiasis, Eurybleph... OMIM:617681
Vitamin K Antagonist Embryofetopathy
Macroglossia, Epiphyseal stippling, Punctate vertebral calcifications, Short nose, Hypertelorism,... ORPHA:1914
Pallister-Hall Syndrome
Y-shaped metacarpals, Hydroureter, Atresia of the external auditory canal, Natal tooth, Choanal a... OMIM:146510
Radioulnar Synostosis-Developmental Delay-Hypotonia Syndrome
Carious teeth, Radioulnar synostosis, Abnormal palate morphology, Abnormality of the dentition, M... ORPHA:3270
Craniofacial Dysplasia-Short Stature-Ectodermal Anomalies-Intellectual Disability Syndrome
Sparse eyebrow, Camptodactyly, Bilateral single transverse palmar creases, Mild hearing impairmen... ORPHA:459061
Multiple Epiphyseal Dysplasia, Beighton Type
Lumbar platyspondyly, Abnormal hip joint morphology, Flattened femoral head, Thoracic platyspondy... ORPHA:166011
Metatropic Dysplasia
Scoliosis, Platyspondyly, Anisospondyly, Long coccyx, Kyphosis, Flared femoral metaphysis, Abnorm... OMIM:156530
Thai Symphalangism Syndrome
Postaxial hand polydactyly, Distal symphalangism of hands, Short finger, Proximal symphalangism o... OMIM:608028
Otopalatodigital Syndrome Type 2
Oligodontia, Tarsal synostosis, Narrow mouth, Flared iliac wing, Elbow dislocation, Hypoplastic f... ORPHA:90652
20P12.3 Microdeletion Syndrome
Long philtrum, Thickened helices, Atrial septal defect, Broad thumb, Narrow mouth, Hypoplasia of ... ORPHA:261295
3C Syndrome
Intestinal malrotation, Oral cleft, Downslanted palpebral fissures, High, narrow palate, Microgna... ORPHA:7
X-Linked Intellectual Disability-Dysmorphism-Cerebral Atrophy Syndrome
Hypertelorism, Finger clinodactyly, Abnormal number of incisors, Epicanthus, Ptosis, Bilateral ta... ORPHA:2958
Coffin-Siris Syndrome 7
Short philtrum, Hypertelorism, Wide mouth, Thin upper lip vermilion, Thick eyebrow, Clinodactyly,... OMIM:618027
Tetraamelia Syndrome 2
Hypoplastic pulmonary veins, Ankyloglossia, Ventricular septal defect, Microretrognathia, Glossop... OMIM:618021
Pseudoachondroplasia
Scoliosis, Irregular carpal bones, Short phalanx of finger, Metaphyseal irregularity, Carpal bone... OMIM:177170
8Q12 Microduplication Syndrome
Highly arched eyebrow, Long philtrum, Abnormal cranial nerve morphology, Atrial septal defect, Na... ORPHA:228399
Ohdo Syndrome
Long philtrum, Thin vermilion border, Short nose, Blepharophimosis, Narrow mouth, Hypoplasia of t... OMIM:249620
Trisomy 12P
Hypertelorism, Short nose, Downturned corners of mouth, Micrognathia, Everted lower lip vermilion... ORPHA:1699
Acrocapitofemoral Dysplasia
Scoliosis, Flared iliac wing, Ovoid vertebral bodies, Short distal phalanx of finger, Cone-shaped... OMIM:607778
Metaphyseal Chondrodysplasia, Schmid Type
Metaphyseal irregularity, Bowing of the legs, Femoral bowing, Hip dysplasia, Ulnar metaphyseal ir... ORPHA:174
Anauxetic Dysplasia 2
Hyperlordosis, Cubitus valgus, Macroglossia, Hypoplasia of the femoral head, Ovoid vertebral bodi... OMIM:617396
Isolated Brachycephaly
Metacarpal synostosis, Brachydactyly, Hypertelorism, Proptosis ORPHA:35099
Otospondylomegaepiphyseal Dysplasia
Abnormality of long bone morphology, Short phalanx of finger, Sandal gap, Short neck, Micrognathi... ORPHA:1427
Al-Raqad Syndrome
Narrow mouth, Short nose, Deeply set eye, Sandal gap, Thin upper lip vermilion, Brachydactyly OMIM:616459
Autosomal Dominant Omodysplasia
Long philtrum, Hypertelorism, Short nose, Elbow dislocation, Rhizomelia, Short 1st metacarpal, Sh... ORPHA:93328
Orofacial Cleft 15
Agenesis of lateral incisor, Sparse eyebrow, Bulbous nose, Hypertelorism, Upslanted palpebral fis... OMIM:616788
Spinocerebellar Ataxia, Autosomal Recessive 20
Scoliosis, Wide nasal base, Long philtrum, Macroglossia, Delayed eruption of teeth, Talipes equin... OMIM:616354
Fibrochondrogenesis 2
Platyspondyly, Short nose, Hypoplastic ilia, Metaphyseal cupping, Hypoplastic pubic bone, Malar f... OMIM:614524
Fallot Complex-Intellectual Disability-Growth Delay Syndrome
Atrial septal defect, Patent ductus arteriosus, Thin upper lip vermilion, Pulmonic stenosis, Doub... ORPHA:3304
Urban-Rogers-Meyer Syndrome
Camptodactyly of finger, Toe syndactyly, Abnormality of the philtrum, Abnormality of epiphysis mo... ORPHA:3409
Mcdonough Syndrome
Scoliosis, Open bite, Short philtrum, Hypertelorism, Underdeveloped nasal alae, Kyphosis, Mandibu... ORPHA:2471
Ascher Syndrome
Hypertelorism, Abnormal eyelid morphology, Blepharophimosis, Abnormality of upper lip, Ptosis, Up... ORPHA:1253
Distal Trisomy 18Q
Camptodactyly of finger, Carious teeth, Short nose, Abnormality of dental morphology, Micrognathi... ORPHA:1716
Chromosome 15Q26-Qter Deletion Syndrome
Blepharophimosis, Short middle phalanx of finger, Wide nasal bridge, Talipes equinovarus, Microgn... OMIM:612626
Carpenter Syndrome 2
Craniosynostosis, Broad thumb, Narrow palate, Camptodactyly, Patent ductus arteriosus, Postaxial ... OMIM:614976
Chromosome 8Q22.1 Duplication Syndrome
Cubitus valgus, Short metatarsal, Abnormality of the vertebral column, Blepharophimosis, Enlarged... OMIM:151200
Congenital Heart Defects, Dysmorphic Facial Features, And Intellectual Developmental Disorder
Joint hypermobility, Short philtrum, Atrial septal defect, Narrow mouth, Ventricular septal defec... OMIM:617360
Nablus Mask-Like Facial Syndrome
Narrow mouth, Camptodactyly, High palate, Short neck, Hypoplasia of the maxilla, Depressed nasal ... OMIM:608156
Spondylocostal Dysostosis-Hypospadias-Intellectual Disability Syndrome
Clubbing of fingers, Penile hypospadias, Superiorly displaced ears, Swan neck-like deformities of... ORPHA:329252
Weaver-Williams Syndrome
Microcephaly, Narrow mouth, Cleft palate ORPHA:3448
Freeman-Sheldon Syndrome
Scoliosis, Camptodactyly of finger, Long philtrum, Hypertelorism, Narrow mouth, Underdeveloped na... ORPHA:2053
Conotruncal Heart Malformations
Truncus arteriosus, Complete atrioventricular canal defect, Double outlet right ventricle, Coarct... OMIM:217095
Cornelia De Lange Syndrome 3 With Or Without Midline Brain Defects
Thin vermilion border, Bulbous nose, Downturned corners of mouth, Hydroureter, Hirsutism, Patent ... OMIM:610759
Prieto X-Linked Mental Retardation Syndrome
Hypertelorism, Epicanthus, Abnormality of the dentition, Radial deviation of finger, Clinodactyly... OMIM:309610
Oligodontia
Enamel hypoplasia, Oligodontia, Agenesis of maxillary lateral incisor, Hypoplasia of teeth, Oral ... ORPHA:99798
Mosaic Trisomy 14
Camptodactyly of finger, Hypertelorism, Blepharophimosis, Micrognathia, Wide mouth, Bilateral sin... ORPHA:1703
Carey-Fineman-Ziter Syndrome
Thin vermilion border, Aplasia/Hypoplasia of the tongue, Cerebral calcification, Skeletal muscle ... ORPHA:1358
Camptodactyly Syndrome, Guadalajara, Type Ii
Camptodactyly of finger, Short 3rd toe, Long philtrum, Short neck, Talipes equinovarus, Micrognat... OMIM:211920
Waardenburg Syndrome, Type 3
Camptodactyly of finger, Scapular winging, Blepharophimosis, Mandibular prognathia, Synophrys, Wi... OMIM:148820
Agenesis Of The Corpus Callosum With Peripheral Neuropathy
Respiratory tract infection, Low anterior hairline, Decreased motor nerve conduction velocity, De... OMIM:218000
Moebius Syndrome
Short phalanx of finger, Split hand, Camptodactyly, Congenital fibrosis of extraocular muscles, L... OMIM:157900
Spondyloperipheral Dysplasia
Short metatarsal, Broad thumb, Short distal phalanx of the 2nd finger, Short distal phalanx of fi... OMIM:271700
Spondylometaphyseal Dysplasia With Cone-Rod Dystrophy
Scoliosis, Platyspondyly, Metaphyseal irregularity, Hypoplastic inferior ilia, Ovoid vertebral bo... OMIM:608940
Dysostosis, Stanescu Type
Scoliosis, Carious teeth, Massively thickened long bone cortices, Abnormal dental enamel morpholo... ORPHA:1798
Triphalangeal Thumbs With Brachyectrodactyly
Short 3rd toe, Split hand, Split foot, Triphalangeal thumb, Brachydactyly, Short 2nd finger OMIM:190680
Diastrophic Dysplasia
Hypoplastic cervical vertebrae, Hitchhiker thumb, Laryngotracheal stenosis, Short finger, Irregul... OMIM:222600
Skraban-Deardorff Syndrome
Hyperplasia of the maxilla, Hypoplasia of the corpus callosum, Recurrent otitis media, Ventriculo... OMIM:617616
Intellectual Developmental Disorder, X-Linked 21
Hypertelorism, Short nose, Open mouth, Dental crowding, Upslanted palpebral fissure, Mandibular p... OMIM:300143
Short Ulna-Dysmorphism-Hypotonia-Intellectual Disability Syndrome
Long philtrum, Hypertelorism, Everted lower lip vermilion, Thick nasal alae, Synophrys, Hypoplasi... ORPHA:357175
Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly
Polydactyly, Postaxial polydactyly, Short distal phalanx of finger, Flat acetabular roof, High pa... OMIM:614091
Syndactyly, Type V
3-4 toe syndactyly, 4-5 toe syndactyly, Camptodactyly of finger, Fused fourth and fifth metacarpa... OMIM:186300
Craniofacial Dyssynostosis
Short philtrum, Hypertelorism, Underdeveloped nasal alae, Open mouth, Micrognathia, Epicanthus, S... ORPHA:1516
Hamel Cerebro-Palato-Cardiac Syndrome
Atrial septal defect, Narrow mouth, Cleft palate, Microcephaly, Micrognathia, Malar flattening ORPHA:93946
Abruzzo-Erickson Syndrome
Short toe, Atrial septal defect, Toe syndactyly, Radioulnar synostosis, Macrotia, Conductive hear... ORPHA:921
Fibuloulnar Aplasia Or Hypoplasia With Renal Abnormalities
Truncus arteriosus, Ventricular septal defect, Renal hypoplasia, Abnormality of the pinna, Hypopl... OMIM:228940
Chromosome 15Q14 Deletion Syndrome
Short philtrum, Atrial septal defect, Ventricular septal defect, Everted lower lip vermilion, Ten... OMIM:616898
Taurodontism, Microdontia, And Dens Invaginatus
Microdontia, Dens in dente, Pulp calcification, Taurodontia OMIM:313490
Combined Oxidative Phosphorylation Deficiency 25
Long philtrum, Hypertelorism, Short nose, Wide nasal bridge, Anteverted nares, Depressed nasal br... OMIM:616430
Intellectual Developmental Disorder With Cardiac Defects And Dysmorphic Facies
Patent ductus arteriosus, Pulmonary artery atresia, Double outlet right ventricle, Long toe, Pate... OMIM:618316
Rhiny
Thin vermilion border, Anteverted nares, Short nose OMIM:180360
Non-Distal Trisomy 13Q
Long philtrum, Thin vermilion border, Postaxial hand polydactyly, Short nose, Micrognathia, Abnor... ORPHA:1702
Atelosteogenesis Type Ii
Short phalanx of finger, Elbow dislocation, Hitchhiker thumb, Camptodactyly, Sandal gap, Metatars... ORPHA:56304
Corpus Callosum, Agenesis Of, With Facial Anomalies And Robin Sequence
Downturned corners of mouth, Patent ductus arteriosus, Abnormal cardiac septum morphology, Microg... OMIM:217980
Neurodevelopmental Disorder With Or Without Variable Brain Abnormalities
Scoliosis, Long philtrum, Short philtrum, Hypertelorism, Narrow mouth, Anteverted nares, Upslante... OMIM:618443
Intellectual Disability, Birk-Barel Type
Highly arched eyebrow, Short philtrum, Congenital finger flexion contractures, Open mouth, High, ... ORPHA:166108
Intellectual Disability-Severe Speech Delay-Mild Dysmorphism Syndrome
Prominent nasolabial fold, Open mouth, Downturned corners of mouth, Mandibular prognathia, Abnorm... ORPHA:391372
Spondylometaphyseal Dysplasia, X-Linked
Platyspondyly, Hypertelorism, Kyphosis, Short finger, Hyperextensibility of the finger joints, Wi... OMIM:313420
Dyssegmental Dysplasia With Glaucoma
Platyspondyly, Wide anterior fontanel, Broad long bones, Proptosis, Short long bone, Cleft palate... OMIM:601561
Chondrodysplasia Punctata, Tibia-Metacarpal Type
Short 4th metacarpal, Short 3rd metacarpal, Epiphyseal stippling, Coronal cleft vertebrae, Limb u... OMIM:118651
Feingold Syndrome Type 2
Ventricular septal defect, Short middle phalanx of finger, Jejunal atresia, Short thumb, Microcep... ORPHA:391646
Auriculocondylar Syndrome 2
Narrow mouth, Dental crowding, Micrognathia, Mandibular condyle aplasia, Cleft palate, Glossoptos... OMIM:614669
Carey-Fineman-Ziter Syndrome
Skeletal muscle atrophy, Downslanted palpebral fissures, Micrognathia, Depressed nasal bridge, Ve... OMIM:254940
Mental Retardation, Autosomal Dominant 21
Long philtrum, Thin vermilion border, Hypertelorism, Narrow mouth, Epicanthus, Long eyelashes, Sa... OMIM:615502
Heart-Hand Syndrome Type 2
Short 4th metacarpal, Hand polydactyly, Hemiatrophy, Abnormal palate morphology, Short 5th metaca... ORPHA:1350
Multiple Synostoses Syndrome 1
Fusion of midphalangeal joints, Tarsal synostosis, Underdeveloped nasal alae, Lower limb undergro... OMIM:186500
Chromosome 18Q Deletion Syndrome
Joint laxity, Choanal stenosis, Downturned corners of mouth, Mandibular prognathia, Atresia of th... OMIM:601808
Short-Rib Thoracic Dysplasia 2 With Or Without Polydactyly
Postaxial hand polydactyly, Broad palm, Rhizomelia, Mesomelia, Short foot, Short metacarpal, Brac... OMIM:611263
Mental Retardation, Autosomal Recessive 35
Long philtrum, Hypertelorism, Downturned corners of mouth, Everted lower lip vermilion, Thick nas... OMIM:615162
Raine Syndrome
Enamel hypoplasia, Arthrogryposis multiplex congenita, Narrow mouth, Choanal stenosis, Hydrourete... OMIM:259775
Linear Skin Defects With Multiple Congenital Anomalies 2
Highly arched eyebrow, Long philtrum, Ventricular hypertrophy, Atrial septal defect, Short nose, ... OMIM:300887
Short-Rib Thoracic Dysplasia 9 With Or Without Polydactyly
Nephronophthisis, Macroglossia, Craniosynostosis, Short phalanx of finger, High palate, Cone-shap... OMIM:266920
Emanuel Syndrome
Congenital hip dislocation, Dental crowding, Patent ductus arteriosus, Broad jaw, Congenital diap... OMIM:609029
Cornelia De Lange Syndrome 1
Downturned corners of mouth, Hirsutism, Choanal atresia, Pneumonia, Sensorineural hearing impairm... OMIM:122470
Contractures-Developmental Delay-Pierre Robin Syndrome
Underdeveloped nasal alae, Overfolded helix, Peripheral pulmonary artery stenosis, Cerebral white... ORPHA:436003
Fibular Aplasia-Complex Brachydactyly Syndrome
Abnormality of tibia morphology, Abnormal thumb morphology, Tarsal synostosis, Synostosis of carp... ORPHA:2639
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 3
Short phalanx of finger, Downslanted palpebral fissures, High palate, Short femoral neck, Flat ca... OMIM:612350
Short-Rib Thoracic Dysplasia 17 With Or Without Polydactyly
Polydactyly, Brachydactyly OMIM:617405
Cleft Palate, Cardiac Defects, And Mental Retardation
Highly arched eyebrow, Atrial septal defect, Sparse eyebrow, Broad thumb, Ventricular septal defe... OMIM:600987
Atelosteogenesis Type I
Scoliosis, Platyspondyly, Short femur, Hypertelorism, Abnormal ossification involving the femoral... ORPHA:1190
Congenital Hypotonia, Epilepsy, Developmental Delay, And Digital Anomalies
Joint hypermobility, Bulbous nose, Open mouth, High, narrow palate, Hip dysplasia, Long philtrum,... OMIM:618494
Neurofaciodigitorenal Syndrome
Hypoplasia of the premaxilla, Abnormality of the philtrum, Mandibular prognathia, Atresia of the ... ORPHA:2673
Stickler Syndrome Type 1
Platyspondyly, Long philtrum, Abnormality of vertebral epiphysis morphology, Short nose, Abnormal... ORPHA:90653
Perlman Syndrome
Short nose, Open mouth, Deeply set eye, Epicanthus, Smooth philtrum, Bilateral single transverse ... ORPHA:2849
Mandibulofacial Dysostosis-Microcephaly Syndrome
Abnormality of the antihelix, Overfolded helix, Atresia of the external auditory canal, Micrognat... ORPHA:79113
Spinocerebellar Ataxia-Dysmorphism Syndrome
Cubitus valgus, Short nose, Downturned corners of mouth, Epicanthus, Thick vermilion border, Prop... ORPHA:1185
Hajdu-Cheney Syndrome
Foot acroosteolysis, Joint laxity, Hirsutism, Intestinal malrotation, Patent ductus arteriosus, P... OMIM:102500
Shashi-Pena Syndrome
Scoliosis, Highly arched eyebrow, Deep palmar crease, Hypertelorism, Kyphosis, Proptosis, Ptosis,... OMIM:617190
Fibulo-Ulnar Hypoplasia-Renal Anomalies Syndrome
Aplasia of the proximal phalanges of the hand, Hypertelorism, Finger syndactyly, Hypoplasia of th... ORPHA:2256
Kbg Syndrome
Long philtrum, Oligodontia, Hypertelorism, Underdeveloped nasal alae, Widely-spaced maxillary cen... OMIM:148050
Greig Cephalopolysyndactyly Syndrome
Postaxial hand polydactyly, Broad thumb, Hypertelorism, Preaxial hand polydactyly, Toe syndactyly... ORPHA:380
Holoprosencephaly-Postaxial Polydactyly Syndrome
Hypoplasia of the premaxilla, Narrow mouth, Intestinal malrotation, Oral cleft, Renal hypoplasia/... ORPHA:2166
Short Stature-Obesity Syndrome
Micromelia, Limb undergrowth, Clinodactyly of the 5th finger, Prominent nasal bridge, Micrognathi... OMIM:269870
Pentasomy X
Hip dysplasia, Camptodactyly of finger, Hypertelorism, Radioulnar synostosis, Micrognathia, Upsla... ORPHA:11
Trisomy 1Q
Narrow mouth, Patent ductus arteriosus, Congenital diaphragmatic hernia, Abnormality of the ribs,... ORPHA:261344
Craniosynostosis, Herrmann-Opitz Type
Convex nasal ridge, Abnormality of the antihelix, Craniosynostosis, Short nose, Finger syndactyly... ORPHA:2145
Hennekam Lymphangiectasia-Lymphedema Syndrome 1
Oligodontia, Narrow palate, Narrow mouth, Camptodactyly, Hirsutism, Pericardial effusion, Bilater... OMIM:235510
Congenital Heart Defect-Round Face-Developmental Delay Syndrome
Narrow mouth, Short nose, Depressed nasal ridge, Abnormal oral cavity morphology, Anteverted nares ORPHA:1355
Oculodentodigital Dysplasia
Neurogenic bladder, Carious teeth, Abnormal dental enamel morphology, Underdeveloped nasal alae, ... ORPHA:2710
Chand Syndrome