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,  b2b019Clo,  mpk1,  Pk1

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
Progressive Myoclonic Epilepsy Type 1
Dementia, Myoclonus, Morning myoclonic jerks ORPHA:308
Epilepsy, Progressive Myoclonic, 1B
Myoclonus, Generalized myoclonic seizure, Atonic seizure OMIM:612437

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

Disease Similarity of
phenotypes
Matching phenotypes Source
Intellectual Developmental Disorder, Autosomal Dominant 3
Seizure OMIM:612580
Intellectual Developmental Disorder, X-Linked 96
Seizure OMIM:300802
Intellectual Developmental Disorder, X-Linked 88
Seizure OMIM:300852
15q13.3 microdeletion syndrome
Seizure DECIPHER:74
Epilepsy, Nocturnal Frontal Lobe, 3
Seizure OMIM:605375
Intellectual Developmental Disorder, Autosomal Dominant 10
Seizure OMIM:614256
Kifafa Seizure Disorder
Seizure OMIM:245180
Intellectual Developmental Disorder, Autosomal Recessive 10
Seizure OMIM:611096
Autism, Susceptibility To, 20
Attention deficit hyperactivity disorder, Reduced social reciprocity OMIM:618830
Syngnathia
Cleft palate OMIM:119550
Orofacial Cleft 11
Cleft lip, Cleft palate OMIM:600625
Pierre Robin Syndrome
Cor pulmonale, Micrognathia, Glossoptosis, Cleft palate, Pierre-Robin sequence OMIM:261800
Brachydactyly, Type C
Angel-shaped phalanx, Ulnar deviation of the 2nd finger, Triangular epiphysis of the proximal pha... OMIM:113100
Cleft Palate-Short Stature-Vertebral Anomalies Syndrome
Anteverted nares, Micrognathia, Thin upper lip vermilion, Short nose, Cleft palate ORPHA:2015
Autosomal Recessive Robinow Syndrome
Multicystic kidney dysplasia, Toe syndactyly, Synostosis of carpal bones, Finger syndactyly, Elbo... ORPHA:1507
Genitopalatocardiac Syndrome
Cleft upper lip, Micrognathia, Right aortic arch, Ventricular septal defect, Transposition of the... OMIM:231060
17Q21.31 Microduplication Syndrome
Abnormality of the dentition, Toe syndactyly, Sandal gap, Anteverted nares, Micrognathia, Thick e... ORPHA:217340
Tetrasomy X
Abnormality of the dentition, Upslanted palpebral fissure, Radioulnar synostosis, Epicanthus, Bra... ORPHA:9
Intellectual Developmental Disorder, X-Linked 91
Short 5th finger, Small hand, Clinodactyly, Macrodontia, Epicanthus, Cubitus valgus, High palate,... OMIM:300577
Fallot Complex With Severe Mental And Growth Retardation
Tetralogy of Fallot, Double outlet right ventricle, Pulmonic stenosis, Ventricular septal defect OMIM:601127
Robinow Syndrome, Autosomal Recessive 1
Low-set ears, Bifid distal phalanx of toe, Small hand, Broad thumb, Clinodactyly, Radial bowing, ... OMIM:268310
Orofaciodigital Syndrome I
Low-set ears, Carious teeth, Dry hair, Clinodactyly, Hearing impairment, Ankyloglossia, Ovarian c... OMIM:311200
14Q11.2 Microdeletion Syndrome
Toe clinodactyly, Depressed nasal bridge, Highly arched eyebrow, Toe syndactyly, Sparse lateral e... ORPHA:261120
Robinow Syndrome, Autosomal Dominant 3
Low-set ears, Broad thumb, Clinodactyly, Hearing impairment, Micrognathia, Ventricular septal def... OMIM:616894
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly
Natal tooth, Short tibia, Encephalocele, Anal atresia, Flat acetabular roof, Patent ductus arteri... OMIM:616300
Acromicric Dysplasia
Small hand, Fifth metacarpal with ulnar notch, Abnormal epiphysis morphology, Long philtrum, Thic... ORPHA:969
X-Linked Intellectual Disability, Stoll Type
Hypoplastic nasal bridge, Broad nasal tip, Long philtrum, Anteverted nares, Malar flattening, Hyp... ORPHA:85326
Pierre Robin Syndrome And Oligodactyly
Finger aplasia, Micrognathia, Cleft palate, Pierre-Robin sequence OMIM:172880
Palatopharyngeal Incompetence
Velopharyngeal insufficiency, Cleft palate OMIM:167500
Orofaciodigital Syndrome Ii
Postaxial foot polydactyly, Micrognathia, High palate, Accessory oral frenulum, Syndactyly, Hypop... OMIM:252100
Orofacial Cleft 13
Retrognathia, Micrognathia, Cleft soft palate, Malar flattening, Oligodontia OMIM:613857
Chromosome 15Q13.3 Deletion Syndrome
Brachydactyly, Hypertelorism, Clinodactyly of the 5th finger, Abnormality of the palpebral fissur... OMIM:612001
Hall-Riggs Syndrome
Platyspondyly, Depressed nasal bridge, Kyphosis, Thick lower lip vermilion, Prominent nose, Antev... OMIM:234250
Robinow Syndrome
Flared nostrils, Tooth malposition, Multicystic kidney dysplasia, Low-set ears, Ankyloglossia, Ma... ORPHA:97360
Alar Cartilages Hypoplasia-Coloboma-Telecanthus Syndrome
Wide nasal bridge, Underdeveloped nasal alae, Telecanthus, Cleft ala nasi, Convex nasal ridge, Hy... ORPHA:2007
Carpenter Syndrome 1
Low-set ears, Lambdoidal craniosynostosis, Joint contracture of the hand, Toe syndactyly, Shallow... OMIM:201000
Weiss-Kruszka Syndrome
Highly arched eyebrow, Downslanted palpebral fissures, Exaggerated cupid's bow, Single transverse... ORPHA:502430
Maxillonasal Dysplasia, Binder Type
Depressed nasal bridge, Short distal phalanx of finger, Dental malocclusion, Short columella, Pat... OMIM:155050
Multiple Epiphyseal Dysplasia, Lowry Type
Epiphyseal dysplasia, Delayed epiphyseal ossification, Rhizomelia, Broad nasal tip, Small epiphys... ORPHA:166016
Orofaciodigital Syndrome V
Low-set ears, Postaxial foot polydactyly, Hearing impairment, Ankyloglossia, Ventricular septal d... OMIM:174300
Trisomy 8Q
Wide nasal bridge, Camptodactyly of finger, Myelomeningocele, Low-set, posteriorly rotated ears, ... ORPHA:1752
Teebi Hypertelorism Syndrome 2
Depressed nasal bridge, Broad nasal tip, Proptosis, Delayed eruption of teeth, Thick eyebrow, Mic... OMIM:619736
Au-Kline Syndrome
Chronic kidney disease, Aortic root aneurysm, Dilatation of the renal pelvis, Supernumerary nippl... OMIM:616580
Craniofacial-Deafness-Hand Syndrome
Depressed nasal bridge, Depressed nasal ridge, Ulnar deviation of finger, Hypoplasia of the maxil... ORPHA:1529
Acrocephalopolydactyly
Depressed nasal ridge, Epicanthus, Short neck, Limb undergrowth, Brachydactyly, Short long bone, ... ORPHA:221054
Orofaciodigital Syndrome Type 5
Postaxial foot polydactyly, Postaxial polysyndactyly of foot, Cleft soft palate, Agenesis of corp... ORPHA:2919
Membranous Cranial Ossification, Delayed
Depressed nasal bridge, Hypertelorism, Downslanted palpebral fissures OMIM:155980
Orofacial Cleft 10
Unilateral cleft palate, Unilateral cleft lip OMIM:613705
Velo-Facial-Skeletal Syndrome
Wide nasal bridge, Abnormality of the dentition, High, narrow palate, Prominent fingertip pads, T... ORPHA:3424
Intellectual Developmental Disorder With Hypertelorism And Distinctive Facies
Wide nasal bridge, Broad nasal tip, Long philtrum, Thick nasal alae, Thin eyebrow, Narrow jaw, Th... OMIM:618147
Rhizomelic Dysplasia, Patterson-Lowry Type
Depressed nasal ridge, Rhizomelia, Deviation of finger, Abnormal form of the vertebral bodies, Ge... ORPHA:2831
Fetal Trimethadione Syndrome
Low-set ears, Depressed nasal bridge, Abnormal helix morphology, Tetralogy of Fallot, Micrognathi... ORPHA:1913
Ankyloblepharon Filiforme Adnatum-Imperforate Anus Syndrome
Non-midline cleft of the upper lip, Cleft palate, Tooth agenesis ORPHA:1074
Larsen-Like Osseous Dysplasia-Short Stature Syndrome
Abnormal pelvic girdle bone morphology, Proptosis, Abnormal form of the vertebral bodies, Narrow ... ORPHA:2370
Isolated Pierre Robin Syndrome
Micrognathia, Glossoptosis, Cleft palate ORPHA:718
Robinow Syndrome, Autosomal Dominant 1
Low-set ears, Bifid distal phalanx of toe, Small hand, Broad thumb, Clinodactyly, Micrognathia, S... OMIM:180700
Delayed Membranous Cranial Ossification
Depressed nasal ridge, Upslanted palpebral fissure, Hypertelorism ORPHA:3034
Congenital Velopharyngeal Incompetence
Velopharyngeal insufficiency, Abnormal palate morphology ORPHA:2291
Rubinstein-Taybi Syndrome 2
Broad thumb, Carious teeth, Short 5th toe, Micrognathia, Epicanthus, High palate, Syndactyly, Pro... OMIM:613684
Peroxisome Biogenesis Disorder 10A (Zellweger)
Downslanted palpebral fissures, Prominent nose, Micrognathia, Epiphyseal stippling, Epicanthus, H... OMIM:614882
Familial Intestinal Malrotation
Long palpebral fissure, Depressed nasal bridge, Anteverted nares, Hypertelorism ORPHA:508410
Autosomal Dominant Robinow Syndrome
Low-set ears, Finger syndactyly, Elbow dislocation, Hearing impairment, Open bite, Micrognathia, ... ORPHA:3107
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation
Lambdoidal craniosynostosis, Exaggerated median tongue furrow, Intestinal pseudo-obstruction, Sup... ORPHA:453504
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion
Lambdoidal craniosynostosis, Exaggerated median tongue furrow, Intestinal pseudo-obstruction, Sup... ORPHA:352665
Brachydactyly, Type A1
Short distal phalanx of finger, Proportionate shortening of all digits, Distal symphalangism of h... OMIM:112500
Smith-Lemli-Opitz Syndrome
Multicystic kidney dysplasia, Postaxial foot polydactyly, Finger syndactyly, Micrognathia, Congen... ORPHA:818
Megaepiphyseal Dwarfism
Cleft palate OMIM:249230
Distal Deletion 15Q
Low-set ears, Small hand, Multicystic kidney dysplasia, Hearing impairment, Genu valgum, Microgna... ORPHA:1596
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 1
Low-set ears, Everted lower lip vermilion, High palate, Anterior open-bite malocclusion, Short no... OMIM:617877
Brachydactyly, Type A3
Rhomboid or triangular shaped 5th finger middle phalanx, Cone-shaped epiphysis, Type A brachydact... OMIM:112700
Microcephaly 4, Primary, Autosomal Recessive
Micrognathia, Thick eyebrow, Hypertelorism, Low hanging columella, Synophrys OMIM:604321
Orofaciodigital Syndrome Type 2
Natal tooth, Finger syndactyly, Short tibia, Velopharyngeal insufficiency, Micrognathia, Broad fi... ORPHA:2751
Keipert Syndrome
Broad distal phalanx of finger, Broad thumb, Clinodactyly, Broad hallux, Downturned corners of mo... OMIM:301026
Symphalangism With Multiple Anomalies Of Hands And Feet
Abnormality of the distal phalanges of the toes, Toe syndactyly, Aplasia/Hypoplasia of the distal... ORPHA:3246
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly
Agenesis of corpus callosum, Talipes equinovarus, Anal atresia, Polycystic kidney dysplasia, Rena... OMIM:613091
Neurodevelopmental Disorder With Dysmorphic Facies And Distal Limb Anomalies
Slender finger, Small hand, Broad nasal tip, Short palpebral fissure, Sandal gap, Broad hallux, L... OMIM:617755
Weiss-Kruszka Syndrome
Low-set ears, Hearing impairment, Ventricular septal defect, Agenesis of corpus callosum, Bicuspi... OMIM:618619
Uvula, Bifid
Bifid uvula OMIM:192100
Phenobarbital Embryopathy
Aplasia/Hypoplasia of fingers, Unilateral cleft lip, Malar flattening, Epicanthus, Brachydactyly,... ORPHA:1919
Orofaciodigital Syndrome Xviii
Wide nasal bridge, Short distal phalanx of finger, Cleft lip, Sandal gap, Diastema, Preaxial poly... OMIM:617927
Brachydactyly-Preaxial Hallux Varus Syndrome
Wide nasal bridge, Broad thumb, Preaxial hand polydactyly, Radial club hand, Micrognathia, Thick ... ORPHA:1278
Burn-Mckeown Syndrome
Wide nasal bridge, Short palpebral fissure, Bilateral choanal atresia, Prominent nasal bridge, Ab... ORPHA:1200
Ventricular Septal Defect 2
Perimembranous ventricular septal defect OMIM:614431
Maxillonasal Dysplasia
Depressed nasal ridge, Depressed nasal bridge, Hypoplasia of the maxilla, Tooth agenesis, Open bi... ORPHA:1248
Cleft Palate, Isolated
Micrognathia, Gingival overgrowth, Anterior open-bite malocclusion, Increased overbite, Cleft palate OMIM:119540
Cardiac Septal Defects With Coarctation Of The Aorta
Coarctation of aorta, Perimembranous ventricular septal defect, Secundum atrial septal defect OMIM:212090
Congenital Laryngomalacia
Non-midline cleft of the upper lip, Cleft palate ORPHA:2373
Cutis Laxa, Autosomal Recessive, Type Iie
Wide nasal bridge, Highly arched eyebrow, Broad nasal tip, Proptosis, Long philtrum, Thick lower ... OMIM:619451
Dislocation Of The Hip-Dysmorphism Syndrome
Wide nasal bridge, Congenital hip dislocation, Depressed nasal ridge, Abnormality of the urinary ... ORPHA:2412
Congenital Heart Defects, Multiple Types, 5
Aortic valve stenosis, Dilated cardiomyopathy, Tetralogy of Fallot, Ventricular septal defect, Bi... OMIM:617912
Potocki-Shaffer Syndrome
Wide nasal bridge, Downturned corners of mouth, Underdeveloped nasal alae, Downslanted palpebral ... OMIM:601224
Lethal Osteosclerotic Bone Dysplasia
Depressed nasal ridge, Retrognathia, Anteverted nares, Gingival overgrowth, Median cleft palate, ... ORPHA:1832
Epilepsy, Nocturnal Frontal Lobe, 1
Focal-onset seizure, Seizure OMIM:600513
Spondylometaphyseal Dysplasia With Corneal Dystrophy
Depressed nasal bridge, Lumbar platyspondyly, Coarse metaphyseal trabecularization, Proptosis, Th... OMIM:618961
Cleft Palate-Lateral Synechia Syndrome
Oral synechia, Micrognathia, Narrow mouth, Everted lower lip vermilion, Cleft palate ORPHA:2016
Cayler Cardiofacial Syndrome
Tetralogy of Fallot, Patent ductus arteriosus, Ventricular septal defect OMIM:125520
Ankyloblepharon Filiforme Adnatum And Cleft Palate
Cleft palate, Cleft upper lip OMIM:106250
Catel-Manzke Syndrome
Highly arched eyebrow, Ventriculomegaly, Abnormal epiphysis morphology, Oral synechia, Camptodact... ORPHA:1388
2q33.1 deletion syndrome
High palate, Cleft palate DECIPHER:51
Ring Chromosome 8 Syndrome
Deviation of finger, Anteverted nares, Abnormal palate morphology, Epicanthus, Short nose ORPHA:1450
Sugarman Brachydactyly
Proximal placement of hallux, Short proximal phalanx of finger, Brachydactyly, Symphalangism affe... OMIM:272150
Acromicric Dysplasia
Cone-shaped epiphysis, Fifth metacarpal with ulnar notch, Long philtrum, Thick lower lip vermilio... OMIM:102370
Whistling Face Syndrome, Recessive Form
Micrognathia, Narrow mouth, Epicanthus, Talipes equinovarus, Short neck, Blepharophimosis, Hypert... OMIM:277720
White Matter Hypoplasia-Corpus Callosum Agenesis-Intellectual Disability Syndrome
Wide nasal bridge, Downslanted palpebral fissures, Micrognathia, Adducted thumb, Hypertelorism, S... ORPHA:3207
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
17P13.3 Microduplication Syndrome
Congenital hip dislocation, Downslanted palpebral fissures, Narrow mouth, Short neck, Hypertelori... ORPHA:217385
Chromosome 16P12.2-P11.2 Deletion Syndrome, 7.1- To 8.7-Mb
Clinodactyly, Micrognathia, Open mouth, Deeply set eye, Epicanthus, Narrow palpebral fissure, Hyp... OMIM:613604
Charlie M Syndrome
Wide nasal bridge, Finger syndactyly, Tooth agenesis, Micrognathia, Narrow mouth, Abnormal metaca... ORPHA:1406
Acromesomelic Dysplasia, Maroteaux Type
Depressed nasal bridge, Kyphosis, Abnormal form of the vertebral bodies, Vertebral wedging, Bowin... ORPHA:40
Non-Distal Duplication 10Q
Depressed nasal bridge, Downslanted palpebral fissures, Micrognathia, Everted lower lip vermilion... ORPHA:1695
Terminal Osseous Dysplasia
Toe clinodactyly, Short toe, Clinodactyly, Camptodactyly of finger, Mesomelic leg shortening, Dep... OMIM:300244
Frontorhiny
Cranium bifidum occultum, Hypoplasia of the maxilla, Finger clinodactyly, Camptodactyly of finger... ORPHA:391474
Pierre Robin Sequence With Facial And Digital Anomalies
Micrognathia, Glossoptosis, Cleft palate, Pierre-Robin sequence OMIM:311895
Cleidorhizomelic Syndrome
Rhizomelia, Bilateral single transverse palmar creases, Brachydactyly, Diaphyseal undertubulation... ORPHA:1453
Digital Arthropathy-Brachydactyly, Familial
Short distal phalanx of finger, Radial deviation of finger, Short middle phalanx of toe, Brachyte... OMIM:606835
Familial Digital Arthropathy-Brachydactyly
Shortening of all middle phalanges of the toes, Short distal phalanx of finger, Shortening of all... ORPHA:85169
Osteochondrodysplasia, Brachydactyly, And Overlapping Malformed Digits
Short distal phalanx of finger, Short thumb, Sandal gap, Broad hallux, Overlapping toe, Overlappi... OMIM:618167
Pierpont Syndrome
Unilateral narrow palpebral fissure, Deeply set eye, Short neck, Everted lower lip vermilion, Ble... OMIM:602342
8P23.1 Microdeletion Syndrome
Low-set ears, Broad thumb, Micrognathia, Congenital diaphragmatic hernia, Epicanthus, High palate... ORPHA:251071
Trigonocephaly 2
Wide nasal bridge, Depressed nasal bridge, Hypertelorism, Downslanted palpebral fissures OMIM:614485
22Q11.2 Duplication Syndrome
Hypoplastic left heart, Depressed nasal ridge, Interrupted aortic arch, Hearing impairment, Downs... ORPHA:1727
Clark-Baraitser Syndrome
Depressed nasal bridge, Sandal gap, Clinodactyly, Downturned corners of mouth, Long philtrum, Ant... OMIM:617752
Acrodysostosis
Open bite, Open mouth, Bowing of the long bones, Epicanthus, Abnormal metacarpal morphology, Abno... ORPHA:950
Frank-Ter Haar Syndrome
Wide nasal bridge, Depressed nasal bridge, Delayed eruption of teeth, Camptodactyly of finger, Do... ORPHA:137834
Epiphyseal Dysplasia-Hearing Loss-Dysmorphism Syndrome
Wide nasal bridge, Depressed nasal bridge, Finger syndactyly, Long philtrum, Anteverted nares, Wi... ORPHA:1825
Hereditary Geniospasm
Chin myoclonus, Abnormal social behavior ORPHA:53372
Facial Palsy, Congenital, With Ptosis And Velopharyngeal Dysfunction
Velopharyngeal insufficiency OMIM:617732
Temtamy Preaxial Brachydactyly Syndrome
Talon cusp, Highly arched eyebrow, Clinodactyly, Diastema, Carpal synostosis, Microdontia, Radiou... OMIM:605282
Cleft Lip/Palate-Intestinal Malrotation-Cardiopathy Syndrome
Hypoplastic left heart, Broad thumb, Intestinal malrotation, Micrognathia, Abnormal aortic morpho... ORPHA:2001
Pfeiffer Syndrome
Wide nasal bridge, Broad thumb, Synostosis of carpal bones, Finger syndactyly, Hypoplasia of the ... ORPHA:710
Microcephaly-Cleft Palate-Abnormal Retinal Pigmentation Syndrome
Bifid uvula, Retrognathia, Micrognathia, Submucous cleft hard palate, Mandibular prognathia, Clef... ORPHA:2521
Chondrodysplasia With Joint Dislocations, Gpapp Type
Wide nasal bridge, Proptosis, Short toe, Genu valgum, Micrognathia, Narrow mouth, Limited elbow e... OMIM:614078
Mmep Syndrome
Ventricular septal defect, Median cleft upper lip, Microcephaly, Orofacial cleft, Mandibular prog... ORPHA:3434
Parc Syndrome
Microretrognathia, Cleft palate OMIM:600331
Clark-Baraitser syndrome
Broad nasal tip, Exaggerated median tongue furrow, Scoliosis, Thick lower lip vermilion, Downslan... OMIM:300602
Hall-Riggs Syndrome
Wide nasal bridge, Platyspondyly, Abnormal epiphysis morphology, Downturned corners of mouth, Del... ORPHA:2107
Macrocephaly-Spastic Paraplegia-Dysmorphism Syndrome
Mandibular prognathia, Thick eyebrow, Deeply set eye, Thin upper lip vermilion, Everted lower lip... ORPHA:2429
Chromosome 20Q11-Q12 Deletion Syndrome
Finger clinodactyly, Tarsal osteovalgus, Deeply set eye, Adducted thumb, Brachydactyly, Hypertelo... OMIM:614257
Thiemann Disease, Familial Form
Abnormal epiphysis morphology, Brachydactyly, Abnormal metaphysis morphology ORPHA:3314
Temtamy Preaxial Brachydactyly Syndrome
Tooth malposition, Clinodactyly of the 2nd finger, Cutaneous finger syndactyly, Micrognathia, Nar... ORPHA:363417
Sprengel Deformity
Cleft palate ORPHA:3181
Microbrachycephaly-Ptosis-Cleft Lip Syndrome
Mandibular prognathia, Cone-shaped epiphysis, Unilateral cleft lip, Narrow nasal bridge, Abnormal... ORPHA:2511
Frontonasal Dysplasia 1
Wide nasal bridge, Bifid nasal tip, Hypoplasia of the maxilla, Broad nasal tip, Joint contracture... OMIM:136760
Cleft Palate, Deafness, And Oligodontia
Agenesis of permanent teeth, Cleft soft palate, Oligodontia of primary teeth OMIM:216300
Intellectual Disability-Facial Dysmorphism-Hand Anomalies Syndrome
Short distal phalanx of finger, Short palpebral fissure, Broad thumb, Short distal phalanx of the... ORPHA:370010
Microphthalmia With Limb Anomalies
Synostosis of joints, Hypoplasia of the premaxilla, Toe syndactyly, Synostosis of carpal bones, S... ORPHA:1106
Night Blindness-Skeletal Anomalies-Dysmorphism Syndrome
Carious teeth, Abnormality of the nose, Retrognathia, Downslanted palpebral fissures, Malar flatt... ORPHA:1390
Ververi-Brady Syndrome
Low-set ears, Broad nasal tip, Cupped ear, Bulbous nose, Prominent nose, Wide mouth, Upslanted pa... OMIM:617982
Cleft Velum
Hypoplasia of the maxilla, Cleft soft palate, Velopharyngeal insufficiency ORPHA:99772
Otopalatodigital Syndrome Type 1
Wide nasal bridge, Short distal phalanx of finger, Depressed nasal bridge, Synostosis of carpal b... ORPHA:90650
Periodontal Ehlers-Danlos Syndrome
Periodontitis, Atrophy of alveolar ridges, Agenesis of permanent teeth, Gingival overgrowth, Prem... ORPHA:75392
Chromosome 22Q11.2 Duplication Syndrome
Depressed nasal ridge, High palate, Micrognathia, Velopharyngeal insufficiency OMIM:608363
Cleft Palate, Cardiac Defects, And Impaired Intellectual Development
Short 5th finger, Secundum atrial septal defect, Cleft upper lip, Tented upper lip vermilion, Ven... OMIM:600987
Hypertelorism And Other Facial Dysmorphism, Brachydactyly, Genital Abnormalities, Impaired Intellectual Development, And Recurrent Inflammatory Episodes
Wide nasal bridge, Small hand, Clinodactyly, Long philtrum, Thick eyebrow, Upslanted palpebral fi... OMIM:614684
Pseudoachondroplasia
Delayed epiphyseal ossification, Hypoplasia of the odontoid process, Genu valgum, Wind-swept defo... ORPHA:750
Orofaciodigital Syndrome Xiv
Low-set ears, Occipital encephalocele, Natal tooth, Micrognathia, Ventricular septal defect, Micr... OMIM:615948
Gingival Fibromatosis-Facial Dysmorphism Syndrome
Depressed nasal bridge, Delayed eruption of teeth, Underdeveloped nasal alae, Downslanted palpebr... ORPHA:2025
Brachydactyly-Mesomelia-Intellectual Disability-Heart Defects Syndrome
Tooth agenesis, Abnormal shoulder morphology, Micrognathia, Abnormal palate morphology, Brachydac... ORPHA:1277
Chung-Jansen Syndrome
Long philtrum, Anteverted nares, Micrognathia, Thick eyebrow, Upslanted palpebral fissure, Deeply... OMIM:617991
Cornelia De Lange Syndrome 2
Highly arched eyebrow, Small hand, Clinodactyly, Downturned corners of mouth, Downslanted palpebr... OMIM:300590
Oculomaxillofacial Dysostosis
Wide nasal bridge, Abnormality of the dentition, Abnormality of the nose, Underdeveloped nasal al... ORPHA:1794
Intellectual Developmental Disorder, Autosomal Recessive 44
Bifid uvula, Depressed nasal bridge, Long philtrum, Anteverted nares, Thin vermilion border OMIM:615942
Spondyloepiphyseal Dysplasia-Brachydactyly And Distinctive Speech
Delayed epiphyseal ossification, Thick upper lip vermilion, Hypoplastic iliac wing, Carpal bone h... OMIM:611717
Coffin-Siris Syndrome 11
Bifid uvula, Depressed nasal bridge, Downturned corners of mouth, Bulbous nose, Cleft soft palate... OMIM:618779
Mitochondrial Complex I Deficiency, Nuclear Type 36
Cardiomegaly, Microcephaly, Perimembranous ventricular septal defect, Periventricular leukomalacia OMIM:619170
Filippi Syndrome
Wide nasal bridge, 2-4 toe syndactyly, Proptosis, Underdeveloped nasal alae, Finger clinodactyly,... OMIM:272440
Spondyloepiphyseal Dysplasia-Craniosynostosis-Cleft Palate-Cataracts-Intellectual Disability Syndrome
Micrognathia, Epicanthus, Short neck, Hypertelorism, Flattened epiphysis, High palate, Flat aceta... ORPHA:163649
Spondyloepiphyseal Dysplasia-Brachydactyly-Speech Disorder Syndrome
Multiple rows of eyelashes, Broad long bones, Thick upper lip vermilion, Abnormal metatarsal morp... ORPHA:163654
Camptodactyly Syndrome, Guadalajara Type 1
Toe syndactyly, Open bite, Narrow mouth, Epicanthus, Blepharophimosis, High palate, Short nose, S... ORPHA:1327
Chromosome 6Q11-Q14 Deletion Syndrome
Broad nasal tip, Long philtrum, Sacral dimple, Micrognathia, Prominent nasal bridge, Upslanted pa... OMIM:613544
Chst3-Related Skeletal Dysplasia
Highly arched eyebrow, Sparse eyebrow, Rhizomelia, Delayed eruption of teeth, Long philtrum, Abno... ORPHA:263463
Orofaciodigital Syndrome Type 14
Postaxial foot polydactyly, Dilated third ventricle, Ventricular septal defect, Patent ductus art... ORPHA:434179
Fatty Acyl-Coa Reductase 1 Deficiency
Depressed nasal bridge, Highly arched eyebrow, Long philtrum, Thin upper lip vermilion, Smooth ph... ORPHA:438178
Chime Syndrome
Abnormality of the outer ear, Hearing impairment, Ventricular septal defect, Epicanthus, Abnormal... ORPHA:3474
Ventricular Septal Defect 1
Tetralogy of Fallot, Atrioventricular canal defect, Ventricular septal defect, Atrial septal defe... OMIM:614429
Nicolaides-Baraitser Syndrome
Abnormal metacarpal morphology, Everted lower lip vermilion, Blepharophimosis, Abnormal finger mo... ORPHA:3051
Craniodigital-Intellectual Disability Syndrome
Finger syndactyly, Long eyelashes, Narrow nasal bridge, Micrognathia, Thick eyebrow, Spina bifida... ORPHA:1514
Ring Chromosome 6 Syndrome
Wide nasal bridge, Short distal phalanx of finger, Epicanthus, Short neck, Hypertelorism ORPHA:1448
Impaired Intellectual Development And Distinctive Facial Features With Or Without Cardiac Defects
Low-set ears, Depressed nasal bridge, Clinodactyly, Bulbous nose, Open mouth, Upslanted palpebral... OMIM:616789
Brachydactyly, Type A1, B
Short distal phalanx of finger, Radial deviation of finger, Clinodactyly, Type A brachydactyly, S... OMIM:607004
Leri Pleonosteosis
Short palpebral fissure, Broad thumb, Abnormal epiphysis morphology, Elbow dislocation, Abnormal ... ORPHA:2900
Codas Syndrome
Congenital hip dislocation, Abnormal pelvic girdle bone morphology, Depressed nasal bridge, Abnor... ORPHA:1458
Neurodevelopmental Disorder With Structural Brain Anomalies And Dysmorphic Facies
Wide nasal bridge, Proptosis, Clinodactyly, Long philtrum, Anteverted nares, Micrognathia, Long e... OMIM:618577
Spondylometaphyseal Dysplasia, Type A4
Platyspondyly, Hypoplasia of the capital femoral epiphysis, Metaphyseal sclerosis, Sclerotic hume... OMIM:609052
Summitt Syndrome
Depressed nasal ridge, Finger syndactyly, Camptodactyly of finger, Genu valgum, Short 4th metacar... ORPHA:3210
Intellectual Developmental Disorder, X-Linked 90
Bifid uvula, High palate, Malar flattening OMIM:300850
Congenital Heart Defects, Multiple Types, 6
Total anomalous pulmonary venous return, Secundum atrial septal defect, Hypoplastic pulmonary vei... OMIM:613854
Terminal Osseous Dysplasia-Pigmentary Defects Syndrome
Clinodactyly, Depressed nasal tip, Accessory oral frenulum, Epicanthus, Brachydactyly, Osteolysis... ORPHA:88630
Even-Plus Syndrome
Epiphyseal dysplasia, Highly arched eyebrow, Renal hypoplasia, Depressed nasal ridge, Bifid nasal... OMIM:616854
Braddock-Carey Syndrome 1
Small hand, Multicystic kidney dysplasia, Clinodactyly, Ventricular septal defect, Agenesis of co... OMIM:619980
Arthrogryposis, Distal, Type 2E
Micrognathia, Narrow mouth, Microcephaly, Trismus, Mild microcephaly OMIM:121070
Monosomy 5P
Wide nasal bridge, Small hand, Microretrognathia, Finger syndactyly, Downslanted palpebral fissur... ORPHA:281
20Q11.2 Microdeletion Syndrome
Finger clinodactyly, Deeply set eye, Adducted thumb, Brachydactyly, Hypertelorism, Camptodactyly,... ORPHA:444051
Joubert Syndrome 18
Occipital encephalocele, Retrognathia, Horseshoe kidney, Trident pelvis, Ventricular septal defec... OMIM:614815
Diabetic Embryopathy
Spinal dysraphism, Hearing impairment, Tetralogy of Fallot, Low-set, posteriorly rotated ears, Mi... ORPHA:1926
Cleft Soft Palate
Cleft soft palate OMIM:119570
Arthrogryposis, Distal, Type 2B2
Sandal gap, Broad hallux, Short toe, Clinodactyly, Ulnar deviation of the wrist, Overlapping fing... OMIM:618435
Gand Syndrome
Wide nasal bridge, Broad nasal tip, Deeply set eye, Thin upper lip vermilion, Long toe, Hypertelo... OMIM:615074
Brachydactyly, Type D
Broad distal phalanx of the thumb, Broad distal phalanx of the hallux, Type D brachydactyly OMIM:113200
Hemifacial Hyperplasia With Strabismus
Submucous cleft hard palate OMIM:141350
Mitochondrial Myopathy And Sideroblastic Anemia
High palate, Micrognathia, Long philtrum, Short nose ORPHA:2598
Orofaciodigital Syndrome Iii
Low-set ears, Bifid uvula, Postaxial foot polydactyly, Bulbous nose, Microdontia, Short sternum, ... OMIM:258850
Cranioectodermal Dysplasia
Short distal phalanx of finger, Abnormality of the dentition, Rhizomelia, Finger syndactyly, Abno... ORPHA:1515
Noonan Syndrome-Like Disorder With Loose Anagen Hair
Carious teeth, Thick lower lip vermilion, Anteverted nares, Abnormal palate morphology, Epicanthu... ORPHA:2701
Hydrocephalus-Costovertebral Dysplasia-Sprengel Anomaly Syndrome
Wide nasal bridge, Depressed nasal bridge, Sandal gap, Abnormal form of the vertebral bodies, Abn... ORPHA:2180
Intellectual Developmental Disorder, Autosomal Recessive 64
Reduced social reciprocity, Seizure OMIM:618103
14Q24.1Q24.3 Microdeletion Syndrome
Wide nasal bridge, Short thumb, Long philtrum, Downslanted palpebral fissures, Prominent nasal br... ORPHA:401935
Intellectual Disability, Wolff Type
Wide nasal bridge, Short distal phalanx of finger, Broad thumb, Microretrognathia, Camptodactyly ... ORPHA:3080
Brachydactyly, Type A4
Short middle phalanx of the 5th finger, Aplasia of the middle phalanges of the toes, Short middle... OMIM:112800
Oculodentodigital Dysplasia, Autosomal Recessive
Fifth finger distal phalanx clinodactyly, Small hand, Broad long bones, Micrognathia, Narrow mout... OMIM:257850
Weyers Acrofacial Dysostosis
Conical tooth, Postaxial foot polydactyly, Hypotelorism, Solitary median maxillary central inciso... OMIM:193530
Intellectual Developmental Disorder, Autosomal Recessive 45
Wide nasal bridge, Highly arched eyebrow, Retrognathia, Downslanted palpebral fissures, Bulbous n... OMIM:615979
Brachytelephalangy-Dysmorphism-Kallmann Syndrome
Short distal phalanx of finger, Anosmia, Hypoplasia of the zygomatic bone, Telecanthus, Genu valg... ORPHA:1295
Marshall-Smith Syndrome
Low-set ears, Hypoplasia of the odontoid process, Bilateral conductive hearing impairment, Hearin... OMIM:602535
Pde4D Haploinsufficiency Syndrome
Micrognathia, Prominent nasal tip, Broad phalanx, Bilateral coxa valga, Narrow palpebral fissure,... ORPHA:439822
Symptomatic Form Of Coffin-Lowry Syndrome In Female Carriers
Downslanted palpebral fissures, Anodontia, Oligodontia, Tapered finger, Everted lower lip vermili... ORPHA:276630
Neurodevelopmental Disorder With Intention Tremor, Pyramidal Signs, Dyspraxia, And Ocular Anomalies
Wide nasal bridge, Depressed nasal bridge, Broad nasal tip, Lateral ventricle dilatation, Lower l... OMIM:619995
Holzgreve Syndrome
Aplasia/Hypoplasia of the tongue, Macrotia, Low-set, posteriorly rotated ears, Joint stiffness, A... ORPHA:2167
Nabais Sa-De Vries Syndrome, Type 1
Depressed nasal bridge, Highly arched eyebrow, Downslanted palpebral fissures, Sacral dimple, Bul... OMIM:618828
Microcephaly, Facial Dysmorphism, Renal Agenesis, And Ambiguous Genitalia Syndrome
Low-set ears, Overlapping toe, Overlapping fingers, Micrognathia, Ventricular septal defect, Agen... OMIM:618142
Robinow Syndrome, Autosomal Recessive 2
Broad thumb, Clinodactyly, Cleft soft palate, Micrognathia, Hypertelorism, Short nose, Broad nasa... OMIM:618529
Thoc6-Related Developmental Delay-Microcephaly-Facial Dysmorphism Syndrome
Abnormality of the dentition, Carious teeth, Dental malocclusion, Velopharyngeal insufficiency, R... ORPHA:363444
Desbuquois Dysplasia 1
Radial deviation of the 2nd finger, Narrow mouth, Broad first metatarsal, Talipes equinovarus, Sh... OMIM:251450
Deafness, Onychodystrophy, Osteodystrophy, Impaired Intellectual Development, And Seizures Syndrome
Low-set ears, Hearing impairment, Open mouth, Long thumb, Ventricular septal defect, Sensorineura... OMIM:220500
Epiphyseal Dysplasia, Multiple, 4
Epiphyseal dysplasia, Limited elbow flexion, Hypoplasia of the femoral head, Talipes equinovarus,... OMIM:226900
Deafness-Craniofacial Syndrome
Wide nasal bridge, Abnormality of the dentition, Underdeveloped nasal alae, Short lingual frenulu... ORPHA:3241
Intellectual Developmental Disorder, Autosomal Dominant 26
Micrognathia, Narrow mouth, Epicanthus, Prominent nasal tip, Hypertelorism, Short palpebral fissu... OMIM:615834
Otopalatodigital Syndrome, Type I
Toe syndactyly, Synostosis of carpal bones, Narrow mouth, Absent frontal sinuses, Short hallux, H... OMIM:311300
Tetralogy Of Fallot
Proptosis, Abnormal nasal morphology, Brachydactyly, Thin vermilion border, Clinodactyly of the 5... ORPHA:3303
Cenani-Lenz Syndrome
Toe syndactyly, Synostosis of carpal bones, Finger syndactyly, Elbow dislocation, Radioulnar syno... ORPHA:3258
Intellectual Developmental Disorder, X-Linked, Syndromic, Stocco Dos Santos Type
Depressed nasal bridge, Small hand, Kyphosis, Epicanthus, Talipes equinovarus, Hypertelorism, Sho... OMIM:300434
2q37 monosomy
Thin upper lip vermilion, Brachydactyly, Deeply set eye DECIPHER:44
Trisomy 17P
Aortic valve stenosis, Low-set ears, Hearing impairment, Micrognathia, Narrow mouth, Low posterio... ORPHA:261290
3Mc Syndrome 2
Hypoplasia of the musculature, Caudal appendage, Hearing impairment, Limited elbow movement, Prom... OMIM:265050
Odontochondrodysplasia
Platyspondyly, Depressed nasal bridge, Dentinogenesis imperfecta, Cone-shaped epiphysis, Square p... ORPHA:166272
Viss Syndrome
Low-set ears, Iliac artery aneurysm, Aortic root aneurysm, Tortuous cerebral arteries, Exostosis ... OMIM:619472
Trichorhinophalangeal Syndrome, Type Iii
Cone-shaped epiphyses of the middle phalanges of the hand, Dental crowding, Sparse lateral eyebro... OMIM:190351
Recombinant Chromosome 8 Syndrome
Abnormality of the dentition, Downturned corners of mouth, Cerebral atrophy, Thick lower lip verm... OMIM:179613
Mitochondrial Complex I Deficiency, Nuclear Type 39
Hypertrophic cardiomyopathy, Dysplastic corpus callosum, Cardiomegaly, Perimembranous ventricular... OMIM:620135
Long Qt Syndrome 16
Patent ductus arteriosus after birth at term, Perimembranous ventricular septal defect OMIM:618782
Hypochondroplasia
Depressed nasal bridge, Flared metaphysis, Lumbar hyperlordosis, Trident hand, Malar flattening, ... OMIM:146000
Diabetes Insipidus, Neurohypophyseal
Hypertelorism, Long philtrum, Short nose, Wide nose OMIM:125700
Robinow Syndrome, Autosomal Dominant 2
Broad thumb, Clinodactyly, Cleft soft palate, Micrognathia, Hypertelorism, Short nose, Oligodonti... OMIM:616331
Bencze Syndrome
Open bite, Submucous cleft hard palate ORPHA:1241
Nephrosis With Deafness And Urinary Tract And Digital Malformations
Bifid uvula OMIM:256200
Fraser Syndrome
Abnormality of the outer ear, Toe syndactyly, Finger syndactyly, Atresia of the external auditory... ORPHA:2052
Nemaline Myopathy 9
High palate, Micrognathia, Cleft palate, Ventricular septal defect OMIM:615731
Intellectual Disability-Expressive Aphasia-Facial Dysmorphism Syndrome
Abnormal social behavior, Seizure ORPHA:436151
Aorta Coarctation
Hypoplastic left heart, Tetralogy of Fallot, Coronary artery atherosclerosis, Cardiomegaly, Bicus... ORPHA:1457
Orofaciodigital Syndrome Xix
Toe syndactyly, Postaxial foot polydactyly, Carious teeth, Cleft soft palate, Narrow mouth, Epica... OMIM:620107
Liang-Wang Syndrome
Wide nasal bridge, Macrodontia of permanent maxillary central incisor, Downturned corners of mout... OMIM:618729
3Q13 Microdeletion Syndrome
Wide nasal bridge, Long philtrum, Anteverted nares, Epicanthus, Abnormality of the hand, Short ne... ORPHA:1621
Neurodevelopmental Disorder With Hypotonia, Stereotypic Hand Movements, And Impaired Language
Depressed nasal bridge, Downturned corners of mouth, Anteverted nares, Upslanted palpebral fissur... OMIM:613443
Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Impaired Intellectual Development, And Ear Anomalies Syndrome
Joint contracture of the hand, Clinodactyly, Broad 2nd toe, Open mouth, Ventricular septal defect... OMIM:280000
Fetal Valproate Spectrum Disorder
Depressed nasal ridge, Downturned corners of mouth, Long philtrum, Narrow mouth, Epicanthus, Thin... ORPHA:1906
Neu-Laxova Syndrome 1
Low-set ears, Joint contracture of the hand, Toe syndactyly, Finger syndactyly, Clinodactyly, Mic... OMIM:256520
Multiple Epiphyseal Dysplasia, Al-Gazali Type
Delayed epiphyseal ossification, Wide nasal bridge, Abnormal vertebral morphology, Clinodactyly, ... ORPHA:166024
Craniosynostosis-Hydrocephalus-Arnold-Chiari Malformation Type I-Radioulnar Synostosis Syndrome
Low-set ears, Toe syndactyly, Micrognathia, Bowing of the long bones, Radioulnar synostosis, Blep... ORPHA:171839
Pfeiffer Syndrome
Choanal atresia, Shortening of all middle phalanges of the fingers, Broad thumb, 3-4 toe cutaneou... OMIM:101600
Verheij Syndrome
Short 5th finger, Wide nasal bridge, Renal hypoplasia, Broad nasal tip, Clinodactyly, Branchial c... OMIM:615583
20P13 Microdeletion Syndrome
Highly arched eyebrow, Finger syndactyly, Clinodactyly, Downslanted palpebral fissures, Telecanth... ORPHA:313781
Familial Scaphocephaly Syndrome, Mcgillivray Type
Toe syndactyly, Open bite, Upslanted palpebral fissure, Hypertelorism, High palate, Mandibular pr... ORPHA:168624
Mosaic Trisomy 1
Low-set ears, Hand clenching, Toe syndactyly, Lateral ventricle dilatation, Broad 2nd toe, Congen... ORPHA:1692
Mesomelic Limb Shortening And Bowing
Retrognathia, Mesomelic leg shortening, Micrognathia, Mesomelic arm shortening, Cleft palate OMIM:249710
Bifid Uvula
Bifid uvula, Cleft lip, Submucous cleft soft palate ORPHA:99771
Simpson-Golabi-Behmel Syndrome, Type 1
Broad thumb, Exaggerated median tongue furrow, Hearing impairment, Supernumerary nipple, Congenit... OMIM:312870
Muenke Syndrome
Broad thumb, Dental malocclusion, Clinodactyly, Short middle phalanx of toe, Radial deviation of ... OMIM:602849
Sandestig-Stefanova Syndrome
Retrognathia, Muscular ventricular septal defect, Hypoplasia of the corpus callosum, Perimembrano... OMIM:618804
Progressive Spondyloepimetaphyseal Dysplasia-Short Stature-Short Fourth Metatarsals-Intellectual Disability Syndrome
Overlapping toe, Genu valgum, Carpal bone hypoplasia, Epicanthus, Short neck, Thoracolumbar scoli... ORPHA:457395
Brachydactyly, Type A2, With Microcephaly
Clinodactyly of the 2nd toe, Thumbs hypoplastic with bulbous tips, Type A2 brachydactyly, Absent ... OMIM:211369
Microphthalmia With Limb Anomalies
Flared nostrils, Toe syndactyly, Postaxial foot polydactyly, Talipes equinovarus, Blepharophimosi... OMIM:206920
Temtamy Syndrome
Short toe, Thick lower lip vermilion, Telecanthus, Micrognathia, Abnormal palate morphology, Brac... ORPHA:1777
Short-Rib Thoracic Dysplasia 16 With Or Without Polydactyly
Wide nasal bridge, Angel-shaped phalanx, Short distal phalanx of finger, Depressed nasal bridge, ... OMIM:617102
Mesomelia-Synostoses Syndrome
Synostosis of joints, Synostosis of carpal bones, Hearing impairment, Aplasia/Hypoplasia of the u... ORPHA:2496
Porencephaly, Cerebellar Hypoplasia, And Internal Malformations
Tetralogy of Fallot, Situs inversus totalis, Porencephalic cyst, Cerebellar hypoplasia, Atrial se... OMIM:601322
Short Rib-Polydactyly Syndrome, Verma-Naumoff Type
Abnormal pelvis bone ossification, Micrognathia, Agenesis of corpus callosum, Epicanthus, Dandy-W... ORPHA:93271
Miller-Dieker Syndrome
Sacral dimple, Anteverted nares, Abnormal upper lip morphology, Epicanthus, Clinodactyly of the 5... ORPHA:531
Crouzon Syndrome-Acanthosis Nigricans Syndrome
Choanal atresia, Hypoplasia of the maxilla, Proptosis, Abnormal form of the vertebral bodies, Mal... ORPHA:93262
Trigonocephaly 1
Wide nasal bridge, High, narrow palate, Lumbar hemivertebrae, Long philtrum, Upslanted palpebral ... OMIM:190440
Ruvalcaba Syndrome
Small hand, Cone-shaped epiphysis, Synostosis of carpal bones, Dental crowding, Micromelia, Downs... ORPHA:3121
Metatropic Dysplasia
Epiphyseal dysplasia, Hypoplasia of the odontoid process, Caudal appendage, Genu valgum, Flat ace... OMIM:156530
Spondylomegaepiphyseal Dysplasia With Upper Limb Mesomelia, Punctate Calcifications, And Deafness
Platyspondyly, Scoliosis, Hypoplastic iliac wing, Enlarged epiphyses of the phalanges of the hand... OMIM:609616
Faciocardiomelic Syndrome
Depressed nasal bridge, Dental malocclusion, Slender long bone, Hyperplasia of the maxilla, Long ... OMIM:612731
Otospondylomegaepiphyseal Dysplasia, Autosomal Dominant
Depressed nasal bridge, Anteverted nares, Malar flattening, Cleft palate, Pierre-Robin sequence OMIM:184840
Vitamin K Antagonist Embryofetopathy
Short distal phalanx of finger, Choanal atresia, Depressed nasal bridge, Proptosis, Anteverted na... ORPHA:1914
Craniofrontonasal Dysplasia
Wide nasal bridge, Depressed nasal ridge, Abnormality of the dentition, Finger syndactyly, Sandal... ORPHA:1520
Distal Deletion 1Q
Aplasia/Hypoplasia of the corpus callosum, Micrognathia, Microcephaly, Smooth philtrum, Thin verm... ORPHA:36367
Congenital Absence Of Upper Arm And Forearm With Hand Present
Renal agenesis, Abnormal heart morphology, Abnormal hip bone morphology, Polydactyly, Upper limb ... ORPHA:294975
9q subtelomeric deletion syndrome
Anteverted nares, Protruding tongue, Short nose DECIPHER:52
Neurodevelopmental Disorder With Dysmorphic Facies And Distal Skeletal Anomalies
Micrognathia, Narrow mouth, Epicanthus, Hypertelorism, Cone-shaped epiphysis, Short toe, Downslan... OMIM:618659
Cornelia De Lange Syndrome 4 With Or Without Midline Brain Defects
Velopharyngeal insufficiency, Radioulnar synostosis, Vertebral clefting, Hypertelorism, Short nos... OMIM:614701
Trisomy 9P
Dental crowding, Downturned corners of mouth, Kyphosis, Downslanted palpebral fissures, Impacted ... ORPHA:236
Roifman Syndrome
Epiphyseal dysplasia, Prominent eyelashes, Short toe, Underdeveloped nasal alae, Downturned corne... ORPHA:353298
Intellectual Developmental Disorder With Language Impairment And With Or Without Autistic Features
Broad nasal tip, Retrognathia, Downslanted palpebral fissures, Open mouth, Malar flattening, Hype... OMIM:613670
Non-Syndromic Bicoronal Craniosynostosis
Proptosis, Brachydactyly, Metacarpal synostosis, Hypertelorism ORPHA:35099
Multiple Synostoses Syndrome
Broad thumb, Cone-shaped epiphysis, Bilateral single transverse palmar creases, Brachydactyly, Sh... ORPHA:3237
Van Der Woude Syndrome 1
Bifid uvula, Cleft upper lip, Lower lip pit, Hypodontia, Cleft palate OMIM:119300
Rhizomelic Syndrome, Urbach Type
Short distal phalanx of finger, Depressed nasal bridge, Rhizomelia, Abnormal epiphysis morphology... ORPHA:3098
Suleiman-El-Hattab Syndrome
Low-set ears, Palpebral thickening, Clinodactyly, Hearing impairment, Ventricular septal defect, ... OMIM:618950
Sillence Syndrome
Abnormal vertebral morphology, Broad thumb, Intervertebral disk degeneration, Epicanthus, Flat ac... ORPHA:3168
Peroxisome Biogenesis Disorder 6A (Zellweger)
Wide nasal bridge, Low-set ears, Epiphyseal stippling, Neonatal death, Renal cyst, Colpocephaly OMIM:614870
Congenital Heart Defects, Multiple Types, 4
Aortic valve stenosis, Hypoplastic left heart, Tetralogy of Fallot, Atrioventricular canal defect... OMIM:615779
Orofaciodigital Syndrome Xi
Wide nasal bridge, Bulbous nose, Cleft palate OMIM:612913
Intellectual Developmental Disorder With Speech Delay And Dysmorphic Facies
Anteverted nares, Wide mouth, Exaggerated cupid's bow, Epicanthus, Thick vermilion border, Clinod... OMIM:618506
Weaver-Williams Syndrome
Narrow mouth, Cleft palate ORPHA:3448
Short Stature-Wormian Bones-Dextrocardia Syndrome
Wide nasal bridge, Delayed eruption of teeth, Camptodactyly of finger, Tooth agenesis, Downslante... ORPHA:2863
Roifman Syndrome
Prominent eyelashes, Short toe, Underdeveloped nasal alae, Downturned corners of mouth, Long phil... OMIM:616651
Brachydactyly Type A2
Aplasia/Hypoplasia of the middle phalanx of the 2nd finger, Short middle phalanx of finger, Type ... ORPHA:93396
Char Syndrome
Highly arched eyebrow, Broad nasal tip, Thick eyebrow, Triangular mouth, Ptosis, Hypertelorism, C... OMIM:169100
Jackson-Weiss Syndrome
Hypoplasia of the maxilla, Toe syndactyly, Proptosis, Preaxial foot polydactyly, Abnormal palate ... ORPHA:1540
Burn-Mckeown Syndrome
Hearing impairment, Bilateral choanal atresia/stenosis, Micrognathia, Narrow mouth, Ventricular s... OMIM:608572
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type
Low-set ears, Large fleshy ears, Decreased fibular diameter, Micrognathia, Ventricular septal def... OMIM:616897
Craniometaphyseal Dysplasia, Autosomal Recessive
Wide nasal bridge, Depressed nasal ridge, Mandibular prognathia, Flared metaphysis, Nasal congest... OMIM:218400
Greig Cephalopolysyndactyly Syndrome
Joint contracture of the hand, Broad thumb, Postaxial foot polydactyly, Agenesis of corpus callos... OMIM:175700
Femoral-Facial Syndrome
Aplasia/Hypoplasia of the tibia, Low-set ears, Micrognathia, Renal hypoplasia/aplasia, Talipes eq... ORPHA:1988
Lowry-Maclean Syndrome
Abnormal heart morphology, Microcephaly, Delayed eruption of teeth, Cleft palate OMIM:600252
Keipert Syndrome
Short distal phalanx of finger, Broad distal phalanx of finger, Broad thumb, Depressed nasal brid... ORPHA:2662
Radioulnar Synostosis-Developmental Delay-Hypotonia Syndrome
Abnormality of the dentition, Multicystic kidney dysplasia, Carious teeth, Prominent nose, Promin... ORPHA:3270
Emery-Nelson Syndrome
Depressed nasal bridge, Long philtrum, Camptodactyly of finger, Interphalangeal thumb joint contr... ORPHA:1927
Agammaglobulinemia 5, Autosomal Dominant
Epicanthus, High palate, Hypertelorism OMIM:613506
Spondyloepimetaphyseal Dysplasia, Faden-Alkuraya Type
Overlapping toe, Carpal bone hypoplasia, Epicanthus, Short neck, Thoracolumbar scoliosis, Hyperte... OMIM:616723
Facial Paresis, Hereditary Congenital, 3
Depressed nasal bridge, Downturned corners of mouth, Anteverted nares, Micrognathia, Open mouth, ... OMIM:614744
5Q14.3 Microdeletion Syndrome
Toe syndactyly, Anteverted nares, Thick eyebrow, Open mouth, Upslanted palpebral fissure, Deeply ... ORPHA:228384
Snijders Blok-Campeau Syndrome
Widely spaced teeth, Taurodontia, Perimembranous ventricular septal defect, Enamel hypoplasia, At... OMIM:618205
Carpenter Syndrome 2
Low-set ears, Broad thumb, Carious teeth, Supernumerary nipple, Narrow naris, Cutaneous finger sy... OMIM:614976
Acrofrontofacionasal Dysostosis
Short distal phalanx of finger, Broad thumb, Abnormal epiphysis morphology, Broad nasal tip, Micr... ORPHA:1784
Hypochondroplasia
Abnormal pelvic girdle bone morphology, Short toe, Micromelia, Abnormal form of the vertebral bod... ORPHA:429
Spondyloperipheral Dysplasia
Broad thumb, Absent styloid process of ulna, Short neck, Flat acetabular roof, Short distal phala... OMIM:271700
Liebenberg Syndrome
Elbow flexion contracture, Joint contracture of the 5th finger, Radially deviated wrists, 2-3 fin... OMIM:186550
Gombo Syndrome
Brachydactyly, Radial deviation of finger, Clinodactyly OMIM:233270
Aminopterin Syndrome Sine Aminopterin
Highly arched eyebrow, Joint contracture of the hand, Short thumb, Clinodactyly, Micrognathia, Ol... OMIM:600325
Multinucleated Neurons, Anhydramnios, Renal Dysplasia, Cerebellar Hypoplasia, And Hydranencephaly
Low-set ears, Neonatal death, Talipes equinovarus, Narrow palpebral fissure, Renal dysplasia, Ure... OMIM:236500
Intellectual Developmental Disorder, Autosomal Dominant 44, With Microcephaly
Micrognathia, Epicanthus, Hypertelorism, High palate, Short nose, Downslanted palpebral fissures,... OMIM:617061
16P13.11 Microduplication Syndrome
Tetralogy of Fallot, Ventricular septal defect, Arachnodactyly, Joint hypermobility, Hand polydac... ORPHA:261243
Pallister-Hall-Like Syndrome
Depressed nasal bridge, Toe syndactyly, Postaxial foot polydactyly, Micromelia, Occipital encepha... OMIM:241800
Isolated Childhood Apraxia Of Speech
High, narrow palate, Submucous cleft hard palate ORPHA:209908
Nephrosis-Deafness-Urinary Tract-Digital Malformations Syndrome
Bifid uvula ORPHA:2669
Childhood Disintegrative Disorder
Mental deterioration, Seizure, Reduced social reciprocity, Motor deterioration, Social and occupa... ORPHA:168782
Brachydactyly, Type B1
Joint contracture of the hand, Broad thumb, Hypoplastic sacrum, Cutaneous finger syndactyly, Type... OMIM:113000
Temple-Baraitser Syndrome
Short distal phalanx of finger, Depressed nasal bridge, Broad thumb, Broad hallux, Downturned cor... OMIM:611816
Skeletal Dysplasia-Epilepsy-Short Stature Syndrome
Short distal phalanx of finger, Abnormality of the dentition, Dental malocclusion, Hypoplastic il... ORPHA:1858
Marshall Syndrome
Radial bowing, Thick upper lip vermilion, Micrognathia, Absent frontal sinuses, Epicanthus, Small... OMIM:154780
Anauxetic Dysplasia 2
Posterior wedging of vertebral bodies, Hypoplasia of the femoral head, Ovoid vertebral bodies, Hy... OMIM:617396
Isolated Dandy-Walker Malformation
Tetralogy of Fallot, Cleft palate, Dandy-Walker malformation, Aplasia/Hypoplasia of the corpus ca... ORPHA:217
Vacterl Association, X-Linked, With Or Without Hydrocephalus
Atrioventricular canal defect, Short humerus, Neonatal death, Hydronephrosis, Persistent left sup... OMIM:314390
Tetrasomy 12P
Sparse eyebrow, Downturned corners of mouth, Delayed eruption of teeth, Long philtrum, Thick uppe... ORPHA:884
Wiedemann-Steiner Syndrome
Low-set ears, Small hand, Recurrent otitis media, Long hallux, Contracture of the distal interpha... OMIM:605130
Metaphyseal Dysplasia Without Hypotrichosis
Abnormal pelvic girdle bone morphology, Metaphyseal cupping of metacarpals, Abnormality of the ve... OMIM:250460
Carey-Fineman-Ziter Syndrome 2
High, narrow palate, Dental crowding, Velopharyngeal insufficiency, Long philtrum, Downturned cor... OMIM:619941
Coloboma Of Macula-Brachydactyly Type B Syndrome
Short distal phalanx of finger, Broad thumb, Type B brachydactyly, Camptodactyly of finger ORPHA:1471
Trisomy 4P
Depressed nasal bridge, Abnormality of the dentition, Carious teeth, Camptodactyly of finger, Rad... ORPHA:1738
Split-Foot Deformity With Mandibulofacial Dysostosis
Micrognathia, Malar flattening, Cleft palate OMIM:183700
Microcephaly, Congenital Heart Disease, Unilateral Renal Agenesis, And Hyposegmented Lungs
Short distal phalanx of finger, Hydranencephaly, Truncus arteriosus, Ventricular septal defect, M... OMIM:601355
Female Restricted Epilepsy With Intellectual Disability
Generalized non-motor (absence) seizure, Febrile seizure (within the age range of 3 months to 6 y... ORPHA:101039
Zechi-Ceide Syndrome
Low-set ears, Abnormal helix morphology, Abnormal earlobe morphology, Atrial septal defect, Narro... ORPHA:217017
Distal Deletion 10Q
Low-set ears, Abnormality of the outer ear, Clinodactyly, Lateral ventricle dilatation, Micrognat... ORPHA:96148
Ritscher-Schinzel Syndrome 1
Aortic valve stenosis, Hypoplastic left heart, Tetralogy of Fallot, Micrognathia, Ventricular sep... OMIM:220210
Otospondylomegaepiphyseal Dysplasia
Epiphyseal dysplasia, Abnormal vertebral morphology, Fibular bowing, Micrognathia, Short neck, Ab... ORPHA:1427
Brachydactyly Type C
Ulnar deviation of finger, Cone-shaped epiphysis, Stippling of the epiphysis of the distal phalan... ORPHA:93384
Feingold Syndrome 2
Short thumb, Secondary microcephaly, Short middle phalanx of the 2nd finger, Ventricular septal d... OMIM:614326
Beta-Mercaptolactate Cysteine Disulfiduria
Hypoplasia of the ear cartilage, Micromelia, Sandal gap, Umbilical hernia, Low-set, posteriorly r... ORPHA:1035
Tricuspid Atresia
Hypoplasia of right ventricle, Patent foramen ovale, Ventricular septal defect, Persistent left s... ORPHA:1209
Primary Ciliary Dyskinesia
Hearing impairment, Atrial situs ambiguous, Recurrent otitis media, Chronic otitis media, Clubbin... ORPHA:244
Omphalocele-Cleft Palate Syndrome, Lethal
Bifid uvula, Cleft palate OMIM:258320
Intellectual Developmental Disorder, Autosomal Recessive 74
Wide nasal bridge, Prominent nose, Brachydactyly, Narrow palate, Mandibular prognathia OMIM:617169
Non-Distal Deletion 10Q
Wide nasal bridge, Overlapping fingers, Upslanted palpebral fissure, Bilateral single transverse ... ORPHA:1581
Blepharocheilodontic Syndrome 2
Conical tooth, Cleft lip, Tooth agenesis, Euryblepharon, Distichiasis, Cutaneous syndactyly, Ectr... OMIM:617681
Robin Sequence-Oligodactyly Syndrome
Micrognathia, Abnormality of the dentition, Glossoptosis, Cleft palate ORPHA:3104
Chondrodysplasia Punctata, Tibia-Metacarpal Type
Depressed nasal ridge, Short 3rd metacarpal, Short tibia, Micromelia, Epiphyseal stippling, Malar... OMIM:118651
Intellectual Developmental Disorder With Cardiac Defects And Dysmorphic Facies
Low-set ears, Overlapping toe, Overlapping fingers, Ventricular septal defect, Atrial septal defe... OMIM:618316
11Q22.2Q22.3 Microdeletion Syndrome
High, narrow palate, Depressed nasal bridge, Small hand, Micrognathia, Thick eyebrow, Bilateral s... ORPHA:444002
Orofacial Cleft 15
Sparse eyebrow, Palate fistula, Bulbous nose, Upslanted palpebral fissure, Single transverse palm... OMIM:616788
Lethal Omphalocele-Cleft Palate Syndrome
Bifid uvula, Unilateral cleft lip, Retrognathia, Cleft soft palate, Cleft palate ORPHA:2736
Spondyloperipheral Dysplasia-Short Ulna Syndrome
Aplasia/hypoplasia involving bones of the extremities, Platyspondyly, Arthralgia of the hip, Broa... ORPHA:1856
Freeman-Sheldon Syndrome
Wide nasal bridge, Depressed nasal ridge, Ulnar deviation of finger, Abnormality of the dentition... ORPHA:2053
Fibrochondrogenesis 2
Platyspondyly, Hypoplastic ilia, Metaphyseal cupping, Anteverted nares, Micrognathia, Malar flatt... OMIM:614524
Feingold Syndrome Type 2
Short thumb, Jejunal atresia, Ventricular septal defect, Microcephaly, Short middle phalanx of fi... ORPHA:391646
Auriculocondylar Syndrome 4
Micrognathia, Glossoptosis, Narrow mouth, Cleft palate OMIM:620457
Metaphyseal Chondrodysplasia, Schmid Type
Abnormal vertebral morphology, Radial metaphyseal irregularity, Genu varum, Irregular vertebral e... ORPHA:174
Acrofacial Dysostosis, Catania Type
Carious teeth, Downslanted palpebral fissures, Prominent nose, Micrognathia, Malar flattening, Si... OMIM:101805
Baraitser-Winter Syndrome 1
Aortic valve stenosis, Low-set ears, Agenesis of corpus callosum, Low posterior hairline, Bicuspi... OMIM:243310
Rubinstein-Taybi Syndrome
Broad thumb, Carious teeth, Finger syndactyly, Micrognathia, Epicanthus, Hypertelorism, High pala... ORPHA:783
Multiple Epiphyseal Dysplasia, Beighton Type
Genu valgum, Intervertebral space narrowing, Reduced proximal interphalangeal joint space, Biconc... ORPHA:166011
Spondyloepimetaphyseal Dysplasia, Isidor-Toutain Type
Enlarged metaphyses, Platyspondyly, Lower-limb metaphyseal irregularity, Irregular femoral epiphy... OMIM:618728
Mucopolysaccharidosis, Type Ix
Depressed nasal bridge, Bifid uvula, Submucous cleft hard palate OMIM:601492
Congenital Unilateral Hypoplasia Of Depressor Anguli Oris
Tooth agenesis, Tetralogy of Fallot, Abnormal hip bone morphology, Micrognathia, Vesicoureteral r... ORPHA:1166
Dysostosis, Stanescu Type
Carious teeth, Bowing of the long bones, Short neck, Hypertelorism, Hypoplasia of the maxilla, Na... ORPHA:1798
8Q12 Microduplication Syndrome
Wide nasal bridge, Highly arched eyebrow, Long philtrum, Telecanthus, Vesicoureteral reflux, Narr... ORPHA:228399
Autism Spectrum Disorder Due To Auts2 Deficiency
Low-set ears, Joint contracture of the hand, Micrognathia, Narrow mouth, Joint contracture of the... ORPHA:352490
Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency
Low-set ears, Clinodactyly, Hearing impairment, Open mouth, Frontal upsweep of hair, Ventricular ... ORPHA:369891
Intellectual Disability And Myopathy Syndrome
Congenital hip dislocation, Broad nasal tip, Dental malocclusion, Scoliosis, Lumbar hyperlordosis... OMIM:619719
Urban-Rogers-Meyer Syndrome
Toe syndactyly, Abnormal epiphysis morphology, Abnormal diaphysis morphology, Camptodactyly of fi... ORPHA:3409
Moebius Syndrome
Hand clenching, Clinodactyly, Congenital fibrosis of extraocular muscles, Micrognathia, Lower lim... OMIM:157900
Juberg-Hayward Syndrome
Abnormal vertebral morphology, Highly arched eyebrow, Toe syndactyly, Short thumb, Abnormal eyebr... ORPHA:2319
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 4
Depressed nasal bridge, Epicanthus, Hypertelorism OMIM:616911
Gillessen-Kaesbach-Nishimura Syndrome
Low-set ears, Frontotemporal hypertrichosis, Retrognathia, Underdeveloped nasal alae, Large flesh... OMIM:263210
Craniofacial-Deafness-Hand Syndrome
Depressed nasal bridge, Hypoplasia of the maxilla, Narrow naris, Downslanted palpebral fissures, ... OMIM:122880
Thakker-Donnai Syndrome
Downturned corners of mouth, Tetralogy of Fallot, Bulbous nose, Anteverted nares, Narrow mouth, C... ORPHA:1780
Neurodevelopmental Disorder With Seizures, Spasticity, And Complete Or Partial Agenesis Of The Corpus Callosum
Micrognathia, Narrow mouth, Short neck, Hypertelorism, Short nose, Downslanted palpebral fissures... OMIM:620250
X-Linked Intellectual Disability, Abidi Type
Prominent nasal bridge, Non-midline cleft of the upper lip, Cleft palate ORPHA:85273
Foxp1 Syndrome
Clinodactyly, Recurrent otitis media, Open mouth, Frontal upsweep of hair, Blepharophimosis, Abno... ORPHA:391372
Chromosome 15Q26-Qter Deletion Syndrome
Wide nasal bridge, Micrognathia, Talipes equinovarus, Brachydactyly, Blepharophimosis, Short midd... OMIM:612626
Spondyloepimetaphyseal Dysplasia, X-Linked, With Hypomyelinating Leukodystrophy
Hypoplasia of the odontoid process, Short neck, Hypertelorism, Flattened epiphysis, High palate, ... OMIM:300232
Multiple Synostoses Syndrome 1
Hypoplastic nasal septum, Carpal synostosis, Thick upper lip vermilion, Cutaneous finger syndacty... OMIM:186500
Trichothiodystrophy 9, Nonphotosensitive
High, narrow palate, Sparse eyebrow, Dental malocclusion, Epicanthus, Brachydactyly OMIM:619692
Ciliary Dyskinesia, Primary, 39
Double outlet right ventricle, Dextrocardia OMIM:618254
Hamel Cerebro-Palato-Cardiac Syndrome
Micrognathia, Narrow mouth, Malar flattening, Microcephaly, Atrial septal defect, Cleft palate ORPHA:93946
Ohdo Syndrome
Wide nasal bridge, Depressed nasal bridge, Sparse eyebrow, Long philtrum, Widely spaced teeth, An... OMIM:249620
Intellectual Developmental Disorder, X-Linked 21
Dental crowding, Tented upper lip vermilion, Open mouth, Upslanted palpebral fissure, Hypertelori... OMIM:300143
Ring Chromosome 14 Syndrome
Depressed nasal bridge, Depressed nasal ridge, Downslanted palpebral fissures, Anteverted nares, ... OMIM:616606
Trisomy 12P
Wide nasal bridge, Proptosis, Downturned corners of mouth, Micrognathia, Thick eyebrow, Malar fla... ORPHA:1699
Pseudoachondroplasia
Delayed epiphyseal ossification, Atlantoaxial dislocation, Hypoplasia of the odontoid process, Ra... OMIM:177170
Contractures, Congenital, Torticollis, And Malignant Hyperthermia
Natal tooth, Abnormal mandible morphology, Cleft palate OMIM:217150
Otopalatodigital Syndrome Type 2
Low-set ears, Synostosis of carpal bones, Elbow dislocation, Hearing impairment, Carpal synostosi... ORPHA:90652
Fallot Complex-Intellectual Disability-Growth Delay Syndrome
Tetralogy of Fallot, Micrognathia, Thin upper lip vermilion, Microcephaly, Overriding aorta, Pers... ORPHA:3304
Conotruncal Heart Malformations
Complete atrioventricular canal defect, Truncus arteriosus, Coarctation of aorta, Transposition o... OMIM:217095
Anauxetic Dysplasia 1
Atlantoaxial dislocation, Hip contracture, Short neck, Hypertelorism, Short foot, Hypoplastic ili... OMIM:607095
Spondylometaphyseal Dysplasia, Kozlowski Type
Delayed epiphyseal ossification, Abnormal ilium morphology, Hypoplasia of the odontoid process, R... ORPHA:93314
Neurodevelopmental Disorder With Dysmorphic Facies And Skeletal And Brain Abnormalities
Clinodactyly of the 2nd toe, Broad thumb, Clinodactyly of the 2nd finger, Micrognathia, Narrow ve... OMIM:620073
Hyperphosphatasia With Impaired Intellectual Development Syndrome 6
Depressed nasal bridge, Osteopenia, Toe syndactyly, Abnormal renal collecting system morphology, ... OMIM:616809
Non-Distal Duplication 13Q
Abnormality of the dentition, Long philtrum, Micrognathia, Thick eyebrow, Hypotelorism, Arachnoda... ORPHA:1702
Nabais Sa-De Vries Syndrome, Type 2
Hypoplastic left heart, Depressed nasal bridge, Multicystic kidney dysplasia, Sparse eyebrow, Low... OMIM:618829
Brachyolmia Type 1, Hobaek Type
Platyspondyly, Short iliac bones, Flattened proximal radial epiphyses, Kyphosis, Squared-off plat... OMIM:271530
Pallister-Hall Syndrome
Toe syndactyly, Postaxial foot polydactyly, Natal tooth, Atresia of the external auditory canal, ... OMIM:146510
Dysraphism-Cleft Lip/Palate-Limb Reduction Defects Syndrome
Hypoplastic left heart, Aplasia/Hypoplasia of the radius, Ventricular septal defect, Ectopic anus... ORPHA:2476
Intellectual Disability, Birk-Barel Type
High, narrow palate, Highly arched eyebrow, Broad nasal tip, Narrow nasal bridge, Micrognathia, O... ORPHA:166108
Malan Syndrome
Ventriculomegaly, Retrognathia, Downslanted palpebral fissures, Gingival overgrowth, Narrow mouth... OMIM:614753
Craniofacial Dysplasia-Short Stature-Ectodermal Anomalies-Intellectual Disability Syndrome
Aortic valve stenosis, Low-set ears, Small hand, Micrognathia, Bilateral single transverse palmar... ORPHA:459061
Aortic Valve Disease 1
Aortic valve stenosis, Aortic valve calcification, Tetralogy of Fallot, Mitral atresia, Mitral st... OMIM:109730
Facial Clefting, Oblique, 1
Tessier number 4 facial cleft, Cleft palate, Cleft upper lip OMIM:600251
Distal Duplication 18Q
Progressive intervertebral space narrowing, Choanal atresia, Carious teeth, Deviation of finger, ... ORPHA:1716
Peroxisome Biogenesis Disorder 12A (Zellweger)
Wide nasal bridge, Abnormality of the hairline, Prominent nose, Abnormal cortical bone morphology... OMIM:614886
3C Syndrome
Aortic valve stenosis, Low-set ears, Finger syndactyly, Micrognathia, Abnormal mitral valve morph... ORPHA:7
Congenital Disorder Of Glycosylation, Type Iig
Low-set ears, Small hand, Shallow acetabular fossae, Lateral ventricle dilatation, Micrognathia, ... OMIM:611209
C Syndrome
Low-set ears, Toe syndactyly, Postaxial foot polydactyly, Clinodactyly, Micrognathia, Thick anter... OMIM:211750
Intellectual Developmental Disorder, Autosomal Dominant 21
Long philtrum, Sacral dimple, Long eyelashes, Narrow mouth, Single transverse palmar crease, Epic... OMIM:615502
Heterotaxy, Visceral, 1, X-Linked
Low-set ears, Posteriorly placed anus, Ventricular septal defect, Atrial septal defect, Dextrocar... OMIM:306955
Fg Syndrome 5
Depressed nasal bridge, Diastema, Long philtrum, Anteverted nares, Upslanted palpebral fissure, E... OMIM:300581
Intellectual Developmental Disorder, Autosomal Dominant 63, With Macrocephaly
Highly arched eyebrow, Scoliosis, Dental crowding, Delayed eruption of teeth, Underdeveloped nasa... OMIM:618825
Joubert Syndrome 14
Low-set ears, Open mouth, Encephalocele, Ventricular septal defect, Epicanthus, Downslanted palpe... OMIM:614424
Microcephaly-Capillary Malformation Syndrome
Low-set ears, Short distal phalanx of finger, Abnormal hair whorl, Hypoplasia of the maxilla, Opt... OMIM:614261
Hyperphosphatasia With Impaired Intellectual Development Syndrome 4
Wide nasal bridge, Broad nasal tip, Tented upper lip vermilion, Upslanted palpebral fissure, Thin... OMIM:615716
Frontonasal Dysplasia-Bifid Nose-Upper Limb Anomalies Syndrome
Wide nasal bridge, Choanal atresia, Bifid nasal tip, Clinodactyly of the 3rd toe, Downturned corn... ORPHA:521308
Cleft Lip/Palate
Hypoplasia of the maxilla, Dental malocclusion, Velopharyngeal insufficiency, Palate fistula, Peg... ORPHA:199306
Ventricular Extrasystoles With Syncope, Perodactyly, And Robin Sequence
Posteriorly placed tongue, Submucous cleft hard palate, Pierre-Robin sequence OMIM:192445
Pentasomy X
Wide nasal bridge, Small hand, Camptodactyly of finger, Micrognathia, Upslanted palpebral fissure... ORPHA:11
Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb
Low-set ears, Broad thumb, Frontal balding, Overlapping toe, Micrognathia, Sensorineural hearing ... OMIM:612474
Anencephaly 2
Median cleft upper lip, Bifid nose, Cleft maxillary alveolar ridge, Median cleft palate OMIM:619452
Spondyloepimetaphyseal Dysplasia, Sponastrime Type
Genu valgum, Narrow vertebral interpedicular distance, Lumbar interpedicular narrowing, Hypertelo... OMIM:271510
Bardet-Biedl Syndrome 7
Depressed nasal bridge, Clinodactyly, Narrow mouth, Malar flattening, Polydactyly, 2-3 toe syndac... OMIM:615984
Orofaciodigital Syndrome Iv
Toe syndactyly, Short tibia, Clinodactyly, Short finger, Hamartoma of tongue, Lobulated tongue, M... OMIM:258860
20P12.3 Microdeletion Syndrome
Wide nasal bridge, Depressed nasal bridge, Ventriculomegaly, Broad thumb, Hypoplasia of the maxil... ORPHA:261295
Mcdonough Syndrome
Short palpebral fissure, Dental malocclusion, Underdeveloped nasal alae, Open bite, Prominent nos... ORPHA:2471
Holzgreve Syndrome
Cleft palate, Cleft upper lip OMIM:236110
Recon Progeroid Syndrome
Dental crowding, Skeletal muscle atrophy, Underdeveloped nasal alae, Anteverted nares, Prominent ... OMIM:620370
Odontochondrodysplasia 1
Flat acetabular roof, Cone-shaped epiphyses of the phalanges of the hand, Genu varum, Short metac... OMIM:184260
Uruguay Faciocardiomusculoskeletal Syndrome
Low-set ears, Ventricular hypertrophy, Joint contracture of the hand, Hyperplasia of the maxilla,... OMIM:300280
Rhiny
Thin vermilion border, Anteverted nares, Short nose OMIM:180360
Stickler Syndrome Type 1
Hypoplasia of the maxilla, Cleft palate, Long philtrum, Short nose ORPHA:90653
Orofaciodigital Syndrome Xv
Wide nasal bridge, Low-set ears, Ventriculomegaly, Midline notch of upper alveolar ridge, Broad h... OMIM:617127
Autosomal Dominant Omodysplasia
Depressed nasal bridge, Rhizomelia, Short 1st metacarpal, Elbow dislocation, Long philtrum, Micro... ORPHA:93328
Triphalangeal Thumbs With Brachyectrodactyly
Triphalangeal thumb, Brachydactyly, Split hand, Short 3rd toe, Short 2nd finger, Split foot OMIM:190680
Waardenburg Syndrome, Type 3
Wide nasal bridge, Joint contracture of the hand, Clinodactyly, Camptodactyly of finger, Carpal s... OMIM:148820
Mosaic Trisomy 14
Wide nasal bridge, Camptodactyly of finger, Anteverted nares, Prominent nasal bridge, Micrognathi... ORPHA:1703
Short Stature, Amelogenesis Imperfecta, And Skeletal Dysplasia With Scoliosis
Carious teeth, Genu valgum, Micrognathia, Hip contracture, Flattened epiphysis, High palate, Adva... OMIM:618363
X-Linked Intellectual Disability-Dysmorphism-Cerebral Atrophy Syndrome
Retrognathia, Finger clinodactyly, Prominent nose, Epicanthus, Ptosis, Hypertelorism, Bilateral t... ORPHA:2958
Ascher Syndrome
Deviation of finger, Abnormal upper lip morphology, Upper eyelid edema, Ptosis, Abnormal eyelid m... ORPHA:1253
Congenital Heart Defect-Round Face-Developmental Delay Syndrome
Depressed nasal ridge, Anteverted nares, Narrow mouth, Abnormal oral cavity morphology, Short nose ORPHA:1355
Spinocerebellar Ataxia, Autosomal Recessive 20
Wide nasal base, Short palpebral fissure, Dental crowding, Clinodactyly, Delayed eruption of teet... OMIM:616354
Spondylometaphyseal Dysplasia, X-Linked
Wide nasal bridge, Depressed nasal bridge, Platyspondyly, Short finger, Hyperextensibility of the... OMIM:313420
Pfeiffer Syndrome Type 1
Depressed nasal bridge, Broad thumb, Toe syndactyly, Finger syndactyly, Proptosis, Aplasia/Hypopl... ORPHA:93258
Craniosynostosis 3
Dental malocclusion, Single transverse palmar crease, Ptosis, Hallux valgus, Brachydactyly OMIM:615314
Chromosome 15Q11-Q13 Duplication Syndrome
Bilateral tonic-clonic seizure, Impaired ability to form peer relationships, Reduced social recip... OMIM:608636
Syndactyly, Type V
Short distal phalanx of finger, Joint contracture of the hand, Carpal synostosis, 3-4 toe syndact... OMIM:186300
Bamforth-Lazarus Syndrome
Choanal atresia, Retrognathia, Cleft palate ORPHA:1226
Tetrasomy 18P
Long philtrum, Downslanted palpebral fissures, Narrow mouth, Epicanthus, Large hands, Thin vermil... ORPHA:3307
Short-Rib Thoracic Dysplasia 2 With Or Without Polydactyly
Rhizomelia, Brachydactyly, Broad palm, Postaxial hand polydactyly, Short foot, Short metacarpal, ... OMIM:611263
Aarskog-Scott Syndrome
Cervical spine hypermobility, Hypoplasia of the odontoid process, Clinodactyly, Short neck, Hyper... OMIM:305400
Trisomy 1Q
Low-set ears, Abnormality of the outer ear, Multicystic kidney dysplasia, Toe syndactyly, Narrow ... ORPHA:261344
Heterotaxy, Visceral, 6, Autosomal
Hypoplastic left heart, Total anomalous pulmonary venous return, Unbalanced atrioventricular cana... OMIM:614779
Congenital Hypotonia, Epilepsy, Developmental Delay, And Digital Anomalies
Low-set ears, Hearing impairment, Recurrent otitis media, Overlapping toe, Overlapping fingers, O... OMIM:618494
Linear Skin Defects With Multiple Congenital Anomalies 2
Ventricular hypertrophy, Highly arched eyebrow, Sandal gap, Long philtrum, Tetralogy of Fallot, N... OMIM:300887
Ectodermal Dysplasia 13, Hair/Tooth Type
Wide nasal bridge, Depressed nasal bridge, Downslanted palpebral fissures, Thin eyebrow, Oligodon... OMIM:617392
Osteoglophonic Dysplasia
Hypoplastic scapulae, Broad thumb, Bowing of the long bones, Short neck, Broad phalanx, Hypertelo... OMIM:166250
Cerebrooculofacioskeletal Syndrome 3
Micrognathia, Agenesis of corpus callosum, Cerebellar hypoplasia, Microcephaly, Cleft palate OMIM:616570
Temple-Baraitser Syndrome
Broad thumb, Everted upper lip vermilion, Long hallux, Open mouth, Epicanthus, Everted lower lip ... ORPHA:420561
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 3
Depressed nasal bridge, Polydactyly, Epicanthus, Hypertelorism, Hypoplastic ischia, Short nose OMIM:616910
Orofaciodigital Syndrome Viii
Bifid nasal tip, Broad nasal tip, Short tibia, Telecanthus, Polydactyly, Median cleft upper lip, ... OMIM:300484
Thumb Stiffness-Brachydactyly-Intellectual Disability Syndrome
Abnormal metacarpal morphology, Abnormal thumb morphology, Type A brachydactyly ORPHA:1078
Perlman Syndrome
Wide nasal bridge, High, narrow palate, Retrognathia, Anteverted nares, Micrognathia, Open mouth,... ORPHA:2849
Anauxetic Dysplasia 3
Broad middle phalanx of finger, Depressed nasal bridge, Metaphyseal cupping, Platyspondyly, Retro... OMIM:618853
Developmental Delay With Or Without Dysmorphic Facies And Autism
Low-set ears, Hearing impairment, Supernumerary nipple, Micrognathia, Congenital diaphragmatic he... OMIM:618454
Peho-Like Syndrome
Retrognathia, Open mouth, Epicanthus, Short nose, Tapered finger OMIM:617507
Oligodontia
Short dental root, Agenesis of mandibular premolar, Abnormality of canine, Peg-shaped maxillary l... ORPHA:99798
Cornelia De Lange Syndrome 5
Small hand, Toe syndactyly, Micrognathia, Deeply set eye, Short neck, Hypertelorism, High palate,... OMIM:300882
Craniosynostosis, Herrmann-Opitz Type
Abnormality of the urethra, Micromelia, Finger syndactyly, Short nose, Micrognathia, Malar flatte... ORPHA:2145
Intellectual Disability-Strabismus Syndrome
Low-set ears, Joint contracture of the hand, Limitation of joint mobility, Hearing impairment, Re... ORPHA:363528
Developmental And Epileptic Encephalopathy 87
Horizontal eyebrow, Widely spaced teeth, Bulbous nose, Prominent nose, Single transverse palmar c... OMIM:618916
Microphthalmia, Syndromic 12
Wide nasal bridge, Broad nasal tip, Retrognathia, Intestinal malrotation, Micrognathia, Neonatal ... OMIM:615524
Chromosome 8Q22.1 Duplication Syndrome
Short palpebral fissure, Broad thumb, Short thumb, Interphalangeal joint contracture of finger, E... OMIM:151200
Atelosteogenesis Type Ii
Wide nasal base, Hypoplastic cervical vertebrae, Elbow dislocation, Genu valgum, Micrognathia, Bi... ORPHA:56304
Coffin-Siris Syndrome 5
Short distal phalanx of finger, Sparse scalp hair, Depressed nasal bridge, Sandal gap, Dystrophic... OMIM:616938
Bryant-Li-Bhoj Neurodevelopmental Syndrome 1
Low-set ears, Broad thumb, Toe syndactyly, Micrognathia, Open mouth, Narrow mouth, Agenesis of co... OMIM:619720
Intellectual Developmental Disorder, Autosomal Recessive 6
Myoclonus, Reduced social reciprocity, Atonic seizure OMIM:611092
Chand Syndrome
Short fifth metatarsal, Depressed nasal bridge, Ankyloblepharon, Hydroureter, Agenesis of permane... ORPHA:1401
Prieto Syndrome
Abnormality of the dentition, Radial deviation of finger, Clinodactyly, Retrognathia, Prominent n... OMIM:309610
Nager Syndrome
Hearing impairment, Atresia of the external auditory canal, Micrognathia, Aplasia/Hypoplasia of t... ORPHA:245
Intellectual Disability-Brachydactyly-Pierre Robin Syndrome