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
Morning myoclonic jerks, Myoclonus, Dementia ORPHA:308
Epilepsy, Progressive Myoclonic, 1B
Atonic seizure, Generalized myoclonic 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
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
Intellectual Developmental Disorder, Autosomal Dominant 10
Seizure OMIM:614256
Encephalitis/Encephalopathy, Mild, With Reversible Myelin Vacuolization
Seizure OMIM:618113
Kifafa Seizure Disorder
Seizure OMIM:245180
Intellectual Developmental Disorder, Autosomal Recessive 10
Seizure OMIM:611096
Brachydactyly, Type C
Pseudoepiphysis of the 2nd finger, Triangular epiphysis of the middle phalanx of the 2nd finger, ... OMIM:113100
Pontocerebellar Hypoplasia, Type 12
Cerebral hypoplasia, Micrognathia, Microcephaly, Cerebellar hypoplasia, Hypoplasia of the brainstem OMIM:618266
17Q21.31 Microduplication Syndrome
High palate, Clinodactyly of the 5th finger, Thick eyebrow, Malar flattening, Abnormality of the ... ORPHA:217340
Genitopalatocardiac Syndrome
Cleft upper lip, Double outlet right ventricle, Cleft palate, Micrognathia, Ventricular septal de... OMIM:231060
Pierre Robin Syndrome
Cleft palate, Glossoptosis, Micrognathia, Cor pulmonale, Pierre-Robin sequence OMIM:261800
Mental Retardation, X-Linked 91
High palate, Small hand, Macrodontia, Short 5th finger, Epicanthus, Short nose, Cubitus valgus, S... OMIM:300577
Autosomal Recessive Robinow Syndrome
Wide mouth, Alopecia, Depressed nasal bridge, Abnormality of the dentition, Short philtrum, Ventr... ORPHA:1507
Tetrasomy X
Clinodactyly of the 5th finger, Upslanted palpebral fissure, Abnormality of the dentition, Brachy... ORPHA:9
Fallot Complex With Severe Mental And Growth Retardation
Double outlet right ventricle, Ventricular septal defect, Pulmonic stenosis, Tetralogy of Fallot OMIM:601127
Cleft Palate-Short Stature-Vertebral Anomalies Syndrome
Cleft palate, Micrognathia, Short neck, Abnormal vertebral morphology, Epicanthus, Short nose, An... ORPHA:2015
Orofaciodigital Syndrome I
High palate, Hydrocephalus, Sparse hair, Cleft palate, Alopecia, Hypothalamic hamartoma, Ovarian ... OMIM:311200
14Q11.2 Microdeletion Syndrome
High palate, Narrow mouth, Deeply set eye, Toe clinodactyly, Everted lower lip vermilion, Microgn... ORPHA:261120
Metaphyseal Acroscyphodysplasia
Cone-shaped metacarpal epiphyses, Abnormality of femur morphology, Short toe, Depressed nasal rid... ORPHA:1240
Pierre Robin Syndrome And Oligodactyly
Hand oligodactyly, Pierre-Robin sequence, Micrognathia, Cleft palate OMIM:172880
Intellectual Developmental Disorder With Hypertelorism And Distinctive Facies
Thin eyebrow, Long palpebral fissure, Broad nasal tip, Long philtrum, Tapered finger, Thick nasal... OMIM:618147
Spondyloepimetaphyseal Dysplasia With Abnormal Dentition
Irregular vertebral endplates, Metaphyseal irregularity, Widely-spaced incisors, Slender finger, ... OMIM:601668
Robinow Syndrome, Autosomal Dominant 3
Triangular mouth, Cleft palate, Depressed nasal bridge, Ventricular septal defect, Short nose, Lo... OMIM:616894
Acromicric Dysplasia
Abnormal eyebrow morphology, Narrow mouth, Bulbous nose, Abnormality of femur morphology, Fifth m... ORPHA:969
Spondylometaphyseal Dysplasia, East African Type
Coxa vara, Metaphyseal spurs, Metaphyseal widening, Brachydactyly, Genu varum, Rounded epiphyses,... OMIM:611702
Hydrocephalus, Sprengel Anomaly, And Costovertebral Dysplasia
High palate, Bulbous nose, Kyphoscoliosis, Malar flattening, Depressed nasal bridge, Brachydactyl... OMIM:600991
X-Linked Intellectual Disability, Stoll Type
Clinodactyly of the 5th finger, Malar flattening, Broad nasal tip, Hypoplastic nasal bridge, Long... ORPHA:85326
Robinow Syndrome, Autosomal Recessive 1
Dental crowding, Wide mouth, Triangular mouth, Hypoplastic sacrum, Hypoplasia of the radius, Depr... OMIM:268310
Chromosome 15Q13.3 Deletion Syndrome
Clinodactyly of the 5th finger, Abnormality of the palpebral fissures, Brachydactyly, Synophrys, ... OMIM:612001
Mohr Syndrome
High palate, Hydrocephalus, Cleft palate, Broad nasal tip, Depressed nasal bridge, Lobulated tong... OMIM:252100
Maxillonasal Dysplasia, Binder Type
Short distal phalanx of finger, Dental malocclusion, Vertebral clefting, Depressed nasal bridge, ... OMIM:155050
Hall-Riggs Mental Retardation Syndrome
Irregular vertebral endplates, U-Shaped upper lip vermilion, Kyphosis, Metaphyseal dysplasia, Hyp... OMIM:234250
Robinow Syndrome
Tricuspid atresia, Triangular mouth, Broad alveolar ridges, Broad nasal tip, Depressed nasal brid... ORPHA:97360
Craniofacial-Deafness-Hand Syndrome
Narrow mouth, Lacrimal duct atresia, Aplasia/Hypoplasia involving the nose, Depressed nasal ridge... ORPHA:1529
Multiple Epiphyseal Dysplasia, Lowry Type
Epiphyseal dysplasia, Delayed epiphyseal ossification, Dislocated radial head, Fragmented epiphys... ORPHA:166016
Orofaciodigital Syndrome V
High palate, Cleft palate, Optic disc coloboma, Lobulated tongue, Ventricular septal defect, Down... OMIM:174300
Rhizomelic Dysplasia, Patterson-Lowry Type
Coxa vara, Deformed humeral heads, Depressed nasal ridge, Short humerus, Brachydactyly, Abnormal ... ORPHA:2831
Orofaciodigital Syndrome Type 5
High, narrow palate, Tetralogy of Fallot, Postaxial hand polydactyly, Non-midline cleft lip, Agen... ORPHA:2919
Carpenter Syndrome 1
High palate, Abnormal pinna morphology, Aplasia/Hypoplasia of the middle phalanges of the toes, D... OMIM:201000
Trisomy 8Q
High palate, Joint stiffness, Protruding ear, Bone cyst, Myelomeningocele, Hypoplasia of penis, C... ORPHA:1752
Acrocephalopolydactyly
Depressed nasal ridge, Short neck, Brachydactyly, Limb undergrowth, Epicanthus, Short nose, Hyper... ORPHA:221054
Membranous Cranial Ossification, Delayed
Downslanted palpebral fissures, Depressed nasal bridge, Hypertelorism OMIM:155980
Teebi Hypertelorism Syndrome 2
High palate, Wide anterior fontanel, Clinodactyly of the 5th finger, Thick eyebrow, Cleft palate,... OMIM:619736
Velo-Facial-Skeletal Syndrome
Clinodactyly of the 5th finger, Hypertelorism, High, narrow palate, Prominent fingertip pads, Abn... ORPHA:3424
Alar Cartilages Hypoplasia-Coloboma-Telecanthus Syndrome
Convex nasal ridge, Cleft ala nasi, Telecanthus, Non-midline cleft lip, Hypertelorism, Underdevel... ORPHA:2007
Larsen-Like Osseous Dysplasia-Short Stature Syndrome
Narrow mouth, Clinodactyly of the 5th finger, Thin vermilion border, Scoliosis, Abnormal form of ... ORPHA:2370
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly
Cleft palate, Lobulated tongue, Hypoplastic pelvis, Rhizomelia, Unicoronal synostosis, Encephaloc... OMIM:616300
Familial Intestinal Malrotation
Anteverted nares, Depressed nasal bridge, Long palpebral fissure, Hypertelorism ORPHA:508410
Robinow Syndrome, Autosomal Dominant 1
High palate, Dental crowding, Triangular mouth, Depressed nasal bridge, Duplication of the distal... OMIM:180700
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation
Cleft palate, Craniosynostosis, Broad nasal tip, Osteopenia, Shallow orbits, Ventricular septal d... ORPHA:453504
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion
Cleft palate, Craniosynostosis, Broad nasal tip, Osteopenia, Shallow orbits, Ventricular septal d... ORPHA:352665
Peroxisome Biogenesis Disorder 10A (Zellweger)
High palate, Micrognathia, Downslanted palpebral fissures, Epicanthus, Prominent nose, Hypertelor... OMIM:614882
Orofacial Cleft 11
Cleft lip, Cleft palate OMIM:600625
Fetal Trimethadione Syndrome
High palate, Abnormal helix morphology, Atrial septal defect, Overfolded helix, Hypospadias, Depr... ORPHA:1913
Brachydactyly, Type A1
Short distal phalanx of finger, Clinodactyly of the 5th finger, Aplasia/Hypoplasia of the middle ... OMIM:112500
Autosomal Dominant Robinow Syndrome
Alopecia, Depressed nasal bridge, Short philtrum, Micromelia, Downslanted palpebral fissures, Sho... ORPHA:3107
Brachydactyly, Type A3
Rhomboid or triangular shaped 5th finger middle phalanx, Clinodactyly of the 5th finger, Cone-sha... OMIM:112700
Ectrodactyly Of Lower Limbs, Congenital Heart Defect, And Micrognathia
Ventricular septal defect, Micrognathia, Hypoplastic right heart, Tetralogy of Fallot OMIM:601348
Smith-Lemli-Opitz Syndrome
Wide mouth, Cleft palate, Atrioventricular canal defect, Advanced eruption of teeth, Ulnar deviat... ORPHA:818
Burn-Mckeown Syndrome
Short palpebral fissure, Bilateral choanal atresia, Short nose, Abnormal palate morphology, Hyper... ORPHA:1200
Brachydactyly-Preaxial Hallux Varus Syndrome
Thick eyebrow, Micrognathia, Preaxial hand polydactyly, Radial club hand, Brachydactyly, Broad th... ORPHA:1278
Orofaciodigital Syndrome Xviii
Short distal phalanx of finger, Accessory oral frenulum, Upslanted palpebral fissure, Postaxial p... OMIM:617927
Ventricular Septal Defect 2
Perimembranous ventricular septal defect OMIM:614431
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 2
High palate, Retrognathia, Depressed nasal bridge, Epicanthus, Short nose, Anteverted nares, Hype... OMIM:614069
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 1
High palate, 11 pairs of ribs, Downslanted palpebral fissures, Short nose, Sandal gap, Clinodacty... OMIM:617877
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly
Cleft palate, Femoral bowing, Cone-shaped epiphysis, Short digit, Enlarged kidney, Hypoplasia of ... OMIM:613091
Catel-Manzke Syndrome
Joint stiffness, Clinodactyly of the 5th finger, Atrial septal defect, Radial deviation of the 2n... ORPHA:1388
Neurodevelopmental Disorder With Dysmorphic Facies And Distal Limb Anomalies
Overlapping toe, Narrow mouth, Clinodactyly of the 5th finger, Short palpebral fissure, Slender f... OMIM:617755
Symphalangism With Multiple Anomalies Of Hands And Feet
Symphalangism affecting the phalanges of the toes, Symphalangism of the 4th finger, Absent distal... ORPHA:3246
Spondylometaphyseal Dysplasia With Corneal Dystrophy
Beaking of vertebral bodies, Hypertelorism, Increased intervertebral space, Depressed nasal bridg... OMIM:618961
Potocki-Shaffer Syndrome
2-5 finger cutaneous syndactyly, Short philtrum, Brachydactyly, Downturned corners of mouth, Down... OMIM:601224
Dislocation Of The Hip-Dysmorphism Syndrome
Abnormal palate morphology, Abnormal cardiac septum morphology, Narrow mouth, Depressed nasal rid... ORPHA:2412
Congenital Heart Defects, Multiple Types, 5
Double outlet right ventricle, Bicuspid aortic valve, Atrial septal defect, Aortic valve stenosis... OMIM:617912
Weiss-Kruszka Syndrome
Overfolded helix, Ventricular septal defect, Single transverse palmar crease, Short nose, Downsla... OMIM:618619
Ectodermal Dysplasia 13, Hair/Tooth Type
Sparse eyelashes, Thin eyebrow, Oligodontia, Depressed nasal bridge, Thick vermilion border, Hype... OMIM:617392
Cayler Cardiofacial Syndrome
Ventricular septal defect, Patent ductus arteriosus, Tetralogy of Fallot OMIM:125520
Distal Monosomy 15Q
Abnormal cardiac septum morphology, Double outlet right ventricle with doubly committed ventricul... ORPHA:1596
Phenobarbital Embryopathy
Malar flattening, Brachydactyly, Epicanthus, Abnormal nasal base, Unilateral cleft lip, Mandibula... ORPHA:1919
Cardiac Septal Defects With Coarctation Of The Aorta
Secundum atrial septal defect, Perimembranous ventricular septal defect, Coarctation of aorta OMIM:212090
Charlie M Syndrome
Narrow mouth, Tooth agenesis, Finger syndactyly, Thin vermilion border, Micrognathia, Short philt... ORPHA:1406
Cutis Laxa, Autosomal Recessive, Type Iie
High palate, Lumbar hyperlordosis, Convex nasal ridge, Clinodactyly of the 5th finger, Broad nasa... OMIM:619451
Atkin-Flaitz Syndrome
Kyphosis, Maxillary lateral incisor microdontia, Hypertelorism, Prominent median palatal raphe, B... OMIM:300431
Acromicric Dysplasia
Narrow mouth, Bulbous nose, Fifth metacarpal with ulnar notch, Short metacarpal, Cone-shaped epip... OMIM:102370
17P13.3 Microduplication Syndrome
High palate, Narrow mouth, Clinodactyly of the 5th finger, Short neck, Congenital hip dislocation... ORPHA:217385
White Matter Hypoplasia-Corpus Callosum Agenesis-Intellectual Disability Syndrome
Adducted thumb, Micrognathia, Downslanted palpebral fissures, Synophrys, Hypertelorism, Wide nasa... ORPHA:3207
Maxillonasal Dysplasia
Short distal phalanx of finger, Tooth agenesis, Aplasia/Hypoplasia of the distal phalanges of the... ORPHA:1248
Orofaciodigital Syndrome Type 2
High palate, Cone-shaped epiphyses of the phalanges of the hand, Cleft palate, Atrioventricular c... ORPHA:2751
Ring Chromosome 8 Syndrome
Deviation of finger, Epicanthus, Anteverted nares, Short nose, Abnormal palate morphology ORPHA:1450
Brachydactyly, Type A1, C
Short distal phalanx of finger, Bilateral talipes equinovarus, Brachydactyly, Short middle phalan... OMIM:615072
Acromesomelic Dysplasia, Maroteaux Type
Kyphosis, Beaking of vertebral bodies, Depressed nasal bridge, Scoliosis, Abnormal form of the ve... ORPHA:40
Chromosome 16P13.3 Duplication Syndrome
Bulbous nose, Short toe, Malar flattening, Upslanted palpebral fissure, Short phalanx of finger, ... OMIM:613458
Non-Distal Trisomy 10Q
High palate, Convex nasal ridge, Everted lower lip vermilion, Micrognathia, Depressed nasal bridg... ORPHA:1695
Microcephaly 4, Primary, Autosomal Recessive
Micrognathia, Hypertelorism, Thick eyebrow, Synophrys OMIM:604321
Frontorhiny
Congenital conductive hearing impairment, Basal encephalocele, Cleft palate, Camptodactyly of fin... ORPHA:391474
Asperger Syndrome, X-Linked, Susceptibility To, 2
Impaired ability to form peer relationships, Abnormal nonverbal communicative behavior OMIM:300497
Asperger Syndrome, X-Linked, Susceptibility To, 1
Impaired ability to form peer relationships, Abnormal nonverbal communicative behavior OMIM:300494
Asperger Syndrome, Susceptibility To, 1
Impaired ability to form peer relationships, Abnormal nonverbal communicative behavior OMIM:608638
Asperger Syndrome, Susceptibility To, 2
Impaired ability to form peer relationships, Abnormal nonverbal communicative behavior OMIM:608631
Cleidorhizomelic Syndrome
Clinodactyly of the 5th finger, Bilateral single transverse palmar creases, Brachydactyly, Rhizom... ORPHA:1453
Sugarman Brachydactyly
Brachydactyly, Proximal placement of hallux, Symphalangism affecting the proximal phalanges of th... OMIM:272150
Short Rib-Polydactyly Syndrome
Nephronophthisis, Cleft palate, Depressed nasal bridge, Cone-shaped epiphysis, Micromelia, Hepati... ORPHA:1505
Familial Digital Arthropathy-Brachydactyly
Short distal phalanx of finger, Shortening of all middle phalanges of the toes, Osteoarthritis of... ORPHA:85169
Whistling Face Syndrome, Recessive Form
High palate, Short neck, Ulnar deviation of finger, Trismus, Talipes equinovarus, Short palpebral... OMIM:277720
Velofacioskeletal Syndrome
High palate, Narrow palate, Hypertelorism, High, narrow palate, Prominent fingertip pads, Short t... OMIM:600736
Cleft Palate, Isolated
Gingival overgrowth, Cleft palate, Micrognathia, Anterior open-bite malocclusion, Increased overbite OMIM:119540
Mmep Syndrome
Microcephaly, Oral cleft, Ventricular septal defect, Median cleft lip, Mandibular prognathia ORPHA:3434
Hypochondroplasia
Lumbar hyperlordosis, Malar flattening, Flared metaphysis, Brachydactyly, Genu varum, Limited elb... OMIM:146000
Metaphyseal Acroscyphodysplasia
Cone-shaped epiphyses of the phalanges of the hand, Platyspondyly, Biconcave vertebral bodies, Mi... OMIM:250215
Acrodysostosis
Depressed nasal ridge, Hypoplasia of the radius, Depressed nasal bridge, Cone-shaped epiphysis, M... ORPHA:950
Steel Syndrome
Dislocated radial head, Hypertelorism, Scoliosis, Wide nasal bridge OMIM:615155
8P23.1 Microdeletion Syndrome
High palate, Abnormal cardiac septum morphology, Atrioventricular canal defect, Tapered finger, D... ORPHA:251071
Epiphyseal Dysplasia-Hearing Loss-Dysmorphism Syndrome
Wide mouth, Finger syndactyly, Depressed nasal bridge, Long philtrum, Scoliosis, Abnormality of t... ORPHA:1825
Temtamy Preaxial Brachydactyly Syndrome
Carpal synostosis, Cleft palate, Diastema, Microdontia, Brachydactyly, Radioulnar synostosis, Syn... OMIM:605282
Multiple Metaphyseal Dysplasia
Short distal phalanx of finger, Depressed nasal ridge, Abnormal hip bone morphology, Broad distal... ORPHA:93430
Orofacial Cleft 13
Malar flattening, Retrognathia, Micrognathia, Oligodontia, Cleft soft palate OMIM:613857
Pierpont Syndrome
Prominent fingertip pads, Broad nasal tip, Short neck, Short nose, Deeply set eye, Prominent medi... OMIM:602342
Autism, Susceptibility To, X-Linked 3
Lack of peer relationships, Abnormal nonverbal communicative behavior, Seizure OMIM:300496
Autism, Susceptibility To, X-Linked 1
Lack of peer relationships, Abnormal nonverbal communicative behavior, Seizure OMIM:300425
Autism
Impaired ability to form peer relationships, Abnormal nonverbal communicative behavior, Seizure OMIM:209850
Autism, Susceptibility To, 8
Impaired ability to form peer relationships, Abnormal nonverbal communicative behavior, Seizure OMIM:607373
Chromosome 15Q11-Q13 Duplication Syndrome
Impaired ability to form peer relationships, Abnormal nonverbal communicative behavior, Seizure OMIM:608636
Epilepsy, Nocturnal Frontal Lobe, 1
Seizure, Focal-onset seizure OMIM:600513
Frank-Ter Haar Syndrome
Wide mouth, Gingival overgrowth, Premature loss of teeth, Kyphosis, Beaking of vertebral bodies, ... ORPHA:137834
Digital Arthropathy-Brachydactyly, Familial
Short distal phalanx of finger, Short distal phalanx of toe, Short middle phalanx of toe, Brachyt... OMIM:606835
Chromosome 6Q11-Q14 Deletion Syndrome
High palate, Hypotelorism, Upslanted palpebral fissure, Broad nasal tip, Short neck, Long philtru... OMIM:613544
Terminal Osseous Dysplasia
Mesomelic leg shortening, Short toe, Toe clinodactyly, Malar flattening, Cleft palate, Camptodact... OMIM:300244
Simpson-Golabi-Behmel Syndrome, Type 2
High palate, Wide mouth, Cleft palate, Short neck, Congenital hip dislocation, Tapered finger, Si... OMIM:300209
Hall-Riggs Syndrome
Wide mouth, Platyspondyly, Wide nasal bridge, Delayed eruption of teeth, Scoliosis, Brachydactyly... ORPHA:2107
Cleft Lip/Palate-Intestinal Malrotation-Cardiopathy Syndrome
Clinodactyly of the 5th finger, Hypoplastic left heart, Upslanted palpebral fissure, Intestinal m... ORPHA:2001
Macrocephaly-Spastic Paraplegia-Dysmorphism Syndrome
Wide mouth, Kyphosis, Deeply set eye, Thick eyebrow, Everted lower lip vermilion, Short philtrum,... ORPHA:2429
Arthrogryposis, Distal, Type 2E
Narrow mouth, Micrognathia, Microcephaly, Mild microcephaly, Trismus OMIM:121070
Robinow Syndrome, Autosomal Recessive 2
Gingival overgrowth, Triangular mouth, Abnormality of the dentition, Micrognathia, Broad nasal ti... OMIM:618529
Nemaline Myopathy 9
High palate, Micrognathia, Cleft palate OMIM:615731
Pfeiffer Syndrome
High palate, Clinodactyly of the 5th finger, Finger syndactyly, Short philtrum, Short neck, Synos... ORPHA:710
Clark-Baraitser syndrome
Kyphosis, Maxillary lateral incisor microdontia, Prominent median palatal raphe, Broad nasal tip,... OMIM:300602
Syngnathia
Cleft palate OMIM:119550
Multiple Epiphyseal Dysplasia With Robin Phenotype
Cleft palate, Broad nasal tip, Hypoplasia of the capital femoral epiphysis, Genu valgum, Rhizomel... OMIM:601560
Thiemann Disease, Familial Form
Abnormal metaphysis morphology, Abnormal epiphysis morphology, Brachydactyly ORPHA:3314
Isolated Pierre Robin Syndrome
Glossoptosis, Micrognathia, Cleft palate ORPHA:718
Clark-Baraitser Syndrome
High palate, Wide mouth, Low hanging columella, Upslanted palpebral fissure, Depressed nasal brid... OMIM:617752
Frontonasal Dysplasia 1
Median cleft palate, Broad nasal tip, Cranium bifidum occultum, Hypoplasia of the maxilla, Widow'... OMIM:136760
Temtamy Preaxial Brachydactyly Syndrome
Proximal symphalangism of hands, Proximal radio-ulnar synostosis, Abnormality of the dentition, A... ORPHA:363417
Polydactyly, Postaxial, With Dental And Vertebral Anomalies
Dens in dente, Hemivertebrae, Macrodontia, Mandibular prognathia, Spinal canal stenosis, Clinodac... OMIM:263540
Microphthalmia With Limb Anomalies
High palate, Hydrocephalus, Cleft palate, Depressed nasal bridge, Macrodontia, Abnormality of the... ORPHA:1106
Microbrachycephaly-Ptosis-Cleft Lip Syndrome
Abnormality of finger, Large iliac wing, Hypotelorism, Malar flattening, Cone-shaped epiphysis, A... ORPHA:2511
Periodontal Ehlers-Danlos Syndrome
Gingival overgrowth, Periodontitis, Micrognathia, Agenesis of permanent teeth, Premature loss of ... ORPHA:75392
Otopalatodigital Syndrome Type 1
Short distal phalanx of finger, Anodontia, Hypertelorism, Cleft palate, Abnormal vertebral segmen... ORPHA:90650
Facial Dysmorphism, Hypertrichosis, Epilepsy, Intellectual/Developmental Delay, And Gingival Overgrowth Syndrome
Wide mouth, Gingival overgrowth, Clinodactyly of the 5th finger, Thick eyebrow, Deeply set eye, M... OMIM:618381
Fibromatosis, Gingival, With Distinctive Facies
High palate, Persistence of primary teeth, Thick eyebrow, Everted lower lip vermilion, Depressed ... OMIM:228560
Cleft Palate-Lateral Synechia Syndrome
Narrow mouth, Cleft palate, Everted lower lip vermilion, Micrognathia, Oral synechia ORPHA:2016
Gingival Fibromatosis-Facial Dysmorphism Syndrome
High palate, Gingival overgrowth, Thick eyebrow, Everted lower lip vermilion, Depressed nasal bri... ORPHA:2025
Hereditary Geniospasm
Chin myoclonus, Abnormal social behavior ORPHA:53372
Chung-Jansen Syndrome
High palate, Thick eyebrow, Upslanted palpebral fissure, Thin vermilion border, Micrognathia, Sho... OMIM:617991
Pseudoachondroplasia
Irregular carpal bones, Cone-shaped epiphysis, Platyspondyly, Hypoplasia of the capital femoral e... ORPHA:750
22Q11.2 Duplication Syndrome
Hypoplastic left heart, Depressed nasal ridge, Cleft palate, Micrognathia, Tetralogy of Fallot, V... ORPHA:1727
Chondrodysplasia With Joint Dislocations, Gpapp Type
Narrow mouth, Short toe, Cleft palate, Micrognathia, Brachydactyly, Short nose, Genu valgum, Prop... OMIM:614078
Intellectual Disability-Facial Dysmorphism-Hand Anomalies Syndrome
Cervical C2/C3 vertebral fusion, Short distal phalanx of finger, Short distal phalanx of the thum... ORPHA:370010
Chromosome 16P12.2-P11.2 Deletion Syndrome, 7.1- To 8.7-Mb
High palate, Bulbous nose, Deeply set eye, Micrognathia, Brachydactyly, Camptodactyly, Downslante... OMIM:613604
Oculomaxillofacial Dysostosis
Cleft palate, Upslanted palpebral fissure, Aplasia/Hypoplasia of the eyebrow, Abnormality of the ... ORPHA:1794
Night Blindness-Skeletal Anomalies-Dysmorphism Syndrome
Clinodactyly of the 5th finger, Malar flattening, Retrognathia, Down-sloping shoulders, Scoliosis... ORPHA:1390
Hypertelorism And Other Facial Dysmorphism, Brachydactyly, Genital Abnormalities, Mental Retardation, And Recurrent Inflammatory Episodes
Wide mouth, Thick eyebrow, Upslanted palpebral fissure, Small hand, Long philtrum, Wide nasal bri... OMIM:614684
Camptodactyly Syndrome, Guadalajara Type 1
High palate, Depressed nasal bridge, Short nose, Mandibular prognathia, Sacral dimple, Short dist... ORPHA:1327
Cornelia De Lange Syndrome 2
High palate, Thick eyebrow, Small hand, Micrognathia, Short neck, Brachydactyly, Proximal placeme... OMIM:300590
Craniodigital-Intellectual Disability Syndrome
Thick eyebrow, Micrognathia, Spina bifida occulta, Narrow nasal bridge, Short nose, Long eyelashe... ORPHA:1514
Fatty Acyl-Coa Reductase 1 Deficiency
Depressed nasal bridge, Long philtrum, Short nose, Hypertelorism, Thin upper lip vermilion, Highl... ORPHA:438178
Chst3-Related Skeletal Dysplasia
Kyphoscoliosis, Sparse eyebrow, Long philtrum, Delayed eruption of teeth, Scoliosis, Abnormal for... ORPHA:263463
Filippi Syndrome
Hypodontia, Low hanging columella, Thin vermilion border, Short philtrum, Cutaneous syndactyly, F... OMIM:272440
Spondyloepiphyseal Dysplasia-Brachydactyly-Speech Disorder Syndrome
Wide mouth, Limited pronation/supination of forearm, Depressed nasal bridge, Short neck, Hypoplas... ORPHA:163654
Spondyloepiphyseal Dysplasia-Craniosynostosis-Cleft Palate-Cataracts-Intellectual Disability Syndrome
High palate, Slender finger, Cleft palate, Depressed nasal bridge, Short neck, Platyspondyly, Ani... ORPHA:163649
Keipert Syndrome
Thick upper lip vermilion, Broad distal phalanx of finger, Brachydactyly, Downturned corners of m... OMIM:301026
Cleft Palate, Cardiac Defects, And Mental Retardation
Cleft upper lip, Atrial septal defect, Secundum atrial septal defect, Cleft palate, Short 2nd fin... OMIM:600987
Orofaciodigital Syndrome Type 14
Bulbous nose, Cleft palate, Lobulated tongue, Broad hallux, Ventricular septal defect, Dilated th... ORPHA:434179
Pallister-Hall-Like Syndrome
Hydrocephalus, Cleft palate, Micropenis, Short ribs, Depressed nasal bridge, Micrognathia, Hypoth... OMIM:241800
Ring Chromosome 6 Syndrome
Short distal phalanx of finger, Short neck, Epicanthus, Hypertelorism, Wide nasal bridge ORPHA:1448
Congenital Heart Defects, Multiple Types, 6
Double outlet right ventricle, Secundum atrial septal defect, Pulmonic stenosis, Single ventricle... OMIM:613854
Chromosome 20Q11-Q12 Deletion Syndrome
Deeply set eye, Adducted thumb, Short philtrum, Brachydactyly, Finger clinodactyly, Camptodactyly... OMIM:614257
Codas Syndrome
Coronal cleft vertebrae, Depressed nasal bridge, Congenital hip dislocation, Scoliosis, Delayed e... ORPHA:1458
Trichorhinophalangeal Syndrome, Type Iii
Short metatarsal, Supernumerary tooth, Cone-shaped epiphyses of the middle phalanges of the hand,... OMIM:190351
Ververi-Brady Syndrome
High palate, Metaphyseal irregularity, Bulbous nose, Clinodactyly of the 5th finger, Wide mouth, ... OMIM:617982
Wiedemann-Steiner Syndrome
High palate, Abnormality of the dentition, Depressed nasal tip, Tapered finger, Downslanted palpe... OMIM:605130
Pierre Robin Sequence With Facial And Digital Anomalies
Short distal phalanx of finger, Cleft palate, Glossoptosis, Micrognathia, Pierre-Robin sequence OMIM:311895
Spondyloepiphyseal Dysplasia-Brachydactyly And Distinctive Speech
Wide mouth, Rhizo-meso-acromelic limb shortening, Depressed nasal bridge, Short neck, Platyspondy... OMIM:611717
Brachydactyly, Type A1, B
Short distal phalanx of finger, Cone-shaped epiphyses of the phalanges of the hand, Broad distal ... OMIM:607004
Spondylometaphyseal Dysplasia, Type A4
Sclerotic humeral metaphysis, Metaphyseal irregularity, Broad ischia, Narrow greater sciatic notc... OMIM:609052
Cortical Blindness, Retardation, And Postaxial Polydactyly
Long philtrum, Short nose, Microretrognathia OMIM:218010
Temple-Baraitser Syndrome
Short distal phalanx of finger, Wide mouth, Adducted thumb, Depressed nasal bridge, Long philtrum... OMIM:611816
Brachydactyly-Mesomelia-Intellectual Disability-Heart Defects Syndrome
Tooth agenesis, Convex nasal ridge, Micrognathia, Brachydactyly, Mesomelia, Abnormal shoulder mor... ORPHA:1277
Thoc6-Related Developmental Delay-Microcephaly-Facial Dysmorphism Syndrome
Thick upper lip vermilion, Anal atresia, Dental malocclusion, Dysplastic corpus callosum, Velopha... ORPHA:363444
Orofaciodigital Syndrome Xiv
Abnormal pinna morphology, Cleft palate, Optic disc coloboma, Lobulated tongue, Ventricular septa... OMIM:615948
Intellectual Developmental Disorder, Autosomal Recessive 45
Bulbous nose, Deeply set eye, Thick eyebrow, Upslanted palpebral fissure, Retrognathia, Downslant... OMIM:615979
Monosomy 5P
High palate, Microretrognathia, Finger syndactyly, Small hand, Short neck, Scoliosis, Downslanted... ORPHA:281
Impaired Intellectual Development And Distinctive Facial Features With Or Without Cardiac Defects
Wide mouth, Bulbous nose, Talipes equinovarus, Macroglossia, Everted lower lip vermilion, Open mo... OMIM:616789
Microcephaly-Cleft Palate-Abnormal Retinal Pigmentation Syndrome
Cleft palate, Retrognathia, Micrognathia, Microcephaly, Bifid uvula, Mandibular prognathia, Submu... ORPHA:2521
Chime Syndrome
Sparse hair, Depressed nasal ridge, Cleft palate, Abnormality of the dentition, Short philtrum, M... ORPHA:3474
Leri Pleonosteosis
Abnormality of finger, Short palpebral fissure, Abnormally straight spine, Upslanted palpebral fi... ORPHA:2900
Mental Retardation, Buenos Aires Type
High palate, Wide mouth, Hydrocephalus, Carious teeth, Downslanted palpebral fissures, Long eyela... OMIM:249630
Pde4D Haploinsufficiency Syndrome
Broad phalanx, Depressed nasal bridge, Short philtrum, Cone-shaped epiphysis, Upper limb undergro... ORPHA:439822
Cranioectodermal Dysplasia
Short distal phalanx of finger, Taurodontia, Clinodactyly of the 5th finger, Hypodontia, Finger s... ORPHA:1515
Hydrocephalus-Costovertebral Dysplasia-Sprengel Anomaly Syndrome
High palate, Bulbous nose, Malar flattening, Depressed nasal bridge, Hemivertebrae, Wide nasal br... ORPHA:2180
Brachydactyly, Type D
Broad distal phalanx of the thumb, Broad distal phalanx of the hallux, Type D brachydactyly OMIM:113200
Braddock-Carey Syndrome 1
Sparse hair, Cleft palate, Ventricular septal defect, Downslanted palpebral fissures, Anteriorly ... OMIM:619980
Noonan Syndrome-Like Disorder With Loose Anagen Hair
Thin vermilion border, Aplasia/Hypoplasia of the eyebrow, Brachydactyly, Carious teeth, Abnormali... ORPHA:2701
Nicolaides-Baraitser Syndrome
Wide mouth, Downslanted palpebral fissures, Long eyelashes, Thick nasal alae, Sandal gap, Abnorma... ORPHA:3051
Orofaciodigital Syndrome Iii
Bulbous nose, Short sternum, Supernumerary tooth, Bifid tongue, Bifid uvula, Microdontia, Postaxi... OMIM:258850
Short Stature, Brachydactyly, Impaired Intellectual Development, And Seizures
High palate, Deeply set eye, Short palpebral fissure, Malar flattening, Retrognathia, Thin vermil... OMIM:617157
Intellectual Disability, Wolff Type
Short distal phalanx of finger, Bulbous nose, Clinodactyly of the 5th finger, Microretrognathia, ... ORPHA:3080
Intellectual Developmental Disorder, Autosomal Dominant 26
Wide mouth, Decreased palmar creases, Depressed nasal bridge, Short philtrum, Downslanted palpebr... OMIM:615834
3Mc Syndrome 2
Cleft palate, Craniosynostosis, Depressed nasal tip, Radioulnar synostosis, Downslanted palpebral... OMIM:265050
Summitt Syndrome
Clinodactyly of the 5th finger, Hypertelorism, Depressed nasal ridge, Camptodactyly of finger, Br... ORPHA:3210
Diabetic Embryopathy
Hydrocephalus, Renal hypoplasia/aplasia, Cleft palate, Microtia, Micropenis, Micrognathia, Aplasi... ORPHA:1926
Oculodentodigital Dysplasia, Autosomal Recessive
Macrodontia of permanent maxillary central incisor, Long nose, Delayed eruption of teeth, Downsla... OMIM:257850
Intellectual Developmental Disorder, X-Linked, Syndromic, Stocco Dos Santos Type
Kyphosis, Talipes equinovarus, Small hand, Depressed nasal bridge, Scoliosis, Epicanthus, Short f... OMIM:300434
Okur-Chung Neurodevelopmental Syndrome
High palate, Micrognathia, Scoliosis, Brachydactyly, Epicanthus, Synophrys, Clinodactyly, Antever... OMIM:617062
Arthrogryposis, Distal, Type 2B2
Short toe, Narrow mouth, Talipes equinovarus, Adducted thumb, Overlapping fingers, Brachydactyly,... OMIM:618435
Brachydactyly, Type A4
Aplasia of the middle phalanges of the toes, Short middle phalanx of the 2nd finger, Type A brach... OMIM:112800
Brachytelephalangy-Dysmorphism-Kallmann Syndrome
Short distal phalanx of finger, Abnormality of the nares, Brachydactyly, Hypoplasia of the zygoma... ORPHA:1295
Otopalatodigital Syndrome, Type I
Cleft palate, Short 3rd metacarpal, Downslanted palpebral fissures, Broad hallux, Short nose, San... OMIM:311300
Short Stature, Hearing Loss, Retinitis Pigmentosa, And Distinctive Facies
Deeply set eye, Short palpebral fissure, Upslanted palpebral fissure, Broad nasal tip, Long philt... OMIM:617763
Mitochondrial Complex I Deficiency, Nuclear Type 36
Microcephaly, Periventricular leukomalacia, Perimembranous ventricular septal defect, Cardiomegaly OMIM:619170
Weyers Acrofacial Dysostosis
Clinodactyly of the 5th finger, Hypotelorism, Brachydactyly, Postaxial hand polydactyly, Conical ... OMIM:193530
Microcephaly, Facial Dysmorphism, Renal Agenesis, And Ambiguous Genitalia Syndrome
High palate, Depressed nasal bridge, Ventricular septal defect, Postaxial polydactyly, Unilateral... OMIM:618142
Spondyloepimetaphyseal Dysplasia, Faden-Alkuraya Type
Overlapping toe, Malar flattening, Depressed nasal bridge, Femoral bowing, Short neck, Platyspond... OMIM:616723
Achondroplasia
Bowing of the legs, Lumbar hyperlordosis, Lumbar kyphosis in infancy, Malar flattening, Depressed... OMIM:100800
Symptomatic Form Of Coffin-Lowry Syndrome In Female Carriers
Anodontia, Kyphosis, Everted lower lip vermilion, Oligodontia, Scoliosis, Tapered finger, Downsla... ORPHA:276630
Desbuquois Dysplasia 1
Radial deviation of the 2nd finger, Depressed nasal bridge, Short 1st metacarpal, Short neck, Pla... OMIM:251450
Neurodevelopmental Disorder With Structural Brain Anomalies And Dysmorphic Facies
Hypertelorism, Micrognathia, Long philtrum, Scoliosis, Ulnar deviation of the wrist, Short nose, ... OMIM:618577
Epiphyseal Dysplasia, Multiple, 4
Epiphyseal dysplasia, Flat capital femoral epiphysis, Talipes equinovarus, Brachydactyly, Scolios... OMIM:226900
Holzgreve Syndrome
Joint stiffness, Renal hypoplasia/aplasia, Abnormal morphology of ulna, Aplasia/Hypoplasia of the... ORPHA:2167
Gand Syndrome
Wide mouth, Deeply set eye, Long toe, Broad nasal tip, Short philtrum, Long fingers, Narrow palpe... OMIM:615074
Marshall-Smith Syndrome
High palate, Hypertrichosis, Hydrocephalus, Short sternum, Slender finger, Prominent fingertip pa... OMIM:602535
Gorlin Syndrome
Abnormality of the sense of smell, Hemivertebrae, Vertebral fusion, Arachnodactyly, Scoliosis, Br... ORPHA:377
Aorta Coarctation
Bicuspid aortic valve, Stroke, Hypoplastic left heart, Aortic valve atresia, Coarctation of the d... ORPHA:1457
Tetralogy Of Fallot
Clinodactyly of the 5th finger, Thin vermilion border, Abnormal nasal morphology, Brachydactyly, ... ORPHA:3303
Long Qt Syndrome 16
Patent ductus arteriosus after birth at term, Perimembranous ventricular septal defect OMIM:618782
Cenani-Lenz Syndrome
Hypoplasia of the radius, Short philtrum, Micromelia, Radioulnar synostosis, Downslanted palpebra... ORPHA:3258
Muenke Syndrome
High palate, Dental malocclusion, Cone-shaped epiphyses of the phalanges of the hand, Capitate-ha... OMIM:602849
14Q24.1Q24.3 Microdeletion Syndrome
Dislocated radial head, Long philtrum, Wide nasal bridge, Brachydactyly, Short thumb, Downslanted... ORPHA:401935
Craniofacial-Deafness-Hand Syndrome
Ulnar deviation of the hand, Malar flattening, Ulnar deviation of the hand or of fingers of the h... OMIM:122880
Congenital Heart Defects, Multiple Types, 4
Aortic valve stenosis, Hypoplastic left heart, Atrioventricular canal defect, Coarctation of aort... OMIM:615779
Nabais Sa-De Vries Syndrome, Type 1
Bulbous nose, Clinodactyly of the 5th finger, Deeply set eye, Depressed nasal bridge, Downslanted... OMIM:618828
Short Stature, Amelogenesis Imperfecta, And Skeletal Dysplasia With Scoliosis
High palate, Cleft palate, Carious teeth, Genu valgum, Small epiphyses, Short long bone, Advanced... OMIM:618363
Odontochondrodysplasia
Dentinogenesis imperfecta, Retrognathia, Depressed nasal bridge, Cone-shaped epiphysis, Platyspon... ORPHA:166272
Viss Syndrome
High palate, Chronic gastritis, Celiac disease, Tortuous cerebral arteries, Alopecia, Depressed n... OMIM:619472
Short-Rib Thoracic Dysplasia 16 With Or Without Polydactyly
Short distal phalanx of finger, Cone-shaped epiphyses of the phalanges of the hand, Postaxial pol... OMIM:617102
Multinucleated Neurons, Anhydramnios, Renal Dysplasia, Cerebellar Hypoplasia, And Hydranencephaly
Bulbous nose, Cutaneous syndactyly, Single transverse palmar crease, Clinodactyly of the 5th fing... OMIM:236500
Robinow Syndrome, Autosomal Dominant 2
Wide mouth, Triangular mouth, Cleft palate, Abnormality of the dentition, Depressed nasal bridge,... OMIM:616331
Epidermolysis Bullosa, Late-Onset Localized Junctional, With Mental Retardation
Thick upper lip vermilion, Cleft palate, Abnormality of the dentition, Short philtrum, Mandibular... OMIM:226440
Fetal Valproate Spectrum Disorder
Narrow mouth, Depressed nasal ridge, Thin vermilion border, Long philtrum, Downturned corners of ... ORPHA:1906
Recombinant Chromosome 8 Syndrome
Double outlet right ventricle, Gingival overgrowth, Atrial septal defect, Cerebral atrophy, Malar... OMIM:179613
Deafness-Craniofacial Syndrome
Sensorineural hearing impairment, Upslanted palpebral fissure, Abnormality of the dentition, Shor... ORPHA:3241
2q37 monosomy
Thin upper lip vermilion, Brachydactyly, Deeply set eye DECIPHER:44
Liang-Wang Syndrome
Wide mouth, Gingival overgrowth, Macrodontia of permanent maxillary central incisor, Macroglossia... OMIM:618729
20Q11.2 Microdeletion Syndrome
Deeply set eye, Adducted thumb, Short philtrum, Brachydactyly, Finger clinodactyly, Camptodactyly... ORPHA:444051
Pallister W Syndrome
Agenesis of central incisor, Radial bowing, Joint contracture of the hand, Broad nasal tip, Depre... OMIM:311450
3Q13 Microdeletion Syndrome
Abnormality of the hand, Short neck, Long philtrum, Epicanthus, Anteverted nares, Hypertelorism, ... ORPHA:1621
Mosaic Trisomy 1
Wide mouth, Abnormal pinna morphology, Cleft palate, Depressed nasal bridge, 2-3 finger syndactyl... ORPHA:1692
Brachyolmia Type 1, Hobaek Type
Sclerotic foci of metaphyses of the elbow, Kyphosis, Squared-off platyspondyly, Back pain, Short ... OMIM:271530
Even-Plus Syndrome
High palate, Epiphyseal dysplasia, Anal atresia, Dysplastic corpus callosum, Atrial septal defect... OMIM:616854
Multiple Epiphyseal Dysplasia, Al-Gazali Type
Delayed epiphyseal ossification, Spindle-shaped finger, Triangular mouth, Cutaneous syndactyly, G... ORPHA:166024
Craniosynostosis-Hydrocephalus-Arnold-Chiari Malformation Type I-Radioulnar Synostosis Syndrome
Hydrocephalus, Craniosynostosis, Depressed nasal bridge, Radioulnar synostosis, Short nose, Bowin... ORPHA:171839
Progressive Spondyloepimetaphyseal Dysplasia-Short Stature-Short Fourth Metatarsals-Intellectual Disability Syndrome
Fibular metaphyseal irregularity, Short fourth metatarsal, Abnormality of the dentition, Depresse... ORPHA:457395
Lethal Osteosclerotic Bone Dysplasia
Gingival overgrowth, Depressed nasal ridge, Retrognathia, Micrognathia, Short neck, Gingival fibr... ORPHA:1832
Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Mental Retardation, And Ear Anomalies Syndrome
Wide mouth, Sparse hair, Cleft palate, Overfolded helix, Depressed nasal bridge, Short philtrum, ... OMIM:280000
Sandestig-Stefanova Syndrome
High palate, Muscular ventricular septal defect, Retrognathia, Hypoplasia of the corpus callosum,... OMIM:618804
Simpson-Golabi-Behmel Syndrome, Type 1
Posterior helix pit, Wide mouth, Hypertrichosis, Short sternum, Hydrocephalus, Cleft palate, Shor... OMIM:312870
Intellectual Disability-Expressive Aphasia-Facial Dysmorphism Syndrome
Seizure, Abnormal social behavior ORPHA:436151
Microphthalmia With Limb Anomalies
High palate, Cleft palate, Depressed nasal bridge, Downslanted palpebral fissures, Single transve... OMIM:206920
Brachydactyly, Type A2, With Microcephaly
Clinodactyly of the 2nd toe, Absent middle phalanx of 2nd finger, Type A2 brachydactyly, Thumbs h... OMIM:211369
Miller-Dieker Syndrome
Clinodactyly of the 5th finger, Abnormality of upper lip, Epicanthus, Short nose, Anteverted nare... ORPHA:531
Burn-Mckeown Syndrome
Cleft palate, Short philtrum, Ventricular septal defect, Mandibular prognathia, Cleft upper lip, ... OMIM:608572
Preaxial Deficiency, Postaxial Polydactyly, And Hypospadias
Postaxial hand polydactyly, Brachydactyly, Short thumb, Short 2nd toe OMIM:176305
Metatropic Dysplasia
Halberd-shaped pelvis, Depressed nasal bridge, Cone-shaped epiphysis, Platyspondyly, Hyperplasia ... OMIM:156530
Orofaciodigital Syndrome Vi
High palate, Cleft upper lip, Accessory oral frenulum, Mesoaxial hand polydactyly, Cleft palate, ... OMIM:277170
Neurodevelopmental Disorder With Hypotonia, Stereotypic Hand Movements, And Impaired Language
Upslanted palpebral fissure, Depressed nasal bridge, Short philtrum, Downturned corners of mouth,... OMIM:613443
Porencephaly, Cerebellar Hypoplasia, And Internal Malformations
Atrial septal defect, Cerebellar hypoplasia, Agenesis of cerebellar vermis, Tetralogy of Fallot, ... OMIM:601322
Cornelia De Lange Syndrome 4 With Or Without Midline Brain Defects
Cleft palate, Hemivertebrae, Radioulnar synostosis, Single transverse palmar crease, Short nose, ... OMIM:614701
Ruvalcaba Syndrome
Kyphosis, Narrow mouth, Clinodactyly of the 5th finger, Convex nasal ridge, Thin vermilion border... ORPHA:3121
20P13 Microdeletion Syndrome
Wide anterior fontanel, Deeply set eye, Finger syndactyly, Brachydactyly, Polydactyly, Downslante... ORPHA:313781
Brachydactyly, Combined B And E Types
Short fifth metatarsal, Short fourth metatarsal, Broad distal phalanx of finger, Brachydactyly, S... OMIM:112440
Faciocardiomelic Syndrome
Dental malocclusion, Wide mouth, Short eyelashes, Micrognathia, Hyperplasia of the maxilla, Depre... OMIM:612731
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 4
Epicanthus, Depressed nasal bridge, Hypertelorism OMIM:616911
Lowry-Maclean Syndrome
Microcephaly, Delayed eruption of teeth, Cleft palate, Abnormal heart morphology OMIM:600252
Microcephaly 8, Primary, Autosomal Recessive
Retrognathia, Microcephaly OMIM:614673
Rhizomelic Syndrome, Urbach Type
High palate, Kyphosis, Abnormality of the tongue, Wide anterior fontanel, Short distal phalanx of... ORPHA:3098
Trisomy 17P
High palate, Wide mouth, Hydrocephalus, Cleft palate, Tapered finger, Downslanted palpebral fissu... ORPHA:261290
Distal Monosomy 1Q
Thin vermilion border, Micrognathia, Depressed nasal bridge, Epicanthus, Hypertelorism, Smooth ph... ORPHA:36367
Crouzon Syndrome-Acanthosis Nigricans Syndrome
Convex nasal ridge, Malar flattening, Abnormal sacrum morphology, Brachydactyly, Abnormal form of... ORPHA:93262
Pfeiffer Syndrome
High palate, Humeroradial synostosis, Elbow ankylosis, Depressed nasal bridge, Shallow orbits, Sh... OMIM:101600
Trisomy 9P
Kyphosis, Clinodactyly of the 5th finger, Deeply set eye, Impacted tooth, Abnormal nasal morpholo... ORPHA:236
Microcephaly, Congenital Heart Disease, Unilateral Renal Agenesis, And Hyposegmented Lungs
Short distal phalanx of finger, Cleft palate, Microcephaly, Ventricular septal defect, Hydranence... OMIM:601355
Mesomelia-Synostoses Syndrome
Abnormality of femur morphology, Bulbous nose, Abnormality of the humerus, Micromelia, Ulnar devi... ORPHA:2496
Deafness, Onychodystrophy, Osteodystrophy, Mental Retardation, And Seizures Syndrome
High palate, Bulbous nose, Cleft palate, Optic atrophy, Ventricular septal defect, Open mouth, Th... OMIM:220500
Developmental Delay With Or Without Dysmorphic Facies And Autism
Abnormal cardiac septum morphology, Bulbous nose, Wide mouth, Cleft palate, Depressed nasal bridg... OMIM:618454
Multiple Synostoses Syndrome
Cone-shaped epiphysis, Brachydactyly, Symphalangism affecting the phalanges of the hand, Bilatera... ORPHA:3237
Mesomelic Limb Shortening And Bowing
Mesomelic leg shortening, Cleft palate, Retrognathia, Micrognathia, Mesomelic arm shortening OMIM:249710
Brachydactyly Type A2
Type A2 brachydactyly, Clinodactyly of the 5th finger, Aplasia/Hypoplasia of the middle phalanx o... ORPHA:93396
Spondylomegaepiphyseal Dysplasia With Upper Limb Mesomelia, Punctate Calcifications, And Deafness
Irregular vertebral endplates, Beaking of vertebral bodies, Cone-shaped epiphyses of the phalange... OMIM:609616
Sillence Syndrome
Platyspondyly, Abnormal vertebral morphology, Large tarsal bones, Back pain, Chess-pawn distal ph... ORPHA:3168
Spondyloepimetaphyseal Dysplasia, X-Linked, With Hypomyelinating Leukodystrophy
High palate, Broad nasal tip, Depressed nasal bridge, Short neck, Platyspondyly, Cone-shaped capi... OMIM:300232
Fraser Syndrome
High palate, Depressed nasal bridge, Cleft ala nasi, Umbilical hernia, Encephalocele, Cleft upper... ORPHA:2052
Spondyloepimetaphyseal Dysplasia, Isidor-Toutain Type
Coxa vara, Short long bone, Platyspondyly, Scoliosis, Genu varum, Enlarged metaphyses, Irregular ... OMIM:618728
Suleiman-El-Hattab Syndrome
High palate, Wide mouth, Overfolded helix, Ventricular septal defect, Optic disc pallor, Single t... OMIM:618950
Short Rib-Polydactyly Syndrome, Verma-Naumoff Type
Depressed nasal bridge, Micromelia, Urethrovaginal fistula, Abnormal metaphysis morphology, Cleft... ORPHA:93271
Ritscher-Schinzel Syndrome 1
Double outlet right ventricle, Anal atresia, Atrial septal defect, Aortic valve stenosis, Cleft p... OMIM:220210
Tetrasomy 12P
Thick upper lip vermilion, Abnormal soft palate morphology, Everted lower lip vermilion, Sparse e... ORPHA:884
Agammaglobulinemia 5, Autosomal Dominant
High palate, Epicanthus, Hypertelorism OMIM:613506
Emery-Nelson Syndrome
High palate, Metacarpophalangeal joint contracture, Depressed nasal bridge, Camptodactyly of fing... ORPHA:1927
Microcephaly-Capillary Malformation Syndrome
Short distal phalanx of finger, Atrial septal defect, Cleft palate, Right ventricular hypertrophy... OMIM:614261
Intellectual Developmental Disorder With Language Impairment And With Or Without Autistic Features
Malar flattening, Retrognathia, Broad nasal tip, Downslanted palpebral fissures, Short nose, Open... OMIM:613670
Radioulnar Synostosis-Developmental Delay-Hypotonia Syndrome
Protruding ear, Abnormality of the dentition, Multicystic kidney dysplasia, Radioulnar synostosis... ORPHA:3270
Craniofrontonasal Dysplasia
High palate, Clinodactyly of the 5th finger, Finger syndactyly, Depressed nasal ridge, Abnormalit... ORPHA:1520
Tricuspid Atresia
Tricuspid atresia, Atrial septal defect, Coarctation of aorta, Pulmonary artery atresia, Ventricu... ORPHA:1209
Brachydactyly, Type B1
Wide anterior fontanel, Joint contracture of the hand, Hypoplastic sacrum, Cutaneous finger synda... OMIM:113000
Short Stature-Wormian Bones-Dextrocardia Syndrome
High palate, Tooth agenesis, Micrognathia, Depressed nasal tip, Camptodactyly of finger, Brachyda... ORPHA:2863
Osteochondrodysplasia, Brachydactyly, And Overlapping Malformed Digits
Short distal phalanx of finger, Postaxial polydactyly, Adducted thumb, Overlapping fingers, Scoli... OMIM:618167
Feingold Syndrome 2
Intestinal atresia, Short middle phalanx of the 2nd finger, Ventricular septal defect, Secondary ... OMIM:614326
Gombo Syndrome
Radial deviation of finger, Brachydactyly, Clinodactyly OMIM:233270
Craniometaphyseal Dysplasia, Autosomal Recessive
Metaphyseal dysplasia, Hypertelorism, Bony paranasal bossing, Patchy sclerosis of finger phalanx,... OMIM:218400
Femoral-Facial Syndrome
Cleft palate, Radioulnar synostosis, Abnormality of fibula morphology, Long penis, Short nose, Ri... ORPHA:1988
Microcephaly, Corpus Callosum Dysgenesis, And Cleft Lip/Palate
Cleft upper lip, Microcephaly, Cleft palate, Hypoplasia of the corpus callosum OMIM:601420
Zechi-Ceide Syndrome
Abnormal helix morphology, Cleft palate, Short philtrum, Sandal gap, Mandibular prognathia, Abnor... ORPHA:217017
Marshall Syndrome
Macrodontia of permanent maxillary central incisor, Cleft palate, Depressed nasal bridge, Platysp... OMIM:154780
Vitamin K Antagonist Embryofetopathy
Short distal phalanx of finger, Macroglossia, Depressed nasal bridge, Short neck, Brachydactyly, ... ORPHA:1914
Hypochondroplasia
Spinal canal stenosis, Abnormality of femur morphology, Short toe, Scoliosis, Abnormal form of th... ORPHA:429
Aminopterin Syndrome Sine Aminopterin
High palate, Thoracic scoliosis, Joint contracture of the hand, Cleft palate, Arachnodactyly, Mic... OMIM:600325
Parc Syndrome
Microretrognathia, Cleft palate OMIM:600331
Congenital Absence Of Upper Arm And Forearm With Hand Present
Abnormal cardiac septum morphology, Congenital malformation of the great arteries, Cleft palate, ... ORPHA:294975
Intellectual Developmental Disorder, Autosomal Dominant 44, With Microcephaly
High palate, Bulbous nose, Depressed nasal bridge, Short philtrum, Tapered finger, Downslanted pa... OMIM:617061
Roifman Syndrome
Epiphyseal dysplasia, Short toe, Clinodactyly of the 5th finger, Delayed proximal femoral epiphys... ORPHA:353298
Trisomy 4P
Thick eyebrow, Abnormality of the dentition, Depressed nasal bridge, Short neck, Scoliosis, Radia... ORPHA:1738
Skeletal Dysplasia-Epilepsy-Short Stature Syndrome
Short distal phalanx of finger, Dental malocclusion, Kyphosis, Abnormality of the dentition, Scol... ORPHA:1858
Temtamy Syndrome
Short toe, Clinodactyly of the 5th finger, Convex nasal ridge, Micrognathia, Brachydactyly, Genu ... ORPHA:1777
Coloboma Of Macula-Brachydactyly Type B Syndrome
Short distal phalanx of finger, Camptodactyly of finger, Type B brachydactyly, Broad thumb ORPHA:1471
Keipert Syndrome
Short distal phalanx of finger, Clinodactyly of the 5th finger, Aplasia/Hypoplasia of the distal ... ORPHA:2662
Brachydactyly Type C
Clinodactyly of the 5th finger, Stippling of the epiphysis of the distal phalanx of the thumb, Ps... ORPHA:93384
Brachydactyly, Type A1, With Short Stature, Scoliosis, Microcephaly, Ptosis, Hearing Loss, And Mental Retardation
Bulbous nose, Upslanted palpebral fissure, Scoliosis, Brachydactyly, Aplasia/Hypoplasia of toe, E... OMIM:613627
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type
Cleft palate, Osteopenia, Ventricular septal defect, Short nose, Cardiomegaly, Flexion contractur... OMIM:616897
Roifman Syndrome
Irregular vertebral endplates, Short toe, Clinodactyly of the 5th finger, Short metacarpal, Bicon... OMIM:616651
Isolated Dandy-Walker Malformation
Dandy-Walker malformation, Tetralogy of Fallot, Cleft palate, Aplasia/Hypoplasia of the corpus ca... ORPHA:217
Neurodevelopmental Disorder With Dysmorphic Facies And Distal Skeletal Anomalies
Wide mouth, Cone-shaped epiphysis, Tapered finger, Downslanted palpebral fissures, Broad hallux, ... OMIM:618659
16P13.11 Microduplication Syndrome
Atrial septal defect, Craniosynostosis, Arachnodactyly, Coarctation of aorta, Tetralogy of Fallot... ORPHA:261243
Familial Scaphocephaly Syndrome, Mcgillivray Type
High palate, Upslanted palpebral fissure, Open bite, Broad hallux phalanx, Mandibular prognathia,... ORPHA:168624
Thai Symphalangism Syndrome
High palate, Short toe, Hypodontia, Proximal symphalangism of hands, Distal symphalangism of hand... OMIM:608028
5Q14.3 Microdeletion Syndrome
Deeply set eye, Thick eyebrow, Upslanted palpebral fissure, Short philtrum, Short nose, Open mout... ORPHA:228384
Liebenberg Syndrome
Radially deviated wrists, Metaphyseal widening, 2-3 finger syndactyly, Brachydactyly, Joint contr... OMIM:186550
Autism Spectrum Disorder Due To Auts2 Deficiency
Decreased palmar creases, Short philtrum, Narrow palm, Umbilical hernia, Abnormal heart morpholog... ORPHA:352490
Frontonasal Dysplasia-Bifid Nose-Upper Limb Anomalies Syndrome
Clinodactyly of the 5th finger, Abnormal nasal bone morphology, Abnormality of the hand, Abnormal... ORPHA:521308
Char Syndrome
Clinodactyly of the 5th finger, Thick eyebrow, Triangular mouth, Broad nasal tip, Short philtrum,... OMIM:169100
Beta-Mercaptolactate Cysteine Disulfiduria
High palate, Convex nasal ridge, Atrial septal defect, Hypoplasia of the ear cartilage, Arachnoda... ORPHA:1035
Juberg-Hayward Syndrome
Abnormal eyebrow morphology, Abnormality of finger, Hypoplasia of the radius, Scoliosis, Oral cle... ORPHA:2319
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 3
Depressed nasal bridge, Polydactyly, Epicanthus, Short nose, Hypoplastic ischia, Hypertelorism OMIM:616910
Van Der Woude Syndrome 2
Cleft upper lip, Anodontia, Cleft palate OMIM:606713
Distal Monosomy 10Q
Facial diplegia, High palate, Prominent fingertip pads, Craniosynostosis, Cleft palate, Tapered f... ORPHA:96148
Jackson-Weiss Syndrome
2-3 toe syndactyly, Convex nasal ridge, Short metatarsal, Split foot, Broad hallux phalanx, Symph... ORPHA:1540
Intellectual Developmental Disorder, Autosomal Recessive 74
Narrow palate, Brachydactyly, Prominent nose, Mandibular prognathia, Wide nasal bridge OMIM:617169
Metaphyseal Dysplasia Without Hypotrichosis
Metaphyseal irregularity, Cone-shaped epiphyses of the phalanges of the hand, Metaphyseal dysplas... OMIM:250460
Mitochondrial Myopathy And Sideroblastic Anemia
High palate, Kyphosis, Micrognathia, Long philtrum, Scoliosis, Short nose, Distichiasis ORPHA:2598
Non-Distal Monosomy 10Q
Clinodactyly of the 5th finger, Upslanted palpebral fissure, Overlapping fingers, Brachydactyly, ... ORPHA:1581
Spondyloperipheral Dysplasia-Short Ulna Syndrome
Flattened femoral head, Cleft palate, Abnormality of the vertebral endplates, Platyspondyly, Irre... ORPHA:1856
Brachydactyly-Distal Symphalangism Syndrome
Distal symphalangism of hands, Short 1st metacarpal, Type A1 brachydactyly, Chess-pawn distal pha... OMIM:113450
Acrofrontofacionasal Dysostosis
High palate, Short distal phalanx of finger, Cleft palate, Everted lower lip vermilion, Aplasia/H... ORPHA:1784
Neu-Laxova Syndrome 1
Ablepharon, Cleft palate, Micromelia, Ventricular septal defect, Small placenta, Rocker bottom fo... OMIM:256520
Multiple Epiphyseal Dysplasia, Beighton Type
Biconcave vertebral bodies, Arthralgia of the hip, Genu valgum, Intervertebral space narrowing, T... ORPHA:166011
Cerebrooculofacioskeletal Syndrome 3
Micrognathia, Microcephaly, Cleft palate OMIM:616570
Non-Syndromic Bicoronal Craniosynostosis
Metacarpal synostosis, Hypertelorism, Proptosis, Brachydactyly ORPHA:35099
Dysraphism-Cleft Lip/Palate-Limb Reduction Defects Syndrome
Ectopic anus, Hypoplastic left heart, Cleft palate, Anencephaly, Ventricular septal defect, Aplas... ORPHA:2476
Ohdo Syndrome
Narrow mouth, Clinodactyly of the 5th finger, Sparse eyebrow, Thin vermilion border, Micrognathia... OMIM:249620
Fallot Complex-Intellectual Disability-Growth Delay Syndrome
High palate, Double outlet right ventricle, Atrial septal defect, Overriding aorta, Pulmonic sten... ORPHA:3304
Trisomy 12P
Clinodactyly of the 5th finger, Thick eyebrow, Malar flattening, Cleft palate, Everted lower lip ... ORPHA:1699
Blepharocheilodontic Syndrome 2
Tooth agenesis, Cutaneous syndactyly, Euryblepharon, Distichiasis, Conical tooth, Hypertelorism, ... OMIM:617681
Intellectual Developmental Disorder, X-Linked 21
Upslanted palpebral fissure, Short nose, Tented upper lip vermilion, Synophrys, Open mouth, Denta... OMIM:300143
Anauxetic Dysplasia 2
Coxa vara, Metaphyseal dysplasia, Hypoplastic iliac body, Hypodontia, Macroglossia, Short neck, C... OMIM:617396
Urban-Rogers-Meyer Syndrome
Kyphosis, Clinodactyly of the 5th finger, Upslanted palpebral fissure, Micrognathia, Camptodactyl... ORPHA:3409
Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb
Bulbous nose, Bicuspid aortic valve, Coarctation of aorta, Broad hallux, Broad thumb, Patent duct... OMIM:612474
Acrocapitofemoral Dysplasia
Cone-shaped epiphyses of the phalanges of the hand, Hypoplasia of the radius, Cone-shaped epiphys... OMIM:607778
Trichothiodystrophy 9, Nonphotosensitive
Dental malocclusion, High, narrow palate, Sparse eyebrow, Brachydactyly, Epicanthus OMIM:619692
11Q22.2Q22.3 Microdeletion Syndrome
Clinodactyly of the 5th finger, Thick eyebrow, High, narrow palate, Small hand, Micrognathia, Dep... ORPHA:444002
Tetraamelia Syndrome 2
Microretrognathia, Glossoptosis, Micrognathia, Ventricular septal defect, Hypoplastic pulmonary v... OMIM:618021
Baraitser-Winter Syndrome 1
Wide mouth, Overfolded helix, Short nose, Cleft upper lip, Retrognathia, Long palpebral fissure, ... OMIM:243310
Freeman-Sheldon Syndrome
Narrow mouth, Deeply set eye, Talipes equinovarus, Depressed nasal ridge, Abnormality of the dent... ORPHA:2053
Thakker-Donnai Syndrome
Cervical C2/C3 vertebral fusion, Anal atresia, Bulbous nose, Narrow mouth, Congenital diaphragmat... ORPHA:1780
Multiple Synostoses Syndrome 1
Hypoplastic nasal septum, Short sternum, Clinodactyly of the 4th toe, Short philtrum, Symphalangi... OMIM:186500
Vacterl Association, X-Linked, With Or Without Hydrocephalus
Anal atresia, Hydrocephalus, Urethral atresia, Atrioventricular canal defect, Tracheoesophageal f... OMIM:314390
Spinocerebellar Ataxia, Autosomal Recessive 20
High palate, Dental crowding, Talipes equinovarus, Short palpebral fissure, Macroglossia, Long ph... OMIM:616354
Metaphyseal Chondrodysplasia, Schmid Type
Femoral bowing, Platyspondyly, Short long bone, Metaphyseal irregularity, Metaphyseal cupping of ... ORPHA:174
Non-Distal Trisomy 13Q
High palate, Hypotelorism, Thick eyebrow, Everted lower lip vermilion, Thin vermilion border, Abn... ORPHA:1702
Primary Ciliary Dyskinesia
Hydrocephalus, Anomalous pulmonary venous return, Chronic sinusitis, Abnormal heart morphology, D... ORPHA:244
Otospondylomegaepiphyseal Dysplasia
Cleft palate, Abnormally ossified vertebrae, Depressed nasal bridge, Short neck, Platyspondyly, F... ORPHA:1427
Neurodevelopmental Disorder With Intention Tremor, Pyramidal Signs, Dyspraxia, And Ocular Anomalies
High palate, Lower limb hypertonia, Broad nasal tip, Long nose, Depressed nasal bridge, Brachydac... OMIM:619995
Pseudoachondroplasia
Fragmented epiphyses, Irregular carpal bones, Fragmented, irregular epiphyses, Platyspondyly, Sma... OMIM:177170
Peroxisome Biogenesis Disorder 12A (Zellweger)
Renal tubular dysfunction, Double outlet right ventricle, Hydrocephalus, Atrial septal defect, Pr... OMIM:614886
Spondylometaphyseal Dysplasia, Kozlowski Type
Abnormal humeral metaphysis morphology, Platyspondyly, Vertebral wedging, Short distal phalanx of... ORPHA:93314
Weaver-Williams Syndrome
Microcephaly, Narrow mouth, Cleft palate ORPHA:3448
Intellectual Developmental Disorder, Autosomal Dominant 21
Narrow mouth, Cleft palate, Thin vermilion border, Long philtrum, Single transverse palmar crease... OMIM:615502
Distal Trisomy 18Q
High palate, Clinodactyly of the 5th finger, Arachnodactyly, Micrognathia, Progressive interverte... ORPHA:1716
3C Syndrome
Abnormal mitral valve morphology, Hydrocephalus, Cleft palate, Atrioventricular canal defect, Dep... ORPHA:7
Chromosome 15Q26-Qter Deletion Syndrome
Talipes equinovarus, Micrognathia, Brachydactyly, Short middle phalanx of finger, Blepharophimosi... OMIM:612626
Intellectual Disability, Birk-Barel Type
High, narrow palate, Micrognathia, Short philtrum, Broad nasal tip, Narrow nasal bridge, Congenit... ORPHA:166108
Conotruncal Heart Malformations
Double outlet right ventricle, Coarctation of aorta, Complete atrioventricular canal defect, Tran... OMIM:217095
Otopalatodigital Syndrome Type 2
Abnormal cardiac septum morphology, Abnormal pinna morphology, Hydrocephalus, Cleft palate, Depre... ORPHA:90652
Nablus Mask-Like Facial Syndrome
High palate, Sparse eyebrow, Abnormality of the dentition, Depressed nasal bridge, Short neck, Ta... OMIM:608156
8Q12 Microduplication Syndrome
Sensorineural hearing impairment, Narrow mouth, Atrial septal defect, Everted lower lip vermilion... ORPHA:228399
Moebius Syndrome
High palate, Abnormality of the dentition, Depressed nasal bridge, Short neck, Hand clenching, Ta... OMIM:157900
Spondylometaphyseal Dysplasia With Cone-Rod Dystrophy
Dental malocclusion, Metaphyseal irregularity, Tibial bowing, Metaphyseal cupping, Coxa vara, Nar... OMIM:608940
Congenital Unilateral Hypoplasia Of Depressor Anguli Oris
Joint stiffness, Protruding ear, Tooth agenesis, Renal hypoplasia/aplasia, Congenital diaphragmat... ORPHA:1166
Triphalangeal Thumbs With Brachyectrodactyly
Short 2nd finger, Split foot, Brachydactyly, Triphalangeal thumb, Short 3rd toe, Split hand OMIM:190680
20P12.3 Microdeletion Syndrome
Narrow mouth, Atrial septal defect, Malar flattening, Microtia, Depressed nasal bridge, Broad hal... ORPHA:261295
Gillessen-Kaesbach-Nishimura Syndrome
Large fleshy ears, Ulnar deviation of the hand, Convex nasal ridge, Congenital diaphragmatic hern... OMIM:263210
Autosomal Dominant Omodysplasia
Hypertelorism, Malar flattening, Micrognathia, Depressed nasal bridge, Short humerus, Long philtr... ORPHA:93328
Dysostosis, Stanescu Type
Abnormality of the dentition, Short neck, Micromelia, Carious teeth, Proptosis, Abnormal epiphysi... ORPHA:1798
Orofacial Cleft 15
Bulbous nose, Sparse eyebrow, Upslanted palpebral fissure, Sparse eyelashes, Agenesis of lateral ... OMIM:616788
Craniofacial Dysplasia-Short Stature-Ectodermal Anomalies-Intellectual Disability Syndrome
Hydrocephalus, Cleft palate, Sparse eyebrow, Depressed nasal bridge, Downslanted palpebral fissur... ORPHA:459061
Intellectual Developmental Disorder, Autosomal Dominant 63, With Macrocephaly
High palate, Wide mouth, Low hanging columella, Long philtrum, Delayed eruption of teeth, Scolios... OMIM:618825
Bardet-Biedl Syndrome 7
Narrow mouth, 2-3 toe syndactyly, Deeply set eye, Malar flattening, Postaxial polydactyly, Depres... OMIM:615984
Al-Raqad Syndrome
Narrow mouth, Deeply set eye, Brachydactyly, Short nose, Sandal gap, Thin upper lip vermilion OMIM:616459
Intellectual Disability-Severe Speech Delay-Mild Dysmorphism Syndrome
Abnormality of the ear, Prominent fingertip pads, Broad nasal tip, Single transverse palmar creas... ORPHA:391372
Hamel Cerebro-Palato-Cardiac Syndrome
Narrow mouth, Atrial septal defect, Malar flattening, Cleft palate, Micrognathia, Microcephaly ORPHA:93946
Diabetes Insipidus, Neurohypophyseal
Wide nose, Short nose, Long philtrum, Hypertelorism OMIM:125700
Mcdonough Syndrome
Dental malocclusion, Kyphosis, Short palpebral fissure, Open bite, Micrognathia, Short philtrum, ... ORPHA:2471
Ascher Syndrome
High palate, Abnormal eyelid morphology, Upper eyelid edema, Abnormality of upper lip, Deviation ... ORPHA:1253
Ehlers-Danlos Syndrome, Musculocontractural Type, 2
High palate, Narrow mouth, Talipes equinovarus, Adducted thumb, Arachnodactyly, Long philtrum, Ca... OMIM:615539
Peroxisome Biogenesis Disorder 6A (Zellweger)
Renal cyst, Epiphyseal stippling, Low-set ears, Colpocephaly, Wide nasal bridge OMIM:614870
Fibrochondrogenesis 2
Metaphyseal cupping, Malar flattening, Micrognathia, Hypoplastic ilia, Platyspondyly, Metaphyseal... OMIM:614524
C Syndrome
High palate, Wide mouth, Micromelia, Ulnar deviation of finger, Ventricular septal defect, Short ... OMIM:211750
X-Linked Intellectual Disability-Dysmorphism-Cerebral Atrophy Syndrome
Bilateral talipes equinovarus, Retrognathia, Finger clinodactyly, Epicanthus, Prominent nose, Abn... ORPHA:2958
Intellectual Developmental Disorder With Cardiac Defects And Dysmorphic Facies
Depressed nasal bridge, Cutaneous syndactyly, Ventricular septal defect, Double outlet right vent... OMIM:618316
Carpenter Syndrome 2
High palate, Sparse eyebrow, Craniosynostosis, Depressed nasal bridge, Carious teeth, Single tran... OMIM:614976
Rhiny
Thin vermilion border, Short nose, Anteverted nares OMIM:180360
Chondrodysplasia Punctata, Tibia-Metacarpal Type
Malar flattening, Depressed nasal ridge, Short tibia, Micromelia, Short 3rd metacarpal, Limb unde... OMIM:118651
Camptodactyly Syndrome, Guadalajara, Type Ii
Hypotelorism, Talipes equinovarus, Micrognathia, Camptodactyly of finger, Short neck, Long philtr... OMIM:211920
Tetrasomy 18P
Narrow mouth, Thin vermilion border, Long philtrum, Scoliosis, Downslanted palpebral fissures, Ep... ORPHA:3307
Waardenburg Syndrome, Type 3
Carpal synostosis, Joint contracture of the hand, Cutaneous finger syndactyly, Camptodactyly of f... OMIM:148820
Joubert Syndrome 14
Hydrocephalus, Malar flattening, Postaxial polydactyly, Open mouth, Encephalocele, Short philtrum... OMIM:614424
Rubinstein-Taybi Syndrome
High palate, Abnormality of the dentition, Carious teeth, Downslanted palpebral fissures, Clinoda... ORPHA:783
Meckel Syndrome, Type 10
Abnormal pinna morphology, Ulnar deviation of the hand, Cleft palate, Micropenis, Postaxial polyd... OMIM:614175
Taurodontism, Microdontia, And Dens Invaginatus
Dens in dente, Taurodontia, Microdontia, Pulp calcification OMIM:313490
Oligodontia
Eclabion, Abnormality of canine, Delayed eruption of teeth, Microdontia, Hypoplasia of teeth, Peg... ORPHA:99798
Auriculocondylar Syndrome 2
Dental malocclusion, Narrow mouth, Macrocephaly, Cleft palate, Short mandibular rami, Glossoptosi... OMIM:614669
Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency
High palate, Wide mouth, Bulbous nose, Depressed nasal bridge, Ventricular septal defect, Short n... ORPHA:369891
Mosaic Trisomy 14
High palate, Wide mouth, Cleft palate, Micrognathia, Camptodactyly of finger, Short neck, Bilater... ORPHA:1703
Intellectual Developmental Disorder, X-Linked 30
High palate, Thick upper lip vermilion, Deeply set eye, Prominent fingertip pads, Upslanted palpe... OMIM:300558
Anauxetic Dysplasia 1
Short neck, Platyspondyly, Microdontia, Rhizomelia, Small epiphyses, Cervical subluxation, Mandib... OMIM:607095
Pentasomy X
Clinodactyly of the 5th finger, Upslanted palpebral fissure, Small hand, Micrognathia, Camptodact... ORPHA:11
Heterotaxy, Visceral, 6, Autosomal
Double outlet right ventricle, Hypoplastic left heart, Unbalanced atrioventricular canal defect, ... OMIM:614779
Intellectual Disability And Myopathy Syndrome
Dental malocclusion, Lumbar hyperlordosis, Hypotelorism, Broad nasal tip, Congenital hip dislocat... OMIM:619719
Fibuloulnar Aplasia Or Hypoplasia With Renal Abnormalities
Abnormal pinna morphology, Micrognathia, Syndactyly, Neonatal death, Hypoplasia of the ulna, Vent... OMIM:228940
Combined Oxidative Phosphorylation Deficiency 25
Depressed nasal bridge, Long philtrum, Short nose, Anteverted nares, Hypertelorism, Wide nasal br... OMIM:616430
Spondyloperipheral Dysplasia
Cone-shaped epiphyses of the phalanges of the hand, Platyspondyly, Shortening of all proximal pha... OMIM:271700
Short-Rib Thoracic Dysplasia 2 With Or Without Polydactyly
Brachydactyly, Broad palm, Postaxial hand polydactyly, Mesomelia, Rhizomelia, Short foot, Short m... OMIM:611263
Malan Syndrome
Gingival overgrowth, Narrow mouth, Everted lower lip vermilion, Retrognathia, Advanced eruption o... OMIM:614753
Syndactyly, Type V
Short distal phalanx of finger, Carpal synostosis, 3-4 toe syndactyly, Joint contracture of the h... OMIM:186300
Feingold Syndrome Type 2
Microcephaly, Ventricular septal defect, Short middle phalanx of finger, Jejunal atresia, Short t... ORPHA:391646
Orofaciodigital Syndrome Iv
High palate, Accessory oral frenulum, Cleft palate, Postaxial polydactyly, Micrognathia, Short ti... OMIM:258860
Chand Syndrome
Agenesis of maxillary incisor, Short fifth metatarsal, Ankyloblepharon, Cleft palate, Depressed n... ORPHA:1401
Trisomy 1Q
Hydrocephalus, Cleft palate, Depressed nasal bridge, Ventricular septal defect, Downslanted palpe... ORPHA:261344
Perlman Syndrome
Deeply set eye, High, narrow palate, Retrognathia, Micrognathia, Wide nasal bridge, Abnormality o... ORPHA:2849
Craniosynostosis 3
Dental malocclusion, Brachydactyly, Single transverse palmar crease, Hallux valgus, Ptosis OMIM:615314
Stickler Syndrome Type 1
Cleft palate, Platyspondyly, Long philtrum, Abnormality of vertebral epiphysis morphology, Short ... ORPHA:90653
Agenesis Of The Corpus Callosum With Peripheral Neuropathy
Facial diplegia, High palate, 2-3 toe syndactyly, Low anterior hairline, Decreased sensory nerve ... OMIM:218000
Chromosome 9P Deletion Syndrome
High palate, Narrow mouth, Narrow palate, Atrial septal defect, High, narrow palate, Malar flatte... OMIM:158170
Intellectual Disability-Brachydactyly-Pierre Robin Syndrome
Bulbous nose, Cleft palate, Abnormality of canine, Short nose, Tented upper lip vermilion, Agenes... ORPHA:364577
Spinocerebellar Ataxia-Dysmorphism Syndrome
Spina bifida occulta, Slender long bone, Downturned corners of mouth, Epicanthus, Short nose, Ant... ORPHA:1185
Abruzzo-Erickson Syndrome
Sensorineural hearing impairment, Conductive hearing impairment, Short toe, Atrial septal defect,... ORPHA:921
Prieto Syndrome
Talipes equinovarus, Retrognathia, Abnormality of the dentition, Epicanthus, Prominent nose, Clin... OMIM:309610
Odontochondrodysplasia 1
Cone-shaped epiphyses of the phalanges of the hand, Platyspondyly, Micromelia, Delayed eruption o... OMIM:184260
Spondylometaphyseal Dysplasia, Schmidt Type
Abnormality of the epiphysis of the femoral head, Coxa vara, Kyphoscoliosis, Metaphyseal dysplasi... ORPHA:93316
Thumb Stiffness-Brachydactyly-Intellectual Disability Syndrome
Abnormal thumb morphology, Abnormal metacarpal morphology, Type A brachydactyly ORPHA:1078
Ulnar/Fibula Ray Defect-Brachydactyly Syndrome
Aplasia/Hypoplasia of the ulna, Talipes equinovarus, Malar flattening, Aplasia/Hypoplasia of the ... ORPHA:52056
Short Ulna-Dysmorphism-Hypotonia-Intellectual Disability Syndrome
Malar flattening, Everted lower lip vermilion, Micrognathia, Long philtrum, Downslanted palpebral... ORPHA:357175
Aarskog-Scott Syndrome
Cleft palate, Short neck, Downslanted palpebral fissures, Single transverse palmar crease, Short ... OMIM:305400
Female Restricted Epilepsy With Intellectual Disability
Status epilepticus, Atypical absence seizure, Atonic seizure, Generalized myoclonic seizure, Abno... ORPHA:101039
Hajdu-Cheney Syndrome
High palate, Abnormal cardiac septum morphology, Hydrocephalus, Short nail, Foot acroosteolysis, ... OMIM:102500
Congenital Heart Defect-Round Face-Developmental Delay Syndrome
Narrow mouth, Abnormal oral cavity morphology, Depressed nasal ridge, Short nose, Anteverted nares ORPHA:1355
Orofaciodigital Syndrome Viii
High palate, Cleft palate, Broad nasal tip, Short tibia, Syndactyly, Polydactyly, Telecanthus, Bi... OMIM:300484
Coffin-Siris Syndrome 5
Short distal phalanx of finger, Wide mouth, Sparse scalp hair, Low anterior hairline, Atrial sept... OMIM:616938
Intellectual Disability-Strabismus Syndrome
High palate, Wide mouth, Depressed nasal bridge, Abnormality of the dentition, Short nose, Rocker... ORPHA:363528
Bryant-Li-Bhoj Neurodevelopmental Syndrome 1
Wide mouth, Sparse eyebrow, Depressed nasal bridge, Tapered finger, Single transverse palmar crea... OMIM:619720
Fibulo-Ulnar Hypoplasia-Renal Anomalies Syndrome
Finger syndactyly, Micrognathia, Depressed nasal bridge, Aplasia of the proximal phalanges of the... ORPHA:2256
Dyssegmental Dysplasia With Glaucoma
Delayed epiphyseal ossification, Wide anterior fontanel, Malar flattening, Cleft palate, Flared m... OMIM:601561
Nabais Sa-De Vries Syndrome, Type 2
High palate, Bulbous nose, Clinodactyly of the 5th finger, Protruding ear, Hypoplastic left heart... OMIM:618829
Gms Syndrome
Small hand, Depressed nasal bridge, Short philtrum, Downslanted palpebral fissures, Epicanthus, S... OMIM:138770
Non-Syndromic Bilambdoid And Sagittal Craniosynostosis
Clinodactyly of the 5th finger, Abnormal oral cavity morphology, Micrognathia, Short philtrum, Sh... ORPHA:1516
Basel-Vanagaite-Smirin-Yosef Syndrome
Cleft palate, Sparse eyebrow, Short philtrum, Ventricular septal defect, Single transverse palmar... ORPHA:464738
Greig Cephalopolysyndactyly Syndrome
Finger syndactyly, Preaxial hand polydactyly, Broad hallux phalanx, Telecanthus, Postaxial hand p... ORPHA:380
Spondylometaphyseal Dysplasia, X-Linked
Kyphosis, Hyperextensibility of the finger joints, Depressed nasal bridge, Platyspondyly, Tapered... OMIM:313420
Osteoglophonic Dysplasia
High palate, Broad phalanx, Depressed nasal bridge, Shallow orbits, Short neck, Platyspondyly, Do... OMIM:166250
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 3
High palate, Depressed nasal bridge, Platyspondyly, Delayed eruption of teeth, Tapered finger, Do... OMIM:612350
Heart-Hand Syndrome Type 2
Abnormal morphology of ulna, Hand polydactyly, Abnormality of the dentition, Abnormality of the h... ORPHA:1350
Temple-Baraitser Syndrome
High palate, Wide mouth, Depressed nasal bridge, Short phalanx of the thumb, Delayed eruption of ... ORPHA:420561
Neurodevelopmental Disorder With Hypotonia And Cerebellar Atrophy, With Or Without Seizures
Dental crowding, Thin upper lip vermilion, Brachydactyly, Sparse lateral eyebrow OMIM:618879
Ectrodactyly-Polydactyly Syndrome
Ectrodactyly, Camptodactyly of finger, Brachydactyly, Symphalangism affecting the phalanges of th... ORPHA:1892
3P25.3 Microdeletion Syndrome
Cleft palate, Depressed nasal bridge, 2-3 finger syndactyly, Short philtrum, Tapered finger, Broa... ORPHA:435638
Facial Paresis, Hereditary Congenital, 3
Micrognathia, Depressed nasal bridge, Downturned corners of mouth, Epicanthus, Short nose, Anteve... OMIM:614744
Chromosome 22Q11.2 Duplication Syndrome
High palate, Velopharyngeal insufficiency, Depressed nasal ridge, Micrognathia, Downslanted palpe... OMIM:608363
Ring Chromosome 14 Syndrome
High palate, Depressed nasal ridge, Depressed nasal bridge, Short neck, Downslanted palpebral fis... OMIM:616606
Short Stature-Obesity Syndrome
Clinodactyly of the 5th finger, Micrognathia, Brachydactyly, Narrow nose, Micromelia, Limb underg... OMIM:269870
Paraplegia-Intellectual Disability-Hyperkeratosis Syndrome
Arachnodactyly, Long nose, Cone-shaped epiphysis, Micrognathia, Brachydactyly, Palmoplantar kerat... ORPHA:2824
Verheij Syndrome
Abnormal cardiac septum morphology, Renal agenesis, Short 5th finger, Long philtrum, Renal cyst, ... OMIM:615583
Intellectual Developmental Disorder, Autosomal Recessive 35
Malar flattening, Everted lower lip vermilion, Micrognathia, Long philtrum, Downturned corners of... OMIM:615162
Acrocallosal Syndrome
High palate, Abnormal cardiac septum morphology, Abnormal pinna morphology, Wide mouth, Triangula... OMIM:200990
Retinitis Pigmentosa-Juvenile Cataract-Short Stature-Intellectual Disability Syndrome
Dental malocclusion, Malar flattening, Upslanted palpebral fissure, Micrognathia, Short neck, Dia... ORPHA:436245
Tarp Syndrome
High palate, Short sternum, Cleft palate, Hypoplasia of the radius, Cutaneous syndactyly, Optic a... OMIM:311900
Fibular Aplasia-Complex Brachydactyly Syndrome
Abnormal morphology of ulna, Abnormal hip bone morphology, Aplasia/Hypoplasia of the fibula, Abno... ORPHA:2639
Kbg Syndrome
Cleft palate, Cutaneous syndactyly, Short neck, Macrodontia, Finger clinodactyly, Single transver...