Gene Summary

Name:
kynureninase
Synonyms:
4432411A05Rik,  L-kynurenine hydrolase

IMPC Data Collections

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.

Phenotype System Allele Zyg Sex Life Stage P Value
decreased exploration in new environment Kynuem1(IMPC)J HOM Early adult 5.47×10-09
increased circulating bilirubin level Kynuem1(IMPC)J HOM Early adult 5.82×10-07

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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.

X-ray

XRay Images Skull Dorso Ventral Orientation

10 Images

X-ray

XRay Images Skull Lateral Orientation

10 Images

X-ray

XRay Images Whole Body Lateral Orientation

10 Images

X-ray

XRay Images Forepaw

10 Images

X-ray

XRay Images Whole Body Dorso Ventral

10 Images

Eye Morphology

Images Ophthalmoscopy

1 Images

Auditory Brain Stem Response

Click-evoked + 6 to 30kHz tone waveforms (pdf format)

7 Images

Human diseases caused by Kynu 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 Kynu by orthology or direct annotation.

Disease Similarity of
phenotypes
Matching phenotypes Source
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 2
Vertebral segmentation defect, Chronic kidney disease, Hypoplastic left heart, Unilateral renal a... OMIM:617661
Hydroxykynureninuria
Abnormal circulating tryptophan concentration ORPHA:79155
Hydroxykynureninuria
Aminoaciduria OMIM:236800

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

Disease Similarity of
phenotypes
Matching phenotypes Source
Brachydactyly, Type C
Pseudoepiphysis of the 2nd finger, Triangular epiphysis of the middle phalanx of the 2nd finger, ... OMIM:113100
Crigler-Najjar Syndrome Type 2
Neonatal hyperbilirubinemia, Unconjugated hyperbilirubinemia ORPHA:79235
Jaundice, Familial Obstructive, Of Infancy
Neonatal hyperbilirubinemia OMIM:308600
Hyperbilirubinemia, Conjugated, Type Iii
Conjugated hyperbilirubinemia OMIM:237550
Hyperbilirubinemia, Transient Familial Neonatal
Neonatal unconjugated hyperbilirubinemia OMIM:237900
Crigler-Najjar Syndrome, Type Ii
Unconjugated hyperbilirubinemia OMIM:606785
Synpolydactyly 1
Clinodactyly of the 5th finger, Mesoaxial hand polydactyly, 6 metacarpals, 2nd-5th toe middle pha... OMIM:186000
Polydactyly, Preaxial Ii
Preaxial foot polydactyly, Syndactyly, Duplication of thumb phalanx, Postaxial hand polydactyly, ... OMIM:174500
Glutathione Peroxidase Deficiency
Neonatal hyperbilirubinemia OMIM:614164
Syndactyly Type 2
Clinodactyly of the 5th finger, 2-3 toe syndactyly, Camptodactyly of finger, Symphalangism affect... ORPHA:93403
Congenital Absence Of Upper Arm And Forearm With Hand Present
Abnormal cardiac septum morphology, Cleft palate, Abnormal hip bone morphology, Upper limb phocom... ORPHA:294975
Hemolytic Anemia Due To Glutathione Reductase Deficiency
Hyperbilirubinemia OMIM:618660
Hyperbilirubinemia, Rotor Type
Conjugated hyperbilirubinemia OMIM:237450
Congenital Radioulnar Synostosis
Dislocated radial head, Abnormality of the musculature of the upper arm, Talipes equinovarus, Abn... ORPHA:3269
Hypercholanemia, Familial, 2
Unconjugated hyperbilirubinemia, Increased serum bile acid concentration OMIM:619256
Arthrogryposis, Distal, Type 2B2
Short toe, Narrow mouth, Talipes equinovarus, Adducted thumb, Talipes equinovalgus, Overlapping f... OMIM:618435
Chromosome 2Q31.1 Duplication Syndrome
Talipes equinovarus, Absent thumb, 3-4 finger cutaneous syndactyly, Triphalangeal thumb, Short thumb OMIM:613681
Dubin-Johnson Syndrome
Conjugated hyperbilirubinemia OMIM:237500
Crigler-Najjar Syndrome, Type I
Unconjugated hyperbilirubinemia OMIM:218800
Crigler-Najjar Syndrome Type 1
Neonatal hyperbilirubinemia, Unconjugated hyperbilirubinemia, Memory impairment ORPHA:79234
Symphalangism With Multiple Anomalies Of Hands And Feet
Symphalangism affecting the phalanges of the toes, Symphalangism of the 4th finger, Abnormal palm... ORPHA:3246
Arthrogryposis, Distal, Type 1C
High palate, Metacarpophalangeal joint contracture, Narrow mouth, Clinodactyly of the 5th finger,... OMIM:619110
Brachydactyly, Type A1, C
Short distal phalanx of finger, Bilateral talipes equinovarus, Short middle phalanx of the 2nd fi... OMIM:615072
Syndactyly Type 1
Symphalangism affecting the phalanges of the hand, Finger syndactyly, Toe syndactyly ORPHA:93402
Syndactyly, Type Iii
Syndactyly, Short 5th finger, Absent middle phalanx of 5th finger, 4-5 finger syndactyly OMIM:186100
Cholestasis, Progressive Familial Intrahepatic, 11
Increased serum bile acid concentration, Abnormal circulating bilirubin concentration OMIM:619874
Epiphyseal Dysplasia, Multiple, 4
Epiphyseal dysplasia, Flat capital femoral epiphysis, Talipes equinovarus, Brachydactyly, Hypopla... OMIM:226900
Brachydactyly Type A4
Talipes equinovarus, Shortening of all middle phalanges of the toes, Short middle phalanx of the ... ORPHA:93394
Spondyloepimetaphyseal Dysplasia With Joint Laxity
High palate, Cleft palate, Platyspondyly, Ulnar deviation of finger, Abnormal epiphysis morpholog... ORPHA:93359
Symphalangism With Multiple Anomalies Of Hands And Feet
Proximal symphalangism of hands, Absent dorsal skin creases over affected joints, Small thenar em... OMIM:185750
Acrocephalopolysyndactyly Type Iv
Joint contracture of the hand, Hand polydactyly, Syndactyly, Camptodactyly, Ulnar deviation of th... OMIM:201020
Aase-Smith Syndrome
Talipes equinovarus, Slender finger, Cleft palate, Abnormal hip bone morphology, Camptodactyly of... ORPHA:916
Chromosome 17Q23.1-Q23.2 Duplication Syndrome
Talipes equinovarus, Hip dysplasia, Genu valgum, Coxa valga, Acetabular dysplasia OMIM:613618
Intellectual Disability-Spasticity-Ectrodactyly Syndrome
Clinodactyly of the 5th finger, Abnormal hip bone morphology, Bilateral single transverse palmar ... ORPHA:1891
Gordon Syndrome
High palate, Clinodactyly of the 5th finger, Cleft palate, Camptodactyly of finger, Scoliosis, Ta... ORPHA:376
Diastrophic Dysplasia
Cervical kyphosis, Kyphoscoliosis, Lumbar hyperlordosis, Talipes equinovarus, Hypoplastic cervica... OMIM:222600
Hallux Varus And Preaxial Polysyndactyly
Broad hallux, Syndactyly, Hallux varus, Preaxial hand polydactyly OMIM:234280
Rotor Syndrome
Conjugated hyperbilirubinemia, Hyperbilirubinemia ORPHA:3111
Crossed Polysyndactyly
Hypoplasia of penis, Postaxial hand polydactyly, Abnormality of the philtrum, Aplasia/Hypoplasia ... ORPHA:2935
Malaria
Elevated circulating C-reactive protein concentration, Hyperbilirubinemia, Cognitive impairment ORPHA:673
Atelosteogenesis, Type Ii
Lumbar hyperlordosis, Talipes equinovarus, Coronal cleft vertebrae, Cleft palate, Bifid humerus, ... OMIM:256050
Red Cell Phospholipid Defect With Hemolysis
Hyperbilirubinemia OMIM:179700
Robin Sequence-Oligodactyly Syndrome
Clinodactyly of the 5th finger, Abnormal morphology of ulna, Cleft palate, Hand oligodactyly, Glo... ORPHA:3104
Pseudodiastrophic Dysplasia
Talipes equinovarus, Platyspondyly, Scoliosis, Phalangeal dislocation, Rhizomelia, Elbow dislocation ORPHA:85174
Brachydactyly Type A1
Broad metacarpals, Clinodactyly of the 5th finger, Talipes equinovarus, Distal symphalangism of h... ORPHA:93388
Pierre Robin Sequence With Facial And Digital Anomalies
Short distal phalanx of finger, Clinodactyly of the 5th finger, Easily subluxated first metacarpo... OMIM:311895
Syndactyly, Type Iv
2-3 toe syndactyly, 1-5 finger complete cutaneous syndactyly, Postaxial polydactyly, Polydactyly,... OMIM:186200
Multiple Synostoses Syndrome 3
Cleft palate, Limited interphalangeal movement, Cutaneous syndactyly of toes, Metatarsal synostos... OMIM:612961
Arthrogryposis, Distal, Type 7
Talipes equinovarus, Cutaneous syndactyly of toes, Hammertoe, Deep philtrum, Metatarsus adductus,... OMIM:158300
Radioulnar Synostosis-Microcephaly-Scoliosis Syndrome
Clinodactyly of the 5th finger, Abnormality of the dentition, Scoliosis, Radioulnar synostosis, A... ORPHA:3268
Ulnar/Fibula Ray Defect-Brachydactyly Syndrome
Aplasia/Hypoplasia of the ulna, Atrial septal defect, Talipes equinovarus, Aplasia/Hypoplasia of ... ORPHA:52056
Split-Hand/Foot Malformation 1
Ectrodactyly, Hand oligodactyly, Cleft palate, Split foot, Syndactyly, Broad hallux, Triphalangea... OMIM:183600
Keratoderma-Ichthyosis-Deafness Syndrome, Autosomal Recessive
Autoamputation of digits, Talipes equinovarus, Congenital palmoplantar hyperkeratosis OMIM:620009
Cholestasis, Progressive Familial Intrahepatic, 12
Conjugated hyperbilirubinemia, Hyperbilirubinemia, Increased serum bile acid concentration OMIM:620010
Citrullinemia, Type Ii, Neonatal-Onset
Hyperbilirubinemia, Decreased HDL cholesterol concentration, Hypermethioninemia, Hypertriglycerid... OMIM:605814
Acropectorovertebral Dysplasia
Finger syndactyly, Radial deviation of the 2nd finger, Synostosis of carpal bones, Spina bifida o... OMIM:102510
Syndactyly Type 5
Short distal phalanx of finger, Clinodactyly of the 5th finger, 2-3 toe syndactyly, Camptodactyly... ORPHA:93406
Atelosteogenesis, Type Iii
Tibial bowing, Radial bowing, Talipes equinovarus, Knee dislocation, Cleft palate, Horizontal sac... OMIM:108721
Gilbert Syndrome
Unconjugated hyperbilirubinemia OMIM:143500
Arthrogryposis, Distal, Type 1B
Rocker bottom foot, Talipes equinovarus, Joint contracture of the hand, Camptodactyly OMIM:614335
Santos Syndrome
Talipes equinovarus, Postaxial polydactyly, Preaxial polydactyly, Syndactyly, Brachydactyly, Poly... OMIM:613005
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 3
Double outlet right ventricle, Vertebral segmentation defect, Bicuspid aortic valve, Talipes equi... OMIM:618845
Wahab Syndrome
Adducted thumb, Syndactyly, Camptodactyly, Clinodactyly, Short foot, Short palm, Short metacarpal... OMIM:615170
Holzgreve Syndrome
Cleft upper lip, Hypoplastic left heart, Cleft palate, Renal hypoplasia, Hand polydactyly OMIM:236110
Brachydactyly, Type B1
Joint contracture of the hand, Micropenis, Cutaneous finger syndactyly, Hypoplastic sacrum, Hemiv... OMIM:113000
Sprengel Deformity
Abnormality of the shoulder girdle musculature, Cleft palate, Shoulder muscle hypoplasia, Short n... ORPHA:3181
Cerebrooculofacioskeletal Syndrome 3
Talipes equinovarus, Cleft palate, Rocker bottom foot OMIM:616570
Microcephalic Osteodysplastic Dysplasia, Saul-Wilson Type
Cone-shaped epiphyses of the phalanges of the hand, Talipes equinovarus, Small hand, Platyspondyl... ORPHA:85172
Polydactyly, Postaxial, Type A5
Postaxial hand polydactyly, Cutaneous finger syndactyly, Syndactyly, Metacarpal synostosis OMIM:263450
Arthrogryposis, Distal, Type 2B3
Talipes equinovarus, Overlapping fingers, Scoliosis, Camptodactyly, Hallux valgus OMIM:618436
Edinburgh Malformation Syndrome
Neonatal hyperbilirubinemia OMIM:129850
Neuropathy, Hereditary Motor, With Myopathic Features
Distal upper limb muscle weakness, Talipes equinovarus, Pes cavus, Tongue fasciculations, Scapula... OMIM:619216
Familial Clubfoot Due To 17Q23.1Q23.2 Microduplication
Hip dysplasia, Talipes equinovarus ORPHA:238578
Simpson-Golabi-Behmel Syndrome, Type 2
High palate, Wide mouth, U-Shaped upper lip vermilion, Talipes equinovarus, Cleft palate, Micrope... OMIM:300209
Neuronopathy, Distal Hereditary Motor, Type Viii
Kyphosis, Talipes equinovarus, Scoliosis, Hyperlordosis, Proximal lower limb amyotrophy, Pes plan... OMIM:600175
Disorganization, Mouse, Homolog Of
Cleft upper lip, Cleft palate, Sacral meningocele, Limb duplication, Hand polydactyly, Hip disloc... OMIM:223200
Moderate Multiminicore Disease With Hand Involvement
Intrinsic hand muscle atrophy, Distal upper limb muscle weakness, Talipes equinovarus, Knee dislo... ORPHA:178145
Camptosynpolydactyly, Complex
Cutaneous syndactyly, Syndactyly, Polydactyly, Camptodactyly OMIM:607539
Intellectual Developmental Disorder, X-Linked, Syndromic, Stocco Dos Santos Type
Kyphosis, Talipes equinovarus, Small hand, Scoliosis, Short foot, Hip dislocation OMIM:300434
Intellectual Developmental Disorder, Autosomal Recessive 33
Short toe, Syndactyly OMIM:614341
Congenital Disorder Of Glycosylation, Type Iig
High palate, Vertebral segmentation defect, Butterfly vertebrae, Abnormal isoelectric focusing of... OMIM:611209
Camptodactyly With Muscular Hypoplasia, Skeletal Dysplasia, And Abnormal Palmar Creases
Talipes equinovarus, Joint contracture of the hand, Small thenar eminence, Dermatoglyphic ridges ... OMIM:211960
Syndactyly Type 3
Short toe, Finger syndactyly, Camptodactyly of finger ORPHA:93404
Brachydactyly Type A7
Medially deviated second toe, Clinodactyly of the 5th finger, Short 2nd finger, 2-3 toe syndactyl... ORPHA:93397
Hyperekplexia 4
High palate, Kyphoscoliosis, Talipes equinovarus, Adducted thumb, Camptodactyly, Umbilical hernia OMIM:618011
Kyphoscoliosis-Lateral Tongue Atrophy-Hereditary Spastic Paraplegia Syndrome
Kyphoscoliosis, Talipes equinovarus, Knee flexion contracture, Tongue atrophy, Upper limb amyotro... ORPHA:496689
Radio-Ulnar Synostosis-Amegakaryocytic Thrombocytopenia Syndrome
Clinodactyly of the 5th finger, Hip dysplasia, Finger syndactyly, Radioulnar synostosis ORPHA:71289
Cystinuria
Nephrolithiasis, Abnormality of amino acid metabolism, Hematuria, Renal insufficiency ORPHA:214
Split-Hand/Foot Malformation 4
Ectrodactyly, Aplasia/Hypoplasia of the phalanges of the toes, Split foot, Syndactyly, Triphalang... OMIM:605289
Whistling Face Syndrome, Recessive Form
High palate, Narrow mouth, Kyphoscoliosis, Talipes equinovarus, Short neck, Long philtrum, Ulnar ... OMIM:277720
Brachydactyly, Type A2
Medially deviated second toe, Clinodactyly of the 5th finger, 2-3 toe syndactyly, Triangular shap... OMIM:112600
Contractures, Pterygia, And Spondylocarpotarsal Fusion Syndrome 1B
Talipes equinovarus, Cleft palate, Fused thoracic vertebrae, Short neck, Scoliosis, Fused cervica... OMIM:618469
Multiple Epiphyseal Dysplasia Type 4
High palate, Short metacarpal, Cleft palate, Upper limb undergrowth, Arthralgia of the hip, Abnor... ORPHA:93307
Camptodactyly Syndrome, Guadalajara Type 2
Talipes equinovarus, Camptodactyly of finger, Short 3rd toe, Cuboid-shaped vertebral bodies, Hip ... ORPHA:1326
Aphalangia, Partial, With Syndactyly And Duplication Of Metatarsal Iv
Kyphoscoliosis, Syndactyly, Aplasia/Hypoplasia of toe, Duplication of metatarsal bones, Cutaneous... OMIM:600384
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
Arthrogryposis, Distal, Type 11
Limited pronation/supination of forearm, Talipes equinovarus, Camptodactyly, Metatarsus adductus,... OMIM:620019
Pierre Robin Syndrome And Oligodactyly
Hand oligodactyly, Pierre-Robin sequence, Cleft palate OMIM:172880
Desbuquois Dysplasia 1
Radial deviation of the 2nd finger, Short 1st metacarpal, Monkey wrench femoral neck, Short neck,... OMIM:251450
Arthrogryposis, Distal, Type 3
High palate, Overlapping toe, Kyphoscoliosis, Lumbar hyperlordosis, Talipes equinovarus, Cleft pa... OMIM:114300
Scapuloperoneal Syndrome, Neurogenic, Kaeser Type
Talipes equinovarus, Peroneal muscle atrophy OMIM:181400
Cholestasis, Progressive Familial Intrahepatic, 10
Increased total bilirubin, Conjugated hyperbilirubinemia, Hypoalbuminemia, Hypercholesterolemia, ... OMIM:619868
Spastic Paraplegia 33, Autosomal Dominant
Ankle clonus, Talipes equinovarus OMIM:610244
Erythema Of Acral Regions
Abnormality of the dentition, Talipes equinovarus OMIM:227000
Acropectoral Syndrome
Preaxial hand polydactyly, Finger syndactyly ORPHA:85203
Mesoaxial Synostotic Syndactyly With Phalangeal Reduction
Clinodactyly of the 5th finger, 2-3 toe syndactyly, Aplasia/Hypoplasia of the hallux, Finger synd... ORPHA:157801
Pseudodiastrophic Dysplasia
Lumbar hyperlordosis, Talipes equinovarus, Tongue-like lumbar vertebral deformities, Short neck, ... OMIM:264180
X-Linked Intellectual Disability-Ataxia-Apraxia Syndrome
Talipes equinovarus ORPHA:85338
Spondyloperipheral Dysplasia-Short Ulna Syndrome
Flattened femoral head, Cleft palate, Hip dysplasia, Aplasia/hypoplasia involving bones of the ex... ORPHA:1856
Split hand/foot malformation 1 (SHFM1)
2-3 toe syndactyly, Cleft palate, Split foot, Median cleft lip, Split hand, Cutaneous finger synd... DECIPHER:46
Heart-Hand Syndrome, Slovenian Type
Aplasia of the middle phalanx of the hand, Brachydactyly, Syndactyly, Dilated cardiomyopathy, Cli... OMIM:610140
Multiple Epiphyseal Dysplasia With Robin Phenotype
Dislocated radial head, Coxa vara, Talipes equinovarus, Flat capital femoral epiphysis, Cleft pal... OMIM:601560
Ventriculomegaly And Arthrogryposis
Talipes equinovarus, Hand clenching, Ulnar deviation of the wrist OMIM:619501
Charcot-Marie-Tooth Disease, Type 4H
Talipes equinovarus, Small thenar eminence, Pes cavus, Scoliosis, Small hypothenar eminence, Dist... OMIM:609311
Meckel Syndrome, Type 8
Cleft upper lip, Talipes equinovarus, Cleft palate, Short neck, Polydactyly, Postaxial hand polyd... OMIM:613885
X-Linked Intellectual Disability, Stocco Dos Santos Type
Kyphosis, Talipes equinovarus, Congenital bilateral hip dislocation ORPHA:85288
Polydactyly, Postaxial, Type A1
Preaxial polydactyly, Syndactyly, Postaxial hand polydactyly, Triphalangeal thumb, Broad thumb OMIM:174200
Essential Fructosuria
Abnormal urine carbohydrate level, Impairment of fructose metabolism ORPHA:2056
Chromosome 2Q35 Duplication Syndrome
Distal symphalangism of hands, 3-4 finger syndactyly, Cutaneous syndactyly, 2-3 toe syndactyly OMIM:185900
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2A, Childhood Onset, Autosomal Dominant
Kyphosis, Talipes equinovarus, Pes cavus, Hyporeflexia of lower limbs, Scoliosis, Hyperlordosis, ... OMIM:615290
Liebenberg Syndrome
Radially deviated wrists, Metaphyseal widening, 2-3 finger syndactyly, Brachydactyly, Joint contr... OMIM:186550
Spinal Muscular Atrophy With Mental Retardation
Syndactyly OMIM:271109
Weaver Syndrome
Talipes equinovarus, Hypoplasia of penis, Camptodactyly of finger, Pes cavus, Long philtrum, Scol... ORPHA:3447
Fibular Aplasia Or Hypoplasia, Femoral Bowing And Poly-, Syn-, And Oligodactyly
Aplasia/Hypoplasia of the ulna, Hypoplasia of the radius, Femoral bowing, Congenital hip dislocat... OMIM:228930
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2B, Prenatal Onset, Autosomal Dominant
Kyphosis, Talipes equinovarus, Overlapping fingers, Congenital hip dislocation, Scoliosis, Abnorm... OMIM:618291
Masa Syndrome
Kyphosis, Talipes equinovarus, Adducted thumb, Pes cavus, Hyperlordosis OMIM:303350
Arthrogryposis, Distal, Type 2E
Narrow mouth, Talipes equinovarus, Joint contracture of the hand OMIM:121070
Syndactyly Type 4
Short tibia, Camptodactyly of finger, 6 metacarpals, Triphalangeal thumb, Hand polydactyly, Foot ... ORPHA:93405
Ectrodactyly-Polydactyly Syndrome
Ectrodactyly, Camptodactyly of finger, Brachydactyly, Symphalangism affecting the phalanges of th... ORPHA:1892
Femoral-Facial Syndrome
Vertebral segmentation defect, Preaxial foot polydactyly, Coxa vara, Talipes equinovarus, Aplasia... ORPHA:1988
Classic Homocystinuria
High palate, Kyphosis, Arachnodactyly, Scoliosis, Abnormality of amino acid metabolism, Genu valg... ORPHA:394
Chromosome 17P13.3, Telomeric, Duplication Syndrome
Ectrodactyly, Talipes equinovarus, Brachydactyly, Oligodactyly, Split hand OMIM:612576
Hyperbilirubinemia, Shunt, Primary
Hyperbilirubinemia OMIM:237800
Catel-Manzke Syndrome
Clinodactyly of the 5th finger, Atrial septal defect, Cleft palate, Radial deviation of the 2nd f... ORPHA:1388
Braddock-Carey Syndrome 1
U-Shaped upper lip vermilion, Talipes equinovarus, Cleft palate, Everted lower lip vermilion, Sma... OMIM:619980
Carpenter Syndrome
Kyphoscoliosis, Talipes equinovarus, Brachydactyly, Polydactyly, Syndactyly, Postaxial hand polyd... ORPHA:65759
Catel-Manzke Syndrome
High palate, Cleft upper lip, Clinodactyly of the 5th finger, Talipes equinovarus, Hyperphalangy ... OMIM:616145
Brachydactyly-Syndactyly Syndrome
Short digit, Brachydactyly, Syndactyly, Short phalanx of finger, Camptodactyly, Oligodactyly, Fin... OMIM:610713
Ulna Metaphyseal Dysplasia Syndrome
Nephrolithiasis, Abnormal morphology of ulna, Abnormal metaphysis morphology, Abnormal hip bone m... ORPHA:1837
Arthrogryposis, Distal, Type 2B1
High palate, Narrow mouth, Talipes equinovarus, Camptodactyly of finger, Long philtrum, Scoliosis... OMIM:601680
Mesomelic Dwarfism-Cleft Palate-Camptodactyly Syndrome
Vertebral segmentation defect, Cleft palate, Abnormal hip bone morphology, Thin vermilion border,... ORPHA:2631
Multiple Epiphyseal Dysplasia, Al-Gazali Type
Delayed epiphyseal ossification, Triangular mouth, Spindle-shaped finger, Cutaneous syndactyly, G... ORPHA:166024
Spinal Muscular Atrophy, Distal, Autosomal Recessive, 4
Talipes equinovarus, Joint contracture of the hand, Scoliosis, Hyperlordosis OMIM:611067
Syndactyly, Type V
Short distal phalanx of finger, Carpal synostosis, 3-4 toe syndactyly, Joint contracture of the h... OMIM:186300
Aspartylglucosaminuria
Beaking of vertebral bodies, Malabsorption, Gingival overgrowth, Aspartylglucosaminuria, Abnormal... ORPHA:93
Fructosuria, Essential
Impairment of fructose metabolism OMIM:229800
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 4
Talipes equinovarus, Abnormal glycosylation, Hyperlordosis OMIM:611588
Acropectorovertebral Dysplasia
Short distal phalanx of finger, High, narrow palate, Cleft palate, Camptodactyly of finger, Synos... ORPHA:957
Intellectual Developmental Disorder, X-Linked, Syndromic, Siderius Type
Cleft palate, Arachnodactyly, Large hands, Cleft lip, Pes planus, Thoracic kyphosis, Long toe OMIM:300263
Split-Hand/Foot Malformation 6
Hand oligodactyly, Split foot, Split hand, Foot oligodactyly, Finger syndactyly, Toe syndactyly OMIM:225300
Arthrogryposis, Distal, Type 1A
Overlapping toe, Narrow mouth, Talipes equinovarus, Joint contracture of the hand, Adducted thumb... OMIM:108120
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2F
Upper limb amyotrophy, Talipes equinovarus ORPHA:99940
Cousin Syndrome
Cleft palate, Rhizomelia, Absent proximal finger flexion creases, Clinodactyly of the 5th finger,... OMIM:260660
Bardet-Biedl Syndrome 5
Syndactyly, Brachydactyly, Polydactyly, Micropenis OMIM:615983
Camptodactyly Syndrome, Guadalajara, Type Ii
Talipes equinovarus, Camptodactyly of finger, Short neck, Long philtrum, Brachydactyly, Slender l... OMIM:211920
Charlie M Syndrome
Narrow mouth, Tooth agenesis, Thin vermilion border, Short philtrum, Brachydactyly, Abnormal meta... ORPHA:1406
Congenital Arthrogryposis With Anterior Horn Cell Disease
High palate, Kyphosis, Talipes equinovarus, Areflexia of lower limbs, Hip dysplasia, Short neck, ... OMIM:611890
Metaphyseal Chondrodysplasia, Schmid Type
Femoral bowing, Platyspondyly, Short long bone, Metaphyseal cupping of proximal phalanges, Metaph... ORPHA:174
Lambert Syndrome
Wide mouth, Talipes equinovarus, Hypospadias OMIM:245550
Ectodermal Dysplasia, Ectrodactyly, And Macular Dystrophy Syndrome
Joint contracture of the hand, Syndactyly, Microdontia, Camptodactyly, Widely spaced teeth, Split... OMIM:225280
Kury-Isidor Syndrome
High palate, Talipes equinovarus, Triangular mouth, Short neck, Long philtrum, Brachydactyly, Sco... OMIM:619762
Microtriplication 11Q24.1
Clinodactyly of the 5th finger, Talipes equinovarus, Irregularly spaced teeth, Cleft palate, Smal... ORPHA:289522
Acrofacial Dysostosis, Palagonia Type
Cleft upper lip, Oligodontia, Scoliosis, Spina bifida occulta at S1, Unilateral cleft lip, Short ... OMIM:601829
Neurodevelopmental Disorder With Spasticity, Hypomyelinating Leukodystrophy, And Brain Abnormalities
Unilateral wrist flexion contracture, Talipes equinovarus, Overlapping fingers, Knee flexion cont... OMIM:616531
Moebius Syndrome
High palate, Talipes equinovarus, Micropenis, Abnormality of the dentition, Short neck, Brachydac... OMIM:157900
Tyrosinemia Type 2
Palmoplantar keratoderma, Abnormality of amino acid metabolism ORPHA:28378
Arthrogryposis, Distal, Type 4
Kyphosis, Talipes equinovarus, 2-5 finger cutaneous syndactyly, Camptodactyly of 2nd-5th fingers,... OMIM:609128
Multiple Synostoses Syndrome 2
Carpal synostosis, Talipes equinovarus, Vertebral fusion, Brachydactyly, Tarsal synostosis, Humer... OMIM:610017
Prieto Syndrome
Talipes equinovarus, Abnormality of the dentition, Patellar subluxation, Clinodactyly, Patellar d... OMIM:309610
Split-Foot Deformity With Mandibulofacial Dysostosis
Split hand, Toe syndactyly, Cleft palate, Split foot OMIM:183700
Microphthalmia With Limb Anomalies
High palate, Cleft upper lip, Tibial bowing, Talipes equinovarus, Cleft palate, Hand oligodactyly... OMIM:206920
Rhizomelic Syndrome, Urbach Type
High palate, Short distal phalanx of finger, Abnormality of the tongue, Kyphosis, Cleft palate, P... ORPHA:3098
Schwartz-Jampel Syndrome, Type 1
High palate, Pursed lips, Congenital hip dislocation, Micromelia, Short neck, Platyspondyly, Ante... OMIM:255800
Meckel Syndrome, Type 9
Limb undergrowth, Occipital encephalocele, Multicystic kidney dysplasia, Talipes equinovarus OMIM:614209
1Q21.1 Microduplication Syndrome
Talipes equinovarus, Hypospadias, Tetralogy of Fallot, Hip dislocation, Hip dysplasia ORPHA:250994
Spinocerebellar Ataxia, Autosomal Recessive 20
High palate, Dental crowding, Talipes equinovarus, Macroglossia, Long philtrum, Delayed eruption ... OMIM:616354
Fibular Hemimelia
Talipes equinovalgus, Structural foot deformity, Arthralgia of the hip, Abnormality of fibula mor... ORPHA:93323
Arthrogryposis Multiplex Congenita 2, Neurogenic Type
Talipes equinovarus OMIM:208100
Tibial Hemimelia
Cleft palate, Radial club hand, Hemivertebrae, Aplasia of the 2nd metacarpal, Talipes equinovarus... ORPHA:93322
Mesomelic Limb Shortening And Bowing
Bowing of the legs, Mesomelic leg shortening, Cleft palate, Camptodactyly of finger, Bowing of th... OMIM:249710
Dyggve-Melchior-Clausen Disease
Cone-shaped epiphyses of the phalanges of the hand, Femoral bowing, Short neck, Platyspondyly, Rh... OMIM:223800
Polydactyly, Preaxial Iv
1-5 toe syndactyly, Preaxial polydactyly, Duplication of thumb phalanx, 3-4 finger syndactyly, Dy... OMIM:174700
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 2
Epiphyseal dysplasia, Advanced ossification of carpal bones, Carpal synostosis, Talipes equinovar... OMIM:615349
Polycystic Liver Disease 1 With Or Without Kidney Cysts
Increased total bilirubin OMIM:174050
2Q32Q33 Microdeletion Syndrome
High palate, Narrow mouth, Clinodactyly of the 5th finger, Talipes equinovarus, Toe clinodactyly,... ORPHA:251019
Terminal Osseous Dysplasia
Mesomelic leg shortening, Short toe, Toe clinodactyly, Cleft palate, Camptodactyly of toe, Campto... OMIM:300244
Myopathy, Areflexia, Respiratory Distress, And Dysphagia, Early-Onset
High palate, Talipes equinovarus, Cleft palate, Camptodactyly of finger, Scoliosis, Tongue fascic... OMIM:614399
Spondyloepiphyseal Dysplasia Congenita
Coxa vara, Kyphosis, Lumbar hyperlordosis, Talipes equinovarus, Cleft palate, Atlantoaxial instab... OMIM:183900
Arthrogryposis, Distal, Type 5D
Talipes equinovarus, Cleft palate, Adducted thumb, Short neck, Scoliosis, Camptodactyly, Hyperlor... OMIM:615065
Chromosome 15Q26-Qter Deletion Syndrome
Abnormal cardiac septum morphology, Talipes equinovarus, Micropenis, Hypospadias, Brachydactyly, ... OMIM:612626
Nemaline Myopathy 11, Autosomal Recessive
High palate, Talipes equinovarus, Pes cavus, Scapular winging, Cardiomyopathy OMIM:617336
Spastic Paraplegia And Psychomotor Retardation With Or Without Seizures
Kyphosis, Lumbar hyperlordosis, Talipes equinovarus, Scoliosis, Hip dislocation OMIM:616756
Roussy-Lévy Syndrome
Urinary bladder sphincter dysfunction, Intrinsic hand muscle atrophy, Kyphoscoliosis, Talipes equ... ORPHA:3115
Maxillonasal Dysplasia
Short distal phalanx of finger, Tooth agenesis, Cleft palate, Open bite, Vertebral clefting, Low ... ORPHA:1248
Charcot-Marie-Tooth Disease, Type 4B1
Talipes equinovarus, Scoliosis OMIM:601382
Multinucleated Neurons, Anhydramnios, Renal Dysplasia, Cerebellar Hypoplasia, And Hydranencephaly
Clinodactyly of the 5th finger, Talipes equinovarus, 2-3 toe syndactyly, Cutaneous syndactyly, Sh... OMIM:236500
Spastic Paraplegia 47, Autosomal Recessive
High palate, Wide mouth, Talipes equinovarus, Genu recurvatum, Short philtrum, Pes planus, Acetab... OMIM:614066
Ulnar Hypoplasia With Mental Retardation
Bilateral ulnar hypoplasia, Talipes equinovarus, Limited elbow movement, Limitation of knee mobility OMIM:276821
15Q11Q13 Microduplication Syndrome
Clinodactyly of the 5th finger, Finger syndactyly ORPHA:238446
Charcot-Marie-Tooth Disease, Type 4B2
Kyphoscoliosis, Ulnar claw, Talipes equinovarus, Pes cavus, Hammertoe, Split hand OMIM:604563
Syndactyly, Mesoaxial Synostotic, With Phalangeal Reduction
Clinodactyly of the 5th finger, Aplasia/Hypoplasia of the hallux, Aplasia/Hypoplasia of the middl... OMIM:609432
Brachydactyly Type B
Short distal phalanx of finger, Broad hallux phalanx, Synostosis of carpal bones, Type B brachyda... ORPHA:93383
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly
Cleft palate, Femoral bowing, Cone-shaped epiphysis, Enlarged kidney, Hypoplasia of the ulna, Sho... OMIM:613091
Intellectual Disability-Facial Dysmorphism-Hand Anomalies Syndrome
Short distal phalanx of finger, Cervical C2/C3 vertebral fusion, Short distal phalanx of the thum... ORPHA:370010
Myopathic Ehlers-Danlos Syndrome
Kyphosis, Kyphoscoliosis, Talipes equinovarus, High, narrow palate, Joint contracture of the hand... ORPHA:536516
Holt-Oram Syndrome
Absent thumb, Hypoplasia of the radius, Finger clinodactyly, Ventricular septal defect, Hypoplasi... OMIM:142900
Spondyloepimetaphyseal Dysplasia, Strudwick Type
Metaphyseal irregularity, Coxa vara, Narrow greater sciatic notch, Cleft palate, Club-shaped prox... OMIM:184250
Spastic Paraplegia 64, Autosomal Recessive
Talipes equinovarus OMIM:615683
Charcot-Marie-Tooth Disease, Axonal, Type 2K
Split hand, Kyphoscoliosis, Talipes equinovarus OMIM:607831
Aarskog-Scott Syndrome
Cleft palate, Abnormality of the dentition, Short neck, Delayed eruption of teeth, Single transve... ORPHA:915
Pelvis-Shoulder Dysplasia
Cleft palate, Absent proximal finger flexion creases, Talipes equinovarus, Aplasia/Hypoplasia of ... ORPHA:2839
Mehmo Syndrome
Talipes equinovarus, Hypoplasia of penis, Micropenis, Tapered finger, Downturned corners of mouth... ORPHA:85282
Muscular Dystrophy, Autosomal Recessive, With Cardiomyopathy And Triangular Tongue
Talipes equinovarus, Macroglossia, Triangular tongue, Calf muscle hypertrophy, Dilated cardiomyop... OMIM:616827
Spastic Paraplegia 50, Autosomal Recessive
High palate, Wide mouth, Talipes equinovarus, Adducted thumb, Short philtrum OMIM:612936
Split-Hand/Foot Malformation 2
Split foot, Short phalanx of finger, Split hand, Short metacarpal, Finger syndactyly OMIM:313350
Contractural Arachnodactyly, Congenital
High palate, Short neck, Ulnar deviation of finger, Ventricular septal defect, Bowing of the long... OMIM:121050
Hypogonadism With Low-Grade Mental Deficiency And Microcephaly
Syndactyly, 2-4 toe syndactyly OMIM:241000
Brachydactyly Type B2
Short distal phalanx of finger, Short toe, Short distal phalanx of toe, Synostosis of carpal bone... ORPHA:140908
Charcot-Marie-Tooth Disease, Recessive Intermediate A
Pes cavus, Ulnar claw, Talipes equinovarus, Scoliosis OMIM:608340
Aminopterin Syndrome Sine Aminopterin
High palate, Thoracic scoliosis, Joint contracture of the hand, Cleft palate, Arachnodactyly, Oli... OMIM:600325
Lethal Kniest-Like Dysplasia
Hypoplastic vertebral bodies, Talipes equinovarus, Atrial septal defect, Cleft palate, Hypoplasti... ORPHA:2347
Bruck Syndrome 1
Coxa vara, Kyphosis, Talipes equinovarus, Platyspondyly, Scoliosis, Protrusio acetabuli, Elbow fl... OMIM:259450
Biliary Atresia, Extrahepatic
Increased total bilirubin, Hyperbilirubinemia, Unconjugated hyperbilirubinemia OMIM:210500
Congenital Disorder Of Glycosylation, Type Iih
Talipes equinovarus, Bilateral coxa valga, Clinodactyly of the 4th toe, Finger clinodactyly, Scol... OMIM:611182
Rubinstein-Taybi Syndrome 2
High palate, Dental malocclusion, Narrow palate, Intestinal malrotation, Syndactyly, Carious teet... OMIM:613684
Ehlers-Danlos Syndrome, Musculocontractural Type, 2
High palate, Narrow mouth, Talipes equinovarus, Adducted thumb, Arachnodactyly, Long philtrum, Ca... OMIM:615539
Chromosome 17Q23.1-Q23.2 Deletion Syndrome
Bicuspid aortic valve, Atrial septal defect, Slender finger, Talipes equinovarus, Long fingers, L... OMIM:613355
Rhizomelic Chondrodysplasia Punctata, Type 5
Metaphyseal irregularity, Coxa vara, Metaphyseal cupping, Talipes equinovarus, Thoracic scoliosis... OMIM:616716
Nevus Comedonicus Syndrome
Preaxial polydactyly, Scoliosis, Spina bifida occulta, Abnormal foot morphology, Abnormal vertebr... ORPHA:64754
Chromosome 19Q13.11 Deletion Syndrome, Proximal
Nephrolithiasis, Clinodactyly of the 5th finger, Talipes equinovarus, Hydroureter, Hip dysplasia,... OMIM:617219
Schneckenbecken Dysplasia
Metaphyseal irregularity, Advanced ossification of carpal bones, Cleft palate, Bilateral talipes ... OMIM:269250
Atelosteogenesis Type Ii
Broad phalanx, Cleft palate, Short neck, Micromelia, Rhizomelic arm shortening, Upper limb underg... ORPHA:56304
Crisponi/Cold-Induced Sweating Syndrome 1
High palate, Narrow mouth, Kyphoscoliosis, Talipes equinovarus, Adducted thumb, Short neck, Long ... OMIM:272430
Charcot-Marie-Tooth Disease Type 4A
Hand muscle weakness, Joint contracture of the hand, Bilateral talipes equinovarus, Limited inter... ORPHA:99948
Spastic Paraplegia 45, Autosomal Recessive
Talipes equinovarus OMIM:613162
Moebius Syndrome-Axonal Neuropathy-Hypogonadotropic Hypogonadism Syndrome
Abnormality of finger, Movement abnormality of the tongue, Bilateral talipes equinovarus ORPHA:2560
Ulnar/Fibular Ray Defect And Brachydactyly
Atrial septal defect, Bilateral talipes equinovarus, Brachydactyly, Postaxial oligodactyly, Lower... OMIM:608571
Cholestasis, Benign Recurrent Intrahepatic, 1
Conjugated hyperbilirubinemia, Increased serum bile acid concentration OMIM:243300
Epiphyseal Dysplasia-Hearing Loss-Dysmorphism Syndrome
Wide mouth, Long philtrum, Scoliosis, Abnormality of the wrist, Abnormal thumb morphology, Deep p... ORPHA:1825
Sillence Syndrome
Platyspondyly, Abnormal vertebral morphology, Large tarsal bones, Back pain, Chess-pawn distal ph... ORPHA:3168
Thrombocytopenia-Absent Radius Syndrome
Aplasia/Hypoplasia of the ulna, Abnormal cardiac septum morphology, Cleft palate, Horseshoe kidne... ORPHA:3320
17Q12 Microduplication Syndrome
Atrial septal defect, Cleft palate, Tracheoesophageal fistula, Abnormal vertebral morphology, Fin... ORPHA:261272
Congenital Disorder Of Glycosylation, Type Iw, Autosomal Recessive
Abnormal glycosylation OMIM:615596
Cutis Laxa, Autosomal Recessive, Type Iie
High palate, Clinodactyly of the 5th finger, Lumbar hyperlordosis, Deep palmar crease, Long philt... OMIM:619451
Hypertelorism, Microtia, Facial Clefting Syndrome
Cleft upper lip, Narrow mouth, 2-3 toe syndactyly, Cleft palate, Small thenar eminence, Abnormali... OMIM:239800
Hypomelanosis Of Ito
Kyphosis, Irregularly spaced teeth, Syndactyly, Scoliosis, Radial deviation of finger, Clinodacty... OMIM:300337
Bardet-Biedl Syndrome 4
Abnormality of the dentition, Syndactyly, Brachydactyly, Polydactyly, Renal cyst OMIM:615982
Megaloblastic Anemia, Folate-Responsive
Increased circulating ferritin concentration, Hyperbilirubinemia, Hyperhomocystinemia OMIM:601775
Limb-Mammary Syndrome
Joint contracture of the hand, Hypodontia, Cleft palate, Split foot, Syndactyly, Bifid uvula, Cam... OMIM:603543
Autosomal Recessive Centronuclear Myopathy
High palate, Narrow mouth, Talipes equinovarus, Left ventricular hypertrophy, Pes cavus, Bifid uv... ORPHA:169186
Dyssegmental Dysplasia, Silverman-Handmaker Type
Narrow mouth, Talipes equinovarus, Anisospondyly, Bowing of the long bones, Short long bone OMIM:224410
Mesomelic Dysplasia, Nievergelt Type
Clinodactyly of the 5th finger, Abnormal morphology of ulna, Finger syndactyly, Camptodactyly of ... ORPHA:2633
Temtamy Preaxial Brachydactyly Syndrome
Carpal synostosis, Cleft palate, Diastema, Microdontia, Brachydactyly, Radioulnar synostosis, Syn... OMIM:605282
Obesity, Early-Onset, With Adrenal Insufficiency And Red Hair
Hyperbilirubinemia OMIM:609734
Ehlers-Danlos Syndrome, Classic Type, 2
Congenital hip dislocation, Talipes equinovarus OMIM:130010
Juberg-Hayward Syndrome
Abnormality of finger, Hypoplasia of the radius, Hypospadias, Scoliosis, Oral cleft, Radioulnar s... ORPHA:2319
Orofaciodigital Syndrome Xi
Kyphoscoliosis, Hypoplasia of the odontoid process, Cleft palate, Postaxial polydactyly OMIM:612913
Orofaciodigital Syndrome Viii
High palate, Cleft palate, Short tibia, Syndactyly, Polydactyly, Median cleft lip OMIM:300484
Rosselli-Gulienetti Syndrome
Cleft upper lip, Anodontia, Hypodontia, Cleft palate, Cutaneous syndactyly of toes, Microdontia, ... OMIM:225000
Fructose And Galactose Intolerance
Galactose intolerance, Fructose intolerance OMIM:229500
Bile Acid Synthesis Defect, Congenital, 5
Increased total iron binding capacity, Hyperbilirubinemia, Increased serum bile acid concentration OMIM:616278
Keratoconus Posticus Circumscriptus
Cleft upper lip, Clinodactyly of the 5th finger, Cleft palate, Abnormal vertebral segmentation an... OMIM:244600
Marden-Walker Syndrome
High palate, Kyphosis, Narrow mouth, Talipes equinovarus, High, narrow palate, Cleft palate, Micr... OMIM:248700
Congenital Heart Defects And Ectodermal Dysplasia
Syndactyly, Premature loss of primary teeth, Microdontia, Scoliosis, Widely spaced teeth, Broad t... OMIM:617364
Prune Belly Syndrome
Urogenital sinus anomaly, Anal atresia, Vertebral segmentation defect, Atrial septal defect, Inte... ORPHA:2970
Ritscher-Schinzel Syndrome 2
Short distal phalanx of finger, Overlapping toe, Atrial septal defect, Short philtrum, Syndactyly... OMIM:300963
Freeman-Sheldon Syndrome
Narrow mouth, Talipes equinovarus, Abnormality of the dentition, Camptodactyly of finger, Long ph... ORPHA:2053
Acrofacial Dysostosis Syndrome Of Rodriguez
High palate, Overlapping toe, Narrow mouth, Talipes equinovarus, Short tibia, Short philtrum, Sin... OMIM:201170
Mesomelic Dysplasia, Kantaputra Type
Vertebral segmentation defect, Clinodactyly of the 5th finger, Camptodactyly of finger, Abnormali... ORPHA:1836
Congenital Disorder Of Glycosylation, Type Id
High palate, Type I transferrin isoform profile, Talipes equinovarus, Joint contracture of the ha... OMIM:601110
Boomerang Dysplasia
Abnormality of femur morphology, Abnormal morphology of ulna, Abnormally ossified vertebrae, Apla... ORPHA:1263
Aase-Smith Syndrome I
Talipes equinovarus, Slender finger, Cleft palate, Ventricular septal defect, Open mouth OMIM:147800
Monosomy 5P
High palate, Small hand, Short neck, Scoliosis, Finger syndactyly ORPHA:281
Otopalatodigital Syndrome Type 1
Short distal phalanx of finger, Anodontia, Cleft palate, Abnormal vertebral segmentation and fusi... ORPHA:90650
Microcephaly, Facial Dysmorphism, Renal Agenesis, And Ambiguous Genitalia Syndrome
High palate, Overlapping toe, Atrial septal defect, Micropenis, Unilateral renal agenesis, Bilate... OMIM:618142
Microphthalmia With Limb Anomalies
High palate, Cleft palate, Macrodontia, Abnormality of the upper limb, Horseshoe kidney, Sandal g... ORPHA:1106
Brachydactyly-Syndactyly, Zhao Type
Short fifth metatarsal, Short middle phalanx of the 2nd finger, Symphalangism affecting the phala... ORPHA:93409
Isolated Polycystic Liver Disease
Increased total bilirubin ORPHA:2924
Spondyloepiphyseal Dysplasia With Congenital Joint Dislocations
High palate, Tricuspid stenosis, Short neck, Delayed eruption of teeth, Microdontia, Hypoplasia o... OMIM:143095
Holt-Oram Syndrome
Kyphosis, Anomalous pulmonary venous return, Atrial septal defect, Hypoplastic left heart, Absent... ORPHA:392
Atelosteogenesis Type I
Malrotation of colon, Talipes equinovarus, Cleft palate, Short femur, Abnormal ossification invol... ORPHA:1190
Acromesomelic Dysplasia 3
Carpal synostosis, Short toe, Talipes equinovarus, Bilateral talipes equinovarus, Short 1st metac... OMIM:609441
Ulnar Hypoplasia With Lobster-Claw Deformity Of Feet
Hypoplasia of the ulna, Short finger, Syndactyly, Split foot OMIM:314360
Contractures-Developmental Delay-Pierre Robin Syndrome
Overlapping toe, Abnormality of finger, Atrial septal defect, High, narrow palate, Cleft palate, ... ORPHA:436003
Mucopolysaccharidosis, Type Vii
Anterior beaking of lumbar vertebrae, Short neck, Heparan sulfate excretion in urine, Platyspondy... OMIM:253220
Kdm5C-Related Syndromic X-Linked Intellectual Disability
High palate, Talipes equinovarus, Camptodactyly of finger, Tapered finger, Clinodactyly, Short palm ORPHA:85279
Femur-Fibula-Ulna Complex
Abnormality of femur morphology, Abnormal morphology of ulna, Split hand, Short humerus, Micromel... ORPHA:2019
Lethal Congenital Contracture Syndrome 10
High palate, Narrow palate, Talipes equinovarus, Thoracic scoliosis, Adducted thumb, Overlapping ... OMIM:617022
Tarp Syndrome
High palate, Short sternum, Talipes equinovarus, Cleft palate, Postaxial polydactyly, Glossoptosi... OMIM:311900
Hepatic Veno-Occlusive Disease
Increased total bilirubin ORPHA:890
Nescav Syndrome
Talipes equinovarus OMIM:614255
Nail-Patella Syndrome
Cleft palate, Hematuria, Glenoid fossa hypoplasia, Hypoplastic radial head, Biceps aplasia, Trice... OMIM:161200
Early-Onset Seizures-Distal Limb Anomalies-Facial Dysmorphism-Global Developmental Delay Syndrome
High palate, Overlapping toe, Atrial septal defect, Talipes equinovarus, Arachnodactyly, Hyperext... ORPHA:505237
Charcot-Marie-Tooth Disease, Axonal, Type 2S
Talipes equinovarus, Scoliosis OMIM:616155
Cervical Ribs, Sprengel Anomaly, Anal Atresia, And Urethral Obstruction
Anal atresia, Talipes equinovarus, Thoracolumbar scoliosis, Renal hypoplasia, Urethral obstructio... OMIM:601389
Kniest-Like Dysplasia, Lethal
Metaphyseal irregularity, Narrow mouth, Hypoplastic vertebral bodies, Atrial septal defect, Talip... OMIM:245190
Arthrogryposis Multiplex Congenita 3, Myogenic Type
Kyphosis, Kyphoscoliosis, Flexion contracture of finger, Talipes equinovarus, Adducted thumb, Bil... OMIM:618484
Weyers Ulnar Ray/Oligodactyly Syndrome
Cleft upper lip, High palate, Aplasia/Hypoplasia of the ulna, Cleft palate, Hand oligodactyly, Hy... OMIM:602418
Cirrhosis-Dystonia-Polycythemia-Hypermanganesemia Syndrome
Low levels of vitamin E, Abnormality of amino acid metabolism, Hypertrophic cardiomyopathy, Esoph... ORPHA:309854
Perrault Syndrome 1
High palate, Pes cavus, Talipes equinovarus, Scoliosis OMIM:233400
Robin Sequence With Cleft Mandible And Limb Anomalies
High palate, Cleft palate, Hypoplasia of the radius, Hip subluxation, Clinodactyly of the 5th fin... OMIM:268305
Acrorenal Syndrome
Abnormal morphology of ulna, Cleft palate, Abnormality of tibia morphology, Aplasia/Hypoplasia of... ORPHA:971
Brachydactyly, Type B2
Short distal phalanx of finger, Carpal synostosis, Aplasia/Hypoplasia of the middle phalanges of ... OMIM:611377
Mohr Syndrome
High palate, Cleft palate, Lobulated tongue, Tongue nodules, Partial duplication of the phalanges... OMIM:252100
Teebi-Shaltout Syndrome
Wide mouth, Narrow mouth, Ulnar deviation of the hand, Aortic valve stenosis, High, narrow palate... OMIM:272950
X-Linked Intellectual Disability-Dysmorphism-Cerebral Atrophy Syndrome
Bilateral talipes equinovarus, Finger clinodactyly, Patellar subluxation, Abnormal number of inci... ORPHA:2958
Proximal Symphalangism
Clinodactyly of the 5th finger, Elbow ankylosis, Camptodactyly of finger, Brachydactyly, Synostos... ORPHA:3250
Nail-Patella Syndrome
Talipes calcaneovarus, Abnormality of femur morphology, Proximal finger joint hyperextensibility,... ORPHA:2614
Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Imaging Abnormalities
Bilateral talipes equinovarus OMIM:616486
Oculofaciocardiodental Syndrome
Abnormal cardiac septum morphology, Cleft palate, Abnormality of the dentition, Delayed eruption ... ORPHA:2712
Fibuloulnar Aplasia Or Hypoplasia With Renal Abnormalities
Syndactyly, Ventricular septal defect, Hypoplasia of the ulna, Renal cyst, Renal hypoplasia, Meso... OMIM:228940
Charcot-Marie-Tooth Disease Type 4G
Distal upper limb muscle weakness, Talipes equinovarus, Abnormality of the hand, Pes cavus, Scoli... ORPHA:99953
Inverted Duplicated Chromosome 15 Syndrome
High palate, Clinodactyly of the 5th finger, Talipes equinovarus, 2-3 toe syndactyly, Unilateral ... ORPHA:3306
Crane-Heise Syndrome
Short distal phalanx of finger, Talipes equinovarus, Hypoplasia of penis, Cleft palate, Abnormall... ORPHA:1512
Chromosome 1Q41-Q42 Deletion Syndrome
High palate, Cleft upper lip, Vertebral segmentation defect, Talipes equinovarus, Cleft palate, 3... OMIM:612530
Metatropic Dysplasia
Kyphosis, Halberd-shaped pelvis, Clinodactyly of the 5th finger, Cleft palate, Camptodactyly of f... ORPHA:2635
Kbg Syndrome
Cleft palate, Vertebral fusion, Oligodontia, Cutaneous syndactyly, Macrodontia, Long philtrum, Fi... ORPHA:2332
Neurodevelopmental Disorder With Severe Motor Impairment, Absent Language, Cerebral Hypomyelination, And Brain Atrophy
Long philtrum, Tented upper lip vermilion, Talipes equinovarus OMIM:619972
Diaphragmatic Defect-Limb Deficiency-Skull Defect Syndrome
Aplasia/Hypoplasia of the ulna, Abnormality of femur morphology, Clinodactyly of the 5th finger, ... ORPHA:2141
Spondylocarpotarsal Synostosis Syndrome
Cleft palate, Short neck, Block vertebrae, Vertebral segmentation defect, Epiphyseal dysplasia, C... OMIM:272460
Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly
High palate, Cleft palate, Short uvula, Micromelia, Microdontia, Bowing of the long bones, Short ... OMIM:614091
Intellectual Developmental Disorder, Autosomal Recessive 61
High palate, Talipes equinovarus, Prominent fingertip pads, Pes cavus, Scoliosis, Tapered finger,... OMIM:617773
Scapuloperoneal Spinal Muscular Atrophy
Scapular muscle atrophy, Peroneal muscle weakness, Kyphosis, Talipes equinovarus, Small hand, Sco... OMIM:181405
Hypermethioninemia Due To Adenosine Kinase Deficiency
Hypermethioninemia, Hyperbilirubinemia OMIM:614300
Thumb Deformity-Alopecia-Pigmentation Anomaly Syndrome
Everted lower lip vermilion, Camptodactyly of finger, Short thumb, Triphalangeal thumb, Palmoplan... ORPHA:2251
Caudal Regression Syndrome
Anal atresia, Hypoplastic vertebral bodies, Talipes equinovarus, Abnormal iliac wing morphology, ... ORPHA:3027
Dysraphism-Cleft Lip/Palate-Limb Reduction Defects Syndrome
Ectopic anus, Hypoplastic left heart, Cleft palate, Anencephaly, Ventricular septal defect, Aplas... ORPHA:2476
Arthrogryposis Multiplex Congenita 1, Neurogenic, With Myelin Defect
High palate, Ankle flexion contracture, Internally rotated shoulders, Talipes equinovarus, Campto... OMIM:617468
Myopathy, Centronuclear, 2
High palate, Kyphosis, Talipes equinovarus, Pes cavus, Scoliosis, Hyperlordosis, Scapular winging OMIM:255200
Ectrodactyly-Cleft Palate Syndrome
Split hand, Cleft palate OMIM:129830
Intellectual Developmental Disorder With Dysmorphic Facies And Ptosis
Wide mouth, Narrow mouth, Talipes equinovarus, Short philtrum, Long philtrum, Camptodactyly, Down... OMIM:617333
Isolated Osteopoikilosis
Abnormality of femur morphology, Cleft palate, Abnormally ossified vertebrae, Abnormality of limb... ORPHA:166119
Acrofacial Dysostosis 1, Nager Type
Wide mouth, Cleft palate, Absent thumb, Hypoplasia of the radius, Radioulnar synostosis, Ventricu... OMIM:154400
Constricting Bands, Congenital
Cleft upper lip, Talipes equinovarus, Cleft palate, Syndactyly, Scoliosis, Bladder exstrophy, Ect... OMIM:217100
Verloove Vanhorick-Brubakk Syndrome
Abnormality of femur morphology, Cleft palate, Abnormal form of the vertebral bodies, Limb underg... ORPHA:3429
Split-Hand With Obstructive Uropathy, Spina Bifida, And Diaphragmatic Defects
Myelomeningocele, Split foot, Spina bifida occulta, Thoracolumbar scoliosis, Hydronephrosis, Spli... OMIM:183802
Impaired Intellectual Development And Distinctive Facial Features With Or Without Cardiac Defects
Wide mouth, Talipes equinovarus, Macroglossia, Everted lower lip vermilion, Short neck, Patent fo... OMIM:616789
Poland Syndrome
Unilateral oligodactyly, Hemivertebrae, Unilateral brachydactyly, Syndactyly, Dextrocardia, Hypop... OMIM:173800
Atelosteogenesis, Type I
Aplasia/Hypoplasia of the ulna, Cleft palate, Short neck, Rhizomelia, Multinucleated giant chondr... OMIM:108720
Bile Acid Conjugation Defect 1
Conjugated hyperbilirubinemia OMIM:619232
Cystathioninuria
Nephrolithiasis, Talipes equinovarus, Cystathioninuria ORPHA:212
Autosomal Recessive Charcot-Marie-Tooth Disease With Hoarseness
Peroneal muscle weakness, Hand muscle weakness, Intrinsic hand muscle atrophy, Distal upper limb ... ORPHA:101097
Polydactyly, Postaxial, With Dental And Vertebral Anomalies
Spinal canal stenosis, Dens in dente, Kyphoscoliosis, Clinodactyly of the 5th finger, 2-3 toe syn... OMIM:263540
Satb2-Associated Syndrome Due To A Chromosomal Rearrangement
High palate, Slender finger, Cleft palate, Abnormality of the dentition, Short philtrum, Short ne... ORPHA:251028
Cholestasis-Lymphedema Syndrome
Hyperlipidemia, Conjugated hyperbilirubinemia OMIM:214900
Hennekam Lymphangiectasia-Lymphedema Syndrome 1
Delayed eruption of teeth, Ventricular septal defect, Rectal prolapse, Horseshoe kidney, Pericard... OMIM:235510
Vacterl Association, X-Linked, With Or Without Hydrocephalus
Anal atresia, Urethral atresia, Atrioventricular canal defect, Tracheoesophageal fistula, Short h... OMIM:314390
Ellis-Van Creveld Syndrome
Cleft upper lip, Acetabular spurs, Abnormality of the alveolar ridges, Atrial septal defect, Hypo... OMIM:225500
Aural Atresia, Multiple Congenital Anomalies, And Mental Retardation
Ventricular septal defect, Talipes equinovarus OMIM:209770
Ritscher-Schinzel Syndrome 1
Double outlet right ventricle, Anal atresia, Atrial septal defect, Aortic valve stenosis, Cleft p... OMIM:220210
Larsen Syndrome
Cleft palate, Talipes equinovalgus, Ventricular septal defect, Elbow dislocation, Cleft upper lip... OMIM:150250
Desbuquois Dysplasia 2
Cleft palate, Cutaneous syndactyly, Monkey wrench femoral neck, Short neck, Platyspondyly, Single... OMIM:615777
Ectodermal Dysplasia-Syndactyly Syndrome 2
Syndactyly, Enamel hypoplasia, Palmoplantar keratoderma, Thin upper lip vermilion, Cardiomegaly OMIM:613576
Temtamy Preaxial Brachydactyly Syndrome
Proximal symphalangism of hands, Proximal radio-ulnar synostosis, Abnormality of the dentition, A... ORPHA:363417
Intellectual Developmental Disorder With Dysmorphic Facies, Seizures, And Distal Limb Anomalies
High palate, Overlapping toe, Atrial septal defect, Talipes equinovarus, Down-sloping shoulders, ... OMIM:617452
Greig Cephalopolysyndactyly Syndrome
Preaxial hand polydactyly, Broad hallux phalanx, Postaxial hand polydactyly, Broad thumb, Postaxi... ORPHA:380
Adenosine Deaminase, Elevated, Hemolytic Anemia Due To
Hyperbilirubinemia OMIM:301083
Spastic Paraplegia 55, Autosomal Recessive
Talipes equinovarus OMIM:615035
Wieacker-Wolff Syndrome
High palate, U-Shaped upper lip vermilion, Kyphosis, Talipes equinovarus, Palmar hyperkeratosis, ... OMIM:314580
Acromelic Frontonasal Dysostosis
Cleft upper lip, U-Shaped upper lip vermilion, Talipes equinovarus, Cleft palate, Preaxial polyda... OMIM:603671
Galloway-Mowat Syndrome 7
High palate, Kyphoscoliosis, Nephrotic syndrome, Cleft palate, Diffuse mesangial sclerosis, Arach... OMIM:618348
Intellectual Disability-Coarse Face-Macrocephaly-Cerebellar Hypotrophy Syndrome
High palate, Dental crowding, Kyphoscoliosis, Atrial septal defect, Oligosacchariduria, Macroglos... ORPHA:397709
Atelosteogenesis Type Iii
High palate, Abnormality of the humerus, Patellar dislocation, Hand clenching, Elbow dislocation,... ORPHA:56305
Intellectual Developmental Disorder With Cardiac Defects And Dysmorphic Facies
Double outlet right ventricle, Overlapping toe, Atrial septal defect, Hypospadias, Cutaneous synd... OMIM:618316
Ischiocoxopodopatellar Syndrome With Or Without Pulmonary Arterial Hypertension
High palate, Coxa vara, Flat capital femoral epiphysis, Cleft palate, Short femur, Wide capital f... OMIM:147891
Rh-Null, Regulator Type
Unconjugated hyperbilirubinemia OMIM:268150
Acrofacial Dysostosis, Rodríguez Type
Aplasia/Hypoplasia of the ulna, Talipes equinovarus, Hand oligodactyly, Abnormal form of the vert... ORPHA:1788
Laing Early-Onset Distal Myopathy
High palate, Abnormality of the calf musculature, Toe extensor amyotrophy, Scoliosis, Dilated car... ORPHA:59135
Orofaciodigital Syndrome Vi
High palate, Cleft upper lip, Accessory oral frenulum, Mesoaxial hand polydactyly, Cleft palate, ... OMIM:277170
Carey-Fineman-Ziter Syndrome
High palate, Talipes equinovarus, Aplasia/Hypoplasia of the tongue, Cleft palate, Glossoptosis, T... ORPHA:1358
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency
Increased circulating ferritin concentration, Elevated transferrin saturation, Unconjugated hyper... ORPHA:766
Dyssegmental Dysplasia, Silverman-Handmaker Type
Bowing of the legs, Narrow mouth, Talipes equinovarus, Cleft palate, Hypoplastic ilia, Short neck... ORPHA:1865
Eem Syndrome
Ectrodactyly, Finger syndactyly, Microdontia, Carious teeth, Widely spaced teeth, Abnormality of ... ORPHA:1897
Elliptocytosis 2
Neonatal hyperbilirubinemia OMIM:130600
Nievergelt Syndrome
Talipes equinovarus, Radioulnar synostosis, Metatarsal synostosis, Mesomelia, Genu valgum, Tarsal... OMIM:163400
Mitochondrial Dna Depletion Syndrome 16 (Hepatic Type)
Increased total bilirubin OMIM:618528
Chromosome 13Q33-Q34 Deletion Syndrome
High palate, Distally placed thumb, Short philtrum, Cutaneous syndactyly, Anencephaly, Delayed er... OMIM:619148
Saul-Wilson Syndrome
Short distal phalanx of finger, Cone-shaped epiphyses of the phalanges of the hand, Talipes equin... OMIM:618150
Ring Chromosome 21 Syndrome
Fused thoracic vertebrae, Small hand, Syndactyly, Scoliosis, Narrow palm, Clinodactyly, Thoracic ... ORPHA:1445
Filippi Syndrome
Hypodontia, Thin vermilion border, Short philtrum, Cutaneous syndactyly, Finger clinodactyly, Mic... OMIM:272440
Teebi Hypertelorism Syndrome 2
High palate, Clinodactyly of the 5th finger, Cleft palate, Everted lower lip vermilion, Hypospadi... OMIM:619736
Cornelia De Lange Syndrome 4 With Or Without Midline Brain Defects
Coxa vara, Clinodactyly of the 5th finger, Velopharyngeal insufficiency, 2-3 toe syndactyly, Clef... OMIM:614701
Eye Defects-Arachnodactyly-Cardiopathy Syndrome
Clinodactyly of the 5th finger, Cleft palate, Abnormal hip bone morphology, Arachnodactyly, Radio... ORPHA:2725
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 1, With Or Without Fractures
High palate, Cleft palate, Delayed proximal femoral epiphyseal ossification, Short neck, Platyspo... OMIM:271640
Thiamine Metabolism Dysfunction Syndrome 4 (Bilateral Striatal Degeneration And Progressive Polyneuropathy Type)
Talipes equinovarus OMIM:613710
Martsolf Syndrome 1
High palate, Finger joint hypermobility, Short philtrum, Broad fingertip, Talipes equinovarus, To... OMIM:212720
Arthrogryposis, Distal, Type 2A
High palate, Flexion contracture of finger, Pursed lips, Short neck, Rocker bottom foot, Talipes ... OMIM:193700
Ehlers-Danlos Syndrome, Arthrochalasia Type, 2
Bladder diverticulum, Kyphosis, Talipes equinovarus, Hyperextensibility of the finger joints, Sco... OMIM:617821
Lipoyltransferase 1 Deficiency
Increased total bilirubin OMIM:616299
Mosaic Trisomy 9
High palate, Cleft palate, Hemivertebrae, Short neck, Micromelia, Finger clinodactyly, Ventricula... ORPHA:99776
Chromosome 18Q Deletion Syndrome
Cleft palate, Short philtrum, Short neck, Ventricular septal defect, Umbilical hernia, Rocker bot... OMIM:601808
Central Core Disease
Kyphoscoliosis, Talipes equinovarus, Congenital hip dislocation, Mitral valve prolapse, Pes planus ORPHA:597
Arthrogryposis, Distal, Type 5
High palate, Decreased palmar creases, Bilateral talipes equinovarus, Arachnodactyly, Limited wri... OMIM:108145
Pfeiffer Syndrome
High palate, Clinodactyly of the 5th finger, Short philtrum, Short neck, Synostosis of carpal bon... ORPHA:710
Short Stature-Craniofacial Anomalies-Genital Hypoplasia Syndrome
Ectopic anus, Short distal phalanx of finger, Cleft palate, Arachnodactyly, Abnormality of the de... ORPHA:2994
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia
High palate, Hypoplasia of the radius, Short neck, Hypoplasia of the ulna, Horseshoe kidney, U-Sh... OMIM:609945
Lethal Short-Limb Skeletal Dysplasia, Al Gazali Type
Bilateral talipes equinovarus, Shortening of all metacarpals, Platyspondyly, Limb undergrowth, Me... OMIM:601356
Diaphanospondylodysostosis
Myelomeningocele, Cleft palate, Abnormal vertebral segmentation and fusion, Short neck, Multiple ... ORPHA:66637
Wieacker-Wolff Syndrome, Female-Restricted
U-Shaped upper lip vermilion, Kyphosis, Talipes equinovarus, Cleft palate, Short neck, Long philt... OMIM:301041
Larsen-Like Syndrome
Dental malocclusion, Kyphoscoliosis, Clinodactyly of the 5th finger, Talipes equinovarus, Cleft p... OMIM:608545
Prune Belly Syndrome
Anal atresia, Talipes equinovarus, Hydroureter, Xerostomia, Congenital hip dislocation, Hydroneph... OMIM:100100
Charcot-Marie-Tooth Disease, Type 4C
Talipes equinovarus, Pes cavus, Scoliosis, Hammertoe, Tongue atrophy, Tongue fasciculations OMIM:601596
Achondrogenesis Type 1B
Talipes equinovarus, Short neck, Long philtrum, Micromelia, Short foot, Umbilical hernia ORPHA:93298
Czeizel-Losonci Syndrome
High palate, Ectrodactyly, Myelomeningocele, Congenital megaureter, Split foot, Tracheoesophageal... ORPHA:2437
Otospondylomegaepiphyseal Dysplasia
Cleft palate, Abnormally ossified vertebrae, Short neck, Platyspondyly, Flared femoral metaphysis... ORPHA:1427
Charcot-Marie-Tooth Disease, Type 4B3
Pes planus, Syndactyly, Scoliosis, Urinary incontinence OMIM:615284
Spherocytosis, Type 4
Hyperbilirubinemia OMIM:612653
Split-Hand/Foot Malformation 3
High palate, Narrow mouth, Cleft palate, Camptodactyly, Renal hypoplasia, Split hand OMIM:246560
Pmp22-Rai1 Contiguous Gene Duplication Syndrome
Double outlet right ventricle, Bicuspid aortic valve, 2-3 toe syndactyly, Atrial septal defect, T... ORPHA:477817
Cantú Syndrome
Short distal phalanx of finger, Wide mouth, Deep plantar creases, Finger syndactyly, Broad hallux... ORPHA:1517
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency
Hyperlysinemia, Hyperbilirubinemia, Increased LDL cholesterol concentration, Abnormal circulating... ORPHA:247598
Xeroderma Pigmentosum-Cockayne Syndrome Complex
Abnormality of amino acid metabolism ORPHA:220295
Acrodysplasia Scoliosis
Vertebral segmentation defect, Brachydactyly, Spina bifida occulta, Scoliosis ORPHA:2956
Congenital Contractures Of The Limbs And Face, Hypotonia, And Developmental Delay
Talipes equinovarus, Pursed lips, Adducted thumb, Short neck, Long philtrum, Scoliosis, Camptodac... OMIM:616266
6P22 Microdeletion Syndrome
Short neck, Clinodactyly, Hydronephrosis, Abnormal palate morphology, Finger syndactyly ORPHA:251046
Arthrogryposis, Distal, With Impaired Proprioception And Touch
High palate, Talipes equinovarus, Arachnodactyly, Scoliosis, Camptodactyly, Pes planus, Sandal ga... OMIM:617146
Myopathy, Myofibrillar, 7
Lumbar hyperlordosis, Talipes equinovarus, Spinal rigidity, Pes cavus, Scoliosis, Thoracic kyphos... OMIM:617114
Nephrotic Syndrome, Type 11
High palate, Nephrotic syndrome, Cleft palate, Diffuse mesangial sclerosis, Arachnodactyly, Parti... OMIM:616730
Multiple Pterygium Syndrome, Escobar Variant
High palate, Triangular mouth, Cleft palate, Down-sloping shoulders, Short neck, Ulnar deviation ... OMIM:265000
Clubfoot, Congenital, With Or Without Deficiency Of Long Bones And/Or Mirror-Image Polydactyly
Median cleft palate, Talipes equinovarus, Bilateral talipes equinovarus, Mirror image foot polyda... OMIM:119800
Craniofrontonasal Dysplasia
High palate, Clinodactyly of the 5th finger, Abnormality of the dentition, Hypospadias, Down-slop... ORPHA:1520
Neurodevelopmental Disorder With Microcephaly, Seizures, And Neonatal Cholestasis
Irritability, Hyperbilirubinemia, Increased serum bile acid concentration OMIM:619685
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 2
Vertebral segmentation defect, Chronic kidney disease, Hypoplastic left heart, Unilateral renal a... OMIM:617661
Cleft Palate, Cardiac Defects, And Mental Retardation
Cleft upper lip, 2-3 toe syndactyly, Atrial septal defect, Secundum atrial septal defect, Cleft p... OMIM:600987
Isolated Klippel-Feil Syndrome
Ectopic anus, Anal atresia, Cervical C2/C3 vertebral fusion, Cleft palate, Abnormal vertebral seg... ORPHA:2345
Spastic Paraplegia 86, Autosomal Recessive
Talipes equinovalgus, Scoliosis, Bilateral talipes equinovarus OMIM:619735
Otopalatodigital Syndrome, Type I
Cleft palate, Short 3rd metacarpal, Broad hallux, Sandal gap, Broad distal phalanx of the thumb, ... OMIM:311300
Renal-Hepatic-Pancreatic Dysplasia 2
Aortic valve stenosis, Talipes equinovarus, Pulmonic stenosis, Femoral bowing, Cystic renal dyspl... OMIM:615415
Van Den Ende-Gupta Syndrome
High palate, Cleft palate, Femoral bowing, Narrow foot, Tapered finger, Glenoid fossa hypoplasia,... OMIM:600920
3C Syndrome
Abnormal mitral valve morphology, Cleft palate, Atrioventricular canal defect, Hemivertebrae, Sho... ORPHA:7
Intellectual Developmental Disorder, X-Linked, Syndromic, Hackmann-Di Donato Type
Atrial septal defect, Talipes equinovarus, Arachnodactyly, Short philtrum, Scoliosis, Camptodacty... OMIM:301039
Dyssegmental Dysplasia With Glaucoma
Delayed epiphyseal ossification, Cleft palate, Flared metaphysis, Platyspondyly, Micromelia, Elbo... OMIM:601561
Autosomal Recessive Spondylocostal Dysostosis
Vertebral segmentation defect, Kyphosis, Anomalous pulmonary venous return, Cleft palate, Hypospa... ORPHA:2311
Thrombocytopenia-Absent Radius Syndrome
Cleft palate, Atrioventricular canal defect, Hypoplasia of the radius, Femoral bowing, Absent thu... OMIM:274000
Cranioectodermal Dysplasia
Short distal phalanx of finger, Taurodontia, Clinodactyly of the 5th finger, Hypodontia, Finger s... ORPHA:1515
Cleft-Limb-Heart Malformation Syndrome
Syndactyly, Truncus arteriosus OMIM:215850
Cenani-Lenz Syndrome
Hypodontia, High, narrow palate, Finger syndactyly, Hypoplasia of the radius, Short philtrum, Cro... ORPHA:3258
Congenital Disorder Of Glycosylation, Type Ig
Butterfly vertebrae, Talipes equinovarus, Micropenis, Hypoplasia of the radius, Hypospadias, Shor... OMIM:607143
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects
Cleft palate, Talipes equinovalgus, Metacarpophalangeal joint hyperextensibility, Short neck, Pla... OMIM:245600
Slc35A2-Cdg
Talipes equinovarus, Transient nephrotic syndrome, Abnormality of the hand, Short tibia, Aplasia/... ORPHA:356961
Microcephaly-Micromelia Syndrome
Forearm undergrowth, Narrow mouth, Talipes equinovarus, Cleft palate, Abnormality of the hand, Sh... OMIM:251230
Neurodevelopmental Disorder With Microcephaly, Hypotonia, And Variable Brain Anomalies
Narrow palate, Talipes equinovarus, Scoliosis OMIM:617481
Coloboma Of Macula And Skeletal Anomalies
Cleft palate, Contracture of the distal interphalangeal joint of the 5th finger, Genu valgum, Hal... OMIM:216800
Giant Axonal Neuropathy
Talipes equinovarus, Pes cavus, Scoliosis, Abnormal hand morphology, Genu valgum, Abnormality of ... ORPHA:643
Summitt Syndrome
Syndactyly OMIM:272350
Blepharophimosis-Impaired Intellectual Development Syndrome
Short distal phalanx of finger, Dental malocclusion, Wide mouth, Clinodactyly of the 5th finger, ... OMIM:619293
Midline Malformations, Multiple, With Limb Abnormalities And Hypopituitarism
Cleft upper lip, Joint contracture of the hand, Cleft palate, Overlapping fingers, Micromelia, Ca... OMIM:601016
Greig Cephalopolysyndactyly Syndrome
Joint contracture of the hand, Hypospadias, Broad hallux phalanx, Camptodactyly of toe, 1-3 toe s... OMIM:175700
Aarskog-Scott Syndrome
Cleft palate, Short neck, Single transverse palmar crease, Cleft upper lip, Scoliosis, Curved lin... OMIM:305400
Joubert Syndrome 24
Postaxial hand polydactyly, Talipes equinovarus OMIM:616654
Dystonia, Dopa-Responsive
Pes cavus, Talipes equinovarus, Scoliosis OMIM:128230
Frontometaphyseal Dysplasia 1
High palate, Cleft palate, Increased density of long bone diaphyses, Delayed eruption of teeth, L... OMIM:305620
Cardiospondylocarpofacial Syndrome
High, narrow palate, Tooth malposition, Failure of eruption of permanent teeth, Brachydactyly, Sy... ORPHA:3238
Meckel Syndrome, Type 10
Ulnar deviation of the hand, Cleft palate, Micropenis, Postaxial polydactyly, Hypospadias, Anence... OMIM:614175
Intellectual Developmental Disorder, X-Linked, Syndromic, Snyder-Robinson Type
Long hallux, Kyphoscoliosis, Talipes equinovarus, High, narrow palate, Cleft palate, Hyperextensi... OMIM:309583
White Forelock With Malformations
Clinodactyly of the 5th finger, Atrial septal defect, Spina bifida occulta, Deep philtrum, Abnorm... ORPHA:2475
Craniosynostosis, Philadelphia Type
Finger syndactyly ORPHA:1527
Short Rib-Polydactyly Syndrome
Nephronophthisis, Cleft palate, Cone-shaped epiphysis, Micromelia, Bowing of the long bones, Shor... ORPHA:1505
Spondyloepiphyseal Dysplasia-Craniosynostosis-Cleft Palate-Cataracts-Intellectual Disability Syndrome
High palate, Abnormal femoral neck/head morphology, Oligosacchariduria, Cleft palate, Slender fin... ORPHA:163649
Multiple Synostoses Syndrome 1
Short sternum, Clinodactyly of the 4th toe, Short philtrum, Symphalangism affecting the phalanges... OMIM:186500
Moebius Syndrome
High palate, Absent hand, Tooth agenesis, Talipes equinovarus, Aplasia/Hypoplasia of the tongue, ... ORPHA:570
Otospondylomegaepiphyseal Dysplasia, Autosomal Recessive
Epiphyseal dysplasia, Beaking of vertebral bodies, Lumbar hyperlordosis, Short metacarpal, Cleft ... OMIM:215150
Alpha-Thalassemia/Mental Retardation Syndrome, X-Linked
Hemivertebrae, Tapered finger, Ventricular septal defect, Umbilical hernia, Widely-spaced maxilla... OMIM:301040
Adams-Oliver Syndrome 6
Syndactyly, Brachydactyly, Ventricular septal defect, Renal hypoplasia, Esophageal varix, Foot ol... OMIM:616589
Acrocallosal Syndrome
High palate, Wide mouth, Abnormal cardiac septum morphology, Triangular mouth, Cleft palate, Shor... OMIM:200990
Fatco Syndrome
Absent hand, Abnormality of tibia morphology, Abnormality of fibula morphology, Tarsal synostosis... ORPHA:2492
Diaphanospondylodysostosis
Vertebral segmentation defect, Talipes equinovarus, Unossified sacrum, Cleft palate, Short neck, ... OMIM:608022
3P25.3 Microdeletion Syndrome
Cleft palate, Short philtrum, 2-3 finger syndactyly, Tapered finger, Pyloric stenosis, Ventricula... ORPHA:435638
Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked
Double outlet right ventricle, Reduced blood folate concentration, Butterfly vertebrae, Talipes e... OMIM:301056
Postaxial Polydactyly-Dental And Vertebral Anomalies Syndrome
Kyphosis, Clinodactyly of the 5th finger, Hypoplastic vertebral bodies, Hypodontia, Cleft palate,... ORPHA:2916
Short Stature, Auditory Canal Atresia, Mandibular Hypoplasia, And Skeletal Abnormalities
High palate, Dislocated radial head, Narrow mouth, Talipes equinovarus, Short humerus, Delayed os... OMIM:602471
Klippel-Feil Syndrome 2, Autosomal Recessive
Cleft upper lip, Cervical C2/C3 vertebral fusion, Cleft palate, Short neck, Scoliosis, Ventricula... OMIM:214300
Autosomal Recessive Robinow Syndrome
Wide mouth, Abnormality of the dentition, Short philtrum, Short neck, Ventricular septal defect, ... ORPHA:1507
Alkuraya-Kucinskas Syndrome
High palate, Overlapping toe, Talipes equinovarus, Micropenis, Adducted thumb, Cutaneous syndacty... OMIM:617822
Bruck Syndrome
Kyphosis, Talipes equinovarus, Platyspondyly, Scoliosis, Bowing of the long bones ORPHA:2771
Distal Limb Deficiencies-Micrognathia Syndrome
High palate, Narrow mouth, Abnormal morphology of ulna, Cleft palate, Split foot, Abnormality of ... ORPHA:1307
20Q13.33 Microdeletion Syndrome
Abnormal cardiac ventricle morphology, Atrial septal defect, Talipes equinovarus, Thin vermilion ... ORPHA:261311
Orofaciodigital Syndrome Iv
High palate, Accessory oral frenulum, Cleft palate, Postaxial polydactyly, Short tibia, Brachydac... OMIM:258860
Laurin-Sandrow Syndrome
Preaxial foot polydactyly, Absent tibia, Absent radius, Preaxial hand polydactyly, Limb duplicati... ORPHA:2378
Vacterl Association With Hydrocephalus
Anal atresia, Absent thumb, Radial club hand, Abnormality of the vertebral column, Renal hypoplas... OMIM:276950
Campomelic Dysplasia
High palate, Poorly ossified cervical vertebrae, Cleft palate, Femoral bowing, Short 1st metacarp... OMIM:114290
Microcephaly, Congenital Heart Disease, Unilateral Renal Agenesis, And Hyposegmented Lungs
Short distal phalanx of finger, Cleft palate, Unilateral renal agenesis, Ventricular septal defec... OMIM:601355
Noonan Syndrome 13
High palate, Wide mouth, U-Shaped upper lip vermilion, Overlapping toe, Atrial septal defect, Bil... OMIM:619087