Not currently registered for phenotyping at IMPC

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

Gene Summary

Name:
cytochrome P450, family 51
Synonyms:
N/A

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 Cyp51 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.

No human diseases associated to this gene by orthology or annotation.

The table below shows human diseases predicted to be associated to Cyp51 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Congenital Absence Of Upper Arm And Forearm With Hand Present
Abnormal hip bone morphology, Stillbirth, Atypical scarring of skin, Syndactyly, Polydactyly, Abn... ORPHA:294975
Atelosteogenesis, Type Iii
Prominent occiput, Hitchhiker thumb, Widened distal phalanges, Sandal gap, Rhizomelia, Tibial bow... OMIM:108721
Brachydactyly, Type C
Short 3rd finger, Triangular epiphysis of the middle phalanx of the 2nd finger, Pseudoepiphysis o... OMIM:113100
Pierre Robin Sequence With Facial And Digital Anomalies
Pierre-Robin sequence, Clinodactyly of the 5th finger, Tapered finger, Micrognathia, Short distal... OMIM:311895
Leri-Weill Dyschondrosteosis
Abnormal femoral neck morphology, Fibular hypoplasia, Short tibia, Short toe, Abnormality of the ... OMIM:127300
Ulnar Hemimelia
Carpal synostosis, Curved toe phalanx, Radial club hand, Short forearm, Aplasia of metacarpal bon... ORPHA:93320
Heart-Hand Syndrome Type 2
Brachydactyly, Abnormality of the ulna, Abnormal palate morphology, Short 5th metacarpal, Joint s... ORPHA:1350
Multiple Epiphyseal Dysplasia Type 4
Acromicria, Abnormality of forearm bone, Broad femoral neck, Short thumb, Delayed femoral head os... ORPHA:93307
Léri-Weill Dyschondrosteosis
Abnormal hip bone morphology, Genu varum, Abnormality of the ulna, Clinodactyly of the 5th finger... ORPHA:240
Langer Mesomelic Dysplasia
Bowing of the long bones, High palate, Abnormality of the ulna, Short femoral neck, Aplasia/Hypop... ORPHA:2632
Otospondylomegaepiphyseal Dysplasia
Abnormal pelvis bone morphology, Bifid uvula, Sandal gap, Flared femoral metaphysis, Micrognathia... ORPHA:1427
Distal Monosomy 17Q
Narrow mouth, Abnormal hip bone morphology, Abnormal thumb morphology, Upper limb asymmetry, Devi... ORPHA:1597
Catel-Manzke Syndrome
Joint stiffness, Metatarsus valgus, Abnormality of epiphysis morphology, Atrial septal defect, Cl... ORPHA:1388
Fibular Hemimelia
Fibular hypoplasia, Abnormal bone ossification, Limited knee flexion/extension, Abnormal morpholo... ORPHA:93323
Metaphyseal Dysplasia, Braun-Tinschert Type
Upper limb metaphyseal widening, Advanced pneumatization of cranial sinuses, Flared femoral metap... ORPHA:85188
Metaphyseal Acroscyphodysplasia
Genu varum, Cone-shaped metacarpal epiphyses, Micromelia, Short toe, Metaphyseal widening, Brachy... OMIM:250215
Mesomelic Dysplasia, Nievergelt Type
Genu varum, Abnormality of the ulna, Finger syndactyly, Camptodactyly of finger, Bilateral single... ORPHA:2633
Syndactyly Type 2
Symphalangism affecting the phalanges of the hand, Mesoaxial polydactyly, Short palm, Postaxial f... ORPHA:93403
Acromesomelic Dysplasia 2C
Acromesomelia, Hypoplasia of the ulna, Single transverse palmar crease, Shortening of all middle ... OMIM:201250
Microphthalmia With Limb Anomalies
Toe syndactyly, High palate, Single transverse palmar crease, Hand oligodactyly, Postaxial foot p... OMIM:206920
Acrocephalopolysyndactyly Type Iv
Clinodactyly, Syndactyly, Hand polydactyly, Oxycephaly, Ulnar deviation of the hand or of fingers... OMIM:201020
Skeletal Dysplasia, Mild, With Joint Laxity And Advanced Bone Age
Long philtrum, Pes planus, Micromelia, Ventricular septal defect, Scapular winging, Genu valgum, ... OMIM:618870
Mesomelia-Synostoses Syndrome
Long philtrum, Clinodactyly of the 5th finger, Micrognathia, High, narrow palate, Micromelia, Abn... ORPHA:2496
Shox-Related Short Stature
High palate, Ulnar radial head dislocation, Tibial bowing, Madelung deformity, Micrognathia, Lowe... ORPHA:314795
Mesomelic Limb Shortening And Bowing
Bowing of the legs, Bowing of the arm, Mesomelic leg shortening, Micrognathia, Mesomelic arm shor... OMIM:249710
Hypertelorism And Other Facial Dysmorphism, Brachydactyly, Genital Abnormalities, Mental Retardation, And Recurrent Inflammatory Episodes
Brachydactyly, Clinodactyly, Long philtrum, Thin upper lip vermilion, Short phalanx of finger, Up... OMIM:614684
Lethal Recessive Chondrodysplasia
Accelerated skeletal maturation, Flared elbow metaphyses, Micrognathia, Macroglossia, Micromelia,... ORPHA:1423
Robin Sequence-Oligodactyly Syndrome
Abnormality of the ulna, Hand oligodactyly, Clinodactyly of the 5th finger, Micrognathia, Glossop... ORPHA:3104
Beta-Mercaptolactate Cysteine Disulfiduria
High palate, Atrial septal defect, Sandal gap, Micromelia, Arachnodactyly, Frontal bossing, Umbil... ORPHA:1035
Polyneuropathy-Intellectual Disability-Acromicria-Premature Menopause Syndrome
Brachydactyly, Abnormality of pelvic girdle bone morphology, Arrhythmia, Micromelia, Furrowed ton... ORPHA:2928
Stuve-Wiedemann Syndrome 1
Talipes, Smooth tongue, Osteoporosis, Micrognathia, Short tibia, Bowing of the long bones, Single... OMIM:601559
Pallister-Hall-Like Syndrome
Short ribs, Micrognathia, Micromelia, Abnormal heart morphology, Microglossia, Postaxial hand pol... OMIM:241800
Atelosteogenesis, Type Ii
Abnormality of pelvic girdle bone morphology, Short greater sciatic notch, Sandal gap, Micrognath... OMIM:256050
Dyssegmental Dysplasia With Glaucoma
Delayed epiphyseal ossification, Dolichocephaly, Micromelia, Flared metaphysis, Wide anterior fon... OMIM:601561
Trigonobrachycephaly, Bulbous Bifid Nose, Micrognathia, And Abnormalities Of The Hands And Feet
Trigonocephaly, Micrognathia, Brachycephaly, Prominent metopic ridge, Broad phalanx, Broad metata... OMIM:275595
Synpolydactyly 1
Short middle phalanx of the 5th finger, 4-5 toe syndactyly, 6 metacarpals, Postaxial foot polydac... OMIM:186000
Metaphyseal Acroscyphodysplasia
Brachydactyly, Genu varum, Bowing of the long bones, Accelerated skeletal maturation, Cone-shaped... ORPHA:1240
Pseudoachondroplasia
Genu varum, Cone-shaped epiphysis, Generalized joint laxity, Abnormality of femoral epiphysis, Ir... ORPHA:750
Ophthalmomandibulomelic Dysplasia
Synostosis of carpal bones, Symphalangism affecting the phalanges of the hand, Temporomandibular ... ORPHA:2741
Boomerang Dysplasia
Abnormality of the ulna, Finger syndactyly, Aplasia/Hypoplasia of the fibula, Hydrops fetalis, Ab... ORPHA:1263
Pallister W Syndrome
Clinodactyly, Hypoplasia of the ulna, Broad uvula, Pes planus, Agenesis of central incisor, Metat... OMIM:311450
Diastrophic Dysplasia
Bowing of the long bones, Symphalangism affecting the phalanges of the hand, Joint stiffness, Inc... ORPHA:628
Otopalatodigital Syndrome, Type Ii
Short thumb, Micrognathia, Bulbous tips of toes, Cleft palate, Narrow mouth, Irregular metacarpal... OMIM:304120
Atelosteogenesis, Type I
Vertebral hypoplasia, Talipes, 11 pairs of ribs, Micrognathia, Cleft palate, Brachydactyly, Short... OMIM:108720
Short-Rib Thoracic Dysplasia 18 With Polydactyly
Brachydactyly, Hypoplastic ischia, Decreased calvarial ossification, Missing ribs, Single transve... OMIM:617866
Autosomal Dominant Myopia-Midfacial Retrusion-Sensorineural Hearing Loss-Rhizomelic Dysplasia Syndrome
Brachydactyly, Rhizomelia, Hypoplastic scapulae, Micrognathia, Midface retrusion, Micromelia, Fro... ORPHA:440354
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 1, With Or Without Fractures
Carpal synostosis, Long philtrum, Radial head subluxation, Pes planus, 11 pairs of ribs, Osteopor... OMIM:271640
Bone Dysplasia, Lethal Holmgren Type
Abnormal thumb morphology, Talipes, Abnormality of epiphysis morphology, Hernia, Rhizomelia, Atri... ORPHA:1842
Brachydactyly-Mesomelia-Intellectual Disability-Heart Defects Syndrome
Brachydactyly, Abnormal palate morphology, Abnormal mitral valve morphology, Hernia of the abdomi... ORPHA:1277
Midline Malformations, Multiple, With Limb Abnormalities And Hypopituitarism
Cleft upper lip, Overlapping fingers, Micromelia, Limb undergrowth, Camptodactyly, Cleft palate, ... OMIM:601016
Craniosynostosis, Herrmann-Opitz Type
Brachydactyly, Craniosynostosis, Finger syndactyly, Oligohydramnios, Micrognathia, Micromelia, Ma... ORPHA:2145
Chondrodysplasia, Blomstrand Type
Advanced ossification of carpal bones, Accelerated skeletal maturation, Advanced tarsal ossificat... OMIM:215045
Postaxial Oligodactyly, Tetramelic
Single transverse palmar crease, Postaxial foot polydactyly, Partial-complete absence of 5th phal... OMIM:176240
Atelosteogenesis Type Ii
Long philtrum, Sandal gap, Rhizomelic arm shortening, Micrognathia, Micromelia, Ulnar deviation o... ORPHA:56304
Chromosome 16P13.3 Duplication Syndrome
Atrial septal defect, Tapered finger, Short phalanx of finger, Midface retrusion, Pes cavus, Long... OMIM:613458
Metaphyseal Dysplasia Without Hypotrichosis
Genu varum, Metaphyseal irregularity, Abnormality of pelvic girdle bone morphology, Short long bo... OMIM:250460
Fibular Aplasia Or Hypoplasia, Femoral Bowing And Poly-, Syn-, And Oligodactyly
Clinodactyly, Aplasia/Hypoplasia of the 5th finger, Hypoplastic iliac wing, Aplasia/Hypoplasia of... OMIM:228930
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly
Brachydactyly, Prominent occiput, Long philtrum, Dolichocephaly, Short ribs, Hypoplasia of the ra... OMIM:617895
Spondyloepiphyseal Dysplasia With Congenital Joint Dislocations
Shoulder dislocation, Long philtrum, Pes planus, Widely spaced teeth, Microdontia, Mitral stenosi... OMIM:143095
Ophthalmomandibulomelic Dysplasia
Coxa valga, Temporomandibular joint ankylosis, Radioulnar dislocation, Fibular hypoplasia, Elbow ... OMIM:164900
Satb2-Associated Syndrome Due To A Chromosomal Rearrangement
Abnormal hip bone morphology, Long philtrum, Clinodactyly of the 5th finger, Microdontia, General... ORPHA:251028
Langer Mesomelic Dysplasia
Rudimentary fibula, Hypoplasia of the ulna, Short femoral neck, Hypoplasia of the radius, Madelun... OMIM:249700
Acrocapitofemoral Dysplasia
Small finger, Genu varum, Delayed ossification of carpal bones, Cone-shaped metacarpal epiphyses,... OMIM:607778
Marshall Syndrome
Long philtrum, Micrognathia, Small distal femoral epiphysis, Irregular femoral epiphysis, Cleft p... OMIM:154780
Greenberg Dysplasia
Brachydactyly, Anterior rib punctate calcifications, Abnormal pelvis bone ossification, Rhizomeli... ORPHA:1426
Chromosome 20Q11-Q12 Deletion Syndrome
Brachydactyly, Short philtrum, Tarsal osteovalgus, Midface retrusion, Adducted thumb, Frontal bos... OMIM:614257
W Syndrome
Clinodactyly, Hypoplasia of the ulna, Broad uvula, Upper lip pit, Pes planus, Elbow dislocation, ... ORPHA:2804
Polydactyly, Preaxial Ii
Postaxial foot polydactyly, Opposable triphalangeal thumb, Syndactyly, Duplication of phalanx of ... OMIM:174500
Chondrodysplasia Punctata, Tibia-Metacarpal Type
Short 4th metacarpal, Epiphyseal stippling, Midface retrusion, Micromelia, Malar flattening, Limb... OMIM:118651
Spondylometaphyseal Dysplasia With Cone-Rod Dystrophy
Brachydactyly, Metaphyseal irregularity, Hypoplastic inferior ilia, Joint stiffness, Short metaca... OMIM:608940
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type
Hypoplastic ischia, Wormian bones, Short ribs, Squared iliac bones, Deep philtrum, Metaphyseal cu... OMIM:613320
Whistling Face Syndrome, Recessive Form
Narrow mouth, High palate, Elbow flexion contracture, Long philtrum, Trismus, Micrognathia, Knee ... OMIM:277720
Radial Hemimelia
Abnormal thumb morphology, Deviation of the hand or of fingers of the hand, Abnormality of the sc... ORPHA:93321
Spondyloepimetaphyseal Dysplasia, Irapa Type
Synostosis of carpal bones, Short palm, Abnormality of epiphysis morphology, Short metacarpal, Up... ORPHA:93351
Multiple Metaphyseal Dysplasia
Brachydactyly, Abnormal hip bone morphology, Abnormality of epiphysis morphology, Aplasia/Hypopla... ORPHA:93430
Crossed Polysyndactyly
Aplasia/Hypoplasia of the thumb, Postaxial hand polydactyly, Finger syndactyly, Abnormality of th... ORPHA:2935
Craniosynostosis, Adelaide Type
Shortening of all distal phalanges of the fingers, Craniosynostosis, Shortening of all middle pha... OMIM:600593
Arthrogryposis, Distal, Type 2B2
Brachydactyly, Clinodactyly, Narrow mouth, Sandal gap, Overlapping fingers, Tapered finger, Broad... OMIM:618435
Spondylometaphyseal Dysplasia, Kozlowski Type
Genu varum, Abnormal ilium morphology, Short greater sciatic notch, Squared iliac bones, Abnormal... ORPHA:93314
20Q11.2 Microdeletion Syndrome
Brachydactyly, Short philtrum, Talipes calcaneovalgus, Midface retrusion, Adducted thumb, Frontal... ORPHA:444051
Skeletal Dysplasia With Delayed Epiphyseal And Carpal Bone Ossification
Broad middle phalanx of finger, Delayed ossification of carpal bones, Clinodactyly of the 5th fin... OMIM:182255
Spondyloepimetaphyseal Dysplasia, Missouri Type
Genu varum, Flattened epiphysis, Flared iliac wing, Rhizomelia, Tibial bowing, Osteoarthritis, Me... OMIM:602111
Growth Delay-Hydrocephaly-Lung Hypoplasia Syndrome
Bowing of the long bones, Intestinal malrotation, Abnormality of fibula morphology, Tibial bowing... ORPHA:3035
Brachydactyly, Type B1
Short long bone, Hypoplastic sacrum, Aplasia/Hypoplasia of the distal phalanges of the hand, Join... OMIM:113000
Contractural Arachnodactyly, Congenital
Distal arthrogryposis, Micrognathia, Patellar dislocation, Ventricular septal defect, Mitral regu... OMIM:121050
Fibular Aplasia-Complex Brachydactyly Syndrome
Brachydactyly, Abnormal hip bone morphology, Abnormal thumb morphology, Synostosis of carpal bone... ORPHA:2639
Odontochondrodysplasia 1
Genu varum, Delayed ossification of carpal bones, Long philtrum, Osteoporosis, Micromelia, Metaph... OMIM:184260
Ulna Hypoplasia-Intellectual Disability Syndrome
Hypoplasia of the ulna, Joint stiffness, Talipes, Hypoplasia of the radius, Elbow dislocation, Me... ORPHA:2249
Dyggve-Melchior-Clausen Disease
Genu varum, Pes planus, Clinodactyly of the 5th finger, Rhizomelic arm shortening, Broad palm, Hy... OMIM:223800
Fetal Akinesia Deformation Sequence 4
High palate, Flexion contracture, Skeletal muscle atrophy, Rocker bottom foot, Micrognathia, Poly... OMIM:618393
C Syndrome
Clinodactyly, Micrognathia, Micromelia, Ventricular septal defect, Hip dislocation, Accessory ora... OMIM:211750
Hypochondroplasia
Brachydactyly, Genu varum, Bowing of the long bones, Abnormality of pelvic girdle bone morphology... ORPHA:429
Intellectual Developmental Disorder With Short Stature And Variable Skeletal Anomalies
Arrhythmia, Clinodactyly of the 5th finger, Short thumb, Camptodactyly, Overlapping toe OMIM:618453
Cornelia De Lange Syndrome 2
Brachydactyly, Clinodactyly, High palate, Hypertrophic cardiomyopathy, Micrognathia, Proximal pla... OMIM:300590
Hydrocephalus With Associated Malformations
Intestinal malrotation, Tibial bowing, Abnormal foot morphology, Micrognathia, Omphalocele, Lower... OMIM:236640
Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly
Microdontia, Short uvula, Micromelia, Ascites, Cleft palate, Bowing of the long bones, Brachydact... OMIM:614091
Cantu Syndrome
Congenital hypertrophy of left ventricle, Coxa valga, Long philtrum, Broad first metatarsal, Shor... OMIM:239850
Acromesomelic Dysplasia 4
Genu varum, Prominent deltoid tuberosities, Sandal gap, Third degree atrioventricular block, Shor... OMIM:619636
Platyspondylic Dysplasia, Torrance Type
Bowing of the long bones, Genu varum, Abnormal carpal morphology, Short palm, Hydrops fetalis, Hy... ORPHA:85166
Ehlers-Danlos Syndrome, Musculocontractural Type, 2
Narrow mouth, High palate, Patent foramen ovale, Long philtrum, Facial hypotonia, Midface retrusi... OMIM:615539
Camptosynpolydactyly, Complex
Polydactyly, Camptodactyly, Syndactyly, Cutaneous syndactyly OMIM:607539
Autosomal Recessive Omodysplasia
Craniosynostosis, Pterygium, Long philtrum, Hernia, Rhizomelia, Elbow dislocation, Micrognathia, ... ORPHA:93329
Arthrogryposis, Distal, Type 1B
Distal arthrogryposis, Contractures involving the joints of the feet, Rocker bottom foot, Arthrog... OMIM:614335
Spondyloepimetaphyseal Dysplasia, Shohat Type
Genu varum, Metaphyseal irregularity, Vertebral hypoplasia, Short femoral neck, Short ribs, Joint... OMIM:602557
Femur-Fibula-Ulna Complex
Abnormality of the ulna, Finger syndactyly, Abnormality of femur morphology, Micromelia, Short hu... ORPHA:2019
Metatropic Dysplasia
Joint stiffness, Abnormal enchondral ossification, Clinodactyly of the 5th finger, Micromelia, Hy... ORPHA:2635
Microphthalmia With Limb Anomalies
Abnormal thumb morphology, Long philtrum, Hypoplasia of the premaxilla, Fibular hypoplasia, Sanda... ORPHA:1106
Odontochondrodysplasia
Bowing of the long bones, Coxa valga, Square pelvis bone, Short palm, Delayed eruption of teeth, ... ORPHA:166272
Kyphomelic Dysplasia
Bowing of the long bones, Missing ribs, Joint stiffness, Micrognathia, Micromelia, Abnormality of... ORPHA:1801
Spondyloepimetaphyseal Dysplasia, Missouri Type
Genu varum, Metaphyseal irregularity, Flattened epiphysis, Knee osteoarthritis, Tibial bowing, Fl... ORPHA:93356
Microcephalic Osteodysplastic Primordial Dwarfism, Type Ii
Distal symphalangism, Clinodactyly of the 5th finger, Cone-shaped epiphysis, Microdontia, Hypopla... OMIM:210720
Achondrogenesis Type 1A
Long philtrum, Short palm, Abnormal enchondral ossification, Recurrent fractures, Hydrops fetalis... ORPHA:93299
Wahab Syndrome
Clinodactyly, Short palm, Short metacarpal, Short thumb, Adducted thumb, Ankylosis, Camptodactyly... OMIM:615170
Vitamin D Hydroxylation-Deficient Rickets, Type 1A
Enlargement of the ankles, Bowing of the legs, Bulging epiphyses, Metaphyseal irregularity, Delay... OMIM:264700
Phocomelia, Schinzel Type
Talipes, Micrognathia, High, narrow palate, Micromelia, Aplasia of the ulna, Cleft palate, Bowing... ORPHA:2879
Dyssegmental Dysplasia, Rolland-Desbuquois Type
Bowing of the long bones, Advanced ossification of carpal bones, Short ribs, Limitation of joint ... OMIM:224400
Acrodysostosis
Brachydactyly, Accelerated skeletal maturation, Abnormality of the ulna, Hypoplasia of the ulna, ... ORPHA:950
Weismann-Netter Syndrome
Anterior tibial bowing, Squared iliac bones, Lateral femoral bowing, Delayed eruption of permanen... OMIM:112350
Robinow Syndrome, Autosomal Recessive 2
Brachydactyly, Clinodactyly, Absent uvula, Long philtrum, Ventral hernia, Micrognathia, Midface r... OMIM:618529
Thanatophoric Dysplasia
Brachydactyly, Abnormal ilium morphology, Joint stiffness, Atrial septal defect, Midface retrusio... ORPHA:2655
Weismann-Netter Syndrome
Bowing of the long bones, Abnormal hip bone morphology, Abnormality of the ulna, Tibial bowing, A... ORPHA:3344
Ruvalcaba Syndrome
Short palm, Short metacarpal, Short phalanx of finger, Micromelia, Limited elbow extension, Ingui... OMIM:180870
Acrofrontofacionasal Dysostosis
Brachydactyly, High palate, Abnormality of epiphysis morphology, Non-midline cleft lip, Everted l... ORPHA:1784
Osteogenesis Imperfecta, Type Iii
Decreased calvarial ossification, Wormian bones, Recurrent fractures, Multiple prenatal fractures... OMIM:259420
Carpenter Syndrome 1
Genu varum, Joint contracture of the hand, Clinodactyly of the 5th finger, Complete duplication o... OMIM:201000
Uruguay Faciocardiomusculoskeletal Syndrome
Marked muscular hypertrophy, Mitral regurgitation, Progressive pes cavus, Joint contracture of th... OMIM:300280
Intellectual Disability-Spasticity-Ectrodactyly Syndrome
Abnormal hip bone morphology, Finger syndactyly, Clinodactyly of the 5th finger, Abnormality of t... ORPHA:1891
Short Stature-Obesity Syndrome
Brachydactyly, Clinodactyly of the 5th finger, Micrognathia, Micromelia, Limb undergrowth OMIM:269870
Blount Disease
Osteochondrosis, Tibial bowing, Abnormality of the knee, Abnormality of the proximal tibial epiph... ORPHA:2768
Short Rib-Polydactyly Syndrome
Abnormal ilium morphology, Abnormal pelvis bone morphology, Metaphyseal spurs, Cone-shaped epiphy... ORPHA:1505
Microbrachycephaly-Ptosis-Cleft Lip Syndrome
Brachydactyly, Abnormal thumb morphology, Shagreen patch, Short palm, Cone-shaped epiphysis, Unil... ORPHA:2511
Lujan-Fryns Syndrome
Brachydactyly, High palate, Short philtrum, Abnormality of the dentition, Atrial septal defect, M... ORPHA:776
Vitamin D-Dependent Rickets, Type 2A
Enlargement of the ankles, Bowing of the legs, Bulging epiphyses, Metaphyseal irregularity, Delay... OMIM:277440
Aminopterin Syndrome Sine Aminopterin
Brachydactyly, Clinodactyly, High palate, Oligodontia, Syndactyly, Short thumb, Micrognathia, Ara... OMIM:600325
Acromesomelic Dysplasia, Grebe Type
Brachydactyly, Bowing of the long bones, Synostosis of carpal bones, Joint stiffness, Fibular hyp... ORPHA:2098
Hypophosphatemic Rickets, X-Linked Dominant
Bowing of the legs, Metaphyseal irregularity, Abnormality of pelvic girdle bone morphology, Trape... OMIM:307800
Metaphyseal Chondrodysplasia, Schmid Type
Genu varum, Enlargement of the proximal femoral epiphysis, Broad middle phalanx of finger, Metaph... OMIM:156500
Kniest-Like Dysplasia With Pursed Lips And Ectopia Lentis
Absent ossification of capital femoral epiphysis, High palate, Narrow mouth, Flexion contracture,... OMIM:245160
Craniofacial Dysostosis With Diaphyseal Hyperplasia
Brachydactyly, Micromelia, Thin calvarium, Limb undergrowth, Brachycephaly, Massively thickened l... OMIM:122900
Radioulnar Synostosis-Microcephaly-Scoliosis Syndrome
Finger syndactyly, Clinodactyly of the 5th finger, Abnormality of the philtrum, Radioulnar synost... ORPHA:3268
Congenital Radioulnar Synostosis
Wrist pain, Abnormality of the musculature of the upper arm, Dislocated radial head, Congenital h... ORPHA:3269
Short Stature, Optic Nerve Atrophy, And Pelger-Huet Anomaly
Brachydactyly, Single transverse palmar crease, Long philtrum, Sandal gap, Micromelia, Brachyceph... OMIM:614800
Achondrogenesis Type 1B
Long philtrum, Abnormal enchondral ossification, Hydrops fetalis, Micrognathia, Femoral hernia, M... ORPHA:93298
Otopalatodigital Syndrome, Type I
Prominent occiput, Sandal gap, Abnormality of the fifth metatarsal bone, Bulbous tips of toes, Mu... OMIM:311300
Vitamin D Hydroxylation-Deficient Rickets, Type 1B
Enlargement of the ankles, Bowing of the legs, Bulging epiphyses, Metaphyseal irregularity, Recur... OMIM:600081
Ehlers-Danlos Syndrome, Dermatosparaxis Type
Everted lower lip vermilion, Micrognathia, Gingival hyperkeratosis, Micromelia, Inguinal hernia, ... OMIM:225410
Muenke Syndrome
Brachydactyly, Clinodactyly, High palate, Dental malocclusion, Thimble-shaped middle phalanges of... OMIM:602849
Recombinant Chromosome 8 Syndrome
Tetralogy of Fallot, Abnormality of the dentition, Atrial septal defect, Clinodactyly of the 5th ... OMIM:179613
Short Stature, Amelogenesis Imperfecta, And Skeletal Dysplasia With Scoliosis
Advanced ossification of carpal bones, Flattened epiphysis, Amelogenesis imperfecta, Pierre-Robin... OMIM:618363
Palant Cleft Palate Syndrome
Contracture of the proximal interphalangeal joint of the 4th finger, Contracture of the proximal ... OMIM:260150
Perching Syndrome
High palate, Camptodactyly, Flexion contracture OMIM:617055
Feingold Syndrome 2
2-3 toe syndactyly, 3-4 toe syndactyly, Short thumb, Short middle phalanx of the 2nd finger, Vent... OMIM:614326
Acrocapitofemoral Dysplasia
Genu varum, Cone-shaped metacarpal epiphyses, Abnormal femoral neck morphology, Short palm, Flare... ORPHA:63446
Pierre Robin Syndrome
Pierre-Robin sequence, Micrognathia, Glossoptosis, Cor pulmonale, Cleft palate OMIM:261800
3P25.3 Microdeletion Syndrome
Acromesomelia, Tapered finger, Micrognathia, High, narrow palate, Ventricular septal defect, Mand... ORPHA:435638
Syndactyly, Type Iii
4-5 finger syndactyly, Absent middle phalanx of 5th finger, Short 5th finger, Syndactyly OMIM:186100
German Syndrome
High palate, Tetralogy of Fallot, Dolichocephaly, Open mouth, Everted lower lip vermilion, Microg... ORPHA:2077
Ulnar Hypoplasia
Hypoplasia of the ulna, Radial dysplasia, Hypoplasia of the radius, Distal ulnar hypoplasia, Meso... OMIM:191440
Liebenberg Syndrome
Brachydactyly, Radially deviated wrists, Joint contracture of the 5th finger, Metaphyseal widenin... OMIM:186550
Achondrogenesis Type 2
Pierre-Robin sequence, Absent vertebral body mineralization, Delayed proximal femoral epiphyseal ... ORPHA:93296
Osteogenesis Imperfecta, Type Ii
Wormian bones, Abnormality of pelvic girdle bone morphology, Recurrent fractures, Multiple prenat... OMIM:166210
Hennekam Lymphangiectasia-Lymphedema Syndrome 1
Intestinal lymphangiectasia, Rectal prolapse, Hypoplastic iliac wing, Thyroid lymphangiectasia, V... OMIM:235510
Metaphyseal Chondrodysplasia, Kaitila Type
Finger joint hypermobility, Metaphyseal irregularity, Enlarged joints, Delayed proximal femoral e... OMIM:250230
Congenital Contractures Of The Limbs And Face, Hypotonia, And Developmental Delay
Elbow flexion contracture, Long philtrum, Micrognathia, Knee flexion contracture, Inguinal hernia... OMIM:616266
Catel-Manzke Syndrome
Overriding aorta, High palate, Ulnar deviation of the 2nd finger, Single transverse palmar crease... OMIM:616145
Cartilage-Hair Hypoplasia
Abnormal hip bone morphology, Abnormal distal phalanx morphology of finger, Abnormal bone ossific... ORPHA:175
Kyphomelic Dysplasia
Cleft upper lip, Pterygium, Short metacarpal, Limitation of joint mobility, Tibial bowing, Dumbbe... OMIM:211350
Feingold Syndrome Type 2
Brachydactyly, Toe syndactyly, Short thumb, Jejunal atresia, Short middle phalanx of finger, Vent... ORPHA:391646
Mmep Syndrome
Triphalangeal thumb, Ventricular septal defect, Mandibular prognathia, Oral cleft, Split foot, Me... ORPHA:3434
Metaphyseal Anadysplasia 2
Metaphyseal widening, Bowing of the legs, Metaphyseal irregularity, Short femoral neck OMIM:613073
Symphalangism With Multiple Anomalies Of Hands And Feet
Brachydactyly, Small thenar eminence, Small hypothenar eminence, Symphalangism affecting the phal... ORPHA:3246
Microcephaly, Facial Dysmorphism, Renal Agenesis, And Ambiguous Genitalia Syndrome
Bilateral talipes equinovarus, High palate, Atrial septal defect, Overlapping fingers, Preaxial p... OMIM:618142
Phocomelia-Ectrodactyly, Ear Malformation, Deafness, And Sinus Arrhythmia
Genu varum, Shoulder dislocation, Phocomelia, Absent radius, Fibular hypoplasia, Aplasia/Hypoplas... OMIM:171480
Dysostosis, Stanescu Type
Bowing of the long bones, Brachydactyly, Wormian bones, Abnormal palate morphology, Increased bon... ORPHA:1798
Grant Syndrome
Tibial bowing, Wormian bones, Down-sloping shoulders, Micrognathia OMIM:138930
Achondrogenesis
Long philtrum, Abnormal enchondral ossification, Hydrops fetalis, Micrognathia, Micromelia, Ingui... ORPHA:932
Acromesomelic Dysplasia 1
Acromesomelia, Cone-shaped epiphyses of the phalanges of the hand, Short metacarpal, Broad metata... OMIM:602875
Cenani-Lenz Syndrome
Synostosis of carpal bones, Toe syndactyly, Short philtrum, Hypoplasia of the ulna, Finger syndac... ORPHA:3258
Syndactyly Type 1
Toe syndactyly, Symphalangism affecting the phalanges of the hand, Finger syndactyly ORPHA:93402
Multiple Synostoses Syndrome 3
Dolichocephaly, Limited interphalangeal movement, Broad hallux, Cubitus valgus, Humeroradial syno... OMIM:612961
Nasodigitoacoustic syndrome
High palate, Enlarged epiphyses, Short phalanx of finger, Thick upper lip vermilion, Broad hallux... OMIM:255980
Arthrogryposis, Perthes Disease, And Upward Gaze Palsy
Atrial septal defect, Pulmonic stenosis, Ventricular septal defect, Pyloric stenosis, Arthrogrypo... OMIM:614262
Arthrogryposis, Distal, Type 1A
Absent distal interphalangeal creases, Trismus, Hand clenching, Ulnar deviation of the hand or of... OMIM:108120
Vitamin D-Dependent Rickets, Type 2B, With Normal Vitamin D Receptor
Bowing of the long bones, Genu varum, Bulging epiphyses, Metaphyseal irregularity, Knee pain, Gen... OMIM:600785
Symphalangism With Multiple Anomalies Of Hands And Feet
Reduced proximal interphalangeal joint space, Small thenar eminence, Small hypothenar eminence, T... OMIM:185750
Dyschondrosteosis-Nephritis Syndrome
Microdontia, Madelung deformity, Micromelia, Ulnar bowing, Radial bowing, Aplasia/Hypoplasia of t... ORPHA:1765
Campomelic Dysplasia
Narrow iliac wing, Absent sternal ossification, Long philtrum, Tracheomalacia, Fibular hypoplasia... OMIM:114290
Craniosynostosis And Dental Anomalies
Clinodactyly, Lambdoidal craniosynostosis, Craniosynostosis, 2-3 toe syndactyly, Delayed eruption... OMIM:614188
Eng-Strom Syndrome
Brachydactyly, Ventricular septal defect, Camptodactyly of finger, Arthritis, Abnormal cardiac se... ORPHA:1937
Congenital Disorder Of Glycosylation, Type Il
Hepatosplenomegaly, Long philtrum, Abnormal cardiac septum morphology, Frontal bossing, Hip dislo... OMIM:608776
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type
Multiple prenatal fractures, Decreased fibular diameter, Decreased skull ossification, Micrognath... OMIM:616897
Aminopterin/Methotrexate Embryofetopathy
Tetralogy of Fallot, Finger syndactyly, Talipes, Non-midline cleft lip, Aplasia/Hypoplasia of the... ORPHA:1908
Ectrodactyly Of Lower Limbs, Congenital Heart Defect, And Micrognathia
Tetralogy of Fallot, Hypoplastic right heart, Micrognathia, Ventricular septal defect, Split foot OMIM:601348
Arthrogryposis Multiplex Congenita 1, Neurogenic, With Myelin Defect
High palate, Distal arthrogryposis, Internally rotated shoulders, Elbow flexion contracture, Flex... OMIM:617468
Melnick-Needles Syndrome
Pes planus, Micrognathia, Genu valgum, Cleft palate, Tooth malposition, Hip dislocation, Cone-sha... OMIM:309350
Ectodermal Dysplasia, Ectrodactyly, And Macular Dystrophy Syndrome
Joint contracture of the hand, Microdontia, Widely spaced teeth, Selective tooth agenesis, Campto... OMIM:225280
Jeune Syndrome
Brachydactyly, Toe syndactyly, Abnormality of pelvic girdle bone morphology, Postaxial foot polyd... ORPHA:474
Gordon Syndrome
High palate, Finger syndactyly, Talipes, Limitation of joint mobility, Clinodactyly of the 5th fi... ORPHA:376
Ritscher-Schinzel Syndrome 1
Prominent occiput, Tetralogy of Fallot, Missing ribs, Atrial septal defect, Double outlet right v... OMIM:220210
Ritscher-Schinzel Syndrome 2
Clinodactyly, Short philtrum, Protruding tongue, Atrial septal defect, Broad hallux, Short distal... OMIM:300963
Triphalangeal Thumb, Nonopposable
Triphalangeal thumb, Polydactyly OMIM:190600
Congenital Insensitivity To Pain With Severe Intellectual Disability
Recurrent fractures, Rocker bottom foot, Tibial bowing, Congenital bilateral hip dislocation, Mic... ORPHA:453510
4Q21 Microdeletion Syndrome
Toe syndactyly, Short philtrum, Short palm, Micromelia, Frontal bossing, Large fontanelles, Small... ORPHA:238750
Arthrogryposis, Distal, Type 7
Distal arthrogryposis, Hammertoe, Trismus, Deep philtrum, Metatarsus adductus, Micrognathia, Arth... OMIM:158300
Mosaic Trisomy 9
Prominent occiput, Endocardial fibroelastosis, Dextrocardia, Micrognathia, Micromelia, Ventricula... ORPHA:99776
Mesomelic Dwarfism, Reinhardt-Pfeiffer Type
Synostosis of carpal bones, Abnormality of the ulna, Hypoplasia of the ulna, Fibular hypoplasia, ... ORPHA:2634
Corpus Callosum, Agenesis Of
Frontal bossing, Camptodactyly, Joint contracture of the hand OMIM:217990
Microcephaly-Micromelia Syndrome
Narrow mouth, Craniosynostosis, Absent radius, Oligodactyly, Micrognathia, Micromelia, Short tibi... OMIM:251230
Cataract-Intellectual Disability-Hypogonadism Syndrome
Abnormal distal phalanx morphology of finger, High palate, Short philtrum, Everted lower lip verm... ORPHA:1387
Antley-Bixler Syndrome Without Genital Anomalies Or Disordered Steroidogenesis
Lambdoidal craniosynostosis, Flexion contracture, Long philtrum, Coronal craniosynostosis, Rocker... OMIM:207410
Craniofaciofrontodigital Syndrome
Long philtrum, Gastrointestinal hemorrhage, Hernia, Osteoporosis, Macroglossia, Ventricular septa... ORPHA:363705
Chromosome 3Pter-P25 Deletion Syndrome
High palate, Trigonocephaly, Long philtrum, Postaxial polydactyly, Tapered finger, Micrognathia, ... OMIM:613792
Multicentric Osteolysis, Nodulosis, And Arthropathy
Metatarsal osteolysis, Carpal osteolysis, Pes planus, Metacarpal osteolysis, Osteoporosis, Microg... OMIM:259600
Intellectual Developmental Disorder, Autosomal Recessive 73
Single transverse palmar crease, Drooling, Osteopenia, Dolichocephaly, Pes planus, Clinodactyly o... OMIM:619717
Bowen-Conradi Syndrome
Joint stiffness, Rocker bottom foot, Clinodactyly of the 5th finger, Micrognathia, Oral cleft, Ca... ORPHA:1270
Arthrogryposis, Distal, Type 1C
Bifid uvula, Clinodactyly of the 5th finger, Camptodactyly of toe, Retrognathia, Cleft palate, Na... OMIM:619110
Leri-Weill dyschondrostosis (LWD) - SHOX deletion
Radial bowing, Madelung deformity, Limited pronation/supination of forearm DECIPHER:58
14Q11.2 Microdeletion Syndrome
Narrow mouth, Toe syndactyly, High palate, Toe clinodactyly, Long philtrum, Everted lower lip ver... ORPHA:261120
Congenital Osteogenesis Imperfecta-Microcephaly-Cataracts Syndrome
Decreased calvarial ossification, Recurrent fractures, Micromelia, Hypoplastic left heart, Ventri... ORPHA:2772
Alkuraya-Kucinskas Syndrome
Clinodactyly, High palate, Plagiocephaly, Cutaneous syndactyly, Overlapping fingers, Abnormal foo... OMIM:617822
Acromesomelic Dysplasia, Hunter-Thompson Type
Brachydactyly, Acromesomelia, Abnormality of pelvic girdle bone morphology, Joint stiffness, Shor... ORPHA:968
Raine Syndrome
Microdontia, Micrognathia, Micromelia, Mandibular prognathia, Arthrogryposis multiplex congenita,... OMIM:259775
Frontonasal Dysplasia 1
Brachydactyly, Clinodactyly, Tetralogy of Fallot, Hypoplastic frontal sinuses, Median cleft palat... OMIM:136760
Potocki-Shaffer Syndrome
Brachydactyly, Short philtrum, 2-5 finger cutaneous syndactyly, Wormian bones, Single transverse ... OMIM:601224
Thanatophoric Dysplasia Type 1
Bowing of the long bones, Brachydactyly, Joint stiffness, Short greater sciatic notch, Atrial sep... ORPHA:1860
Grant Syndrome
Bowing of the long bones, Wormian bones, Abnormality of pelvic girdle bone morphology, Abnormal p... ORPHA:2097
Mesomelic Dysplasia, Kantaputra Type
Carpal synostosis, Radial bowing, Mesomelia, Tarsal synostosis OMIM:156232
Pseudodiastrophic Dysplasia
Rhizomelia, Hypoplasia of the odontoid process, Elbow dislocation, Micrognathia, Midface retrusio... OMIM:264180
Spondylometaphyseal Dysplasia, A4 Type
Micromelia, Limitation of joint mobility, Short palm, Coxa vara ORPHA:168555
Mesoaxial Hexadactyly And Cardiac Malformation
Abnormal 3rd finger morphology, Atrial septal defect, Everted lower lip vermilion, Hand polydacty... OMIM:249670
Thanatophoric Dysplasia Type 2
Brachydactyly, Atrial septal defect, Micromelia, Cloverleaf skull, Polyhydramnios, Frontal bossin... ORPHA:93274
Craniofrontonasal Dysplasia
Brachydactyly, Congenital pseudoarthrosis of the clavicle, High palate, Craniosynostosis, Finger ... ORPHA:1520
Hennekam Lymphangiectasia-Lymphedema Syndrome 2
Narrow mouth, Intestinal lymphangiectasia, Osteoporosis, Pulmonary lymphangiectasia, Lymphedema, ... OMIM:616006
Hallux Varus And Preaxial Polysyndactyly
Preaxial hand polydactyly, Broad hallux, Hallux varus, Syndactyly OMIM:234280
Spondyloepimetaphyseal Dysplasia, Borochowitz-Cormier-Daire Type
Irregular epiphyses, Narrow iliac wing, Bowing of the legs, Hypoplastic pubic bone, Metaphyseal s... OMIM:608728
Non-Syndromic Bicoronal Craniosynostosis
Brachydactyly, Metacarpal synostosis, Brachycephaly, Midface retrusion ORPHA:35099
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome
Bowing of the long bones, Short philtrum, Abnormality of epiphysis morphology, Rhizomelia, Decrea... ORPHA:93267
Camptodactyly With Muscular Hypoplasia, Skeletal Dysplasia, And Abnormal Palmar Creases
Dermatoglyphic ridges abnormal, Small thenar eminence, Small hypothenar eminence, Long philtrum, ... OMIM:211960
Cardioacrofacial Dysplasia 1
Complete atrioventricular canal defect, Accessory oral frenulum, Short philtrum, Postaxial polyda... OMIM:619142
Lethal Faciocardiomelic Dysplasia
Narrow mouth, Hypoplasia of the ulna, Fibular hypoplasia, Radial club hand, Sandal gap, Short 5th... ORPHA:1972
Dyssegmental Dysplasia, Silverman-Handmaker Type
Narrow mouth, Bowing of the legs, Hypoplastic ischia, Hypoplastic pubic bone, Flexion contracture... ORPHA:1865
2Q32Q33 Microdeletion Syndrome
Narrow mouth, High palate, Toe clinodactyly, Long philtrum, Joint hyperflexibility, Clinodactyly ... ORPHA:251019
Severe Intellectual Disability-Epilepsy-Anal Anomalies-Distal Phalangeal Hypoplasia
Short philtrum, Ectopic anus, Plagiocephaly, Aplasia/Hypoplasia of the distal phalanges of the ha... ORPHA:94066
Hypophosphatemic Rickets With Hypercalciuria, Hereditary
Enlargement of the ankles, Bowing of the legs, Bulging epiphyses, Metaphyseal irregularity, Recur... OMIM:241530
8Q12 Microduplication Syndrome
Narrow mouth, Long philtrum, Atrial septal defect, Everted lower lip vermilion, Ventricular septa... ORPHA:228399
Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency
Clinodactyly, High palate, Plagiocephaly, Patent foramen ovale, Arthrogryposis-like hand anomaly,... ORPHA:369891
Müllerian Duct Anomalies-Limb Anomalies Syndrome
Micromelia, Postaxial hand polydactyly, Short humerus, Aplasia/Hypoplasia of the ulna, Abnormalit... ORPHA:2491
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14
Abnormal distal phalanx morphology of finger, Long philtrum, Diastasis recti, Metaphyseal spurs, ... ORPHA:96334
Upper Limb Mesomelic Dysplasia
Ulnar deviation of finger, Hypoplasia of the ulna, Radial bowing ORPHA:2497
Baller-Gerold Syndrome
Bowing of the long bones, Abnormal carpal morphology, Narrow mouth, High palate, Hand oligodactyl... ORPHA:1225
Anauxetic Dysplasia 1
Brachydactyly, Delayed ossification of carpal bones, Rhizomelia, Cervical subluxation, Hypodontia... OMIM:607095
Microcephaly-Cardiomyopathy Syndrome
Dilated cardiomyopathy, Sandal gap, Clinodactyly of the 5th finger, High, narrow palate, Ventricu... ORPHA:2515
Isolated Congenital Hypoglossia/Aglossia
Temporomandibular joint ankylosis, Aplasia/Hypoplasia of fingers, Micrognathia, Microglossia, Cle... ORPHA:141152
Syndactyly, Type Iv
6 metacarpals, 2-3 toe syndactyly, Triphalangeal thumb, Supernumerary metacarpal bones, Polydacty... OMIM:186200
Pierre Robin Syndrome And Oligodactyly
Pierre-Robin sequence, Hand oligodactyly, Micrognathia, Cleft palate OMIM:172880
3M Syndrome
Long philtrum, Clinodactyly of the 5th finger, Everted lower lip vermilion, Micromelia, Scapular ... ORPHA:2616
Tibial Torsion, Bilateral Medial
Tibial torsion, Bowing of the legs, Abnormality of tibia morphology OMIM:188800
Pierpont Syndrome
Abnormality of the plantar skin of foot, Pes planus, Joint laxity, Everted lower lip vermilion, W... ORPHA:487825
Ruvalcaba Syndrome
Brachydactyly, Synostosis of carpal bones, Narrow mouth, Short metacarpal, Clinodactyly of the 5t... ORPHA:3121
Pierpont Syndrome
Short palm, Broad palm, Everted lower lip vermilion, Widely spaced teeth, Long upper lip, Promine... OMIM:602342
Cerebrooculofacioskeletal Syndrome 1
Coxa valga, Elbow flexion contracture, Long philtrum, Second metatarsal posteriorly placed, Rocke... OMIM:214150
Ellis Van Creveld Syndrome
Foot polydactyly, Microdontia, Dextrocardia, Micromelia, Ventricular septal defect, Atrioventricu... ORPHA:289
Hyperekplexia 4
High palate, Distal arthrogryposis, Flexion contracture, Inguinal hernia, Adducted thumb, Talipes... OMIM:618011
Spinal Muscular Atrophy With Mental Retardation
Spinal muscular atrophy, Syndactyly OMIM:271109
Rhizomelic Syndrome, Urbach Type
Brachydactyly, High palate, Abnormality of epiphysis morphology, Rhizomelia, Limitation of joint ... ORPHA:3098
Radial Hypoplasia-Triphalangeal Thumbs-Hypospadias-Maxillary Diastema Syndrome
Nonopposable triphalangeal thumb, Hypoplasia of the radius, Micromelia, Mandibular prognathia ORPHA:2252
Hypophosphatasia, Infantile
Bowing of the legs, Decreased calvarial ossification, Craniosynostosis, Abnormality of the dentit... OMIM:241500
Pseudoachondroplasia
Genu varum, Flared femoral metaphysis, Irregular carpal bones, Metaphyseal widening, Fragmented e... OMIM:177170
Heart-Hand Syndrome, Slovenian Type
Brachydactyly, Clinodactyly, Dilated cardiomyopathy, Aplasia of the middle phalanx of the hand, M... OMIM:610140
Intellectual Developmental Disorder, Autosomal Recessive 33
Short toe, Syndactyly OMIM:614341
Short-Rib Thoracic Dysplasia 17 With Or Without Polydactyly
Brachydactyly, Polydactyly OMIM:617405
Martsolf Syndrome 1
High palate, Short philtrum, Cardiac arrest, Short palm, Tracheomalacia, Congestive heart failure... OMIM:212720
Mend Syndrome
High palate, 2-3 toe syndactyly, Overlapping fingers, Polydactyly, Midface retrusion, Long finger... OMIM:300960
Apert Syndrome
Bifid uvula, Cervical C5/C6 vertebrae fusion, Micromelia, Cloverleaf skull, Hypertension, Mandibu... ORPHA:87
Hypocalcemic Vitamin D-Dependent Rickets
Enlargement of the ankles, Genu varum, Delayed eruption of teeth, Enlargement of the wrists, Enam... ORPHA:289157
Mesomelic Dwarfism-Cleft Palate-Camptodactyly Syndrome
Bowing of the long bones, Abnormal hip bone morphology, Abnormality of epiphysis morphology, Elbo... ORPHA:2631
Periventricular Nodular Heterotopia 7
Flexion contracture, 2-3 toe syndactyly, Micrognathia, Cleft palate OMIM:617201
Geroderma Osteodysplasticum
Wormian bones, Osteopenia, Recurrent fractures, Tibial bowing, Periodontitis, Osteoporosis, Incre... OMIM:231070
Terminal Osseous Dysplasia
Brachydactyly, Toe clinodactyly, Multiple joint contractures, Mesomelic leg shortening, Abnormal ... OMIM:300244
Winchester Syndrome
Generalized osteoporosis, Carpal osteolysis, Broad metacarpals, Arthropathy, Osteolysis involving... OMIM:277950
Image Syndrome
Micromelia, Frontal bossing, Metaphyseal dysplasia ORPHA:85173
Camptodactyly Syndrome, Guadalajara Type 1
Brachydactyly, Toe syndactyly, Narrow mouth, High palate, Open bite, Abnormality of dental erupti... ORPHA:1327
Syndactyly Type 3
Camptodactyly of finger, Finger syndactyly, Short toe ORPHA:93404
17Q21.31 Microduplication Syndrome
Toe syndactyly, High palate, Short philtrum, Sandal gap, Clinodactyly of the 5th finger, Microgna... ORPHA:217340
Pde4D Haploinsufficiency Syndrome
Long philtrum, Pes planus, Cone-shaped epiphysis, Micrognathia, Short toe, Mandibular prognathia,... ORPHA:439822
Spondyloepiphyseal Dysplasia-Craniosynostosis-Cleft Palate-Cataracts-Intellectual Disability Syndrome
Abnormality of cranial sutures, Long philtrum, Abnormal bone ossification, Micrognathia, Delayed ... ORPHA:163649
Intellectual Developmental Disorder, Autosomal Dominant 23
Long philtrum, Drooling, Sandal gap, Micrognathia, Broad distal phalanx of finger, Dental crowdin... OMIM:615761
Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 1
Shallow acetabular fossae, Clinodactyly of the 5th finger, Ulnar bowing, Proximal radio-ulnar syn... OMIM:605432
Isolated Osteopoikilosis
Abnormal pelvis bone morphology, Abnormal bone ossification, Sclerotic scapulae, Abnormality of l... ORPHA:166119
Camptomelic Syndrome, Long-Limb Type
Micromelia, Bowing of the long bones OMIM:211990
Orofaciodigital Syndrome Xviii
Brachydactyly, Accessory oral frenulum, Short philtrum, Single transverse palmar crease, Sandal g... OMIM:617927
Fibular Aplasia, Tibial Campomelia, And Oligosyndactyly Syndrome
Hand oligodactyly, Tibial bowing, Foot oligodactyly, Fibular aplasia, Short tibia, Abnormality of... OMIM:246570
Classical-Like Ehlers-Danlos Syndrome Type 2
Abnormality of toe, Shoulder dislocation, Cellulitis, Ventral hernia, Long uvula, Hammertoe, Equi... ORPHA:536532
Smith-Magenis Syndrome
Brachydactyly, Short palm, Velopharyngeal insufficiency, Abnormality of the forearm, Pes planus, ... OMIM:182290
Arthrogryposis, Distal, Type 2B1
Narrow mouth, High palate, Distal arthrogryposis, Calcaneovalgus deformity, Long philtrum, Rocker... OMIM:601680
Syndactyly Type 5
3-4 finger syndactyly, 2-3 toe syndactyly, Clinodactyly of the 5th finger, Short distal phalanx o... ORPHA:93406
Caffey Disease
Bowing of the legs, Tibial bowing, Calvarial hyperostosis, Periosteal thickening of long tubular ... OMIM:114000
Mcdonough Syndrome
Clinodactyly, Short philtrum, Single transverse palmar crease, Diastasis recti, Atrial septal def... OMIM:248950
Osteopathia Striata-Cranial Sclerosis Syndrome
Bifid uvula, Micrognathia, High, narrow palate, Retrognathia, Coarse metaphyseal trabecularizatio... ORPHA:2780
Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency
Bifid uvula, Postaxial foot polydactyly, 2-3 toe syndactyly, Long philtrum, Intestinal malrotatio... ORPHA:404440
Phocomelia-Ectrodactyly-Deafness-Sinus Arrhythmia Syndrome
Hypoplasia of the ulna, Long philtrum, Arrhythmia, Radial club hand, Aplasia/Hypoplasia of the th... ORPHA:2878
Rhyns Syndrome
Brachydactyly, Osteopenia, Short femoral neck, Delayed skeletal maturation, Radial bowing, Thicke... OMIM:602152
Gillessen-Kaesbach-Nishimura Syndrome
Flexion contracture, Decreased skull ossification, Micrognathia, Congenital diaphragmatic hernia,... OMIM:263210
Endocardial Fibroelastosis
Abnormal palate morphology, Endocardial fibroelastosis, Congestive heart failure, Sandal gap, Mic... ORPHA:2022
Acitretin/Etretinate Embryopathy
High palate, Median cleft palate, Conotruncal defect, Bradycardia, Aplasia/hypoplasia involving b... ORPHA:40366
Orofaciodigital Syndrome Xvii
Clinodactyly, Tetralogy of Fallot, Central Y-shaped metacarpal, Prominent metopic ridge, Partial ... OMIM:617926
Epiphyseal Dysplasia, Multiple, 5
Irregular epiphyses, Metaphyseal irregularity, Premature osteoarthritis, Delayed ossification of ... OMIM:607078
Van Den Ende-Gupta Syndrome
Everted lower lip vermilion, Distal ulnar hypoplasia, High, narrow palate, Camptodactyly of toe, ... OMIM:600920
Greig Cephalopolysyndactyly Syndrome
Joint contracture of the hand, Metopic synostosis, Inguinal hernia, Camptodactyly of toe, Broad h... OMIM:175700
Mullegama-Klein-Martinez Syndrome
Short philtrum, Long philtrum, Pes planus, Clinodactyly of the 5th finger, Micrognathia, Polydact... OMIM:301022
Dyschondrosteosis And Nephritis
Madelung deformity, Short forearm, Ulnar bowing, Short tibia, Radial bowing OMIM:127350
Osebold-Remondini Syndrome
Broad toe, Carpal synostosis, Hypoplasia of the ulna, Bipartite calcaneus, Fibular hypoplasia, Ty... OMIM:112910
Ritscher-Schinzel Syndrome 3
Hypoplasia of the ulna, Shortening of all distal phalanges of the fingers, Atrioventricular canal... OMIM:619135
Thanatophoric Dysplasia, Glasgow Variant
Micromelia, Neonatal death, Hepatosplenomegaly OMIM:273680
Progressive Spondyloepimetaphyseal Dysplasia-Short Stature-Short Fourth Metatarsals-Intellectual Disability Syndrome
Abnormal hip bone morphology, Pes planus, Clinodactyly of the 5th finger, Cone-shaped epiphysis, ... ORPHA:457395
Distal Arthrogryposis Type 1
Narrow mouth, Abnormal hip bone morphology, Joint stiffness, Talipes, Rocker bottom foot, Overlap... ORPHA:1146
Aase-Smith Syndrome
Slender finger, Abnormal hip bone morphology, Joint stiffness, Multiple joint contractures, Trism... ORPHA:916
Cerebrooculofacioskeletal Syndrome 3
Rocker bottom foot, Micrognathia, Arthrogryposis multiplex congenita, Talipes equinovarus, Edema,... OMIM:616570
Astley-Kendall Dysplasia
Micromelia, Epiphyseal stippling ORPHA:85175
Multiple Epiphyseal Dysplasia Due To Collagen 9 Anomaly
Knee pain, Genu varum, Fragmentation of the metacarpal epiphyses, Abnormality of epiphysis morpho... ORPHA:166002
Split-Hand/Foot Malformation 3
Narrow mouth, High palate, Hypoplasia of the maxilla, Microretrognathia, Camptodactyly, Split han... OMIM:246560
Radio-Ulnar Synostosis-Amegakaryocytic Thrombocytopenia Syndrome
Radioulnar synostosis, Clinodactyly of the 5th finger, Finger syndactyly, Hip dysplasia ORPHA:71289
Ventricular Extrasystoles With Syncopal Episodes-Perodactyly-Robin Sequence Syndrome
Arrhythmia, Short 4th metacarpal, Aplasia/Hypoplasia of the distal phalanges of the toes, Tapered... ORPHA:3201
Greenberg Dysplasia
Talipes, Hypoplastic vertebral bodies, Multiple prenatal fractures, 11 pairs of ribs, Broad palm,... OMIM:215140
Micromelic Bone Dysplasia With Cloverleaf Skull
Micromelia, Cloverleaf skull OMIM:156830
Ollier Disease
Joint stiffness, Lymphangioma, Micromelia, Abnormality of the metaphysis, Osteolysis, Bone pain ORPHA:296
Spastic Paraplegia 20, Autosomal Recessive
Brachydactyly, Clinodactyly, Flexion contracture, Drooling, Hammertoe, Lower limb muscle weakness... OMIM:275900
Moebius Syndrome
Brachydactyly, Clinodactyly, High palate, Abnormality of pelvic girdle bone morphology, Bifid uvu... OMIM:157900
Impaired Intellectual Development And Distinctive Facial Features With Or Without Cardiac Defects
Clinodactyly, Plagiocephaly, Patent foramen ovale, Open mouth, Everted lower lip vermilion, Macro... OMIM:616789
Cornelia De Lange Syndrome 5
Toe syndactyly, High palate, Long philtrum, Clinodactyly of the 5th finger, Widely spaced teeth, ... OMIM:300882
Craniofacial Dysplasia-Short Stature-Ectodermal Anomalies-Intellectual Disability Syndrome
Trigonocephaly, Scaphocephaly, Atrial septal defect, Pes planus, Widely spaced teeth, Micrognathi... ORPHA:459061
Blount Disease, Adolescent
Genu varum, Bowing of the legs OMIM:259200
Inverted Duplicated Chromosome 15 Syndrome
Brachydactyly, High palate, Tetralogy of Fallot, Short philtrum, 2-3 toe syndactyly, Drooling, He... ORPHA:3306
Neurogenic Arthrogryposis Multiplex Congenita
Plagiocephaly, Flexion contracture, Scaphocephaly, Skeletal muscle atrophy, Rocker bottom foot, L... ORPHA:1143
Congenital Disorder Of Glycosylation, Type Iig
Pierre-Robin sequence, High palate, Osteopenia, Rhizomelia, Micrognathia, Midface retrusion, Smal... OMIM:611209
Metaphyseal Chondrodysplasia, Spahr Type
Bowing of the long bones, Genu varum, Abnormality of epiphysis morphology, Abnormality of the den... ORPHA:2501
Fibrochondrogenesis 1
Long philtrum, Fibular hypoplasia, Posterior vertebral hypoplasia, Clinodactyly of the 5th finger... OMIM:228520
Achondrogenesis, Type Ib
Absent or minimally ossified vertebral bodies, Short ribs, Hydrops fetalis, Micromelia, Inguinal ... OMIM:600972
Sandestig-Stefanova Syndrome
Clinodactyly, High palate, Trigonocephaly, Prominent metopic ridge, Rocker bottom foot, Muscular ... OMIM:618804
Cleidocranial Dysplasia
Abnormal thumb morphology, Open bite, Clinodactyly of the 5th finger, Tapered finger, Osteoporosi... ORPHA:1452
Campomelia, Cumming Type
Bowing of the long bones, Brachydactyly, Dolichocephaly, Hydrops fetalis, Micromelia, Lymphedema,... ORPHA:1318
Multiple Epiphyseal Dysplasia, Al-Gazali Type
Clinodactyly, Enlarged joints, Cutaneous syndactyly, Frontal bossing, Spindle-shaped finger, Dela... ORPHA:166024
Infantile Systemic Hyalinosis
Brachydactyly, Osteopenia, Short palm, Joint stiffness, Recurrent fractures, Osteoporosis, Increa... ORPHA:2176
Otopalatodigital Syndrome Type 1
Synostosis of carpal bones, Bowing of the long bones, Hypoplastic frontal sinuses, Short palm, In... ORPHA:90650
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects
Shoulder dislocation, Generalized osteoporosis, Long philtrum, Pes planus, Sandal gap, 11 pairs o... OMIM:245600
Endocrine-Cerebroosteodysplasia
Brachydactyly, Cleft upper lip, Sandal gap, Preaxial polydactyly, Micrognathia, Polydactyly, Micr... OMIM:612651
Split-Foot Malformation With Mesoaxial Polydactyly
Cutaneous syndactyly OMIM:616890
Rubinstein-Taybi Syndrome 2
High palate, Intestinal malrotation, Carious teeth, Broad hallux, Micrognathia, Increased overbit... OMIM:613684
Campomelic Dysplasia
Bowing of the long bones, Hypoplastic inferior ilia, Tracheomalacia, Recurrent fractures, Fibular... ORPHA:140
Bohring-Opitz Syndrome
Broad palm, Tapered finger, Micrognathia, Ventricular septal defect, Short toe, Retrognathia, Cle... OMIM:605039
Glutamine Deficiency, Congenital
Flexion contracture, Neonatal death, Micromelia, Bradycardia, Camptodactyly, Thin vermilion border OMIM:610015
Craniosynostosis-Hydrocephalus-Arnold-Chiari Malformation Type I-Radioulnar Synostosis Syndrome
Bowing of the long bones, Toe syndactyly, Craniosynostosis, Short palm, Long philtrum, Micrognath... ORPHA:171839
Filippi Syndrome
Short philtrum, Single transverse palmar crease, Cutaneous syndactyly, Hypodontia, Microdontia, 2... OMIM:272440
Fibrochondrogenesis
Brachydactyly, Narrow mouth, Plagiocephaly, Short ribs, Hypoplastic scapulae, Micromelia, Omphalo... ORPHA:2021
Craniosynostosis 2
Brachydactyly, Craniosynostosis, Cleft soft palate, Triphalangeal thumb, Supernumerary tooth, Fro... OMIM:604757
Achondroplasia
Brachydactyly, Genu varum, Trident hand, Bowing of the legs, Short femoral neck, Limited hip exte... OMIM:100800
Xk Aprosencephaly Syndrome
Narrow mouth, Atrial septal defect, Anal atresia, Polyhydramnios, Ventricular septal defect, Abno... ORPHA:3469
Acrocephalopolydactyly
Brachydactyly, Hepatosplenomegaly, Oxycephaly, Premature closure of fontanelles, Genu recurvatum,... ORPHA:221054
Cooper-Jabs Syndrome
Abnormal hip bone morphology, Missing ribs, Umbilical hernia, Congenital diaphragmatic hernia, Fr... ORPHA:1488
Spondyloepimetaphyseal Dysplasia With Joint Laxity
High palate, Elbow flexion contracture, Abnormality of epiphysis morphology, Radioulnar dislocati... ORPHA:93359
Chromosome 16P12.2-P11.2 Deletion Syndrome, 7.1- To 8.7-Mb
Brachydactyly, Clinodactyly, High palate, Open mouth, Micrognathia, Frontal bossing, Thin upper l... OMIM:613604
Early-Onset Seizures-Distal Limb Anomalies-Facial Dysmorphism-Global Developmental Delay Syndrome
Toe syndactyly, High palate, Long philtrum, Atrial septal defect, Tapered finger, Flat occiput, A... ORPHA:505237
Desbuquois Dysplasia 1
Genu varum, Long philtrum, Broad first metatarsal, Pes planus, Sandal gap, Broad femoral neck, Os... OMIM:251450
Coffin-Siris Syndrome 10
Clinodactyly, Persistence of primary teeth, Ventricular septal defect, Wide mouth OMIM:618506
Peroxisome Biogenesis Disorder 8A (Zellweger)
Epiphyseal stippling, Glossoptosis, Ventricular septal defect OMIM:614876
Cardioacrofacial Dysplasia 2
Brachydactyly, Clubbing, Accessory oral frenulum, Short philtrum, Postaxial foot polydactyly, Con... OMIM:619143
Orofaciodigital Syndrome Type 10
Long philtrum, Mesomelic leg shortening, Micrognathia, Mesomelic arm shortening, Short tibia, Sho... ORPHA:2756
Intellectual Developmental Disorder With Dysmorphic Facies, Seizures, And Distal Limb Anomalies
High palate, Flexion contracture, Long philtrum, Atrial septal defect, Tapered finger, Flat occip... OMIM:617452
Intellectual Developmental Disorder With Speech Delay, Autism, And Dysmorphic Facies
Prominent occiput, Short philtrum, Plagiocephaly, Dolichocephaly, Pes planus, Clinodactyly of the... OMIM:618672
Spondylocamptodactyly
Camptodactyly of finger, Camptodactyly OMIM:600000
Fetal Minoxidil Syndrome
Clinodactyly of the 5th finger, Umbilical hernia, Ventricular septal defect, Micrognathia ORPHA:1918
Hypertrichosis Cubiti
Rhizomelia, Micromelia, Joint hyperflexibility, Delayed skeletal maturation, Abnormality of the e... ORPHA:2220
15Q11Q13 Microduplication Syndrome
Clinodactyly of the 5th finger, Joint hyperflexibility, Finger syndactyly ORPHA:238446
Trigonocephaly With Short Stature And Developmental Delay
Broad alveolar ridges, High palate, Lambdoidal craniosynostosis, Clinodactyly of the 5th finger, ... OMIM:314320
Neurodevelopmental Disorder With Structural Brain Anomalies And Dysmorphic Facies
Clinodactyly, Unilambdoid synostosis, Plagiocephaly, Long philtrum, Micrognathia, Midface retrusi... OMIM:618577
Myhre Syndrome
Clinodactyly, Generalized muscle hypertrophy, Radial deviation of finger, Cone-shaped epiphysis, ... OMIM:139210
Hamamy Syndrome
Clinodactyly, Long philtrum, Tapered finger, Micrognathia, Inguinal hernia, Mitral regurgitation,... OMIM:611174
Acropectoral Syndrome
Preaxial hand polydactyly, Finger syndactyly ORPHA:85203
Catifa Syndrome
Long philtrum, Delayed eruption of teeth, Cleft lip, Inguinal hernia, Increased overbite, Camptod... OMIM:618761
Cranioectodermal Dysplasia
Brachydactyly, Prominent occiput, Craniosynostosis, Finger syndactyly, Dolichocephaly, Rhizomelia... ORPHA:1515
Orofaciodigital Syndrome Vi
Brachydactyly, Clinodactyly, Toe syndactyly, Accessory oral frenulum, Central Y-shaped metacarpal... OMIM:277170
Bardet-Biedl Syndrome 7
Narrow mouth, Clinodactyly, 2-3 toe syndactyly, Polydactyly, Malar flattening, Postaxial polydactyly OMIM:615984
Bardet-Biedl Syndrome 5
Brachydactyly, Syndactyly, Polydactyly OMIM:615983
Tall Stature-Intellectual Disability-Renal Anomalies Syndrome
Abnormal thumb morphology, Long foot, Tibial bowing, Metatarsus adductus, Mitral valve prolapse, ... ORPHA:500095
Cleft Palate, Cardiac Defects, And Mental Retardation
Short 2nd finger, Cleft upper lip, 2-3 toe syndactyly, Cutaneous syndactyly, Atrial septal defect... OMIM:600987
Pelger-Huet Anomaly
Foot dorsiflexor weakness, Short 5th metacarpal, Median cleft palate, Short 4th metacarpal, Upper... OMIM:169400
Disorganization, Mouse, Homolog Of
Multiple lipomas, Cleft upper lip, Hand polydactyly, Sacral lipoma, Limb duplication, Cleft palat... OMIM:223200
Familial Scaphocephaly Syndrome, Mcgillivray Type
Toe syndactyly, High palate, Dolichocephaly, Open bite, Midface retrusion, Mandibular prognathia,... ORPHA:168624
Prader-Willi Habitus, Osteopenia, And Camptodactyly
Osteopenia, Enlarged epiphyses, Osteoporosis, Camptodactyly, Joint contracture of the hand OMIM:264010
Osteosclerosis With Ichthyosis And Fractures
Recurrent fractures, Increased bone mineral density, Tibial bowing, Cortical thickening of long b... OMIM:166740
Bardet-Biedl Syndrome 11
Polydactyly OMIM:615988
Spondylometaphyseal Dysplasia, 'Corner Fracture' Type
Genu varum, Clinodactyly, Vertebral hypoplasia, Abnormal bone ossification, Hypoplastic iliac win... ORPHA:93315
Cranioacrofacial Syndrome
Dupuytren contracture, Ventricular septal defect, Pulmonic stenosis, Abnormal hand morphology OMIM:122850
Robinow Syndrome, Autosomal Dominant 3
Clinodactyly, Long philtrum, Hypoplastic right heart, Syndactyly, Micrognathia, Ventricular septa... OMIM:616894
Apert Syndrome
Bifid uvula, Rhizomelic arm shortening, Cervical C5/C6 vertebrae fusion, Ventricular septal defec... OMIM:101200
Intellectual Developmental Disorder, X-Linked, Syndromic, Armfield Type
Abnormal hand morphology, Midface retrusion, Malar flattening, Small hand, Cleft palate, Short foot OMIM:300261
Heart Defects-Limb Shortening Syndrome
Accelerated skeletal maturation, Abnormal tricuspid valve morphology, Atrial septal defect, Abnor... ORPHA:1354
Joubert Syndrome 18
Joint laxity, Camptodactyly, Ventricular septal defect, Polydactyly OMIM:614815
Chromosome 1P36 Deletion Syndrome, Proximal
Complete atrioventricular canal defect, Clinodactyly, Dilated cardiomyopathy, High palate, Patent... OMIM:619343
14Q24.1Q24.3 Microdeletion Syndrome
Brachydactyly, Long philtrum, Dislocated radial head, Atrial septal defect, Intestinal malrotatio... ORPHA:401935
Hydrolethalus
Bifid uvula, Unilateral cleft lip, Micrognathia, Micromelia, Submucous cleft hard palate, Polyhyd... ORPHA:2189
Carey-Fineman-Ziter Syndrome 1
Pierre-Robin sequence, Plagiocephaly, Flexion contracture, Trismus, Skeletal muscle atrophy, Tape... OMIM:254940
Orofaciodigital Syndrome Viii
High palate, Polydactyly, Short tibia, Cleft palate, Median cleft lip, Syndactyly OMIM:300484
Split-Hand/Foot Malformation 1
Clinodactyly, Hand oligodactyly, Triphalangeal thumb, Broad hallux, Ectrodactyly, Foot oligodacty... OMIM:183600
Lipodystrophy, Generalized, With Mental Retardation, Deafness, Short Stature, And Slender Bones
Slender long bones with narrow diaphyses, Osteopenia, Short femoral neck, Generalized lipodystrop... OMIM:608154
Osteogenesis Imperfecta, Type Viii
Decreased calvarial ossification, Wormian bones, Osteopenia, Recurrent fractures, Multiple prenat... OMIM:610915
19P13.12 Microdeletion Syndrome
Craniosynostosis, Toe clinodactyly, Finger syndactyly, Short palm, Long philtrum, Atrial septal d... ORPHA:254346
Bardet-Biedl Syndrome 12
Polydactyly OMIM:615989
Polydactyly, Postaxial, Type A5
Cutaneous finger syndactyly, Postaxial hand polydactyly, Metacarpal synostosis, Syndactyly OMIM:263450
Alg9-Cdg
Bifid uvula, Long philtrum, Abnormal bone ossification, Micrognathia, Ventricular septal defect, ... ORPHA:79328
Microcephalic Osteodysplastic Primordial Dwarfism, Type I
Prominent occiput, Long foot, 11 pairs of ribs, Micrognathia, Micromelia, Oligohydramnios, Large ... OMIM:210710
Congenital Disorder Of Glycosylation, Type Ie
Short palm, Upper limb undergrowth, Muscular dystrophy, Splenomegaly, Ankle flexion contracture, ... OMIM:608799
Chromosome 2Q37 Deletion Syndrome
Arrhythmia, Short metacarpal, Subvalvular aortic stenosis, Short phalanx of finger, Midface retru... OMIM:600430
Thrombocytopenia-Absent Radius Syndrome
Genu varum, Carpal synostosis, Clinodactyly of the 5th finger, Micrognathia, Patellar dislocation... OMIM:274000
Intellectual Developmental Disorder With Nasal Speech, Dysmorphic Facies, And Variable Skeletal Anomalies
2-3 toe syndactyly, Clinodactyly of the 5th finger, Short 5th finger, Micrognathia, Thin upper li... OMIM:618608
Chromosome 8Q21.11 Deletion Syndrome
Short philtrum, Micrognathia, Camptodactyly, Downturned corners of mouth, Syndactyly OMIM:614230
Epiphyseal Dysplasia, Multiple, 7
Advanced ossification of carpal bones, Genu varum, Short femoral neck, Hypoplasia of the capital ... OMIM:617719
Spondyloepimetaphyseal Dysplasia With Multiple Dislocations
Genu varum, Radial head subluxation, Generalized joint laxity, Fragmented epiphyses, Genu valgum,... ORPHA:93360
Autosomal Dominant Otospondylomegaepiphyseal Dysplasia
Long philtrum, Osteoarthritis, Micrognathia, Malar flattening, Glossoptosis, Abnormal metacarpal ... ORPHA:166100
Spondyloepiphyseal Dysplasia, Kimberley Type
Micromelia, Osteoarthritis, Abnormality of epiphysis morphology ORPHA:93283
Cousin Syndrome
Clinodactyly of the 5th finger, Micrognathia, Hypoplastic iliac wing, Cleft palate, Hypoplastic p... OMIM:260660
Cardiofacioneurodevelopmental Syndrome
Brachydactyly, Clinodactyly of the 5th finger, Pulmonic stenosis, Micrognathia, Cleft lip, Ventri... OMIM:619123
Schaaf-Yang Syndrome
Brachydactyly, Clinodactyly, Flexion contracture, Rocker bottom foot, Open mouth, Tapered finger,... OMIM:615547
Pycnodysostosis
Brachydactyly, Prominent occiput, Wormian bones, Abnormality of pelvic girdle bone morphology, In... OMIM:265800
Short-Rib Thoracic Dysplasia 16 With Or Without Polydactyly
Brachydactyly, Dolichocephaly, Cone-shaped epiphyses of the phalanges of the hand, Sandal gap, Sh... OMIM:617102
Thoc6-Related Developmental Delay-Microcephaly-Facial Dysmorphism Syndrome
Dental malocclusion, Velopharyngeal insufficiency, Atrial septal defect, Abnormality of the denti... ORPHA:363444
Even-Plus Syndrome
High palate, Patent foramen ovale, Atrial septal defect, Dysplasia of the femoral head, Hypodonti... OMIM:616854
Trigonocephaly-Short Stature-Developmental Delay Syndrome
High palate, Metopic suture patent to nasal root, Multiple suture craniosynostosis, Small anterio... ORPHA:3369
Isolated Right Ventricular Hypoplasia
Right atrial enlargement, Clubbing, Patent foramen ovale, Systolic heart murmur, Congestive heart... ORPHA:439
Spondylometaepiphyseal Dysplasia, Short Limb-Hand Type
Micrognathia, Micromelia, Broad long bones, Bowing of the legs, High palate, Short ribs, Short ph... OMIM:271665
Cornelia De Lange Syndrome 4 With Or Without Midline Brain Defects
Brachydactyly, Tetralogy of Fallot, Skull asymmetry, Single transverse palmar crease, 2-3 toe syn... OMIM:614701
Neurodevelopmental Disorder With Spasticity, Hypomyelinating Leukodystrophy, And Brain Abnormalities
Dolichocephaly, Overlapping fingers, Externally rotated hips, Micrognathia, Knee flexion contract... OMIM:616531
Imagawa-Matsumoto Syndrome
Accelerated skeletal maturation, Clinodactyly, Long foot, Anteriorly placed anus, Mandibular prog... OMIM:618786
Acromicric Dysplasia
Narrow mouth, Short palm, Long philtrum, Short metacarpal, Cone-shaped epiphysis, Short phalanx o... OMIM:102370
Arthrogryposis, Distal, Type 5D
Calcaneovalgus deformity, Elbow flexion contracture, Decreased muscle mass, Micrognathia, Adducte... OMIM:615065
Hypophosphatemic Rickets, X-Linked Recessive
Enlargement of the ankles, Bowing of the legs, Bulging epiphyses, Metaphyseal irregularity, Recur... OMIM:300554
Congenital Muscular Dystrophy, Fukuyama Type
Dilated cardiomyopathy, Plagiocephaly, Flexion contracture, Dolichocephaly, Hypoglycosylation of ... ORPHA:272
Charlie M Syndrome
Brachydactyly, Narrow mouth, Short philtrum, Thin vermilion border, Finger syndactyly, Non-midlin... ORPHA:1406
Fibuloulnar Aplasia Or Hypoplasia With Renal Abnormalities
Hypoplasia of the ulna, Micrognathia, Ventricular septal defect, Truncus arteriosus, Neonatal dea... OMIM:228940
Arthrogryposis, Distal, Type 2E
Narrow mouth, Distal arthrogryposis, Joint contractures involving the joints of the feet, Trismus... OMIM:121070
Brachydactyly-Syndactyly Syndrome
Brachydactyly, Finger syndactyly, Oligodactyly, Short phalanx of finger, Short digit, Camptodacty... OMIM:610713
Desbuquois Syndrome
Accelerated skeletal maturation, Coxa valga, Clinodactyly of the 5th finger, Elbow dislocation, R... ORPHA:1425
Al Kaissi Syndrome
Clinodactyly, Long philtrum, Atrial septal defect, Macrodontia, Pes planus, High, narrow palate, ... OMIM:617694
Schinzel-Giedion Midface Retraction Syndrome
Macroglossia, Splenopancreatic fusion, Short 1st metacarpal, Single transverse palmar crease, Sho... OMIM:269150
Syndactyly Type 4
Toe syndactyly, 6 metacarpals, Foot polydactyly, Triphalangeal thumb, Hand polydactyly, 1-5 finge... ORPHA:93405
Larsen-Like Syndrome
Dental malocclusion, Bipartite calcaneus, Clinodactyly of the 5th finger, Joint laxity, Joint dis... OMIM:608545
Short Stature, Rhizomelic, With Microcephaly, Micrognathia, And Developmental Delay
Accelerated skeletal maturation, High palate, Coxa valga, 2-3 toe syndactyly, Rhizomelia, Broad f... OMIM:617164
Cornelia De Lange Syndrome 3 With Or Without Midline Brain Defects
Long philtrum, Clinodactyly of the 5th finger, Microdontia, Micrognathia, Ventricular septal defe... OMIM:610759
Spinocerebellar Ataxia, Autosomal Recessive 20
Brachydactyly, Clinodactyly, High palate, Long philtrum, Delayed eruption of teeth, Macroglossia,... OMIM:616354
Roifman Syndrome
Brachydactyly, Single transverse palmar crease, Long philtrum, Short metacarpal, Clinodactyly of ... OMIM:616651
Chromosome 13Q33-Q34 Deletion Syndrome
Small thenar eminence, Tapered finger, Short thumb, Tented upper lip vermilion, Micrognathia, Lef... OMIM:619148
Split-Foot Deformity With Mandibulofacial Dysostosis
Toe syndactyly, Micrognathia, Malar flattening, Cleft palate, Split hand, Split foot OMIM:183700
Cardiocranial Syndrome, Pfeiffer Type
Slender finger, Small hypothenar eminence, Bifid uvula, Contracture of the proximal interphalange... ORPHA:2872
Cornelia De Lange Syndrome 1
Long philtrum, Clinodactyly of the 5th finger, Widely spaced teeth, Micrognathia, High, narrow pa... OMIM:122470
Congenital Heart Defects, Dysmorphic Facial Features, And Intellectual Developmental Disorder
Narrow mouth, Clinodactyly, Short philtrum, Atrial septal defect, Joint hypermobility, Ventricula... OMIM:617360
Ectodermal Dysplasia Syndrome With Distinctive Facial Appearance And Preaxial Polydactyly Of Feet
Enamel hypoplasia, Clinodactyly of the 5th finger, Preaxial polydactyly, Carious teeth, Micrognat... OMIM:129540
Myopathy, Congenital, Compton-North
High palate, Dolichocephaly, Overlapping fingers, High, narrow palate, Arachnodactyly, Polyhydram... OMIM:612540
Bardet-Biedl Syndrome 8
Brachycephaly, Situs inversus totalis, Polydactyly OMIM:615985
Loeys-Dietz Syndrome 5
Bifid uvula, Pes planus, Increased arm span, Tented upper lip vermilion, Inguinal hernia, Ventric... OMIM:615582
Progressive Pseudorheumatoid Arthropathy Of Childhood
Genu varum, Generalized osteoporosis, Abnormal ilium morphology, Broad femoral neck, Enlarged epi... ORPHA:1159
Carpenter Syndrome
Brachydactyly, Toe syndactyly, Craniosynostosis, Finger syndactyly, Preaxial foot polydactyly, Po... ORPHA:65759
Adams-Oliver Syndrome 5
Brachydactyly, Right atrial enlargement, Patent foramen ovale, Splenomegaly, Pulmonic stenosis, E... OMIM:616028
Faciocardiomelic Dysplasia, Lethal
Narrow mouth, Hypoplasia of the ulna, Single transverse palmar crease, Talipes, Fibular hypoplasi... OMIM:227270
Acromesomelic Dysplasia 2B
Brachydactyly, Deformed tarsal bones, Deviation of finger, Fibular hypoplasia, Rhizomelia, Short ... OMIM:228900
49,Xyyyy Syndrome
Short 5th finger, Generalized joint laxity, Abnormality of the epiphyses of the elbow, Bridged pa... ORPHA:99330
Thiemann Disease
Avascular necrosis, Broad phalanx, Short phalanx of finger OMIM:165700
Diamond-Blackfan Anemia 6
Tetralogy of Fallot, Bifid uvula, Cleft upper lip, Tracheomalacia, Atrial septal defect, Triphala... OMIM:612561
Agenesis Of The Corpus Callosum With Peripheral Neuropathy
High palate, Flexion contracture, 2-3 toe syndactyly, Skeletal muscle atrophy, Tapered finger, Li... OMIM:218000
Silver-Russell Syndrome Due To An Imprinting Defect Of 11P15
High palate, Upper limb asymmetry, Diastasis recti, Delayed closure of the anterior fontanelle, C... ORPHA:231140
Aymé-Gripp Syndrome
Long philtrum, Clinodactyly of the 5th finger, Tapered finger, Inguinal hernia, Thin upper lip ve... ORPHA:1272
Pentasomy X
Plagiocephaly, Clinodactyly of the 5th finger, Micrognathia, Radioulnar synostosis, Small hand, C... ORPHA:11
Robinow Syndrome, Autosomal Dominant 2
Brachydactyly, Clinodactyly, Partial duplication of the phalanx of hand, Long philtrum, Abnormali... OMIM:616331
8P23.1 Duplication Syndrome
Toe syndactyly, Tetralogy of Fallot, Long philtrum, Pulmonic stenosis, Ventricular septal defect,... ORPHA:251076
Microcephalic Osteodysplastic Primordial Dwarfism Type Ii
Brachydactyly, Abnormality of epiphysis morphology, Atrial septal defect, Clinodactyly of the 5th... ORPHA:2637
Timothy Syndrome
Tetralogy of Fallot, Patent foramen ovale, Thin upper lip vermilion, Cutaneous syndactyly, Microd... OMIM:601005
Bardet-Biedl Syndrome 13
Polydactyly OMIM:615990
Syndactyly, Type V
Brachydactyly, 4-5 toe syndactyly, Carpal synostosis, Absent distal interphalangeal creases, 4-5 ... OMIM:186300
Chromosome 15Q11.2 Deletion Syndrome
Slender finger, Plagiocephaly, Abnormal heart morphology, Cleft palate OMIM:615656
Char Syndrome
Prominent occiput, Toe syndactyly, Thick vermilion border, Short philtrum, Clinodactyly of the 5t... ORPHA:46627
Bardet-Biedl Syndrome 6
Syndactyly, Polydactyly OMIM:605231
Ulna And Fibula, Absence Of, With Severe Limb Deficiency
Decreased calvarial ossification, Aplasia/Hypoplasia involving the carpal bones, Aplasia of the u... OMIM:276820
Short Stature-Craniofacial Anomalies-Genital Hypoplasia Syndrome
Ectopic anus, Finger syndactyly, Abnormality of the dentition, Limitation of joint mobility, Trip... ORPHA:2994
Brachymorphism-Onychodysplasia-Dysphalangism Syndrome
Brachydactyly, Biparietal narrowing, Symphalangism affecting the phalanges of the hand, Long phil... ORPHA:1292
Intellectual Disability-Coarse Face-Macrocephaly-Cerebellar Hypotrophy Syndrome
Brachydactyly, Clinodactyly, High palate, Hepatosplenomegaly, Long philtrum, Atrial septal defect... ORPHA:397709
Fetal Trimethadione Syndrome
High palate, Tetralogy of Fallot, Atrial septal defect, Micrognathia, Midface retrusion, Ventricu... ORPHA:1913
Ectodermal Dysplasia-Syndactyly Syndrome 2
Palmoplantar keratoderma, Thin upper lip vermilion, Enamel hypoplasia, Cardiomegaly, Syndactyly OMIM:613576
Desmosterolosis
Narrow mouth, Bifid uvula, Talipes, Increased bone mineral density, Intestinal malrotation, Splen... ORPHA:35107
Mulibrey Nanism
Hypoplastic frontal sinuses, Single transverse palmar crease, Pericardial constriction, Dolichoce... OMIM:253250
Neu-Laxova Syndrome 2
Rocker bottom foot, High palate, Cleft palate, Micrognathia OMIM:616038
Short-Rib Thoracic Dysplasia 14 With Polydactyly
Atrial septal defect, Short ribs, Aplastic clavicle, Preaxial polydactyly, Hydrops fetalis, Conge... OMIM:616546
Intellectual Developmental Disorder, X-Linked, Syndromic, Hackmann-Di Donato Type
Short philtrum, Mitral regurgitation, Atrial septal defect, Open mouth, Joint laxity, Midface ret... OMIM:301039
Temtamy Preaxial Brachydactyly Syndrome
Brachydactyly, Clinodactyly, Carpal synostosis, Plagiocephaly, Short metacarpal, Microdontia, Dee... OMIM:605282
Frontometaphyseal Dysplasia 1
Long phalanx of finger, Increased density of long bone diaphyses, Long foot, Genu valgum, Scapula... OMIM:305620
Tibia, Absence Or Hypoplasia Of, With Polydactyly, Retrocerebellar Arachnoid Cyst, And Other Anomalies
Cleft upper lip, Postaxial foot polydactyly, Agenesis of the diaphragm, Aplasia/Hypoplasia of the... OMIM:601027
Antley-Bixler Syndrome
Narrow mouth, Craniosynostosis, Joint stiffness, Long philtrum, Recurrent fractures, Talipes, Ara... ORPHA:83
Monosomy 5P
High palate, Finger syndactyly, Recurrent fractures, Inguinal hernia, Microretrognathia, Small ha... ORPHA:281
Schwartz-Jampel Syndrome
Long philtrum, Trismus, Pes planus, Everted lower lip vermilion, Osteoporosis, Micrognathia, Prot... ORPHA:800
Congenital Varicella Syndrome
Micromelia, Atypical scarring of skin ORPHA:291
Mohr Syndrome
Clinodactyly of the 5th finger, Agenesis of central incisor, Micrognathia, Bilateral postaxial po... OMIM:252100
Symphalangism, Distal, With Microdontia, Dental Pulp Stones, And Narrowed Zygomatic Arch
Cone-shaped epiphyses of the middle phalanges of the hand, Absent trapezoid bone, Pulp calcificat... OMIM:606895
Schneckenbecken Dysplasia
Brachydactyly, Advanced ossification of carpal bones, Metaphyseal irregularity, Advanced tarsal o... OMIM:269250
Au-Kline Syndrome
High palate, Craniosynostosis, Dolichocephaly, Open mouth, Oligodontia, Deep palmar crease, Deep ... OMIM:616580
Chromosome 6Pter-P24 Deletion Syndrome
Clinodactyly of the 5th finger, Tented upper lip vermilion, Ventricular septal defect, Hip dyspla... OMIM:612582
Wieacker-Wolff Syndrome, Female-Restricted
Achilles tendon contracture, Flexion contracture, Long philtrum, Drooling, Rocker bottom foot, U-... OMIM:301041
Rhizomelic Limb Shortening With Dysmorphic Features
Plagiocephaly, Single transverse palmar crease, Patent foramen ovale, Long philtrum, Rhizomelia, ... OMIM:618821
Multicentric Carpotarsal Osteolysis Syndrome
Wrist pain, Osteopenia, Metatarsal osteolysis, Carpal osteolysis, Metacarpal osteolysis, Bilatera... OMIM:166300
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome
Hernia, Joint laxity, Polydactyly, Ventricular septal defect, Smooth philtrum, Syndactyly OMIM:602501
Crouzon Syndrome-Acanthosis Nigricans Syndrome
Brachydactyly, Abnormal palate morphology, Hypoplasia of the maxilla, Frontal bossing, Malar flat... ORPHA:93262
Crisponi/Cold-Induced Sweating Syndrome 1
Narrow mouth, High palate, Elbow flexion contracture, Short palm, Long philtrum, Trismus, Pes pla... OMIM:272430
Hennekam Syndrome
Lymphangioma, Retrognathia, Ascites, Narrow mouth, Abnormal foot morphology, Pulmonary lymphangie... ORPHA:2136
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 2
Large joint dislocations, Delayed patellar ossification, Long distal phalanx of finger, Genu valg... OMIM:603546
Adams-Oliver Syndrome 4
Atrial septal defect, Umbilical hernia, Ventricular septal defect, Short toe OMIM:615297
Kaposiform Lymphangiomatosis