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Gene: Cyp51 MGI:106040

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

Order Alleles

IMPC Data Collections

No Body Weight Data
No Embryo Imaging Data
No Viability Data

IMPC Phenotype Summary

Significant

Not Significant

Not tested

View all our phenotype data below

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.

Human diseases associated with Cyp51 (0 diseases)
Human diseases predicted to be associated with Cyp51 (2273 diseases)

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	Matching phenotypes	Source
Congenital Absence Of Upper Arm And Forearm With Hand Present	Syndactyly, Cleft palate, Upper limb phocomelia, Abnormal heart morphology, Atypical scarring of ...	ORPHA:294975
Atelosteogenesis, Type Iii	Frontal bossing, Radial bowing, Rhizomelia, Sandal gap, Micrognathia, Elbow dislocation, Tombston...	OMIM:108721
Leri-Weill Dyschondrosteosis	Abnormal femoral neck morphology, Abnormal metatarsal morphology, Limited elbow movement, Abnorma...	OMIM:127300
Pierre Robin Sequence With Facial And Digital Anomalies	Frontal bossing, Tapered finger, Micrognathia, Pierre-Robin sequence, Cleft palate, Glossoptosis,...	OMIM:311895
Multiple Epiphyseal Dysplasia Type 4	Micrognathia, Accelerated skeletal maturation, Abnormal hand morphology, Metaphyseal widening, Fl...	ORPHA:93307
Ulnar Hemimelia	Glenoid fossa hypoplasia, Limited elbow movement, Osteoarthritis, Abnormal calcification of the c...	ORPHA:93320
Heart-Hand Syndrome Type 2	Aplasia/Hypoplasia of the thumb, Abnormal morphology of ulna, Micromelia, Abnormality of the dent...	ORPHA:1350
Léri-Weill Dyschondrosteosis	Micromelia, Abnormal tibia morphology, Abnormal carpal morphology, Abnormal femur morphology, Tib...	ORPHA:240
Langer Mesomelic Dysplasia	Bowing of the long bones, Abnormal morphology of ulna, Micromelia, Aplasia/Hypoplasia of the fibu...	ORPHA:2632
Skeletal Dysplasia, Mild, With Joint Laxity And Advanced Bone Age	Joint dislocation, Single transverse palmar crease, Micromelia, Accelerated skeletal maturation, ...	OMIM:618870
Mesomelic Dysplasia, Nievergelt Type	Finger syndactyly, Abnormal morphology of ulna, Micromelia, Tarsal synostosis, Elbow dislocation,...	ORPHA:2633
Mesomelic Limb Shortening And Bowing	Camptodactyly of finger, Bowing of the legs, Micrognathia, Mesomelic arm shortening, Cleft palate...	OMIM:249710
Catel-Manzke Syndrome	Atrial septal defect, Ventricular septal defect, Camptodactyly of finger, Metatarsus valgus, Micr...	ORPHA:1388
Syndactyly Type 2	Mesoaxial polydactyly, Sandal gap, Camptodactyly of finger, 2-3 toe syndactyly, Symphalangism aff...	ORPHA:93403
Fibular Hemimelia	Bowing of the legs, Structural foot deformity, Tibial bowing, Increased laxity of ankles, Foot ol...	ORPHA:93323
Metaphyseal Dysplasia, Braun-Tinschert Type	Osteopenia, Broad tibial metaphyses, Humerus varus, Tibial bowing, Exostoses of the ulna, Scleros...	ORPHA:85188
Acromesomelic Dysplasia 2C	Hypoplasia of the ulna, Shortening of all middle phalanges of the fingers, Radial bowing, Single ...	OMIM:201250
Mesomelia-Synostoses Syndrome	Micromelia, Micrognathia, High, narrow palate, Abnormal tibia morphology, Abnormal femur morpholo...	ORPHA:2496
Distal Deletion 17Q	Aplasia/Hypoplasia of the thumb, Prominent metopic ridge, Abnormality of the philtrum, Micromelia...	ORPHA:1597
Shox-Related Short Stature	Micrognathia, Madelung deformity, Tibial bowing, Short foot, Genu valgum, Skeletal muscle hypertr...	ORPHA:314795
Microphthalmia With Limb Anomalies	Single transverse palmar crease, 2-3 toe cutaneous syndactyly, Deep philtrum, Tibial bowing, Camp...	OMIM:206920
Otospondylomegaepiphyseal Dysplasia	Enlarged joints, Polyhydramnios, Micrognathia, Osteoarthritis, Abnormal iliac wing morphology, Ti...	ORPHA:1427
Lethal Recessive Chondrodysplasia	Micromelia, Micrognathia, Polyhydramnios, Edema, Accelerated skeletal maturation, Generalized ost...	ORPHA:1423
Polyneuropathy-Intellectual Disability-Acromicria-Premature Menopause Syndrome	Camptodactyly of finger, Micromelia, Ulnar deviation of finger, Furrowed tongue, Abnormal pelvic ...	ORPHA:2928
Hypertelorism And Other Facial Dysmorphism, Brachydactyly, Genital Abnormalities, Mental Retardation, And Recurrent Inflammatory Episodes	Thin upper lip vermilion, Perianal abscess, Pericardial effusion, Small hand, Wide mouth, Broad f...	OMIM:614684
Atelosteogenesis, Type Ii	Sandal gap, Micromelia, Micrognathia, Bifid humerus, Flat acetabular roof, Short greater sciatic ...	OMIM:256050
Beta-Mercaptolactate Cysteine Disulfiduria	Frontal bossing, Sandal gap, Arachnodactyly, Micromelia, Genu valgum, Joint hyperflexibility, Hig...	ORPHA:1035
Ophthalmomandibulomelic Dysplasia	Obtuse angle of mandible, Camptodactyly of finger, Micromelia, Elbow dislocation, Limitation of j...	ORPHA:2741
Synpolydactyly 1	2nd-5th toe middle phalangeal hypoplasia, Finger syndactyly, Broad hallux, Mesoaxial hand polydac...	OMIM:186000
Diastrophic Dysplasia	Joint dislocation, Bowing of the long bones, Increased bone mineral density, Midface retrusion, C...	ORPHA:628
Liebenberg Syndrome	Metaphyseal widening, Elbow flexion contracture, Abnormal carpal morphology, 2-3 finger syndactyl...	OMIM:186550
Boomerang Dysplasia	Omphalocele, Finger syndactyly, Abnormal morphology of the radius, Abnormally ossified vertebrae,...	ORPHA:1263
Pseudoachondroplasia	Limited hip extension, Distal joint laxity, Delayed epiphyseal ossification, Metaphyseal widening...	ORPHA:750
Metaphyseal Acroscyphodysplasia	Joint dislocation, Frontal bossing, Brachydactyly, Cone-shaped metacarpal epiphyses, Bowing of th...	ORPHA:1240
Autosomal Dominant Myopia-Midfacial Retrusion-Sensorineural Hearing Loss-Rhizomelic Dysplasia Syndrome	Frontal bossing, Hypoplastic scapulae, Rhizomelia, Short femur, Dumbbell-shaped long bone, Microm...	ORPHA:440354
Atelosteogenesis Type Ii	Micromelia, Micrognathia, Polyhydramnios, Tracheobronchomalacia, Short phalanx of finger, Broad m...	ORPHA:56304
Craniosynostosis, Herrmann-Opitz Type	Finger syndactyly, Turricephaly, Micromelia, Craniosynostosis, Micrognathia, Split hand, Oligohyd...	ORPHA:2145
Atelosteogenesis, Type I	Polyhydramnios, Micrognathia, Short metatarsal, Tibial bowing, Knee dislocation, Neonatal death, ...	OMIM:108720
Bone Dysplasia, Lethal Holmgren Type	Joint dislocation, Metaphyseal dysplasia, Frontal bossing, Rhizomelia, Talipes, Micromelia, Abnor...	ORPHA:1842
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 1, With Or Without Fractures	Bicuspid aortic valve, Micrognathia, Metaphyseal widening, Delayed proximal femoral epiphyseal os...	OMIM:271640
Short-Rib Thoracic Dysplasia 18 With Polydactyly	Thin upper lip vermilion, Radial bowing, Single transverse palmar crease, Micromelia, Postaxial p...	OMIM:617866
Postaxial Oligodactyly, Tetramelic	Radial bowing, Aplasia of the 5th metacarpal, Single transverse palmar crease, Absent fifth metat...	OMIM:176240
Brachydactyly-Mesomelia-Intellectual Disability-Heart Defects Syndrome	Micrognathia, Abnormal shoulder morphology, Tooth agenesis, Mesomelia, Abnormal mitral valve morp...	ORPHA:1277
Ophthalmomandibulomelic Dysplasia	Radial bowing, Coxa valga, Elbow dislocation, Ulnar deviated club hands, Temporomandibular joint ...	OMIM:164900
Fibular Aplasia Or Hypoplasia, Femoral Bowing And Poly-, Syn-, And Oligodactyly	Congenital hip dislocation, Abnormal finger flexion crease, Aplasia/Hypoplasia of the 5th finger,...	OMIM:228930
Langer Mesomelic Dysplasia	Hypoplasia of the ulna, Radial bowing, Micrognathia, Hypoplasia of the radius, Madelung deformity...	OMIM:249700
Marshall Syndrome	Micrognathia, Absent frontal sinuses, Knee osteoarthritis, Clinodactyly of the 5th finger, Small ...	OMIM:154780
W Syndrome	Hypoplasia of the ulna, Pes planus, Radial bowing, Broad uvula, Elbow dislocation, Metatarsus add...	ORPHA:2804
Chondrodysplasia, Blomstrand Type	Micromelia, Micrognathia, Polyhydramnios, Fetal ascites, Accelerated skeletal maturation, Squared...	OMIM:215045
Spondyloepiphyseal Dysplasia With Congenital Joint Dislocations	Joint dislocation, Arthropathy, Genu recurvatum, Limited hip extension, Flexion contracture, Tibi...	OMIM:143095
Congenital Radioulnar Synostosis	Syndactyly, Abnormal morphology of the radius, Congenital hip dislocation, Abnormal morphology of...	ORPHA:3269
Orofaciodigital Syndrome Vi	Micrognathia, Tibial bowing, Lobulated tongue, High palate, Accessory oral frenulum, Cleft upper ...	OMIM:277170
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly	Omphalocele, Syndactyly, Ventricular septal defect, Micromelia, Postaxial polydactyly, Hypoplasti...	OMIM:617895
Craniosynostosis, Adelaide Type	Hallux valgus, Shortening of all middle phalanges of the fingers, Craniosynostosis, Carpal bone m...	OMIM:600593
Greenberg Dysplasia	Abnormally ossified vertebrae, Rhizomelia, Micromelia, Micrognathia, Lymphedema, Calvarial skull ...	ORPHA:1426
Spondylometaphyseal Dysplasia With Cone-Rod Dystrophy	Short metacarpal, Rhizomelia, Joint stiffness, Metaphyseal widening, Dental malocclusion, Coxa va...	OMIM:608940
Polydactyly, Preaxial Ii	Syndactyly, Duplication of thumb phalanx, Opposable triphalangeal thumb, Preaxial hand polydactyl...	OMIM:174500
Metaphyseal Dysplasia, Spahr Type	Progressive leg bowing, Metaphyseal dysplasia, Bowing of the legs, Metaphyseal sclerosis, Metaphy...	OMIM:250400
Spondyloepimetaphyseal Dysplasia, Irapa Type	Pes planus, Short metacarpal, Micromelia, Osteoarthritis, Abnormal joint morphology, Abnormal car...	ORPHA:93351
Satb2-Associated Syndrome Due To A Chromosomal Rearrangement	Osteopenia, Flat occiput, Dental crowding, Micrognathia, Generalized joint laxity, Tibial bowing,...	ORPHA:251028
Whistling Face Syndrome, Recessive Form	Inguinal hernia, Shoulder flexion contracture, Micrognathia, Narrow mouth, Whistling appearance, ...	OMIM:277720
Chromosome 20Q11-Q12 Deletion Syndrome	Frontal bossing, Brachydactyly, Tarsal osteovalgus, Finger clinodactyly, Short philtrum, Camptoda...	OMIM:614257
Radial Hemimelia	Abnormality of the trapezium, Abnormal thumb morphology, Aplasia of the 1st metacarpal, Aplasia/H...	ORPHA:93321
Odontochondrodysplasia 1	Genu recurvatum, Micromelia, Metaphyseal widening, Short phalanx of finger, Genu varum, Short met...	OMIM:184260
Chondrodysplasia Punctata, Tibia-Metacarpal Type	Midface retrusion, Micromelia, Malar flattening, Epiphyseal stippling, Short long bone, Short 3rd...	OMIM:118651
Robinow Syndrome, Autosomal Recessive 1	Tented upper lip vermilion, Dental crowding, Micrognathia, Short palm, Duplication of the distal ...	OMIM:268310
Metaphyseal Anadysplasia 2	Micromelia, Bowing of the legs, Metaphyseal widening, Short femoral neck, Metaphyseal irregularit...	OMIM:613073
Acrocapitofemoral Dysplasia	Micromelia, Short proximal phalanx of thumb, Coxa vara, Hypoplastic iliac wing, Short palm, Short...	OMIM:607778
Kniest Dysplasia	Enlarged joints, Delayed epiphyseal ossification, Coxa vara, Tibial bowing, Genu varum, Rhizomeli...	OMIM:156550
Microphthalmia With Limb Anomalies	Micrognathia, Hypoplasia of the maxilla, Tibial bowing, Camptodactyly of 2nd-5th fingers, Foot ol...	ORPHA:1106
Growth Delay-Hydrocephaly-Lung Hypoplasia Syndrome	Omphalocele, Bowing of the long bones, Radial bowing, Abnormally ossified vertebrae, Intestinal m...	ORPHA:3035
Contractural Arachnodactyly, Congenital	Osteopenia, Bicuspid aortic valve, Micrognathia, Brachycephaly, Knee flexion contracture, High pa...	OMIM:121050
Autosomal Recessive Omodysplasia	Abnormal morphology of the radius, Frontal bossing, Rhizomelia, Pterygium, Micromelia, Craniosyno...	ORPHA:93329
Skeletal Dysplasia With Delayed Epiphyseal And Carpal Bone Ossification	Delayed epiphyseal ossification, Cone-shaped epiphysis, Short middle phalanx of finger, Delayed o...	OMIM:182255
Hypochondroplasia	Bowing of the long bones, Brachydactyly, Micromelia, Short toe, Abnormality of the elbow, Osteoar...	ORPHA:429
Spondylometaphyseal Dysplasia, Kozlowski Type	Short tubular bones of the hand, Delayed epiphyseal ossification, Metaphyseal widening, Short met...	ORPHA:93314
Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly	Short lingual frenulum, Micromelia, Hydrops fetalis, Fused teeth, High palate, Microdontia, Synda...	OMIM:614091
Platyspondylic Lethal Skeletal Dysplasia, Torrance Type	Radial bowing, Rhizomelia, Dumbbell-shaped long bone, Micromelia, Hypoplastic ilia, Hypoplastic i...	OMIM:151210
Fibular Aplasia-Complex Brachydactyly Syndrome	Abnormal morphology of the radius, Brachydactyly, Tarsal synostosis, Micromelia, Aplasia/Hypoplas...	ORPHA:2639
Spondyloepimetaphyseal Dysplasia, Missouri Type	Radial bowing, Rhizomelia, Ulnar bowing, Osteoarthritis, Flared metaphysis, Delayed skeletal matu...	OMIM:602111
20Q11.2 Microdeletion Syndrome	Frontal bossing, Brachydactyly, Talipes calcaneovalgus, Finger clinodactyly, Short philtrum, Camp...	ORPHA:444051
C Syndrome	Micromelia, Micrognathia, Clinodactyly, High palate, Dislocated radial head, Short metacarpal, Ac...	OMIM:211750
Arthrogryposis, Distal, Type 2B2	Ulnar deviation of the wrist, Broad hallux, Sandal gap, Tapered finger, Metatarsus adductus, Narr...	OMIM:618435
Cornelia De Lange Syndrome 2	Thin upper lip vermilion, Proximal placement of thumb, Limited elbow movement, Micrognathia, Smal...	OMIM:300590
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type	Frontal bossing, Iliac crest serration, Micromelia, Cardiomegaly, Wide distal femoral metaphysis,...	OMIM:613320
Crossed Polysyndactyly	Finger syndactyly, Aplasia/Hypoplasia of the thumb, Abnormality of the philtrum, Postaxial hand p...	ORPHA:2935
Stuve-Wiedemann Syndrome 1	Enlarged joints, Single transverse palmar crease, Micrognathia, Tibial bowing, Femoral bowing, Kn...	OMIM:601559
Robin Sequence-Oligodactyly Syndrome	Abnormal morphology of ulna, Abnormality of the dentition, Micrognathia, Hand oligodactyly, Cleft...	ORPHA:3104
Platyspondylic Dysplasia, Torrance Type	Bowing of the long bones, Hypoplastic scapulae, Micromelia, Polyhydramnios, Abnormal carpal morph...	ORPHA:85166
Dyssegmental Dysplasia, Rolland-Desbuquois Type	Bowing of the long bones, Broad long bones, Micromelia, Micrognathia, Equinovarus deformity, Meta...	OMIM:224400
Odontochondrodysplasia	Delayed eruption of teeth, Frontal bossing, Bowing of the long bones, Micromelia, Coxa valga, Con...	ORPHA:166272
Schwartz-Jampel Syndrome, Type 1	Skeletal muscle atrophy, Congenital hip dislocation, Micromelia, Bowing of the legs, Micrognathia...	OMIM:255800
Ehlers-Danlos Syndrome, Musculocontractural Type, 2	Joint laxity, Frontal bossing, Persistent open anterior fontanelle, Inguinal hernia, Arachnodacty...	OMIM:615539
Pallister-Hall-Like Syndrome	Toe syndactyly, Median cleft lip, Micromelia, Micrognathia, Postaxial hand polydactyly, Hip dislo...	OMIM:241800
Acromesomelic Dysplasia 4	Mandibular prognathia, Accelerated skeletal maturation, Short metatarsal, Short phalanx of finger...	OMIM:619636
Femur-Fibula-Ulna Complex	Short humerus, Finger syndactyly, Abnormal morphology of ulna, Micromelia, Humeroradial synostosi...	ORPHA:2019
Polydactyly, Postaxial, Type A1	Syndactyly, Preaxial hand polydactyly, Postaxial hand polydactyly, Postaxial foot polydactyly, Tr...	OMIM:174200
Camptosynpolydactyly, Complex	Syndactyly, Polydactyly, Camptodactyly, Cutaneous syndactyly	OMIM:607539
Neurodevelopmental Disorder With Short Stature, Prominent Forehead, And Feeding Difficulties	Pes planus, Rocker bottom foot, Polyhydramnios, Tapered finger, Carious teeth, Pericardial effusi...	OMIM:620070
Dyggve-Melchior-Clausen Disease	Mandibular prognathia, Metaphyseal widening, Flat glenoid fossa, Short metatarsal, Tibial bowing,...	OMIM:223800
Spondyloepimetaphyseal Dysplasia, Missouri Type	Knee osteoarthritis, Flared metaphysis, Flattened epiphysis, Tibial bowing, Femoral bowing, Small...	ORPHA:93356
Intellectual Developmental Disorder With Short Stature And Variable Skeletal Anomalies	Overlapping toe, Short thumb, Camptodactyly, Clinodactyly of the 5th finger, Arrhythmia	OMIM:618453
Metatropic Dysplasia	Camptodactyly of finger, Micromelia, Abnormal enchondral ossification, Joint stiffness, Cleft pal...	ORPHA:2635
Kyphomelic Dysplasia	Bowing of the long bones, Micromelia, Missing ribs, Micrognathia, Joint stiffness, Limitation of ...	ORPHA:1801
Fetal Akinesia Deformation Sequence 4	11 pairs of ribs, Skeletal muscle atrophy, Rocker bottom foot, Polyhydramnios, Micrognathia, High...	OMIM:618393
Cantu Syndrome	Broad hallux, Bicuspid aortic valve, Short hallux, Coxa valga, Cardiomegaly, Pericardial effusion...	OMIM:239850
Weismann-Netter Syndrome	Anterior tibial bowing, Squared iliac bones, Lateral femoral bowing, Fibular bowing, Delayed erup...	OMIM:112350
Weismann-Netter Syndrome	Bowing of the long bones, Abnormal morphology of ulna, Abnormality of the humerus, Abnormal tibia...	ORPHA:3344
Arthrogryposis, Distal, Type 1C	Knee flexion contracture, High palate, Clinodactyly of the 5th finger, Camptodactyly of toe, Wris...	OMIM:619110
Microcephalic Osteodysplastic Primordial Dwarfism, Type Ii	Distal symphalangism, Coxa vara, Tibial bowing, Hypoplastic iliac wing, Clinodactyly of the 5th f...	OMIM:210720
Uruguay Faciocardiomusculoskeletal Syndrome	Congenital hip dislocation, Limited elbow movement, Cardiomegaly, Camptodactyly of toe, Hyperplas...	OMIM:300280
Bryant-Li-Bhoj Neurodevelopmental Syndrome 2	Mandibular prognathia, Bicuspid aortic valve, Brachycephaly, Atrial septal defect, Clinodactyly o...	OMIM:619721
Arthrogryposis, Distal, Type 1B	Foot joint contracture, Rocker bottom foot, Distal arthrogryposis, Talipes equinovarus, Camptodac...	OMIM:614335
Acrodysostosis	Delayed eruption of teeth, Hypoplasia of the ulna, Short metacarpal, Abnormal morphology of the r...	ORPHA:950
Achondrogenesis Type 1A	Short palm, Frontal bossing, Femoral hernia, Recurrent fractures, Micromelia, Micrognathia, Polyh...	ORPHA:93299
Terminal Osseous Dysplasia-Pigmentary Defects Syndrome	Syndactyly, Accessory oral frenulum, Osteolysis involving bones of the upper limbs, Flexion contr...	ORPHA:88630
Thanatophoric Dysplasia	Atrial septal defect, Frontal bossing, Cloverleaf skull, Micromelia, Polyhydramnios, Joint stiffn...	ORPHA:2655
Joubert Syndrome 18	Joint laxity, Bowing of the long bones, Trident pelvis, Ventricular septal defect, Postaxial poly...	OMIM:614815
Acrofrontofacionasal Dysostosis	Camptodactyly of finger, Micromelia, Non-midline cleft lip, Brachycephaly, Cleft palate, High pal...	ORPHA:1784
Carpenter Syndrome 1	Duplication of the proximal phalanx of the hallux, Micrognathia, Hypoplasia of the maxilla, Brach...	OMIM:201000
Blount Disease	Abnormality of the knee, Tibial bowing, Abnormal tibial metaphysis morphology, Abnormality of the...	ORPHA:2768
Dyssegmental Dysplasia, Silverman-Handmaker Type	Broad long bones, Micromelia, Bowing of the legs, Hypoplastic ilia, Micrognathia, Flexion contrac...	ORPHA:1865
Intellectual Disability-Spasticity-Ectrodactyly Syndrome	Finger syndactyly, Abnormality of the upper limb, Abnormal hip bone morphology, Clinodactyly of t...	ORPHA:1891
Wahab Syndrome	Syndactyly, Short metacarpal, Short thumb, Ankylosis, Short foot, Short palm, Clinodactyly, Campt...	OMIM:615170
Endocrine-Cerebroosteodysplasia	Single transverse palmar crease, Micromelia, Micrognathia, Polyhydramnios, Preaxial polydactyly, ...	OMIM:612651
Phocomelia, Schinzel Type	Micromelia, Micrognathia, High, narrow palate, Abnormal tibia morphology, Hydrops fetalis, Foot o...	ORPHA:2879
Ulnar Hypoplasia	Hypoplasia of the ulna, Radial bowing, Ulnar deviation of the hand, Hypoplasia of the radius, Mes...	OMIM:191440
Ectodermal Dysplasia, Ectrodactyly, And Macular Dystrophy Syndrome	2-4 finger syndactyly, Selective tooth agenesis, 1-4 finger syndactyly, Split hand, 2-3 finger sy...	OMIM:225280
Acromesomelic Dysplasia, Grebe Type	Aplasia/Hypoplasia of the thumb, Bowing of the long bones, Brachydactyly, Tarsal synostosis, Micr...	ORPHA:2098
Ruvalcaba Syndrome	Short metacarpal, Inguinal hernia, Dental crowding, Micromelia, Limited elbow extension, Short me...	OMIM:180870
Kyphomelic Dysplasia	Short humerus, Short metacarpal, Radial bowing, Short femur, Bowed humerus, Micromelia, Cleft upp...	OMIM:211350
Recombinant Chromosome 8 Syndrome	Thin upper lip vermilion, Atrial septal defect, Ventricular septal defect, Abnormality of the den...	OMIM:179613
Achondroplasia	Frontal bossing, Brachydactyly, Radial bowing, Rhizomelia, Short femur, Polyhydramnios, Bowing of...	OMIM:100800
Aminopterin Syndrome Sine Aminopterin	Syndactyly, Inguinal hernia, Rudimentary postaxial polydactyly of hands, Arachnodactyly, Frontal ...	OMIM:600325
Brachydactyly, Type B1	Type B brachydactyly, Syndactyly, Vertebral fusion, Hypoplastic sacrum, Ventricular septal defect...	OMIM:113000
Lujan-Fryns Syndrome	Dental crowding, Arachnodactyly, Camptodactyly of finger, Abnormality of the dentition, Micrognat...	ORPHA:776
Vitamin D-Dependent Rickets, Type 2A	Delayed eruption of teeth, Frontal bossing, Bulging epiphyses, Enlargement of the ankles, Flat oc...	OMIM:277440
Pierre Robin Syndrome	Micrognathia, Pierre-Robin sequence, Cor pulmonale, Cleft palate, Glossoptosis	OMIM:261800
Otopalatodigital Syndrome, Type I	Abnormality of the fifth metatarsal bone, Selective tooth agenesis, Absent frontal sinuses, Femor...	OMIM:311300
Feingold Syndrome Type 2	Toe syndactyly, Jejunal atresia, Ventricular septal defect, Short thumb, Short middle phalanx of ...	ORPHA:391646
3P25.3 Microdeletion Syndrome	Mandibular prognathia, Skeletal muscle atrophy, Proximal placement of thumb, Micrognathia, High, ...	ORPHA:435638
Achondrogenesis Type 1B	Frontal bossing, Femoral hernia, Micromelia, Micrognathia, Polyhydramnios, Abnormal enchondral os...	ORPHA:93298
Hennekam Lymphangiectasia-Lymphedema Syndrome 1	Lymphedema, Periorbital edema, Rectal prolapse, Conical incisor, Oligodontia, Cutaneous finger sy...	OMIM:235510
Ulna Hypoplasia-Intellectual Disability Syndrome	Hypoplasia of the ulna, Broad hallux phalanx, Talipes, Micromelia, Joint stiffness, Metatarsus ad...	ORPHA:2249
Syndactyly, Type Iii	Absent middle phalanx of 5th finger, Syndactyly, 4-5 finger syndactyly, Short 5th finger	OMIM:186100
Muenke Syndrome	Broad hallux, Capitate-hamate fusion, Dental malocclusion, Brachycephaly, Cone-shaped epiphyses o...	OMIM:602849
Acrocapitofemoral Dysplasia	Cone-shaped metacarpal epiphyses, Abnormal femoral neck morphology, Micromelia, Delayed skeletal ...	ORPHA:63446
Cenani-Lenz Syndrome	Hypoplasia of the ulna, Finger syndactyly, Toe syndactyly, Frontal bossing, Abnormal dental ename...	ORPHA:3258
Radioulnar Synostosis-Microcephaly-Scoliosis Syndrome	Finger syndactyly, Abnormality of the philtrum, Abnormality of the dentition, Delayed skeletal ma...	ORPHA:3268
Symphalangism With Multiple Anomalies Of Hands And Feet	Finger syndactyly, Small hypothenar eminence, Toe syndactyly, 2-5 finger cutaneous syndactyly, Ab...	ORPHA:3246
Rhizomelic Skeletal Dysplasia With Or Without Pelger-Huet Anomaly	Joint dislocation, Femoral bowing, Knee flexion contracture, Short 5th metacarpal, Radial bowing,...	OMIM:618019
Metaphyseal Chondrodysplasia, Schmid Type	Broad femoral neck, Distal tibial bowing, Metaphyseal chondrodysplasia, Metaphyseal widening, Met...	OMIM:156500
Feingold Syndrome 2	Ventricular septal defect, Short middle phalanx of the 2nd finger, Short thumb, 2-3 toe syndactyl...	OMIM:614326
Vitamin D Hydroxylation-Deficient Rickets, Type 1A	Delayed eruption of teeth, Frontal bossing, Bulging epiphyses, Enlargement of the ankles, Flat oc...	OMIM:264700
Hypophosphatemic Rickets, X-Linked Dominant	Shortening of the talar neck, Frontal bossing, Osteomalacia, Bowing of the legs, Osteoarthritis, ...	OMIM:307800
Multiple Synostoses Syndrome 3	Broad hallux, Limited interphalangeal movement, Hallux varus, Humeroradial synostosis, Cleft pala...	OMIM:612961
Microcephaly, Facial Dysmorphism, Renal Agenesis, And Ambiguous Genitalia Syndrome	Overlapping toe, Hypoplastic right heart, Postaxial polydactyly, Ventricular septal defect, Micro...	OMIM:618142
Phocomelia-Ectrodactyly, Ear Malformation, Deafness, And Sinus Arrhythmia	Aplasia/Hypoplasia of the thumb, Short humerus, Midface retrusion, Elbow dislocation, Absent radi...	OMIM:171480
Dysostosis, Stanescu Type	Bowing of the long bones, Persistent open anterior fontanelle, Wormian bones, Abnormal dental ena...	ORPHA:1798
Microbrachycephaly-Ptosis-Cleft Lip Syndrome	Mandibular prognathia, Brachydactyly, Flat occiput, Abnormal thumb morphology, Abnormal metacarpa...	ORPHA:2511
Aminopterin/Methotrexate Embryofetopathy	Mandibular prognathia, Aplasia/Hypoplasia of the thumb, Finger syndactyly, Ventricular septal def...	ORPHA:1908
Achondrogenesis Type 2	Delayed vertebral ossification, Absent vertebral body mineralization, Micromelia, Edema, Hypoplas...	ORPHA:93296
Thanatophoric Dysplasia, Type Ii	Frontal bossing, Cloverleaf skull, Small abnormally formed scapulae, Micromelia, Polyhydramnios, ...	OMIM:187601
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type	Osteopenia, Polyhydramnios, Cardiomegaly, Micrognathia, Multiple prenatal fractures, Flexion cont...	OMIM:616897
German Syndrome	Camptodactyly of finger, Micrognathia, Lymphedema, Limitation of joint mobility, Brachycephaly, O...	ORPHA:2077
Arthrogryposis Multiplex Congenita 1, Neurogenic, With Myelin Defect	Hip contracture, Scapular winging, Internally rotated shoulders, Dental crowding, Ankle flexion c...	OMIM:617468
Arthrogryposis, Perthes Disease, And Upward Gaze Palsy	Overlapping toe, Ventricular septal defect, Avascular necrosis of the capital femoral epiphysis, ...	OMIM:614262
Osteogenesis Imperfecta, Type Iii	Frontal bossing, Protrusio acetabuli, Recurrent fractures, Micrognathia, Multiple prenatal fractu...	OMIM:259420
Syndactyly Type 1	Finger syndactyly, Toe syndactyly, Symphalangism affecting the phalanges of the hand	ORPHA:93402
Cartilage-Hair Hypoplasia	Micromelia, Accelerated skeletal maturation, Heart block, Metaphyseal chondrodysplasia, Brachycep...	ORPHA:175
Alkuraya-Kucinskas Syndrome	Overlapping toe, Edema, Micrognathia, Pericardial effusion, Abnormal foot morphology, Cutaneous s...	OMIM:617822
Achondrogenesis	Frontal bossing, Inguinal hernia, Polyhydramnios, Micrognathia, Micromelia, Abnormal enchondral o...	ORPHA:932
Mesomelia-Synostoses Syndrome	Microretrognathia, Ulnar deviation of the hand, Progressive forearm bowing, Micromelia, Micrognat...	OMIM:600383
Acromesomelic Dysplasia 1	Joint laxity, Frontal bossing, Short metacarpal, Radial bowing, Broad metatarsal, Short toe, Hypo...	OMIM:602875
Vitamin D-Dependent Rickets, Type 2B, With Normal Vitamin D Receptor	Bulging epiphyses, Bowing of the long bones, Rickets of the lower limbs, Delayed epiphyseal ossif...	OMIM:600785
Arthrogryposis, Distal, Type 1A	Congenital hip dislocation, Single transverse palmar crease, Calcaneovalgus deformity, Knee flexi...	OMIM:108120
Glass Syndrome	Dental crowding, Anterior tibial bowing, Conical tooth, Micrognathia, Oligodontia, High palate, A...	OMIM:612313
Jeune Syndrome	Toe syndactyly, Micromelia, Postaxial hand polydactyly, Postaxial foot polydactyly, Cone-shaped e...	ORPHA:474
Keipert Syndrome	Joint laxity, Midface retrusion, Broad hallux, Exaggerated cupid's bow, Downturned corners of mou...	OMIM:301026
Arthrogryposis, Distal, Type 7	Micrognathia, Metatarsus adductus, Trismus, Deep philtrum, Hip dislocation, Cutaneous syndactyly ...	OMIM:158300
Mesomelic Dwarfism, Reinhardt-Pfeiffer Type	Hypoplasia of the ulna, Abnormal morphology of ulna, Micromelia, Elbow dislocation, Abnormal tibi...	ORPHA:2634
Meckel Syndrome, Type 8	Cleft upper lip, Pericardial effusion, Cleft palate, Polydactyly, Talipes equinovarus	OMIM:613885
Congenital Disorder Of Glycosylation, Type Il	Frontal bossing, Edema, Pericardial effusion, Delayed skeletal maturation, Hip dislocation, Brach...	OMIM:608776
Gordon Syndrome	Finger syndactyly, Decreased muscle mass, Camptodactyly of finger, Talipes, Limitation of joint m...	ORPHA:376
Vitamin D Hydroxylation-Deficient Rickets, Type 1B	Frontal bossing, Bulging epiphyses, Enlargement of the ankles, Flat occiput, Recurrent fractures,...	OMIM:600081
Congenital Insensitivity To Pain With Severe Intellectual Disability	Osteomyelitis, Rocker bottom foot, Recurrent fractures, Micrognathia, Talipes equinovalgus, Tibia...	ORPHA:453510
Triphalangeal Thumb, Nonopposable	Polydactyly, Triphalangeal thumb	OMIM:190600
Congenital Heart Defects And Ectodermal Dysplasia	Frontal bossing, Premature loss of primary teeth, 2-3 toe cutaneous syndactyly, Brachycephaly, De...	OMIM:617364
Ritscher-Schinzel Syndrome 1	Syndactyly, Ventricular septal defect, Micrognathia, Missing ribs, Double outlet right ventricle,...	OMIM:220210
Mmep Syndrome	Mandibular prognathia, Median cleft lip, Ventricular septal defect, Orofacial cleft, Split foot, ...	ORPHA:3434
Congenital Osteogenesis Imperfecta-Microcephaly-Cataracts Syndrome	Ventricular septal defect, Recurrent fractures, Micromelia, Joint hyperflexibility, Decreased cal...	ORPHA:2772
Triphalangeal Thumb With Polysyndactyly	Finger syndactyly, Preaxial hand polydactyly, Postaxial hand polydactyly, Triphalangeal thumb, Br...	OMIM:190605
Dyschondrosteosis-Nephritis Syndrome	Radial bowing, Micromelia, Ulnar bowing, Madelung deformity, Aplasia/Hypoplasia of the radius, Mi...	ORPHA:1765
Cataract-Intellectual Disability-Hypogonadism Syndrome	Abnormal distal phalanx morphology of finger, Abnormality of the hand, Micrognathia, Brachycephal...	ORPHA:1387
Craniofrontonasal Dysplasia	Finger syndactyly, Broad hallux phalanx, Frontal bossing, Sandal gap, Camptodactyly of finger, Do...	ORPHA:1520
2Q32Q33 Microdeletion Syndrome	Broad hallux phalanx, Arachnodactyly, Dental crowding, Micrognathia, Narrow mouth, Brachycephaly,...	ORPHA:251019
Lethal Congenital Contracture Syndrome 11	Microretrognathia, Polyhydramnios, Flexion contracture, Elbow flexion contracture, Retrognathia, ...	OMIM:617194
Corpus Callosum, Agenesis Of	Frontal bossing, Joint contracture of the hand, Camptodactyly	OMIM:217990
Eng-Strom Syndrome	Ventricular septal defect, Camptodactyly of finger, Arthritis, Abnormal cardiac septum morphology...	ORPHA:1937
Mosaic Trisomy 9	Micromelia, Micrognathia, Asplenia, Polyhydramnios, Hydrops fetalis, Finger clinodactyly, High pa...	ORPHA:99776
Thanatophoric Dysplasia Type 2	Frontal bossing, Cloverleaf skull, Polyhydramnios, Micromelia, Increased nuchal translucency, Lim...	ORPHA:93274
Leri-Weill dyschondrostosis (LWD) - SHOX deletion	Radial bowing, Madelung deformity, Limited pronation/supination of forearm	DECIPHER:58
Thanatophoric Dysplasia Type 1	Frontal bossing, Bowing of the long bones, Short femur, Cloverleaf skull, Micromelia, Polyhydramn...	ORPHA:1860
Hallux Varus And Preaxial Polysyndactyly	Preaxial hand polydactyly, Syndactyly, Broad hallux, Hallux varus	OMIM:234280
Osteogenesis Imperfecta, Type Ii	Crumpled long bones, Broad long bones, Wormian bones, Nonimmune hydrops fetalis, Recurrent fractu...	OMIM:166210
Severe Intellectual Disability-Epilepsy-Anal Anomalies-Distal Phalangeal Hypoplasia	Mandibular prognathia, Ventricular septal defect, Aplasia/Hypoplasia of the distal phalanges of t...	ORPHA:94066
Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency	Mandibular prognathia, Syndactyly, Ventricular septal defect, Abnormality of the hand, Abnormal f...	ORPHA:369891
Juberg-Hayward Syndrome	Aplasia/Hypoplasia of the thumb, Cleft upper lip, Abnormal toe morphology, Abnormal carpal morpho...	OMIM:216100
Premature Aging Syndrome, Penttinen Type	Hyperextensibility of the knee, Micrognathia, Hypoplasia of the maxilla, Palmoplantar hyperkerato...	OMIM:601812
Otopalatodigital Syndrome, Type Ii	Congenital hip dislocation, Elbow contracture, Micrognathia, Short metatarsal, Tibial bowing, Fem...	OMIM:304120
Blount Disease, Adolescent	Genu varum, Osteochondritis dissecans, Bowing of the legs	OMIM:259200
Melnick-Needles Syndrome	Obtuse angle of mandible, Micrognathia, Tibial bowing, Cone-shaped epiphyses of the phalanges of ...	OMIM:309350
Holt-Oram Syndrome	Syndactyly, Hypoplasia of the ulna, Short humerus, Ventricular septal defect, Aplasia of the ulna...	OMIM:142900
Craniofaciofrontodigital Syndrome	Osteopenia, Bicuspid aortic valve, Edema, Cardiomegaly, Polyhydramnios, Finger joint hypermobilit...	ORPHA:363705
14Q11.2 Microdeletion Syndrome	Toe syndactyly, Exaggerated cupid's bow, Ventricular septal defect, Micrognathia, Narrow mouth, D...	ORPHA:261120
Müllerian Duct Anomalies-Limb Anomalies Syndrome	Short humerus, Micromelia, Postaxial hand polydactyly, Split hand, Abnormality of the elbow, Apla...	ORPHA:2491
Spondylometaphyseal Dysplasia, A4 Type	Short palm, Limitation of joint mobility, Micromelia, Coxa vara	ORPHA:168555
Grant Syndrome	Wormian bones, Micrognathia, Down-sloping shoulders, Tibial bowing	OMIM:138930
Mesomelic Dysplasia, Kantaputra Type	Carpal synostosis, Radial bowing, Tarsal synostosis, Mesomelia	OMIM:156232
Pseudodiastrophic Dysplasia	Frontal bossing, Rhizomelia, Phalangeal dislocation, Micrognathia, Elbow dislocation, Hypoplasia ...	OMIM:264180
Campomelic Dysplasia	Irregular dentition, Anterior tibial bowing, Polyhydramnios, Micrognathia, Delayed epiphyseal oss...	OMIM:114290
Pierre Robin Syndrome And Oligodactyly	Pierre-Robin sequence, Hand oligodactyly, Cleft palate, Micrognathia	OMIM:172880
Acromesomelic Dysplasia, Hunter-Thompson Type	Short metacarpal, Brachydactyly, Tarsal synostosis, Cuboidal metacarpal, Joint stiffness, Elbow d...	ORPHA:968
4Q21 Microdeletion Syndrome	Frontal bossing, Toe syndactyly, Micromelia, Abnormality of the dentition, Small hand, Short foot...	ORPHA:238750
Frontonasal Dysplasia 1	Frontal cutaneous lipoma, Pericallosal lipoma, Median cleft lip, Hypoplasia of the maxilla, Posta...	OMIM:136760
Antley-Bixler Syndrome Without Genital Anomalies Or Disordered Steroidogenesis	Frontal bossing, Arachnodactyly, Rocker bottom foot, Ulnar bowing, Humeroradial synostosis, Flexi...	OMIM:207410
Microcephaly-Micromelia Syndrome	Micromelia, Absent thumb, Absent radius, Craniosynostosis, Micrognathia, Humeroradial synostosis,...	OMIM:251230
Non-Syndromic Bicoronal Craniosynostosis	Metacarpal synostosis, Midface retrusion, Brachycephaly, Brachydactyly	ORPHA:35099
Epiphyseal Dysplasia, Multiple, 2	Epiphyseal dysplasia, Midface retrusion, Frontal bossing, Tibial torsion, Knee osteoarthritis, Fl...	OMIM:600204
3M Syndrome	Congenital hip dislocation, Micromelia, Clinodactyly of the 5th finger, Long philtrum, Hypoplasia...	ORPHA:2616
Robinow Syndrome, Autosomal Recessive 2	Ventral hernia, Omphalocele, Midface retrusion, Frontal bossing, Broad hallux, Sandal gap, Cleft ...	OMIM:618529
Thrombocytopenia-Absent Radius Syndrome	Edema of the dorsum of feet, Micrognathia, Edema of the dorsum of hands, Brachycephaly, Femoral b...	OMIM:274000
Syndactyly, Type Iv	1-5 finger syndactyly, Postaxial polydactyly, 6 metacarpals, 2-3 toe syndactyly, Supernumerary me...	OMIM:186200
Upper Limb Mesomelic Dysplasia	Hypoplasia of the ulna, Radial bowing, Ulnar deviation of finger	ORPHA:2497
Multicentric Osteolysis, Nodulosis, And Arthropathy	Osteopenia, Micrognathia, Hypoplasia of the maxilla, Metaphyseal widening, Brachycephaly, Metatar...	OMIM:259600
Ellis Van Creveld Syndrome	Abnormal oral mucosa morphology, Micromelia, Conical incisor, Atrial septal defect, Microdontia, ...	ORPHA:289
Intellectual Developmental Disorder, Autosomal Recessive 33	Syndactyly, Short toe	OMIM:614341
Cardioacrofacial Dysplasia 1	Accessory oral frenulum, Conical tooth, Postaxial polydactyly, Diastema, Complete atrioventricula...	OMIM:619142
Potocki-Shaffer Syndrome	2-5 finger cutaneous syndactyly, Turricephaly, Single transverse palmar crease, Parietal foramina...	OMIM:601224
Hypogonadism With Low-Grade Mental Deficiency And Microcephaly	2-4 toe syndactyly, Syndactyly	OMIM:241000
Mesomelic Dwarfism-Cleft Palate-Camptodactyly Syndrome	Bowing of the long bones, Camptodactyly of finger, Elbow dislocation, Cleft palate, Mesomelia, Th...	ORPHA:2631
Isolated Congenital Hypoglossia/Aglossia	Micrognathia, Temporomandibular joint ankylosis, Aplasia/Hypoplasia of fingers, Cleft palate, Mic...	ORPHA:141152
Microcephaly-Cardiomyopathy Syndrome	Ventricular septal defect, Sandal gap, High, narrow palate, Dilated cardiomyopathy, Clinodactyly ...	ORPHA:2515
8Q12 Microduplication Syndrome	Ventricular septal defect, Narrow mouth, Brachycephaly, Short foot, Everted lower lip vermilion, ...	ORPHA:228399
Spinal Muscular Atrophy With Mental Retardation	Syndactyly, Spinal muscular atrophy	OMIM:271109
Short Stature, Amelogenesis Imperfecta, And Skeletal Dysplasia With Scoliosis	Mandibular prognathia, Micrognathia, Accelerated skeletal maturation, Knee dislocation, High pala...	OMIM:618363
Radial Hypoplasia-Triphalangeal Thumbs-Hypospadias-Maxillary Diastema Syndrome	Mandibular prognathia, Hypoplasia of the radius, Nonopposable triphalangeal thumb, Micromelia	ORPHA:2252
Mesoaxial Hexadactyly And Cardiac Malformation	Torticollis, Ventricular septal defect, Hand polydactyly, Everted lower lip vermilion, Pulmonic s...	OMIM:249670
Pierpont Syndrome	Prominent subcalcaneal fat pad, Short toe, Deep plantar creases, Broad palm, Brachycephaly, Short...	OMIM:602342
Syndactyly Type 3	Finger syndactyly, Short toe, Camptodactyly of finger	ORPHA:93404
Hyperekplexia 4	Inguinal hernia, Flexion contracture, Distal arthrogryposis, High palate, Talipes equinovarus, Ca...	OMIM:618011
Ruvalcaba Syndrome	Short metacarpal, Brachydactyly, Dental crowding, Inguinal hernia, Proximal placement of thumb, M...	ORPHA:3121
Chromosome 3Pter-P25 Deletion Syndrome	Thin upper lip vermilion, Prominent metopic ridge, Flat occiput, Overlapping toe, Postaxial polyd...	OMIM:613792
Camptodactyly With Muscular Hypoplasia, Skeletal Dysplasia, And Abnormal Palmar Creases	Small hypothenar eminence, Inguinal hernia, Dermatoglyphic ridges abnormal, Mitral valve prolapse...	OMIM:211960
Heart-Hand Syndrome, Slovenian Type	Syndactyly, Dilated cardiomyopathy, Myopathy, Aplasia of the middle phalanx of the hand, Clinodac...	OMIM:610140
Multiple Epiphyseal Dysplasia Due To Collagen 9 Anomaly	Abnormality of the epiphyses of the elbow, Abnormality of the knee, Abnormal patella morphology, ...	ORPHA:166002
Chondrodysplasia With Joint Dislocations, Gpapp Type	Short metacarpal, Recurrent patellar dislocation, Micrognathia, Capitate-hamate fusion, Short toe...	OMIM:614078
Baller-Gerold Syndrome	Aplasia/Hypoplasia of the thumb, Bowing of the long bones, Frontal bossing, Aplasia/Hypoplasia of...	ORPHA:1225
Hennekam Lymphangiectasia-Lymphedema Syndrome 2	Syndactyly, Irregular dentition, Pericardial lymphangiectasia, Lymphedema, Pulmonary lymphangiect...	OMIM:616006
Grant Syndrome	Joint dislocation, Frontal bossing, Bowing of the long bones, Micrognathia, Open bite, Brachyceph...	ORPHA:2097
Hypophosphatemic Rickets With Hypercalciuria, Hereditary	Frontal bossing, Bulging epiphyses, Enlargement of the ankles, Flat occiput, Recurrent fractures,...	OMIM:241530
Spondyloepimetaphyseal Dysplasia, Borochowitz-Cormier-Daire Type	Dysplastic iliac wing, Metaphyseal spurs, Micromelia, Bowing of the legs, Metaphyseal widening, S...	OMIM:608728
Pierpont Syndrome	Joint laxity, Thin upper lip vermilion, Pes planus, Short toe, Abnormal subcutaneous fat tissue d...	ORPHA:487825
Perching Syndrome	Joint contracture, High palate, Camptodactyly	OMIM:617055
Lethal Faciocardiomelic Dysplasia	Microretrognathia, Hypoplasia of the ulna, Sandal gap, Radial club hand, Short thumb, Hypoplasia ...	ORPHA:1972
Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency	Thin upper lip vermilion, Ventricular septal defect, Intestinal malrotation, Postaxial polydactyl...	ORPHA:404440
Apert Syndrome	Delayed eruption of teeth, Aplasia/Hypoplasia of the thumb, Finger syndactyly, Toe syndactyly, Ma...	ORPHA:87
Pseudoachondroplasia	Genu recurvatum, Limited hip extension, Delayed epiphyseal ossification, Metaphyseal widening, Os...	OMIM:177170
Clark-Baraitser Syndrome	Thin upper lip vermilion, Sandal gap, Exaggerated cupid's bow, Dolichocephaly, Brachycephaly, Dow...	OMIM:617752
Achondrogenesis, Type Ia	Abnormal femoral metaphysis morphology, Micromelia, Bowing of the legs, Polyhydramnios, Abnormal ...	OMIM:200600
Image Syndrome	Metaphyseal dysplasia, Frontal bossing, Micromelia	ORPHA:85173
Acitretin/Etretinate Embryopathy	Aplasia/hypoplasia involving bones of the lower limbs, Aplasia/Hypoplasia of the maxilla, Aplasia...	ORPHA:40366
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14	Mandibular prognathia, Tented upper lip vermilion, Single transverse palmar crease, Polyhydramnio...	ORPHA:96334
Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 1	Proximal radio-ulnar synostosis, Syndactyly, Radial bowing, Ulnar bowing, Hip dislocation, Clinod...	OMIM:605432
Osteochondrodysplasia, Brachydactyly, And Overlapping Malformed Digits	Brachydactyly, Broad hallux, Overlapping toe, Short hallux, Triangular shaped phalanges of the ha...	OMIM:618167
Arthrogryposis, Distal, Type 2B1	Mandibular prognathia, Ulnar deviation of the wrist, Rocker bottom foot, Camptodactyly of finger,...	OMIM:601680
Terminal Osseous Dysplasia	Syndactyly, Multiple joint contractures, Camptodactyly of finger, Accessory oral frenulum, Abnorm...	OMIM:300244
Ollier Disease	Micromelia, Joint stiffness, Bone pain, Osteolysis, Lymphangioma, Abnormal metaphysis morphology	ORPHA:296
Camptomelic Syndrome, Long-Limb Type	Bowing of the long bones, Micromelia	OMIM:211990
Rhizomelic Syndrome, Urbach Type	Abnormality of the knee, Brachydactyly, Rhizomelia, Micrognathia, Abnormality of the humerus, Pre...	ORPHA:3098
Hypophosphatasia, Infantile	Micromelia, Abnormality of the dentition, Bowing of the legs, Craniosynostosis, Polyhydramnios, I...	OMIM:241500
Intellectual Developmental Disorder, Autosomal Recessive 73	Osteopenia, Pes planus, Ventricular septal defect, Single transverse palmar crease, Deep philtrum...	OMIM:619717
Intellectual Developmental Disorder, Autosomal Dominant 23	Thin upper lip vermilion, Sandal gap, Dental crowding, Postaxial polydactyly, Micrognathia, Lower...	OMIM:615761
Arthrogryposis, Distal, Type 2B3	Hallux valgus, Ulnar deviation of the hand, Narrow mouth, Talipes equinovarus, Camptodactyly, Ove...	OMIM:618436
Camptodactyly Syndrome, Guadalajara Type 1	Hallux valgus, Mandibular prognathia, Scapular winging, Toe syndactyly, Brachydactyly, Camptodact...	ORPHA:1327
Osteogenesis Imperfecta, Type X	Osteopenia, Joint laxity, Bowing of the long bones, Short femur, Rhizomelia, Inguinal hernia, Mic...	OMIM:613848
Inverted Duplicated Chromosome 15 Syndrome	Frontal bossing, Ventricular septal defect, 2-3 toe syndactyly, Brachycephaly, High palate, Talip...	ORPHA:3306
Radio-Ulnar Synostosis-Amegakaryocytic Thrombocytopenia Syndrome	Clinodactyly of the 5th finger, Finger syndactyly, Radioulnar synostosis, Hip dysplasia	ORPHA:71289
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome	Omphalocele, Frontal bossing, Bowing of the long bones, Cloverleaf skull, Rhizomelia, Ventricular...	ORPHA:93267
Greenberg Dysplasia	Micromelia, Micrognathia, Polyhydramnios, Hypoplasia of the maxilla, Multiple prenatal fractures,...	OMIM:215140
Fibular Aplasia, Tibial Campomelia, And Oligosyndactyly Syndrome	Syndactyly, Abnormality of the hand, Hand oligodactyly, Tibial bowing, Foot oligodactyly, Short t...	OMIM:246570
Early-Onset Seizures-Distal Limb Anomalies-Facial Dysmorphism-Global Developmental Delay Syndrome	Hyperextensibility of the finger joints, Thin upper lip vermilion, Toe syndactyly, Arachnodactyly...	ORPHA:505237
Raine Syndrome	Mandibular prognathia, Micromelia, Micrognathia, Brachycephaly, High palate, Neonatal death, Micr...	OMIM:259775
Cornelia De Lange Syndrome 5	Toe syndactyly, Proximal placement of thumb, Micrognathia, Small hand, Brachycephaly, Cleft palat...	OMIM:300882
Spondyloepiphyseal Dysplasia-Craniosynostosis-Cleft Palate-Cataracts-Intellectual Disability Syndrome	Frontal bossing, Increased bone mineral density, Coxa valga, Micrognathia, Abnormality of the elb...	ORPHA:163649
Smith-Magenis Syndrome	Mandibular prognathia, Pes planus, Everted upper lip vermilion, Abnormality of the dentition, Vel...	OMIM:182290
Pde4D Haploinsufficiency Syndrome	Mandibular prognathia, Micrognathia, Hypoplasia of the maxilla, Accelerated skeletal maturation, ...	ORPHA:439822
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects	Osteopenia, Bicuspid aortic valve, Congenital diaphragmatic hernia, Cardiomegaly, Micrognathia, A...	OMIM:245600
Classical-Like Ehlers-Danlos Syndrome Type 2	Joint dislocation, Osteopenia, Widened atrophic scar, Equinus calcaneus, Micrognathia, Knee dislo...	ORPHA:536532
Kury-Isidor Syndrome	Finger syndactyly, Frontal bossing, Tented upper lip vermilion, Ventricular septal defect, Rocker...	OMIM:619762
Craniofacial Dysplasia-Short Stature-Ectodermal Anomalies-Intellectual Disability Syndrome	Pes planus, Inguinal hernia, Sagittal craniosynostosis, Micrognathia, Trigonocephaly, Scaphocepha...	ORPHA:459061
Aase-Smith Syndrome	Multiple joint contractures, Camptodactyly of finger, Joint stiffness, Trismus, Cleft palate, Apl...	ORPHA:916
Hypocalcemic Vitamin D-Dependent Rickets	Delayed eruption of teeth, Frontal bossing, Enlargement of the ankles, Wide cranial sutures, Flat...	ORPHA:289157
Thanatophoric Dysplasia, Glasgow Variant	Neonatal death, Micromelia, Hepatosplenomegaly	OMIM:273680
Neurogenic Arthrogryposis Multiplex Congenita	Hip contracture, Skeletal muscle atrophy, Rocker bottom foot, Ankle flexion contracture, Microgna...	ORPHA:1143
Van Den Ende-Gupta Syndrome	Glenoid fossa hypoplasia, Dental crowding, Micrognathia, Hypoplasia of the maxilla, High, narrow ...	OMIM:600920
Endocardial Fibroelastosis	Sandal gap, Micrognathia, Congestive heart failure, Endocardial fibroelastosis, Restrictive cardi...	ORPHA:2022
Epiphyseal Dysplasia, Multiple, 5	Epiphyseal dysplasia, Short metacarpal, Premature osteoarthritis, Coxa vara, Genu valgum, Irregul...	OMIM:607078
Winchester Syndrome	Arthropathy, Gingival overgrowth, Osteolysis involving tarsal bones, Carpal osteolysis, Broad met...	OMIM:277950
Gillessen-Kaesbach-Nishimura Syndrome	Omphalocele, Ulnar deviation of the hand, Congenital diaphragmatic hernia, Micrognathia, Polyhydr...	OMIM:263210
Greig Cephalopolysyndactyly Syndrome	Accelerated skeletal maturation, Abnormal calvaria morphology, Camptodactyly of toe, Broad hallux...	OMIM:175700
Phocomelia-Ectrodactyly-Deafness-Sinus Arrhythmia Syndrome	Aplasia/Hypoplasia of the thumb, Hypoplasia of the ulna, Short humerus, Abnormal dental morpholog...	ORPHA:2878
Orofaciodigital Syndrome Xviii	Sandal gap, Single transverse palmar crease, Postaxial polydactyly, Accessory oral frenulum, Dias...	OMIM:617927
Spondyloepimetaphyseal Dysplasia, Shohat Type	Joint laxity, Micromelia, Splenomegaly, Delayed epiphyseal ossification, Flared metaphysis, Verte...	OMIM:602557
Moebius Syndrome	Syndactyly, Brachydactyly, Pes planus, Abnormality of the dentition, Micrognathia, Split hand, Co...	OMIM:157900
Astley-Kendall Dysplasia	Epiphyseal stippling, Micromelia	ORPHA:85175
Progressive Spondyloepimetaphyseal Dysplasia-Short Stature-Short Fourth Metatarsals-Intellectual Disability Syndrome	Osteopenia, Short fourth metatarsal, Tented upper lip vermilion, Tibial metaphyseal irregularity,...	ORPHA:457395
Micromelic Bone Dysplasia With Cloverleaf Skull	Cloverleaf skull, Micromelia	OMIM:156830
Rhyns Syndrome	Osteopenia, Radial bowing, Delayed skeletal maturation, Osteoporosis, Short long bone, Short femo...	OMIM:602152
Campomelia, Cumming Type	Bowing of the long bones, Abnormally ossified vertebrae, Micromelia, Lymphedema, Hydrops fetalis,...	ORPHA:1318
Intellectual Developmental Disorder With Dysmorphic Facies, Seizures, And Distal Limb Anomalies	Thin upper lip vermilion, Flat occiput, Overlapping toe, Down-sloping shoulders, Ventricular sept...	OMIM:617452
Tibial Torsion, Bilateral Medial	Bowing of the legs, Tibial torsion	OMIM:188800
Osebold-Remondini Syndrome	Dysplastic distal radial epiphyses, Broad toe, Decreased finger mobility, Hypoplasia of the ulna,...	OMIM:112910
Leukodystrophy, Hypomyelinating, 26, With Chondrodysplasia	Joint laxity, Coxa valga, Elbow dislocation, Pierre-Robin sequence, Advanced ossification of carp...	OMIM:620269
Syndactyly Type 5	Camptodactyly of finger, 2-3 toe syndactyly, Ulnar deviation of finger, Metacarpal synostosis, Cl...	ORPHA:93406
Neurodevelopmental Disorder With Structural Brain Anomalies And Dysmorphic Facies	Ulnar deviation of the wrist, Micrognathia, Unilambdoid synostosis, Brachycephaly, Plagiocephaly,...	OMIM:618577
Sandestig-Stefanova Syndrome	Prominent metopic ridge, Rocker bottom foot, Muscular ventricular septal defect, Orofacial cleft,...	OMIM:618804
Martsolf Syndrome 1	Micrognathia, Hypoplasia of the maxilla, Osteopathia striata, Brachycephaly, High palate, Short p...	OMIM:212720
Achondrogenesis, Type Ib	Inguinal hernia, Micromelia, Edema, Hypoplastic ilia, Polyhydramnios, Hydrops fetalis, Stillbirth...	OMIM:600972
Impaired Intellectual Development And Distinctive Facial Features With Or Without Cardiac Defects	Frontal bossing, Brachycephaly, Wide mouth, Macroglossia, Plagiocephaly, Everted lower lip vermil...	OMIM:616789
Dyssegmental Dysplasia, Silverman-Handmaker Type	Bowing of the long bones, Micromelia, Micrognathia, Short long bone, Talipes equinovarus, Narrow ...	OMIM:224410
Orofaciodigital Syndrome Xvii	Prominent metopic ridge, Median cleft lip, Short middle phalanx of the 2nd finger, High, narrow p...	OMIM:617926
Intellectual Developmental Disorder With Speech Delay, Autism, And Dysmorphic Facies	Mandibular prognathia, Pes planus, Tapered finger, Small hand, Brachycephaly, Downturned corners ...	OMIM:618672
Glutamine Deficiency, Congenital	Micromelia, Flexion contracture, Thin vermilion border, Bradycardia, Camptodactyly, Neonatal death	OMIM:610015
Split-Hand/Foot Malformation 3	Microretrognathia, Hypoplasia of the maxilla, Split hand, Cleft palate, High palate, Narrow mouth...	OMIM:246560
Jawad Syndrome	Hallux valgus, Single interphalangeal crease of fifth finger, Postaxial polydactyly, 4-5 toe synd...	OMIM:251255
Ventricular Extrasystoles With Syncopal Episodes-Perodactyly-Robin Sequence Syndrome	Joint dislocation, Camptodactyly of finger, Aplasia/Hypoplasia of the distal phalanges of the toe...	ORPHA:3201
Infantile Systemic Hyalinosis	Osteopenia, Abnormal dental morphology, Camptodactyly of finger, Micromelia, Malabsorption, Telan...	ORPHA:2176
Braddock-Carey Syndrome 1	U-Shaped upper lip vermilion, Aortic valve prolapse, Ventricular septal defect, Pierre-Robin sequ...	OMIM:619980
Cooper-Jabs Syndrome	Frontal bossing, Ventricular septal defect, Camptodactyly of finger, Proximal placement of thumb,...	ORPHA:1488
Osteogenesis Imperfecta, Type Xii	Delayed eruption of teeth, Hyperextensibility of the finger joints, Midface retrusion, Recurrent ...	OMIM:613849
15Q11Q13 Microduplication Syndrome	Clinodactyly of the 5th finger, Finger syndactyly, Joint hyperflexibility	ORPHA:238446
Intellectual Developmental Disorder, X-Linked, Syndromic, Armfield Type	Abnormal hand morphology, Small hand, Cleft palate, Short foot, Malar flattening, Midface retrusion	OMIM:300261
Osteopathia Striata-Cranial Sclerosis Syndrome	Flat occiput, Micrognathia, High, narrow palate, Brachycephaly, Large iliac wing, Bifid uvula, In...	ORPHA:2780
Hydrolethalus	Micromelia, Micrognathia, Polyhydramnios, Postaxial hand polydactyly, Submucous cleft hard palate...	ORPHA:2189
Familial Scaphocephaly Syndrome, Mcgillivray Type	Mandibular prognathia, Broad hallux phalanx, Toe syndactyly, Open bite, High palate, Dolichocepha...	ORPHA:168624
Ritscher-Schinzel Syndrome 2	Syndactyly, Atrial septal defect, Broad hallux, Overlapping toe, Camptodactyly of finger, Protrud...	OMIM:300963
Short Stature, Optic Nerve Atrophy, And Pelger-Huet Anomaly	Syndactyly, Broad hallux, Single transverse palmar crease, Micromelia, Sandal gap, Delayed skelet...	OMIM:614800
Isolated Osteopoikilosis	Bone pain, Abnormal femur morphology, Abnormal long bone morphology, Abnormal bone ossification, ...	ORPHA:166119
Arthrogryposis, Distal, Type 5D	Tongue atrophy, Congenital hip dislocation, Decreased muscle mass, Limited elbow movement, Microg...	OMIM:615065
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 3	Syndactyly, Postaxial hand polydactyly	OMIM:615938
Ritscher-Schinzel Syndrome 3	Hypoplasia of the ulna, Thin upper lip vermilion, Micrognathia, Ulnar bowing, Shortening of all d...	OMIM:619135
Vulto-Van Silfhout-De Vries Syndrome	Mandibular prognathia, Joint laxity, Frontal bossing, Tented upper lip vermilion, 2-3 toe cutaneo...	OMIM:615828
Cleidocranial Dysplasia	Mandibular prognathia, Sinusitis, Micrognathia, High, narrow palate, Brachycephaly, Coxa vara, Gl...	ORPHA:1452
Catifa Syndrome	Delayed eruption of teeth, Inguinal hernia, Cleft lip, Cleft palate, Increased overbite, Camptoda...	OMIM:618761
Intellectual Developmental Disorder, Autosomal Dominant 26	Inguinal hernia, Decreased palmar creases, Micrognathia, Deep philtrum, Brachycephaly, Wide mouth...	OMIM:615834
Chromosome 16P12.2-P11.2 Deletion Syndrome, 7.1- To 8.7-Mb	Thin upper lip vermilion, Frontal bossing, Single transverse palmar crease, Micrognathia, Pierre-...	OMIM:613604
Periventricular Nodular Heterotopia 7	Microretrognathia, Contracture of the proximal interphalangeal joint of the 2nd finger, Dental cr...	OMIM:617201
Distal Arthrogryposis Type 1	Camptodactyly of finger, Rocker bottom foot, Joint stiffness, Talipes, Ulnar deviation of finger,...	ORPHA:1146
Osteosclerosis With Ichthyosis And Fractures	Increased bone mineral density, Recurrent fractures, Femoral bowing, Tibial bowing, Cortical thic...	OMIM:166740
Hypertrichosis Cubiti	Rhizomelia, Micromelia, Delayed skeletal maturation, Abnormality of the elbow, Joint hyperflexibi...	ORPHA:2220
Pelger-Huet Anomaly	Frontal bossing, Foot dorsiflexor weakness, Ventricular septal defect, Abnormality of the dentiti...	OMIM:169400
Multiple Epiphyseal Dysplasia, Al-Gazali Type	Frontal bossing, Enlarged joints, Delayed epiphyseal ossification, Triangular mouth, Genu valgum,...	ORPHA:166024
Bardet-Biedl Syndrome 5	Syndactyly, Polydactyly, Brachydactyly	OMIM:615983
Cardioacrofacial Dysplasia 2	Mandibular prognathia, Tented upper lip vermilion, Accessory oral frenulum, Conical tooth, Recurr...	OMIM:619143
Disorganization, Mouse, Homolog Of	Cleft upper lip, Hip dislocation, Cleft palate, Multiple lipomas, Hand polydactyly, Sacral lipoma...	OMIM:223200
Orofaciodigital Syndrome Type 10	Micrognathia, Preaxial polydactyly, Short 4th finger, Short tibia, Radial deviation of the hand, ...	ORPHA:2756
Campomelic Dysplasia	11 pairs of ribs, Poorly ossified cervical vertebrae, Bowing of the long bones, Small abnormally ...	ORPHA:140
Even-Plus Syndrome	Epiphyseal dysplasia, Brachycephaly, High palate, Hypodontia, Atrial septal defect, Anal atresia,...	OMIM:616854
Otopalatodigital Syndrome Type 1	Thickened calvaria, Bowing of the long bones, Increased bone mineral density, Sandal gap, Short h...	ORPHA:90650
Craniosynostosis-Hydrocephalus-Arnold-Chiari Malformation Type I-Radioulnar Synostosis Syndrome	Bowing of the long bones, Toe syndactyly, Turricephaly, Craniosynostosis, Micrognathia, Brachycep...	ORPHA:171839
Myhre Syndrome	Mandibular prognathia, Hypoplasia of the maxilla, Short philtrum, Hypoplastic iliac wing, Atrial ...	OMIM:139210
Fetal Minoxidil Syndrome	Clinodactyly of the 5th finger, Umbilical hernia, Ventricular septal defect, Micrognathia	ORPHA:1918
Bardet-Biedl Syndrome 11	Polydactyly	OMIM:615988
19P13.12 Microdeletion Syndrome	Short palm, Finger syndactyly, Aortic regurgitation, Atrial septal defect, Sandal gap, Ventricula...	ORPHA:254346
Fibrochondrogenesis	Omphalocele, Hypoplastic scapulae, Camptodactyly of finger, Micromelia, Cleft palate, Plagiocepha...	ORPHA:2021
Peroxisome Biogenesis Disorder 8A (Zellweger)	Epiphyseal stippling, Glossoptosis, Ventricular septal defect	OMIM:614876
Spondylometaphyseal Dysplasia, 'Corner Fracture' Type	Coxa vara, Tibial bowing, Reduced bone mineral density, High palate, Abnormal bone ossification, ...	ORPHA:93315
Desbuquois Dysplasia 1	Joint dislocation, Triangular shaped phalanges of the hand, Metaphyseal widening, Osteoarthritis,...	OMIM:251450
Acropectoral Syndrome	Preaxial hand polydactyly, Finger syndactyly	ORPHA:85203
Cranioectodermal Dysplasia	Finger syndactyly, Brachydactyly, Frontal bossing, Rhizomelia, Abnormal dental enamel morphology,...	ORPHA:1515
Isolated Right Ventricular Hypoplasia	Tricuspid regurgitation, Abnormal atrioventricular conduction, Right ventricular failure, Cardiom...	ORPHA:439
Robinow Syndrome, Autosomal Dominant 3	Hypoplastic right heart, Micrognathia, Anteriorly placed anus, Downturned corners of mouth, Paten...	OMIM:616894
Osteogenesis Imperfecta, Type Viii	Osteopenia, Joint laxity, Short metacarpal, Radial bowing, Inguinal hernia, Recurrent fractures, ...	OMIM:610915
Geroderma Osteodysplasticum	Mandibular prognathia, Hyperextensibility of the finger joints, Osteopenia, Recurrent fractures, ...	OMIM:231070
Acromegaloid Facial Appearance Syndrome	Joint hypermobility, Tapered finger, Micrognathia, Deep philtrum, Large hands, Thick vermilion bo...	OMIM:102150
Bardet-Biedl Syndrome 7	Postaxial polydactyly, 2-3 toe syndactyly, Polydactyly, Narrow mouth, Malar flattening, Clinodactyly	OMIM:615984
Apert Syndrome	Mandibular prognathia, Limited elbow movement, Delayed epiphyseal ossification, Brachycephaly, Cu...	OMIM:101200
Neurodevelopmental Disorder With Spasticity, Hypomyelinating Leukodystrophy, And Brain Abnormalities	Unilateral wrist flexion contracture, Femoral retroversion, Micrognathia, Knee flexion contractur...	OMIM:616531
Cranioacrofacial Syndrome	Abnormal hand morphology, Dupuytren contracture, Ventricular septal defect, Pulmonic stenosis	OMIM:122850
Spondyloepiphyseal Dysplasia, Kimberley Type	Osteoarthritis, Abnormal epiphysis morphology, Micromelia	ORPHA:93283
Chromosome 1P36 Deletion Syndrome, Proximal	Wolff-Parkinson-White syndrome, Frontal bossing, Bicuspid aortic valve, Ventricular septal defect...	OMIM:619343
Congenital Muscular Dystrophy, Fukuyama Type	Hypoglycosylation of alpha-dystroglycan, Camptodactyly of finger, Dilated cardiomyopathy, Flexion...	ORPHA:272
Heart Defects-Limb Shortening Syndrome	Atrial septal defect, Ventricular septal defect, Mesomelic/rhizomelic limb shortening, Accelerate...	ORPHA:1354
Orofaciodigital Syndrome Viii	Syndactyly, Median cleft lip, Cleft palate, Polydactyly, High palate, Short tibia	OMIM:300484
Cornelia De Lange Syndrome 1	Single transverse palmar crease, Micromelia, Proximal placement of thumb, Micrognathia, High, nar...	OMIM:122470
Robinow Syndrome, Autosomal Dominant 2	Dental crowding, Micrognathia, Oligodontia, Calvarial osteosclerosis, Cleft soft palate, Gingival...	OMIM:616331
Tall Stature-Intellectual Disability-Renal Anomalies Syndrome	Inguinal hernia, Midface retrusion, Ventricular septal defect, Abnormal thumb morphology, Metatar...	ORPHA:500095
Congenital Disorder Of Glycosylation, Type Ie	Short palm, Flat occiput, Ankle flexion contracture, Micrognathia, High, narrow palate, Splenomeg...	OMIM:608799
Lipodystrophy, Generalized, With Mental Retardation, Deafness, Short Stature, And Slender Bones	Osteopenia, Hypoplasia of the maxilla, Delayed skeletal maturation, Congenital generalized lipody...	OMIM:608154
Intellectual Developmental Disorder With Speech Delay And Dysmorphic Facies	Exaggerated cupid's bow, Rocker bottom foot, Ventricular septal defect, Trigonocephaly, Wide mout...	OMIM:618506
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Leptodactylic Type	Abnormal metatarsal morphology, Aplasia/hypoplasia of the extremities, Generalized joint laxity, ...	ORPHA:93360
Sweeney-Cox Syndrome	Flat occiput, Polyhydramnios, Micrognathia, Asplenia, Brachycephaly, High palate, Short philtrum,...	OMIM:617746
Intellectual Developmental Disorder, Autosomal Recessive 79	Thin upper lip vermilion, Pes planus, Ventricular septal defect, Short hallux, Long fingers, Clin...	OMIM:620393
Fibrochondrogenesis 1	Hydrops fetalis, Narrow greater sciatic notch, Short palm, Clinodactyly of the 5th finger, Patent...	OMIM:228520
Hyperphosphatasia With Impaired Intellectual Development Syndrome 6	Osteopenia, Hip contracture, Necrotizing enterocolitis, Toe syndactyly, Inguinal hernia, Polyhydr...	OMIM:616809
Split-Hand/Foot Malformation 1	Syndactyly, Broad hallux, Split hand, Hand oligodactyly, Cleft palate, Split foot, Foot oligodact...	OMIM:183600
Cornelia De Lange Syndrome 4 With Or Without Midline Brain Defects	Syndactyly, Thin upper lip vermilion, Single transverse palmar crease, Intestinal malrotation, Ve...	OMIM:614701
Nemaline Myopathy 9	Ventricular septal defect, Polyhydramnios, Micrognathia, Cleft palate, High palate, Arthrogryposi...	OMIM:615731
14Q24.1Q24.3 Microdeletion Syndrome	Joint laxity, Limited elbow extension and supination, Thin upper lip vermilion, Ventricular septa...	ORPHA:401935
49,Xyyyy Syndrome	Abnormality of the epiphyses of the elbow, Turricephaly, Large carpal bones, Micrognathia, Trigon...	ORPHA:99330
Osseous Heteroplasia, Progressive	Limb undergrowth, Ankylosis, Ectopic ossification in muscle tissue	OMIM:166350
Bohring-Opitz Syndrome	Joint dislocation, Polyhydramnios, Micrognathia, Flexion contracture, Atrial septal defect, Dislo...	OMIM:605039
Bardet-Biedl Syndrome 14	Polydactyly	OMIM:615991
Cardiofacioneurodevelopmental Syndrome	Ventricular septal defect, Micrognathia, Asplenia, Cleft lip, Cleft palate, Pulmonic stenosis, Ca...	OMIM:619123
Spondyloepimetaphyseal Dysplasia, Di Rocco Type	Metaphyseal dysplasia, Bowing of the legs, Delayed skeletal maturation, Reduced bone mineral dens...	OMIM:617974
Carpenter Syndrome	Syndactyly, Finger syndactyly, Toe syndactyly, Cloverleaf skull, Turricephaly, Craniosynostosis, ...	ORPHA:65759
Imagawa-Matsumoto Syndrome	Mandibular prognathia, Accelerated skeletal maturation, Anteriorly placed anus, Large hands, Camp...	OMIM:618786
Pentasomy X	Camptodactyly of finger, Micrognathia, Small hand, Short foot, Plagiocephaly, Radioulnar synostos...	ORPHA:11
Polydactyly, Postaxial, Type A5	Syndactyly, Postaxial hand polydactyly, Cutaneous finger syndactyly, Metacarpal synostosis	OMIM:263450
Thoc6-Related Developmental Delay-Microcephaly-Facial Dysmorphism Syndrome	Left-to-right shunt, Overlapping toe, Abnormality of the dentition, Carious teeth, Thin lower lip...	ORPHA:363444
Achondrogenesis, Type Ii	Microretrognathia, Absent vertebral body mineralization, Frontal bossing, Broad long bones, Edema...	OMIM:200610
Cerebrooculofacioskeletal Syndrome 3	Rocker bottom foot, Edema, Micrognathia, Cleft palate, Talipes equinovarus, Arthrogryposis multip...	OMIM:616570
Autosomal Dominant Otospondylomegaepiphyseal Dysplasia	Micrognathia, Osteoarthritis, Cleft palate, Glossoptosis, Long philtrum, Malar flattening, Abnorm...	ORPHA:166100
Anauxetic Dysplasia 1	Mandibular prognathia, Hip contracture, Joint laxity, Rhizomelia, Hypoplastic ilia, Short toe, Fl...	OMIM:607095
Chromosome 2Q37 Deletion Syndrome	Short metacarpal, Short fourth metatarsal, Short toe, Brachycephaly, Subvalvular aortic stenosis,...	OMIM:600430
Developmental Malformations-Deafness-Dystonia Syndrome	Hypoplastic scapulae, Femoral retroversion, Micromelia, Orofacial cleft, Macroglossia	ORPHA:79107
Hamamy Syndrome	Osteopenia, Prolonged QRS complex, Micrognathia, Brachycephaly, High palate, Atrial septal defect...	OMIM:611174
Hennekam Syndrome	Abnormal oral mucosa morphology, Lymphedema, Hydrops fetalis, Short philtrum, Finger syndactyly, ...	ORPHA:2136
Chromosome 6Pter-P24 Deletion Syndrome	Tented upper lip vermilion, Dental crowding, Brachycephaly, High palate, Atrial septal defect, Cl...	OMIM:612582
Frontometaphyseal Dysplasia 1	Skeletal muscle atrophy, Selective tooth agenesis, Limited elbow movement, Absent frontal sinuses...	OMIM:305620
Syndactyly Type 4	1-5 finger syndactyly, Toe syndactyly, Camptodactyly of finger, 6 metacarpals, Limitation of join...	ORPHA:93405
Cornelia De Lange Syndrome 3 With Or Without Midline Brain Defects	Bicuspid aortic valve, Single transverse palmar crease, Proximal placement of thumb, Limited elbo...	OMIM:610759
Epiphyseal Dysplasia, Multiple, 7	Epiphyseal dysplasia, Monkey wrench femoral neck, Advanced ossification of carpal bones, Flat ace...	OMIM:617719
Schaaf-Yang Syndrome	Mandibular prognathia, Frontal bossing, Abnormality of the philtrum, Rocker bottom foot, Tapered ...	OMIM:615547
Microcephalic Osteodysplastic Primordial Dwarfism Type Ii	Atrial septal defect, Micromelia, Delayed skeletal maturation, Coxa vara, Narrow pelvis bone, Too...	ORPHA:2637
Desbuquois Syndrome	Ventricular septal defect, Camptodactyly of finger, Genu recurvatum, Coxa valga, Elbow dislocatio...	ORPHA:1425
Desmosterolosis	Frontal bossing, Increased bone mineral density, Intestinal malrotation, Micromelia, Micrognathia...	ORPHA:35107
Brachydactyly-Syndactyly Syndrome	Syndactyly, Finger syndactyly, Camptodactyly, Short phalanx of finger, Short digit, Oligodactyly,...	OMIM:610713
Neurodevelopmental Disorder With Seizures And Gingival Overgrowth	Jaw swelling, Flexion contracture of toe, Camptodactyly of finger, Gingival overgrowth	OMIM:619323
Bardet-Biedl Syndrome 13	Polydactyly	OMIM:615990
Short-Rib Thoracic Dysplasia 16 With Or Without Polydactyly	Short metacarpal, Brachydactyly, Sandal gap, Postaxial polydactyly, Carious teeth, Short metatars...	OMIM:617102
Stuve-Wiedemann Syndrome 2	Bowing of the long bones, Congestive heart failure, Short long bone, Stillbirth, Camptodactyly, N...	OMIM:619751
Neurodevelopmental Disorder With Dysmorphic Facies And Skeletal And Brain Abnormalities	11 pairs of ribs, Broad hallux, Ventricular septal defect, Clinodactyly of the 2nd toe, Coxa valg...	OMIM:620073
Intellectual Developmental Disorder, X-Linked, Syndromic, Hackmann-Di Donato Type	Joint laxity, Arachnodactyly, Ventricular septal defect, Mitral regurgitation, Short philtrum, Ta...	OMIM:301039
Thiemann Disease	Avascular necrosis, Broad phalanx, Short phalanx of finger	OMIM:165700
Split-Foot Deformity With Mandibulofacial Dysostosis	Toe syndactyly, Micrognathia, Split hand, Cleft palate, Split foot, Malar flattening	OMIM:183700
Congenital Heart Block	First degree atrioventricular block, Gallop rhythm, Pericardial effusion, Congestive heart failur...	ORPHA:60041
Cardiocranial Syndrome, Pfeiffer Type	Small hypothenar eminence, Contracture of the proximal interphalangeal joint of the 2nd finger, T...	ORPHA:2872
Al Kaissi Syndrome	Thin upper lip vermilion, Torticollis, Pes planus, Macrodontia, High, narrow palate, Small hand, ...	OMIM:617694
Alg9-Cdg	Villous atrophy, Micrognathia, Hydrops fetalis, Brachycephaly, Right ventricular dilatation, Narr...	ORPHA:79328
Loeys-Dietz Syndrome 5	Decreased muscle mass, Tented upper lip vermilion, Osteoarthritis, Brachycephaly, High palate, At...	OMIM:615582
Acromicric Dysplasia	Short metacarpal, Narrow mouth, Deep philtrum, Thick lower lip vermilion, Delayed skeletal matura...	OMIM:102370
Rhizomelic Limb Shortening With Dysmorphic Features	Hyperextensibility of the finger joints, Rhizomelia, Single transverse palmar crease, Micrognathi...	OMIM:618821
Charlie M Syndrome	Finger syndactyly, Micrognathia, Narrow mouth, Non-midline cleft lip, Split hand, Tooth agenesis,...	ORPHA:1406
Ectodermal Dysplasia-Syndactyly Syndrome 2	Syndactyly, Thin upper lip vermilion, Cardiomegaly, Palmoplantar keratoderma, Enamel hypoplasia	OMIM:613576
Monosomy 5P	Microretrognathia, Finger syndactyly, Inguinal hernia, Recurrent fractures, Small hand, Joint hyp...	ORPHA:281
Schwartz-Jampel Syndrome	Skeletal muscle atrophy, Micromelia, Micrognathia, Polyhydramnios, Coxa vara, High palate, Wrist ...	ORPHA:800
Mulibrey Nanism	Frontal bossing, Dental crowding, Single transverse palmar crease, Cardiomegaly, Absent frontal s...	OMIM:253250
Hypophosphatemic Rickets, X-Linked Recessive	Bulging epiphyses, Enlargement of the ankles, Osteomalacia, Recurrent fractures, Bowing of the le...	OMIM:300554
Acromesomelic Dysplasia 2B	Short metacarpal, Brachydactyly, Rhizomelia, Deformed tarsal bones, Talipes equinovalgus, Short m...	OMIM:228900
Chromosome 13Q33-Q34 Deletion Syndrome	Irregular dentition, Tented upper lip vermilion, Single transverse palmar crease, Micrognathia, B...	OMIM:619148
Bardet-Biedl Syndrome 8	Situs inversus totalis, Brachycephaly, Postaxial polydactyly	OMIM:615985
Radio-Renal Syndrome	Micromelia, Micrognathia, High, narrow palate, Hypoplasia of the radius, Abnormality of the elbow...	ORPHA:3015
Short Stature-Craniofacial Anomalies-Genital Hypoplasia Syndrome	Microretrognathia, Finger syndactyly, Frontal bossing, Arachnodactyly, Camptodactyly of finger, A...	ORPHA:2994
Spinocerebellar Ataxia, Autosomal Recessive 20	Delayed eruption of teeth, Dental crowding, Splenomegaly, Macroglossia, Long philtrum, High palat...	OMIM:616354
Holzgreve Syndrome	Hand polydactyly, Hypoplastic left heart, Cleft palate, Cleft upper lip	OMIM:236110
Larsen-Like Syndrome	Joint dislocation, Joint laxity, Frontal bossing, Delayed skeletal maturation, Dental malocclusio...	OMIM:608545
Diamond-Blackfan Anemia 6	Ventricular hypertrophy, Ventricular septal defect, Tracheomalacia, Cleft upper lip, Micrognathia...	OMIM:612561
Orofaciodigital Syndrome Iv	Toe syndactyly, Postaxial polydactyly, Accessory oral frenulum, Hamartoma of tongue, Micrognathia...	OMIM:258860
Char Syndrome	Toe syndactyly, Mesoaxial foot polydactyly, Mesoaxial hand polydactyly, Ventricular septal defect...	ORPHA:46627
Crisponi/Cold-Induced Sweating Syndrome 1	Short palm, Pes planus, Facial palsy, Tapered finger, Carious teeth, Narrow mouth, Micrognathia, ...	OMIM:272430
Antley-Bixler Syndrome	Frontal bossing, Turricephaly, Arachnodactyly, Camptodactyly of finger, Craniosynostosis, Recurre...	ORPHA:83
Congenital Varicella Syndrome	Atypical scarring of skin, Micromelia	ORPHA:291
Adams-Oliver Syndrome 5	Syndactyly, Inguinal hernia, Hypersplenism, Splenomegaly, Right atrial enlargement, Esophageal va...	OMIM:616028
Fetal Trimethadione Syndrome	Ventricular septal defect, Micrognathia, Brachycephaly, High palate, Transposition of the great a...	ORPHA:1913
Coxoauricular Syndrome	Micromelia, Hip dislocation, Abnormal femur morphology, Reduced bone mineral density, Abnormal pe...	ORPHA:1508
Ulna And Fibula, Absence Of, With Severe Limb Deficiency	Aplasia/hypoplasia of the extremities, Femoral bowing, Foot oligodactyly, High palate, Aplasia/Hy...	OMIM:276820
Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans	Frontal bossing, Rhizomelia, Congestive heart failure, Tibial bowing, Femoral bowing, Neonatal de...	OMIM:616482
Orofaciodigital Syndrome Type 4	Joint dislocation, Abnormal oral mucosa morphology, Micromelia, Micrognathia, High, narrow palate...	ORPHA:2753
Temtamy Preaxial Brachydactyly Syndrome	Syndactyly, Short metacarpal, Hitchhiker thumb, Tarsal synostosis, Diastema, Deep philtrum, Talon...	OMIM:605282
Schinzel-Giedion Midface Retraction Syndrome	Increased density of long bones, Single transverse palmar crease, Tibial bowing, Hypoplasia of fi...	OMIM:269150
Microcephalic Osteodysplastic Primordial Dwarfism, Type I	Single transverse palmar crease, Micromelia, Micrognathia, Delayed epiphyseal ossification, Flexi...	OMIM:210710
Mucolipidosis Type Iii	Craniofacial hyperostosis, Inguinal hernia, Abnormal heart valve morphology, Joint stiffness, Cle...	ORPHA:577
Pfeiffer Syndrome Type 1	Broad hallux phalanx, Aplasia/Hypoplasia of the thumb, Finger syndactyly, Toe syndactyly, Midface...	ORPHA:93258
Neurodevelopmental Disorder With Intention Tremor, Pyramidal Signs, Dyspraxia, And Ocular Anomalies	Ventricular septal defect, Brachycephaly, Dextrotransposition of the great arteries, Ankle clonus...	OMIM:619995
Cardiomyopathy, Familial Hypertrophic, 4	First degree atrioventricular block, Cardiomegaly, Atrioventricular block, Left bundle branch blo...	OMIM:115197
Faciocardiomelic Dysplasia, Lethal	Hypoplasia of the ulna, Radial deviation of the hand, Single transverse palmar crease, Talipes, M...	OMIM:227270
Intellectual Disability-Coarse Face-Macrocephaly-Cerebellar Hypotrophy Syndrome	Frontal bossing, Dental crowding, Palpebral edema, Deep philtrum, Hepatosplenomegaly, Macroglossi...	ORPHA:397709
Schneckenbecken Dysplasia	Hypoplastic scapulae, Increased fibular diameter, Dumbbell-shaped long bone, Micromelia, Hypoplas...	ORPHA:3144
Adams-Oliver Syndrome 6	Syndactyly, Tricuspid regurgitation, Ventricular septal defect, Portal hypertension, Splenomegaly...	OMIM:616589
Kaposiform Lymphangiomatosis	Abnormal ischium morphology, Epidural hemorrhage, Abnormal pelvis bone morphology, Abnormal humer...	ORPHA:464329
Metaphyseal Chondrodysplasia, Schmid Type	Broad proximal phalanges of the hand, Bowing of the legs, Short tubular bones of the hand, Proxim...	ORPHA:174
Spondylometaepiphyseal Dysplasia, Short Limb-Hand Type	Micromelia, Bowing of the legs, Micrognathia, Triangular shaped distal phalanges of the hand, Abn...	OMIM:271665
Wieacker-Wolff Syndrome, Female-Restricted	Microretrognathia, Hip contracture, Radial deviation of the hand, Rocker bottom foot, Facial pals...	OMIM:301041
Symphalangism, Distal, With Microdontia, Dental Pulp Stones, And Narrowed Zygomatic Arch	Aplasia/Hypoplasia of the middle phalanges of the hand, Absent trapezium, Pulp calcification, Con...	OMIM:606895
Pallister-Hall Syndrome	Atrial septal defect, Atrioventricular canal defect, Bifid uvula, Microretrognathia, Mesoaxial po...	ORPHA:672
Roifman Syndrome	Hip contracture, Short metacarpal, Thin upper lip vermilion, Noncompaction cardiomyopathy, Single...	OMIM:616651
Multicentric Carpotarsal Osteolysis Syndrome	Osteopenia, Ulnar deviation of the hand, Ankle swelling, Congenital diaphragmatic hernia, Microgn...	OMIM:166300
Arthrogryposis, Distal, Type 2E	Foot joint contracture, Micrognathia, Trismus, Distal arthrogryposis, Talipes equinovarus, Narrow...	OMIM:121070
Solitary Bone Cyst	Abnormal tibia morphology, Bone pain, Abnormal pubic bone morphology, Pathologic fracture, Proxim...	ORPHA:83468
Congenital Vertical Talus	Pes planus, Rocker bottom foot, Equinus calcaneus, Lower extremity joint dislocation, Abnormality...	ORPHA:178382
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 3	Osteopenia, High palate, Short phalanx of finger, Bifid uvula, Dislocated radial head, Joint laxi...	OMIM:612350
Epidermolytic Palmoplantar Keratoderma	Interphalangeal joint contracture of finger, Diffuse palmoplantar hyperkeratosis, Clubbing, Palmo...	ORPHA:2199
Crouzon Syndrome-Acanthosis Nigricans Syndrome	Frontal bossing, Turricephaly, Hypoplasia of the maxilla, Brachycephaly, Abnormal metacarpal morp...	ORPHA:93262
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 2	Congenital hip dislocation, Long distal phalanx of finger, Slender proximal phalanx of finger, Di...	OMIM:603546
Silver-Russell Syndrome Due To Maternal Uniparental Disomy Of Chromosome 11	Frontal bossing, Lower limb asymmetry, Cleft palate, Abnormal heart morphology, Clinodactyly of t...	ORPHA:231147
Cenani-Lenz Syndactyly Syndrome	Syndactyly, Hypoplasia of the ulna, Premature loss of permanent teeth, Broad hallux, Micrognathia...	OMIM:212780
Short-Rib Thoracic Dysplasia 2 With Or Without Polydactyly	Short metacarpal, Rhizomelia, Postaxial hand polydactyly, Broad palm, Short foot, Mesomelia, Brac...	OMIM:611263
Caffey Disease	Bowing of the legs, Tibial bowing, Periosteal thickening of long tubular bones, Calvarial hyperos...	OMIM:114000
Brachymorphism-Onychodysplasia-Dysphalangism Syndrome	Atrial septal defect, Inguinal hernia, Frontal bossing, Abnormal mitral valve morphology, Delayed...	ORPHA:1292
Arthrogryposis, Distal, Type 11	Rocker bottom foot, Metatarsus adductus, Calcaneovalgus deformity, Talipes equinovarus, Camptodac...	OMIM:620019
Weaver Syndrome	Finger syndactyly, Inguinal hernia, Sandal gap, Camptodactyly of finger, Micrognathia, Accelerate...	ORPHA:3447
8P23.1 Duplication Syndrome	Toe syndactyly, Ventricular septal defect, Thick vermilion border, Pulmonic stenosis, Long philtr...	ORPHA:251076
Suleiman-El-Hattab Syndrome	Microretrognathia, Thin upper lip vermilion, Inguinal hernia, Ventricular septal defect, Single t...	OMIM:618950
Epiphyseal Dysplasia, Multiple, 1	Epiphyseal dysplasia, Short metacarpal, Pes planus, Joint stiffness, Avascular necrosis of the ca...	OMIM:132400
Congenital Limbs-Face Contractures-Hypotonia-Developmental Delay Syndrome	Pursed lips, Arachnodactyly, Micrognathia, Narrow mouth, Calcaneovalgus deformity, Adducted thumb...	ORPHA:562528
Short-Rib Thoracic Dysplasia 14 With Polydactyly	Accessory oral frenulum, Postaxial polydactyly, Aplastic clavicle, Micromelia, Hamartoma of tongu...	OMIM:616546
Trigonocephaly With Short Stature And Developmental Delay	Inguinal hernia, Ventricular septal defect, Sagittal craniosynostosis, Trigonocephaly, High palat...	OMIM:314320
Orofaciodigital Syndrome Xi	Cleft palate, Postaxial polydactyly, Hypoplasia of the odontoid process	OMIM:612913
Aymé-Gripp Syndrome	Congenital diaphragmatic hernia, Brachycephaly, Oligodontia, Clinodactyly of the 5th finger, Prom...	ORPHA:1272
Schisis Association	Omphalocele, Micromelia, Congenital diaphragmatic hernia, Tracheoesophageal fistula, Cleft palate...	ORPHA:63862
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome	Joint laxity, Syndactyly, Ventricular septal defect, Polydactyly, Hernia, Smooth philtrum	OMIM:602501
Silver-Russell Syndrome Due To An Imprinting Defect Of 11P15	Dental crowding, Diastasis recti, Delayed closure of the anterior fontanelle, Lower limb asymmetr...	ORPHA:231140
Kagami-Ogata Syndrome	Omphalocele, Atrial septal defect, Inguinal hernia, Frontal bossing, Ventricular septal defect, D...	OMIM:608149
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly	Median cleft lip, Tricuspid regurgitation, Intestinal malrotation, Hamartoma of tongue, Ventricul...	OMIM:263520
Intellectual Disability, Wolff Type	Microretrognathia, Inguinal hernia, Camptodactyly of finger, Non-midline cleft lip, Thick lower l...	ORPHA:3080
Syndactyly, Type V	Brachydactyly, Camptodactyly of finger, 4-5 toe syndactyly, 4-5 metacarpal synostosis, Enlarged p...	OMIM:186300
Neu-Laxova Syndrome	Osteopenia, Skeletal muscle atrophy, Micromelia, Micrognathia, Polyhydramnios, Flexion contractur...	ORPHA:2671
Acrorenal Syndrome	Abnormal morphology of ulna, Micrognathia, Abnormal tibia morphology, Split hand, Cleft palate, A...	ORPHA:971
Thrombocytopenia-Absent Radius Syndrome	Finger syndactyly, Tibial torsion, Aplasia/hypoplasia of the humerus, Absent radius, Coxa valga, ...	ORPHA:3320
Muenke Syndrome	Tarsal synostosis, High, narrow palate, Brachycephaly, Cone-shaped epiphysis, Short foot, Plagioc...	ORPHA:53271
Progressive Pseudorheumatoid Arthropathy Of Childhood	Enlarged epiphyses, Wrist swelling, Coxa vara, Abnormal shoulder morphology, Abnormal hip joint m...	ORPHA:1159
Monosomy 18P	Micrognathia, Carious teeth, Lymphedema, Brachycephaly, Cleft palate, Downturned corners of mouth...	ORPHA:1598
Otopalatodigital Syndrome Type 2	Micrognathia, Preaxial polydactyly, Glossoptosis, Oligodontia, Short palm, Abnormal vertebral seg...	ORPHA:90652
Zechi-Ceide Syndrome	Mandibular prognathia, Sandal gap, Cleft lip, Short metatarsal, Cleft palate, Abnormal heart morp...	ORPHA:217017
Arthrogryposis, Distal, Type 2A	Joint dislocation, Mandibular prognathia, Dental crowding, Polyhydramnios, Knee flexion contractu...	OMIM:193700
Cerebrooculofacioskeletal Syndrome 1	Delayed eruption of teeth, Rocker bottom foot, Coxa valga, Carious teeth, Micrognathia, Flexion c...	OMIM:214150
Adams-Oliver Syndrome 4	Ventricular septal defect, Short toe, Absent middle phalanx of the 3rd toe, Aplasia of the middle...	OMIM:615297
Kleefstra Syndrome 1	Mandibular prognathia, Natal tooth, Single transverse palmar crease, Persistence of primary teeth...	OMIM:610253
Bardet-Biedl Syndrome 10	Polydactyly	OMIM:615987
Cousin Syndrome	Micrognathia, Prominent protruding coccyx, Hypoplastic iliac wing, Clinodactyly of the 5th finger...	OMIM:260660
Ivic Syndrome	Limited elbow movement, Preaxial polydactyly, Pectoralis major hypoplasia, Triphalangeal thumb, H...	OMIM:147750
Contractures, Pterygia, And Spondylocarpotarsal Fusion Syndrome 1A	Hip contracture, Vertebral fusion, Inguinal hernia, Ventricular septal defect, Tarsal synostosis,...	OMIM:178110
Arthrogryposis, Distal, Type 3	Decreased muscle mass, Congenital hip dislocation, Overlapping toe, Single transverse palmar crea...	OMIM:114300
Limb-Mammary Syndrome	Hallux valgus, Syndactyly, Split hand, Cleft palate, Split foot, Hypodontia, Camptodactyly, Joint...	OMIM:603543
Temple Syndrome Due To Paternal 14Q32.2 Microdeletion	Micrognathia, Acromicria, Small hand, Abnormal heart morphology, Short foot, Downturned corners o...	ORPHA:254525
Tumoral Calcinosis, Hyperphosphatemic, Familial, 2	Radial bowing	OMIM:617993
Megalencephaly-Polymicrogyria-Postaxial Polydactyly-Hydrocephalus Syndrome	Ventricular septal defect, Postaxial hand polydactyly, Mitral regurgitation, Abnormal cardiac sep...	ORPHA:83473
Metaphyseal Anadysplasia	Bowing of the long bones, Abnormal morphology of ulna, Joint stiffness, Abnormality of the lower ...	ORPHA:1040
Beck-Fahrner Syndrome	Pes planus, Ventricular septal defect, Facial hypotonia, Cardiomegaly, Accelerated skeletal matur...	OMIM:618798
Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum	Arthropathy, Osteopenia, Bicuspid aortic valve, Abnormal hand morphology, Osteolysis involving bo...	ORPHA:371428
Frank-Ter Haar Syndrome	Osteopenia, Flat occiput, Micrognathia, Secundum atrial septal defect, Brachycephaly, High palate...	OMIM:249420
Poland Syndrome	Syndactyly, Unilateral oligodactyly, Unilateral absence of pectoralis major muscle, Dextrocardia,...	OMIM:173800
Eiken Syndrome	Delayed epiphyseal ossification, Eruption failure, Pseudoepiphyses, Oligodontia, Delayed tarsal o...	OMIM:600002
Neu-Laxova Syndrome 1	Micromelia, Swollen lip, Micrognathia, Polyhydramnios, Calcaneovalgus deformity, Neonatal death, ...	OMIM:256520
Short Stature-Micrognathia Syndrome	Joint laxity, Rhizomelia, Ventricular septal defect, Bowing of the legs, Coxa valga, Micrognathia...	OMIM:617164
Roberts Syndrome	Aplasia/Hypoplasia of the thumb, Proximal placement of thumb, Micrognathia, Polyhydramnios, Brach...	ORPHA:3103
Mohr Syndrome	Micrognathia, Hypoplasia of the maxilla, Lobulated tongue, High palate, Short palm, Clinodactyly ...	OMIM:252100
Al-Gazali-Bakalinova Syndrome	Epiphyseal dysplasia, Inguinal hernia, Enlarged joints, Frontal bossing, Tapered finger, Lymphede...	OMIM:607131
Developmental Delay With Variable Neurologic And Brain Abnormalities	Down-sloping shoulders, Micrognathia, Knee flexion contracture, Widely spaced teeth, Camptodactyl...	OMIM:619694
Cardiac-Valvular Ehlers-Danlos Syndrome	Joint dislocation, Dental crowding, Genu recurvatum, Calcaneovalgus deformity, Absent phalangeal ...	ORPHA:230851
Hypophosphatasia, Childhood	Frontal bossing, Craniosynostosis, Premature loss of primary teeth, Carious teeth, Bowing of the ...	OMIM:241510
Acromesomelic Dysplasia 2A	Hypoplasia of the ulna, Short humerus, Short femur, Aplasia/Hypoplasia of the patella, Postaxial ...	OMIM:200700
Congenital Contractures Of The Limbs And Face, Hypotonia, And Developmental Delay	11 pairs of ribs, Hip contracture, Pursed lips, Inguinal hernia, Micrognathia, Metatarsus adductu...	OMIM:616266
Holt-Oram Syndrome	Finger syndactyly, Atrial septal defect, Paroxysmal atrial fibrillation, Ventricular septal defec...	ORPHA:392
Congenital Myopathy 12	Arachnodactyly, Polyhydramnios, Dolichocephaly, High, narrow palate, Jaw contracture, Scaphocepha...	OMIM:612540
Autosomal Dominant Robinow Syndrome	Micromelia, Micrognathia, High, narrow palate, Abnormality of the gingiva, Coxa vara, Downturned ...	ORPHA:3107
Multiple Epiphyseal Dysplasia, Lowry Type	Epiphyseal dysplasia, Brachydactyly, Rhizomelia, Micrognathia, Cleft hard palate, Delayed epiphys...	ORPHA:166016
Epiphyseal Dysplasia, Multiple, With Early-Onset Diabetes Mellitus	Epiphyseal dysplasia, Shortening of all middle phalanges of the fingers, Ivory epiphyses of the t...	OMIM:226980
Intellectual Disability-Obesity-Brain Malformations-Facial Dysmorphism Syndrome	Thin upper lip vermilion, Tapered finger, Brachycephaly, Downturned corners of mouth, Clinodactyl...	ORPHA:352530
Teebi-Shaltout Syndrome	Syndactyly, Turricephaly, Ulnar deviation of the hand, Ventricular septal defect, Single transver...	OMIM:272950
Filippi Syndrome	Ventricular septal defect, Single transverse palmar crease, 2-4 toe syndactyly, Cutaneous syndact...	OMIM:272440
Pulmonary Capillary Hemangiomatosis	Pulmonary edema, Diffuse alveolar hemorrhage, Right ventricular failure, Pericardial effusion, Me...	ORPHA:199241
Rubinstein-Taybi Syndrome 2	Syndactyly, Broad hallux, Intestinal malrotation, Micrognathia, Carious teeth, Talon cusp, Dental...	OMIM:613684
Cleft Lip/Palate-Intestinal Malrotation-Cardiopathy Syndrome	Flat occiput, Intestinal malrotation, Micrognathia, Bilateral cleft lip and palate, Hypoplastic l...	ORPHA:2001
Santos Syndrome	Syndactyly, Postaxial polydactyly, Metatarsus adductus, Preaxial polydactyly, Genu valgum, Polyda...	OMIM:613005
Agenesis Of The Corpus Callosum With Peripheral Neuropathy	Skeletal muscle atrophy, Tapered finger, Hypoplasia of the maxilla, Long fingers, Flexion contrac...	OMIM:218000
Brachydactyly-Preaxial Hallux Varus Syndrome	Frontal bossing, Short metacarpal, Micrognathia, Preaxial hand polydactyly, Radial club hand, Sho...	ORPHA:1278
Nestor-Guillermo Progeria Syndrome	Dental crowding, Limited elbow movement, Micrognathia, Flexion contracture, Rib osteolysis, Micro...	OMIM:614008
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type	Short palm, Frontal bossing, Rhizomelia, Micrognathia, Metaphyseal chondrodysplasia, Abnormality ...	ORPHA:163966
Stüve-Wiedemann Syndrome	Osteopenia, Micromelia, Metaphyseal widening, Flexion contracture, Knee flexion contracture, Smoo...	ORPHA:3206
Craniosynostosis 2	Bicoronal synostosis, Frontal bossing, Turricephaly, Cleft soft palate, Craniosynostosis, Trigono...	OMIM:604757
Marden-Walker Syndrome	Decreased muscle mass, Inguinal hernia, Arachnodactyly, Dextrocardia, Micrognathia, High, narrow ...	OMIM:248700
Microlissencephaly-Micromelia Syndrome	11 pairs of ribs, Bilateral single transverse palmar creases, Palpebral edema, Micromelia, Polyhy...	ORPHA:50810
Fibulo-Ulnar Hypoplasia-Renal Anomalies Syndrome	Hypoplasia of the ulna, Finger syndactyly, Frontal bossing, Ventricular septal defect, Polyhydram...	ORPHA:2256
Dent Disease 1	Bulging epiphyses, Enlargement of the ankles, Osteomalacia, Recurrent fractures, Bowing of the le...	OMIM:300009
Tarp Syndrome	Single transverse palmar crease, Micrognathia, Glossoptosis, High palate, Atrial septal defect, N...	OMIM:311900
Chromosome 2Q35 Duplication Syndrome	Sagittal craniosynostosis, 2-3 toe syndactyly, Cutaneous syndactyly, 3-4 finger syndactyly, Dista...	OMIM:185900
16P13.11 Microduplication Syndrome	Pes planus, Ventricular septal defect, Arachnodactyly, Craniosynostosis, Joint hyperflexibility, ...	ORPHA:261243
Orofaciodigital Syndrome Ix	Toe syndactyly, Median cleft lip, Accessory oral frenulum, Abnormality of the dentition, Cleft pa...	OMIM:258865
Congenital Disorder Of Glycosylation, Type Iig	Osteopenia, Single transverse palmar crease, Micrognathia, Glossoptosis, High palate, Rhizomelia,...	OMIM:611209
Oculofaciocardiodental Syndrome	Oligodontia, Fused teeth, Clinodactyly of the 5th finger, Short thumb, 2-3 toe syndactyly, Flexio...	ORPHA:2712
Bardet-Biedl Syndrome 4	Syndactyly, Abnormality of the dentition, Polydactyly, Brachydactyly	OMIM:615982
Stevenson-Carey Syndrome	Pierre-Robin sequence, Brachycephaly, Downturned corners of mouth, Hip dysplasia, Narrow mouth, A...	OMIM:611961
Trigonocephaly-Short Stature-Developmental Delay Syndrome	Inguinal hernia, Ventricular septal defect, Fifth finger distal phalanx clinodactyly, Metopic sut...	ORPHA:3369
Chromosome 3Q13.31 Deletion Syndrome	Proximal placement of thumb, Brachycephaly, Plagiocephaly, High palate, Short philtrum, Dolichoce...	OMIM:615433
Sonoda Syndrome	High axial triradius, Ventricular septal defect, Narrow mouth	OMIM:270460
Polydactyly, Preaxial Iv	Duplication of thumb phalanx, Preaxial polydactyly, Dysplastic distal thumb phalanges with a cent...	OMIM:174700
Acropectorovertebral Dysplasia	Finger syndactyly, Camptodactyly of finger, Tarsal synostosis, High, narrow palate, Cleft palate,...	ORPHA:957
Peroxisome Biogenesis Disorder 2A (Zellweger)	Turricephaly, Palpebral edema, Single transverse palmar crease, Micrognathia, Metatarsus adductus...	OMIM:214110
Enthesitis-Related Juvenile Idiopathic Arthritis	Abnormal metatarsal morphology, Knee osteoarthritis, Enthesitis, Abnormal shoulder morphology, Ab...	ORPHA:85438
Autosomal Recessive Amelia	Polyhydramnios, Micrognathia, Non-midline cleft lip, Orofacial cleft, Abnormal cardiac septum mor...	ORPHA:1027
Cutis Laxa, Autosomal Recessive, Type Iie	Joint laxity, Syndactyly, Inguinal hernia, Craniosynostosis, Thick lower lip vermilion, Genu varu...	OMIM:619451
Aarskog-Scott Syndrome	Genu recurvatum, Single transverse palmar crease, Hypoplasia of the maxilla, Orofacial cleft, Sho...	ORPHA:915
Bardet-Biedl Syndrome 19	Ventricular septal defect, Mesoaxial hand polydactyly, Postaxial polydactyly, Partial atrioventri...	OMIM:615996
Schinzel-Giedion Syndrome	Micrognathia, Abnormality of the gingiva, Tibial bowing, Anteriorly placed anus, Short philtrum, ...	ORPHA:798
Cog7-Cdg	Micrognathia, Long fingers, Abnormal finger morphology, Abnormal heart morphology, Hepatosplenome...	ORPHA:79333
Diastrophic Dysplasia	Hip contracture, Costal cartilage calcification, Flattened epiphysis, Ulnar deviation of finger, ...	OMIM:222600
2Q23.1 Microdeletion Syndrome	Tented upper lip vermilion, Sandal gap, Macrodontia, Brachycephaly, Hip dysplasia, Everted lower ...	ORPHA:228402
Clark-Baraitser syndrome	Joint laxity, Exaggerated median tongue furrow, Frontal bossing, Genu recurvatum, Tapered finger,...	OMIM:300602
Xk Aprosencephaly Syndrome	Abnormal morphology of the radius, Ventricular septal defect, Polyhydramnios, Narrow mouth, Atria...	ORPHA:3469
Galloway-Mowat Syndrome 7	Hallux valgus, Arachnodactyly, Single transverse palmar crease, Ventricular septal defect, Microg...	OMIM:618348
Emery-Nelson Syndrome	Camptodactyly of finger, Abnormal thumb morphology, Interphalangeal thumb joint contracture, High...	ORPHA:1927
Short Stature-Wormian Bones-Dextrocardia Syndrome	Delayed eruption of teeth, Abnormality of the philtrum, Camptodactyly of finger, Dextrocardia, Mi...	ORPHA:2863
Acrocephalopolydactyly	Genu recurvatum, Oxycephaly, Hepatosplenomegaly, Short long bone, Limb undergrowth, Brachydactyly	ORPHA:221054
Opitz-Kaveggia Syndrome	Multiple joint contractures, Dental crowding, Single transverse palmar crease, Micrognathia, Ante...	OMIM:305450
Orofaciodigital Syndrome Type 5	High, narrow palate, Bifid uvula, Cleft soft palate, Accessory oral frenulum, Supernumerary tooth...	ORPHA:2919
Congenital Heart Defects And Skeletal Malformations Syndrome	Atrial septal defect, Frontal bossing, Pes planus, Arachnodactyly, Dental crowding, Sandal gap, I...	OMIM:617602
Joubert Syndrome 10	Frontal bossing, Deep philtrum, Thick vermilion border, Postaxial polydactyly	OMIM:300804
Congenital Disorder Of Glycosylation, Type Iiy	Brachycephaly, Delayed skeletal maturation, Hip subluxation, Reduced bone mineral density	OMIM:620200
Cerebrooculofacioskeletal Syndrome 4	Rocker bottom foot, Camptodactyly of finger, Micrognathia, Adducted thumb, Flared metaphysis, Hip...	OMIM:610758
Intellectual Disability-Facial Dysmorphism-Hand Anomalies Syndrome	Thin upper lip vermilion, Brachydactyly, Single transverse palmar crease, Bifid distal phalanx of...	ORPHA:370010
Pfeiffer Syndrome	Mandibular prognathia, Finger syndactyly, Syndactyly, Shortening of all middle phalanges of the f...	OMIM:101600
Hypertension And Brachydactyly Syndrome	Short metacarpal, Cone-shaped epiphysis, Hypertension, Short phalanx of finger, Type E brachydactyly	OMIM:112410
Talo-Patello-Scaphoid Osteolysis	Osteolysis of talus, Enlarged joints, Osteolysis of scaphoids, Synovitis, Short 4th metacarpal, O...	ORPHA:50809
Lethal Congenital Contracture Syndrome 10	Omphalocele, Torticollis, Overriding aorta, Ventricular septal defect, Stiff neck, Cardiomegaly, ...	OMIM:617022
Eiken Syndrome	Epiphyseal dysplasia, Absence of the sacrum, Abnormal acetabulum morphology, Abnormal fingertip m...	ORPHA:79106
Nephrotic Syndrome, Type 11	Arachnodactyly, Ventricular septal defect, Micrognathia, Cleft lip, Partial duplication of thumb ...	OMIM:616730
Arthrogryposis Multiplex Congenita-Whistling Face Syndrome	Polyhydramnios, Micrognathia, Joint stiffness, Whistling appearance, Pierre-Robin sequence, Abnor...	ORPHA:1150
Non-Distal Duplication 10Q	Frontal bossing, Micrognathia, Brachycephaly, Joint hyperflexibility, Everted lower lip vermilion...	ORPHA:1695
Coffin-Siris Syndrome 6	Frontal bossing, Wormian bones, Micrognathia, High, narrow palate, Deep philtrum, Cleft palate, P...	OMIM:617808
Schneckenbecken Dysplasia	Hypoplastic scapulae, Nonimmune hydrops fetalis, Dumbbell-shaped long bone, Polyhydramnios, Snail...	OMIM:269250
Weyers Ulnar Ray/Oligodactyly Syndrome	Proximal placement of thumb, Absent thumb, Cleft upper lip, Micrognathia, Hypoplasia of the radiu...	OMIM:602418
Basilicata-Akhtar Syndrome	Short palm, Tented upper lip vermilion, Single transverse palmar crease, Dolichocephaly, Short fo...	OMIM:301032
Polydactyly, Postaxial, Type A8	Postaxial polydactyly, Genu valgum	OMIM:618123
X-Linked Intellectual Disability-Cardiomegaly-Congestive Heart Failure Syndrome	Mandibular prognathia, Atrial flutter, Tricuspid regurgitation, Protruding tongue, Abnormal thumb...	ORPHA:324410
Catel-Manzke Syndrome	Joint dislocation, Single transverse palmar crease, Micrognathia, Glossoptosis, High palate, Clin...	OMIM:616145
Isolated Pierre Robin Syndrome	Glossoptosis, Cleft palate, Micrognathia	ORPHA:718
Jackson-Weiss Syndrome	Mandibular prognathia, Broad hallux phalanx, Frontal bossing, Toe syndactyly, Turricephaly, Hypop...	ORPHA:1540
Baller-Gerold Syndrome	Limited elbow movement, Micrognathia, Brachycephaly, Patellar hypoplasia, Anteriorly placed anus,...	OMIM:218600
Diaphragmatic Defect-Limb Deficiency-Skull Defect Syndrome	Omphalocele, Finger syndactyly, Congenital diaphragmatic hernia, Aplasia/hypoplasia of the humeru...	ORPHA:2141
Larsen Syndrome	Short metatarsal, Knee dislocation, Atrial septal defect, Hypoplastic cervical vertebrae, Joint l...	OMIM:150250
Greig Cephalopolysyndactyly Syndrome	Finger syndactyly, Broad hallux phalanx, Toe syndactyly, Frontal bossing, Craniosynostosis, Conge...	ORPHA:380
Grange Syndrome	Aortic regurgitation, Syndactyly, Ventricular septal defect, Increased susceptibility to fracture...	ORPHA:79094
Chromosome 5Q12 Deletion Syndrome	Long toe, Frontal bossing, Ventricular septal defect, Micrognathia, Long fingers, Increased nucha...	OMIM:615668
Oculodentodigital Dysplasia, Autosomal Recessive	Dental crowding, Micrognathia, Hypoplasia of the maxilla, Brachycephaly, Hypoplasia of the primar...	OMIM:257850
Ghosal Hematodiaphyseal Dysplasia	Craniofacial hyperostosis, Bowing of the long bones, Splenomegaly, Abnormal tibia morphology, Abn...	ORPHA:1802
Growth Retardation, Developmental Delay, And Facial Dysmorphism	Ventricular septal defect, Protruding tongue, Alveolar ridge overgrowth, Cleft palate, Drumstick ...	OMIM:612938
Bent Bone Dysplasia Syndrome 2	Osteopenia, Atrial septal defect, Ulnar deviation of the hand, Bowed humerus, Ulnar bowing, Femor...	OMIM:620076
Temtamy Preaxial Brachydactyly Syndrome	Abnormal spaced incisors, Micrognathia, Hypoplasia of the maxilla, Widely-spaced maxillary centra...	ORPHA:363417
Stiff Skin Syndrome	Bicuspid aortic valve, Lipodystrophy, Elbow flexion contracture, Limited shoulder movement, Knee ...	OMIM:184900
Cleft Palate, Cardiac Defects, And Impaired Intellectual Development	Thin upper lip vermilion, Short 2nd finger, Sandal gap, Broad hallux, Tented upper lip vermilion,...	OMIM:600987
Orofaciodigital Syndrome Type 2	Micrognathia, Complete duplication of hallux phalanx, Finger clinodactyly, High palate, Short tib...	ORPHA:2751
Thumb Deformity-Alopecia-Pigmentation Anomaly Syndrome	Finger syndactyly, Abnormal dental morphology, Camptodactyly of finger, Short thumb, Palmoplantar...	ORPHA:2251
Mucolipidosis Ii Alpha/Beta	Osteopenia, Cardiomegaly, Micrognathia, Metaphyseal widening, Progressive alveolar ridge hypertro...	OMIM:252500
Acrootoocular Syndrome	Decreased palmar creases, Abnormal finger flexion crease, Micrognathia, High, narrow palate, Anod...	ORPHA:2980
Aphalangia, Partial, With Syndactyly And Duplication Of Metatarsal Iv	Aplasia/Hypoplasia of toe, Syndactyly, Duplication of metatarsal bones, Cutaneous finger syndactyly	OMIM:600384
Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 2	Osteopenia, Hip contracture, Thin upper lip vermilion, Frontal bossing, Facial hypotonia, Tapered...	OMIM:616801
Contractures-Developmental Delay-Pierre Robin Syndrome	Inguinal hernia, Arachnodactyly, Overlapping toe, Micrognathia, Metatarsus adductus, Short thumb,...	ORPHA:436003
Hydrops Fetalis	Nonimmune hydrops fetalis, Polyhydramnios, Lymphedema, Pericardial effusion, Abnormality of the l...	ORPHA:1041
Burn-Mckeown Syndrome	Mandibular prognathia, Inguinal hernia, Ventricular septal defect, Cleft upper lip, Micrognathia,...	OMIM:608572
Congenital Muscular Dystrophy, Ullrich Type	Long toe, Torticollis, Micrognathia, Abnormal muscle fiber morphology, Flexion contracture, Hip d...	ORPHA:75840
Craniodigital-Intellectual Disability Syndrome	Finger syndactyly, Brachycephaly, Micrognathia	ORPHA:1514
Congenital Disorder Of Glycosylation, Type Iia	Mandibular prognathia, Osteopenia, Pes planus, Macrodontia, Ventricular septal defect, Proximal p...	OMIM:212066
Chromosome 9P Deletion Syndrome	Micrognathia, High, narrow palate, Deep philtrum, High palate, Atrial septal defect, Long toe, Ta...	OMIM:158170
Multiple Osteochondromas	Deformed radius, Abnormal hand morphology, Abnormal tibia morphology, Metaphyseal widening, Abnor...	ORPHA:321
Immunodeficiency 43	Hypoplasia of the ulna, Radial bowing	OMIM:241600
Summitt Syndrome	Finger syndactyly, Prominent metopic ridge, Camptodactyly of finger, Craniosynostosis, Genu valgu...	ORPHA:3210
Sclerosteosis	Finger syndactyly, Increased bone mineral density, Craniofacial hyperostosis, Facial palsy, 2-3 f...	ORPHA:3152
Syndactyly, Mesoaxial Synostotic, With Phalangeal Reduction	Aplasia/Hypoplasia of the thumb, Single transverse palmar crease, Aplasia/Hypoplasia of the middl...	OMIM:609432
Osteogenesis Imperfecta	Osteopenia, Abnormality of dental color, Micromelia, Micrognathia, Abnormal tibia morphology, Ost...	ORPHA:666
Osteopathia Striata With Cranial Sclerosis	Dental crowding, Polyhydramnios, Micrognathia, Osteopathia striata, Craniofacial osteosclerosis, ...	OMIM:300373
Wieacker-Wolff Syndrome	U-Shaped upper lip vermilion, Facial palsy, Proximal placement of thumb, Micrognathia, Hip disloc...	OMIM:314580
Weill-Marchesani Syndrome 1	Ventricular septal defect, Joint stiffness, Hypoplasia of the maxilla, Broad skull, Broad palm, N...	OMIM:277600
Becker Nevus Syndrome	Lipoatrophy, Micromelia, Lower limb asymmetry, Abnormal tibia morphology, Upper limb asymmetry, S...	ORPHA:64755
Orofaciodigital Syndrome V	Thin upper lip vermilion, Frontal bossing, Median cleft lip, Sandal gap, Aganglionic megacolon, P...	OMIM:174300
2Q24 Microdeletion Syndrome	Toe syndactyly, Camptodactyly of finger, Long fingers, Bullet-shaped distal phalanx of the hallux...	ORPHA:1617
Severe Achondroplasia-Developmental Delay-Acanthosis Nigricans Syndrome	Metaphyseal chondrodysplasia, Tibial bowing, Femoral bowing, Aplasia/Hypoplasia of the mandible, ...	ORPHA:85165
Histiocytosis-Lymphadenopathy Plus Syndrome	Cardiomegaly, Joint contracture of the 5th finger, Atrial septal defect, Hepatosplenomegaly, Lymp...	OMIM:602782
9Q21.13 Microdeletion Syndrome	Talipes, Craniosynostosis, Abnormal tongue morphology, Abnormal heart morphology, Downturned corn...	ORPHA:531151
Satb2-Associated Syndrome Due To A Pathogenic Variant	Osteopenia, Thin upper lip vermilion, Joint hypermobility, Abnormality of the hand, Abnormality o...	ORPHA:576283
Wt Limb-Blood Syndrome	Ulnar deviation of the 3rd finger, Absent thumb, Micrognathia, Short thumb, Radioulnar synostosis...	OMIM:194350
Stickler Syndrome, Type Ii	Arthropathy, Arachnodactyly, Micrognathia, Long fingers, High, narrow palate, Pierre-Robin sequen...	OMIM:604841
Smith-Mccort Dysplasia 2	Mandibular prognathia, Pes planus, Short metacarpal, Enlarged interphalangeal joints, Broad femor...	OMIM:615222
Distal Deletion 10Q	Single transverse palmar crease, Micrognathia, 2-3 toe cutaneous syndactyly, Short metatarsal, Br...	ORPHA:96148
Alopecia-Contractures-Dwarfism Mental Retardation Syndrome	Generalized hypoplasia of dental enamel, Turricephaly, Carious teeth, Flexion contracture, Hip di...	OMIM:203550
Summitt Syndrome	Syndactyly, Oxycephaly, Craniosynostosis	OMIM:272350
Epilepsy, Progressive Myoclonic, 9	Short thumb, Microglossia, Generalized amyotrophy	OMIM:616540
Spondyloepiphyseal Dysplasia, Kondo-Fu Type	Inguinal hernia, Reduced bone mineral density, Delayed ossification of carpal bones, Short femora...	OMIM:618392
Meckel Syndrome, Type 10	Frontal bossing, Ulnar deviation of the hand, Postaxial polydactyly, Postaxial hand polydactyly, ...	OMIM:614175
Andersen Cardiodysrhythmic Periodic Paralysis	Dental crowding, Micrognathia, Hypoplasia of the maxilla, Short metatarsal, Oligodontia, High pal...	OMIM:170390
Orofaciodigital Syndrome Type 6	Syndactyly, Mesoaxial polydactyly, Frontal bossing, Hamartoma of tongue, Micrognathia, Central Y-...	ORPHA:2754
Abruzzo-Erickson Syndrome	Toe syndactyly, Short toe, Cleft palate, Ulnar deviation of finger, Radioulnar synostosis, Atrial...	ORPHA:921
Spondyloepimetaphyseal Dysplasia Congenita, Strudwick Type	Abnormally ossified vertebrae, Restricted large joint movement, Micrognathia, Carious teeth, Hypo...	ORPHA:93346
C Syndrome	Joint dislocation, Micromelia, Micrognathia, Congenital diaphragmatic hernia, Polyhydramnios, Hig...	ORPHA:1308
48,Xxxy Syndrome	Delayed eruption of teeth, Mandibular prognathia, Inguinal hernia, Pes planus, Down-sloping shoul...	ORPHA:96263
Frontometaphyseal Dysplasia	Single transverse palmar crease, Limited elbow movement, Micrognathia, Metaphyseal widening, Shor...	ORPHA:1826
Camptodactyly-Arthropathy-Coxa Vara-Pericarditis Syndrome	Flattened metatarsal heads, Arthropathy, Generalized morning stiffness, Coxa vara, Arthritis, Con...	OMIM:208250
Ulna Metaphyseal Dysplasia Syndrome	Abnormal dental morphology, Abnormal morphology of ulna, Abnormality of the dentition, Delayed sk...	ORPHA:1837
Bartsocas-Papas Syndrome 1	Micrognathia, Hypoplasia of the maxilla, Flexion contracture, Hypoplastic iliac wing, Pterygium, ...	OMIM:263650
Weill-Marchesani Syndrome 2	Hypoplasia of the maxilla, Broad skull, Short metatarsal, Brachycephaly, High palate, Broad metac...	OMIM:608328
Aphalangy-Syndactyly-Microcephaly Syndrome	Toe syndactyly, Camptodactyly of finger, Aplasia/Hypoplasia of the distal phalanges of the toes, ...	ORPHA:1113
Autosomal Recessive Hypophosphatemic Rickets	Delayed eruption of teeth, Increased bone mineral density, Osteomalacia, Craniosynostosis, Malabs...	ORPHA:289176
Arthrogryposis, Distal, Type 4	Osteopenia, 2-5 finger cutaneous syndactyly, Torticollis, Single transverse palmar crease, Equino...	OMIM:609128
Congenital Unilateral Hypoplasia Of Depressor Anguli Oris	Ventricular septal defect, Congenital diaphragmatic hernia, Micrognathia, Joint stiffness, Cleft ...	ORPHA:1166
Mesoaxial Synostotic Syndactyly With Phalangeal Reduction	Finger syndactyly, Toe syndactyly, Short hallux, Aplasia/Hypoplasia of the middle phalanges of th...	ORPHA:157801
Hunter-Macdonald Syndrome	Bicuspid aortic valve, Brachycephaly, Pseudoepiphyses, Short philtrum, Clinodactyly of the 5th fi...	OMIM:611962
Desbuquois Dysplasia 2	Dental crowding, Single transverse palmar crease, Metaphyseal widening, Knee dislocation, Short p...	OMIM:615777
Epiphyseal Dysplasia-Hearing Loss-Dysmorphism Syndrome	Finger syndactyly, Proximal placement of thumb, Abnormal thumb morphology, Deep philtrum, Delayed...	ORPHA:1825
Laurence-Moon Syndrome	Finger syndactyly, Bilateral single transverse palmar creases, Brachycephaly, Hand polydactyly, B...	ORPHA:2377
Down Syndrome	Joint laxity, Sandal gap, Bilateral single transverse palmar creases, Aganglionic megacolon, Prot...	ORPHA:870
Poems Syndrome	Sclerosis of hand bone, Lipodystrophy, Sclerosis of foot bone, Edema, Metaphyseal sclerosis, Peri...	ORPHA:2905
Shprintzen-Goldberg Craniosynostosis Syndrome	Osteopenia, Genu recurvatum, Micrognathia, Hypoplasia of the maxilla, Metaphyseal widening, High ...	OMIM:182212
Hyperphosphatasia With Impaired Intellectual Development Syndrome 1	Mandibular prognathia, Thin upper lip vermilion, Tented upper lip vermilion, Aganglionic megacolo...	OMIM:239300
Microcephaly-Cardiac Defect-Lung Malsegmentation Syndrome	Bilateral single transverse palmar creases, Ventricular septal defect, Micrognathia, Joint stiffn...	ORPHA:2516
Kyphoscoliosis-Lateral Tongue Atrophy-Hereditary Spastic Paraplegia Syndrome	Proximal muscle weakness in upper limbs, Tongue atrophy, Upper limb amyotrophy, Knee flexion cont...	ORPHA:496689
Dpm1-Cdg	Tented upper lip vermilion, Sandal gap, Flat occiput, Trigonocephaly, Micrognathia, High, narrow ...	ORPHA:79322
Metaphyseal Chondrodysplasia, Jansen Type	Osteopenia, Hip contracture, Bowing of the long bones, Micrognathia, Metaphyseal chondrodysplasia...	OMIM:156400
Talo-Patello-Scaphoid Osteolysis, Synovitis, And Short Fourth Metacarpals	Osteolysis of talus, Osteolysis of scaphoids, Synovitis, Short 4th metacarpal, Osteolysis of pate...	OMIM:609655
Noonan Syndrome 12	11 pairs of ribs, Ventricular septal defect, Proximal placement of thumb, Polyhydramnios, Anterio...	OMIM:618624
Brachydactyly-Arterial Hypertension Syndrome	Hypertension, Short metacarpal, Short phalanx of finger, Brachydactyly	ORPHA:1276
Alagille Syndrome	Hypoplasia of the ulna, Atrial septal defect, Frontal bossing, Telangiectasia of the skin, Ventri...	ORPHA:52
Split hand/foot malformation 1 (SHFM1)	Toe syndactyly, Median cleft lip, Split hand, 2-3 toe syndactyly, Cleft palate, Cutaneous finger ...	DECIPHER:46
Oculocerebrofacial Syndrome, Kaufman Type	Flat occiput, Arachnodactyly, Long foot, Micrognathia, High, narrow palate, Brachycephaly, Wide m...	ORPHA:2707
Split-Hand/Foot Malformation 4	Syndactyly, Aplasia/Hypoplasia of the phalanges of the hand, Split hand, Aplasia/Hypoplasia of th...	OMIM:605289
Kleefstra Syndrome Due To A Point Mutation	Natal tooth, Inguinal hernia, Abnormality of the dentition, Tapered finger, Thick lower lip vermi...	ORPHA:261652
Distal Limb Deficiencies-Micrognathia Syndrome	Microretrognathia, Aplasia/Hypoplasia of the thumb, Abnormal morphology of ulna, Tarsal synostosi...	ORPHA:1307
Spondyloepiphyseal Dysplasia-Brachydactyly And Distinctive Speech	Delayed epiphyseal ossification, Rhizo-meso-acromelic limb shortening, Flexion contracture, Hypop...	OMIM:611717
White Forelock With Malformations	Finger syndactyly, Atrial septal defect, Deep philtrum, Delayed skeletal maturation, Joint hyperf...	ORPHA:2475
Microcephalic Osteodysplastic Primordial Dwarfism Types I And Iii	Osteopenia, Micromelia, Micrognathia, Abnormal finger morphology, Short palm, Large iliac wing, C...	ORPHA:2636
Ectrodactyly-Polydactyly Syndrome	Finger syndactyly, Camptodactyly of finger, Postaxial hand polydactyly, Symphalangism affecting t...	ORPHA:1892
Seckel Syndrome 7	Delayed skeletal maturation, Abnormal carpal morphology, Madelung deformity, Hip dysplasia, Clino...	OMIM:614851
Congenital Heart Defects, Dysmorphic Facial Features, And Intellectual Developmental Disorder	Thin upper lip vermilion, Atrial septal defect, Short lingual frenulum, Ventricular septal defect...	OMIM:617360
Short-Rib Thoracic Dysplasia 12	Edema, Bowing of the legs, Polyhydramnios, Lobulated tongue, Short palm, Neonatal death, Patent f...	OMIM:269860
Adenylosuccinate Lyase Deficiency	Thin upper lip vermilion, Prominent metopic ridge, Flat occiput, Brachycephaly, Long philtrum, Sm...	ORPHA:46
Cleft Palate-Large Ears-Small Head Syndrome	Skeletal muscle atrophy, Micrognathia, Delayed skeletal maturation, Gingival overgrowth, Cleft pa...	ORPHA:2013
Short-Rib Thoracic Dysplasia 20 With Polydactyly	Micrognathia, Preaxial polydactyly, Brachycephaly, Narrow greater sciatic notch, Neonatal death, ...	OMIM:617925
Multiple Pterygium Syndrome, Escobar Variant	Multiple joint contractures, Congenital diaphragmatic hernia, Micrognathia, Flexion contracture, ...	OMIM:265000
Atrial Septal Defect, Ostium Primum Type	First degree atrioventricular block, Atrioventricular block, Fixed splitting of the second heart ...	ORPHA:99106
Developmental Delay With Variable Intellectual Impairment And Behavioral Abnormalities	Thin upper lip vermilion, Frontal bossing, Tented upper lip vermilion, Sandal gap, Tapered finger...	OMIM:618430
Trichorhinophalangeal Syndrome, Type Iii	Osteopenia, Thin upper lip vermilion, Short metacarpal, Dental crowding, Avascular necrosis of th...	OMIM:190351
Radiohumeral Fusions With Other Skeletal And Craniofacial Anomalies	Arachnodactyly, Craniosynostosis, Humeroradial synostosis, Brachycephaly, Oligodactyly	OMIM:614416
Tetrasomy 15Q26	Microretrognathia, Arachnodactyly, High palate, Camptodactyly, Atrial septal defect	OMIM:614846
Rhizomelic Syndrome	Rhizomelia, Bifid distal phalanx of the thumb, Micrognathia, Hip dislocation, Pulmonic stenosis, ...	OMIM:268250
X-Linked Microcephaly-Growth Retardation-Prognathism-Cryptorchidism Syndrome	Mandibular prognathia, Finger syndactyly, Thin upper lip vermilion, Dental crowding, Single trans...	ORPHA:435938
Congenital Myopathy 15	Osteopenia, Tricuspid regurgitation, Polyhydramnios, Fatty replacement of skeletal muscle, Increa...	OMIM:620161
Richieri-Costa/Guion-Almeida Syndrome	Mandibular prognathia, Cleft upper lip, Brachycephaly, Cleft palate, Palmoplantar cutis laxa, Mal...	OMIM:268850
Three M Syndrome 2	Delayed eruption of teeth, Frontal bossing, Scapular winging, Dolichocephaly, Delayed skeletal ma...	OMIM:612921
Acromesomelic Dysplasia, Maroteaux Type	Frontal bossing, Bowing of the long bones, Joint stiffness, Dolichocephaly, Joint hyperflexibilit...	ORPHA:40
Autosomal Recessive Robinow Syndrome	Tented upper lip vermilion, Micrognathia, Orofacial cleft, Downturned corners of mouth, Short phi...	ORPHA:1507
Chromosome 17P13.1 Deletion Syndrome	Proximal placement of thumb, High, narrow palate, Brachycephaly, Knee flexion contracture, High p...	OMIM:613776
Choanal Atresia And Lymphedema	Pericardial effusion, High palate, Lymphedema	OMIM:613611
Weaver Syndrome	Mandibular prognathia, Short fourth metatarsal, Flat occiput, Single transverse palmar crease, Ac...	OMIM:277590
Acrofrontofacionasal Dysostosis 2	Syndactyly, Broad hallux, Brachycephaly, Hand polydactyly, High palate, Broad thumb	OMIM:239710
Larsen Syndrome	Finger syndactyly, Large joint dislocations, Craniosynostosis, Accessory carpal bones, Cleft pala...	ORPHA:503
Potocki-Shaffer Syndrome	Micrognathia, Parietal foramina, Brachycephaly, Downturned corners of mouth, Hypertension, Short ...	ORPHA:52022
Osteogenesis Imperfecta, Type Xix	Osteopenia, Rhizomelia, Recurrent fractures, Bowing of the legs, Multiple prenatal fractures, Bow...	OMIM:301014
Smith-Magenis Syndrome	Mandibular prognathia, Frontal bossing, Pes planus, Toe syndactyly, Tented upper lip vermilion, D...	ORPHA:819
Multicentric Carpo-Tarsal Osteolysis With Or Without Nephropathy	Camptodactyly of finger, Polyhydramnios, Micrognathia, Wrist swelling, Limitation of joint mobili...	ORPHA:2774
Orofaciodigital Syndrome Xix	Frontal bossing, Toe syndactyly, Broad hallux, Cleft soft palate, Type A brachydactyly, Accessory...	OMIM:620107
Temtamy Syndrome	Pes planus, Micrognathia, Short toe, Thick lower lip vermilion, Genu varum, Joint hyperflexibilit...	ORPHA:1777
49,Xxxxy Syndrome	Delayed eruption of teeth, Mandibular prognathia, Pes planus, Down-sloping shoulders, Abnormal de...	ORPHA:96264
Otospondylomegaepiphyseal Dysplasia, Autosomal Recessive	Epiphyseal dysplasia, Enlarged joints, Large tarsal bones, Micrognathia, Pierre-Robin sequence, F...	OMIM:215150
Intellectual Developmental Disorder, X-Linked, Syndromic, Siderius Type	Long toe, Pes planus, Arachnodactyly, Cleft lip, Cleft palate, Large hands	OMIM:300263
Intellectual Developmental Disorder, Autosomal Dominant 66	Arachnodactyly, Secundum atrial septal defect, Brachycephaly, Plagiocephaly, Transposition of the...	OMIM:619910
Brachydactyly Type B	Type B brachydactyly, Finger syndactyly, Short metacarpal, 2nd-5th toe middle phalangeal hypoplas...	ORPHA:93383
Chondrodysplasia-Difference Of Sex Development Syndrome	Short metacarpal, Broad long bones, Micromelia, Increased skull ossification, Abnormal shoulder m...	ORPHA:1422
Acrocallosal Syndrome	Mandibular prognathia, Downturned corners of mouth, High palate, Short philtrum, Clinodactyly of ...	OMIM:200990
Hamel Cerebro-Palato-Cardiac Syndrome	Arachnodactyly, Micrognathia, Cleft palate, Narrow mouth, Atrial septal defect, Malar flattening	ORPHA:93946
Dysraphism-Cleft Lip/Palate-Limb Reduction Defects Syndrome	Ventricular septal defect, Non-midline cleft lip, Cleft palate, Aplasia/Hypoplasia of the radius,...	ORPHA:2476
Oncogenic Osteomalacia	Abnormal pelvis bone morphology, Abnormality of the tarsal bones, Abnormal foot morphology, Bone ...	ORPHA:352540
Mosaic Trisomy 1	Single transverse palmar crease, Congenital diaphragmatic hernia, Polyhydramnios, Orofacial cleft...	ORPHA:1692
2Q31.1 Microdeletion Syndrome	Micrognathia, Abnormal tibia morphology, Deep philtrum, Downturned corners of mouth, Short palm, ...	ORPHA:251014
Gorlin Syndrome	Mandibular prognathia, Vertebral fusion, Frontal bossing, Arachnodactyly, Palmar pits, Carious te...	ORPHA:377
Microcephaly-Microcornea Syndrome, Seemanova Type	Retrognathia, High palate, Brachycephaly, Narrow mouth	ORPHA:2528
17Q12 Microduplication Syndrome	Finger syndactyly, Toe syndactyly, Polyhydramnios, Tracheoesophageal fistula, Cleft palate, Atria...	ORPHA:261272
Myopathic Ehlers-Danlos Syndrome	Congenital muscular torticollis, Decreased muscle mass, Multiple joint contractures, Micrognathia...	ORPHA:536516
21Q22.11Q22.12 Microdeletion Syndrome	Short proximal phalanx of the 5th finger, Thin upper lip vermilion, Dental crowding, Short proxim...	ORPHA:261323
Mesomelic Dysplasia, Kantaputra Type	Camptodactyly of finger, Tarsal synostosis, Talipes, Abnormality of the humerus, Abnormal fibula ...	ORPHA:1836
Laurin-Sandrow Syndrome	Aplasia/Hypoplasia of the thumb, Finger syndactyly, Toe syndactyly, Tarsal synostosis, Talipes, A...	ORPHA:2378
Hajdu-Cheney Syndrome	Osteopenia, Micrognathia, Absent frontal sinuses, High palate, Premature loss of teeth, Dislocate...	OMIM:102500
Miller-Dieker Lissencephaly Syndrome	Delayed eruption of teeth, Thin upper lip vermilion, Inguinal hernia, Omphalocele, Frontal bossin...	OMIM:247200
Saethre-Chotzen Syndrome	Hypoplasia of the maxilla, Brachycephaly, Partial duplication of the distal phalanx of the 3rd fi...	OMIM:101400
Polymicrogyria With Or Without Vascular-Type Ehlers-Danlos Syndrome	Dental crowding, Joint hypermobility, Micrognathia, Long fingers, Atypical scarring of skin, Atro...	OMIM:618343
Frank-Ter Haar Syndrome	Delayed eruption of teeth, Mandibular prognathia, Inguinal hernia, Genu recurvatum, Camptodactyly...	ORPHA:137834
Verloove Vanhorick-Brubakk Syndrome	Finger syndactyly, Tarsal synostosis, Micrognathia, Non-midline cleft lip, Abnormal femur morphol...	ORPHA:3429
Combined Oxidative Phosphorylation Deficiency 10	Cardiomegaly, Pericardial effusion, Pleural effusion, Bradycardia, Hypertrophic cardiomyopathy, A...	OMIM:614702
Spondylomegaepiphyseal Dysplasia With Upper Limb Mesomelia, Punctate Calcifications, And Deafness	Broad toe, Pes planus, Enlarged metacarpal epiphyses, Enlarged epiphyses of the phalanges of the ...	OMIM:609616
Eem Syndrome	Finger syndactyly, Abnormal dental morphology, Selective tooth agenesis, Carious teeth, Ectrodact...	ORPHA:1897
Cardiospondylocarpofacial Syndrome	High, narrow palate, Mitral valve prolapse, Mitral regurgitation, Short palm, Failure of eruption...	ORPHA:3238
Cornelia De Lange Syndrome	Micromelia, Proximal placement of thumb, Micrognathia, Congenital diaphragmatic hernia, Brachycep...	ORPHA:199
Down Syndrome	Single transverse palmar crease, Brachycephaly, Hypoplastic iliac wing, Atrial septal defect, Sho...	OMIM:190685
Intellectual Developmental Disorder, X-Linked 99, Syndromic, Female-Restricted	Joint laxity, Postaxial polydactyly, Tapered finger, Abnormality of the dentition, Lower limb asy...	OMIM:300968
Ischiocoxopodopatellar Syndrome With Or Without Pulmonary Arterial Hypertension	Pes planus, Wide capital femoral epiphyses, Short femur, Sandal gap, Tarsal synostosis, Micrognat...	OMIM:147891
Woods Syndrome	Ventricular septal defect, Single transverse palmar crease, 3-4 finger cutaneous syndactyly, Thin...	OMIM:615236
3C Syndrome	Micrognathia, High, narrow palate, Orofacial cleft, Abnormal tricuspid valve morphology, Atrial s...	ORPHA:7
Proximal Symphalangism	Finger syndactyly, Brachydactyly, Camptodactyly of finger, Tarsal synostosis, Elbow dislocation, ...	ORPHA:3250
Angel-Shaped Phalangoepiphyseal Dysplasia	Hyperextensibility of the finger joints, Pseudoepiphyses of the metacarpals, Premature osteoarthr...	OMIM:105835
Intellectual Developmental Disorder With Behavioral Abnormalities And Craniofacial Dysmorphism With Or Without Seizures	Clinodactyly of the 5th finger, Syndactyly, Plagiocephaly, Tapered finger	OMIM:618725
Jansen-De Vries Syndrome	Thin upper lip vermilion, Bicuspid aortic valve, Ventricular septal defect, Parietal foramina, Ce...	OMIM:617450
Aase-Smith Syndrome I	Ventricular septal defect, Flexion contracture, Cleft palate, Talipes equinovarus, Open mouth, Sl...	OMIM:147800
Kbg Syndrome	Thin upper lip vermilion, Persistent open anterior fontanelle, Vertebral fusion, Macrodontia, Sin...	ORPHA:2332
Autosomal Spastic Paraplegia Type 18	Hip contracture, Ankle flexion contracture, Neck joint contracture, Flexion contracture, Elbow fl...	ORPHA:209951
Spastic Paraplegia 20, Autosomal Recessive	Pes cavus, Ulnar deviation of the hand, Flexion contracture, Hyperextensible hand joints, Short f...	OMIM:275900
Coffin-Siris Syndrome 2	Delayed eruption of teeth, Inguinal hernia, Sandal gap, Delayed skeletal maturation, Thick lower ...	OMIM:614607
Mucolipidosis Iii Alpha/Beta	Aortic regurgitation, Mandibular prognathia, Soft tissue swelling of interphalangeal joints, Cran...	OMIM:252600
Robin Sequence With Cleft Mandible And Limb Anomalies	Proximal placement of thumb, Micrognathia, Aplasia of the epiglottis, High palate, Clinodactyly o...	OMIM:268305
Chromosome 5P13 Duplication Syndrome	Frontal bossing, Turricephaly, Single transverse palmar crease, Craniosynostosis, Long fingers, B...	OMIM:613174
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 1	11 pairs of ribs, Thin upper lip vermilion, Osteopenia, Sandal gap, Dental crowding, Short toe, P...	OMIM:617877
Chromosome 15Q26-Qter Deletion Syndrome	Micrognathia, Abnormal cardiac septum morphology, Short middle phalanx of finger, Talipes equinov...	OMIM:612626
Trichohepatoneurodevelopmental Syndrome	Dental crowding, Polyhydramnios, Brachycephaly, Downturned corners of mouth, High palate, Widely ...	OMIM:618268
Glycogen Storage Disease Of Heart, Lethal Congenital	Prolonged QRS complex, Cardiomegaly, Pericardial effusion, Shortened PR interval, Cardiomyopathy,...	OMIM:261740
Retinitis Pigmentosa 89	Bicuspid aortic valve, Esophageal varix, Postaxial polydactyly, Hepatosplenomegaly	OMIM:618955
Partington Syndrome	Flexion contracture, Camptodactyly	OMIM:309510
Smith-Lemli-Opitz Syndrome	Dental crowding, Micromelia, Proximal placement of thumb, Micrognathia, 2-3 toe cutaneous syndact...	OMIM:270400
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 3	Osteopenia, Hypoplasia of the ulna, Abnormality of the dentition, Deep philtrum, Delayed skeletal...	OMIM:615398
Trisomy 20P	Micrognathia, Brachycephaly, Reduced bone mineral density, Downturned corners of mouth, Short phi...	ORPHA:261318
Brachydactyly-Elbow Wrist Dysplasia Syndrome	Brachydactyly, Abnormal distal phalanx morphology of finger, Abnormal morphology of ulna, Joint s...	ORPHA:1275
Van Maldergem Syndrome 1	Osteopenia, Irregular dentition, Short fourth metatarsal, Tented upper lip vermilion, Micrognathi...	OMIM:601390
Orofaciodigital Syndrome Xv	Broad hallux, Postaxial hand polydactyly, Duplication of phalanx of hallux, Midline notch of uppe...	OMIM:617127
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia	Hypoplastic pubic ramus, Proximal placement of thumb, Micrognathia, Short metatarsal, Hand monoda...	OMIM:609945
Neurodegeneration, Childhood-Onset, With Multisystem Involvement Due To Mitochondrial Dysfunction	Skeletal muscle atrophy, Micrognathia, Pericardial effusion, Cardiomyopathy, High palate	OMIM:620089
Takenouchi-Kosaki Syndrome	Thin upper lip vermilion, Inguinal hernia, Overlapping toe, Proximal placement of thumb, Tapered ...	OMIM:616737
Weill-Marchesani Syndrome	Ventricular septal defect, Short thumb, Limitation of joint mobility, Mitral regurgitation, Pulmo...	ORPHA:3449
Congenital Disorder Of Glycosylation, Type Ih	Edema, Perimembranous ventricular septal defect, Protein-losing enteropathy, Talipes equinovarus,...	OMIM:608104
Hypogonadism-Mitral Valve Prolapse-Intellectual Disability Syndrome	Mitral valve prolapse, High palate, Abnormal morphology of ulna, Abnormal metacarpal morphology	ORPHA:2233
Intellectual Developmental Disorder, Autosomal Dominant 44, With Microcephaly	Thin upper lip vermilion, Scapular winging, Atrial septal defect, Sandal gap, Single transverse p...	OMIM:617061
Tarsal-Carpal Coalition Syndrome	Tarsal synostosis, Humeroradial synostosis, Progressive fusion 2nd-5th pip joints, Short finger, ...	OMIM:186570
Coloboma Of Macula And Skeletal Anomalies	Hallux valgus, Coxa valga, Cleft palate, Contracture of the distal interphalangeal joint of the 5...	OMIM:216800
Qazi-Markouizos Syndrome	Dysharmonic bone age, Torticollis, Tapered finger, High, narrow palate, Hypoplasia of teeth, Dela...	ORPHA:3010
Myopathy, Centronuclear, 5	Hip contracture, Micrognathia, Centrally nucleated skeletal muscle fibers, Dilated cardiomyopathy...	OMIM:615959
Cerebrofacioarticular Syndrome	Osteopenia, Irregular dentition, Syndactyly, Anal stenosis, Micrognathia, Lymphedema, Narrow mout...	ORPHA:314679
Carpenter Syndrome 2	Single transverse palmar crease, High, narrow palate, Preaxial polydactyly, Brachycephaly, Coxa v...	OMIM:614976
Lethal Acantholytic Erosive Disorder	Natal tooth, Cardiomegaly, 4-5 finger syndactyly, 2-3 finger syndactyly, Cleft palate, Impaired m...	ORPHA:158687
Spondylometaphyseal Dysplasia, Kozlowski Type	Enlarged joints, Irregular, rachitic-like metaphyses, Hypoplasia of the odontoid process, Delayed...	OMIM:184252
Congenital Pulmonary Lymphangiectasia	Tricuspid regurgitation, Congestive heart failure, Splenomegaly, Hydrops fetalis, Chylopericardiu...	ORPHA:2414
Epiphyseal Dysplasia, Multiple, With Myopia And Conductive Deafness	Epiphyseal dysplasia, Coxa valga, Genu valgum, Narrow mouth, Short phalanx of finger, Brachydactyly	OMIM:132450
Ventricular Extrasystoles With Syncope, Perodactyly, And Robin Sequence	Tachycardia, Posteriorly placed tongue, Aplasia/Hypoplasia of the distal phalanges of the toes, P...	OMIM:192445
Dysplastic Cortical Hyperostosis, Kozlowski-Tsuruta Type	Increased bone mineral density, Polyhydramnios, Splenomegaly, Abnormal limb bone morphology, Hydr...	ORPHA:2204
Cerebrooculonasal Syndrome	Postaxial hand polydactyly, Brachycephaly, High palate, Widely spaced teeth, Solitary median maxi...	ORPHA:66625
Ayme-Gripp Syndrome	Smooth philtrum, Thin upper lip vermilion, Pericarditis, Mandibular prognathia, Delayed cranial s...	OMIM:601088
Cohen Syndrome	Micrognathia, Hypoplasia of the maxilla, High, narrow palate, Short philtrum, Clinodactyly of the...	ORPHA:193
Hyperphosphatasia-Intellectual Disability Syndrome	Mandibular prognathia, Tented upper lip vermilion, Aganglionic megacolon, Micrognathia, Brachycep...	ORPHA:247262
Codas Syndrome	Congenital hip dislocation, Proximal placement of thumb, Polyhydramnios, Broad skull, Generalized...	OMIM:600373
Craniofacial Abnormalities, Cataracts, Congenital Heart Disease, Sacral Neural Tube Defects, And Growth And Developmental Retardation	Ventricular septal defect, Micrognathia, Delayed skeletal maturation, Thick lower lip vermilion, ...	OMIM:608227
Hirschsprung Disease, Cardiac Defects, And Autonomic Dysfunction	Tachycardia, Aganglionic megacolon, Ventricular septal defect, Tapered finger, Flexion contractur...	OMIM:613870
Congenital Myopathy 20	Skeletal muscle atrophy, Scapular winging, Ulnar deviation of the hand, Elbow contracture, Toe jo...	OMIM:620310
Orofaciodigital Syndrome I	Lobulated tongue, High palate, Microretrognathia, Syndactyly, Hamartoma of tongue, Cleft upper li...	OMIM:311200
8Q24.3 Microdeletion Syndrome	Congenital hip dislocation, Single transverse palmar crease, Micromelia, Cleft maxillary alveolar...	ORPHA:508488
Distal Deletion 3P	Inguinal hernia, Micrognathia, Postaxial hand polydactyly, Brachycephaly, Cleft palate, Downturne...	ORPHA:1620
Congenital Gerbode Defect	Pedal edema, Holosystolic murmur, Bacterial endocarditis, Abnormal tricuspid valve leaflet morpho...	ORPHA:99095
Martsolf Syndrome 2	Overlapping toe, Camptodactyly of finger, Camptodactyly	OMIM:619420
Timothy Syndrome	Prolonged QT interval, Thin upper lip vermilion, Ventricular septal defect, Cardiomegaly, Ventric...	OMIM:601005
Xy Type Gonadal Dysgenesis-Associated Anomalies Syndrome	Abnormality of the philtrum, Bilateral single transverse palmar creases, Ventricular septal defec...	ORPHA:1770
Frontometaphyseal Dysplasia 2	Decreased muscle mass, Congenital hip dislocation, Bicuspid aortic valve, Elbow contracture, Deep...	OMIM:617137
Mandibuloacral Dysplasia Progeroid Syndrome	Osteopenia, Micrognathia, Flexion contracture, Brachycephaly, Palmoplantar hyperkeratosis, High p...	OMIM:619127
Intellectual Developmental Disorder, X-Linked, Syndromic 12	Mandibular prognathia, Thick lower lip vermilion, Brachycephaly, Wide mouth, Thick upper lip verm...	OMIM:309545
Craniosynostosis, Philadelphia Type	Finger syndactyly, Craniosynostosis	ORPHA:1527
Brachydactyly Type B2	Type B brachydactyly, Finger syndactyly, Short toe, Symphalangism affecting the phalanges of the ...	ORPHA:140908
White-Sutton Syndrome	Mandibular prognathia, Joint laxity, Wormian bones, Facial hypotonia, Congenital diaphragmatic he...	OMIM:616364
Trisomy 9P	Dental crowding, Bilateral single transverse palmar creases, Non-midline cleft lip, Brachycephaly...	ORPHA:236
Severe X-Linked Intellectual Disability, Gustavson Type	Congenital hip dislocation, Ventricular septal defect, Rocker bottom foot, Equinovarus deformity,...	ORPHA:3078
Zechi-Ceide Syndrome	Sandal gap, Cleft upper lip, Short metatarsal, Cleft palate, Oligodontia, Malar flattening, Long ...	OMIM:612916
Chime Syndrome	Brachycephaly, Short philtrum, Short palm, Microdontia, Abnormal dental morphology, Aplastic clav...	ORPHA:3474
Li-Ghorbani-Weisz-Hubshman Syndrome	Atrial septal defect, Overlapping toe, Ventricular septal defect, Downturned corners of mouth, Th...	OMIM:618974
Pelvis-Shoulder Dysplasia	Syndactyly, Aplasia/Hypoplasia of the ribs, Aplasia/Hypoplasia of the clavicles, Camptodactyly of...	ORPHA:2839
Periventricular Nodular Heterotopia 1	Syndactyly, Bicuspid aortic valve, Cerebral hemorrhage, Short finger, Clinodactyly	OMIM:300049
Gaucher Disease Type 1	Osteopenia, Increased bone mineral density, Pericardial effusion, Abnormal myocardium morphology,...	ORPHA:77259
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 1	Rocker bottom foot, Micrognathia, Flexion contracture, Wide mouth, Camptodactyly, Retrognathia	OMIM:604273
Heyn-Sproul-Jackson Syndrome	11 pairs of ribs, Short metacarpal, Broad phalanx, Short phalanx of finger, Broad metacarpals	OMIM:618724
Hirschsprung Disease With Ulnar Polydactyly, Polysyndactyly Of Big Toes, And Ventricular Septal Defect	Preaxial foot polydactyly, Ventricular septal defect, Polysyndactyly of hallux, Aganglionic megac...	OMIM:235750
Carey-Fineman-Ziter Syndrome 1	Skeletal muscle atrophy, Facial palsy, Hypoplasia of the musculature, Tapered finger, Micrognathi...	OMIM:254940
Spondyloperipheral Dysplasia-Short Ulna Syndrome	Hypoplasia of the ulna, Broad hallux, Talipes, Limited elbow extension, Short metatarsal, Flatten...	ORPHA:1856
Congenital Sialidosis Type 2	Abnormal EKG, Inguinal hernia, Edema, Protruding tongue, Gingival overgrowth, Telangiectasia, Abn...	ORPHA:93400
Cranioectodermal Dysplasia 2	Polyhydramnios, Micrognathia, Hydrops fetalis, Fused teeth, High palate, Widely spaced teeth, Atr...	OMIM:613610
Lessel-Kreienkamp Syndrome	Thin upper lip vermilion, Atrial septal defect, Wide cranial sutures, Bicuspid aortic valve, Fron...	OMIM:619149
Acrodysostosis 1 With Or Without Hormone Resistance	Mandibular prognathia, Accelerated skeletal maturation, Hypoplasia of the maxilla, Neonatal epiph...	OMIM:101800
19P13.13 Microdeletion Syndrome	Thin upper lip vermilion, Pes planus, Sandal gap, Dolichocephaly, Long fingers, Increased nuchal ...	ORPHA:357001
Nephrosialidosis	Pericardial effusion, Ascites	OMIM:256150
Rhizomelic Chondrodysplasia Punctata, Type 1	Frontal bossing, Calcific stippling of infantile cartilaginous skeleton, Rhizomelia, Micrognathia...	OMIM:215100
Ehlers-Danlos Syndrome, Cardiac Valvular Type	Aortic regurgitation, Joint laxity, Inguinal hernia, Pes planus, Genu recurvatum, Calcaneovalgus ...	OMIM:225320
Acrocephalopolydactylous Dysplasia	Hypoplastic colon, Omphalocele, Craniosynostosis, Micromelia, Postaxial hand polydactyly, Oxyceph...	OMIM:200995
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly	Ventricular septal defect, Splenomegaly, Postaxial hand polydactyly, Cone-shaped epiphyses of the...	OMIM:615630
Brachial Amelia, Cleft Lip, And Holoprosencephaly	Omphalocele, Bilateral cleft palate, Short femur, Ventricular septal defect, Bilateral cleft lip,...	OMIM:601357
Nivelon-Nivelon-Mabille Syndrome	Short metacarpal, Short phalanx of finger, Micromelia, Brachydactyly	OMIM:600092
Arthrogryposis, Distal, With Impaired Proprioception And Touch	Thin upper lip vermilion, Pes planus, Sandal gap, Arachnodactyly, Flexion contracture, Upper limb...	OMIM:617146
Cerebellar Ataxia, Brain Abnormalities, And Cardiac Conduction Defects	Mandibular prognathia, Tricuspid regurgitation, Tapered finger, Tooth malposition, Wide mouth, Ri...	OMIM:619576
Intellectual Developmental Disorder, Autosomal Dominant 1	Mandibular prognathia, Micrognathia, Brachycephaly, Downturned corners of mouth, Widely spaced te...	OMIM:156200
Neurodevelopmental Disorder With Severe Motor Impairment, Absent Language, Cerebral Hypomyelination, And Brain Atrophy	Brachycephaly, Tented upper lip vermilion, Talipes equinovarus, Long philtrum	OMIM:619972
Pfeiffer Syndrome	Mandibular prognathia, Finger syndactyly, Brachydactyly, Turricephaly, Symphalangism affecting th...	ORPHA:710
6Q25 Microdeletion Syndrome	Camptodactyly of finger, Rocker bottom foot, Micrognathia, Cleft palate, Plagiocephaly, High pala...	ORPHA:251056
Intellectual Developmental Disorder, X-Linked, Syndromic, Snyder-Robinson Type	Mandibular prognathia, Hyperextensibility of the finger joints, Decreased muscle mass, Long palm,...	OMIM:309583
Three M Syndrome 3	Frontal bossing, Dolichocephaly, Slender long bone, Hip dysplasia, Thick vermilion border, Long p...	OMIM:614205
Familial Dilated Cardiomyopathy With Conduction Defect Due To Lmna Mutation	Sinoatrial block, Atrial flutter, Atrial fibrillation, Lipodystrophy, Sudden cardiac death, Cardi...	ORPHA:300751
Ritscher-Schinzel Syndrome 4	Ulnar deviation of the hand, Tapered finger, Narrow palm, Hip dislocation, Narrow palate, Brachyc...	OMIM:619435
Thoracomelic Dysplasia	Elbow dislocation, Abnormal fibula morphology, Genu valgum, Joint hyperflexibility, Abnormal pelv...	ORPHA:1803
Insulin-Like Growth Factor I, Resistance To	Reduced subcutaneous adipose tissue, Thin upper lip vermilion, Sandal gap, Ventricular septal def...	OMIM:270450
Chromosome 2P16.1-P15 Deletion Syndrome	Thin upper lip vermilion, Arachnodactyly, Metatarsus adductus, High, narrow palate, Calcaneovalgu...	OMIM:612513
Brachydactyly, Type B2	Tarsal synostosis, Proximal placement of thumb, Aplasia/Hypoplasia of the distal phalanges of the...	OMIM:611377
Bardet-Biedl Syndrome 16	Polydactyly	OMIM:615993
Waardenburg Syndrome Type 3	Tented upper lip vermilion, Camptodactyly of finger, Tracheomalacia, Joint stiffness, Abnormal fi...	ORPHA:896
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly	Thin upper lip vermilion, Inguinal hernia, Flat occiput, Ventricular septal defect, Polyhydramnio...	OMIM:235255
Meier-Gorlin Syndrome 1	Genu recurvatum, Micrognathia, Hypoplasia of the maxilla, Flat glenoid fossa, Flexion contracture...	OMIM:224690
Camptodactyly-Joint Contractures-Facial Skeletal Defects Syndrome	Finger syndactyly, Camptodactyly of finger, Micrognathia, Joint stiffness, Narrow palate, Abnorma...	ORPHA:1323
Onychodystrophy, Osteodystrophy, Impaired Intellectual Development, And Seizures Syndrome	Atrial septal defect, Micrognathia, Narrow mouth, Delayed eruption of permanent teeth, Short dist...	OMIM:619356
Osteosclerosis-Developmental Delay-Craniosynostosis Syndrome	Broad jaw, Increased bone mineral density, Facial palsy, Craniosynostosis, Brachycephaly, Thicken...	ORPHA:178377
Marshall Syndrome	Thickened calvaria, Frontal bossing, Abnormality of the dentition, Micrognathia, Hypoplasia of th...	ORPHA:560
Silver-Russell Syndrome Due To A Point Mutation	Syndactyly, Inguinal hernia, Frontal bossing, Micrognathia, Cleft palate, Short 5th finger, Polyd...	ORPHA:397590
Multiple Synostoses Syndrome 1	Hypoplastic spinal processes, Single transverse palmar crease, Symphalangism affecting the phalan...	OMIM:186500
Basel-Vanagaite-Smirin-Yosef Syndrome	Mandibular prognathia, Tented upper lip vermilion, Single transverse palmar crease, High, narrow ...	ORPHA:464738
Chromosome 16P13.3 Duplication Syndrome	Tented upper lip vermilion, Proximal placement of thumb, Micrognathia, Atrial septal defect, Micr...	OMIM:613458
Lig4 Syndrome	Telangiectasia of the skin, Micrognathia, Malabsorption, Brachycephaly, Lymphadenopathy, Thin ver...	ORPHA:99812
Distal Triplication 15Q	Arachnodactyly, Craniosynostosis, Micrognathia, Flexion contracture, Abnormal heart morphology, H...	ORPHA:314588
Mandibulofacial Dysostosis, Guion-Almeida Type	Ventricular septal defect, Proximal placement of thumb, Micrognathia, Trigonocephaly, Preaxial ha...	OMIM:610536
Sillence Syndrome	Abnormal distal phalanx morphology of finger, Large tarsal bones, Metatarsus adductus, Chess-pawn...	ORPHA:3168
Acrodysostosis 2 With Or Without Hormone Resistance	Mandibular prognathia, Short metacarpal, Short metatarsal, Advanced ossification of carpal bones,...	OMIM:614613
Spondyloepimetaphyseal Dysplasia, Krakow Type	Atrial septal defect, Frontal bossing, Rhizomelia, Ulnar deviation of the wrist, Elbow contractur...	OMIM:618162
Teebi Hypertelorism Syndrome 2	Delayed eruption of teeth, Syndactyly, Thin upper lip vermilion, Cleft palate, High palate, Evert...	OMIM:619736
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency	High, narrow palate, Flexion contracture, Brachycephaly, Femoral bowing, Anteriorly placed anus, ...	ORPHA:95699
Melkersson-Rosenthal Syndrome	Facial edema, Facial palsy, Furrowed tongue	OMIM:155900
Holzgreve Syndrome	Abnormally ossified vertebrae, Turricephaly, Aplasia/Hypoplasia of the tongue, Abnormal morpholog...	ORPHA:2167
Turnpenny-Fry Syndrome	Mandibular prognathia, Dental crowding, Polyhydramnios, Brachycephaly, Prominent interphalangeal ...	OMIM:618371
Hypertelorism, Microtia, Facial Clefting Syndrome	Cleft upper lip, Micrognathia, 2-3 toe syndactyly, Cleft palate, Abnormal heart morphology, Small...	OMIM:239800
Spinal Muscular Atrophy, Type I	Ventricular septal defect, Spinal muscular atrophy, Proximal amyotrophy, Proximal muscle weakness...	OMIM:253300
Deafness, Onychodystrophy, Osteodystrophy, Impaired Intellectual Development, And Seizures Syndrome	Thin upper lip vermilion, Atrial septal defect, Ventricular septal defect, Thick lower lip vermil...	OMIM:220500
Robinow Syndrome	Dental crowding, Micrognathia, Pulmonary valve atresia, Orofacial cleft, Atrial septal defect, Fu...	ORPHA:97360
19P13.3 Microduplication Syndrome	Ventricular septal defect, Micrognathia, Long fingers, Hip dislocation, Osteoporosis, Cleft palat...	ORPHA:447980
Intellectual Developmental Disorder, X-Linked, Syndromic, Lujan-Fryns Type	Joint laxity, Hyperextensibility of the finger joints, Thin upper lip vermilion, Frontal bossing,...	OMIM:309520
Hypomelanosis Of Ito	Syndactyly, Thick lower lip vermilion, Irregularly spaced teeth, Hand polydactyly, Radial deviati...	OMIM:300337
Acrocardiofacial Syndrome	Hallux valgus, Finger syndactyly, Joint dislocation, Toe syndactyly, Truncus arteriosus, Camptoda...	ORPHA:2008
Microphthalmia With Cyst, Bilateral Facial Clefts, And Limb Anomalies	Frontal bossing, Broad proximal phalanges of the hand, Cleft upper lip, High, narrow palate, Clef...	OMIM:607597
Acropectorovertebral Dysplasia	Finger syndactyly, Toe syndactyly, Bifid distal phalanx of the thumb, Capitate-hamate fusion, Sho...	OMIM:102510
Neuropathy, Congenital Hypomyelinating, 3	Limb joint contracture, Polyhydramnios, Micrognathia, Dolichocephaly, Abnormal foot morphology, F...	OMIM:618186
Tibial Hemimelia	Aplasia of the 2nd metacarpal, Aplasia of the 4th metacarpal, Knee flexion contracture, Increased...	ORPHA:93322
Pentalogy Of Cantrell	Omphalocele, Ventricular septal defect, Abnormal pericardium morphology, Congenital diaphragmatic...	ORPHA:1335
Chromosome 16P13.3 Deletion Syndrome, Proximal	Broad hallux, Micrognathia, High palate, Hypoplastic left heart, Polysplenia, Clinodactyly of the...	OMIM:610543
Arthrogryposis, Cleft Palate, Craniosynostosis, And Impaired Intellectual Development	Nonimmune hydrops fetalis, Craniosynostosis, Micrognathia, Cleft palate, Plagiocephaly, Slender l...	OMIM:618265
Hypocomplementemic Urticarial Vasculitis	Joint dislocation, Abnormal heart valve morphology, Pericardial effusion, Splenomegaly, Angioedem...	ORPHA:36412
Fg Syndrome Type 1	Dental crowding, Single transverse palmar crease, Micrognathia, Generalized joint laxity, Fused t...	ORPHA:93932
Charcot-Marie-Tooth Disease, Axonal, Type 2S	Tongue atrophy, Areflexia of upper limbs, Upper limb muscle weakness, Areflexia of lower limbs, T...	OMIM:616155
Lethal Hemolytic Anemia-Genital Anomalies Syndrome	Sandal gap, Polyhydramnios, Micrognathia, Splenomegaly, Thin vermilion border, Narrow mouth, Asci...	ORPHA:1046
Intellectual Developmental Disorder, X-Linked, Syndromic, Lubs Type	Tented upper lip vermilion, Facial hypotonia, 2-3 toe cutaneous syndactyly, Brachycephaly, Short ...	OMIM:300260
Momo Syndrome	Delayed eruption of teeth, Frontal bossing, Thick lower lip vermilion, Dental malocclusion, Brach...	ORPHA:2563
Split-Hand/Foot Malformation 2	Finger syndactyly, Short metacarpal, Split hand, Split foot, Short phalanx of finger	OMIM:313350
Microcephaly-Capillary Malformation Syndrome	Ventricular septal defect, Hypoplasia of the maxilla, Cleft palate, Right ventricular hypertrophy...	OMIM:614261
Microcephaly, Congenital Heart Disease, Unilateral Renal Agenesis, And Hyposegmented Lungs	Truncus arteriosus, Ventricular septal defect, Cleft palate, Short distal phalanx of finger	OMIM:601355
Coffin-Siris Syndrome 3	Joint laxity, Inguinal hernia, Central diaphragmatic hernia, Delayed skeletal maturation, Short d...	OMIM:614608
Otospondylomegaepiphyseal Dysplasia, Autosomal Dominant	Epiphyseal dysplasia, Enlarged epiphyses, Pierre-Robin sequence, Premature osteoarthritis, Cleft ...	OMIM:184840
2P15P16.1 Microdeletion Syndrome	Polyhydramnios, Brachycephaly, High palate, Bilateral single transverse palmar creases, Prominent...	ORPHA:261349
Dyggve-Melchior-Clausen Disease	Glenoid fossa hypoplasia, Coxa vara, Rhizomelia, Iliac crest serration, Hypoplasia of the odontoi...	ORPHA:239
Congenital Heart Defects, Hamartomas Of Tongue, And Polysyndactyly	Broad hallux, Hamartoma of tongue, Complete atrioventricular canal defect, Postaxial hand polydac...	OMIM:217085
Saethre-Chotzen Syndrome	Hallux valgus, Finger syndactyly, Proximal radio-ulnar synostosis, Brachydactyly, Craniosynostosi...	ORPHA:794
Li-Campeau Syndrome	Ventricular septal defect, Single transverse palmar crease, Patellar hypoplasia, Long philtrum, A...	OMIM:619189
Syngap1-Related Developmental And Epileptic Encephalopathy	Postaxial polydactyly, Abnormal tongue physiology, Wide mouth, Thin vermilion border, High palate...	ORPHA:544254
Chromosome 15Q11.2 Deletion Syndrome	Irregular dentition, Swan neck-like deformities of the fingers, Arachnodactyly, Single transverse...	OMIM:615656
Trisomy 1Q	Microretrognathia, Omphalocele, Frontal bossing, Toe syndactyly, Arachnodactyly, Camptodactyly of...	ORPHA:261344
Multiple Pterygium-Malignant Hyperthermia Syndrome	Skeletal muscle atrophy, Congenital muscular torticollis, Polyhydramnios, Downturned corners of m...	ORPHA:2215
Neurodevelopmental Disorder With Hypotonia, Language Delay, And Skeletal Defects With Or Without Seizures	Prolonged QT interval, Thin upper lip vermilion, Anal stenosis, Frontal bossing, Pes planus, Micr...	OMIM:620029
Spondyloepimetaphyseal Dysplasia, Matrilin-3 Type	Limb undergrowth, Enlarged joints, Limited elbow extension, Bowing of the legs	ORPHA:156728
Congenital Hypotonia, Epilepsy, Developmental Delay, And Digital Anomalies	Thin upper lip vermilion, Atrial septal defect, Overlapping toe, Ventricular septal defect, High,...	OMIM:618494
Klippel-Feil Syndrome 4, Autosomal Recessive, With Nemaline Myopathy And Facial Dysmorphism	Thin upper lip vermilion, Micrognathia, Flexion contracture, Cardiomyopathy, Myopathy, Everted lo...	OMIM:616549
Bryant-Li-Bhoj Neurodevelopmental Syndrome 1	Mandibular prognathia, Tented upper lip vermilion, Bicuspid aortic valve, Single transverse palma...	OMIM:619720
Coffin-Siris Syndrome 7	Thin upper lip vermilion, Bicuspid aortic valve, Ventricular septal defect, Sagittal craniosynost...	OMIM:618027
Moebius Syndrome	Aplasia/Hypoplasia of the thumb, Skeletal muscle atrophy, Micrognathia, Aplasia of the pectoralis...	ORPHA:570
Polysyndactyly With Cardiac Malformation	Syndactyly, Ventricular septal defect, Polyhydramnios, Preaxial hand polydactyly, Duplication of ...	OMIM:263630
Gm1 Gangliosidosis	Mandibular prognathia, Hydrops fetalis, Gingival overgrowth, Hepatosplenomegaly, Cardiomyopathy, ...	ORPHA:354
Splenogonadal Fusion-Limb Defects-Micrognathia Syndrome	Abnormality of the knee, Inguinal hernia, Congenital diaphragmatic hernia, Micrognathia, Crowded ...	ORPHA:2063
Yunis-Varon Syndrome	Aplasia of the distal phalanges of the hand, Single transverse palmar crease, Aplasia/Hypoplasia ...	ORPHA:3472
Ulnar-Mammary Syndrome	Abnormal morphology of the radius, Ventricular septal defect, Camptodactyly of finger, Abnormalit...	ORPHA:3138
Melnick-Needles Syndrome	Delayed eruption of teeth, Omphalocele, Bowing of the long bones, Frontal bossing, Craniofacial h...	ORPHA:2484
Multiple Pterygium Syndrome, X-Linked	Joint dislocation, Vertebral fusion, Multiple pterygia, Cleft upper lip, Micrognathia, Edema, Pol...	OMIM:312150
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly	Preaxial polydactyly, Lobulated tongue, Narrow greater sciatic notch, Short tibia, Unicoronal syn...	OMIM:616300
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly	Metaphyseal widening, Preaxial polydactyly, Femoral bowing, Hypoplasia of the ulna, Hamartoma of ...	OMIM:613091
Epiphyseal Dysplasia, Baumann Type	Carpal bone aplasia, Epiphyseal dysplasia, Joint laxity, Pes planus, Hypoplasia of the femoral he...	OMIM:610797
Trisomy 10P	Thumb contracture, Wide cranial sutures, Decreased muscle mass, Frontal bossing, Abnormality of t...	ORPHA:171929
Brittle Cornea Syndrome	Hallux valgus, Pes planus, Arachnodactyly, Abnormality of the dentition, Osteoporosis, Cleft pala...	ORPHA:90354
Acropectoral Syndrome	Partial duplication of thumb phalanx, Preaxial polydactyly, Triphalangeal thumb	OMIM:605967
Hallermann-Streiff Syndrome	Selective tooth agenesis, Micrognathia, High, narrow palate, Metaphyseal widening, Brachycephaly,...	OMIM:234100
Autoimmune Disease, Multisystem, With Facial Dysmorphism	Hallux valgus, Frontal bossing, Single transverse palmar crease, Portal hypertension, Dolichoceph...	OMIM:613385
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Microdeletion	Long toe, Joint laxity, Inguinal hernia, Omphalocele, Overlapping toe, Single transverse palmar c...	ORPHA:254528
Cleidocranial Dysplasia 2	Osteopenia, Pes planus, Down-sloping shoulders, Aplastic clavicle, Coxa valga, Delayed eruption o...	OMIM:620099
Cutis Laxa, Autosomal Recessive, Type Iiia	Frontal bossing, Wide cranial sutures, Congenital hip dislocation, Inguinal hernia, Delayed skele...	OMIM:219150
Distal 22Q11.2 Microdeletion Syndrome	High, narrow palate, Short palm, Atrial septal defect, Clinodactyly of the 5th finger, Arachnodac...	ORPHA:261330
Verheij Syndrome	Joint laxity, Thin upper lip vermilion, Vertebral fusion, Truncus arteriosus, Ventricular septal ...	OMIM:615583
Den Hoed-De Boer-Voisin Syndrome	Delayed eruption of teeth, Lactose intolerance, Sandal gap, Ventricular septal defect, Joint hype...	OMIM:619229
Split-Hand/Foot Malformation 6	Finger syndactyly, Toe syndactyly, Split hand, Hand oligodactyly, Split foot, Foot oligodactyly	OMIM:225300
Gómez-López-Hernández Syndrome	Turricephaly, Thin vermilion border, Brachycephaly, Midface retrusion	ORPHA:1532
Pseudoaminopterin Syndrome	Single transverse palmar crease, Limited elbow movement, Micrognathia, Asplenia, Orofacial cleft,...	ORPHA:221120
Gorlin-Chaudhry-Moss Syndrome	Abnormality of the dentition, Hypoplasia of the maxilla, Abnormal foot morphology, Brachycephaly,...	ORPHA:2095
Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Impaired Intellectual Development, And Ear Anomalies Syndrome	Brachycephaly, Palmoplantar hyperkeratosis, Short philtrum, Widely spaced teeth, Clinodactyly of ...	OMIM:280000
Carey-Fineman-Ziter Syndrome	Skeletal muscle atrophy, Aplasia/Hypoplasia of the tongue, Facial palsy, Micrognathia, Aplasia of...	ORPHA:1358
Intellectual Developmental Disorder, Autosomal Recessive 35	Hypoplasia of the ulna, Thin upper lip vermilion, Flat occiput, Micrognathia, Downturned corners ...	OMIM:615162
Peters Plus Syndrome	Micromelia, Micrognathia, Polyhydramnios, Bicuspid pulmonary valve, Brachycephaly, Widely spaced ...	ORPHA:709
Distal Duplication 17Q	Hallux valgus, Thin upper lip vermilion, Accessory spleen, Joint laxity, Rhizomelia, Overlapping ...	ORPHA:3379
Moyamoya Disease 4 With Short Stature, Hypergonadotropic Hypogonadism, And Facial Dysmorphism	Cerebral hemorrhage, Abnormal hand morphology, Dilated cardiomyopathy, Small hand, Abnormal left ...	OMIM:300845
Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb	Mandibular prognathia, Bicuspid aortic valve, Single transverse palmar crease, Micrognathia, Brac...	OMIM:612474
Spondyloepimetaphyseal Dysplasia, Faden-Alkuraya Type	Osteopenia, Frontal bossing, Short metacarpal, Short fourth metatarsal, Overlapping toe, Tented u...	OMIM:616723
Maxillonasal Dysplasia	Mandibular prognathia, Aplasia/Hypoplasia of the distal phalanges of the toes, Open bite, Hypopla...	ORPHA:1248
Ring Chromosome 21 Syndrome	Fused thoracic vertebrae, Syndactyly, Small hand, Narrow palm, Abnormal heart morphology, Clinoda...	ORPHA:1445
Cree Mental Retardation Syndrome	Aplasia/Hypoplasia of the ribs, Rocker bottom foot, Cleft soft palate, Micrognathia, Brachycephal...	OMIM:606851
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 3	Joint laxity, Hypoplasia of the ulna, Pes planus, Tapered finger, Multiple joint dislocation, Hip...	OMIM:618395
Craniosynostosis-Anal Anomalies-Porokeratosis Syndrome	Frontal bossing, Abnormal dental morphology, Abnormal dental enamel morphology, Tarsal synostosis...	ORPHA:85199
Czeizel-Losonci Syndrome	Posterolateral diaphragmatic hernia, Hitchhiker thumb, Single transverse palmar crease, Dextrocar...	ORPHA:2437
Short Ulna-Dysmorphism-Hypotonia-Intellectual Disability Syndrome	Hypoplasia of the ulna, Thin upper lip vermilion, Flat occiput, Micrognathia, Everted lower lip v...	ORPHA:357175
X-Linked Intellectual Disability, Armfield Type	Mandibular prognathia, Inguinal hernia, Micrognathia, Abnormality of the elbow, Small hand, Brach...	ORPHA:85276
Filippi Syndrome	Enlarged epiphyses, Finger syndactyly, Frontal bossing, Ventricular septal defect, Delayed skelet...	ORPHA:3255
Osteoglophonic Dysplasia	Mandibular prognathia, Osteopenia, Hypoplasia of the maxilla, Short metatarsal, Eruption failure,...	OMIM:166250
Intellectual Developmental Disorder With Dysmorphic Facies And Behavioral Abnormalities	Pes planus, Sandal gap, Tapered finger, Cleft lip, Narrow mouth, Small hand, Cleft palate, Short ...	OMIM:618089
Chromosome 1Q41-Q42 Deletion Syndrome	Thin upper lip vermilion, Frontal bossing, Tented upper lip vermilion, Sandal gap, Ventricular se...	OMIM:612530
Intellectual Developmental Disorder, Autosomal Dominant 53	Short femur, Ventricular septal defect, Intestinal malrotation, Brachycephaly, Genu valgum, Wide ...	OMIM:617798
Developmental And Speech Delay Due To Sox5 Deficiency	Exaggerated median tongue furrow, Vertebral fusion, Frontal bossing, Dental crowding, 2-3 toe syn...	ORPHA:313892
Intellectual Developmental Disorder With Dysmorphic Facies And Ptosis	Joint hypermobility, Downturned corners of mouth, Wide mouth, Short philtrum, Talipes equinovarus...	OMIM:617333
Faciodigitogenital Syndrome, Autosomal Recessive	Syndactyly, Vertebral fusion, Inguinal hernia, Down-sloping shoulders, Metatarsus adductus, Trism...	OMIM:227330
Intellectual Disability-Balding-Patella Luxation-Acromicria Syndrome	Reduced subcutaneous adipose tissue, Hyperextensibility of the finger joints, Thin upper lip verm...	ORPHA:3041
Codas Syndrome	Delayed eruption of teeth, Short metacarpal, Congenital hip dislocation, Abnormal dental morpholo...	ORPHA:1458
Neurodevelopmental Disorder With Microcephaly, Impaired Language, Epilepsy, And Gait Abnormalities	Syndactyly, Arachnodactyly, Widely spaced teeth, Clinodactyly, Retrognathia, Pes cavus	OMIM:619092
Intellectual Disability, Birk-Barel Type	Tented upper lip vermilion, Foot joint contracture, Spinal muscular atrophy, Micrognathia, Dolich...	ORPHA:166108
Polydactyly, Preaxial Iii	Preaxial polydactyly, Triphalangeal thumb	OMIM:174600
Distal Duplication 5Q	Hypoplasia of the ulna, Ventricular septal defect, Dextrocardia, Craniosynostosis, Absent thumb, ...	ORPHA:96097
Microphthalmia, Syndromic 12	Ventricular septal defect, Intestinal malrotation, Congenital diaphragmatic hernia, Micrognathia,...	OMIM:615524
Diaphragmatic Defects, Limb Deficiencies, And Ossification Defects Of Skull	Omphalocele, Syndactyly, Toe syndactyly, Intestinal malrotation, Congenital diaphragmatic hernia,...	OMIM:601163
Urban-Rogers-Meyer Syndrome	Toe syndactyly, Abnormality of the philtrum, Camptodactyly of finger, Recurrent fractures, Microg...	ORPHA:3409
Developmental And Epileptic Encephalopathy 66	Thin upper lip vermilion, Atrial septal defect, Ventricular septal defect, Dextrocardia, Downturn...	OMIM:618067
Mandibuloacral Dysplasia With Type A Lipodystrophy	Osteopenia, Dental crowding, Micrognathia, Flexion contracture, High palate, Premature loss of te...	OMIM:248370
Arthrogryposis Multiplex Congenita 5	11 pairs of ribs, Inguinal hernia, Rocker bottom foot, Cardiac arrest, Micrognathia, Polyhydramni...	OMIM:618947
Seckel Syndrome 2	Micrognathia, Heart murmur, Clinodactyly of the 5th finger, Microdontia, Microglossia	OMIM:606744
Intellectual Developmental Disorder, Autosomal Dominant 4	Syndactyly, Short toe, Midface retrusion	OMIM:612581
Momo Syndrome	Delayed eruption of teeth, Frontal bossing, Delayed skeletal maturation, Thick lower lip vermilio...	OMIM:157980
Oculodentodigital Dysplasia	Mandibular prognathia, Micrognathia, Clinodactyly of the 5th finger, Finger syndactyly, Abnormal ...	ORPHA:2710
Atelosteogenesis Type I	Joint dislocation, Short femur, Rhizomelia, Polyhydramnios, Micrognathia, Malrotation of colon, A...	ORPHA:1190
Lambotte Syndrome	Preaxial foot polydactyly, Retrognathia, Ventricular septal defect, Narrow mouth	OMIM:245552
Cardiac-Urogenital Syndrome	Accessory spleen, Tachycardia, Cor triatrium sinister, Ventricular septal defect, Intestinal malr...	OMIM:618280
Spondyloepimetaphyseal Dysplasia, Strudwick Type	Pes planus, Brachydactyly, Club-shaped proximal femur, Inguinal hernia, Hypoplasia of the odontoi...	OMIM:184250
Andersen-Tawil Syndrome	Abnormality of dental color, Dental crowding, Micrognathia, Hypoplasia of the maxilla, Oligodonti...	ORPHA:37553
Developmental And Epileptic Encephalopathy 85 With Or Without Midline Brain Defects	Dental crowding, Congenital diaphragmatic hernia, Downturned corners of mouth, Short philtrum, Wi...	OMIM:301044
Trichorhinophalangeal Syndrome Type 1	Frontal bossing, Short metacarpal, Camptodactyly of finger, Abnormality of the dentition, Avascul...	ORPHA:77258
Kaufman Oculocerebrofacial Syndrome	Thin upper lip vermilion, Atrial septal defect, Congenital hip dislocation, Long palm, Single tra...	OMIM:244450
Facioscapulohumeral Muscular Dystrophy 1	Skeletal muscle atrophy, Scapular winging, Tongue atrophy, Facial palsy, Retinal telangiectasia, ...	OMIM:158900
Specc1L-Related Hypertelorism Syndrome	Omphalocele, Finger syndactyly, Atrial septal defect, Ventricular septal defect, Short toe, Brach...	ORPHA:1519
Neurodevelopmental Disorder With Hypotonia, Stereotypic Hand Movements, And Impaired Language	Thin upper lip vermilion, Single transverse palmar crease, 2-3 toe syndactyly, Downturned corners...	OMIM:613443
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1	Skeletal muscle atrophy, Frontal bossing, Ventricular septal defect, Postaxial polydactyly, Knee ...	OMIM:603387
Meckel Syndrome 14	Microretrognathia, Syndactyly, Bowing of the long bones, Tricuspid regurgitation, Talipes, Postax...	OMIM:619879
Osteogenesis Imperfecta, Type Vii	Osteopenia, Crumpled long bones, Wide cranial sutures, Rhizomelia, Protrusio acetabuli, Femoral r...	OMIM:610682
Kleefstra Syndrome	Delayed eruption of teeth, Mandibular prognathia, Tented upper lip vermilion, Exaggerated cupid's...	ORPHA:261494
Pycnodysostosis	Obtuse angle of mandible, Persistent open anterior fontanelle, Micrognathia, Hypoplasia of the ma...	ORPHA:763
Silver-Russell Syndrome 1	Syndactyly, Frontal bossing, Micrognathia, Abnormal foot morphology, Delayed skeletal maturation,...	OMIM:180860
Acrofacial Dysostosis 1, Nager Type	Aplasia/Hypoplasia of the thumb, Congenital diaphragmatic hernia, Micrognathia, Hypoplasia of fir...	OMIM:154400
Craniosynostosis And Dental Anomalies	Mandibular prognathia, Flat occiput, Dental crowding, Hypoplasia of the maxilla, Clinodactyly, Br...	OMIM:614188
Anauxetic Dysplasia 3	Short metacarpal, Joint hypermobility, Hip subluxation, Squared iliac bones, Femoral bowing, Genu...	OMIM:618853
Triploidy	Omphalocele, Finger syndactyly, Intestinal malrotation, Polyhydramnios, Micrognathia, Non-midline...	ORPHA:3376
Joubert Syndrome 27	Frontal bossing, Thick lower lip vermilion, Polydactyly	OMIM:617120
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 2	11 pairs of ribs, Dental crowding, Joint hypermobility, Joint stiffness, Tracheobronchomalacia, P...	OMIM:619184
Holoprosencephaly-Craniosynostosis Syndrome	Craniosynostosis, Coxa valga, Delayed skeletal maturation, Brachycephaly, Hypoplastic vertebral b...	ORPHA:2163
Acro-Renal-Mandibular Syndrome	Hypoplasia of the ulna, Finger syndactyly, Hypoplastic scapulae, Aplasia/Hypoplasia of the tongue...	ORPHA:958
Spondyloepimetaphyseal Dysplasia, Irapa Type	Metaphyseal dysplasia, Short metacarpal, Hypoplastic sacrum, Capitate-hamate fusion, Osteoarthrit...	OMIM:271650
Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 1	Thin upper lip vermilion, Skeletal muscle atrophy, Micrognathia, Brachycephaly, Wide mouth, Joint...	OMIM:615419
Hypoglossia-Hypodactyly Syndrome	Finger syndactyly, Brachydactyly, Jejunal atresia, Aplasia/Hypoplasia of the tongue, Micrognathia...	ORPHA:989
Corpus Callosum, Agenesis Of, With Facial Anomalies And Robin Sequence	Syndactyly, Proximal placement of thumb, Micrognathia, Pierre-Robin sequence, Cleft palate, Anter...	OMIM:217980
Infantile Multisystem Neurologic-Endocrine-Pancreatic Disease	Thin upper lip vermilion, Congenital hip dislocation, Ulnar deviation of the 3rd finger, Facial p...	ORPHA:456312
Ogden Syndrome	Microretrognathia, Frontal bossing, Everted upper lip vermilion, Torticollis, Broad hallux, Ventr...	ORPHA:276432
Wiedemann-Steiner Syndrome	Micrognathia, Accelerated skeletal maturation, High palate, Atrial septal defect, Clinodactyly of...	OMIM:605130
Warburg Micro Syndrome 3	Decreased muscle mass, Micrognathia, Flexion contracture, Brachycephaly, Narrow palate, Ankle clo...	OMIM:614222
Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To 5Q31.3 Microdeletion	Prominent metopic ridge, Tented upper lip vermilion, Micrognathia, Deep philtrum, Abnormal heart ...	ORPHA:314655
Cantú Syndrome	Finger syndactyly, Broad hallux phalanx, Abnormal heart valve morphology, Short hallux, Coxa valg...	ORPHA:1517
Chromosome 17Q12 Duplication Syndrome	Facial hypotonia, Cleft soft palate, Micrognathia, Esophageal atresia, Atrial septal defect, Broa...	OMIM:614526
Distal Deletion 12Q	Single transverse palmar crease, Micrognathia, High, narrow palate, Brachycephaly, Aplasia/Hypopl...	ORPHA:96149
Noonan Syndrome 13	Micrognathia, Lymphedema, High palate, Widely spaced teeth, Atrial septal defect, Microdontia, Jo...	OMIM:619087
Postaxial Acrofacial Dysostosis	Hypoplasia of the ulna, Finger syndactyly, Camptodactyly of finger, Micrognathia, Non-midline cle...	ORPHA:246
Camptodactyly-Arthropathy-Coxa-Vara-Pericarditis Syndrome	Pericarditis, Camptodactyly of finger, Wrist swelling, Polyarticular arthropathy, Knee osteoarthr...	ORPHA:2848
Pfeiffer Syndrome Type 3	Finger syndactyly, Broad hallux phalanx, Toe syndactyly, Intestinal malrotation, Short hallux, Ha...	ORPHA:93260
Synpolydactyly 2	Toe syndactyly, Tarsal synostosis, Polydactyly, Carpal synostosis, Metatarsal synostosis, Metacar...	OMIM:608180
Sheldon-Hall Syndrome	Ulnar deviation of the wrist, Tarsal synostosis, Micrognathia, Joint stiffness, Adducted thumb, U...	ORPHA:1147
Spondyloepimetaphyseal Dysplasia, Sponastrime Type	Mandibular prognathia, Osteopenia, Metaphyseal widening, Coxa vara, Genu varum, Rhizomelia, Delay...	OMIM:271510
De Barsy Syndrome	Delayed eruption of teeth, Osteopenia, Decreased muscle mass, Congenital hip dislocation, Ventric...	ORPHA:2962
20Q11.2 Microduplication Syndrome	Prominent metopic ridge, Tented upper lip vermilion, Palpebral edema, Inguinal hernia, Trigonocep...	ORPHA:363659
Primary Effusion Lymphoma	Pericardial effusion, Pleural effusion	ORPHA:48686
Very Long Chain Acyl-Coa Dehydrogenase Deficiency	Prolonged QT interval, Exercise-induced rhabdomyolysis, Tachycardia, Ventricular septal defect, P...	ORPHA:26793
Intellectual Developmental Disorder With Cardiac Defects And Dysmorphic Facies	Long toe, Thin upper lip vermilion, Omphalocele, Overlapping toe, Exaggerated cupid's bow, Intest...	OMIM:618316
Basel-Vanagaite-Smirin-Yosef Syndrome	Inguinal hernia, Tented upper lip vermilion, Ventricular septal defect, Single transverse palmar ...	OMIM:616449
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 2	Osteopenia, Epiphyseal dysplasia, Bowing of the long bones, Joint laxity, Frontal bossing, Hypopl...	OMIM:615349
Neurodevelopmental Disorder With Hypotonia And Brain Abnormalities	Mandibular prognathia, Atrial septal defect, Prominent metopic ridge, Congenital hip dislocation,...	OMIM:619512
3Q29 Microduplication Syndrome	Toe syndactyly, Sandal gap, Ventricular septal defect, Craniosynostosis, Abnormality of the denti...	ORPHA:251038
Microcephaly-Corpus Callosum And Cerebellar Vermis Hypoplasia-Facial Dysmorphism-Intellectual Disability Syndrom	Joint laxity, Bicuspid aortic valve, Ventricular septal defect, Tracheobronchomalacia, Abnormal h...	ORPHA:500159
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2B, Prenatal Onset, Autosomal Dominant	Skeletal muscle atrophy, Congenital hip dislocation, Femur fracture, Single transverse palmar cre...	OMIM:618291
Bardet-Biedl Syndrome 17	Mesoaxial polydactyly, Short fourth metatarsal, Mesoaxial hand polydactyly, Dextrocardia, Situs i...	OMIM:615994
X-Linked Intellectual Disability, Hedera Type	Pes planus, Calcaneovalgus deformity, Absent Achilles reflex, Hyporeflexia of upper limbs, Hypore...	ORPHA:93952
Myopathy, Myofibrillar, 12, Infantile-Onset, With Cardiomyopathy	Tented upper lip vermilion, Left ventricular noncompaction cardiomyopathy, Left atrial enlargemen...	OMIM:619424
Trisomy 13	Median cleft lip, Ventricular septal defect, Abnormality of the dentition, High, narrow palate, P...	ORPHA:3378
Autosomal Dominant Intellectual Disability-Craniofacial Anomalies-Cardiac Defects Syndrome	Microretrognathia, Thin upper lip vermilion, Ventricular septal defect, Intestinal malrotation, C...	ORPHA:457193
Alg12-Cdg	Proximal placement of thumb, Micrognathia, Edema, Polyhydramnios, Posterior plagiocephaly, Short ...	ORPHA:79324
Neuropathy, Congenital, With Arthrogryposis Multiplex	Hyporeflexia of lower limbs, Calcaneovalgus deformity, Distal amyotrophy, Areflexia of lower limb...	OMIM:162370
Spondylometaphyseal Dysplasia, Schmidt Type	Metaphyseal dysplasia, Abnormality of the knee, Irregular iliac crest, Abnormality of the epiphys...	ORPHA:93316
Pmp22-Rai1 Contiguous Gene Duplication Syndrome	Joint laxity, Thin upper lip vermilion, Pes planus, Overriding aorta, Sandal gap, Bicuspid aortic...	ORPHA:477817
Chromosome 18Q Deletion Syndrome	Mandibular prognathia, Proximal placement of thumb, Downturned corners of mouth, Short philtrum, ...	OMIM:601808
Subaortic Stenosis-Short Stature Syndrome	Inguinal hernia, Micrognathia, Membranous subvalvular aortic stenosis, Subvalvular aortic stenosi...	ORPHA:3191
Achard Syndrome	Joint laxity, Arachnodactyly, Micrognathia, Broad skull, Brachycephaly	OMIM:100700
Cleft-Limb-Heart Malformation Syndrome	Syndactyly, Truncus arteriosus	OMIM:215850
Craniofrontonasal Syndrome	Joint laxity, Frontal bossing, Toe syndactyly, Broad hallux, Down-sloping shoulders, Congenital d...	OMIM:304110
Dysosteosclerosis	Delayed eruption of teeth, Craniofacial hyperostosis, Increased bone mineral density, Ventricular...	ORPHA:1782
Meester-Loeys Syndrome	Joint dislocation, Frontal bossing, Pes planus, Arachnodactyly, Dolichocephaly, Gingival overgrow...	OMIM:300989
Alg8-Cdg	Abnormality of subcutaneous fat tissue, Edema, Hydrops fetalis, Oligohydramnios, Macroglossia, Ta...	ORPHA:79325
Auriculocondylar Syndrome 2A	Dental crowding, Micrognathia, Microglossia, Dental malocclusion, Cleft palate, Mandibular condyl...	OMIM:614669
Intellectual Developmental Disorder With Autism And Dysmorphic Facies	Overlapping toe, Cleft palate, High palate, Malar flattening, Open mouth	OMIM:620021
Temple Syndrome	Frontal bossing, Micrognathia, Flexion contracture, Small hand, Cleft palate, Short foot, High pa...	OMIM:616222
13Q12.3 Microdeletion Syndrome	Thin upper lip vermilion, Congenital diaphragmatic hernia, Upper eyelid edema, Oligodontia, Hip d...	ORPHA:412035
Robinow Syndrome, Autosomal Dominant 1	Short lingual frenulum, Dental crowding, Micrognathia, Orofacial cleft, Downturned corners of mou...	OMIM:180700
Oculoauriculovertebral Spectrum With Radial Defects	Aplasia/Hypoplasia of the thumb, Preaxial hand polydactyly, Non-midline cleft lip, Orofacial clef...	ORPHA:2549
Acromesomelic Dysplasia 3	Carpal synostosis, Hypoplasia of the ulna, Brachydactyly, Tarsal synostosis, Short toe, Short 1st...	OMIM:609441
Macrothrombocytopenia-Lymphedema-Developmental Delay-Facial Dysmorphism-Camptodactyly Syndrome	Tented upper lip vermilion, Proximal placement of thumb, Lymphedema, Flexion contracture, Downtur...	ORPHA:487796
Trisomy 17P	Skeletal muscle atrophy, Prominent metopic ridge, Talipes, Tapered finger, Micrognathia, Flexion ...	ORPHA:261290
Congenital Hemidysplasia With Ichthyosiform Erythroderma And Limb Defects	2-5 finger syndactyly, Congenital hip dislocation, Single transverse palmar crease, Micrognathia,...	OMIM:308050
Ring Chromosome 7 Syndrome	Mandibular prognathia, Single transverse palmar crease, Situs inversus totalis, Small hand, Brach...	ORPHA:1449
Pediatric Systemic Lupus Erythematosus	Myositis, Edema, Raynaud phenomenon, Pericardial effusion, Oral ulcer, Lymphadenopathy, Arthritis...	ORPHA:93552
Autosomal Recessive Faciodigitogenital Syndrome	Finger syndactyly, Frontal bossing, Down-sloping shoulders, Micrognathia, Open bite, Deep philtru...	ORPHA:1974
Robin Sequence With Distinctive Facial Appearance And Brachydactyly	Tented upper lip vermilion, Micrognathia, Aplasia of the distal phalanx of the 5th finger, Oligod...	OMIM:608670
Acrofacial Dysostosis Syndrome Of Rodriguez	11 pairs of ribs, Overlapping toe, Single transverse palmar crease, Micrognathia, Narrow mouth, F...	OMIM:201170
Intellectual Developmental Disorder, X-Linked, Syndromic, 35	Mandibular prognathia, Contracture of the proximal interphalangeal joint of the 2nd finger, Denta...	OMIM:300998
Chromosome 8Q22.1 Duplication Syndrome	Hallux valgus, Short metacarpal, Enlarged interphalangeal joints, Genu recurvatum, Interphalangea...	OMIM:151200
Neurodevelopmental Disorder With Poor Growth, Large Ears, And Dysmorphic Facies	Hallux valgus, Osteopenia, Micrognathia, Secundum atrial septal defect, Long hallux, High palate,...	OMIM:620194
Teebi Hypertelorism Syndrome 1	Omphalocele, Thin upper lip vermilion, Natal tooth, Frontal bossing, Dental crowding, Ventricular...	OMIM:145420
Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked	Ventricular septal defect, Rocker bottom foot, Craniosynostosis, Coxa valga, Polyhydramnios, Tali...	OMIM:301056
Fryns Syndrome	Tented upper lip vermilion, Single transverse palmar crease, Proximal placement of thumb, Polyhyd...	OMIM:229850
Pyknoachondrogenesis	Craniofacial hyperostosis, Abnormal intramembranous ossification, Palpebral edema, Micromelia, Sh...	ORPHA:3003
Mullegama-Klein-Martinez Syndrome	Thin upper lip vermilion, Frontal bossing, Pes planus, Facial palsy, Congenital diaphragmatic her...	OMIM:301022
Hogue-Janssen Syndrome 2	Prominent metopic ridge, Tented upper lip vermilion, Broad hallux, Facial hypotonia, Postaxial po...	OMIM:616362
Distal Deletion 15Q	Flat occiput, Bicuspid aortic valve, Single transverse palmar crease, Congenital diaphragmatic he...	ORPHA:1596
Distal Duplication 18Q	Arachnodactyly, Camptodactyly of finger, Abnormal dental morphology, Micrognathia, Carious teeth,...	ORPHA:1716
Dihydropyrimidinase Deficiency	Plagiocephaly, Short phalanx of finger, Talipes equinovarus, Anal atresia	OMIM:222748
Achondroplasia	Frontal bossing, Rhizomelia, Hip joint hypermobility, Bowing of the legs, Short proximal phalanx ...	ORPHA:15
Polyvalvular Heart Disease Syndrome	Tricuspid regurgitation, Dental crowding, Abnormal heart valve morphology, Micrognathia, Dolichoc...	ORPHA:228410
Multiple Pterygium Syndrome, Lethal Type	Joint dislocation, Vertebral fusion, Multiple pterygia, Micrognathia, Edema, Polyhydramnios, Flex...	OMIM:253290
Acrofacial Dysostosis, Palagonia Type	Finger syndactyly, Micrognathia, High, narrow palate, Supernumerary tooth, Delayed skeletal matur...	ORPHA:1787
Marfan Syndrome	Decreased muscle mass, Dental crowding, Bicuspid aortic valve, Genu recurvatum, Equinus calcaneus...	OMIM:154700
Tibial Aplasia-Ectrodactyly Syndrome	Omphalocele, Finger syndactyly, Short femur, Preaxial hand polydactyly, Postaxial hand polydactyl...	ORPHA:3329
Intellectual Developmental Disorder, X-Linked, Syndromic, Claes-Jensen Type	Distal lower limb amyotrophy, Thin upper lip vermilion, Mandibular prognathia, Facial hypotonia, ...	OMIM:300534
Myasthenic Syndrome, Congenital, 24, Presynaptic	Abnormal foot morphology, Knee flexion contracture, Distal arthrogryposis, Talipes equinovarus, C...	OMIM:618198
Epidermolysis Bullosa, Junctional 1B, Severe	Syndactyly, Carious teeth, Pyloric stenosis, Atrophic scars, Enamel hypoplasia	OMIM:226700
Trisomy 8Q	Camptodactyly of finger, Micrognathia, Joint stiffness, Non-midline cleft lip, Orofacial cleft, C...	ORPHA:1752
Developmental Delay With Short Stature, Dysmorphic Facial Features, And Sparse Hair 2	Single transverse palmar crease, Muscular ventricular septal defect, Adducted thumb, Notched prim...	OMIM:620062
Say Syndrome	Ulnar deviation of the 3rd finger, Micrognathia, Tapered finger, Cleft palate, Short distal phala...	OMIM:181180
Arthrogryposis And Ectodermal Dysplasia	Skeletal muscle atrophy, Abnormal dental enamel morphology, Cleft upper lip, Brachycephaly, Orofa...	OMIM:601701
Axial Spondylometaphyseal Dysplasia	Osteopenia, Aplasia/Hypoplasia of the vertebrae, Aplasia/Hypoplasia of the ribs, Iliac crest serr...	ORPHA:168549
Cutis Laxa, Autosomal Recessive, Type Iic	Mandibular prognathia, Dental crowding, Hypoplasia of the maxilla, Knee flexion contracture, High...	OMIM:617402
Hallermann-Streiff Syndrome	Natal tooth, Frontal bossing, Recurrent fractures, Tracheomalacia, Abnormality of the dentition, ...	ORPHA:2108
Flna-Related X-Linked Myxomatous Valvular Dysplasia	Aortic regurgitation, Pes planus, Tricuspid regurgitation, Bicuspid aortic valve, Micrognathia, T...	ORPHA:555877
Silver-Russell Syndrome Due To Maternal Uniparental Disomy Of Chromosome 7	Decreased muscle mass, Dental crowding, Micrognathia, High, narrow palate, Downturned corners of ...	ORPHA:96182
Microcephalic Primordial Dwarfism, Dauber Type	Delayed skeletal maturation, Abnormal carpal morphology, Madelung deformity, Hip dysplasia, Limb ...	ORPHA:319675
Rhizomelic Chondrodysplasia Punctata, Type 2	Osteopenia, Short humerus, Inguinal hernia, Rhizomelia, Micrognathia, Submucous cleft hard palate...	OMIM:222765
Rhizomelic Chondrodysplasia Punctata	Rhizomelia, Abnormality of the dentition, Limitation of joint mobility, Epiphyseal stippling, Abn...	ORPHA:177
Menkes Disease	Joint laxity, Metaphyseal spurs, Metaphyseal widening, Osteoporosis, Brachycephaly, Intracranial ...	OMIM:309400
Ehlers-Danlos Syndrome, Musculocontractural Type, 1	Joint dislocation, Generalized joint laxity, Brachycephaly, High palate, Atrial septal defect, Ab...	OMIM:601776
Tmem70-Related Mitochondrial Encephalo-Cardio-Myopathy	Camptodactyly of finger, Abnormal pulmonary valve morphology, Congestive heart failure, Flexion c...	ORPHA:1194
Microphthalmia, Isolated 4	Postaxial polydactyly	OMIM:613094
Rapadilino Syndrome	Joint dislocation, Aplasia/Hypoplasia of the patella, Absent thumb, High, narrow palate, Cleft pa...	OMIM:266280
Intellectual Disability-Polydactyly-Uncombable Hair Syndrome	Mandibular prognathia, Broad hallux phalanx, Frontal bossing, Toe syndactyly, Metatarsus valgus, ...	ORPHA:3082
Hypomandibular Faciocranial Dysostosis	Midface retrusion, Aplasia/Hypoplasia of the tongue, Craniosynostosis, Polyhydramnios, Trigonocep...	ORPHA:1790
Acromelic Frontonasal Dysostosis	Tubulonodular pericallosal lipoma, Syndactyly, Cleft upper lip, Parietal foramina, Preaxial polyd...	OMIM:603671
Mesomelic Dysplasia, Savarirayan Type	Broad tibial metaphyses, Bowing of the long bones, Glenoid fossa hypoplasia, Elbow dislocation, H...	ORPHA:85170
Cardiomyopathy, Dilated, 1A	Atrial flutter, Atrial fibrillation, First degree atrioventricular block, Sudden cardiac death, P...	OMIM:115200
Severe Microbrachycephaly-Intellectual Disability-Athetoid Cerebral Palsy Syndrome	Mandibular prognathia, Frontal bossing, Camptodactyly of finger, Lip pit, Tapered finger, Brachyc...	ORPHA:1236
Nablus Mask-Like Facial Syndrome	Thin upper lip vermilion, Frontal bossing, Sandal gap, Single transverse palmar crease, Short hal...	OMIM:608156
Silver-Russell Syndrome 3	Syndactyly, Frontal bossing, Elbow contracture, Delayed skeletal maturation, Small hand, Antecubi...	OMIM:616489
Joubert Syndrome 14	Tented upper lip vermilion, Ventricular septal defect, Postaxial polydactyly, Cleft palate, Intra...	OMIM:614424
Acromelic Frontonasal Dysplasia	Median cleft lip, Midline central nervous system lipomas, Brachycephaly, Patellar hypoplasia, Wid...	ORPHA:1827
Adams-Oliver Syndrome	Gastrointestinal hemorrhage, Finger syndactyly, Brachydactyly, Abnormal pulmonary valve morpholog...	ORPHA:974
Intellectual Developmental Disorder, X-Linked, Syndromic, Snijders Blok Type	Cleft upper lip, Brachycephaly, Cleft palate, Bifid uvula, Dysplastic pulmonary valve	OMIM:300958
20P13 Microdeletion Syndrome	Finger syndactyly, Thin upper lip vermilion, Tented upper lip vermilion, Polydactyly, Clinodactyl...	ORPHA:313781
Kapur-Toriello Syndrome	Ventricular septal defect, Single transverse palmar crease, Camptodactyly of finger, Cleft upper ...	OMIM:244300
Nephronophthisis 15	Polydactyly	OMIM:614845
Ring Chromosome 4 Syndrome	Aplasia/Hypoplasia of the radius, Split hand, Abnormality of the upper limb, Abnormal morphology ...	ORPHA:1447
Autosomal Dominant Omodysplasia	Short humerus, Frontal bossing, Rhizomelia, Micrognathia, Elbow dislocation, Patellar dislocation...	ORPHA:93328
Steel Syndrome	Carpal synostosis, Pes planus, Hip dislocation, Coxa vara, Clinodactyly of the 5th finger, Pes ca...	OMIM:615155
Fatco Syndrome	Finger syndactyly, Tarsal synostosis, Abnormal tibia morphology, Split hand, Absent hand, Abnorma...	ORPHA:2492
Aplasia Cutis Congenita	Finger syndactyly, Toe syndactyly, Facial palsy, Abnormality of bone mineral density, Calvarial s...	ORPHA:1114
Tarp Syndrome	Finger syndactyly, Single transverse palmar crease, Rocker bottom foot, Postaxial polydactyly, Mi...	ORPHA:2886
Stickler Syndrome, Type I	Arthropathy, Arachnodactyly, Micrognathia, Joint stiffness, Irregular femoral epiphysis, Submucou...	OMIM:108300
Myhre Syndrome	Mandibular prognathia, Hypoplasia of the maxilla, Short palm, Large iliac wing, Bifid uvula, Femo...	ORPHA:2588
Cleft Lip/Palate-Ectodermal Dysplasia Syndrome	Abnormality of the philtrum, Cleft upper lip, Palmoplantar hyperkeratosis, Cleft palate, Cutaneou...	OMIM:225060
Charcot-Marie-Tooth Disease, Type 4C	Tongue atrophy, Facial palsy, Upper limb muscle weakness, Hammertoe, Distal amyotrophy, Talipes e...	OMIM:601596
Recombinant 8 Syndrome	Atrial septal defect, Ventricular septal defect, Camptodactyly of finger, Cleft upper lip, Abnorm...	ORPHA:96167
Bardet-Biedl Syndrome 22	Postaxial foot polydactyly, Polydactyly	OMIM:617119
Neurodevelopmental Disorder With Hypotonia And Variable Intellectual And Behavioral Abnormalities	Skeletal muscle atrophy, Inguinal hernia, Brachycephaly, Cleft palate, Plagiocephaly, High palate...	OMIM:618603
Hall-Riggs Syndrome	Delayed eruption of teeth, Abnormal dental enamel morphology, Joint stiffness, Delayed skeletal m...	ORPHA:2107
Neurodevelopmental Disorder With Central And Peripheral Motor Dysfunction	11 pairs of ribs, Hyperextensibility of the finger joints, Micrognathia, Cleft palate, Glossoptosis	OMIM:618356
Skin Creases, Congenital Symmetric Circumferential, 1	Micrognathia, Long fingers, Narrow mouth, Brachycephaly, Cleft palate, High palate, Long philtrum	OMIM:156610
Chromosome 8Q21.11 Deletion Syndrome	Syndactyly, Short metacarpal, Exaggerated cupid's bow, Micrognathia, Cleft palate, Downturned cor...	OMIM:614230
Femoral-Facial Syndrome	Thin upper lip vermilion, Inguinal hernia, Short femur, Micrognathia, Abnormal fibula morphology,...	ORPHA:1988
Costello Syndrome	Ventricular septal defect, Abnormal dental enamel morphology, Polyhydramnios, Abnormality of the ...	ORPHA:3071
Intellectual Disability-Craniofacial Dysmorphism-Cryptorchidism Syndrome	Thin upper lip vermilion, Atrial septal defect, Inguinal hernia, Bicuspid aortic valve, Single tr...	ORPHA:329224
Short-Rib Thoracic Dysplasia 8 With Or Without Polydactyly	Syndactyly, Ventricular septal defect, Postaxial polydactyly, Polyhydramnios, Preaxial polydactyl...	OMIM:615503
Intellectual Developmental Disorder, Autosomal Dominant 29	Thin upper lip vermilion, Frontal bossing, Pes cavus, Sandal gap, Broad hallux, Dental crowding, ...	OMIM:616078
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome	Osteopenia, Tented upper lip vermilion, Exaggerated cupid's bow, Craniosynostosis, Micrognathia, ...	ORPHA:369837
Aarskog-Scott Syndrome	Hyperextensibility of the finger joints, Single transverse palmar crease, Hypoplasia of the maxil...	OMIM:305400
Imperforate Oropharynx-Costovertebral Anomalies Syndrome	Long palm, Aplasia/Hypoplasia of the tongue, Arachnodactyly, Abnormality of the philtrum, Missing...	ORPHA:2759
Metaphyseal Dysostosis, Impaired Intellectual Development, And Conductive Deafness	Joint laxity, Metaphyseal dysplasia, Brachydactyly, Irregular iliac crest, Metaphyseal widening, ...	OMIM:250420
Ohdo Syndrome, Sbbys Variant	Thin upper lip vermilion, Micrognathia, Dilated cardiomyopathy, Cleft palate, Prominent occiput, ...	OMIM:603736
X Small Rings	Joint laxity, Thin upper lip vermilion, Toe syndactyly, Bicuspid aortic valve, Ventricular septal...	ORPHA:96201
Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities	Coxa valga, Hypoplasia of the maxilla, Hip dislocation, Brachycephaly, Malar flattening, Absent e...	OMIM:109120
Congenital Heart Defects, Multiple Types, 8, With Or Without Heterotaxy	Atrial septal defect, Toe syndactyly, Ventricular septal defect, Intestinal malrotation, Dextroca...	OMIM:619657
Galloway-Mowat Syndrome 3	Frontal bossing, Arachnodactyly, Edema, Hiatus hernia, Micrognathia, Narrow mouth, Hip dislocatio...	OMIM:617729
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy	Nonimmune hydrops fetalis, Pericardial effusion, Hypoplasia of the thymus, Endocardial fibroelast...	OMIM:619313
Omodysplasia 1	Micrognathia, Limited elbow flexion, Atrial septal defect, Short tibia, Rhizomelia, Increased fib...	OMIM:258315
Brachycephaly, Deafness, Cataract, Microstomia, And Impaired Intellectual Development	Thin upper lip vermilion, Rocker bottom foot, Tapered finger, Narrow mouth, Brachycephaly, Cleft ...	OMIM:601353
Omodysplasia 2	Short humerus, Frontal bossing, Tented upper lip vermilion, Bilateral cleft lip, Micrognathia, Fi...	OMIM:164745
Ventriculomegaly With Defects Of The Radius And Kidney	Absent radius, Bowed forearm bones, Forearm undergrowth, Absent thumb	OMIM:602200
Fallot Complex-Intellectual Disability-Growth Delay Syndrome	Thin upper lip vermilion, Overriding aorta, Single transverse palmar crease, Micrognathia, 2-3 to...	ORPHA:3304
Vertebral Anomalies And Variable Endocrine And T-Cell Dysfunction	Aplasia of the thymus, Cleft lip, Brachycephaly, Narrow palate, Cleft palate, Contracture of the ...	OMIM:618223
Mosaic Variegated Aneuploidy Syndrome 2	Aortic regurgitation, Atrial septal defect, Frontal bossing, Rhizomelia, Single transverse palmar...	OMIM:614114
Isolated Klippel-Feil Syndrome	Congenital muscular torticollis, Ventricular septal defect, Cleft palate, Abnormal shoulder morph...	ORPHA:2345
Craniofacial Dyssynostosis With Short Stature	Frontal bossing, Ventricular septal defect, Pyloric stenosis, Brachycephaly, Abnormal shape of th...	OMIM:218350
Stickler Syndrome Type 1	Hypoplasia of the maxilla, Osteoarthritis, Cleft palate, Mitral valve prolapse, Joint hyperflexib...	ORPHA:90653
Acrofrontofacionasal Dysostosis 1	Mandibular prognathia, Short metacarpal, Cleft upper lip, Brachycephaly, Cleft palate, Wide mouth...	OMIM:201180
Developmental Delay With Hypotonia, Myopathy, And Brain Abnormalities	Tented upper lip vermilion, Micrognathia, Flexion contracture, Brachycephaly, Muscle fiber atroph...	OMIM:620240
Spondylometaphyseal Dysplasia, Sedaghatian Type	Delayed epiphyseal ossification, Long fibula, Narrow greater sciatic notch, Atrial septal defect,...	OMIM:250220
Spondyloepiphyseal Dysplasia Congenita	Abnormally ossified vertebrae, Short femur, Limited elbow movement, Micrognathia, Abnormal foot m...	ORPHA:94068
Distal Monosomy 7Q36	Micrognathia, Non-midline cleft lip, Cleft palate, Symphalangism affecting the phalanges of the h...	ORPHA:1636
Silver-Russell Syndrome 2	Frontal bossing, Delayed closure of the anterior fontanelle, Micrognathia, Delayed skeletal matur...	OMIM:618905
Craniofacial Dysmorphism, Skeletal Anomalies, And Impaired Intellectual Development Syndrome 1	Hyperextensibility of the finger joints, Polyhydramnios, Micrognathia, Hypoplasia of the maxilla,...	OMIM:213980
Neurodevelopmental Disorder With Microcephaly, Impaired Language, And Gait Abnormalities	Syndactyly, Clinodactyly, Flexion contracture	OMIM:619091
Distal Symphalangism	Joint stiffness, Camptodactyly of finger, Symphalangism affecting the phalanges of the hand, Syno...	ORPHA:3248
Congenital Disorder Of Glycosylation, Type Iil	Peau d'orange, Ventricular septal defect, Postaxial polydactyly, Splenomegaly, Esophageal varix, ...	OMIM:614576
Charcot-Marie-Tooth Disease, Type 4B3	Syndactyly, Skeletal muscle atrophy, Pes planus, Upper limb muscle weakness, Distal lower limb mu...	OMIM:615284
Ellis-Van Creveld Syndrome	Delayed eruption of teeth, Natal tooth, Atrial septal defect, Abnormality of the alveolar ridges,...	OMIM:225500
Myopathy, Myofibrillar, 7	Skeletal muscle atrophy, Tongue atrophy, Multiple joint contractures, Increased Z-disc width, Sho...	OMIM:617114
Autosomal Recessive Stickler Syndrome	Epiphyseal dysplasia, Micrognathia, Cleft palate, Genu valgum, Joint hyperflexibility, Abnormal e...	ORPHA:250984
Meier-Gorlin Syndrome 7	Bowing of the legs, Heart block, Anteriorly placed anus, Copper beaten skull, High palate, Atrial...	OMIM:617063
Cartilage-Hair Hypoplasia	Joint laxity, Metaphyseal dysplasia, Anal stenosis, Aganglionic megacolon, Malabsorption, Esophag...	OMIM:250250
Blepharo-Cheilo-Odontic Syndrome	Finger syndactyly, Conical tooth, Carious teeth, Bilateral cleft lip and palate, Anal atresia	ORPHA:1997
Microphthalmia, Syndromic 8	Mandibular prognathia, Cleft upper lip, Cleft palate, Orofacial cleft, Widely-spaced maxillary ce...	OMIM:601349
7Q11.23 Microduplication Syndrome	Short lingual frenulum, Single transverse palmar crease, Congenital diaphragmatic hernia, Microgn...	ORPHA:96121
Chopra-Amiel-Gordon Syndrome	Thin upper lip vermilion, Joint hypermobility, Cleft lip, Delayed skeletal maturation, Pierre-Rob...	OMIM:619504
16Q24.3 Microdeletion Syndrome	Frontal bossing, Ventricular septal defect, Proximal placement of thumb, Micrognathia, Dilated ca...	ORPHA:261250
Nabais Sa-De Vries Syndrome, Type 1	Clinodactyly of the 5th finger, Brachycephaly, Smooth philtrum	OMIM:618828
Seckel Syndrome 1	Dental crowding, Abnormal finger flexion crease, Single transverse palmar crease, Selective tooth...	OMIM:210600
Osteoporosis-Pseudoglioma Syndrome	Osteopenia, Ventricular septal defect, Recurrent fractures, Metaphyseal widening, Osteoporosis, T...	OMIM:259770
Cranioectodermal Dysplasia 3	Joint laxity, Frontal bossing, Rhizomelia, Sandal gap, Postaxial polydactyly, Sagittal craniosyno...	OMIM:614099
Laron Syndrome	Limb undergrowth, Abnormal joint morphology, Short long bone, Delayed skeletal maturation	OMIM:262500
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome	Limited elbow movement, Micrognathia, Polyhydramnios, Narrow greater sciatic notch, Short phalanx...	ORPHA:508533
Silver-Russell Syndrome	Decreased muscle mass, Sandal gap, Dental crowding, Micrognathia, Lower limb asymmetry, Delayed s...	ORPHA:813
Cerebrooculonasal Syndrome	Frontal bossing, Postaxial polydactyly, Craniosynostosis, Proboscis, Postaxial hand polydactyly, ...	OMIM:605627
Orofaciodigital Syndrome Type 1	Micrognathia, Reduced bone mineral density, Lobulated tongue, High palate, Clinodactyly of the 5t...	ORPHA:2750
Fontaine Progeroid Syndrome	Mandibular prognathia, Bicuspid aortic valve, Micrognathia, High, narrow palate, Hypoplasia of th...	OMIM:612289
Duane-Radial Ray Syndrome	Preaxial polydactyly, Shoulder dislocation, Triphalangeal thumb, Atrial septal defect, Upper limb...	OMIM:607323
Oculomaxillofacial Dysostosis	Brachydactyly, Median cleft lip, Camptodactyly of finger, Abnormality of the dentition, Abnormali...	ORPHA:1794
Waardenburg Syndrome, Type 3	Mandibular prognathia, Scapular winging, Aganglionic megacolon, Camptodactyly of finger, Cutaneou...	OMIM:148820
Renpenning Syndrome 1	Mandibular prognathia, Micrognathia, Brachycephaly, Narrow foot, High palate, Short philtrum, Atr...	OMIM:309500
Mandibulofacial Dysostosis-Microcephaly Syndrome	Accessory oral frenulum, Micrognathia, Hypoplasia of the maxilla, Preaxial hand polydactyly, Trig...	ORPHA:79113
Hajdu-Cheney Syndrome	Osteopenia, Micrognathia, Absent frontal sinuses, Bone pain, Downturned corners of mouth, Periodo...	ORPHA:955
Cleft Palate-Stapes Fixation-Oligodontia Syndrome	Oligodontia of primary teeth, Tarsal synostosis, Cleft palate, Abnormality of the ankle, Carpal s...	ORPHA:2010
Neurofaciodigitorenal Syndrome	Mandibular prognathia, Abnormal distal phalanx morphology of finger, Abnormal oral mucosa morphol...	ORPHA:2673
Hemifacial Microsomia With Radial Defects	Short mandibular rami, Non-midline cleft lip, Orofacial cleft, Cleft palate, Triphalangeal thumb,...	OMIM:141400
Cronkhite-Canada Syndrome	Intestinal polyposis, Tapered finger, Malabsorption, Splenomegaly, Lymphedema, Hypogeusia, Furrow...	ORPHA:2930
Sotos Syndrome	Mandibular prognathia, Atrial septal defect, Joint laxity, Frontal bossing, Ventricular septal de...	OMIM:117550
Tetraploidy	Micrognathia, Radial club hand, Cleft palate, Short philtrum, Biparietal narrowing, Aplasia/Hypop...	ORPHA:3305
Retinitis Pigmentosa With Or Without Skeletal Anomalies	Metaphyseal dysplasia, Short metacarpal, Frontal bossing, Ventricular septal defect, Craniosynost...	OMIM:250410
Microphthalmia-Microtia-Fetal Akinesia Syndrome	Frontal bossing, Camptodactyly of finger, Polyhydramnios, Micrognathia, Limitation of joint mobil...	ORPHA:2547
Cirrhotic Cardiomyopathy	Prolonged QT interval, Elevated jugular venous pressure, Pulmonary edema, Left atrial enlargement...	ORPHA:57777
Thrombocytopenia, Paris-Trousseau Type	Micrognathia, Pyloric stenosis, Radial deviation of finger, Trigonocephaly, Clinodactyly	OMIM:188025
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome	Thin upper lip vermilion, Inguinal hernia, Flat occiput, Ventricular septal defect, Polyhydramnio...	ORPHA:1655
Neurodevelopmental Disorder With Epilepsy And Hemochromatosis	Delayed eruption of teeth, Skeletal muscle atrophy, Limb joint contracture, Tapered finger, Splen...	OMIM:301072
Cdags Syndrome	Frontal bossing, Delayed cranial suture closure, Sagittal craniosynostosis, Rectourethral fistula...	OMIM:603116
Pfeiffer Syndrome Type 2	Finger syndactyly, Broad hallux phalanx, Toe syndactyly, Cloverleaf skull, Intestinal malrotation...	ORPHA:93259
Marbach-Rustad Progeroid Syndrome	Reduced subcutaneous adipose tissue, Femur fracture, Delayed eruption of primary teeth, Micrognat...	OMIM:619322
Heart And Brain Malformation Syndrome	Prominent metopic ridge, Ventricular septal defect, Camptodactyly of finger, Polyhydramnios, High...	OMIM:616920
3Mc Syndrome 1	Conjunctival telangiectasia, Atrial septal defect, Omphalocele, Dental crowding, Single interphal...	OMIM:257920
Ring Chromosome 22 Syndrome	Edema, Protruding tongue, Lymphedema, 2-3 toe syndactyly, Large hands, Thick vermilion border, Do...	ORPHA:1446
Cerebellar Vermis Aplasia With Associated Features Suggesting Smith-Lemli-Opitz Syndrome And Meckel Syndrome	Postaxial polydactyly	OMIM:213010
Chromosome 17P13.3, Telomeric, Duplication Syndrome	Contracture of the proximal interphalangeal joint of the 3rd finger, Short metacarpal, Brachydact...	OMIM:612576
Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome	Thin upper lip vermilion, Congenital muscular torticollis, Congenital hip dislocation, Bicuspid a...	ORPHA:457279
Spondylocarpotarsal Synostosis Syndrome	Coxa vara, Clinodactyly of the 5th finger, Vertebral fusion, Scapular winging, Short metacarpal, ...	OMIM:272460
Cebalid Syndrome	Turricephaly, Congenital diaphragmatic hernia, Platystencephaly, Brachycephaly, Plagiocephaly, Hi...	OMIM:618774
Yuan-Harel-Lupski Syndrome	Joint laxity, Thin upper lip vermilion, Pes planus, Sandal gap, Bicuspid aortic valve, Ventricula...	OMIM:616652
Sarcoidosis, Susceptibility To, 1	Generalized lymphadenopathy, Pericardial effusion, Mediastinal lymphadenopathy, Splenomegaly, Clu...	OMIM:181000
Cri-Du-Chat Syndrome	Microretrognathia, Syndactyly, Short metacarpal, Inguinal hernia, Pes planus, Single transverse p...	OMIM:123450
Multinucleated Neurons, Anhydramnios, Renal Dysplasia, Cerebellar Hypoplasia, And Hydranencephaly	Microretrognathia, Single transverse palmar crease, 2-3 toe syndactyly, Oligohydramnios, Cutaneou...	OMIM:236500
Congenital Disorder Of Glycosylation, Type Iit	Tented upper lip vermilion, Sandal gap, Small hand, Brachycephaly, Short foot, Short philtrum, Th...	OMIM:618885
Bartsocas-Papas Syndrome	Finger syndactyly, Toe syndactyly, Median cleft lip, Talipes, Absent thumb, Aplasia/Hypoplasia of...	ORPHA:1234
Autosomal Recessive Multiple Pterygium Syndrome	Skeletal muscle atrophy, Multiple pterygia, Micrognathia, Orofacial cleft, Symphalangism affectin...	ORPHA:2990
Mckusick-Kaufman Syndrome	Finger syndactyly, Aganglionic megacolon, Tarsal synostosis, Ventricular septal defect, Postaxial...	ORPHA:2473
Neurodevelopmental, Jaw, Eye, And Digital Syndrome	Mandibular prognathia, Inguinal hernia, Sandal gap, Micrognathia, 2-3 toe syndactyly, Small thena...	OMIM:618914
Rhombencephalosynapsis	Microretrognathia, Finger syndactyly, Aganglionic megacolon, Esophageal atresia, Tracheoesophagea...	ORPHA:59315
Meier-Gorlin Syndrome 2	Joint hypermobility, Micrognathia, Dolichocephaly, Delayed skeletal maturation, Patellar aplasia,...	OMIM:613800
Brachydactyly-Short Stature-Retinitis Pigmentosa Syndrome	Hallux valgus, Frontal bossing, Short metacarpal, Inguinal hernia, Ventricular septal defect, Pes...	ORPHA:166035
Basal Cell Nevus Syndrome 1	Mandibular prognathia, Vertebral fusion, Odontogenic keratocysts of the jaw, Frontal bossing, Dow...	OMIM:109400
Brachydactyly, Coloboma, And Anterior Segment Dysgenesis	Syndactyly, Clinodactyly, Brachydactyly	OMIM:610023
Hand-Foot-Genital Syndrome	Shortening of all middle phalanges of the fingers, Ventricular septal defect, Short hallux, Proxi...	ORPHA:2438
Bent Bone Dysplasia Syndrome 1	Bent long bone, Natal tooth, Micrognathia, Hypoplastic pubic bone, Gingival overgrowth, Hepatospl...	OMIM:614592
Short Rib-Polydactyly Syndrome, Verma-Naumoff Type	Omphalocele, Frontal bossing, Micromelia, Cleft upper lip, Micrognathia, Preaxial hand polydactyl...	ORPHA:93271
Keratoconus Posticus Circumscriptus	Limited elbow extension and supination, Cleft upper lip, Cleft palate, Clinodactyly of the 5th fi...	OMIM:244600
9P13 Microdeletion Syndrome	Microretrognathia, Joint stiffness, Brachycephaly, High palate, Metopic synostosis, Clinodactyly ...	ORPHA:324313
Zaki Syndrome	Toe syndactyly, Congenital diaphragmatic hernia, Micrognathia, Long fingers, Wide mouth, Median p...	OMIM:619648
6P22 Microdeletion Syndrome	Finger syndactyly, Clinodactyly, Hernia, Abnormal palate morphology	ORPHA:251046
19Q13.11 Microdeletion Syndrome	Finger syndactyly, Toe syndactyly, Congenital hip dislocation, Ventricular septal defect, Wide mo...	ORPHA:217346
Osteogenesis Imperfecta, Type Xi	Osteopenia, Joint laxity, Protrusio acetabuli, Recurrent fractures, Brachycephaly, Coxa vara, Inc...	OMIM:610968
Warsaw Breakage Syndrome	Ventricular septal defect, Single transverse palmar crease, 2-3 toe syndactyly, Wide mouth, High ...	OMIM:613398
Cerebrocostomandibular Syndrome	Congenital hip dislocation, Polyhydramnios, Micrognathia, Anteriorly placed anus, Glossoptosis, H...	OMIM:117650
Emanuel Syndrome	Congenital hip dislocation, Dental crowding, Congenital diaphragmatic hernia, Micrognathia, High ...	OMIM:609029
Laurin-Sandrow Syndrome	Syndactyly, Absent radius, Patellar aplasia, Short foot, Hand polydactyly, Triphalangeal thumb, B...	OMIM:135750
Peroxisome Biogenesis Disorder 1A (Zellweger)	Ulnar deviation of the hand, Ventricular septal defect, Single transverse palmar crease, Rocker b...	OMIM:214100
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 4	Hallux valgus, Everted upper lip vermilion, Sandal gap, Rocker bottom foot, Single transverse pal...	OMIM:619951
1Q21.1 Microdeletion Syndrome	Broad hallux phalanx, Inguinal hernia, Toe syndactyly, Frontal bossing, Short foot, Joint hyperfl...	ORPHA:250989
Blepharocheilodontic Syndrome 2	Tooth agenesis, Cleft lip, Conical tooth, Cutaneous syndactyly	OMIM:617681
Mosaic Variegated Aneuploidy Syndrome 1	Micrognathia, Embryonal rhabdomyosarcoma, Cleft palate, Oligohydramnios, Brachycephaly, Short ste...	OMIM:257300
Mitochondrial Trifunctional Protein Deficiency	Pes cavus, Tricuspid regurgitation, Equinovarus deformity, Equinus calcaneus, Congestive heart fa...	ORPHA:746
Mandibuloacral Dysplasia	Loss of subcutaneous adipose tissue in limbs, Dental crowding, Lipoatrophy, Increased subcutaneou...	ORPHA:2457
Native American Myopathy	Joint laxity, Skeletal muscle atrophy, Muscle fiber atrophy, Micrognathia, Abnormality of skeleta...	ORPHA:168572
8Q22.1 Microdeletion Syndrome	Finger syndactyly, Sandal gap, Camptodactyly of finger, Craniosynostosis, Abnormality of the dent...	ORPHA:178303
Lethal Kniest-Like Dysplasia	Abnormal ischium morphology, Broad long bones, Edema, Mesomelic/rhizomelic limb shortening, Hypop...	ORPHA:2347
Bartsocas-Papas Syndrome 2	2-5 finger cutaneous syndactyly, Accessory oral frenulum, Micrognathia, Small hand, Antecubital p...	OMIM:619339
Peroxisome Biogenesis Disorder 5A (Zellweger)	Aortic regurgitation, Persistent open anterior fontanelle, Tricuspid regurgitation, Ventricular s...	OMIM:614866
Cardiomyopathy, Dilated, 2D	Perinuclear cardiomyocyte vacuolization, Tricuspid regurgitation, Muscular ventricular septal def...	OMIM:619371
Microcephaly-Facial Dysmorphism-Ocular Anomalies-Multiple Congenital Anomalies Syndrome	Mandibular prognathia, Prominent metopic ridge, Tented upper lip vermilion, Tapered finger, Long ...	ORPHA:521445
Cerebellofaciodental Syndrome	Pes planus, Ventricular septal defect, Single transverse palmar crease, Tapered finger, Delayed s...	OMIM:616202
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome	Finger syndactyly, Frontal bossing, Toe syndactyly, Telangiectasia of the skin, Wide mouth, Joint...	ORPHA:60040
Microcephaly-Cleft Palate-Abnormal Retinal Pigmentation Syndrome	Mandibular prognathia, Camptodactyly of finger, Micrognathia, Submucous cleft hard palate, Cleft ...	ORPHA:2521
Roberts-Sc Phocomelia Syndrome	Polyhydramnios, Micrognathia, Brachycephaly, Tetraphocomelia, Knee flexion contracture, High pala...	OMIM:268300
Congenital Lactic Acidosis, Saguenay-Lac-Saint-Jean Type	Congestive heart failure, Hypertrophic cardiomyopathy, Brachycephaly, Abnormal heart morphology	ORPHA:70472
Schizophrenia 1	Syndactyly, Flat occiput, Frontal bossing, Short proximal phalanx of the 4th toe	OMIM:181510
Lymphoproliferative Syndrome 1	Pericardial effusion, Splenomegaly, Lymphadenopathy, Stomatitis, Pleural effusion	OMIM:613011
Phosphoribosylaminoimidazole Carboxylase Deficiency	Polyhydramnios, Missing ribs, Esophageal atresia, Tracheoesophageal fistula, Brachycephaly, Talip...	OMIM:619859
Marshall-Smith Syndrome	Irregular dentition, Large sternal ossification centers, Accelerated skeletal maturation, Distal ...	OMIM:602535
Dysosteosclerosis	Osteopenia, Sclerosis of hand bone, Micrognathia, Absent frontal sinuses, Hypoplastic vertebral b...	OMIM:224300
Craniometadiaphyseal Dysplasia, Wormian Bone Type	Osteopenia, Obtuse angle of mandible, Increased bone mineral density, Coxa valga, Short tubular b...	ORPHA:85184
Seckel Syndrome 5	11 pairs of ribs, Pes planus, Selective tooth agenesis, Micrognathia, Delayed skeletal maturation...	OMIM:613823
Peripheral Dysostosis	Hip osteoarthritis, Short phalanx of finger, Cone-shaped epiphyses of the phalanges of the hand	OMIM:170700
Alpha-Mannosidosis, Infantile Form	Mandibular prognathia, Osteopenia, Brachycephaly, Cortical thickening of long bone diaphyses, Wid...	ORPHA:309282
Rubinstein-Taybi Syndrome	Finger syndactyly, Broad hallux phalanx, Abnormal distal phalanx morphology of finger, Polyhydram...	ORPHA:783
Progressive Pseudorheumatoid Dysplasia	Arthropathy, Enlarged epiphyses, Enlarged interphalangeal joints, Camptodactyly of finger, Joint ...	OMIM:208230
Kleefstra Syndrome Due To 9Q34 Microdeletion	Aortic regurgitation, Inguinal hernia, Flat occiput, Femoral hernia, Protruding tongue, Brachycep...	ORPHA:96147
Short Stature, Auditory Canal Atresia, Mandibular Hypoplasia, And Skeletal Abnormalities	Hypoplasia of the ulna, Short humerus, Hypoplastic scapulae, Rhizomelia, Micrognathia, Flared met...	OMIM:602471
Braddock-Carey Syndrome 2	Pierre-Robin sequence, Cleft palate, Wide mouth, Clinodactyly, Retrognathia	OMIM:619981
Diamond-Blackfan Anemia 21	Hallux valgus, Aortic regurgitation, Pes planus, Sandal gap, Tapered finger, Secundum atrial sept...	OMIM:620072
Meckel Syndrome, Type 4	Bowing of the long bones, Ventricular septal defect, Postaxial hand polydactyly, Cleft palate, At...	OMIM:611134
Pallister-Hall Syndrome	Anteriorly placed anus, Neonatal death, Distal shortening of limbs, Syndactyly, Mesoaxial foot po...	OMIM:146510
Conotruncal Heart Malformations	Broad hallux, Postaxial polydactyly, Complete atrioventricular canal defect, Double outlet right ...	OMIM:217095
Shprintzen-Goldberg Syndrome	Osteopenia, Micrognathia, Hypoplasia of the maxilla, High, narrow palate, Arachnodactyly, Joint h...	ORPHA:2462
Phaver Syndrome	Broad hallux phalanx, Ventricular septal defect, Camptodactyly of finger, Joint stiffness, Short ...	ORPHA:2876
Neurodevelopmental Disorder With Hypotonia, Microcephaly, And Seizures	Thin upper lip vermilion, Prominent metopic ridge, Skeletal muscle atrophy, Polyhydramnios, Incre...	OMIM:618862
Nievergelt Syndrome	Tarsal synostosis, Radial head subluxation, Genu valgum, Radioulnar synostosis, Talipes equinovar...	OMIM:163400
Radio-Tartaglia Syndrome	Thin upper lip vermilion, Frontal bossing, Pes planus, Dental crowding, Ventricular septal defect...	OMIM:619312
Doors Syndrome	Short lingual frenulum, Polyhydramnios, Abnormal finger morphology, Brachycephaly, Downturned cor...	ORPHA:79500
Progressive Non-Infectious Anterior Vertebral Fusion	Proximal radio-ulnar synostosis, Micrognathia, Joint stiffness, Bone pain, Brachycephaly, Wide mo...	ORPHA:2062
Meckel Syndrome, Type 11	Polydactyly, Oligohydramnios	OMIM:615397
8P23.1 Microdeletion Syndrome	Broad hallux phalanx, Pes planus, Proximal placement of thumb, Tapered finger, Micrognathia, Cong...	ORPHA:251071
Brachyolmia Type 4 With Mild Epiphyseal And Metaphyseal Changes	Brachydactyly, Lower limb undergrowth, Bowing of the legs	OMIM:612847
Postaxial Polydactyly-Dental And Vertebral Anomalies Syndrome	Mandibular prognathia, Vertebral fusion, Congenital muscular torticollis, Vaginal hernia, Macrodo...	ORPHA:2916
Orofaciodigital Syndrome Iii	Postaxial hand polydactyly, Supernumerary tooth, Tongue nodules, Postaxial foot polydactyly, Shor...	OMIM:258850
Dihydropyrimidine Dehydrogenase Deficiency	Delayed eruption of teeth, Epiphyseal dysplasia, Micromelia, Deep philtrum, Deep palmar crease, H...	ORPHA:1675
Helsmoortel-Van Der Aa Syndrome	High, narrow palate, Posterior plagiocephaly, Oligodontia, Widely spaced teeth, Short 4th toe, Ad...	OMIM:615873
Ectodermal Dysplasia-Syndactyly Syndrome 1	2-4 finger syndactyly, Conical tooth, 2-3 toe cutaneous syndactyly, 4-5 toe syndactyly, Cutaneous...	OMIM:613573
Pterygium Colli-Intellectual Disability-Digital Anomalies Syndrome	Enlarged interphalangeal joints, Proximal placement of thumb, Plantar edema, Abnormality of the e...	ORPHA:2988
Hartsfield Syndrome	Craniosynostosis, Non-midline cleft lip, Split hand, Cleft palate, Aplasia/Hypoplasia of the radius	ORPHA:2117
9Q33.3Q34.11 Microdeletion Syndrome	Prominent metopic ridge, Single transverse palmar crease, Epistaxis, Patellar aplasia, Tented phi...	ORPHA:495818
Bardet-Biedl Syndrome 9	Syndactyly, Postaxial polydactyly, Postaxial hand polydactyly, Postaxial foot polydactyly, Polyda...	OMIM:615986
Spondylometaphyseal Dysplasia With Corneal Dystrophy	Brachydactyly, Metaphyseal widening, Squared iliac bones, Short long bone, Short ribs, Limb under...	OMIM:618961
Congenital Tricuspid Valve Dysplasia	Tricuspid regurgitation, Cardiomegaly, Pericardial effusion, Anomalous pulmonary venous return, A...	ORPHA:555874
Pontocerebellar Hypoplasia, Type 3	High, narrow palate, Brachycephaly, Downturned corners of mouth, High palate, Long philtrum	OMIM:608027
Sifrim-Hitz-Weiss Syndrome	Wormian bones, Ventricular septal defect, Trigonocephaly, Tapered finger, Flat acetabular roof, A...	OMIM:617159
Spondyloepimetaphyseal Dysplasia, Aggrecan Type	Mandibular prognathia, Joint laxity, Midface retrusion, Rhizomelia, Metaphyseal widening, Irregul...	OMIM:612813
Neurodevelopmental Disorder With Growth Retardation, Dysmorphic Facies, And Corpus Callosum Abnormalities	Smooth philtrum, Ulnar deviation of the hand, Ventricular septal defect, Proximal placement of th...	OMIM:620113
Genitopalatocardiac Syndrome	Congenital diaphragmatic hernia, Micrognathia, Postaxial hand polydactyly, Non-midline cleft lip,...	ORPHA:2075
Meckel Syndrome, Type 2	Omphalocele, Bowing of the long bones, Intestinal malrotation, Postaxial hand polydactyly, Cleft ...	OMIM:603194
Acalvaria	Omphalocele, Talipes, Postaxial hand polydactyly, Cleft palate, Calvarial skull defect	ORPHA:945
Mosaic Trisomy 16	Syndactyly, Ventricular septal defect, Single transverse palmar crease, Short thumb, Abnormal hea...	ORPHA:1708
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked	U-Shaped upper lip vermilion, Mandibular prognathia, Ventricular septal defect, Coxa valga, Taper...	OMIM:301040
X-Linked Intellectual Disability Due To Gria3 Mutations	Mandibular prognathia, Joint laxity, Pes planus, Genu recurvatum, Facial hypotonia, Brachycephaly...	ORPHA:364028
Mend Syndrome	Microretrognathia, Overlapping toe, Broad hallux, Micrognathia, Long fingers, 2-3 toe syndactyly,...	OMIM:300960
Microcephaly, Short Stature, And Limb Abnormalities	11 pairs of ribs, Short metacarpal, Brachydactyly, Delayed skeletal maturation, Hypoplasia of the...	OMIM:617604
Acrocraniofacial Dysostosis	Turricephaly, Craniosynostosis, Tapered finger, Coxa valga, Micrognathia, Cleft palate, Ulnar dev...	ORPHA:949
Nager Syndrome	Aplasia/Hypoplasia of the thumb, Micrognathia, Hypoplasia of the maxilla, Joint stiffness, Non-mi...	ORPHA:245
Temple Syndrome Due To Maternal Uniparental Disomy Of Chromosome 14	Micrognathia, Pyloric stenosis, Small hand, Cleft palate, Short foot, High palate, Short philtrum...	ORPHA:96184
Proximal 16P11.2 Microdeletion Syndrome	Dextrocardia, Craniosynostosis, Micrognathia, Congenital diaphragmatic hernia, Pyloric stenosis, ...	ORPHA:261197
Zimmermann-Laband Syndrome	Hallux valgus, Pes planus, Micrognathia, Splenomegaly, Supernumerary tooth, Gingival fibromatosis...	ORPHA:3473
Epidermolysis Bullosa, Lethal Acantholytic	Syndactyly, Natal tooth, Sandal gap, Widely spaced toes, Neonatal death, Mitten deformity, Clinod...	OMIM:609638
Ehlers-Danlos Syndrome, Dermatosparaxis Type	Osteopenia, Joint laxity, Inguinal hernia, Frontal open bite, Delayed closure of the anterior fon...	OMIM:225410
Keutel Syndrome	Ventricular septal defect, Recurrent sinusitis, Pulmonary arterial hypertension, Midface retrusio...	ORPHA:85202
Acrofacial Dysostosis, Catania Type	Microretrognathia, Finger syndactyly, Brachydactyly, Inguinal hernia, Abnormality of the dentitio...	ORPHA:1786
Feingold Syndrome 1	Polyhydramnios, Micrognathia, Asplenia, High palate, Accessory spleen, Short thumb, Short toe, Es...	OMIM:164280
Focal Dermal Hypoplasia	Abnormal palmar dermatoglyphics, Congenital diaphragmatic hernia, Hernia, Finger syndactyly, Abno...	ORPHA:2092
Blepharonasofacial Malformation Syndrome	Finger syndactyly, Inguinal hernia, Non-midline cleft lip, Cleft palate, Tooth agenesis, Joint hy...	ORPHA:1252
Chromosome 15Q25 Deletion Syndrome	Inguinal hernia, Tented upper lip vermilion, Ventricular septal defect, Dextrocardia, Congenital ...	OMIM:614294
Syndromic Multisystem Autoimmune Disease Due To Itch Deficiency	Frontal bossing, Portal hypertension, Dolichocephaly, Hypersplenism, Hepatosplenomegaly, Prominen...	ORPHA:228426
Fgfr2-Related Bent Bone Dysplasia	Osteopenia, Natal tooth, Hypoplastic ischia, Bowing of the legs, Micrognathia, Abnormality of the...	ORPHA:313855
Rabson-Mendenhall Syndrome	Mandibular prognathia, Atrial septal defect, Reduced subcutaneous adipose tissue, Dental crowding...	ORPHA:769
Loeys-Dietz Syndrome 1	Joint laxity, Arachnodactyly, Bicuspid aortic valve, Eosinophilic infiltration of the esophagus, ...	OMIM:609192
Spondylodysplastic Ehlers-Danlos Syndrome	Joint dislocation, Osteopenia, Abnormality of the temporomandibular joint, Multiple joint contrac...	ORPHA:536471
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 3	Polydactyly, Hypoplastic ischia	OMIM:616910
Neurodevelopmental Disorder With Cataracts, Poor Growth, And Dysmorphic Facies	Microretrognathia, Frontal bossing, Overlapping toe, Dolichocephaly, Cleft lip, Deep philtrum, Cl...	OMIM:618571
Distal Deletion 19P	Long toe, Vaginal hernia, Ventricular septal defect, Arachnodactyly, Hypoplasia of the maxilla, C...	ORPHA:96129
Metaphyseal Chondromatosis With D-2-Hydroxyglutaric Aciduria	Multiple joint contractures, Secundum atrial septal defect, Metaphyseal widening, Subarterial ven...	ORPHA:99646
Neurodevelopmental Disorder With Coarse Facies And Mild Distal Skeletal Abnormalities	Mandibular prognathia, Syndactyly, Abnormality of the dentition, Broad palm, Wide mouth, Thick ve...	OMIM:618505
Smith-Mccort Dysplasia 1	Short metacarpal, Multicentric femoral head ossification, Iliac crest serration, Hypoplastic scap...	OMIM:607326
Pontocerebellar Hypoplasia, Type 1B	Skeletal muscle atrophy, Tongue atrophy, Abnormal foot morphology, Flexion contracture, Hip dislo...	OMIM:614678
Rubinstein-Taybi Syndrome 1	Plantar crease between first and second toes, Dental crowding, Single transverse palmar crease, P...	OMIM:180849
Autosomal Recessive Cerebellar Ataxia-Epilepsy-Intellectual Disability Syndrome Due To Tud Deficiency	Brachycephaly	ORPHA:404493
14Q22Q23 Microdeletion Syndrome	Finger syndactyly, Toe syndactyly, Micrognathia, Delayed skeletal maturation, Brachycephaly, Shor...	ORPHA:264200
Short-Rib Thoracic Dysplasia 11 With Or Without Polydactyly	Short long bone, Polyhydramnios, Postaxial polydactyly, Brachydactyly	OMIM:615633
Cone-Rod Dystrophy 16	Postaxial polydactyly	OMIM:614500
Heart Defect-Tongue Hamartoma-Polysyndactyly Syndrome	2-3 finger syndactyly, Hamartoma of tongue, Subvalvular aortic stenosis	ORPHA:1338
Weiss-Kruszka Syndrome	Prominent metopic ridge, Exaggerated cupid's bow, Single transverse palmar crease, Proximal place...	OMIM:618619
Pycnodysostosis	Frontal bossing, Persistent open anterior fontanelle, Increased bone mineral density, Aplastic cl...	OMIM:265800
Meckel Syndrome, Type 3	Postaxial foot polydactyly, Postaxial hand polydactyly, Polydactyly, Cleft palate	OMIM:607361
Stankiewicz-Isidor Syndrome	Ventricular septal defect, Absent thumb, Micrognathia, Short thumb, 2-3 toe syndactyly, Truncus a...	OMIM:617516
Trichorhinophalangeal Syndrome, Type I	Osteopenia, Micrognathia, Deep philtrum, Osteoarthritis, Short metatarsal, Cone-shaped epiphyses ...	OMIM:190350
Hyperparathyroidism, Transient Neonatal	Osteopenia, Frontal bossing, Wide cranial sutures, Short femur, Inguinal hernia, Metaphyseal spur...	OMIM:618188
Pulmonary Non-Tuberculous Mycobacterial Infection	Pericardial effusion, Pleural effusion, Lymphadenopathy	ORPHA:411703
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia	11 pairs of ribs, Frontal bossing, Rhizomelia, Metaphyseal cupping of proximal phalanges, Metaphy...	OMIM:300863
Sclerosteosis 1	Mandibular prognathia, Syndactyly, Frontal bossing, Facial palsy, Sclerotic scapulae, 2-3 finger ...	OMIM:269500
Vertical Talus, Congenital	Arthritis, Calcaneovalgus deformity, Rocker bottom foot, Equinus calcaneus	OMIM:192950
Congenital Disorder Of Glycosylation, Type Iie	Skeletal muscle atrophy, Protruding tongue, Secundum atrial septal defect, Congestive heart failu...	OMIM:608779
Cleidocranial Dysplasia, Recessive Form	Brachycephaly	OMIM:216330
Spondyloepiphyseal Dysplasia Tarda	Abnormality of the tibial plateaux, Osteoarthritis of the distal interphalangeal joint, Limited e...	ORPHA:93284
Duane Retraction Syndrome	Aplasia/Hypoplasia of the thumb, Skeletal muscle atrophy, Micrognathia, Absent radius, Preaxial h...	ORPHA:233
Maternal Phenylketonuria	Ventricular septal defect, Bifid distal phalanx of the thumb, Micrognathia, Esophageal atresia, D...	ORPHA:2209
Gomez-Lopez-Hernandez Syndrome	Turricephaly, Craniosynostosis, Brachycephaly, Thin vermilion border, High palate, Skull asymmetr...	OMIM:601853
Bardet-Biedl Syndrome 1	Syndactyly, Dental crowding, Aganglionic megacolon, Postaxial polydactyly, High, narrow palate, P...	OMIM:209900
Intellectual Developmental Disorder, X-Linked, Syndromic, Turner Type	Skeletal muscle atrophy, Micrognathia, Flexion contracture, Brachycephaly, Oligodontia, High pala...	OMIM:309590
Lymphatic Malformation 8	Nonimmune hydrops fetalis, Polyhydramnios, Pericardial effusion, Stillbirth, Pleural effusion, Ge...	OMIM:618773
Tbck-Related Intellectual Disability Syndrome	11 pairs of ribs, Broad toe, Prominent metopic ridge, Tented upper lip vermilion, Ventricular sep...	ORPHA:488632
Banki Syndrome	Clinodactyly of the 5th finger, Brachydactyly, Synostosis of carpal bones, Abnormal metacarpal mo...	ORPHA:1228
Aicardi-Goutieres Syndrome 9	Pericarditis, Portal hypertension, Edema, Pericardial effusion, Osteoporosis, Hepatosplenomegaly,...	OMIM:619487
X-Linked Intellectual Disability, Snyder Type	Long toe, Mandibular prognathia, Decreased muscle mass, Dental crowding, Arachnodactyly, Recurren...	ORPHA:3063
Chromosome 17Q11.2 Duplication Syndrome, 1.4-Mb	Thin upper lip vermilion, Bilateral cleft lip and palate, Mitral valve prolapse, High palate, Mal...	OMIM:618874
Hurler Syndrome	Frontal bossing, Angina pectoris, Camptodactyly of finger, Abnormal heart valve morphology, Abnor...	ORPHA:93473
Emanuel Syndrome	Congenital hip dislocation, Dental crowding, Multiple joint contractures, Congenital diaphragmati...	ORPHA:96170
Kinsship Syndrome	Mandibular prognathia, Thin upper lip vermilion, Osteopenia, Pes planus, Single transverse palmar...	OMIM:619297
Ectodermal Dysplasia With Mental Retardation And Syndactyly	Open mouth, 3-4 finger syndactyly, 2-3 toe syndactyly	OMIM:600906
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins	Bicuspid aortic valve, Parachute mitral valve, Micrognathia, Asplenia, Polyhydramnios, Brachyceph...	OMIM:265380
Simpson-Golabi-Behmel Syndrome, Type 1	Mandibular prognathia, Congenital diaphragmatic hernia, Polyhydramnios, Accelerated skeletal matu...	OMIM:312870
Rahman Syndrome	Accelerated skeletal maturation, Talipes equinovarus, Camptodactyly	OMIM:617537
Primary Intestinal Lymphangiectasia	Edema, Pericardial effusion, Abnormal lymphatic vessel morphology, Pleural effusion, Abnormal sma...	ORPHA:90362
Congenital Contractural Arachnodactyly	Arachnodactyly, Camptodactyly of finger, Intestinal malrotation, Joint stiffness, Flexion contrac...	ORPHA:115
Coffin-Siris Syndrome 1	Single transverse palmar crease, Congenital diaphragmatic hernia, Conical tooth, Brachycephaly, P...	OMIM:135900
Diamond-Blackfan Anemia 7	Osteopenia, Small hypothenar eminence, Ventricular septal defect, Polyhydramnios, Secundum atrial...	OMIM:612562
Hyperphosphatasia With Impaired Intellectual Development Syndrome 2	Anal stenosis, Tented upper lip vermilion, Broad hallux, Aganglionic megacolon, Cleft palate, Sho...	OMIM:614749
Cleidocranial Dysplasia 1	Persistent open anterior fontanelle, Micrognathia, Short middle phalanx of the 2nd finger, High, ...	OMIM:119600
Kbg Syndrome	Syndactyly, Vertebral fusion, Tented upper lip vermilion, Macrodontia, Single transverse palmar c...	OMIM:148050
Joubert Syndrome 33	Splenomegaly, Syndactyly	OMIM:617767
Hereditary Sensory And Autonomic Neuropathy Due To Tecpr2 Mutation	Dental crowding, Brachycephaly, Hypomimic face	ORPHA:320385
Postaxial Acrofacial Dysostosis	Syndactyly, Hypoplasia of the ulna, Congenital hip dislocation, Conical tooth, Cleft upper lip, S...	OMIM:263750
Spondyloepimetaphyseal Dysplasia, X-Linked	Hypoplasia of the maxilla, Long fibula, Short palm, Short phalanx of finger, Broad metacarpals, G...	OMIM:300106
Chromosome 15Q14 Deletion Syndrome	Tented upper lip vermilion, Ventricular septal defect, Cleft lip, Cleft palate, Short philtrum, E...	OMIM:616898
Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 2	Hydrops fetalis, Cleft palate, Radioulnar synostosis, Short middle phalanx of the 4th finger, Ove...	OMIM:616738
Al-Gazali Syndrome	Proximal radio-ulnar synostosis, Osteopenia, Bowed humerus, Recurrent fractures, Polyhydramnios, ...	OMIM:609465
Mandibuloacral Dysplasia With Type B Lipodystrophy	Loss of subcutaneous adipose tissue in limbs, Decreased adipose tissue around neck, Dental crowdi...	OMIM:608612
Contractures, Pterygia, And Spondylocarpotarsal Fusion Syndrome 1B	Fused thoracic vertebrae, Tarsal synostosis, Flexion contracture, Absent phalangeal crease, Antec...	OMIM:618469
Blomstrand Lethal Chondrodysplasia	Natal tooth, Short metacarpal, Bowing of the long bones, Rhizomelia, Increased bone mineral densi...	ORPHA:50945
Paternal Uniparental Disomy Of Chromosome 5	Polyhydramnios, Secundum atrial septal defect, Rhizomelic arm shortening, Posterior plagiocephaly...	ORPHA:96190
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 1	Joint dislocation, Osteopenia, Genu recurvatum, Single transverse palmar crease, Micrognathia, Ac...	OMIM:130070
Marshall-Smith Syndrome	Bowing of the long bones, Craniosynostosis, Protruding tongue, Accelerated skeletal maturation, G...	ORPHA:561
Acute Interstitial Pneumonia	Pericardial effusion, Lymphadenopathy, Hypertension, Peripheral edema, Pleural effusion	ORPHA:79126
Cerebellar-Facial-Dental Syndrome	Inguinal hernia, Ventricular septal defect, Single transverse palmar crease, Foot joint contractu...	ORPHA:444072
Fibrochondrogenesis 2	Frontal bossing, Micrognathia, Hypoplastic ilia, Metaphyseal widening, Hypoplastic pubic bone, Sh...	OMIM:614524
Femoral-Facial Syndrome	Short fourth metatarsal, Limited elbow movement, Micrognathia, Humeroradial synostosis, Absent ve...	OMIM:134780
Neurodevelopmental Disorder With Hypotonia, Craniofacial Abnormalities, And Seizures	Broad jaw, Exaggerated cupid's bow, Bicuspid aortic valve, Tapered finger, Micrognathia, Wide mou...	OMIM:614501
Elsahy-Waters Syndrome	Mandibular prognathia, Hypoplasia of the maxilla, Brachycephaly, Anteriorly placed anus, Cutaneou...	OMIM:211380
Monosomy 9P	Proximal placement of thumb, Abnormality of the dentition, Abnormality of the tarsal bones, Narro...	ORPHA:261112
Cranioectodermal Dysplasia 4	Frontal bossing, Joint hypermobility, Sagittal craniosynostosis, Hip dysplasia, Cutaneous finger ...	OMIM:614378
Hypoglossia With Situs Inversus	Micrognathia, Situs inversus totalis, Asplenia, High palate, Hypodontia, Polysplenia, Narrow mout...	OMIM:612776
Osteogenesis Imperfecta, Type Xvi	Angulated humerus, Microretrognathia, Bowing of the long bones, Osteopenia, Rhizomelia, Recurrent...	OMIM:616229
Cerebellar Ataxia-Hypogonadism Syndrome	Clinodactyly of the 5th finger, Brachycephaly	ORPHA:1173
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate	Ventricular septal defect, Selective tooth agenesis, Conical tooth, Cleft upper lip, Hypoplasia o...	OMIM:106260
Cleft Lip/Palate-Ectodermal Dysplasia Syndrome	Finger syndactyly, Toe syndactyly, Bilateral single transverse palmar creases, Abnormal dental mo...	ORPHA:3253
Crouzon Syndrome	Frontal bossing, Turricephaly, Hypoplasia of the maxilla, Brachycephaly, Narrow palate, Multiple ...	ORPHA:207
Neurooculocardiogenitourinary Syndrome	Tricuspid regurgitation, Ventricular septal defect, Cardiomegaly, Patent foramen ovale, Downturne...	OMIM:618652
Orofaciodigital Syndrome X	Coalescence of tarsal bones, Preaxial hand polydactyly, Hand oligodactyly, Cleft palate, Retrogna...	OMIM:165590
Crane-Heise Syndrome	Finger syndactyly, Abnormally ossified vertebrae, Toe syndactyly, Hypoplastic scapulae, Aplastic ...	ORPHA:1512
Neurodevelopmental Disorder With Or Without Autistic Features And/Or Structural Brain Abnormalities	Downturned corners of mouth, Deep philtrum, Brachycephaly	OMIM:618859
Neuropathy, Hereditary Sensory And Autonomic, Type Ix, With Developmental Delay	Dental crowding, Brachycephaly, Hypomimic face	OMIM:615031
Trisomy 18	Congenital diaphragmatic hernia, Hernia, Atrial septal defect, Bilateral single transverse palmar...	ORPHA:3380
Galloway-Mowat Syndrome 1	Midface retrusion, Flat occiput, Hiatus hernia, Micrognathia, Wide mouth, High palate, Talipes eq...	OMIM:251300
Acheiropody	Carpal bone aplasia, Short humerus, Peromelia, Aplasia of the phalanges of the hand, Aplasia of t...	OMIM:200500
Congenital Disorder Of Glycosylation, Type Ia	Osteopenia, Thin upper lip vermilion, Villous atrophy, Pericarditis, Nonimmune hydrops fetalis, E...	OMIM:212065
Nevus Comedonicus Syndrome	Finger syndactyly, Toe syndactyly, Preaxial polydactyly, Abnormal foot morphology	ORPHA:64754
Alopecia-Contractures-Dwarfism-Intellectual Disability Syndrome	Finger syndactyly, Turricephaly, Abnormal dental enamel morphology, Joint stiffness, Abnormality ...	ORPHA:1005
Congenital Rubella Syndrome	Atrial septal defect, Splenomegaly, Abnormal metaphysis morphology, Ventricular septal defect	ORPHA:290
Joubert Syndrome 37	Frontal bossing, Prominent metopic ridge, Postaxial polydactyly, High palate, Joint hypermobility	OMIM:619185
Blepharocheilodontic Syndrome 1	Cleft upper lip, Conical tooth, Cutaneous syndactyly, Hypodontia, Clinodactyly, Anal atresia	OMIM:119580
Hydrolethalus Syndrome 2	Micrognathia, Postaxial hand polydactyly, Cleft palate, Postaxial foot polydactyly, Preaxial foot...	OMIM:614120
H Syndrome	Hallux valgus, Pes planus, Lipodystrophy, Recurrent fractures, Cleft upper lip, Malabsorption, De...	ORPHA:168569
Oculodentodigital Dysplasia	Atrial septal defect, Selective tooth agenesis, Microdontia, Cleft upper lip, Carious teeth, 4-5 ...	OMIM:164200
Osteogenesis Imperfecta, Type Xxi	Pes planus, Recurrent fractures, Coxa valga, Bowing of the legs, Osteoporosis, Coxa vara, Pes val...	OMIM:619131
X-Linked Female Restricted Facial Dysmorphism-Short Stature-Choanal Atresia-Intellectual Disability	Osteopenia, Congenital hip dislocation, Brachycephaly, Abnormal periodontium morphology, High pal...	ORPHA:480880
Cayler Cardiofacial Syndrome	Tetralogy of Fallot, Ventricular septal defect	OMIM:125520
Lenz-Majewski Hyperostotic Dwarfism	Mandibular prognathia, Hyperextensibility of the finger joints, Micrognathia, Knee flexion contra...	OMIM:151050
Left Ventricular Noncompaction 1	Noncompaction cardiomyopathy, Atrial fibrillation, Ventricular septal defect, Left ventricular no...	OMIM:604169
Multiple Synostoses Syndrome 2	Vertebral fusion, Tarsal synostosis, Humeroradial synostosis, Finger symphalangism, Talipes equin...	OMIM:610017
2Q37 Microdeletion Syndrome	Finger syndactyly, Short metacarpal, Toe syndactyly, Brachydactyly, Frontal bossing, Congenital d...	ORPHA:1001
Telo2-Related Intellectual Disability-Neurodevelopmental Disorder	Microretrognathia, Hip contracture, Brachydactyly, Joint laxity, Overlapping toe, Rocker bottom f...	ORPHA:488642
X-Linked Intellectual Disability-Plagiocephaly Syndrome	Plagiocephaly, Brachycephaly, Flat occiput, Bradycardia	ORPHA:2898
Synostoses, Tarsal, Carpal, And Digital	Short metacarpal, Tarsal synostosis, Aplasia/Hypoplasia of the middle phalanges of the hand, Meta...	OMIM:186400
Lethal Short-Limb Skeletal Dysplasia, Al Gazali Type	Wormian bones, Shortening of all metacarpals, Shortening of all phalanges of fingers, Bilateral t...	OMIM:601356
Adnp Syndrome	Joint laxity, Thin upper lip vermilion, Inguinal hernia, Broad hallux, Single transverse palmar c...	ORPHA:404448
Monosomy 9Q22.3	Delayed eruption of teeth, Odontogenic keratocysts of the jaw, Rhabdomyosarcoma, Accelerated skel...	ORPHA:77301
Faciocardiomelic Syndrome	Osteopenia, Dysharmonic bone age, Micrognathia, Dental malocclusion, Wide mouth, Slender long bon...	OMIM:612731
Congenital Myopathy 13	Skeletal muscle atrophy, Micrognathia, Fatty replacement of skeletal muscle, Flexion contracture,...	OMIM:255995
Mandibulofacial Dysostosis With Ptosis, Autosomal Dominant	Micrognathia, Dental malocclusion, Camptodactyly, Malar flattening, Joint contracture of the hand	OMIM:608257
15Q Overgrowth Syndrome	Mandibular prognathia, Contracture of the proximal interphalangeal joint of the 2nd finger, Denta...	ORPHA:314585
Peroxisomal Acyl-Coa Oxidase Deficiency	Frontal bossing, Brachycephaly	OMIM:264470
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation	Osteopenia, Intestinal pseudo-obstruction, Bicuspid aortic valve, High, narrow palate, Downturned...	ORPHA:453504
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion	Osteopenia, Intestinal pseudo-obstruction, Bicuspid aortic valve, High, narrow palate, Downturned...	ORPHA:352665
Stickler Syndrome	Joint dislocation, Skeletal muscle atrophy, Micrognathia, Hypoplasia of the maxilla, Osteoarthrit...	ORPHA:828
Sponastrime Dysplasia	Mandibular prognathia, Obtuse angle of mandible, Delayed epiphyseal ossification, Osteopathia str...	ORPHA:93357
Joubert Syndrome 20	4-5 toe syndactyly, Postaxial polydactyly	OMIM:614970
Ehlers-Danlos Syndrome, Classic-Like, 2	Osteopenia, Micrognathia, Osteoarthritis, Generalized joint laxity, Knee dislocation, Shoulder di...	OMIM:618000
Familial Isolated Restrictive Cardiomyopathy	Tricuspid regurgitation, Atrial fibrillation, Left atrial enlargement, Supraventricular arrhythmi...	ORPHA:75249
Skraban-Deardorff Syndrome	Ventricular septal defect, Micrognathia, Absent cupid's bow, Cleft palate, Widely spaced teeth, P...	OMIM:617616
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome	Mandibular prognathia, Bicuspid aortic valve, Micrognathia, Generalized joint laxity, Hypermobili...	ORPHA:508498
Pelviscapular Dysplasia	Frontal bossing, Congenital hip dislocation, Short femur, Hypoplastic scapulae, Hypoplastic ilia,...	ORPHA:93333
Developmental Delay With Variable Intellectual Disability And Dysmorphic Facies	Joint laxity, Frontal bossing, Pes planus, Exaggerated cupid's bow, Single transverse palmar crea...	OMIM:620098
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate Syndrome	Delayed eruption of teeth, Finger syndactyly, Ventricular septal defect, Abnormal dental enamel m...	ORPHA:1071
Simpson-Golabi-Behmel Syndrome	Mandibular prognathia, Bundle branch block, Congenital hip dislocation, Congenital diaphragmatic ...	ORPHA:373
Mosaic Trisomy 20	Vertebral fusion, Ventricular septal defect, Down-sloping shoulders, Micrognathia, Cleft lip, Dys...	ORPHA:1724
Spondylometaphyseal Dysplasia, Algerian Type	Metaphyseal dysplasia, Bowed humerus, Short tubular bones of the hand, Tibial metaphyseal irregul...	OMIM:184253
Distal 22Q11.2 Microduplication Syndrome	Mandibular prognathia, Frontal bossing, Toe syndactyly, Tricuspid regurgitation, Camptodactyly of...	ORPHA:261337
Neurodevelopmental Disorder With Dysmorphic Facies And Ischiopubic Hypoplasia	Joint dislocation, Ventricular septal defect, Joint stiffness, Splenomegaly, Cleft palate, Reduce...	OMIM:620210
Congenital Enterovirus Infection	Polyhydramnios, Fetal ascites, Pericardial effusion, Myocarditis, Hydrops fetalis, Cardiomyopathy...	ORPHA:292
Genitopalatocardiac Syndrome	Ventricular septal defect, Cleft upper lip, Micrognathia, Cleft palate, Transposition of the grea...	OMIM:231060
Okamoto Syndrome	Tented upper lip vermilion, Primum atrial septal defect, Downturned corners of mouth, Exaggerated...	ORPHA:2729
Acrofacial Dysostosis, Rodríguez Type	Microretrognathia, Finger syndactyly, Hand oligodactyly, Fibular hypoplasia, Radioulnar synostosi...	ORPHA:1788
Congenital Disorder Of Glycosylation With Defective Fucosylation 1	Osteopenia, Atrial septal defect, Polyhydramnios, Hip dislocation, High palate, Limb undergrowth,...	OMIM:618005
Curry-Jones Syndrome	Finger syndactyly, Toe syndactyly, Intestinal malrotation, Abnormality of thumb phalanx, Craniosy...	ORPHA:1553
Loeys-Dietz Syndrome 2	Bicuspid aortic valve, Micrognathia, Bicuspid pulmonary valve, Atrial septal defect, Bifid uvula,...	OMIM:610168
Bardet-Biedl Syndrome 3	Tricuspid regurgitation, Postaxial polydactyly, Brachydactyly	OMIM:600151
Au-Kline Syndrome	Downturned corners of mouth, Oligodontia, High palate, Clinodactyly of the 5th finger, Bifid uvul...	OMIM:616580
Oculocerebrocutaneous Syndrome	Finger syndactyly, Congenital hip dislocation, Talipes, Congenital diaphragmatic hernia, Aplasia/...	ORPHA:1647
Diamond-Blackfan Anemia 11	Hypoplasia of the ulna, Bilateral cleft palate, Bicuspid aortic valve, Absent thumb, Unilateral r...	OMIM:614900
Cat Eye Syndrome	Anal stenosis, Ventricular septal defect, Intestinal malrotation, Rectal fistula, Absent radius, ...	OMIM:115470
Smith-Lemli-Opitz Syndrome	Proximal placement of thumb, Micrognathia, Congenital diaphragmatic hernia, Polyhydramnios, Talip...	ORPHA:818
Skeletal Defects, Genital Hypoplasia, And Impaired Intellectual Development	Hypoplasia of the ulna, Short femur, Absent thumb, Delayed skeletal maturation, Fibular hypoplasi...	OMIM:612447
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome	Osteopenia, Bicuspid aortic valve, Downturned corners of mouth, Oligodontia, High palate, Atrial ...	ORPHA:453499
Biemond Syndrome Type 2	Preaxial polydactyly	ORPHA:141333
Gracile Bone Dysplasia	Asplenia, Flared metaphysis, Decreased skull ossification, Slender long bone, Hypoplastic spleen,...	OMIM:602361
Symphalangism, Proximal, 1A	Tarsal synostosis, Aplasia/Hypoplasia of the middle phalanges of the hand, Metacarpophalangeal sy...	OMIM:185800
16P13.11 Microdeletion Syndrome	Thin upper lip vermilion, Atrial septal defect, Exaggerated cupid's bow, Camptodactyly of finger,...	ORPHA:261236
Marden-Walker Syndrome	Skeletal muscle atrophy, Micrognathia, Bifid uvula, Arachnodactyly, Abnormal anatomic location of...	ORPHA:2461
Thoraco-Abdominal Enteric Duplication	Intestinal malrotation, Dextrocardia, Camptodactyly of finger, Missing ribs, Duodenal stenosis, A...	ORPHA:1759
Branchioskeletogenital Syndrome	Mandibular prognathia, Upper limb peromelia, Hypoplasia of the maxilla, Brachycephaly, Downturned...	ORPHA:1299
Geleophysic Dysplasia 1	Short palm, Osteopenia, Mitral stenosis, Camptodactyly of finger, Tricuspid stenosis, Coxa valga,...	OMIM:231050
Congenital Myopathy 22B, Severe Fetal	Tented upper lip vermilion, Dental crowding, Polyhydramnios, Micrognathia, Flexion contracture, H...	OMIM:620369
Laurence-Moon Syndrome	Polydactyly, Abnormality of the hand	OMIM:245800
Developmental And Epileptic Encephalopathy 80	Tented upper lip vermilion, Tapered finger, Protruding tongue, Micrognathia, Wide mouth, High pal...	OMIM:618580
Q Fever	Pericarditis, Osteomyelitis, Abnormal heart valve morphology, Pericardial effusion, Myocarditis, ...	ORPHA:781
X-Linked Intellectual Disability, Sutherland-Haan Type	Mandibular prognathia, Hypoplasia of the maxilla, Brachycephaly, Anal atresia	ORPHA:93950
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome	Long toe, Hyperextensibility of the finger joints, Thin upper lip vermilion, Pes planus, Ventricu...	ORPHA:163979
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 1	Thin upper lip vermilion, Ulnar deviation of the 3rd finger, Proximal placement of thumb, Long fi...	OMIM:616263
Xylt1-Cdg	Joint dislocation, Joint laxity, Pes planus, Coxa valga, Accelerated skeletal maturation, Flared ...	ORPHA:370930
Osteoglosphonic Dysplasia	Inguinal hernia, Rhizomelia, Craniosynostosis, Micrognathia, Delayed skeletal maturation, Tooth a...	ORPHA:2645
Camptobrachydactyly	Finger syndactyly, Aplasia/Hypoplasia of the thumb, Toe syndactyly, Camptodactyly of finger, Ulna...	ORPHA:1319
Abnormal Hair, Joint Laxity, And Developmental Delay	Short fourth metatarsal, Short fifth metatarsal, Tricuspid regurgitation, Joint hypermobility, Lo...	OMIM:261990
Drug-Induced Lupus Erythematosus	Pericardial effusion, Pericarditis, Prolonged QTc interval	ORPHA:231111
Meckel Syndrome, Type 1	Micrognathia, Asplenia, Lobulated tongue, Accessory spleen, Syndactyly, Cleft upper lip, Postaxia...	OMIM:249000
Arterial Calcification, Generalized, Of Infancy, 2	Tricuspid regurgitation, Myocardial infarction, Cardiomegaly, Congestive heart failure, Hypertens...	OMIM:614473
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies	Mandibular prognathia, Hyperextensibility of the finger joints, Internally rotated shoulders, Sin...	OMIM:619503
Kabuki Syndrome 2	Joint laxity, Natal tooth, Atrial septal defect, Micrognathia, Lower lip pit, Hip dislocation, De...	OMIM:300867
Short-Rib Thoracic Dysplasia 9 With Or Without Polydactyly	Osteopenia, Edema, Micrognathia, Short metatarsal, Widely spaced teeth, High palate, Clinodactyly...	OMIM:266920
Spondyloepimetaphyseal Dysplasia, Genevieve Type	Joint laxity, Thick lower lip vermilion, Flared metaphysis, Advanced ossification of carpal bones...	OMIM:610442
Thanatophoric Dysplasia, Type I	Frontal bossing, Bowing of the long bones, Cloverleaf skull, Small abnormally formed scapulae, Po...	OMIM:187600
Vitamin D-Dependent Rickets, Type 3	Osteopenia, Bowing of the legs, Flared metaphysis, Metaphyseal cupping, Genu varum	OMIM:619073
Intellectual Developmental Disorder, X-Linked, Syndromic, Wu Type	Brachycephaly	OMIM:300699
Diamond-Blackfan Anemia 1	Micrognathia, Hypoplastic coccygeal vertebrae, High palate, Triphalangeal thumb, Atrial septal de...	OMIM:105650
Long Qt Syndrome 8	Syndactyly, Sudden cardiac death, Sinus bradycardia, Syncope, Aborted sudden cardiac death, Prolo...	OMIM:618447
Goldberg-Shprintzen Syndrome	Aortic regurgitation, Aganglionic megacolon, Ventricular septal defect, Tapered finger, Hypoplasi...	OMIM:609460
Metaphyseal Dysostosis-Intellectual Disability-Conductive Deafness Syndrome	Joint laxity, Metaphyseal dysplasia, Broad tibial metaphyses, Equinovarus deformity, Bowing of th...	ORPHA:2502
Joubert Syndrome 23	Polydactyly	OMIM:616490
Autosomal Recessive Spondylocostal Dysostosis	Finger syndactyly, Inguinal hernia, Camptodactyly of finger, Congenital diaphragmatic hernia, Ano...	ORPHA:2311
Penoscrotal Transposition	Micrognathia, Patellar aplasia, Prominent occiput, Cardiomyopathy, Clinodactyly of the 5th finger...	ORPHA:2842
Infantile Hypotonia-Oculomotor Anomalies-Hyperkinetic Movements-Developmental Delay Syndrome	Joint laxity, Thin upper lip vermilion, Progressive flexion contractures, Equinus calcaneus, 2-3 ...	ORPHA:522077
Hadziselimovic Syndrome	Ventricular hypertrophy, Ventricular septal defect, Delayed skeletal maturation, Thick lower lip ...	OMIM:612946
Viss Syndrome	Chronic gastritis, Epidural hemorrhage, Polyhydramnios, Micrognathia, High, narrow palate, Genera...	OMIM:619472
Gabriele-De Vries Syndrome	Hallux valgus, Sandal gap, Facial hypotonia, Abnormality of the dentition, Micrognathia, Long fin...	OMIM:617557
Amyotrophic Lateral Sclerosis 27, Juvenile	Scapular winging, Tongue atrophy, Quadriceps muscle atrophy, Angulated muscle fibers, Intrinsic h...	OMIM:620285
Oculoauriculofrontonasal Syndrome	Pericallosal lipoma, Ventricular septal defect, Micrognathia, Cleft lip, Cleft palate, Narrow mou...	ORPHA:398156
Anophthalmia-Megalocornea-Cardiopathy-Skeletal Anomalies Syndrome	Mandibular prognathia, Inguinal hernia, Tricuspid regurgitation, Camptodactyly of finger, Hypopla...	ORPHA:1101
Noonan Syndrome 2	Atrial septal defect, Ventricular septal defect, Polyhydramnios, Micrognathia, Increased nuchal t...	OMIM:605275
Oliver Syndrome	Mandibular prognathia, Camptodactyly of finger, Short toe, Postaxial hand polydactyly, Elbow flex...	ORPHA:2920
Spondyloepimetaphyseal Dysplasia, Aggrecan Type	Mandibular prognathia, Joint laxity, Midface retrusion, Rhizomelia, Mesomelia, Broad thumb, Brach...	ORPHA:171866
Congenital Disorder Of Glycosylation, Type Ig	Short humerus, Thin upper lip vermilion, Short femur, Rhizomelia, Sandal gap, Edema, Polyhydramni...	OMIM:607143
Hypoglossia-Hypodactylia	Micrognathia, Adactyly, Split hand, Aglossia, Narrow mouth, Microglossia, Retrognathia	OMIM:103300
Geleophysic Dysplasia 3	Epiphyseal dysplasia, Limited elbow movement, Limited wrist movement, Polyhydramnios, Delayed ske...	OMIM:617809
Intellectual Disability-Hypotonia-Brachycephaly-Pyloric Stenosis-Cryptorchidism Syndrome	Thin upper lip vermilion, Frontal bossing, Craniosynostosis, Pyloric stenosis, Brachycephaly, Hig...	ORPHA:314575
Microgastria-Limb Reduction Defect Syndrome	Congenital muscular torticollis, Abnormality of the spleen, Abnormal finger morphology, Phocomeli...	ORPHA:2538
Lenz-Majewski Hyperostotic Dwarfism	Mandibular prognathia, High, narrow palate, Abnormal finger morphology, Symphalangism affecting t...	ORPHA:2658
Craniofacioskeletal Syndrome	Thin upper lip vermilion, Atrial septal defect, Pes planus, Ventricular septal defect, Micrognath...	OMIM:300712
Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Anomalies	Tented upper lip vermilion, Rocker bottom foot, Single transverse palmar crease, Postaxial polyda...	OMIM:617527
Brain Malformation-Congenital Heart Disease-Postaxial Polydactyly Syndrome	Ventricular septal defect, Postaxial hand polydactyly, Everted lower lip vermilion, Long philtrum...	ORPHA:75389
Osteogenesis Imperfecta, Type Xiii	Angulated humerus, Skeletal muscle atrophy, Increased bone mineral density, Arachnodactyly, Recur...	OMIM:614856
Koolen-De Vries Syndrome	Bicuspid aortic valve, Positional foot deformity, High palate, Widely spaced teeth, Atrial septal...	OMIM:610443
King-Denborough Syndrome	Ventricular septal defect, Centrally nucleated skeletal muscle fibers, Deep philtrum, Scaphocepha...	OMIM:619542
Mend Syndrome	Overlapping toe, Broad hallux, Asymmetry of the mouth, Micrognathia, Long fingers, 2-3 toe syndac...	ORPHA:401973
Aural Atresia, Multiple Congenital Anomalies, And Mental Retardation	Ventricular septal defect, Talipes equinovarus	OMIM:209770
Spondyloepimetaphyseal Dysplasia, Shohat Type	Joint laxity, Bowing of the legs, Delayed epiphyseal ossification, Metaphyseal widening, Flared m...	ORPHA:93352
Pseudotrisomy 13 Syndrome	11 pairs of ribs, Omphalocele, Ventricular septal defect, Dextrocardia, Cleft upper lip, Complete...	OMIM:264480
Ring Chromosome 12 Syndrome	Syndactyly, Secundum atrial septal defect, High, narrow palate, Abnormal 5th finger morphology, S...	ORPHA:1439
Intellectual Developmental Disorder, X-Linked, Syndromic 34	Dental crowding, Cardiomegaly, High, narrow palate, Short philtrum, Widely spaced teeth, Atrial s...	OMIM:300967
Chromosome 1P36 Deletion Syndrome, Distal	Bicuspid aortic valve, Brachycephaly, Orofacial cleft, High palate, Atrial septal defect, Clinoda...	OMIM:607872
Global Developmental Delay With Or Without Impaired Intellectual Development	Thin upper lip vermilion, Frontal bossing, Ventricular septal defect, Plagiocephaly, Oligodontia,...	OMIM:618330
Trisomy 12P	Turricephaly, Micrognathia, Delayed skeletal maturation, Cleft palate, Downturned corners of mout...	ORPHA:1699
Intellectual Disability-Brachydactyly-Pierre Robin Syndrome	Prominent metopic ridge, Tented upper lip vermilion, Exaggerated cupid's bow, Abnormality of cani...	ORPHA:364577
Genitopatellar Syndrome	Delayed eruption of teeth, Hip contracture, Micrognathia, Hypoplastic ilia, Patellar aplasia, Kne...	ORPHA:85201
22Q11.2 Duplication Syndrome	Ventricular septal defect, Micrognathia, Cleft palate, Hypoplastic left heart, Transposition of t...	ORPHA:1727
Visceral Neuropathy-Brain Anomalies-Facial Dysmorphism-Developmental Delay Syndrome	Finger syndactyly, Toe syndactyly, Intestinal pseudo-obstruction, Arachnodactyly, Short palm, Ret...	ORPHA:73246
Lymphatic Malformation 7	Nonimmune hydrops fetalis, Edema, Lymphedema, Pericardial effusion, Facial edema, Increased nucha...	OMIM:617300
Coffin-Siris Syndrome 4	Thin upper lip vermilion, Everted upper lip vermilion, Ventricular septal defect, Mitral atresia,...	OMIM:614609
Microphthalmia, Syndromic 6	Finger syndactyly, Thumb contracture, Toe syndactyly, Midface retrusion, Single transverse palmar...	OMIM:607932
Multifocal Atrial Tachycardia	Atrial septal defect, Atrial flutter, Tachycardia, Atrial fibrillation, Ventricular septal defect...	ORPHA:3282
1P36 Deletion Syndrome	Abnormality of the spleen, Brachycephaly, Clinodactyly of the 5th finger, Abnormality of the anus...	ORPHA:1606
Feingold Syndrome	Hallux valgus, Toe syndactyly, Micrognathia, Esophageal atresia, Abnormality of the spleen, Devia...	ORPHA:1305
Vacterl Association, X-Linked, With Or Without Hydrocephalus	Short humerus, Dextrocardia, Proximal placement of thumb, Polyhydramnios, Absent radius, Esophage...	OMIM:314390
Cleft Palate, Psychomotor Retardation, And Distinctive Facial Features	Thin upper lip vermilion, Frontal bossing, Tapered finger, Short thumb, Brachycephaly, Downturned...	OMIM:616728
Combined Oxidative Phosphorylation Defect Type 39	Congenital foot contractures, Ankle clonus, Bradycardia, Prominent calcaneus, Open mouth, Limb hy...	ORPHA:565624
Joubert Syndrome 16	Polydactyly	OMIM:614465
Pyruvate Dehydrogenase E1-Alpha Deficiency	Ventricular septal defect, Single transverse palmar crease, Talipes, Flexion contracture, Limb un...	ORPHA:79243
Camurati-Engelmann Disease	Skeletal muscle atrophy, Abnormal tibia morphology, Craniofacial osteosclerosis, Bone pain, Abnor...	ORPHA:1328
Mesomelic Dysplasia, Savarirayan Type	Delayed closure of the anterior fontanelle, Abnormal foot morphology, Talipes equinovalgus, Hip d...	OMIM:605274
Posterior Column Ataxia With Retinitis Pigmentosa	Skeletal muscle atrophy, Flexion contracture of finger, Joint contracture of the hand, Camptodactyly	OMIM:609033
8P Inverted Duplication/Deletion Syndrome	Small hypothenar eminence, Dextrocardia, Micrognathia, Long fingers, High, narrow palate, Hip dis...	ORPHA:96092
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes	Malabsorption, Xerostomia, Clubbing, Hamartomatous polyposis, Hematochezia, Clubbing of fingers, ...	OMIM:175500
Monosomy 22	Finger syndactyly, Aplasia of the thymus, Single transverse palmar crease, Clubbing, Hepatospleno...	ORPHA:96123
Johnson Neuroectodermal Syndrome	Facial palsy, Carious teeth, Preaxial hand polydactyly, Cleft palate, Hand polydactyly, Everted l...	ORPHA:2316
Delpire-Mcneill Syndrome	Ventricular septal defect, Hip dislocation, Tracheoesophageal fistula	OMIM:619083
Orofaciodigital Syndrome Type 3	Irregular dentition, Hamartoma of tongue, Abnormality of the dentition, Postaxial hand polydactyl...	ORPHA:2752
Camptodactyly, Tall Stature, And Hearing Loss Syndrome	Arachnodactyly, High palate, Camptodactyly, Camptodactyly of toe, Broad femoral metaphyses	OMIM:610474
Trochlea Of The Humerus, Aplasia Of	Short humerus, Cleft palate	OMIM:191000
Ivic Syndrome	Aplastic clavicle, Joint stiffness, Preaxial hand polydactyly, Short thumb, Hypoplasia of the rad...	ORPHA:2307
Atrioventricular Defect-Blepharophimosis-Radial And Anal Defect Syndrome	Aplasia/Hypoplasia of the thumb, Hypoplasia of the ulna, Micrognathia, Absent radius, Aplasia of ...	ORPHA:1352
Orofaciodigital Syndrome Xiv	Microretrognathia, Natal tooth, Broad hallux, Ventricular septal defect, Hamartoma of tongue, Mic...	OMIM:615948
Hereditary Acrokeratotic Poikiloderma	Finger syndactyly, Turricephaly, Telangiectasia of the skin, Camptodactyly of finger, Premature l...	ORPHA:2907
Intellectual Developmental Disorder, Autosomal Dominant 71, With Behavioral Abnormalities	Mandibular prognathia, Thin upper lip vermilion, Joint laxity, Frontal bossing, Sandal gap, Ventr...	OMIM:620330
Cole-Carpenter Syndrome	Delayed eruption of teeth, Frontal bossing, Crumpled long bones, Bowing of the long bones, Turric...	ORPHA:2050
Frontorhiny	Pericallosal lipoma, Camptodactyly of finger, Hypoplasia of the maxilla, Hypoplastic frontal sinu...	ORPHA:391474
Cardiomyopathy, Familial Hypertrophic, 26	Atrial fibrillation, Left atrial enlargement, Sudden cardiac death, Congestive heart failure, Per...	OMIM:617047
Antley-Bixler Syndrome With Genital Anomalies And Disordered Steroidogenesis	Brachycephaly, Femoral bowing, Anteriorly placed anus, Cloverleaf skull, Arachnodactyly, Ulnar bo...	OMIM:201750
Phelan-Mcdermid Syndrome	Ventricular septal defect, Palpebral edema, Micrognathia, Lymphedema, Dolichocephaly, Dental malo...	OMIM:606232
Mitochondrial Complex Iii Deficiency, Nuclear Type 10	Persistent fetal circulation, Ventricular septal defect, Pericardial effusion, Bradycardia, Hyper...	OMIM:618775
Neurodevelopmental Disorder With Variable Motor And Language Impairment	Mandibular prognathia, Pes planus, Single transverse palmar crease, Joint hypermobility, Tapered ...	OMIM:617804
Neu-Laxova Syndrome 2	Finger syndactyly, Toe syndactyly, Rocker bottom foot, Edema, Micrognathia, Polyhydramnios, Cleft...	OMIM:616038
Ventricular Septal Defect 1	Ventricular septal defect, Pulmonic stenosis, Atrial septal defect, Atrioventricular canal defect...	OMIM:614429
Crimean-Congo Hemorrhagic Fever	Bundle branch block, Stiff neck, Abnormal left ventricular function, Internal hemorrhage, Pericar...	ORPHA:99827
Opsismodysplasia	Frontal bossing, Short metacarpal, Rhizomelia, Edema, Polyhydramnios, Hypoplasia of the odontoid ...	OMIM:258480
Wiedemann-Rautenstrauch Syndrome	Micrognathia, Secundum atrial septal defect, Flexion contracture, Brachycephaly, Downturned corne...	OMIM:264090
Generalized Arterial Calcification Of Infancy	Edema, Cardiomegaly, Polyhydramnios, Hydrops fetalis, Abnormal calcification of the carpal bones,...	ORPHA:51608
Atrial Septal Defect, Ostium Secundum Type	Bundle branch block, First degree atrioventricular block, Pedal edema, Abnormal left ventricular ...	ORPHA:99103
Noonan Syndrome With Multiple Lentigines	Abnormal endocardium morphology, Bundle branch block, Scapular winging, Abnormal pulmonary valve ...	ORPHA:500
Pili Torti-Onychodysplasia Syndrome	Cleft lip, Cleft palate, Cutaneous syndactyly, Palmoplantar keratoderma, Keloids	ORPHA:2890
Diarrhea 10, Protein-Losing Enteropathy Type	Polyhydramnios, Micrognathia, Pericardial effusion, Hematochezia, Anasarca, Protein-losing entero...	OMIM:618183
Fixed Subaortic Stenosis	Aortic regurgitation, Paroxysmal atrial fibrillation, Angina pectoris, Bicuspid aortic valve, Ven...	ORPHA:3092
Vacterl/Vater Association	Omphalocele, Finger syndactyly, Congenital diaphragmatic hernia, Polyhydramnios, Preaxial hand po...	ORPHA:887
Gaucher Disease Type 3	Mitral valve calcification, Increased bone mineral density, Abnormal heart valve morphology, Peri...	ORPHA:77261
Desanto-Shinawi Syndrome	Downturned corners of mouth, Thin upper lip vermilion, Brachycephaly, Midface retrusion	OMIM:616708
Joubert Syndrome 40	Postaxial polydactyly	OMIM:619582
Feingold Syndrome Type 1	Toe syndactyly, Jejunal atresia, Tricuspid stenosis, Micrognathia, Short middle phalanx of the 2n...	ORPHA:391641
Okur-Chung Neurodevelopmental Syndrome	Thin upper lip vermilion, Inguinal hernia, Broad hallux, Single transverse palmar crease, Polyhyd...	OMIM:617062
Pontocerebellar Hypoplasia, Type 8	Tented upper lip vermilion, Ventricular septal defect, Joint stiffness, Arthrogryposis multiplex ...	OMIM:614961
Rothmund-Thomson Syndrome Type 2	Joint dislocation, Osteopenia, Facial edema, Patellar hypoplasia, High palate, Microdontia, Short...	ORPHA:221016
Meckel Syndrome, Type 9	Limb undergrowth, Talipes equinovarus	OMIM:614209
Prune Belly Syndrome	Congenital hip dislocation, Ventricular septal defect, Intestinal malrotation, Aplasia of the abd...	ORPHA:2970
Orofaciodigital Syndrome Type 14	Microretrognathia, Broad hallux, Deviation of the hallux, Accessory oral frenulum, Hamartoma of t...	ORPHA:434179
Williams-Beuren Region Duplication Syndrome	Micrognathia, Diastema, Brachycephaly, High palate, Short philtrum	OMIM:609757
Hypomandibular Faciocranial Dysostosis	Pursed lips, Micrognathia, Hypoplasia of the maxilla, Aglossia, Atrial septal defect, Malar flatt...	OMIM:241310
Tibia, Hypoplasia Or Aplasia Of, With Polydactyly	Short tibia, Preaxial polydactyly, Triphalangeal thumb, Absent tibia, Fibular duplication	OMIM:188740
Degcags Syndrome	Osteopenia, Polyhydramnios, Micrognathia, High palate, Atrial septal defect, Diaphragmatic eventr...	OMIM:619488
Musculocontractural Ehlers-Danlos Syndrome	Decreased muscle mass, Decreased palmar creases, Generalized joint laxity, High palate, Microretr...	ORPHA:2953
Myopathy, Epilepsy, And Progressive Cerebral Atrophy	Thymus hyperplasia, Turricephaly, Arachnodactyly, Polyhydramnios, Micrognathia, Type 1 muscle fib...	OMIM:619036
Auriculocondylar Syndrome 1	Dental crowding, Micrognathia, Ankylosis, Dental malocclusion, Cleft palate, Mandibular condyle h...	OMIM:602483
Deafness-Genital Anomalies-Metacarpal And Metatarsal Synostosis Syndrome	Finger syndactyly, Toe syndactyly, Short hallux, Abnormality of the dentition, Abnormal metacarpa...	ORPHA:3224
Enlarged Parietal Foramina	Craniosynostosis, Parietal foramina, Cleft lip, Cleft palate, Short clavicles, Broad thumb	ORPHA:60015
Khan-Khan-Katsanis Syndrome	Frontal bossing, Tricuspid regurgitation, Tented upper lip vermilion, Postaxial polydactyly, Dela...	OMIM:618460
Neonatal Marfan Syndrome	Long toe, Tricuspid regurgitation, Arachnodactyly, Lipoatrophy, Micrognathia, Long fingers, High,...	ORPHA:284979
Congenital Myopathy 17	Mandibular prognathia, Diaphragmatic eventration, Tented upper lip vermilion, Overlapping toe, Po...	OMIM:618975
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome	Osteopenia, Multiple joint contractures, Micrognathia, Metaphyseal widening, Multiple joint dislo...	ORPHA:536467
Aica-Ribosuria Due To Atic Deficiency	Thin upper lip vermilion, Prominent metopic ridge, Frontal bossing, Secundum atrial septal defect...	OMIM:608688
Hand-Foot-Genital Syndrome	Shortening of all middle phalanges of the fingers, Short hallux, Proximal placement of thumb, Hal...	OMIM:140000
Hypertelorism-Hypospadias-Polysyndactyly Syndrome	Finger syndactyly, Broad hallux phalanx, Flat occiput, Preaxial hand polydactyly, Brachycephaly, ...	ORPHA:2211
Loeys-Dietz Syndrome 3	Bicuspid aortic valve, Osteoarthritis, Knee osteoarthritis, High palate, Atrial septal defect, Bi...	OMIM:613795
Rapp-Hodgkin Syndrome	Syndactyly, Conical tooth, Cleft upper lip, Carious teeth, 2-3 toe cutaneous syndactyly, Velophar...	OMIM:129400
Neurocardiofaciodigital Syndrome	Syndactyly, Retrognathia, Double inlet left ventricle, Thin vermilion border, High palate, Polyda...	OMIM:619869
Short-Rib Thoracic Dysplasia 15 With Polydactyly	Median cleft lip, Postaxial polydactyly, Accessory oral frenulum, Polyhydramnios, Splenomegaly, P...	OMIM:617088
Craniofrontonasal Dysplasia-Poland Anomaly Syndrome	Syndactyly, Short lingual frenulum, Unilateral hypoplasia of pectoralis major muscle, Craniosynos...	ORPHA:1521
Mandibulofacial Dysostosis With Alopecia	Dental crowding, Bicuspid aortic valve, Delayed eruption of primary teeth, Micrognathia, Hypoplas...	OMIM:616367
Hypogonadotropic Hypogonadism 9 With Or Without Anosmia	Cleft lip, Clinodactyly, Osteoporosis, Cleft palate	OMIM:614838
Lig4 Syndrome	Plantar warts, Brachycephaly, Telangiectasia, Clinodactyly of the 5th finger, Chronic sinusitis	OMIM:606593
Atelosteogenesis Type Iii	Polyhydramnios, Short tubular bones of the hand, Micrognathia, Knee dislocation, High palate, Sho...	ORPHA:56305
Spinocerebellar Ataxia 42, Early-Onset, Severe, With Neurodevelopmental Deficits	Mandibular prognathia, Syndactyly, Clinodactyly, Limb hypertonia	OMIM:618087
Immunoskeletal Dysplasia With Neurodevelopmental Abnormalities	Epiphyseal dysplasia, Metaphyseal dysplasia, Single transverse palmar crease, Coxa valga, Narrow ...	OMIM:617425
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome	Micrognathia, Downturned corners of mouth, Glossoptosis, High palate, Patent foramen ovale, Trach...	ORPHA:444077
Osteogenesis Imperfecta, Type Xvii	Joint laxity, Decreased muscle mass, Bowed humerus, Thin long bone diaphyses, Recurrent fractures...	OMIM:616507
Spondyloenchondrodysplasia	Delayed eruption of teeth, Metaphyseal dysplasia, Bowing of the legs, Hypoplastic ilia, Raynaud p...	ORPHA:1855
X-Linked Hypophosphatemia	Bowing of the legs, Generalized osteosclerosis, Bone pain, Trapezoidal distal femoral condyles, R...	ORPHA:89936
Schilbach-Rott Syndrome	Micrognathia, 2-3 toe cutaneous syndactyly, Submucous cleft hard palate, 3-4 finger cutaneous syn...	OMIM:164220
Gm1-Gangliosidosis, Type Ii	Protruding tongue, Coxa valga, Splenomegaly, Joint stiffness, Gingival overgrowth, Hypoplastic ve...	OMIM:230600
Endove Syndrome, Limb-Only Type	Short middle phalanx of the 2nd finger, Fibular hypoplasia, Disproportionate shortening of the ti...	OMIM:619217
Blepharophimosis-Intellectual Disability Syndrome, Sbbys Type	Atrial septal defect, Ventricular septal defect, Camptodactyly of finger, Polyhydramnios, Microgn...	ORPHA:3047
Cutis Laxa, Autosomal Recessive, Type Iid	Reduced subcutaneous adipose tissue, Inguinal hernia, Hypoplastic right heart, Congestive heart f...	OMIM:617403
Retinitis Pigmentosa 51	Polydactyly	OMIM:613464
Chromosome 13Q14 Deletion Syndrome	Thin upper lip vermilion, Inguinal hernia, Frontal bossing, Overlapping toe, Single transverse pa...	OMIM:613884
Fryns Syndrome	Omphalocele, Tented upper lip vermilion, Median cleft lip, Aganglionic megacolon, Intestinal malr...	ORPHA:2059
Acro-Renal-Ocular Syndrome	Hypoplasia of the ulna, Finger syndactyly, Broad hallux phalanx, Toe syndactyly, Abnormal morphol...	ORPHA:959
8Q21.11 Microdeletion Syndrome	Finger syndactyly, Exaggerated cupid's bow, Camptodactyly of finger, Abnormality of the dentition...	ORPHA:284160
Clubfoot, Congenital, With Or Without Deficiency Of Long Bones And/Or Mirror-Image Polydactyly	Mirror image foot polydactyly, Preaxial foot polydactyly, Patellar hypoplasia, Popliteal pterygiu...	OMIM:119800
Lowry-Maclean Syndrome	Osteopenia, Inguinal hernia, Single transverse palmar crease, Delayed eruption of primary teeth, ...	ORPHA:2409
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 3	Mandibular prognathia, High, narrow palate, Deep philtrum, Brachycephaly, Downturned corners of m...	OMIM:619950
Warburg Micro Syndrome 2	Overlapping toe, Flexion contracture, Brachycephaly, Clinodactyly of the 4th toe, Clinodactyly of...	OMIM:614225
Seckel Syndrome 9	Ventricular septal defect, Congenital diaphragmatic hernia, Micrognathia, Polyhydramnios, Scaphoc...	OMIM:616777
Tetraamelia Syndrome 2	Microretrognathia, Ventricular septal defect, Bilateral cleft lip, Micrognathia, Cleft palate, Gl...	OMIM:618021
Trisomy 8P	Short fourth metatarsal, Multiple joint contractures, Single transverse palmar crease, Abnormal a...	ORPHA:264450
Autosomal Dominant Popliteal Pterygium Syndrome	Finger syndactyly, Thin upper lip vermilion, Toe syndactyly, Lip pit, Micrognathia, Joint stiffne...	ORPHA:1300
Adams-Oliver Syndrome 1	Toe syndactyly, Bicuspid aortic valve, Ventricular septal defect, Cleft upper lip, Cleft palate, ...	OMIM:100300
Ulnar-Mammary Syndrome	Deformed radius, Aplasia of the 3rd metacarpal, Aplasia of the 4th metacarpal, Aplasia of the 4th...	OMIM:181450
Macrocephaly-Intellectual Disability-Left Ventricular Non Compaction Syndrome	Dental crowding, High, narrow palate, Short philtrum, Widely spaced teeth, Atrial septal defect, ...	ORPHA:466791
Hypotonia, Infantile, With Psychomotor Retardation	Myopathy, Open mouth, Ventricular septal defect, Increased variability in muscle fiber diameter	OMIM:616816
Agnathia-Otocephaly Complex	Polyhydramnios, Micrognathia, Secundum atrial septal defect, Situs inversus totalis, Tracheomalac...	OMIM:202650
Treacher-Collins Syndrome	Micrognathia, Hypoplasia of the maxilla, Brachycephaly, Glossoptosis, High palate, Hypoplasia of ...	ORPHA:861
Camptobrachydactyly	Syndactyly, Short toe, Hand polydactyly, Congenital finger flexion contractures, Brachydactyly	OMIM:114150
Bohring-Opitz Syndrome	Joint dislocation, Prominent metopic ridge, Ulnar deviation of the wrist, Facial hypotonia, Trigo...	ORPHA:97297
White-Sutton Syndrome	Joint laxity, Thin upper lip vermilion, Ventral hernia, Inguinal hernia, Facial hypotonia, Congen...	ORPHA:468678
Acrorenal-Mandibular Syndrome	Hypoplasia of the ulna, Toe syndactyly, Hypoplastic scapulae, Congenital diaphragmatic hernia, Mi...	OMIM:200980
Fetal Akinesia Deformation Sequence	Intestinal hypoplasia, Multiple joint contractures, Camptodactyly of finger, Polyhydramnios, Micr...	ORPHA:994
Spondylometaphyseal Dysplasia, Pagnamenta Type	Pes planus, Rhizomelia, Delayed skeletal maturation, Femoral bowing, Wormian bones, Short 4th met...	OMIM:619638
Chondrodysplasia Punctata 2, X-Linked Dominant	Frontal bossing, Rhizomelia, Postaxial polydactyly, Edema, Polyhydramnios, Epiphyseal stippling, ...	OMIM:302960
Noonan Syndrome	Abnormal pulmonary valve morphology, Micrognathia, Lymphedema, Abnormality of the spleen, Delayed...	ORPHA:648
Congenital Heart Defects, Multiple Types, 4	Ventricular septal defect, Left ventricular outflow tract obstruction, Aortic valve stenosis, Hyp...	OMIM:615779
Short-Rib Thoracic Dysplasia 4 With Or Without Polydactyly	Short long bone, Polydactyly, Brachydactyly	OMIM:613819
Klippel-Trenaunay-Weber Syndrome	Syndactyly, Macrodactyly, Lymphedema, Hand oligodactyly, Hand polydactyly, Lymphangioma	OMIM:149000
Joubert Syndrome 7	Postaxial hand polydactyly, Postaxial polydactyly, Genu valgum	OMIM:611560
Singleton-Merten Syndrome 1	Osteopenia, Hypoplastic distal radial epiphyses, Cardiomegaly, Hypoplasia of the maxilla, Eruptio...	OMIM:182250
Osteogenesis Imperfecta, Type Xx	Mandibular prognathia, Tented upper lip vermilion, Multiple prenatal fractures, Brachycephaly, Na...	OMIM:618644
Neurodevelopmental Disorder With Craniofacial Dysmorphism And Skeletal Defects	Mandibular prognathia, Osteopenia, Dental crowding, Metaphyseal widening, Knee dislocation, High ...	OMIM:620083
Septooptic Dysplasia	Polydactyly, Short finger	OMIM:182230
Kniest Dysplasia	Arthropathy, Enlarged epiphyses, Enlarged joints, Abnormality of the epiphysis of the femoral hea...	ORPHA:485
Prader-Willi Syndrome Due To Translocation	Flat occiput, Micrognathia, Downturned corners of mouth, High palate, Clinodactyly of the 5th fin...	ORPHA:177907
Short Stature With Microcephaly And Distinctive Facies	Microretrognathia, Syndactyly, Short digit, Osteopenia, Frontal bossing, Proximal placement of th...	OMIM:615789
Chromosome 14Q11-Q22 Deletion Syndrome	Prominent metopic ridge, Inguinal hernia, Ventricular septal defect, Micrognathia, Delayed skelet...	OMIM:613457
Myasthenic Syndrome, Congenital, 10	Weakness of facial musculature, Tongue atrophy, Distal amyotrophy, Proximal amyotrophy	OMIM:254300
Solar Urticaria	Edema, Periorbital edema, Abnormal tongue morphology, Angioedema, Abnormal lip morphology, Syncope	ORPHA:97230
Cerebrocostomandibular Syndrome	Ventricular septal defect, Tracheomalacia, Micrognathia, Cleft palate, Glossoptosis, Clinodactyly...	ORPHA:1393
Myoclonic-Astatic Epilepsy	Syndactyly, Thin upper lip vermilion, Thick lower lip vermilion, Wide mouth, Long philtrum, Broad...	ORPHA:1942
Borjeson-Forssman-Lehmann Syndrome	Skeletal muscle atrophy, Tapered finger, Short toe, Orofacial cleft, Joint hyperflexibility, Abno...	ORPHA:127
Intellectual Developmental Disorder, X-Linked 1	Brachycephaly	OMIM:309530
Arterial Tortuosity Syndrome	Aortic regurgitation, Ventricular hypertrophy, Joint laxity, Inguinal hernia, Arachnodactyly, Con...	OMIM:208050
Hao-Fountain Syndrome Due To 16P13.2 Microdeletion	Flexion contracture, Small hand, Brachycephaly, Short foot, Plagiocephaly, Hip dysplasia	ORPHA:500055
Aicardi-Goutieres Syndrome 7	Atrophic gastritis, Generalized lymphadenopathy, Edema, Hematemesis, Pericardial effusion, Spleno...	OMIM:615846
Constricting Bands, Congenital	Omphalocele, Syndactyly, Cleft upper lip, Cleft palate, Hand polydactyly, Talipes equinovarus, Ec...	OMIM:217100
Cardiomyopathy, Familial Restrictive, 3	Myocardial sarcomeric disarray, Abnormal ST segment, Reduced left ventricular ejection fraction, ...	OMIM:612422
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome	Ivory epiphyses, Short metacarpal, Bowing of the long bones, Rhizomelia, Metaphyseal spurs, Bowin...	ORPHA:85167
Hemifacial Atrophy, Progressive	Delayed eruption of teeth, Short mandibular rami, Tongue atrophy, Dental malocclusion	OMIM:141300
Arthrogryposis, Renal Dysfunction, And Cholestasis 1	Ventricular septal defect, Micrognathia, Oligohydramnios, Dehydration, Talipes calcaneovalgus, Hi...	OMIM:208085
Tatton-Brown-Rahman Syndrome	Everted upper lip vermilion, Tricuspid regurgitation, Exaggerated cupid's bow, Ventricular septal...	OMIM:615879
Crouzon Syndrome	Mandibular prognathia, Frontal bossing, Dental crowding, Sagittal craniosynostosis, Hypoplasia of...	OMIM:123500
Microphthalmia, Syndromic 2	2-3 toe cutaneous syndactyly, Flexion contracture, Oligodontia, Fused teeth, Atrial septal defect...	OMIM:300166
Senior-Loken Syndrome 9	Osteopenia, Polydactyly, Hypoplasia of the femoral head	OMIM:616629
Facial Dysmorphism-Anorexia-Cachexia-Eye And Skin Anomalies Syndrome	Finger syndactyly, Skeletal muscle atrophy, Abnormal mitral valve morphology, Short hard palate, ...	ORPHA:1969
Frontonasal Dysplasia-Alopecia-Genital Anomalies Syndrome	Frontal bossing, Abnormality of the dentition, Conical tooth, Brachycephaly, Coronal craniosynost...	ORPHA:228390
Anemia, Congenital Dyserythropoietic, Type Ib	Splenomegaly, Syndactyly	OMIM:615631
Amastia, Bilateral, With Ureteral Triplication And Dysmorphism	Syndactyly, Congenital hip dislocation, Mitral valve prolapse, Umbilical hernia, High palate, Cub...	OMIM:104350
Stromme Syndrome	Accessory spleen, Jejunal atresia, Intestinal malrotation, Micrognathia, Preaxial polydactyly, Cl...	OMIM:243605
Fryns-Smeets-Thiry Syndrome	Arachnodactyly, Micrognathia, Thick lower lip vermilion, Patellar aplasia, Hip dislocation, Wide ...	ORPHA:2058
Angelman Syndrome	Mandibular prognathia, Flat occiput, Protruding tongue, Hypoplasia of the maxilla, Brachycephaly,...	OMIM:105830
Meier-Gorlin Syndrome 5	Prominent metopic ridge, Micrognathia, Elbow dislocation, Hypoplasia of the maxilla, Irregular fe...	OMIM:613805
Neuropathy, Hereditary Sensory And Autonomic, Type Vi	Tachycardia, Ventricular septal defect, Limited hip extension, Flexion contracture, Retinal hemor...	OMIM:614653
Short Stature, Brachydactyly, Impaired Intellectual Development, And Seizures	Frontal bossing, Short metacarpal, Dental crowding, Polyhydramnios, Rectal prolapse, Short metata...	OMIM:617157
Klippel-Feil Syndrome 2, Autosomal Recessive	Ventricular septal defect, Cleft upper lip, Cleft palate, Fused cervical vertebrae, Cervical C2/C...	OMIM:214300
Nance-Horan Syndrome	Diastema, Mulberry molar, Broad finger, Supernumerary maxillary incisor, Screwdriver-shaped incis...	OMIM:302350
Congenitally Uncorrected Transposition Of The Great Arteries	Levotransposition of the great arteries, Tachycardia, Ventricular septal defect, Cardiac shunt, A...	ORPHA:860
Rothmund-Thomson Syndrome Type 1	Osteopenia, Facial edema, Patellar hypoplasia, Microdontia, Short phalanx of finger, Genu varum, ...	ORPHA:221008
Yunis-Varon Syndrome	Congenital hip dislocation, Flat occiput, Single transverse palmar crease, Polyhydramnios, Microg...	OMIM:216340
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria	Short humerus, Skeletal muscle atrophy, Short femur, Flexion contracture, Ragged-red muscle fiber...	ORPHA:17
Indomethacin Embryofetopathy	Ventricular septal defect, Hydrops fetalis, Cardiomyopathy, Atrial septal defect, Oligohydramnios	ORPHA:1909
Noonan Syndrome 4	Ventricular septal defect, Polyhydramnios, Delayed skeletal maturation, Dental malocclusion, Wide...	OMIM:610733
Distal Deletion 6P	Atrial septal defect, Abnormality of the dentition, Micrognathia, Orofacial cleft, Short foot, Do...	ORPHA:96125
Developmental Delay With Or Without Dysmorphic Facies And Autism	Omphalocele, Thin upper lip vermilion, Inguinal hernia, Ventricular septal defect, Congenital dia...	OMIM:618454
Midface Hypoplasia, Hearing Impairment, Elliptocytosis, And Nephrocalcinosis	Delayed eruption of teeth, Thin upper lip vermilion, Midface retrusion, Short femur, Dental crowd...	OMIM:300990
Osteogenesis Imperfecta, Type Xviii	Joint laxity, Bowing of the long bones, Recurrent fractures, Joint hypermobility, Abnormality of ...	OMIM:617952
Fanconi Anemia	Micrognathia, Abnormal femur morphology, Reduced bone mineral density, High palate, Triphalangeal...	ORPHA:84
Chédiak-Higashi Syndrome	Epistaxis, Edema, Pericardial effusion, Splenomegaly, Hepatosplenomegaly, Lymphadenopathy, Period...	ORPHA:167
Familial Idiopathic Dilatation Of The Right Atrium	Abnormal cardiac ventricular function, Tricuspid regurgitation, Paroxysmal atrial fibrillation, A...	ORPHA:1677
Mycophenolate Mofetil Embryopathy	Ventricular septal defect, Congenital diaphragmatic hernia, Micrognathia, Tracheoesophageal fistu...	ORPHA:268249
Heterotaxy, Visceral, 1, X-Linked	Congenital hip dislocation, Polyhydramnios, Cardiomegaly, Asplenia, Dextrotransposition of the gr...	OMIM:306955
Ventriculomegaly With Cystic Kidney Disease	Polyhydramnios, Ventricular septal defect, Postaxial polydactyly	OMIM:219730
Brachydactyly-Ectrodactyly With Fibular Aplasia Or Hypoplasia	Brachydactyly, Aplasia/Hypoplasia of the fibula, Split foot, Short phalanx of finger, Fibular apl...	OMIM:113310
Charcot-Marie-Tooth Disease Type 1F	Hand muscle atrophy, Proximal muscle weakness in upper limbs, Scapular winging, Tongue atrophy, S...	ORPHA:101085
Humerofemoral Hypoplasia With Radiotibial Ray Deficiency	Hypoplastic scapulae, Bowed humerus, Congenital diaphragmatic hernia, Absent thumb, Elbow flexion...	OMIM:618022
Cutis Laxa, Autosomal Recessive, Type Ic	Osteopenia, Single transverse palmar crease, Micrognathia, Morgagni diaphragmatic hernia, Periorb...	OMIM:613177
Dyrk1A-Related Intellectual Disability Syndrome	Hallux valgus, Aortic regurgitation, Toe syndactyly, Arachnodactyly, Ventricular septal defect, M...	ORPHA:464306
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome	Tented upper lip vermilion, High palate, Atrial septal defect, Patent foramen ovale, Prominent pa...	ORPHA:280633
Xq28 (MECP2) duplication	Malar flattening, Brachycephaly, Narrow mouth	DECIPHER:45
Intellectual Developmental Disorder, Autosomal Recessive 18, With Or Without Epilepsy	Atrial septal defect, Ventricular septal defect	OMIM:614249
Nail-Patella Syndrome	Biceps aplasia, Glenoid fossa hypoplasia, Absence of pectoralis minor muscle, Patellar hypoplasia...	OMIM:161200
X-Linked Intellectual Disability-Cerebellar Hypoplasia-Spondylo-Epiphyseal Dysplasia Syndrome	Mandibular prognathia, Single transverse palmar crease, Polyhydramnios, Atrial septal defect, Cli...	ORPHA:459070
Arboleda-Tham Syndrome	Mandibular prognathia, Secundum atrial septal defect, Downturned corners of mouth, Short philtrum...	OMIM:616268
Van Maldergem Syndrome 2	Osteopenia, Irregular dentition, Short fourth metatarsal, Tented upper lip vermilion, Micrognathi...	OMIM:615546
Zellweger Syndrome	Flat occiput, Ventricular septal defect, Malabsorption, Micrognathia, Pyloric stenosis, Abnormali...	ORPHA:912
Lethal Congenital Contracture Syndrome 2	Skeletal muscle atrophy, Ventricular septal defect, Edema, Micrognathia, Polyhydramnios, Dilated ...	OMIM:607598
Developmental Delay With Short Stature, Dysmorphic Facial Features, And Sparse Hair 1	Natal tooth, Pes planus, Ventricular septal defect, Sagittal craniosynostosis, Micrognathia, Scap...	OMIM:616901
Mgat2-Cdg	Osteopenia, Dental crowding, Ventricular septal defect, Dolichocephaly, Hydrops fetalis, Abnormal...	ORPHA:79329
Lateral Meningocele Syndrome	Vertebral fusion, Decreased muscle mass, Inguinal hernia, Dental crowding, Bicuspid aortic valve,...	OMIM:130720
Primary Pulmonary Hypoplasia	Dextrocardia, Abnormal hemidiaphragm morphology, Micrognathia, Secundum atrial septal defect, Cle...	ORPHA:2257
Jacobsen Syndrome	Long hallux, Abnormality of the anus, Broad hallux phalanx, Finger syndactyly, Short toe, Trigono...	ORPHA:2308
Hutchinson-Gilford Progeria Syndrome	Dental crowding, Short lingual frenulum, Myocardial infarction, Micrognathia, Osteoarthritis, Red...	ORPHA:740
Craniotubular Dysplasia, Ikegawa Type	Thickened calvaria, Metaphyseal dysplasia, Thick upper lip vermilion, Ventricular septal defect, ...	OMIM:619727
Atrial Septal Defect, Coronary Sinus Type	Unroofed coronary sinus, Bundle branch block, Left-to-right shunt, Abnormally loud pulmonic compo...	ORPHA:99104
Joubert Syndrome 15	Preaxial polydactyly	OMIM:614464
15Q14 Microdeletion Syndrome	Inguinal hernia, Ventricular septal defect, Abnormality of the dentition, Cleft palate, Short phi...	ORPHA:261190
Meckel Syndrome	Accessory spleen, Bowing of the long bones, Aplasia/Hypoplasia of the tongue, Talipes, Micrognath...	ORPHA:564
Hartnup Disorder	Glossitis	OMIM:234500
Limb Body Wall Complex	Ventral hernia, Atrial septal defect, Duplication of hand bones, Broad hallux, Aplasia/hypoplasia...	ORPHA:2369
Prader-Willi Syndrome	Osteopenia, Syndactyly, Thin upper lip vermilion, Decreased muscle mass, Polyhydramnios, Dolichoc...	OMIM:176270
Goldberg-Shprintzen Megacolon Syndrome	Finger syndactyly, Aganglionic megacolon, Cleft palate	ORPHA:66629
3Mc Syndrome 3	Diastasis recti, Cleft upper lip, Preaxial polydactyly, Cleft palate, Radioulnar synostosis, Clin...	OMIM:248340
X-Linked Intellectual Disability, Nascimento Type	Pes cavus, Overlapping toe, Ventricular septal defect, Lower extremity joint dislocation, Deep ph...	ORPHA:163956
Culler-Jones Syndrome	Cleft palate, Midface retrusion, Postaxial polydactyly, Cleft upper lip	OMIM:615849
Peters-Plus Syndrome	Short lingual frenulum, Single transverse palmar crease, Limited elbow movement, Proximal placeme...	OMIM:261540
Craniosynostosis 6	Turricephaly, Delayed cranial suture closure, Craniosynostosis, Parietal foramina, Brachycephaly,...	OMIM:616602
Fallot Complex With Severe Mental And Growth Retardation	Double outlet right ventricle, Tetralogy of Fallot, Ventricular septal defect, Pulmonic stenosis	OMIM:601127
Thauvin-Robinet-Faivre Syndrome	Pes planus, Inguinal hernia, Ventricular septal defect, Bowing of the legs, Pedal edema, Mitral v...	OMIM:617107
Renal-Hepatic-Pancreatic Dysplasia 2	Truncus arteriosus, Situs inversus totalis, Asplenia, Femoral bowing, Stillbirth, Aortic valve st...	OMIM:615415
Tyshchenko Syndrome	Ventricular septal defect, Polyhydramnios, High, narrow palate, Cleft palate, Narrow palate, High...	OMIM:615102
Double Outlet Right Ventricle	Tachycardia, Ventricular septal defect, Intestinal malrotation, Submucous cleft hard palate, Doub...	ORPHA:3426
Camptodactyly Syndrome, Guadalajara, Type Iii	Small hypothenar eminence, Torticollis, Delayed skeletal maturation, Absent phalangeal crease, Re...	OMIM:611929
Fanconi Anemia, Complementation Group I	Ventricular septal defect, Absent thumb, Short thumb, Patent foramen ovale, Hypoplasia of the rad...	OMIM:609053
Rere-Related Neurodevelopmental Syndrome	Frontal bossing, Ventricular septal defect, Micrognathia, Abnormal heart morphology, Hip dysplasia	ORPHA:494344
Coenzyme Q10 Deficiency, Primary, 7	Ventricular septal defect, Hypertrophic cardiomyopathy, Hypoplastic left heart, Bradycardia	OMIM:616276
9q subtelomeric deletion syndrome	Abnormal heart morphology, Midface retrusion, Protruding tongue	DECIPHER:52
Microcephalic Osteodysplastic Primordial Dwarfism, Type Iii	Hypoplastic ischia, Micrognathia, Knee flexion contracture, Oligodontia, High palate, Clinodactyl...	OMIM:210730
Intellectual Developmental Disorder, Autosomal Dominant 58	Inguinal hernia, Dental crowding, Single transverse palmar crease, Facial hypotonia, Protruding t...	OMIM:618106
Spondylometaphyseal Dysplasia, Sedaghatian Type	Short metacarpal, Turricephaly, Iliac crest serration, Accelerated skeletal maturation, Metaphyse...	ORPHA:93317
Hydrolethalus Syndrome 1	Accessory spleen, Omphalocele, Median cleft lip, Ventricular septal defect, Polyhydramnios, Micro...	OMIM:236680
Atelis Syndrome 1	Ventricular septal defect, Carious teeth, High palate, Long philtrum, Atrial septal defect	OMIM:620184
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency	Dental crowding, Bicuspid aortic valve, Polyhydramnios, Micrognathia, High palate, Atrial septal ...	ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations	Dental crowding, Bicuspid aortic valve, Polyhydramnios, Micrognathia, High palate, Atrial septal ...	ORPHA:353277
Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart	Syndactyly, Frontal bossing, Ventricular septal defect, Micrognathia, Cleft lip, Furrowed tongue,...	OMIM:616975
Normosmic Congenital Hypogonadotropic Hypogonadism	Osteopenia, Abnormality of the dentition, Generalized joint laxity, Delayed skeletal maturation, ...	ORPHA:432
Tolchin-Le Caignec Syndrome	Arachnodactyly, Diastasis recti, Micrognathia, Submucous cleft hard palate, Scaphocephaly, Oxycep...	OMIM:618971
Microcephaly-Seizures-Intellectual Disability-Heart Disease Syndrome	Ventricular septal defect, Postaxial hand polydactyly, Short ribs, Atrial septal defect, Pulmonar...	ORPHA:2519
Meckel Syndrome, Type 5	Bowing of the long bones, Cleft upper lip, Postaxial hand polydactyly, Cleft palate, Postaxial fo...	OMIM:611561
Calvarial Doughnut Lesions With Bone Fragility	Osteopenia, Recurrent fractures, Carious teeth, Osteoporosis, Femoral bowing, Thickened calvaria	OMIM:126550
Chops Syndrome	Ventricular septal defect, High, narrow palate, Splenomegaly, Anomalous pulmonary venous return, ...	OMIM:616368
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 1	Atrial septal defect, Anal stenosis, Frontal bossing, Congenital diaphragmatic hernia, Micrognath...	OMIM:614080
Noonan Syndrome 8	Atrial septal defect, Ventricular septal defect, Polyhydramnios, Pleural effusion, Mitral regurgi...	OMIM:615355
Lambert Syndrome	Wide mouth, Malar flattening, Inguinal hernia, Ventricular septal defect	ORPHA:1296
Congenital Heart Defects, Multiple Types, 2	Aortic regurgitation, Atrial fibrillation, Ventricular septal defect, Bicuspid aortic valve, Cong...	OMIM:614980
Developmental And Epileptic Encephalopathy 89	Microretrognathia, Thin upper lip vermilion, Omphalocele, Flexion contracture, Cleft palate, Tali...	OMIM:619124
Keutel Syndrome	Sinusitis, Ventricular septal defect, Short hallux, Premature fusion of phalangeal epiphyses, Sho...	OMIM:245150
Methylmalonic Aciduria And Homocystinuria, Cblf Type	Thin upper lip vermilion, Atrial septal defect, Dextrocardia, Tracheoesophageal fistula, High pal...	OMIM:277380
Lethal Congenital Contracture Syndrome 9	Thin upper lip vermilion, Elbow extension contracture, Ulnar deviation of the hand, Polyhydramnio...	OMIM:616503
Tibial Hemimelia-Polysyndactyly-Triphalangeal Thumb Syndrome	Aplasia/Hypoplasia of the thumb, Patellar aplasia, Abnormal fibula morphology, Aplasia/Hypoplasia...	ORPHA:988
3Mc Syndrome 2	Torticollis, Prominence of the premaxilla, Diastasis recti, Limited elbow movement, Cleft upper l...	OMIM:265050
Grange Syndrome	Syndactyly, Bicuspid aortic valve, Recurrent fractures, Renovascular hypertension, Increased susc...	OMIM:602531
17Q24.2 Microdeletion Syndrome	Prolonged QT interval, Thin upper lip vermilion, Micrognathia, Tooth malposition, Upper limb unde...	ORPHA:529962
Brachytelephalangic Chondrodysplasia Punctata	Calcaneal epiphyseal stippling, Ventricular septal defect, Hypoplasia of the maxilla, Abnormal os...	ORPHA:79345
Mosaic Trisomy 8	Frontal bossing, Camptodactyly of finger, Micrognathia, Patellar aplasia, Limitation of joint mob...	ORPHA:96061
Diamond-Blackfan Anemia 12	Ventricular septal defect, Triphalangeal thumb	OMIM:615550
Wolf-Hirschhorn Syndrome	Decreased muscle mass, Single transverse palmar crease, Micrognathia, Orofacial cleft, Downturned...	OMIM:194190
Respiratory Infections, Recurrent, And Failure To Thrive With Or Without Diarrhea	Thin upper lip vermilion, Tricuspid regurgitation, Mediastinal lymphadenopathy, Mitral valve prol...	OMIM:620233
Short-Rib Thoracic Dysplasia 21 Without Polydactyly	Short humerus, Trident pelvis, Frontal bossing, Bowed humerus, Short lingual frenulum, Flexion co...	OMIM:619479
Fucosidosis	Decreased muscle mass, Lipoatrophy, Cardiomegaly, Abnormality of the dentition, Brachycephaly	ORPHA:349
Jacobsen Syndrome	Atrial septal defect, Flat occiput, Ventricular septal defect, Trigonocephaly, Micrognathia, Miss...	OMIM:147791
Acrofacial Dysostosis, Cincinnati Type	Micrognathia, Hypoplasia of the maxilla, Cleft palate, Femoral bowing, Flared lower limb metaphys...	OMIM:616462
Kid Syndrome	Angular cheilitis, Lip fissure, Coxa valga, Equinus calcaneus, Abnormality of the dentition, Scar...	ORPHA:477
Microphthalmia With Brain And Digit Anomalies	Postaxial foot polydactyly, Finger syndactyly, High palate, Proximal placement of thumb	ORPHA:139471
Diaphragmatic Hernia 4, With Cardiovascular Defects	11 pairs of ribs, Finger syndactyly, Diaphragmatic eventration, Ventricular septal defect, Polyhy...	OMIM:620025
Chilton-Okur-Chung Neurodevelopmental Syndrome	Mandibular prognathia, Short fourth metatarsal, Single transverse palmar crease, Polyhydramnios, ...	OMIM:619841
Poland Syndrome	Aplasia/Hypoplasia of the thumb, Congenital diaphragmatic hernia, Aplasia of the pectoralis major...	ORPHA:2911
Radius, Aplasia Of, With Cleft Lip/Palate	Absent radius, Cleft palate, Cleft upper lip	OMIM:179400
Congenital Fiber-Type Disproportion Myopathy	Congenital hip dislocation, Dental crowding, Polyhydramnios, Micrognathia, Flexion contracture, K...	ORPHA:2020
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome	Inguinal hernia, Overlapping toe, Arachnodactyly, Single transverse palmar crease, Micrognathia, ...	ORPHA:83617
Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion	Hallux valgus, Aortic regurgitation, Inguinal hernia, Ventricular septal defect, Cleft soft palat...	ORPHA:268261
Hypogonadotropic Hypogonadism 15 With Or Without Anosmia	Osteopenia, Osteoporosis, Cleft palate, Genu valgum	OMIM:614880
Aneurysm-Osteoarthritis Syndrome	Osteoarthritis, Knee osteoarthritis, High palate, Bifid uvula, Joint laxity, Arachnodactyly, Oste...	ORPHA:284984
Noonan Syndrome 10	Atrial septal defect, Ventricular septal defect, Increased nuchal translucency, Mitral valve prol...	OMIM:616564
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Intermediate Form	Skeletal muscle atrophy, Esophageal stenosis, Anal fissure, Carious teeth, Esophageal stricture, ...	ORPHA:89842
Hepatic Fibrosis-Renal Cysts-Intellectual Disability Syndrome	Clinodactyly of the 5th finger, Glossoptosis, Biparietal narrowing	ORPHA:2031
Humeroradial Synostosis	Humeroradial synostosis, Brachycephaly	OMIM:236400
X-Linked Intellectual Disability, Wilson Type	Mandibular prognathia, Inguinal hernia, Brachycephaly, Wide mouth, Thick vermilion border	ORPHA:85290
Chromosome 4Q32.1-Q32.2 Triplication Syndrome	Microretrognathia, Mandibular prognathia, Frontal bossing, Turricephaly, Aganglionic megacolon, P...	OMIM:613603
Congenital Heart Defects, Multiple Types, 5	Atrial fibrillation, Ventricular septal defect, Bicuspid aortic valve, Dilated cardiomyopathy, Do...	OMIM:617912
Diabetic Embryopathy	Frontal bossing, Ventricular septal defect, Micrognathia, Aplasia/Hypoplasia of the abdominal wal...	ORPHA:1926
Branchial Arch Abnormalities, Choanal Atresia, Athelia, Hearing Loss, And Hypothyroidism Syndrome	Thin upper lip vermilion, Natal tooth, Broad hallux, Single transverse palmar crease, Facial pals...	OMIM:620186
Fbln1-Related Developmental Delay-Central Nervous System Anomaly-Syndactyly Syndrome	Syndactyly, Congenital bilateral hip dislocation	ORPHA:404451
Microphthalmia, Lenz Type	Delayed eruption of teeth, Finger syndactyly, Abnormal dental morphology, Camptodactyly of finger...	ORPHA:568
Osteogenesis Imperfecta, Type I	Osteopenia, Recurrent fractures, Mitral valve prolapse, Femoral bowing, Increased susceptibility ...	OMIM:166200
Neutropenia, Severe Congenital, 4, Autosomal Recessive	Inguinal hernia, Cor triatriatum, Single transverse palmar crease, Perianal abscess, Secundum atr...	OMIM:612541
Desmosterolosis	Frontal bossing, Rhizomelia, Micrognathia, Generalized osteosclerosis, Alveolar ridge overgrowth,...	OMIM:602398
Cleft Palate, Cardiac Defect, Genital Anomalies, And Ectrodactyly	Ventricular septal defect, Cleft upper lip, Split hand, Clubbing, Cleft palate, Tetralogy of Fallot	OMIM:600460
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy	Small cervical vertebral bodies, Frontal bossing, Abnormal acetabulum morphology, Postaxial polyd...	ORPHA:397715
Tukel Syndrome	Syndactyly, Congenital fibrosis of extraocular muscles, Carpal synostosis, Carpal bone aplasia, P...	OMIM:609428
Fetal Akinesia Deformation Sequence 1	Decreased muscle mass, Elbow contracture, Polyhydramnios, Micrognathia, High, narrow palate, Cong...	OMIM:208150
Curry-Jones Syndrome	Bicoronal synostosis, Anal stenosis, Wormian bones, Intestinal pseudo-obstruction, Duplication of...	OMIM:601707
Eisenmenger Syndrome	Ventricular tachycardia, Pedal edema, Aortopulmonary window, Bacterial endocarditis, Supraventric...	ORPHA:97214
Cohen-Gibson Syndrome	Osteopenia, Joint laxity, Long foot, Coxa valga, Hypoplastic iliac wing, Long fingers, Accelerate...	OMIM:617561
Zttk Syndrome	Aortic regurgitation, Frontal bossing, Midface retrusion, Ventricular septal defect, Craniosynost...	OMIM:617140
Cutis Marmorata Telangiectatica Congenita	Finger syndactyly, Toe syndactyly, Telangiectasia of the skin, Micrognathia, Abnormality of the l...	ORPHA:1556
Bruck Syndrome 2	Osteopenia, Inguinal hernia, Flexion contracture, Elbow flexion contracture, Knee flexion contrac...	OMIM:609220
Crouzon Syndrome With Acanthosis Nigricans	Brachycephaly, Craniosynostosis, Midface retrusion	OMIM:612247
Atrial Septal Defect 2	Aortic regurgitation, Ventricular septal defect, Dextrocardia, Mitral regurgitation, Pulmonic ste...	OMIM:607941
Short Stature, Microcephaly, And Endocrine Dysfunction	Inguinal hernia, Dilated cardiomyopathy, Tooth malposition, Limb undergrowth, Clinodactyly, Pes c...	OMIM:616541
Joubert Syndrome 39	Hypoplastic left heart, Joint contracture of the 5th finger, Postaxial polydactyly	OMIM:619562
Toriello-Carey Syndrome	Aganglionic megacolon, Micrognathia, Cleft palate, Anteriorly placed anus, Cardiomyopathy, Abnorm...	ORPHA:3338
Auriculocondylar Syndrome	Abnormality of the temporomandibular joint, Dental crowding, Hamartoma of tongue, Micrognathia, N...	ORPHA:137888
Wolf-Hirschhorn Syndrome	Hypoplastic pubic ramus, Congenital diaphragmatic hernia, Micrognathia, Downturned corners of mou...	ORPHA:280
Diaphyseal Medullary Stenosis With Malignant Fibrous Histiocytoma	Osteopenia, Skeletal muscle atrophy, Stenosis of the medullary cavity of the long bones, Diaphyse...	OMIM:112250
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome	Hallux valgus, Spontaneous, recurrent epistaxis, Mitral valve calcification, Aortic valve calcifi...	ORPHA:2072
Holoprosencephaly	Flat occiput, Congenital diaphragmatic hernia, Abnormality of the spleen, Deep philtrum, Bilatera...	ORPHA:2162
Encephalomyopathy, Mitochondrial, Due To Voltage-Dependent Anion Channel Deficiency	Syndactyly, Umbilical hernia, High palate	OMIM:614520
Ogden Syndrome	Congenital hip dislocation, Bicuspid aortic valve, Cardiomegaly, Secundum atrial septal defect, M...	OMIM:300855
Structural Heart Defects And Renal Anomalies Syndrome	Overlapping toe, Ventricular septal defect, Partial anomalous pulmonary venous return, Atrial sep...	OMIM:617478
Distal Deletion 9P	Abnormality of the dentition, High, narrow palate, Cleft palate, Hernia, Trigonocephaly, Midface ...	ORPHA:1642
Joubert Syndrome 17	Preaxial polydactyly, Postaxial polydactyly, 3-4 finger syndactyly	OMIM:614615
Megabladder, Congenital	Atrial septal defect, Ventricular septal defect, Bicuspid aortic valve, Left ventricular noncompa...	OMIM:618719
Biliary, Renal, Neurologic, And Skeletal Syndrome	Osteopenia, Edema, Polyhydramnios, Secundum atrial septal defect, Primum atrial septal defect, In...	OMIM:619534
Spastic Paraplegia 9A, Autosomal Dominant	Hiatus hernia, Delayed skeletal maturation, Abnormal pelvic girdle bone morphology, Generalized a...	OMIM:601162
Neurodevelopmental Disorder With Hypotonia, Neonatal Respiratory Insufficiency, And Thermodysregulation	Flat occiput, Protruding tongue, Gingival overgrowth, Brachycephaly, Wide mouth, Tracheomalacia	OMIM:618797
Scalp-Ear-Nipple Syndrome	Mandibular prognathia, Finger syndactyly, Frontal bossing, Palpebral edema, Congestive heart fail...	OMIM:181270
Neurofibromatosis Type 1 Due To Nf1 Mutation Or Intragenic Deletion	Sinusitis, Micrognathia, Abnormal tibia morphology, High palate, Atrial septal defect, Abnormal d...	ORPHA:363700
22Q11.2 Deletion Syndrome	Polyhydramnios, Micrognathia, Short philtrum, Hypoplasia of the thymus, Atrial septal defect, Ara...	ORPHA:567
Lateral Meningocele Syndrome	Craniofacial hyperostosis, Prominent metopic ridge, Inguinal hernia, Ventricular septal defect, D...	ORPHA:2789
Pulmonary Atresia With Ventricular Septal Defect	Ventricular septal defect	OMIM:178370
Cardiospondylocarpofacial Syndrome	Joint laxity, Atrial septal defect, Ventricular septal defect, Tarsal synostosis, Congenital diap...	OMIM:157800
Odontochondrodysplasia 2 With Hearing Loss And Diabetes	Osteopenia, Short toe, Retrognathia, Cone-shaped epiphyses of the phalanges of the hand, Delayed ...	OMIM:619269
Van Esch-O'Driscoll Syndrome	Atrial septal defect, Ventricular septal defect, Esophageal atresia, Tracheoesophageal fistula, R...	OMIM:301030
Fanconi Anemia, Complementation Group B	Ventricular septal defect, Absent thumb, Esophageal atresia, Tracheoesophageal fistula, Bilateral...	OMIM:300514
Osteopetrosis With Renal Tubular Acidosis	Recurrent fractures, Persistence of primary teeth, Abnormality of the dentition, Micrognathia, Th...	ORPHA:2785
Chronic Thromboembolic Pulmonary Hypertension	Osteomyelitis, Cardiac shunt, Edema, Pulmonary embolism, Right ventricular failure, Increased pul...	ORPHA:70591
Bardet-Biedl Syndrome 6	Syndactyly, Postaxial polydactyly	OMIM:605231
Mowat-Wilson Syndrome Due To Monosomy 2Q22	Mandibular prognathia, Dental crowding, Bicuspid aortic valve, Cleft hard palate, Asplenia, Calca...	ORPHA:261537
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly	Hypoplasia of the ulna, Early ossification of capital femoral epiphyses, Cone-shaped epiphyses of...	OMIM:208500
Isolated Split Hand-Split Foot Malformation	Finger syndactyly, Split hand, Absent hand, Oligodactyly	ORPHA:2440
Mitochondrial Short-Chain Enoyl-Coa Hydratase 1 Deficiency	Hypertrophic cardiomyopathy, Ventricular septal defect, Bradycardia	OMIM:616277
Ophthalmoplegia, Progressive, With Scrotal Tongue And Mental Deficiency	Furrowed tongue	OMIM:165150
Paget Disease Of Bone 2, Early-Onset	Bowing of the long bones, Short femur, Fractures of the long bones, Bone pain, Osteolysis, Femora...	OMIM:602080
Congenital Disorder Of Glycosylation, Type It	Tachycardia, Ventricular septal defect, Sudden cardiac death, Cardiomegaly, Micrognathia, Dilated...	OMIM:614921
Lelis Syndrome	Mandibular prognathia, Carious teeth, Palmoplantar hyperkeratosis, Furrowed tongue, Hypodontia, M...	ORPHA:140936
Ctcf-Related Neurodevelopmental Disorder	Osteopenia, Single transverse palmar crease, Short philtrum, Joint contracture of the 5th finger,...	ORPHA:363611
Cardiofaciocutaneous Syndrome 3	Ventricular septal defect, Reduced bone mineral density, Wide mouth, Pulmonic stenosis, Atrial se...	OMIM:615279
Posterior Column Ataxia-Retinitis Pigmentosa Syndrome	Flexion contracture of finger, Osteomyelitis, Camptodactyly	ORPHA:88628
Trichorhinophalangeal Syndrome, Type Ii	Mandibular prognathia, Chronic gastritis, Osteopenia, Bicuspid aortic valve, Single transverse pa...	OMIM:150230
Choanal Atresia	Tracheomalacia, Chronic sinusitis, Polydactyly, Craniosynostosis	ORPHA:137914
Methylmalonic Aciduria And Homocystinuria, Cblx Type	Brachycephaly	OMIM:309541
Duplication Of The Pituitary Gland	Abnormality of joint mobility, Polyhydramnios, Supernumerary tooth, Abnormality of masseter muscl...	ORPHA:314621
Nicolaides-Baraitser Syndrome	Enlarged joints, Short lingual frenulum, Single transverse palmar crease, High, narrow palate, Sh...	OMIM:601358
Preaxial Polydactyly-Colobomata-Intellectual Disability Syndrome	Preaxial polydactyly	ORPHA:2921
Leukocyte Adhesion Deficiency Type Ii	Mandibular prognathia, Severe periodontitis, Overlapping toe, Palpebral edema, Protruding tongue,...	ORPHA:99843
Combined Oxidative Phosphorylation Deficiency 25	Intraventricular hemorrhage, Syndactyly, Smooth philtrum, Long philtrum	OMIM:616430
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome	11 pairs of ribs, Atrial septal defect, Accessory spleen, Frontal bossing, Delayed cranial suture...	OMIM:620005
Luscan-Lumish Syndrome	Mandibular prognathia, Malar flattening, Long foot, Advanced ossification of carpal bones	OMIM:616831
Cog1-Cdg	Osteopenia, Thin upper lip vermilion, Rhizomelia, Coxa valga, Micrognathia, Pierre-Robin sequence...	ORPHA:263508
Thoracic Dysplasia-Hydrocephalus Syndrome	Limb undergrowth, Abnormal metaphysis morphology	ORPHA:1861
Pmm2-Cdg	Mandibular prognathia, Osteopenia, Multiple joint contractures, Lymphedema, Intracranial hemorrha...	ORPHA:79318
Mitochondrial Complex Iii Deficiency, Nuclear Type 7	Postaxial polydactyly, Oligohydramnios	OMIM:615824
Combined Oxidative Phosphorylation Deficiency 15	Wolff-Parkinson-White syndrome, Inguinal hernia, Ventricular septal defect, Single transverse pal...	OMIM:614947
Mowat-Wilson Syndrome	Mandibular prognathia, Dental crowding, Bicuspid aortic valve, Cleft hard palate, Asplenia, Calca...	ORPHA:2152
Methylcobalamin Deficiency Type Cble	Syndactyly, Osteoporosis, Hypertension, Lower limb hypertonia, Clinodactyly	ORPHA:2169
Donnai-Barrow Syndrome	Omphalocele, Ventricular septal defect, Intestinal malrotation, Congenital diaphragmatic hernia, ...	OMIM:222448
Adenylosuccinase Deficiency	Thin upper lip vermilion, Prominent metopic ridge, Skeletal muscle atrophy, Brachycephaly, Wide m...	OMIM:103050
Auriculocondylar Syndrome 3	Glossoptosis, Retrognathia, Bifid uvula, Micrognathia	OMIM:615706
Proteasome-Associated Autoinflammatory Syndrome 1	Skeletal muscle atrophy, Cardiomegaly, Adipose tissue loss, Flexion contracture, Bone pain, Loss ...	OMIM:256040
Warburg Micro Syndrome 4	Decreased muscle mass, Narrow mouth, Flexion contracture, Brachycephaly, Long philtrum	OMIM:615663
Ear-Patella-Short Stature Syndrome	Camptodactyly of finger, Aplastic clavicle, Craniosynostosis, Elbow dislocation, High, narrow pal...	ORPHA:2554
Costello Syndrome	Hyperextensibility of the finger joints, Limited elbow movement, Micrognathia, Polyhydramnios, Hi...	OMIM:218040
Atypical Pantothenate Kinase-Associated Neurodegeneration	Tongue atrophy	ORPHA:216873
Ophthalmoplegia-Intellectual Disability-Lingua Scrotalis Syndrome	Facial palsy, Furrowed tongue	ORPHA:2743
Gitelman Syndrome	Prolonged QT interval, Raynaud phenomenon, Pericardial effusion, Rhabdomyolysis, Low-to-normal bl...	ORPHA:358
Spastic Paraplegia, Intellectual Disability, Nystagmus, And Obesity	Frontal bossing, Dental crowding, Polyhydramnios, Brachycephaly, Plagiocephaly, Lower limb hypert...	OMIM:617296
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation	Mandibular prognathia, Dental crowding, Bicuspid aortic valve, Cleft hard palate, Asplenia, Calca...	ORPHA:261552
Charcot-Marie-Tooth Disease Type 4C	Pes planus, Tongue atrophy, Weakness of facial musculature, Abnormal foot morphology, Hammertoe, ...	ORPHA:99949
Mosaic Variegated Aneuploidy Syndrome	Intestinal polyposis, Aortic regurgitation, Atrial septal defect, Frontal bossing, Rhabdomyosarco...	ORPHA:1052
Incontinentia Pigmenti	Delayed eruption of teeth, Finger syndactyly, Abnormal dental morphology, Camptodactyly of finger...	ORPHA:464
Koolen-De Vries Syndrome Due To A Point Mutation	Hand muscle atrophy, Joint dislocation, Bicuspid aortic valve, Calcaneovalgus deformity, Position...	ORPHA:363965
17Q21.31 Microdeletion Syndrome	Hand muscle atrophy, Joint dislocation, Bicuspid aortic valve, Calcaneovalgus deformity, Position...	ORPHA:363958
Coffin-Siris Syndrome 12	Micrognathia, High palate, Patent foramen ovale, Joint laxity, Facial palsy, Short thumb, Ridged ...	OMIM:619325
Trichothiodystrophy	Joint dislocation, Osteopenia, Increased bone mineral density, Multiple joint contractures, Ventr...	ORPHA:33364
Congenitally Corrected Transposition Of The Great Arteries	Wolff-Parkinson-White syndrome, Atrial situs ambiguous, First degree atrioventricular block, Hear...	ORPHA:216694
Immunodeficiency 90 With Encephalopathy, Functional Hyposplenia, And Hepatic Dysfunction	Ventricular septal defect	OMIM:613759
Cardiac Diverticulum	Bicuspid aortic valve, Bicuspid pulmonary valve, Ventricular tachycardia, Atrial septal defect, P...	ORPHA:1686
Lacrimoauriculodentodigital Syndrome	Micrognathia, Xerostomia, Orofacial cleft, Microdontia, Abnormal salivary gland morphology, Abnor...	ORPHA:2363
Structural Brain Anomalies With Impaired Intellectual Development And Craniosynostosis	Flat occiput, Delayed closure of the anterior fontanelle, Brachycephaly, Lambdoidal craniosynosto...	OMIM:618736
Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome Due To 10P11.21P12.31 Microdeletion	Ventricular hypertrophy, Bicuspid aortic valve, Ventricular septal defect, Celiac disease, Absent...	ORPHA:284169
Ablepharon-Macrostomia Syndrome	Ventral hernia, Omphalocele, Short metacarpal, Toe syndactyly, Anteriorly placed anus, Short uppe...	OMIM:200110
Primrose Syndrome	Skeletal muscle atrophy, Hypoplasia of the maxilla, Flexion contracture, Brachycephaly, Knee flex...	OMIM:259050
Frontonasal Dysplasia 3	Brachycephaly, Cleft palate	OMIM:613456
Autosomal Dominant Hypophosphatemic Rickets	Osteomalacia, Bowing of the legs, Rickets, Bone pain, Tooth abscess	ORPHA:89937
Eec Syndrome	Aplasia/Hypoplasia of the thumb, Finger syndactyly, Toe syndactyly, Abnormal dental enamel morpho...	ORPHA:1896
Noonan Syndrome 1	Ventricular septal defect, Micrognathia, Lymphedema, High, narrow palate, Dental malocclusion, Cl...	OMIM:163950
Short Stature And Facioauriculothoracic Malformations	Ventricular septal defect, High palate, Cleft palate, Cleft upper lip	OMIM:609654
Frontonasal Dysplasia-Severe Microphthalmia-Severe Facial Clefting Syndrome	Pericallosal lipoma, Camptodactyly of finger, Hypoplasia of the maxilla, Cleft palate, Finger cli...	ORPHA:306542
Schimmelpenning-Feuerstein-Mims Syndrome	Osteopenia, Abnormality of dental color, Recurrent fractures, Abnormal toe morphology, Abnormal f...	OMIM:163200
Coffin-Siris Syndrome	Delayed eruption of teeth, Thin upper lip vermilion, Joint laxity, Ventricular septal defect, Del...	ORPHA:1465
Thiamine-Responsive Megaloblastic Anemia Syndrome	Ventricular septal defect, Cardiac arrest, Paroxysmal atrial tachycardia, Congestive heart failur...	ORPHA:49827
Frontofacionasal Dysplasia	Non-midline cleft lip, Brachycephaly, Cleft palate, Midface retrusion	ORPHA:1791
Intellectual Developmental Disorder, Autosomal Dominant 48	Joint laxity, Ventricular septal defect, Bicuspid aortic valve, Plagiocephaly, Umbilical hernia, ...	OMIM:617751
Familial Visceral Myopathy	Aganglionic megacolon, Arachnodactyly, Camptodactyly of finger, Micrognathia, Joint stiffness, Ap...	ORPHA:2604
Bardet-Biedl Syndrome 20	Postaxial polydactyly, Postaxial hand polydactyly, 2-3 toe syndactyly, Atrial septal defect, Prea...	OMIM:619471
Lymphangioleiomyomatosis	Gastrointestinal hemorrhage, Lymphedema, Abnormality of the lymphatic system, Chylopericardium, L...	ORPHA:538
Holoprosencephaly-Postaxial Polydactyly Syndrome	Omphalocele, Intestinal malrotation, Polyhydramnios, Micrognathia, Hypoplasia of the premaxilla, ...	ORPHA:2166
Trichohepatoenteric Syndrome 1	Aortic regurgitation, Frontal bossing, Villous atrophy, Ventricular septal defect, Polyhydramnios...	OMIM:222470
Velocardiofacial Syndrome	Inguinal hernia, Ventricular septal defect, Talipes, Abnormality of the hand, Velopharyngeal insu...	OMIM:192430
Kindler Epidermolysis Bullosa	Finger syndactyly, Turricephaly, Camptodactyly of finger, Abnormal dental enamel morphology, Prem...	ORPHA:2908
Epilepsy, X-Linked 2, With Or Without Impaired Intellectual Development And Dysmorphic Features	Down-sloping shoulders, Micrognathia, Long fingers, 2-3 toe cutaneous syndactyly, Cleft palate, H...	OMIM:301091
Cerebrofaciothoracic Dysplasia	Polyhydramnios, Cleft upper lip, Brachycephaly, Cleft palate, Wide mouth, Hernia, Midface retrusi...	ORPHA:1394
Transaldolase Deficiency	Ventricular septal defect, Splenomegaly, Deep philtrum, Telangiectasia, Wide mouth, Hepatosplenom...	OMIM:606003
Fanconi Anemia, Complementation Group U	Absent thumb, Absent radius, Hypoplasia of the radius, Aplasia of the 1st metacarpal, Unilateral ...	OMIM:617247
Limb-Mammary Syndrome	Syndactyly, Toe syndactyly, Submucous cleft soft palate, Cleft hard palate, Cleft lip, 3-4 finger...	ORPHA:69085
Intellectual Disability-Seizures-Abnormal Gait-Facial Dysmorphism Syndrome	Everted upper lip vermilion, Ventricular septal defect, Micrognathia, Metatarsus adductus, Abnorm...	ORPHA:513456
Fanconi Anemia, Complementation Group F	Polyhydramnios, Absent thumb, Short thumb, Hypoplasia of the radius, 2-3 finger syndactyly, Atria...	OMIM:603467
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion	Dental crowding, Bicuspid aortic valve, Atrial septal defect, Joint laxity, Broad hallux, Supernu...	ORPHA:353281
Diamond-Blackfan Anemia	Ventricular septal defect, Cleft soft palate, Nonimmune hydrops fetalis, Absent thumb, Micrognath...	ORPHA:124
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2Z	Distal lower limb amyotrophy, Proximal muscle weakness in upper limbs, Flexion contracture of fin...	ORPHA:466768
Developmental And Epileptic Encephalopathy 100	Tented upper lip vermilion, Single transverse palmar crease, Protruding tongue, Micrognathia, Bil...	OMIM:619777
Arthrogryposis, Renal Dysfunction, And Cholestasis 2	Ventricular septal defect, Talipes calcaneovalgus, Hip dysplasia, Arthrogryposis multiplex congen...	OMIM:613404
Tricuspid Atresia	Ventricular septal defect, Hypoplasia of right ventricle, Transposition of the great arteries, At...	ORPHA:1209
Genitopatellar Syndrome	Delayed eruption of teeth, Hip contracture, Anal stenosis, Congenital hip dislocation, Ventricula...	OMIM:606170
Aica-Ribosiduria	Wide mouth, Thin upper lip vermilion, Brachycephaly	ORPHA:250977
Tetrasomy 9P	Joint dislocation, Myositis, Dental crowding, Micrognathia, Downturned corners of mouth, High pal...	ORPHA:3310
Intellectual Disability-Hypotonic Facies Syndrome, X-Linked, 1	Tented upper lip vermilion, Micrognathia, Talipes calcaneovalgus, Widely-spaced maxillary central...	OMIM:309580
Frontonasal Dysplasia 2	Craniosynostosis, Conical tooth, Parietal foramina, Calvarial skull defect, Brachycephaly, Widely...	OMIM:613451
Lymphedema, Cardiac Septal Defects, And Characteristic Facies	Omphalocele, Thin upper lip vermilion, Atrial flutter, Overriding aorta, Ventricular septal defec...	OMIM:601927
Beaulieu-Boycott-Innes Syndrome	Ventricular septal defect, Micrognathia, Carious teeth, Velopharyngeal insufficiency, Dental malo...	OMIM:613680
Macrocephaly, Neurodevelopmental Delay, Lymphoid Hyperplasia, And Persistent Fetal Hemoglobin	Ventricular septal defect, Dental crowding, Persistence of primary teeth, Hiatus hernia, Increase...	OMIM:619769
Bardet-Biedl Syndrome	Finger syndactyly, Postaxial hand polydactyly, Hypertension, Skeletal muscle atrophy	ORPHA:110
Acheiropodia	Short humerus, Aplasia of the ulna, Absent radius, Absent hand, Upper limb phocomelia, Abnormal e...	ORPHA:931
Giant Cell Arteritis	Pericarditis, Epistaxis, Sudden cardiac death, Joint stiffness, Mediastinal lymphadenopathy, Vasc...	ORPHA:397
Split-Hand/Foot Malformation With Long Bone Deficiency 1	Short hallux, Aplasia of the 3rd finger, Patellar aplasia, Split hand, Hand monodactyly, Split fo...	OMIM:119100
Serkal Syndrome	Ventricular septal defect, Congenital diaphragmatic hernia, Malrotation of small bowel, Orofacial...	ORPHA:139466
Neurodevelopmental Disorder With Cerebral Atrophy And Variable Facial Dysmorphism	Thin upper lip vermilion, Tented upper lip vermilion, Brachycephaly, High palate, Short philtrum,...	OMIM:619244
Congenital Disorder Of Deglycosylation 1	Facial hypotonia, Single transverse palmar crease, Small hand, Osteoporosis, Intrinsic hand muscl...	OMIM:615273
Choroidal Atrophy-Alopecia Syndrome	Finger syndactyly	ORPHA:1433
Joubert Syndrome 1	Protruding tongue, Postaxial hand polydactyly, Postaxial foot polydactyly, Macroglossia, Plagioce...	OMIM:213300
Marfan Syndrome	Osteopenia, Skeletal muscle atrophy, Dental crowding, Limited elbow movement, Micrognathia, High,...	ORPHA:558
Arteriosclerosis, Severe Juvenile	Myocardial infarction, Hypertension, Hip dysplasia, Gastric ulcer, Short phalanx of finger	OMIM:208060
Focal Dermal Hypoplasia	Congenital hip dislocation, Congenital diaphragmatic hernia, Osteopathia striata, Short metatarsa...	OMIM:305600
Dubowitz Syndrome	Delayed eruption of teeth, Syndactyly, Inguinal hernia, Pes planus, Single transverse palmar crea...	OMIM:223370
Charcot-Marie-Tooth Disease Type 4B2	Proximal muscle weakness in upper limbs, Tongue atrophy, Pes planus, Hand muscle weakness, Arefle...	ORPHA:99956
Spondylo-Ocular Syndrome	Pes planus, Facial hypotonia, Ventricular septal defect, Osteoporosis, Joint hyperflexibility, Th...	ORPHA:85194
Vater/Vacterl Association	Syndactyly, Ventricular septal defect, Absent radius, Short thumb, Esophageal atresia, Hypoplasia...	OMIM:192350
Fanconi Anemia, Complementation Group N	Short thumb, Ventricular septal defect	OMIM:610832
Neuroocular Syndrome	Hyperextensibility of the finger joints, Scapular winging, Pes planus, Genu recurvatum, Tapered f...	OMIM:619539
Cowden Syndrome 5	Colonic diverticula, Micrognathia, Hypoplasia of the maxilla, Palmoplantar hyperkeratosis, Furrow...	OMIM:615108
Microcephaly-Corpus Callosum Hypoplasia-Intellectual Disability-Facial Dysmorphism Syndrome	Prominent metopic ridge, Inguinal hernia, Broad hallux, Facial hypotonia, Postaxial polydactyly, ...	ORPHA:457284
Fraser Syndrome 3	Nonimmune hydrops fetalis, Micrognathia, Short toe, Cutaneous syndactyly, Stillbirth, Ascites, Ol...	OMIM:617667
X-Linked Agammaglobulinemia	Osteomyelitis, Sinusitis, Abnormality of the tonsils, Malabsorption, Abnormality of the lymphatic...	ORPHA:47
Primary Non-Essential Cutis Verticis Gyrata	Atrial septal defect, Keloids, Ventricular septal defect	ORPHA:357225
Ulbright-Hodes Syndrome	Short humerus, Short metacarpal, Micrognathia, Narrow mouth, Humeroradial synostosis, Hypoplasia ...	ORPHA:3404
Intellectual Developmental Disorder, Autosomal Dominant 30, With Speech Delay And Behavioral Abnormalities	Wide mouth, Brachycephaly	OMIM:616083
Microphthalmia, Syndromic 1	Dental crowding, Abnormal palmar dermatoglyphics, Bicuspid aortic valve, High, narrow palate, Rec...	OMIM:309800
Opitz Gbbb Syndrome	Congenital diaphragmatic hernia, Micrognathia, High palate, Atrial septal defect, Patent foramen ...	ORPHA:2745
Townes-Brocks Syndrome 1	Short metatarsal, Triphalangeal thumb, Atrial septal defect, 2-4 finger syndactyly, 2-3 toe synda...	OMIM:107480
Tsh-Secreting Pituitary Adenoma	Osteopenia, Supraventricular arrhythmia, Pericardial effusion, Congestive heart failure, Osteopor...	ORPHA:91347
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation	Aortic regurgitation, Ventricular septal defect, Ankle flexion contracture, Tapered finger, Polyh...	ORPHA:464311
Truncus Arteriosus	Aortic regurgitation, Tachycardia, Pulmonary edema, Ventricular septal defect, Abnormal heart val...	ORPHA:3384
Burning Mouth Syndrome	Abnormality of taste sensation, Parageusia, Abnormality of the gingiva, Strawberry tongue, Xerost...	ORPHA:353253
Aphalangy-Hemivertebrae-Urogenital-Intestinal Dysgenesis Syndrome	Finger syndactyly, Toe syndactyly, Elbow dislocation, Aplasia/Hypoplasia of the phalanges of the ...	ORPHA:1112
Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy	Myositis, Absent muscle fiber merosin, Abnormality of the temporomandibular joint, Facial palsy, ...	ORPHA:258
Bloom Syndrome	Syndactyly, Agenesis of maxillary lateral incisor, Hand polydactyly, Dolichocephaly, Clinodactyly...	OMIM:210900
Paternal Uniparental Disomy Of Chromosome 6	Joint laxity, Ventricular septal defect, Cardiomegaly, Micrognathia, Gingival overgrowth, Dehydra...	ORPHA:96191
Cowden Syndrome 6	Colonic diverticula, Micrognathia, Hypoplasia of the maxilla, Palmoplantar hyperkeratosis, Furrow...	OMIM:615109
Neurodevelopmental Disorder With Dysmorphic Facies, Sleep Disturbance, And Brain Abnormalities	Mandibular prognathia, Ventricular septal defect, Thick lower lip vermilion, Submucous cleft hard...	OMIM:619103
Legius Syndrome	Paroxysmal atrial tachycardia, Mitral valve prolapse, Diaphyseal dysplasia, Multiple lipomas, Pol...	ORPHA:137605
Lymphedema-Distichiasis Syndrome	Ventricular septal defect, Predominantly lower limb lymphedema, Nonimmune hydrops fetalis, Cleft ...	OMIM:153400
Intellectual Developmental Disorder, Autosomal Dominant 47	Joint laxity, Ventricular septal defect, Increased nuchal translucency, Wide mouth, Widely-spaced...	OMIM:617635
Lacrimoauriculodentodigital Syndrome 1	Absence of Stensen duct, Preaxial polydactyly, Xerostomia, Radial deviation of the 3rd finger, Co...	OMIM:149730
Esophageal Atresia	Omphalocele, Barrett esophagus, Ventricular septal defect, Intestinal malrotation, Polyhydramnios...	ORPHA:1199
Noonan Syndrome 3	Frontal bossing, Ventricular septal defect, Sagittal craniosynostosis, Polyhydramnios, Dolichocep...	OMIM:609942
Gastrointestinal Defects And Immunodeficiency Syndrome 1	Omphalocele, Intestinal obstruction, Jejunal atresia, Intestinal malrotation, Ileal atresia, Vent...	OMIM:243150
Thiamine-Responsive Megaloblastic Anemia Syndrome	Ventricular septal defect, Situs inversus totalis, Cardiomyopathy, Atrial septal defect, Arrhythmia	OMIM:249270
Charge Syndrome	Abnormal palmar dermatoglyphics, Polyhydramnios, Micrognathia, Secundum atrial septal defect, Han...	OMIM:214800
Congenital Alveolar Capillary Dysplasia	Aganglionic megacolon, Intestinal malrotation, Bicuspid aortic valve, Ventricular septal defect, ...	ORPHA:210122
Myopathy With Extrapyramidal Signs	Joint laxity, Tented upper lip vermilion, Ventricular septal defect, Splenomegaly, Calf muscle hy...	OMIM:615673
Williams Syndrome	Osteopenia, Bicuspid aortic valve, Myocardial infarction, Cardiomegaly, Micrognathia, Periorbital...	ORPHA:904
Fadd-Related Immunodeficiency	Ventricular septal defect	ORPHA:306550
Agel Amyloidosis	Tongue atrophy, Facial palsy, Edema, Xerostomia, Cardiomyopathy, Blepharochalasis, Abnormal splee...	ORPHA:85448
Juvenile Sialidosis Type 2	Inguinal hernia, Protruding tongue, Gingival overgrowth, Hepatosplenomegaly, Abnormal heart morph...	ORPHA:93399
Acquired Hypertrichosis Lanuginosa	Macroglossia, Glossitis, Lymphadenopathy	ORPHA:2221
Neurodevelopmental Disorder With Dysmorphic Facies And Thin Corpus Callosum	Frontal bossing, Torticollis, Exaggerated cupid's bow, Tapered finger, Dolichocephaly, Plagioceph...	OMIM:619480
Bifid Nose With Or Without Anorectal And Renal Anomalies	Short lingual frenulum, Ebstein anomaly of the tricuspid valve, Brachycephaly, Anteriorly placed ...	OMIM:608980
Leopard Syndrome 1	Mandibular prognathia, Bundle branch block, Scapular winging, Limited elbow movement, Missing rib...	OMIM:151100
Noonan Syndrome-Like Disorder With Loose Anagen Hair 2	Thin upper lip vermilion, Frontal bossing, Tricuspid regurgitation, Ventricular septal defect, Jo...	OMIM:617506
Kidney Tubulopathy-Dilated Cardiomyopathy Syndrome	Sudden cardiac death, Pericardial effusion, Congestive heart failure, Dilated cardiomyopathy, Pul...	ORPHA:73224
Right Atrial Isomerism	Right atrial isomerism, Inguinal hernia, Ventricular septal defect, Dextrocardia, Situs inversus ...	OMIM:208530
Seizures, Scoliosis, And Macrocephaly/Microcephaly Syndrome	Pes planus, Overlapping toe, Intestinal malrotation, Cerebral hemorrhage, Hypoplastic philtrum, H...	OMIM:616682
Aortic Arch Interruption	Bicuspid aortic valve, Aortic valve atresia, Pedal edema, Aortopulmonary window, Absent pulse, Si...	ORPHA:2299
Senior-Loken Syndrome 8	Polydactyly	OMIM:616307
Donnai-Barrow Syndrome	Omphalocele, Ventricular septal defect, Intestinal malrotation, Congenital diaphragmatic hernia, ...	ORPHA:2143
Cutis Marmorata Telangiectatica Congenita	Hypertension, Telangiectasia, Short lower limbs, Bowing of the legs	OMIM:219250
Hartsfield Syndrome	Syndactyly, Median cleft lip, Craniosynostosis, Cleft upper lip, Cleft palate, Ectrodactyly, Hypo...	OMIM:615465
Proteus Syndrome	Decreased muscle mass, Pulmonary embolism, Neoplasm of the thymus, Lymphedema, Abnormal finger mo...	ORPHA:744
Amyotrophic Lateral Sclerosis 12 With Or Without Frontotemporal Dementia	Tongue atrophy, Tongue fasciculations	OMIM:613435
Renal Agenesis	Ventricular septal defect, Hypertension, Talipes equinovarus, Anal atresia, Oligohydramnios	ORPHA:411709
Methylmalonic Acidemia With Homocystinuria Type Cblf	Intraventricular hemorrhage, Cleft palate, Abnormal heart morphology, Stomatitis, Glossitis	ORPHA:79284
Microphthalmia, Syndromic 9	Inguinal hernia, Ventricular septal defect, Congenital diaphragmatic hernia, Micrognathia, Hypopl...	OMIM:601186
Lipoid Proteinosis	Abnormal oral mucosa morphology, Scarring, Abnormality of the gingiva, Thick lower lip vermilion,...	ORPHA:530
Pallister-Killian Syndrome	Congenital hip dislocation, Tented upper lip vermilion, Single transverse palmar crease, Congenit...	OMIM:601803
Loeys-Dietz Syndrome	Joint dislocation, Pes planus, Arachnodactyly, Camptodactyly of finger, Cardiac arrest, Craniosyn...	ORPHA:60030
Fanconi Anemia, Complementation Group C	Ventricular septal defect, Absent thumb, Absent radius, Short thumb, Flexion contracture, Complet...	OMIM:227645
Hypophosphatemic Bone Disease	Rickets, Osteomalacia, Bowing of the legs	OMIM:146350
Melkersson-Rosenthal Syndrome	Facial palsy, Edema, Periorbital edema, Cheilitis, Lymphadenopathy, Furrowed tongue, Macroglossia	ORPHA:2483
Bardet-Biedl Syndrome 12	Postaxial foot polydactyly, Postaxial hand polydactyly, Polydactyly	OMIM:615989
Poirier-Bienvenu Neurodevelopmental Syndrome	Mandibular prognathia, Protruding tongue, Downturned corners of mouth, Open mouth, Smooth philtrum	OMIM:618732
Opitz Gbbb Syndrome	Thin upper lip vermilion, Inguinal hernia, Frontal bossing, Ventricular septal defect, Cleft uppe...	OMIM:300000
Dpagt1-Cdg	Prolonged QT interval, Arachnodactyly, Lipodystrophy, Flexion contracture, Osteoporosis, Intracra...	ORPHA:86309
Noonan Syndrome-Like Disorder With Loose Anagen Hair 1	Aortic regurgitation, Joint laxity, Inguinal hernia, Ventricular septal defect, Polyhydramnios, D...	OMIM:607721
Femur, Unilateral Bifid, With Monodactylous Ectrodactyly	Aplasia of the ulna, Split hand, Bifid femur, Hand monodactyly, Absent tibia, Foot monodactyly	OMIM:228250
Pontocerebellar Hypoplasia, Type 17	Secundum atrial septal defect, Microretrognathia, Ventricular septal defect, Limb hypertonia	OMIM:619909
Cowden Syndrome 1	Colonic diverticula, Micrognathia, Hypoplasia of the maxilla, Palmoplantar hyperkeratosis, Furrow...	OMIM:158350
Early Infantile Epileptic Encephalopathy	Ventricular septal defect, Cleft palate, Short finger, Broad finger, Umbilical hernia, Broad phal...	ORPHA:1934
Agnathia-Holoprosencephaly-Situs Inversus Syndrome	Polyhydramnios, Situs inversus totalis, Narrow mouth, Mandibular aplasia, Microglossia	ORPHA:990
Linear Skin Defects With Multiple Congenital Anomalies 1	Atrial septal defect, Overriding aorta, Ventricular septal defect, Single transverse palmar creas...	OMIM:309801
Hydrocephalus, Congenital, 2, With Or Without Brain Or Eye Anomalies	Atrial septal defect, Frontal bossing, Right atrial enlargement	OMIM:615219
Brown-Vialetto-Van Laere Syndrome 1	Hand muscle atrophy, Skeletal muscle atrophy, Tongue atrophy, Facial palsy, Ankle clonus, Tongue ...	OMIM:211530
Microcephaly 26, Primary, Autosomal Dominant	Protruding tongue, Gingival overgrowth, Long philtrum, Trigonocephaly, Patent foramen ovale	OMIM:619179
Scimitar Syndrome	Left-to-right shunt, Ventricular septal defect, Dextrocardia, Mitral atresia, Abnormal hemidiaphr...	ORPHA:185
Kawasaki Disease	Pericarditis, Abnormal heart valve morphology, Edema, Congestive heart failure, Myocarditis, Vasc...	ORPHA:2331
Slc39A8-Cdg	Osteopenia, Craniosynostosis, Elbow flexion contracture, Knee flexion contracture, Cutaneous synd...	ORPHA:468699
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Severe Form	Osteopenia, Erosion of oral mucosa, Foot joint contracture, Anal fissure, Oral mucosal blisters, ...	ORPHA:79408
Fraser Syndrome 1	Aplasia/Hypoplasia of the thumb, Abnormal small intestine morphology, Dental crowding, Aplasia/Hy...	OMIM:219000
Chand Syndrome	Short fifth metatarsal, Cleft palate, Agenesis of permanent teeth, Abnormal oral frenulum morphol...	ORPHA:1401
Anemia, Congenital Dyserythropoietic, Type Ia	Splenomegaly, Syndactyly, Hydrops fetalis	OMIM:224120
Corpus Callosum Agenesis-Intellectual Disability-Coloboma-Micrognathia Syndrome	Ventricular septal defect, Retrognathia, High palate, Cleft palate	ORPHA:52055
Hydrops, Lactic Acidosis, And Sideroblastic Anemia	Overriding aorta, Ventricular septal defect, Nonimmune hydrops fetalis, Hypertension, Second degr...	OMIM:617021
Plague	Chapped lip, Tachycardia, Edema, Hematemesis, Lymphadenitis, Splenomegaly, Abnormality of the elb...	ORPHA:707
Adult Syndrome	Finger syndactyly, Toe syndactyly, Abnormal dental morphology, Abnormality of the dentition, Spli...	ORPHA:978
Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Dominant	Elbow flexion contracture, Corneal scarring, Knee flexion contracture, Furrowed tongue, Microdont...	OMIM:148210
Umbilical Cord Ulceration-Intestinal Atresia Syndrome	Ventricular septal defect, Polyhydramnios, Hydrops fetalis, Intestinal atresia, Abnormal tricuspi...	ORPHA:3405
Diets-Jongmans Syndrome	Thin upper lip vermilion, Inguinal hernia, Ventricular septal defect, Congenital diaphragmatic he...	OMIM:618846
Chromosome 17Q23.1-Q23.2 Deletion Syndrome	Long toe, Pes planus, Bicuspid aortic valve, Secundum atrial septal defect, Long fingers, Plagioc...	OMIM:613355
Atrial Septal Defect 7 With Or Without Atrioventricular Conduction Defects	Atrial fibrillation, Ventricular septal defect, Secundum atrial septal defect, Prolonged PR inter...	OMIM:108900
Blau Syndrome	Pericarditis, Camptodactyly of finger, Synovitis, Tendonitis, Hypertension, Arthritis, Joint swel...	OMIM:186580
X-Linked Lissencephaly With Abnormal Genitalia	Ventricular septal defect, Micrognathia, Aganglionic megacolon, Malabsorption	ORPHA:452
Williams-Beuren Syndrome	Osteopenia, Bicuspid aortic valve, Rectal prolapse, Flexion contracture, Atrial septal defect, Cl...	OMIM:194050
Cntnap2-Related Developmental And Epileptic Encephalopathy	Pes cavus, Preaxial polydactyly	ORPHA:163681
Fraser Syndrome 2	Intestinal malrotation, Rectal atresia, Cutaneous syndactyly, Hypoplasia of the thymus, Narrow mo...	OMIM:617666
Wiedemann-Rautenstrauch Syndrome	Osteopenia, Congenital malformation of the left heart, Downturned corners of mouth, Hypoplastic v...	ORPHA:3455
Popliteal Pterygium Syndrome	Cleft upper lip, Lower lip pit, Fibrous syngnathia, Cleft palate, Popliteal pterygium, Cutaneous ...	OMIM:119500
Deafness-Craniofacial Syndrome	Frontal bossing, Short lingual frenulum, Abnormality of the dentition, Short philtrum, Bifid tong...	ORPHA:3241
15Q11.2 Microdeletion Syndrome	Ventricular septal defect, Abnormal heart morphology, Total anomalous pulmonary venous return, At...	ORPHA:261183
Mckusick-Kaufman Syndrome	Syndactyly, Congenital hip dislocation, Aganglionic megacolon, Mesoaxial hand polydactyly, Edema,...	OMIM:236700
Fanconi Renotubular Syndrome 3	Rickets, Bowing of the legs	OMIM:615605
Ramos-Arroyo Syndrome	Frontal bossing, Aganglionic megacolon, Carious teeth, Xerostomia, Smooth tongue, Narrow mouth, A...	ORPHA:1051
Congenital Disorder Of Glycosylation, Type Iq	Brachycephaly	OMIM:612379
Hereditary Hypophosphatemic Rickets With Hypercalciuria	Osteomalacia, Bowing of the legs, Bone pain, Reduced bone mineral density, Hypophosphatemic ricke...	ORPHA:157215
Deafness, Congenital Heart Defects, And Posterior Embryotoxon	Tetralogy of Fallot, Ventricular septal defect	OMIM:617992
Kabuki Syndrome 1	Joint dislocation, Atrial septal defect, Anal stenosis, Congenital hip dislocation, Ventricular s...	OMIM:147920
Microphthalmia/Coloboma And Skeletal Dysplasia Syndrome	Pes planus, Rhizomelia, 2-3 toe syndactyly, Long philtrum, Recurrent patellar dislocation, 3-4 fi...	OMIM:615877
Neurodevelopmental Disorder With Impaired Language And Ataxia And With Or Without Seizures	Hand clenching, Limb hypertonia, Protruding tongue	OMIM:619580
Heterotaxy, Visceral, 4, Autosomal	Ventricular septal defect, Dextrocardia, Complete atrioventricular canal defect, Dextrotransposit...	OMIM:613751
Diamond-Blackfan Anemia 10	Ventricular septal defect, Congenital diaphragmatic hernia, Morgagni diaphragmatic hernia, Microg...	OMIM:613309
Methimazole Embryofetopathy	Ventricular septal defect, Polyhydramnios, Esophageal atresia, Tracheoesophageal fistula, Calvari...	ORPHA:1923
Developmental Delay, Impaired Speech, And Behavioral Abnormalities	Bicuspid aortic valve, Single transverse palmar crease, High, narrow palate, Short philtrum, High...	OMIM:619475
Camptodactyly Syndrome, Guadalajara Type 3	Osteopenia, Sternocleidomastoid amyotrophy, Delayed skeletal maturation, Small hand, Short foot, ...	ORPHA:488434
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1	Sinusitis, Malabsorption, Micrognathia, Protruding tongue, Macroglossia, Malar flattening	OMIM:242860
46,Xx Sex Reversal 5	Secundum atrial septal defect, Hypoplastic left heart, Ventricular septal defect, Aplasia of the ...	OMIM:618901
Angelman Syndrome Due To Maternal 15Q11Q13 Deletion	Mandibular prognathia, Limitation of movement at ankles, Flat occiput, Protruding tongue, Wide mo...	ORPHA:98794
Histiocytoid Cardiomyopathy	Wolff-Parkinson-White syndrome, Atrial flutter, Tachycardia, Atrial fibrillation, Ventricular sep...	ORPHA:137675
Intellectual Developmental Disorder, Autosomal Recessive 71	Ventricular septal defect, Increased overbite	OMIM:618504
Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts	Neonatal death, Ventricular septal defect	OMIM:613730
Holoprosencephaly 9	Hypoplasia of the premaxilla, Cleft upper lip, Hypoplasia of the maxilla, Postaxial hand polydact...	OMIM:610829
Congenital Heart Defects, Multiple Types, 6	Ventricular septal defect, Secundum atrial septal defect, Complete atrioventricular canal defect,...	OMIM:613854
Retinitis Pigmentosa 74	Polydactyly	OMIM:616562
Cowden Syndrome	Furrowed tongue, Hamartomatous polyposis, Macroglossia, Palmoplantar keratoderma, High palate, Co...	ORPHA:201
Monosomy 13Q14	Aplasia/Hypoplasia of the thumb, Finger syndactyly, Trigonocephaly, Micrognathia, Clinodactyly of...	ORPHA:1587
Short Stature, Developmental Delay, And Congenital Heart Defects	Atrial septal defect, Patent foramen ovale, Ventricular septal defect	OMIM:617044
Neurodevelopmental Disorder With Microcephaly, Cerebral Atrophy, And Visual Impairment	Aortic regurgitation, Tricuspid regurgitation, Bicuspid aortic valve, Ventricular septal defect, ...	OMIM:620066
Neurodevelopmental Disorder With Dysmorphic Facies And Cerebellar Hypoplasia	Accessory spleen, Thin upper lip vermilion, Ventricular septal defect, Exaggerated cupid's bow, F...	OMIM:619306
Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities	Broad toe, Atrial septal defect, Ventricular septal defect, Single transverse palmar crease, Tape...	OMIM:619522
Genitourinary And/Or Brain Malformation Syndrome	Omphalocele, Syndactyly, Jejunal atresia, Acrania, Ileal atresia, Micrognathia, Joint stiffness, ...	OMIM:618820
Corpus Callosum, Agenesis Of, With Impaired Intellectual Development, Ocular Coloboma, And Micrognathia	Ventricular septal defect, Retrognathia, High palate, Bifid uvula	OMIM:300472
Angelman Syndrome Due To A Point Mutation	Mandibular prognathia, Flat occiput, Protruding tongue, Wide mouth, Widely spaced teeth	ORPHA:411511
Holoprosencephaly 13, X-Linked	Median cleft lip, Ventricular septal defect, Micrognathia, Submucous cleft hard palate, Cleft pal...	OMIM:301043
Fraser Syndrome	Omphalocele, Finger syndactyly, Anal stenosis, Toe syndactyly, Dental crowding, Cleft upper lip, ...	ORPHA:2052
Thakker-Donnai Syndrome	Ventricular septal defect, Congenital diaphragmatic hernia, Tracheoesophageal fistula, Downturned...	ORPHA:1780
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2	Microretrognathia, Accessory spleen, Ventricular septal defect, Splenomegaly, Lymphadenopathy, Hi...	OMIM:619418
Johanson-Blizzard Syndrome	Single transverse palmar crease, Downturned corners of mouth, Anteriorly placed anus, Atrial sept...	OMIM:243800
Ventricular Septal Defect 3	Atrial septal defect, Ventricular septal defect	OMIM:614432
Faundes-Banka Syndrome	Thin upper lip vermilion, Frontal bossing, Pes planus, Fetal ascites, Micrognathia, Cleft palate,...	OMIM:619376
Pitt-Hopkins-Like Syndrome 2	Wide mouth, Pulmonic stenosis, Protruding tongue	OMIM:614325
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Hypermethylation	Omphalocele, Ventricular septal defect, Diastasis recti, Polyhydramnios, Abnormal heart morpholog...	ORPHA:254534
Common Variable Immunodeficiency	Gastrointestinal stroma tumor, Splenomegaly, Vasculitis, Brachycephaly, Lymphadenopathy, Anal atr...	ORPHA:1572
Mucoepithelial Dysplasia, Hereditary	Erythematous oral mucosa, Cor pulmonale, Furrowed tongue, Melena, Corneal neovascularization	OMIM:158310
Primary Hyperaldosteronism-Seizures-Neurological Abnormalities Syndrome	Ventricular hypertrophy, Ventricular septal defect, Epistaxis, Intracranial hemorrhage, Hypertens...	ORPHA:369929
Frontofacionasal Dysplasia	Frontal cutaneous lipoma, Cleft upper lip, Brachycephaly, Orofacial cleft, Midface retrusion, Mal...	OMIM:229400
Meacham Syndrome	Accessory spleen, Bicuspid aortic valve, Ventricular septal defect, Dextrocardia, Aplasia of the ...	OMIM:608978
Primary Aldosteronism, Seizures, And Neurologic Abnormalities	Ventricular septal defect, Biventricular hypertrophy, Hypertension, Second degree atrioventricula...	OMIM:615474
Double Outlet Left Ventricle	Double outlet left ventricle, Ventricular septal defect, Cardiomegaly, Bicuspid pulmonary valve, ...	ORPHA:3427
Trichothiodystrophy 4, Nonphotosensitive	Retrognathia, Ventricular septal defect, Hypoplasia of teeth	OMIM:234050
Methylmalonic Acidemia With Homocystinuria, Type Cblc	Pulmonary embolism, Dilated cardiomyopathy, Subdural hemorrhage, Hydrops fetalis, Dehydration, Ab...	ORPHA:79282
Ciliary Dyskinesia, Primary, 30	Situs inversus totalis, Chronic sinusitis, Ventricular septal defect, Dextrocardia	OMIM:616037
Kapur-Toriello Syndrome	Tetralogy of Fallot, Ventricular septal defect, Intestinal malrotation, Orofacial cleft	ORPHA:2328
Dent Disease	Enlarged epiphyses, Bulging epiphyses, Enlargement of the ankles, Osteomalacia, Recurrent fractur...	ORPHA:1652
Odontoonychodermal Dysplasia	Plantar hyperkeratosis, Palmoplantar hyperkeratosis, Abnormality of primary teeth, Agenesis of pe...	OMIM:257980
Laubry-Pezzi Syndrome	Aortic regurgitation, Aortic valve prolapse, Mildly reduced left ventricular ejection fraction, B...	ORPHA:99094
Bazex-Dupre-Christol Syndrome	Joint hypermobility, Furrowed tongue	OMIM:301845
Spinocerebellar Ataxia 36	Skeletal muscle atrophy, Tongue atrophy, Tongue fasciculations	OMIM:614153
Cardiac Valvular Dysplasia 1	Inguinal hernia, Tricuspid regurgitation, Ventricular septal defect, Tricuspid stenosis, Left atr...	OMIM:212093
Spinocerebellar Ataxia Type 36	Skeletal muscle atrophy, Tongue atrophy, Tongue fasciculations	ORPHA:276198
Generalized Pustular Psoriasis	Congestive heart failure, Cheilitis, Pedal edema, Arthritis, Geographic tongue	ORPHA:247353
Combined Pituitary Hormone Deficiencies, Genetic Forms	Osteopenia, Delayed skeletal maturation, Polydactyly, Hypotension, Osteoporosis of vertebrae, Abn...	ORPHA:95494
Heterotaxy, Visceral, 5, Autosomal	Atrial reentry tachycardia, Absence of the sacrum, Right atrial isomerism, Ventricular septal def...	OMIM:270100
Hereditary Mucoepithelial Dysplasia	Tracheoesophageal fistula, Gingival overgrowth, Furrowed tongue	ORPHA:1839
46,Xx Sex Reversal With Dysgenesis Of Kidneys, Adrenals, And Lungs	Ventricular septal defect, Congenital diaphragmatic hernia, Cleft lip, Cleft palate, Oligohydramnios	OMIM:611812
Hardikar Syndrome	Ventricular septal defect, Cleft soft palate, Intestinal malrotation, Portal hypertension, Celiac...	OMIM:301068
Angelman Syndrome Due To Paternal Uniparental Disomy Of Chromosome 15	Wide mouth, Widely spaced teeth, Mandibular prognathia, Protruding tongue	ORPHA:98795
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Severe Form	Distal lower limb amyotrophy, Scarring, Craniosynostosis, Oral mucosal blisters, Atrophic scars, ...	ORPHA:79396
Icf Syndrome	Malabsorption, Micrognathia, Protruding tongue, Macroglossia, Umbilical hernia	ORPHA:2268
Aspartylglucosaminuria	Joint laxity, Delayed skeletal maturation, Thick lower lip vermilion, Hypoplastic frontal sinuses...	OMIM:208400
Sotos Syndrome	Accelerated skeletal maturation, No permanent dentition, Flexion contracture, Pedal edema, Atrial...	ORPHA:821
Psoriasis 14, Pustular	Oligoarthritis, Polyarticular arthritis, Geographic tongue, Furrowed tongue	OMIM:614204
Alzahrani-Kuwahara Syndrome	Frontal bossing, Ventricular septal defect, Coronary sinus enlargement, Micrognathia, Narrow phil...	OMIM:619268
Plummer-Vinson Syndrome	Tongue atrophy, Intra-oral hyperpigmentation, Cheilitis, Esophageal web, Narrow mouth, Glossitis	ORPHA:54028
Criss-Cross Heart	Ventricular septal defect, Tricuspid stenosis, Transposition of the great arteries, Pulmonic sten...	ORPHA:1461
Distichiasis With Congenital Anomalies Of The Heart And Peripheral Vasculature	Ventricular septal defect, Pedal edema, Sinus bradycardia	OMIM:126320
17Q11 Microdeletion Syndrome	Osteopenia, Telangiectasia of the skin, Rhabdomyosarcoma, Bowing of the legs, Gastrointestinal st...	ORPHA:97685
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome	11 pairs of ribs, Esophageal atresia, Ventricular septal defect, Tracheoesophageal fistula	ORPHA:77298
Craniofacial Microsomia 1	Ventricular septal defect, Block vertebrae, Hypoplasia of facial musculature, Cleft upper lip, Mi...	OMIM:164210
Noonan Syndrome 9	Ventricular septal defect, Pulmonic stenosis	OMIM:616559
Cleft Palate With Or Without Ankyloglossia, X-Linked	Ankyloglossia, Bifid uvula, Cleft palate	OMIM:303400
Heart Defects, Congenital, And Other Congenital Anomalies	Atrial septal defect, Hypoplastic tricuspid valve, Double outlet left ventricle, Ventricular sept...	OMIM:600001
Syndromic Diarrhea	Aortic regurgitation, Villous atrophy, Inguinal hernia, Bicuspid aortic valve, Gastritis, Ventric...	ORPHA:84064
Holoprosencephaly 14	Frontal bossing, Median cleft lip, Ventricular septal defect, Proboscis, Cleft lip, Aortic valve ...	OMIM:619895
Meacham Syndrome	Ventricular septal defect, Congenital diaphragmatic hernia, Situs inversus totalis, Abnormality o...	ORPHA:3097
Microsporidiosis	Myositis, Osteomyelitis, Sinusitis, Abnormality of the spleen, Myocarditis, Lymphadenitis, Endoca...	ORPHA:2552
Alagille Syndrome 1	Hypoplasia of the ulna, Frontal bossing, Ventricular septal defect, Atrial septal defect, Tetralo...	OMIM:118450
Brain-Lung-Thyroid Syndrome	Ventricular septal defect, Abnormal cardiac septum morphology, Hypodontia, Atrial septal defect, ...	ORPHA:209905
Developmental Delay With Or Without Intellectual Impairment Or Behavioral Abnormalities	Pes planus, Ventricular septal defect, High, narrow palate, Hematochezia, Short philtrum, Joint h...	OMIM:619575
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome	Osteopenia, Joint laxity, Uterine prolapse, Bicuspid aortic valve, Ventricular septal defect, Dee...	ORPHA:438213
Angelman Syndrome	Mandibular prognathia, Flat occiput, Protruding tongue, Wide mouth, Widely spaced teeth, Pes valgus	ORPHA:72
Ectodermal Dysplasia-Skin Fragility Syndrome	Chapped lip, Abnormal dental morphology, Scarring, Abnormality of the dentition, Carious teeth, A...	ORPHA:158668
Multiple Endocrine Neoplasia Type 2	Joint laxity, Reduced subcutaneous adipose tissue, Aganglionic megacolon, Abnormal tongue morphol...	ORPHA:653
Aortic Valve Disease 1	Bicuspid aortic valve, Mitral atresia, Ventricular septal defect, Aortic valve calcification, Dou...	OMIM:109730
Digeorge Syndrome	Inguinal hernia, Ventricular septal defect, Femoral hernia, Micrognathia, High, narrow palate, Sp...	OMIM:188400
Hartnup Disease	Glossitis, Gingivitis, Malabsorption	ORPHA:2116
Congenital Tracheomalacia	Ventricular septal defect, Tracheomalacia, Cardiomegaly, Esophageal atresia, Partial anomalous pu...	ORPHA:95430
Lissencephaly 9 With Complex Brainstem Malformation	Ventricular septal defect	OMIM:618325
Neurodevelopmental Disorder With Language Delay And Seizures	Ventricular septal defect	OMIM:619908
Pachyonychia Congenita 3	Chapped lip, Plantar hyperkeratosis, Gingivitis, Furrowed tongue, Palmoplantar keratoderma, Palma...	OMIM:615726
Atrial Septal Defect 1	Tetralogy of Fallot with pulmonary atresia, Bicuspid aortic valve, Ventricular septal defect, Sec...	OMIM:108800
Pancreatic Hypoplasia-Diabetes-Congenital Heart Disease Syndrome	Double outlet left ventricle, Ventricular septal defect, Intestinal malrotation, Congenital diaph...	ORPHA:2255
Leigh Syndrome	Skeletal muscle atrophy, Multiple joint contractures, Ventricular septal defect, Congestive heart...	ORPHA:506
Abnormal Origin Of Right Or Left Pulmonary Artery From The Aorta	Left-to-right shunt, Ventricular septal defect, Congestive heart failure, Left ventricular outflo...	ORPHA:99050
Liver Disease, Severe Congenital	Joint laxity, Chronic gastritis, Inguinal hernia, Ventricular septal defect, Left atrial enlargem...	OMIM:619991
Proboscis Lateralis	Aplasia/Hypoplasia of the maxilla, Ventricular septal defect, Proboscis, Abnormal paranasal sinus...	ORPHA:141099
Cutis Laxa, Autosomal Dominant 1	Aortic regurgitation, Inguinal hernia, Ventricular septal defect, Congestive heart failure, Mitra...	OMIM:123700
Congenital Disorder Of Glycosylation, Type Iiw	Pes planus, Inguinal hernia, Ventricular septal defect, Micrognathia, Splenomegaly, Supernumerary...	OMIM:619525
Acrodermatitis Enteropathica	Malabsorption, Cheilitis, Abnormality of the tongue, Furrowed tongue, Glossitis	ORPHA:37
Hereditary Folate Malabsorption	Skeletal muscle atrophy, Glossitis, Cheilitis	ORPHA:90045
Transketolase Deficiency	Atrial septal defect, Ventricular septal defect, Patent foramen ovale, Abnormal heart morphology	ORPHA:488618
Microphthalmia, Syndromic 3	Vertebral fusion, Frontal bossing, Ventricular septal defect, Missing ribs, Esophageal atresia, V...	OMIM:206900
Encephalocraniocutaneous Lipomatosis	Ventricular septal defect, Lipoma, Subvalvular aortic stenosis, Atrial septal defect, Multiple ce...	OMIM:613001
Choreoathetosis And Congenital Hypothyroidism With Or Without Pulmonary Dysfunction	Atrial septal defect, Ventricular septal defect	OMIM:610978
Imerslund-Gräsbeck Syndrome	Tachycardia, Glossitis, Angular cheilitis	ORPHA:35858
Penile Agenesis	Ventricular septal defect, Rectal fistula, Tracheoesophageal fistula, Bilateral talipes equinovar...	ORPHA:49
Bilateral Perisylvian Polymicrogyria	Micrognathia, Protruding tongue, Flexion contracture, Abnormality of masticatory muscle, Facial d...	ORPHA:98889
Developmental And Epileptic Encephalopathy 31B	Gingival overgrowth, Protruding tongue	OMIM:620352
Ankyloglossia With Or Without Tooth Anomalies	Supernumerary tooth, Ankyloglossia	OMIM:106280
Neurodevelopmental Disorder With Seizures, Microcephaly, And Brain Abnormalities	Ventricular septal defect, Coronary artery fistula, Neonatal death, Metopic synostosis, Atrial se...	OMIM:620024
Combined Immunodeficiency-Enteropathy Spectrum	Omphalocele, Ventricular septal defect, Intestinal malrotation, Polyhydramnios, Jejunoileal ulcer...	ORPHA:436252
Heterotaxy, Visceral, 12, Autosomal	Ventricular septal defect, Dextrocardia, Situs inversus totalis, Common atrium, Complete atrioven...	OMIM:619702
Heterotaxy, Visceral, 8, Autosomal	Atrial situs inversus, Atrial situs ambiguous, Ventricular septal defect, Dextrocardia, Hypoplast...	OMIM:617205
Mowat-Wilson Syndrome	Delayed eruption of teeth, Aganglionic megacolon, Ventricular septal defect, Pyloric stenosis, Su...	OMIM:235730
Hypoplastic Left Heart Syndrome 2	Aortic valve atresia, Hypoplastic left heart, Ventricular septal defect, Mitral atresia	OMIM:614435
Autosomal Dominant Coarctation Of Aorta	Hypoplastic left heart, Ventricular septal defect	ORPHA:1455
Choreoacanthocytosis	Temporomandibular joint crepitus, Equinovarus deformity, Protruding tongue, Peroneal muscle atrop...	ORPHA:2388
Diamond-Blackfan Anemia 5	Ventricular septal defect	OMIM:612528
Intellectual Developmental Disorder With Hypotonia And Behavioral Abnormalities	Rectoperineal fistula, Ventricular septal defect, Anteriorly placed anus, Hypoplastic left heart,...	OMIM:618748
Ataxia, Intention Tremor, And Hypotonia Syndrome, Childhood-Onset	Ankyloglossia	OMIM:619352
X-Linked Dystonia-Parkinsonism	Protruding tongue	ORPHA:53351
Ciliary Dyskinesia, Primary, 20	Atrial situs inversus, Ventricular septal defect, Dextrocardia, Situs inversus totalis, Double ou...	OMIM:615067
Congenital Tracheal Stenosis	Ventricular septal defect, Polyhydramnios, Abnormal stomach morphology, Fetal ascites, Tracheoeso...	ORPHA:141127
Glucagonoma	Gastrointestinal hemorrhage, Intestinal obstruction, Steatorrhea, Stomatitis, Ascites, Glossitis,...	ORPHA:97280
Congenital Total Pulmonary Venous Return Anomaly	Tachycardia, Tricuspid regurgitation, Atrial situs ambiguous, Ventricular septal defect, Dextroca...	ORPHA:99125
Orotic Aciduria	Atrial septal defect, Ventricular septal defect	OMIM:258900
Carney Complex	Dorsocervical fat pad, Neoplasm of the stomach, Esophageal neoplasm, Congestive heart failure, Ca...	ORPHA:1359
Right Pulmonary Artery, Anomalous Origin Of, Familial	Patent foramen ovale, Ventricular septal defect	OMIM:610338
Phace Association	Ventricular septal defect	OMIM:606519

Histopathology

Summary table of phenotypes displayed during the Histopathology procedure which are considered significant. Full histopathology data table, including submitted images, can be accessed by clicking any row in this table.

There is no histopathology data for Cyp51

IMPC related publications

The table below lists publications which used either products generated by the IMPC or data produced by the phenotyping efforts of the IMPC. These publications have also been associated to Cyp51.

No publications found that use IMPC mice or data for Cyp51.

Order Mouse and ES Cells

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MGI Allele	Allele Type	Produced
Cyp51^{tm1a(EUCOMM)Wtsi}	KO first allele (reporter-tagged insertion with conditional potential)	Targeting vectors, ES Cells

Sequence

Guides

Sequence	Guide sequence	pam	chr	start	stop	strand	Genome build	gRNA Concentration	Truncated Guide	Reversed	Sanger service	Guide format	Guide source

Nucleases

Nuclease type	Nuclease class

Genotype primers

Sequence	Name

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