Not currently registered for phenotyping at IMPC

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

Gene Summary

Name:
SRY (sex determining region Y)-box 9
Synonyms:
2010306G03Rik

IMPC Data Collections

  • No Body Weight Data
  • No Embryo Imaging Data
  • No Viability Data

IMPC Phenotype Summary

Significant
Not Significant
Not tested

Phenotypes

The IMPC applies a panel of phenotyping screens to characterise single-gene knockout mice by comparison to wild types. Click on the different tabs to visualise significant phenotypes identified by the IMPC, as well as all data that was measured.

lacZ Expression

Expression data not available

Associated Images

Images submitted by IMPC centres for a selection of procedures. Each set of images is available to view in our image comparator.

Phenotype associated images not available

Human diseases caused by Sox9 mutations

The analysis uses data from IMPC, along with published data on other mouse mutants, in comparison to human disease reports in OMIM, Orphanet, and DECIPHER.

Phenotype comparisons summarize the similarity of mouse phenotypes with human disease phenotypes.

The table below shows human diseases predicted to be associated to Sox9 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Multiple Epiphyseal Dysplasia Type 4
Scoliosis, Short metatarsal, Ulnar deviation of the hand, Acetabular dysplasia, Joint stiffness, ... ORPHA:93307
Schneckenbecken Dysplasia
Anterior rib cupping, Lateral clavicle hook, Advanced tarsal ossification, Stillbirth, Metaphysea... OMIM:269250
Multiple Epiphyseal Dysplasia, Lowry Type
Scoliosis, Genu valgum, Abnormal bone ossification, Broad nasal tip, Elbow dislocation, Rhizomeli... ORPHA:166016
Spondyloepimetaphyseal Dysplasia, Missouri Type
Radial bowing, Limited elbow extension, Pear-shaped vertebrae, Platyspondyly, Flared iliac wing, ... OMIM:602111
Platyspondylic Dysplasia, Torrance Type
Platyspondyly, Short thorax, Narrow chest, Hypoplastic pelvis, Hypoplastic scapulae, Bowing of th... ORPHA:85166
Cleidocranial Dysplasia
Open bite, Scoliosis, Carious teeth, Abnormal dental enamel morphology, Sleep apnea, Wormian bone... ORPHA:1452
Fibrochondrogenesis 1
Narrow mouth, Camptodactyly, Hypoplastic ischia, Narrow greater sciatic notch, Thin clavicles, De... OMIM:228520
Dysosteosclerosis
Oligodontia, Delayed closure of the anterior fontanelle, Narrow chest, Natal tooth, Increased sus... OMIM:224300
Léri-Weill Dyschondrosteosis
Limited wrist movement, Abnormality of tibia morphology, Dorsal subluxation of ulna, Elbow disloc... ORPHA:240
Otopalatodigital Syndrome, Type Ii
Wormian bones, Nonossified fifth metatarsal, Delayed closure of the anterior fontanelle, Broad th... OMIM:304120
Thanatophoric Dysplasia, Type Ii
Platyspondyly, Metaphyseal irregularity, Narrow chest, Hypoplastic ilia, Short greater sciatic no... OMIM:187601
Microcephalic Osteodysplastic Primordial Dwarfism, Type Ii
Enamel hypoplasia, Narrow chest, Short distal phalanx of finger, Ulnar bowing, Thin clavicles, Na... OMIM:210720
Trigonobrachycephaly, Bulbous Bifid Nose, Micrognathia, And Abnormalities Of The Hands And Feet
Bulbous nose, Trigonocephaly, Brachycephaly, Bifid nasal tip, Bifid nose, Micrognathia, Prominent... OMIM:275595
Van Den Ende-Gupta Syndrome
Distal ulnar hypoplasia, Craniosynostosis, Underdeveloped nasal alae, Dental crowding, High palat... OMIM:600920
Atelosteogenesis, Type Iii
Widened distal phalanges, Radial bowing, Scoliosis, Cervical segmentation defect, Elbow dislocati... OMIM:108721
Ulnar Hemimelia
Scoliosis, Radial club hand, Short forearm, Limited shoulder movement, Duplication of phalanx of ... ORPHA:93320
Dyggve-Melchior-Clausen Disease
Scoliosis, Short metatarsal, Shield chest, Carpal bone hypoplasia, Camptodactyly, Mandibular prog... OMIM:223800
Atelosteogenesis, Type I
Short metatarsal, Narrow chest, Elbow dislocation, Thoracic platyspondyly, Multinucleated giant c... OMIM:108720
Thanatophoric Dysplasia, Type I
Metaphyseal irregularity, Narrow chest, Hypoplastic ilia, Short greater sciatic notch, Bowing of ... OMIM:187600
Spondylometaphyseal Dysplasia With Cone-Rod Dystrophy
Scoliosis, Platyspondyly, Metaphyseal irregularity, Hypoplastic inferior ilia, Short finger, Rhiz... OMIM:608940
Autosomal Dominant Myopia-Midfacial Retrusion-Sensorineural Hearing Loss-Rhizomelic Dysplasia Syndrome
Short femur, Narrow chest, Micrognathia, Rhizomelia, Hypoplastic scapulae, Dumbbell-shaped long b... ORPHA:440354
Achondrogenesis, Type Ia
Hypoplasia of the radius, Abnormal hand bone ossification, Short nose, Stillbirth, Protuberant ab... OMIM:200600
Short Stature, Auditory Canal Atresia, Mandibular Hypoplasia, And Skeletal Abnormalities
Dislocated radial head, Talipes equinovarus, Scapulohumeral synostosis, Narrow mouth, Feeding dif... OMIM:602471
Campomelic Dysplasia
Poorly ossified cervical vertebrae, Micrognathia, Femoral bowing, Depressed nasal bridge, Hypopla... OMIM:114290
Cardiomyopathy, Dilated, 1L
Dilated cardiomyopathy, Congestive heart failure, Reduced systolic function OMIM:606685
Cardiomyopathy, Dilated, 1I
Dilated cardiomyopathy, Congestive heart failure, Reduced systolic function OMIM:604765
Cardiomyopathy, Dilated, 1U
Dilated cardiomyopathy, Congestive heart failure, Syncope OMIM:613694
Cardiomyopathy, Dilated, 1V
Dilated cardiomyopathy, Congestive heart failure, Syncope OMIM:613697
Otospondylomegaepiphyseal Dysplasia
Abnormality of long bone morphology, Short phalanx of finger, Sandal gap, Micrognathia, Osteoarth... ORPHA:1427
Kyphomelic Dysplasia
Dumbbell-shaped humerus, Flat acetabular roof, Undulate ribs, Micrognathia, Ulnar bowing, Femoral... OMIM:211350
Pierre Robin Sequence With Pectus Excavatum And Rib And Scapular Anomalies
Joint hypermobility, Hypoplastic distal segments of scapulae, Pierre-Robin sequence, Pectus excav... OMIM:602196
Stuve-Wiedemann Syndrome
Pursed lips, Scoliosis, Abnormal dental enamel morphology, Short phalanx of finger, Respiratory i... OMIM:601559
Endocardial Fibroelastosis
Cryptorchidism, Congestive heart failure, Cardiomyopathy OMIM:226000
Smith-Mccort Dysplasia 1
Scoliosis, Genu valgum, Platyspondyly, Multicentric femoral head ossification, Prominent sternum,... OMIM:607326
Cleidocranial Dysplasia
Enamel hypoplasia, Scoliosis, Wormian bones, Narrow palate, Narrow chest, Hypoplastic frontal sin... OMIM:119600
Weismann-Netter Syndrome
Scoliosis, Squared iliac bones, Abnormality of tibia morphology, Abnormal form of the vertebral b... ORPHA:3344
Weismann-Netter Syndrome
Scoliosis, Squared iliac bones, Kyphosis, Anterior tibial bowing, Fibular bowing, Calvarial hyper... OMIM:112350
Acro-Renal-Mandibular Syndrome
Scoliosis, Split hand, Aplasia/Hypoplasia of the tongue, Hemivertebrae, Oral cleft, High palate, ... ORPHA:958
Osteogenesis Imperfecta, Type Iii
Scoliosis, Wormian bones, Protrusio acetabuli, Wide anterior fontanel, Biconcave vertebral bodies... OMIM:259420
Vitamin D Hydroxylation-Deficient Rickets, Type 1A
Bulging epiphyses, Enamel hypoplasia, Metaphyseal irregularity, Bulging of the costochondral junc... OMIM:264700
Leri-Weill Dyschondrosteosis
Scoliosis, Limited wrist movement, Dorsal subluxation of ulna, Abnormality of the metacarpal bone... OMIM:127300
Multiple Synostoses Syndrome 1
Fusion of midphalangeal joints, Tarsal synostosis, Underdeveloped nasal alae, Lower limb undergro... OMIM:186500
Short Rib-Polydactyly Syndrome
Abnormal ilium morphology, Abnormality of long bone morphology, Narrow chest, Polydactyly, Horizo... ORPHA:1505
Cardiomyopathy, Dilated, 1P
Ventricular arrhythmia, Congestive heart failure, Dilated cardiomyopathy, Reduced systolic function OMIM:609909
Vitamin D-Dependent Rickets, Type 2A
Bulging epiphyses, Enamel hypoplasia, Carious teeth, Metaphyseal irregularity, Bulging of the cos... OMIM:277440
Marshall Syndrome
Wide tufts of distal phalanges, Irregular distal femoral epiphysis, Micrognathia, Ulnar bowing, D... OMIM:154780
Cousin Syndrome
Camptodactyly, Hypoplastic ischia, Wrist flexion contracture, Alveolar ridge overgrowth, Microgna... OMIM:260660
Phocomelia-Ectrodactyly, Ear Malformation, Deafness, And Sinus Arrhythmia
Mesomelic arm shortening, Short 2nd metacarpal, Long philtrum, Lateral clavicle hook, Radioulnar ... OMIM:171480
Robin Sequence-Oligodactyly Syndrome
Abnormal form of the vertebral bodies, Micrognathia, Abnormality of the dentition, Abnormality of... ORPHA:3104
Growth Delay-Hydrocephaly-Lung Hypoplasia Syndrome
Radial bowing, Bowing of the long bones, Intestinal malrotation, Tibial bowing, Abnormally ossifi... ORPHA:3035
Multiple Osteochondromas
Radial bowing, Genu valgum, Scoliosis, Abnormality of tibia morphology, Osteolysis, Anteverted na... ORPHA:321
Metaphyseal Acroscyphodysplasia
Irregular phalanges, Scoliosis, Craniosynostosis, Short phalanx of finger, Cone-shaped epiphyses ... OMIM:250215
Campomelic Dysplasia
Scoliosis, Poorly ossified cervical vertebrae, Narrow chest, Respiratory insufficiency, Small abn... ORPHA:140
Cardiomyopathy, Dilated, 1Dd
Dilated cardiomyopathy, Sudden cardiac death, Congestive heart failure OMIM:613172
Pierre Robin Sequence With Facial And Digital Anomalies
Easily subluxated first metacarpophalangeal joints, Pierre-Robin sequence, Micrognathia, Short di... OMIM:311895
Ritscher-Schinzel Syndrome 3
Shortening of all distal phalanges of the fingers, Epiphyseal stippling, Wide anterior fontanel, ... OMIM:619135
Osteogenesis Imperfecta, Type Ii
Wormian bones, Platyspondyly, Broad long bones, Beaded ribs, Absent ossification of calvaria, Rec... OMIM:166210
Orofaciodigital Syndrome Iii
Postaxial hand polydactyly, Bulbous nose, Tongue nodules, Pectus excavatum, Short sternum, Kyphos... OMIM:258850
Fibrochondrogenesis
Camptodactyly of finger, Abnormality of the ribs, Broad ribs, Wide anterior fontanel, Narrow mout... ORPHA:2021
Vitamin D Hydroxylation-Deficient Rickets, Type 1B
Bulging epiphyses, Enlargement of the ankles, Metaphyseal irregularity, Sparse bone trabeculae, R... OMIM:600081
Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly
Narrow chest, Polydactyly, Postaxial polydactyly, Short distal phalanx of finger, Flat acetabular... OMIM:614091
Shox-Related Short Stature
Scoliosis, Genu valgum, Cubitus valgus, Ulnar radial head dislocation, Madelung deformity, Tibial... ORPHA:314795
Ophthalmomandibulomelic Dysplasia
Radial bowing, Decreased mobility 3rd-5th fingers, Temporomandibular joint ankylosis, Lateral hum... OMIM:164900
Mesomelic Limb Shortening And Bowing
Mesomelic arm shortening, Camptodactyly of finger, Bowing of the legs, Cleft palate, Retrognathia... OMIM:249710
Spondyloepimetaphyseal Dysplasia, Missouri Type
Metaphyseal irregularity, Tibial bowing, Flared metaphysis, Flattened epiphysis, Genu varum, Shor... ORPHA:93356
Acromesomelic Dysplasia, Hunter-Thompson Type
Radial bowing, Hypoplasia of the radius, Elbow dislocation, Abnormally shaped carpal bones, Hypop... OMIM:201250
Langer Mesomelic Dysplasia
Radial bowing, Hypoplasia of the radius, Rudimentary fibula, Madelung deformity, Hypoplasia of th... OMIM:249700
Vitamin D-Dependent Rickets, Type 2B, With Normal Vitamin D Receptor
Bulging epiphyses, Genu valgum, Generalized bone demineralization, Metaphyseal irregularity, Spar... OMIM:600785
Antley-Bixler Syndrome Without Genital Anomalies Or Disordered Steroidogenesis
Rocker bottom foot, Humeroradial synostosis, Long philtrum, Wide anterior fontanel, Lambdoidal cr... OMIM:207410
Cortical Blindness, Retardation, And Postaxial Polydactyly
Microretrognathia, Short nose, Frontal bossing OMIM:218010
Fibular Hemimelia
Hip subluxation, Craniosynostosis, Joint laxity, Structural foot deformity, Bowing of the legs, J... ORPHA:93323
Cardiomyopathy, Dilated, 1J
Sudden cardiac death, Congestive heart failure, Abnormal left ventricular function, Dilated cardi... OMIM:605362
Tarp Syndrome
Deep palmar crease, Hypoplasia of the radius, Talipes equinovarus, Anteverted nares, Tongue nodul... OMIM:311900
Sternum, Premature Obliteration Of Sutures Of
Micrognathia, Short sternum, Premature sternal synostosis OMIM:184800
Microphthalmia With Limb Anomalies
Talipes equinovarus, Postaxial hand polydactyly, Toe syndactyly, Fused fourth and fifth metacarpa... OMIM:206920
Postaxial Oligodactyly, Tetramelic
Radial bowing, Postaxial hand polydactyly, Cone-shaped epiphysis, Lunate-triquetral fusion, Posta... OMIM:176240
Hypophosphatemic Rickets, X-Linked Dominant
Metaphyseal irregularity, Flattening of the talar dome, Hypophosphatemic rickets, Tibial bowing, ... OMIM:307800
Adenylosuccinate Lyase Deficiency
Short nose, Flat occiput, Brachycephaly, Microcephaly, Anteverted nares, Prominent metopic ridge ORPHA:46
Cardiomyopathy, Dilated, 1Hh
Dilated cardiomyopathy, Congestive heart failure OMIM:613881
Cardiomyopathy, Dilated, 2A
Dilated cardiomyopathy, Congestive heart failure OMIM:611880
Odontochondrodysplasia
Scoliosis, Delayed eruption of teeth, Platyspondyly, Respiratory distress, Narrow chest, Square p... ORPHA:166272
Renal Dysplasia-Limb Defects Syndrome
Talipes equinovarus, Hypoplasia of the radius, Thin vermilion border, Narrow mouth, Respiratory d... OMIM:266910
Grant Syndrome
Wormian bones, Down-sloping shoulders, Micrognathia, Tibial bowing OMIM:138930
Osteoglophonic Dysplasia
Craniosynostosis, Short metatarsal, Short phalanx of finger, Mandibular prognathia, Increased sus... OMIM:166250
Marshall-Smith Syndrome
Scoliosis, Prominence of the premaxilla, Choanal atresia, Short distal phalanx of finger, Pulmona... OMIM:602535
Developmental Malformations-Deafness-Dystonia Syndrome
Scoliosis, Macroglossia, Dysphagia, Hypoplastic scapulae, Kyphosis, Achalasia, Oral cleft, Extern... ORPHA:79107
Pelviscapular Dysplasia
Humeroradial synostosis, Short femur, Congenital hip dislocation, Hypoplastic scapulae, Hypoplast... ORPHA:93333
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 1, With Or Without Fractures
Large iliac wing, Hip subluxation, Joint laxity, Flared iliac wing, Pes planus, Ovoid vertebral b... OMIM:271640
Odontochondrodysplasia 1
Scoliosis, Joint hypermobility, Short phalanx of finger, Narrow chest, Flared iliac wing, Death i... OMIM:184260
Hydrocephalus With Associated Malformations
Intestinal malrotation, Tibial bowing, Lower limb undergrowth, Pulmonary hypoplasia, Short lower ... OMIM:236640
Melnick-Needles Syndrome
Narrow chest, Pes planus, Short distal phalanx of finger, Short clavicles, Pulmonary arterial hyp... OMIM:309350
Phocomelia-Ectrodactyly-Deafness-Sinus Arrhythmia Syndrome
Radial club hand, Long philtrum, Abnormality of dental morphology, Upper limb phocomelia, Deep ph... ORPHA:2878
Fibular Aplasia Or Hypoplasia, Femoral Bowing And Poly-, Syn-, And Oligodactyly
Aplasia/Hypoplasia of the 5th finger, Congenital hip dislocation, Femoral bowing, Aplasia/Hypopla... OMIM:228930
Pelvis-Shoulder Dysplasia
Congenital hip dislocation, Hypoplastic scapulae, Hypoplastic ilia, Lumbar hyperlordosis, Short c... OMIM:169550
Hypocalcemic Vitamin D-Dependent Rickets
Enamel hypoplasia, Delayed eruption of teeth, Enlargement of the ankles, Subperiosteal bone resor... ORPHA:289157
Dystonia, Juvenile-Onset
Hypoplastic scapulae, Achalasia, Externally rotated hips, Cleft upper lip, Cleft palate, Kyphosco... OMIM:607371
Catel-Manzke Syndrome
Scoliosis, Camptodactyly of finger, Abnormality of epiphysis morphology, Micrognathia, Joint hype... ORPHA:1388
Cardiac Lipidosis, Familial
Congestive heart failure, Cardiomyopathy OMIM:212080
Crane-Heise Syndrome
Toe syndactyly, Finger syndactyly, Hypoplastic scapulae, Short distal phalanx of finger, Abnormal... ORPHA:1512
Sensorineural Deafness With Dilated Cardiomyopathy
Dilated cardiomyopathy, Abnormal cardiac ventricular function, Congestive heart failure ORPHA:217622
Metaphyseal Chondrodysplasia, Spahr Type
Hip dysplasia, Scoliosis, Carious teeth, Metaphyseal chondrodysplasia, Hyperlordosis, Abnormality... ORPHA:2501
Cardiomyopathy, Familial Hypertrophic, 15
Congestive heart failure, Hypertrophic cardiomyopathy OMIM:613255
Hypophosphatemic Rickets With Hypercalciuria, Hereditary
Bulging epiphyses, Enlargement of the ankles, Metaphyseal irregularity, Sparse bone trabeculae, R... OMIM:241530
Pallister W Syndrome
Radial bowing, Cubitus valgus, Agenesis of central incisor, Broad nasal tip, Pes planus, Camptoda... OMIM:311450
Peroxisome Biogenesis Disorder 10A (Zellweger)
Epiphyseal stippling, Feeding difficulties, Death in infancy, High palate, Micrognathia, Prominen... OMIM:614882
W Syndrome
Radial bowing, Cubitus valgus, Elbow dislocation, Pes planus, Camptodactyly, Agenesis of maxillar... ORPHA:2804
Osteopathia Striata-Pigmentary Dermopathy-White Forelock Syndrome
Coarse metaphyseal trabecularization, Osteopathia striata, Abnormal diaphysis morphology, Abnorma... ORPHA:2779
Cardiomyopathy, Dilated, 1B
Ventricular arrhythmia, Impaired myocardial contractility, Congestive heart failure, Dilated card... OMIM:600884
Lethal Recessive Chondrodysplasia
Macroglossia, Respiratory distress, Narrow chest, Flared elbow metaphyses, Generalized osteoscler... ORPHA:1423
Blount Disease
Abnormality of the knee, Abnormality of the proximal tibial epiphysis, Tibial bowing, Abnormality... ORPHA:2768
Satb2-Associated Syndrome Due To A Chromosomal Rearrangement
Broad thumb, Narrow mouth, Dental crowding, Nasogastric tube feeding in infancy, Increased suscep... ORPHA:251028
Momo Syndrome
Delayed eruption of teeth, Long philtrum, Abnormal bone ossification, Taurodontia, Long foot, Sho... ORPHA:2563
Osteogenesis Imperfecta, Type Viii
Scoliosis, Wormian bones, Joint laxity, Multiple prenatal fractures, Barrel-shaped chest, Type 1 ... OMIM:610915
Metaphyseal Chondrodysplasia, Schmid Type
Irregular acetabular roof, Platyspondyly, Metaphyseal chondrodysplasia, Short middle phalanx of f... OMIM:156500
Bowen-Conradi Syndrome
Rocker bottom foot, Camptodactyly of finger, Micrognathia, Death in infancy, Oral cleft, Joint st... ORPHA:1270
Spondyloepiphyseal Dysplasia With Congenital Joint Dislocations
Scoliosis, Generalized bone demineralization, Short phalanx of finger, Shield chest, Elbow disloc... OMIM:143095
Brachymesomelia-Renal Syndrome
Mesomelic arm shortening, Hypoplasia of the radius, Micrognathia, Fibular hypoplasia, Ulnar bowin... OMIM:113470
Schneckenbecken Dysplasia
Lateral clavicle hook, Advanced tarsal ossification, Narrow chest, Abnormal form of the vertebral... ORPHA:3144
Metaphyseal Anadysplasia 2
Metaphyseal widening, Short femoral neck, Bowing of the legs, Metaphyseal irregularity OMIM:613073
Perching Syndrome
Respiratory distress, Feeding difficulties, Dysphagia, Camptodactyly, Flexion contracture, High p... OMIM:617055
Short-Rib Thoracic Dysplasia 12
Narrow chest, Natal tooth, Horizontal ribs, Intestinal malrotation, Hamartoma of tongue, Respirat... OMIM:269860
Mucolipidosis Ii Alpha/Beta
Flared iliac wing, Split hand, Carpal bone hypoplasia, Ovoid vertebral bodies, Beaking of vertebr... OMIM:252500
Atelosteogenesis, Type Ii
Scoliosis, Hitchhiker thumb, Short greater sciatic notch, Death in infancy, Respiratory insuffici... OMIM:256050
Kniest-Like Dysplasia With Pursed Lips And Ectopia Lentis
Pursed lips, Platyspondyly, Narrow mouth, Pectus carinatum, Deep philtrum, Flexion contracture, A... OMIM:245160
Osteodysplasty, Precocious, Of Danks, Mayne, And Kozlowski
Abnormality of long bone morphology, Short finger, Short toe, Abnormality of pelvic girdle bone m... OMIM:259270
Congenital Radioulnar Synostosis
Dislocated radial head, Abnormal morphology of the radius, Radioulnar synostosis, Congenital hip ... ORPHA:3269
Phocomelia, Schinzel Type
Radial bowing, Hypoplasia of the radius, Abnormality of tibia morphology, Humeroradial synostosis... ORPHA:2879
Congenital Insensitivity To Pain With Severe Intellectual Disability
Rocker bottom foot, Nasogastric tube feeding in infancy, Recurrent fractures, Limb undergrowth, T... ORPHA:453510
Blount Disease, Adolescent
Bowing of the legs, Osteochondritis Dissecans, Genu varum OMIM:259200
Orofaciodigital Syndrome Type 3
Postaxial hand polydactyly, Bulbous nose, Thoracic kyphosis, Pectus excavatum, Short sternum, Ham... ORPHA:2752
Congenital Hemidysplasia With Ichthyosiform Erythroderma And Limb Defects
Vertebral hypoplasia, Scoliosis, Epiphyseal stippling, Congenital hip dislocation, Stillbirth, Hy... OMIM:308050
Ulnar Hypoplasia
Radial bowing, Distal ulnar hypoplasia, Hypoplasia of the radius, Radial dysplasia, Mesomelic arm... OMIM:191440
Short Stature, Amelogenesis Imperfecta, And Skeletal Dysplasia With Scoliosis
Scoliosis, Carious teeth, Pes planus, Small epiphyses, High palate, Short femoral neck, Advanced ... OMIM:618363
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14
Scoliosis, Wormian bones, Absent glenoid fossa, Epiphyseal stippling, Narrow mouth, Narrow chest,... ORPHA:96334
Arthrogryposis, Distal, Type 7
Cutaneous syndactyly of toes, Arthrogryposis multiplex congenita, Feeding difficulties, Micrognat... OMIM:158300
Acrorenal-Mandibular Syndrome
Narrow palate, Narrow chest, Split hand, Hemivertebrae, High palate, Elbow flexion contracture, M... OMIM:200980
Tibial Torsion, Bilateral Medial
Scoliosis, Abnormality of tibia morphology, Bowing of the legs, Tibial torsion OMIM:188800
Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 1
Radial bowing, Ulnar bowing, Syndactyly, Proximal radio-ulnar synostosis, Hip dislocation, Clinod... OMIM:605432
Pelvis-Shoulder Dysplasia
Hypoplastic ischia, Acetabular dysplasia, Micrognathia, Fifth finger distal phalanx clinodactyly,... ORPHA:2839
Osteosclerosis-Developmental Delay-Craniosynostosis Syndrome
Craniosynostosis, Thickened calvaria, Broad jaw, Brachycephaly, Macrocephaly ORPHA:178377
Baller-Gerold Syndrome
Scoliosis, Narrow mouth, Lambdoidal craniosynostosis, Underdeveloped nasal alae, Aphalangy of the... OMIM:218600
Hypochondroplasia
Limited elbow extension, Aplasia/hypoplasia of the extremities, Malar flattening, Lumbar hyperlor... OMIM:146000
Cartilage-Hair Hypoplasia
Scoliosis, Narrow chest, Respiratory insufficiency, Abnormality of the ribs, Abnormality of the m... ORPHA:175
Acromesomelic Dysplasia, Maroteaux Type
Short metatarsal, Short phalanx of finger, Joint laxity, Ovoid vertebral bodies, Cone-shaped epip... OMIM:602875
Momo Syndrome
Delayed eruption of teeth, Long philtrum, Taurodontia, Long foot, Short sternum, Smooth philtrum,... OMIM:157980
Congenital Absence Of Upper Arm And Forearm With Hand Present
Abnormal lung morphology, Stillbirth, Upper limb phocomelia, Polydactyly, Abnormal thorax morphol... ORPHA:294975
Leri-Weill dyschondrostosis (LWD) - SHOX deletion
Radial bowing, Madelung deformity, Limited pronation/supination of forearm DECIPHER:58
Caffey Disease
Periosteal thickening of long tubular bones, Tibial bowing, Bowing of the legs, Cortical irregula... OMIM:114000
Tarp Syndrome
Scoliosis, Tongue nodules, Postaxial polydactyly, Alveolar ridge overgrowth, Micrognathia, Hypopl... ORPHA:2886
Pycnodysostosis
Osteolytic defects of the distal phalanges of the hand, Scoliosis, Delayed eruption of primary te... OMIM:265800
Dyschondrosteosis And Nephritis
Radial bowing, Short forearm, Madelung deformity, Short tibia, Ulnar bowing OMIM:127350
Microphthalmia With Limb Anomalies
Hypoplasia of the premaxilla, Thin vermilion border, Broad thumb, Tarsal synostosis, Elbow disloc... ORPHA:1106
Bowen-Conradi Syndrome
Rocker bottom foot, Abnormal joint morphology, Clinodactyly of the 5th finger, Micrognathia, Prom... OMIM:211180
Humerofemoral Hypoplasia With Radiotibial Ray Deficiency
Hypoplastic pelvis, Hypoplastic scapulae, Bilateral talipes equinovarus, Absent thumb, Short clav... OMIM:618022
Non-Distal Trisomy 10Q
Convex nasal ridge, Short nose, Frontal bossing, Brachycephaly, Microcephaly, Micrognathia, Depre... ORPHA:1695
Dyschondrosteosis-Nephritis Syndrome
Radial bowing, Madelung deformity, Aplasia/Hypoplasia of the radius, Microdontia, Ulnar bowing, M... ORPHA:1765
Short-Rib Thoracic Dysplasia 16 With Or Without Polydactyly
Carious teeth, Short thorax, Short metatarsal, Short phalanx of finger, Respiratory distress, Nar... OMIM:617102
Arthrogryposis, Distal, Type 1C
Pursed lips, Scoliosis, Thin vermilion border, Narrow mouth, Wrist flexion contracture, Metacarpo... OMIM:619110
Metaphyseal Dysplasia, Spahr Type
Genu valgum, Metaphyseal sclerosis, Metaphyseal chondrodysplasia, Metaphyseal dysplasia, Short lo... OMIM:250400
Metaphyseal Anadysplasia
Abnormality of epiphysis morphology, Bowing of the long bones, Aplasia/Hypoplasia of the radius, ... ORPHA:1040
Metaphyseal Chondrodysplasia, Schmid Type
Metaphyseal irregularity, Bowing of the legs, Femoral bowing, Hip dysplasia, Ulnar metaphyseal ir... ORPHA:174
Mueller-Weiss Syndrome
Chondritis, Fragmented, irregular epiphyses, Limitation of movement at ankles, Pes planus, Positi... ORPHA:566943
Kniest Dysplasia
Platyspondyly, Enlarged joints, Respiratory distress, Coronal cleft vertebrae, Hypoplastic pelvis... OMIM:156550
Geroderma Osteodysplasticum
Osteoporosis, Wormian bones, Platyspondyly, Biconcave vertebral bodies, Hypoplasia of the maxilla... OMIM:231070
Myopathy, Areflexia, Respiratory Distress, And Dysphagia, Early-Onset
Scoliosis, Camptodactyly of finger, Restrictive ventilatory defect, Respiratory distress, Dysphag... OMIM:614399
Grant Syndrome
Open bite, Wormian bones, Abnormality of the glenoid fossa, Narrow chest, Joint hyperflexibility,... ORPHA:2097
Spondylometaphyseal Dysplasia, East African Type
Metaphyseal widening, Ovoid vertebral bodies, Bell-shaped thorax, Short long bone, Coxa vara, Gen... OMIM:611702
Carvajal Syndrome
Dilated cardiomyopathy, Congestive heart failure ORPHA:65282
Kyphomelic Dysplasia
Anterior rib cupping, Lateral clavicle hook, Short thorax, Narrow chest, Abnormal form of the ver... ORPHA:1801
Congenital Disorder Of Glycosylation, Type Iy
Scoliosis, Respiratory distress, Feeding difficulties, Wide mouth, Clinodactyly, Joint dislocatio... OMIM:300934
Hypophosphatemic Rickets, X-Linked Recessive
Bulging epiphyses, Enlargement of the ankles, Metaphyseal irregularity, Sparse bone trabeculae, R... OMIM:300554
Spondyloepimetaphyseal Dysplasia, Strudwick Type
Anterior rib cupping, Genu valgum, Delayed pubic bone ossification, Club-shaped proximal femur, S... OMIM:184250
Pierre Robin Syndrome And Oligodactyly
Pierre-Robin sequence, Micrognathia, Hand oligodactyly, Cleft palate OMIM:172880
Turnpenny-Fry Syndrome
Narrow mouth, Narrow chest, Dental crowding, Mandibular prognathia, High palate, Thoracic kyphosc... OMIM:618371
Spondyloepimetaphyseal Dysplasia With Joint Laxity
Scoliosis, Joint laxity, Abnormality of the elbow, Increased susceptibility to fractures, Abnorma... ORPHA:93359
Cardiomyopathy, Familial Hypertrophic, 1
Asymmetric septal hypertrophy, Arrhythmia, Congestive heart failure OMIM:192600
X-Linked Intellectual Disability, Sutherland-Haan Type
Mandibular prognathia, Decreased body weight, Small for gestational age, Brachycephaly, Microceph... ORPHA:93950
Diaphanospondylodysostosis
Short thorax, Respiratory distress, Enlarged thorax, Absent or minimally ossified vertebral bodie... ORPHA:66637
Ulbright-Hodes Syndrome
Thin vermilion border, Narrow mouth, Phocomelia, Abnormality of the ribs, High palate, Micrognath... ORPHA:3404
Cardiomyopathy, Dilated, 2B
Dilated cardiomyopathy, Congestive heart failure, Atrial fibrillation OMIM:614672
Spondylometaphyseal Dysplasia, Corner Fracture Type
Scoliosis, Metaphyseal irregularity, Pectus carinatum, Ovoid vertebral bodies, Coxa vara, Hyperco... OMIM:184255
Long Qt Syndrome 13
Paroxysmal atrial fibrillation, Atrial fibrillation, Hypertension, Pulmonary embolism, Atrioventr... OMIM:613485
Developmental And Epileptic Encephalopathy 73
Short nose, Midface retrusion, Flexion contracture, Inguinal hernia, Failure to thrive, Microceph... OMIM:618379
Pyle Disease
Scoliosis, Genu valgum, Delayed eruption of teeth, Carious teeth, Limited elbow extension, Platys... OMIM:265900
Pyknoachondrogenesis
Aplastic pubic bones, Short thorax, Short iliac bones, Abnormality of mouth shape, Poorly ossifie... ORPHA:3003
Autosomal Dominant Otospondylomegaepiphyseal Dysplasia
Long philtrum, Pectus carinatum, Pectus excavatum, Abnormal metacarpal morphology, Glossoptosis, ... ORPHA:166100
Ulna And Fibula, Absence Of, With Severe Limb Deficiency
Aplastic pubic bones, Narrow palate, Split hand, Hemivertebrae, Phocomelia, High palate, Elbow fl... OMIM:276820
Spondyloepimetaphyseal Dysplasia, Shohat Type
Vertebral hypoplasia, Platyspondyly, Thin vermilion border, Joint laxity, Metaphyseal irregularit... OMIM:602557
Familial Progressive Cardiac Conduction Defect
Arrhythmia, Bundle branch block, Congestive heart failure, Heart block, Syncope ORPHA:871
Mesomelic Dwarfism-Cleft Palate-Camptodactyly Syndrome
Camptodactyly of finger, Thin vermilion border, Abnormality of epiphysis morphology, Elbow disloc... ORPHA:2631
Autosomal Recessive Hypophosphatemic Rickets
Craniosynostosis, Increased bone mineral density, Rickets of the lower limbs, Pseudo-fractures, T... ORPHA:289176
Left Ventricular Noncompaction 8
Arrhythmia, Abnormal left ventricular function, Congestive heart failure, Dilated cardiomyopathy,... OMIM:615373
Robin Sequence With Cleft Mandible And Limb Anomalies
Hip subluxation, Short phalanx of finger, Narrow mouth, Aplasia of the epiglottis, Acetabular dys... OMIM:268305
Neurogenic Arthrogryposis Multiplex Congenita
Scoliosis, Rocker bottom foot, Equinovarus deformity, Respiratory distress, Feeding difficulties,... ORPHA:1143
Imperforate Oropharynx-Costovertebral Anomalies Syndrome
Abnormality of the mouth, Dyspnea, Abnormality of the philtrum, Respiratory distress, Abnormal fo... ORPHA:2759
Upper Limb Mesomelic Dysplasia
Radial bowing, Hypoplasia of the ulna, Ulnar deviation of finger ORPHA:2497
Cornelia De Lange Syndrome 1
Downturned corners of mouth, Choanal atresia, Pneumonia, Phocomelia, High palate, High, narrow pa... OMIM:122470
Craniosynostosis, Calcification Of Basal Ganglia, And Facial Dysmorphism
Microcephaly, Craniosynostosis, Prominent nasal bridge, Hypoplasia of the maxilla OMIM:608432
Scarf Syndrome
Enamel hypoplasia, Long philtrum, Craniosynostosis, Abnormal form of the vertebral bodies, Pectus... ORPHA:3134
Arrhythmogenic Right Ventricular Dysplasia, Familial, 5
Palpitations, Prolonged QRS complex, Ventricular extrasystoles, Ventricular tachycardia, Sudden c... OMIM:604400
Osteosclerosis With Ichthyosis And Fractures
Recurrent fractures, Cortical thickening of long bone diaphyses, Increased bone mineral density, ... OMIM:166740
Satb2-Associated Syndrome Due To A Pathogenic Variant
Joint hypermobility, Broad thumb, High palate, Micrognathia, Long philtrum, Gastroesophageal refl... ORPHA:576283
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency
Scoliosis, Craniosynostosis, Tarsal synostosis, Narrow mouth, Narrow chest, Bulbous nose, Camptod... ORPHA:95699
Bartsocas-Papas Syndrome 1
Arthrogryposis multiplex congenita, Short phalanx of finger, Underdeveloped nasal alae, Absent ra... OMIM:263650
Ghosal Hematodiaphyseal Dysplasia
Abnormality of tibia morphology, Abnormal form of the vertebral bodies, Craniofacial hyperostosis... ORPHA:1802
Brachydactyly-Mesomelia-Intellectual Disability-Heart Defects Syndrome
Abnormal palate morphology, Mesomelia, Tooth agenesis, Long thorax, Abnormal shoulder morphology,... ORPHA:1277
Spondyloepimetaphyseal Dysplasia, Borochowitz-Cormier-Daire Type
Limited elbow extension, Platyspondyly, Thoracic hypoplasia, Irregular epiphyses, Ovoid vertebral... OMIM:608728
Epiphyseal Dysplasia, Multiple, 2
Irregular epiphyses, Epiphyseal dysplasia, Flattened epiphysis, Small epiphyses, Genu varum, Knee... OMIM:600204
Acrocapitofemoral Dysplasia
Scoliosis, Narrow chest, Flared iliac wing, Ovoid vertebral bodies, Short distal phalanx of finge... OMIM:607778
Moebius Syndrome
Arthrogryposis multiplex congenita, Short phalanx of finger, Split hand, Camptodactyly, Pes planu... OMIM:157900
Pierre Robin Syndrome
Pierre-Robin sequence, Neonatal respiratory distress, Upper airway obstruction, Glossoptosis, Cle... OMIM:261800
Intellectual Developmental Disorder, X-Linked, Syndromic, Wu Type
Macrocephaly, Brachycephaly, Slender build OMIM:300699
Pseudoachondroplasia
Scoliosis, Irregular carpal bones, Short phalanx of finger, Metaphyseal irregularity, Joint laxit... ORPHA:750
Epiphyseal Dysplasia, Multiple, With Severe Proximal Femoral Dysplasia
Flat distal femoral epiphysis, Genu valgum, Proximal femoral metaphyseal irregularity, Platyspond... OMIM:609324
Cardiomyopathy, Dilated, 1G
Premature atrial contractions, Reduced ejection fraction, Atrial fibrillation, Ventricular tachyc... OMIM:604145
17Q21.31 Microduplication Syndrome
Short nose, Malar flattening, Failure to thrive, Microcephaly, Micrognathia, Anteverted nares ORPHA:217340
Fibrochondrogenesis 2
Platyspondyly, Short nose, Anteverted nares, Protuberant abdomen, Thoracic hypoplasia, Hypoplasti... OMIM:614524
Spondyloepimetaphyseal Dysplasia Congenita, Strudwick Type
Platyspondyly, Carious teeth, Abnormal respiratory system physiology, Laryngotracheomalacia, Apla... ORPHA:93346
Intellectual Developmental Disorder With Nasal Speech, Dysmorphic Facies, And Variable Skeletal Anomalies
Scoliosis, Tooth malposition, Anteverted nares, Micrognathia, 2-3 toe syndactyly, Thin upper lip ... OMIM:618608
Cleidocranial Dysplasia, Recessive Form
Brachycephaly OMIM:216330
Cardiomyopathy, Dilated, 1R
Ventricular arrhythmia, Restrictive cardiomyopathy, Congestive heart failure, Dilated cardiomyopathy OMIM:613424
Aase-Smith Syndrome
Scoliosis, Camptodactyly of finger, Aplasia/Hypoplasia of the radius, Trismus, Multiple joint con... ORPHA:916
Spondylometaphyseal Dysplasia, Type A4
Platyspondyly, Metaphyseal sclerosis, Metaphyseal irregularity, Osteoporotic metatarsal, Pectus c... OMIM:609052
Scarf Syndrome
Enamel hypoplasia, Long philtrum, Lambdoidal craniosynostosis, Abnormal form of the vertebral bod... OMIM:312830
Schinzel-Giedion Midface Retraction Syndrome
Increased density of long bones, Wormian bones, Short distal phalanx of finger, Sclerosis of skul... OMIM:269150
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly
Long philtrum, Hypoplasia of the radius, Lateral clavicle hook, Respiratory distress, Narrow ches... OMIM:617895
Lethal Kniest-Like Dysplasia
Anterior rib cupping, Platyspondyly, Abnormal cartilage matrix, Wide anterior fontanel, Narrow ch... ORPHA:2347
Chondrodysplasia, Blomstrand Type
Squared iliac bones, Advanced tarsal ossification, Stillbirth, Generalized osteosclerosis, Short ... OMIM:215045
Nephrosis With Deafness And Urinary Tract And Digital Malformations
Partial duplication of the distal phalanx of the hallux, Bifid uvula, Short distal phalanx of the... OMIM:256200
Trochlea Of The Humerus, Aplasia Of
Short humerus, Cleft palate OMIM:191000
Lethal Osteosclerotic Bone Dysplasia
Mandibular aplasia, Short nose, Large fontanelles, Delayed cranial suture closure, Depressed nasa... ORPHA:1832
Achondrogenesis, Type Ii
Stillbirth, Broad long bones, Hypoplastic iliac wing, Horizontal ribs, Short ribs, Absent vertebr... OMIM:200610
Achondroplasia
Limited elbow extension, Limited hip extension, Generalized joint laxity, Trident hand, Rhizomeli... OMIM:100800
Nephrosis-Deafness-Urinary Tract-Digital Malformations Syndrome
Abnormal thumb morphology, Partial duplication of the distal phalanx of the hallux, Bifid distal ... ORPHA:2669
Cardiomyopathy, Dilated, 1C, With Or Without Left Ventricular Noncompaction
Ventricular arrhythmia, Sudden cardiac death, Congestive heart failure, Dilated cardiomyopathy OMIM:601493
Mental Retardation, X-Linked, With Craniofacial Dysmorphism
Brachycephaly, Frontal bossing, Plagiocephaly OMIM:300064
Incessant Infant Ventricular Tachycardia
Bundle branch block, Prolonged QRS complex, Wolff-Parkinson-White syndrome, Ventricular tachycard... ORPHA:45453
Mitochondrial Complex I Deficiency, Nuclear Type 30
Neonatal death, Congestive heart failure OMIM:301021
Congenital Arthrogryposis With Anterior Horn Cell Disease
Hip dysplasia, Rocker bottom foot, Talipes equinovarus, Arthrogryposis multiplex congenita, Arefl... OMIM:611890
Spondylo-Megaepiphyseal-Metaphyseal Dysplasia
Genu valgum, Delayed pubic bone ossification, Metaphyseal irregularity, Enlarged epiphyses, Protu... OMIM:613330
Chondrodysplasia, Grebe Type
Hypoplasia of the radius, Postaxial hand polydactyly, Short femur, Short phalanx of finger, Still... OMIM:200700
Dent Disease 1
Bulging epiphyses, Enlargement of the ankles, Metaphyseal irregularity, Sparse bone trabeculae, R... OMIM:300009
Metatropic Dysplasia
Scoliosis, Arthrogryposis multiplex congenita, Narrow chest, Dumbbell-shaped metaphyses, Respirat... OMIM:156530
Mesomelic Dysplasia, Kantaputra Type
Radial bowing, Tarsal synostosis, Mesomelia, Carpal synostosis OMIM:156232
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 3
Short phalanx of finger, Joint laxity, Pes planus, High palate, Short femoral neck, Flat capital ... OMIM:612350
Diastrophic Dwarfism
Scoliosis, Elbow dislocation, Respiratory insufficiency, Abnormality of the metacarpal bones, Inc... ORPHA:628
Immunodeficiency 43
Radial bowing, Recurrent respiratory infections, Hypoplasia of the ulna, Bronchiectasis OMIM:241600
Cardiomyopathy, Dilated, 1Y
Dilated cardiomyopathy, Mitral regurgitation, Congestive heart failure, Ventricular tachycardia OMIM:611878
Exostoses, Multiple, Type I
Genu valgum, Scapular exostoses, Madelung-like forearm deformities, Rib exostoses, Coxa vara, Pro... OMIM:133700
Rhyns Syndrome
Radial bowing, Short femoral neck, Osteopenia, Brachydactyly OMIM:602152
Isolated Pierre Robin Syndrome
Neonatal respiratory distress, Upper airway obstruction, Glossoptosis, Cleft palate, Micrognathia... ORPHA:718
Diastrophic Dysplasia
Costal cartilage calcification, Hypoplastic cervical vertebrae, Hitchhiker thumb, Short finger, I... OMIM:222600
Chromosome 17Q23.1-Q23.2 Duplication Syndrome
Hip dysplasia, Genu valgum, Acetabular dysplasia, Talipes equinovarus, Coxa valga OMIM:613618
Temple Syndrome
Scoliosis, Joint hypermobility, Short philtrum, Feeding difficulties, Flexion contracture, Short ... OMIM:616222
Cardiomyopathy, Dilated, 1A
Ventricular arrhythmia, Atrial flutter, Atrial fibrillation, Congestive heart failure, Dilated ca... OMIM:115200
Neu-Laxova Syndrome 2
Scoliosis, Rocker bottom foot, Cleft palate, High palate, Micrognathia OMIM:616038
Chondrodysplasia, Lethal, With Long Bone Angulation And Mixed Bone Density
Hypoplasia of the radius, Short femur, Lytic defects of humeral diaphysis, Absent ossification of... OMIM:601376
Jeune Syndrome
Abnormal clavicle morphology, Abnormality of the ribs, Short thorax, Postaxial hand polydactyly, ... ORPHA:474
Epiphyseal Dysplasia, Multiple, 5
Genu valgum, Hypoplasia of the capital femoral epiphysis, Metaphyseal irregularity, Delayed ossif... OMIM:607078
Spondyloepimetaphyseal Dysplasia With Abnormal Dentition
Genu valgum, Oligodontia, Platyspondyly, Metaphyseal irregularity, Narrow iliac wing, Joint contr... OMIM:601668
Pectus Excavatum, Macrocephaly, Short Stature, And Dysplastic Nails
Midface retrusion, Relative macrocephaly, Macrocephaly, Malar flattening, Depressed nasal bridge OMIM:600399
Desbuquois Dysplasia 2
Broad thumb, Short phalanx of finger, Cutaneous syndactyly, Dental crowding, Joint laxity, Pes pl... OMIM:615777
Gnathodiaphyseal Dysplasia
Scoliosis, Bowing of the long bones, Recurrent fractures, Broad jaw, Osteopenia, Mandibular osteo... ORPHA:53697
Larsen-Like Osseous Dysplasia-Short Stature Syndrome
Hip dysplasia, Scoliosis, Thin vermilion border, Narrow mouth, Short nose, Abnormal form of the v... ORPHA:2370
Potocki-Shaffer Syndrome
Wormian bones, Short nose, Underdeveloped nasal alae, Parietal foramina, Wide nasal bridge, Brach... OMIM:601224
Multiple Epiphyseal Dysplasia With Robin Phenotype
Scoliosis, Metatarsus adductus, Prominent proximal interphalangeal joints, Short femoral neck, Mi... OMIM:601560
Distal Arthrogryposis Type 1
Overlapping fingers, Rocker bottom foot, Camptodactyly of finger, Narrow mouth, Talipes, Abnormal... ORPHA:1146
Achondrogenesis Type 1A
Long philtrum, Short thorax, Short nose, Abnormal enchondral ossification, Narrow chest, Recurren... ORPHA:93299
Metaphyseal Dysplasia Without Hypotrichosis
Joint laxity, Metaphyseal irregularity, Metaphyseal cupping of metacarpals, Short long bone, Meta... OMIM:250460
Dyggve-Melchior-Clausen Disease
Iliac crest serration, Genu valgum, Limited elbow extension, Short thorax, Recurrent upper respir... ORPHA:239
Cerebrooculofacioskeletal Syndrome 3
Rocker bottom foot, Arthrogryposis multiplex congenita, Cleft palate, Talipes equinovarus, Microg... OMIM:616570
Robinow Syndrome, Autosomal Dominant 2
Long philtrum, Broad thumb, Short nose, Anteverted nares, Dental crowding, Abnormality of the den... OMIM:616331
Achondrogenesis, Type Ib
Stillbirth, Narrow chest, Hypoplastic ilia, Short ribs, Respiratory insufficiency, Absent or mini... OMIM:600972
Insulin-Like Growth Factor I Deficiency
Osteopenia, Clinodactyly, Micrognathia, Radial deviation of finger OMIM:608747
Exostoses, Multiple, Type Ii
Genu valgum, Scapular exostoses, Madelung-like forearm deformities, Rib exostoses, Coxa vara, Pro... OMIM:133701
Rhizomelic Syndrome, Urbach Type
Abnormality of the tongue, Abnormality of the knee, Preaxial hand polydactyly, Wide anterior font... ORPHA:3098
Diaphanospondylodysostosis
Respiratory distress, Short nose, Micrognathia, Protuberant abdomen, Thoracic hypoplasia, Bell-sh... OMIM:608022
Oncogenic Osteomalacia
Abnormality of the tarsal bones, Abnormal vertebral morphology, Abnormal pelvis bone morphology, ... ORPHA:352540
Fibular Aplasia, Tibial Campomelia, And Oligosyndactyly Syndrome
Foot oligodactyly, Tibial bowing, Syndactyly, Hand oligodactyly, Short tibia, Fibular aplasia, Ab... OMIM:246570
Chromosome 16P11.2 Deletion Syndrome, 593-Kb
Midface retrusion, Macrocephaly, Micrognathia OMIM:611913
Multiple Epiphyseal Dysplasia Type 5
Hip dysplasia, Genu valgum, Abnormality of upper limb epiphysis morphology, Intervertebral disc d... ORPHA:93311
Rhizomelic Chondrodysplasia Punctata, Type 2
Scoliosis, Anteverted nares, Stippled calcification proximal humeral epiphyses, Rhizomelia, Flexi... OMIM:222765
Arthrogryposis, Distal, Type 3
Arthrogryposis multiplex congenita, Short phalanx of finger, Congenital hip dislocation, High pal... OMIM:114300
X-Linked Intellectual Disability-Plagiocephaly Syndrome
Microcephaly, Flat occiput, Brachycephaly, Plagiocephaly ORPHA:2898
Arrhythmogenic Right Ventricular Dysplasia, Familial, 8
Ventricular extrasystoles, Ventricular tachycardia, Sudden cardiac death, Ventricular fibrillatio... OMIM:607450
Cleft Palate, Deafness, And Oligodontia
Short hallux, Sandal gap, Cleft soft palate, Oligodontia of primary teeth, No permanent dentition OMIM:216300
Eye Defects-Arachnodactyly-Cardiopathy Syndrome
Radioulnar synostosis, Craniofacial hyperostosis, Bowing of the long bones, Non-midline cleft lip... ORPHA:2725
Faciocardiomelic Dysplasia, Lethal
Radial deviation of the hand, Hypoplasia of the radius, Narrow mouth, Talipes, Hypoplasia of the ... OMIM:227270
Pallister-Hall-Like Syndrome
Postaxial hand polydactyly, Short nose, Death in infancy, Short ribs, Microglossia, Depressed nas... OMIM:241800
Peroxisome Biogenesis Disorder 8A (Zellweger)
Feeding difficulties in infancy, Epiphyseal stippling, Death in infancy, Glossoptosis OMIM:614876
Meier-Gorlin Syndrome 1
Absent glenoid fossa, Narrow mouth, Joint laxity, Elbow dislocation, Camptodactyly, Hemivertebrae... OMIM:224690
Melnick-Needles Syndrome
Scoliosis, Narrow chest, Respiratory insufficiency, Short distal phalanx of finger, Short clavicl... ORPHA:2484
Periventricular Nodular Heterotopia 7
Micrognathia, 2-3 toe syndactyly, Flexion contracture, Cleft palate OMIM:617201
Rhizomelic Chondrodysplasia Punctata, Type 3
Rhizomelia, Epiphyseal stippling, Short femur, Short humerus OMIM:600121
Endosteal Hyperostosis, Worth Type
Sclerotic vertebral body, Abnormal form of the vertebral bodies, Craniofacial hyperostosis, Mandi... ORPHA:2790
Endosteal Hyperostosis, Autosomal Dominant
Metacarpal diaphyseal endosteal sclerosis, Sclerotic vertebral body, Metatarsal diaphyseal endost... OMIM:144750
Whistling Face Syndrome, Recessive Form
Prominent nasal bridge, Shoulder flexion contracture, Long philtrum, Talipes equinovarus, Narrow ... OMIM:277720
Autosomal Recessive Cerebellar Ataxia-Epilepsy-Intellectual Disability Syndrome Due To Tud Deficiency
Brachycephaly ORPHA:404493
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome
Abnormal clavicle morphology, Abnormality of the ribs, Short philtrum, Platyspondyly, Downturned ... ORPHA:93267
Hypochondroplasia
Scoliosis, Hyperlordosis, Abnormality of femur morphology, Sleep apnea, Abnormal form of the vert... ORPHA:429
Cebalid Syndrome
Short nose, Midface retrusion, Platystencephaly, Plagiocephaly, Congenital diaphragmatic hernia, ... OMIM:618774
Spondyloepiphyseal Dysplasia Congenita
Scoliosis, Ovoid vertebral bodies, Delayed calcaneal ossification, Limitation of knee mobility, B... OMIM:183900
Ulna Metaphyseal Dysplasia Syndrome
Abnormality of dental morphology, Abnormal form of the vertebral bodies, Abnormality of the denti... ORPHA:1837
Epiphyseal Dysplasia, Multiple, 7
Platyspondyly, Flat acetabular roof, Monkey wrench femoral neck, Genu varum, Short femoral neck, ... OMIM:617719
Femoral-Facial Syndrome
Hip dysplasia, Long philtrum, Scoliosis, Short femur, Radioulnar synostosis, Short nose, Sprengel... ORPHA:1988
Cardiomyopathy, Familial Hypertrophic, 26
Mitral regurgitation, Congestive heart failure, Atrial fibrillation OMIM:617047
Thoracomelic Dysplasia
Hyperlordosis, Genu valgum, Narrow chest, Elbow dislocation, Joint hyperflexibility, Bell-shaped ... ORPHA:1803
Metatropic Dysplasia
Scoliosis, Camptodactyly of finger, Abnormality of the ribs, Hypoplastic cervical vertebrae, Abno... ORPHA:2635
Dysostosis Multiplex, Ain-Naz Type
Scoliosis, Hypoplastic iliac wing, Hemivertebrae, Flat acetabular roof, Glenoid fossa hypoplasia,... OMIM:619345
Schinzel-Giedion Syndrome
Scoliosis, Wormian bones, Camptodactyly, Abnormal thorax morphology, Short distal phalanx of fing... ORPHA:798
Stickler Syndrome, Type Ii
Joint hypermobility, Anteverted nares, Pierre-Robin sequence, Micrognathia, Depressed nasal bridg... OMIM:604841
Craniosynostosis And Dental Anomalies
Delayed eruption of teeth, Craniosynostosis, Lambdoidal craniosynostosis, Sagittal craniosynostos... OMIM:614188
Intellectual Developmental Disorder, X-Linked 1
Secondary microcephaly, Brachycephaly OMIM:309530
Spondyloepiphyseal Dysplasia Tarda
Scoliosis, Limited wrist movement, Localized osteoporosis, Joint swelling, Thoracic kyphosis, Fla... ORPHA:93284
Multiple Synostoses Syndrome 3
Cutaneous syndactyly of toes, Humeroradial synostosis, Broad thumb, Hallux varus, Metacarpal syno... OMIM:612961
Potocki-Shaffer Syndrome
Depressed nasal tip, Underdeveloped nasal alae, Parietal foramina, Brachycephaly, Broad nasal tip... ORPHA:52022
Hyperparathyroidism, Transient Neonatal
Respiratory distress, Feeding difficulties, Narrow chest, Short ribs, Thin ribs, Osteopenia, Femo... OMIM:618188
Spondyloepimetaphyseal Dysplasia, Handigodu Type
Hip dysplasia, Abnormality of the knee, Hump-shaped mound of bone in central and posterior portio... ORPHA:99642
Microcephaly-Microcornea Syndrome, Seemanova Type
Microcephaly, Retrognathia, Brachycephaly ORPHA:2528
Hypophosphatasia, Childhood
Carious teeth, Craniosynostosis, Rachitic rosary, Premature loss of primary teeth, Bowing of the ... OMIM:241510
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2B, Prenatal Onset, Autosomal Dominant
Overlapping fingers, Scoliosis, Arthrogryposis multiplex congenita, Congenital hip dislocation, F... OMIM:618291
Multiple Epiphyseal Dysplasia Type 1
Hip dysplasia, Genu valgum, Finger joint hypermobility, Short long bone, Coxa vara, Avascular nec... ORPHA:93308
Multiple Epiphyseal Dysplasia Due To Collagen 9 Anomaly
Abnormality of the knee, Genu valgum, Reduced arm span, Abnormality of the ankles, Abnormality of... ORPHA:166002
Cardiomyopathy, Dilated, 1Kk
Atrial fibrillation, Congestive heart failure, Dilated cardiomyopathy, Mitral regurgitation, Hype... OMIM:615248
Severe Achondroplasia-Developmental Delay-Acanthosis Nigricans Syndrome
Abnormal clavicle morphology, Metaphyseal chondrodysplasia, Tibial bowing, Femoral bowing, Fibula... ORPHA:85165
Dyssegmental Dysplasia, Silverman-Handmaker Type
Anisospondyly, Narrow mouth, Thoracic hypoplasia, Bowing of the long bones, Wide nasal bridge, Sh... OMIM:224410
Spondyloepimetaphyseal Dysplasia, Irapa Type
Short metatarsal, Pes planus, Abnormality of the carpal bones, Abnormality of the ribs, Abnormali... ORPHA:93351
Angel-Shaped Phalango-Epiphyseal Dysplasia
Hip dysplasia, Delayed eruption of teeth, Abnormality of epiphysis morphology, Hip osteoarthritis... ORPHA:63442
Platyspondylic Lethal Skeletal Dysplasia, Torrance Type
Disc-like vertebral bodies, Narrow chest, Protuberant abdomen, Hypoplastic ilia, Decreased crania... OMIM:151210
Osteogenesis Imperfecta, Type V
Joint hypermobility, Wormian bones, Platyspondyly, Biconcave vertebral bodies, Pes planus, Recurr... OMIM:610967
Zimmermann-Laband Syndrome 3
Broad nasal tip, Thick lower lip vermilion, Absent distal phalanx of the 2nd toe, Kyphosis, Flexi... OMIM:618658
Anauxetic Dysplasia 3
Joint hypermobility, Oligodontia, Hip subluxation, Narrow chest, Femoral bowing, Depressed nasal ... OMIM:618853
Craniometadiaphyseal Dysplasia
Scoliosis, Genu valgum, Carious teeth, Cubitus valgus, Wormian bones, Broad ribs, Wide anterior f... OMIM:269300
Familial Anetoderma
Abnormality of tibia morphology, Generalized joint laxity, Irregular dentition, Lumbar hyperlordo... ORPHA:228277
Spondyloepimetaphyseal Dysplasia, X-Linked
Short phalanx of finger, Broad long bone diaphyses, Metaphyseal irregularity, Flared iliac wing, ... OMIM:300106
Spondyloperipheral Dysplasia-Short Ulna Syndrome
Hip dysplasia, Type E brachydactyly, Delayed pubic bone ossification, Limited elbow extension, Ab... ORPHA:1856
Acrocapitofemoral Dysplasia
Scoliosis, Hyperlordosis, Short thorax, Narrow chest, Flared iliac wing, Pectus carinatum, Short ... ORPHA:63446
X-Linked Hypophosphatemia
Craniosynostosis, Flared iliac wing, Generalized osteosclerosis, Rachitic rosary, Bowing of the l... ORPHA:89936
Spondyloepimetaphyseal Dysplasia, Shohat Type
Scoliosis, Generalized bone demineralization, Joint laxity, Metaphyseal irregularity, Bowing of t... ORPHA:93352
Spondyloepimetaphyseal Dysplasia With Hypotrichosis
Proximal femoral metaphyseal irregularity, Decreased hip abduction, Flared iliac wing, Rhizomelia... OMIM:183849
Tumoral Calcinosis, Hyperphosphatemic, Familial, 2
Radial bowing OMIM:617993
Intellectual Developmental Disorder, X-Linked, Syndromic 14
Frontal bossing, Mandibular prognathia, Macrocephaly, Prominent nasal bridge, Hypoplasia of the m... OMIM:300676
Spondyloepiphyseal Dysplasia Congenita
Scoliosis, Abnormal respiratory system physiology, Laryngotracheomalacia, Flat acetabular roof, S... ORPHA:94068
Mental Retardation, Autosomal Dominant 26
Wide nasal base, Arthrogryposis multiplex congenita, Prominent nasal tip, Small for gestational a... OMIM:615834
Blomstrand Lethal Chondrodysplasia
Narrow chest, Natal tooth, Increased bone mineral density, Aplastic clavicle, Micrognathia, Dista... ORPHA:50945
Chromosome 3Pter-P25 Deletion Syndrome
Anteverted nares, Flat occiput, Low hanging columella, Wide nasal bridge, Trigonocephaly, Brachyc... OMIM:613792
Rhiny
Inguinal hernia, Anteverted nares, Short nose OMIM:180360
Mosaic Variegated Aneuploidy Syndrome 1
Long philtrum, Short nose, Anteverted nares, Short sternum, Triangular mouth, Cleft palate, Feedi... OMIM:257300
Craniometadiaphyseal Dysplasia, Wormian Bone Type
Wormian bones, Broad ribs, Wide anterior fontanel, High palate, Osteopenia, Obtuse angle of mandi... ORPHA:85184
Arthrogryposis Multiplex Congenita 4, Neurogenic, With Agenesis Of The Corpus Callosum
Rocker bottom foot, Thin vermilion border, Arthrogryposis multiplex congenita, Narrow mouth, Bulb... OMIM:618766
Craniosynostosis 4
Posterior plagiocephaly, Pansynostosis, Lambdoidal craniosynostosis, Frontal bossing, Anterior pl... OMIM:600775
Butyrylcholinesterase Deficiency
Myocardial infarction, Congestive heart failure ORPHA:132
Autosomal Recessive Distal Osteolysis Syndrome
Midface retrusion, Hypoplasia of the maxilla, Broad nasal tip ORPHA:2776
Maxillonasal Dysplasia
Short nose, Midface retrusion, Hypoplasia of the maxilla, Short columella, Mandibular prognathia,... ORPHA:1248
Craniosynostosis-Hydrocephalus-Arnold-Chiari Malformation Type I-Radioulnar Synostosis Syndrome
Craniosynostosis, Short nose, Large fontanelles, Short columella, Umbilical hernia, Laryngomalaci... ORPHA:171839
Osteogenesis Imperfecta, Type Xii
Wormian bones, Delayed eruption of teeth, Midface retrusion, Brachyturricephaly, Micrognathia, Ma... OMIM:613849
Polymicrogyria, Perisylvian, With Cerebellar Hypoplasia And Arthrogryposis
Overlapping fingers, Arthrogryposis multiplex congenita, Externally rotated hips, Talipes equinov... OMIM:616531
Acrocephalopolydactyly
Abnormality of the mouth, Short nose, Protuberant abdomen, Genu recurvatum, Thoracic hypoplasia, ... ORPHA:221054
Orofaciodigital Syndrome Type 10
Tarsal synostosis, Micrognathia, Mesomelic leg shortening, Hypoplasia of proximal radius, Depress... ORPHA:2756
Microcephaly 13, Primary, Autosomal Recessive
Metaphyseal sclerosis, Small hand, Short foot, Micrognathia, Prominent nose OMIM:616051
Mental Retardation, Autosomal Recessive 27
Midface retrusion, Microcephaly, Depressed nasal bridge OMIM:614340
Hypocalcemic Vitamin D-Resistant Rickets
Scoliosis, Genu valgum, Osteolysis, Abnormal form of the vertebral bodies, Bone cyst, Recurrent f... ORPHA:93160
Fgfr2-Related Bent Bone Dysplasia
Steep acetabular roof, Incomplete ossification of pubis, Decreased calvarial ossification, Natal ... ORPHA:313855
Epiphyseal Dysplasia, Multiple, 1
Genu valgum, Short phalanx of finger, Generalized joint laxity, Hip osteoarthritis, Irregular epi... OMIM:132400
Osteopathia Striata-Cranial Sclerosis Syndrome
Scoliosis, Delayed eruption of teeth, Hyperlordosis, Large iliac wing, Osteopetrosis, High iliac ... ORPHA:2780
Endocardial Fibroelastosis
Restrictive cardiomyopathy, Cryptorchidism, Congestive heart failure, Hypoplasia of penis ORPHA:2022
Gómez-López-Hernández Syndrome
Midface retrusion, Anteverted nares, Brachycephaly, Turricephaly ORPHA:1532
Intellectual Developmental Disorder, Autosomal Dominant 44, With Microcephaly
Short nose, Feeding difficulties, Dental crowding, Micrognathia, Kyphosis, 2-3 toe syndactyly, Th... OMIM:617061
Pseudodiastrophic Dysplasia
Frontal bossing, Midface retrusion, Camptodactyly, Malar flattening, Brachycephaly, Failure to th... OMIM:264180
Spondylometaepiphyseal Dysplasia, Short Limb-Hand Type
Scoliosis, Epiphyseal stippling, Hip subluxation, Short phalanx of finger, Tracheal calcification... OMIM:271665
Lethal Faciocardiomelic Dysplasia
Radial club hand, Hypoplasia of the radius, Narrow mouth, Microretrognathia, Hypoplasia of the ul... ORPHA:1972
Isolated Brachycephaly
Midface retrusion, Brachycephaly ORPHA:35099
Acrorenal Syndrome
Abnormality of tibia morphology, Micrognathia, Split hand, Aplasia/Hypoplasia of the radius, Clef... ORPHA:971
Congenital Contractures Of The Limbs And Face, Hypotonia, And Developmental Delay
Pursed lips, Long philtrum, Scoliosis, Micrognathia, Camptodactyly, Gastroesophageal reflux, Cong... OMIM:616266
Desbuquois Dysplasia 1
Scoliosis, Short metatarsal, Narrow mouth, Joint laxity, Narrow chest, Phalangeal dislocation, Br... OMIM:251450
Clark-Baraitser syndrome
Scoliosis, Genu valgum, Joint laxity, Broad nasal tip, Broad palm, Genu recurvatum, Anteverted na... OMIM:300602
Spondyloepimetaphyseal Dysplasia, Isidor-Toutain Type
Scoliosis, Platyspondyly, Enlarged metaphyses, Lower-limb metaphyseal irregularity, Short long bo... OMIM:618728
Dysspondyloenchondromatosis
Scoliosis, Genu valgum, Platyspondyly, Enlarged joints, Metaphyseal enchondromatosis, Anisospondy... ORPHA:85198
Cardiocranial Syndrome, Pfeiffer Type
Cutaneous syndactyly of toes, Small hypothenar eminence, Deep palmar crease, Temporomandibular jo... ORPHA:2872
Greenberg Dysplasia
Platyspondyly, Abnormal bone ossification, Narrow chest, Abnormal form of the vertebral bodies, R... ORPHA:1426
Craniodigital-Intellectual Disability Syndrome
Short nose, Micrognathia, Brachycephaly, Narrow nasal bridge ORPHA:1514
Atelosteogenesis Type Ii
Short phalanx of finger, Narrow chest, Elbow dislocation, Hitchhiker thumb, Camptodactyly, Sandal... ORPHA:56304
Cataract-Intellectual Disability-Hypogonadism Syndrome
Scoliosis, Hyperlordosis, Short philtrum, Tooth malposition, Feeding difficulties in infancy, Eve... ORPHA:1387
Premature Aging Syndrome, Penttinen Type
Wormian bones, Delayed eruption of teeth, Thin calvarium, Midface retrusion, Hypoplasia of the ma... OMIM:601812
Microbrachycephaly-Ptosis-Cleft Lip Syndrome
Shagreen patch, Large fontanelles, Mandibular prognathia, Abnormality of the zygomatic bone, Flat... ORPHA:2511
Eiken Syndrome
Short phalanx of finger, Metaphyseal irregularity, Thin bony cortex, Delayed epiphyseal ossificat... ORPHA:79106
Radio-Renal Syndrome
Hypoplasia of the radius, Dyspnea, Respiratory distress, Downturned corners of mouth, Abnormal fo... ORPHA:3015
Heart-Hand Syndrome Type 2
Abnormal clavicle morphology, Short 4th metacarpal, Hand polydactyly, Hemiatrophy, Abnormal palat... ORPHA:1350
Cardiac Conduction Disease With Or Without Dilated Cardiomyopathy
Paroxysmal supraventricular tachycardia, Atrial flutter, Ventricular extrasystoles, Atrial fibril... OMIM:616117
Short-Rib Thoracic Dysplasia 9 With Or Without Polydactyly
Macroglossia, Craniosynostosis, Short phalanx of finger, High palate, Cone-shaped epiphysis, Wide... OMIM:266920
Spondyloepiphyseal Dysplasia, Nishimura Type
Abnormal femoral neck/head morphology, Downturned corners of mouth, Narrow chest, Thoracic kyphos... ORPHA:163649
Neurodevelopmental Disorder With Structural Brain Anomalies And Dysmorphic Facies
Short nose, Midface retrusion, Unilambdoid synostosis, Plagiocephaly, Wide nasal bridge, Brachyce... OMIM:618577
Multiple Metaphyseal Dysplasia
Hyperlordosis, Broad distal phalanx of finger, Abnormality of tibia morphology, Abnormality of ep... ORPHA:93430
Congenital Hypothyroidism Due To Maternal Intake Of Antithyroid Drugs
Macroglossia, Respiratory distress, Abnormality of epiphysis morphology, Protuberant abdomen, Con... ORPHA:226313
Morbid Obesity And Spermatogenic Failure
Azoospermia, Oligospermia, Hypertension, Myocardial infarction, Congestive heart failure OMIM:615703
Fibrous Dysplasia Of Bone
Scoliosis, Abnormality of tibia morphology, Abnormality of facial skeleton, Pathologic fracture, ... ORPHA:249
Chondrodysplasia With Joint Dislocations, Gpapp Type
Genu valgum, Short toe, Narrow mouth, Short nose, Short foot, Wide nasal bridge, Cleft palate, Sh... OMIM:614078
Brachydactyly-Preaxial Hallux Varus Syndrome
Radial club hand, Preaxial hand polydactyly, Short metatarsal, Broad thumb, Abnormal palate morph... ORPHA:1278
Polyneuropathy-Intellectual Disability-Acromicria-Premature Menopause Syndrome
Camptodactyly of finger, Furrowed tongue, Ulnar deviation of finger, Abnormality of pelvic girdle... ORPHA:2928
Hydrops Fetalis, Nonimmune
Congestive heart failure OMIM:236750
Split-Foot Deformity With Mandibulofacial Dysostosis
Toe syndactyly, Split hand, Split foot, Cleft palate, Micrognathia, Malar flattening OMIM:183700
Neurodevelopmental Disorder With Central And Peripheral Motor Dysfunction
Feeding difficulties, Respiratory insufficiency, Wide nasal bridge, Glossoptosis, Cleft palate, 1... OMIM:618356
Pituitary Hormone Deficiency, Combined, 1
Short nose, Frontal bossing, Midface retrusion, Malar flattening, Delayed cranial suture closure,... OMIM:613038
Hypomandibular Faciocranial Dysostosis
Choanal stenosis, Coronal craniosynostosis, Micrognathia, Malar flattening, Hypoplasia of the max... OMIM:241310
Dermatosparaxis Ehlers-Danlos Syndrome
Hip dysplasia, Hiatus hernia, Esophagitis, Osteoporosis, Scoliosis, Rickets, Joint hyperflexibili... ORPHA:1901
Tibia, Absence Or Hypoplasia Of, With Polydactyly, Retrocerebellar Arachnoid Cyst, And Other Anomalies
Radial bowing, Preaxial foot polydactyly, Abnormal thorax morphology, Aplasia/Hypoplasia of the t... OMIM:601027
Mucopolysaccharidosis, Type Iva
Scoliosis, Carious teeth, Constricted iliac wing, Joint laxity, Mandibular prognathia, Large elbo... OMIM:253000
Mohr Syndrome
Scoliosis, Wormian bones, Metaphyseal irregularity, Tongue nodules, Short palm, Lobulated tongue,... OMIM:252100
Miller-Dieker syndrome (MDS)
Midface retrusion, Microcephaly, Frontal bossing DECIPHER:21
Short Stature, Brussels Type
Calcification of cartilage, Microretrognathia, Narrow chest, Delayed epiphyseal ossification ORPHA:2867
Arthrogryposis Multiplex Congenita 1, Neurogenic, With Myelin Defect
Talipes equinovarus, Scapular winging, Arthrogryposis multiplex congenita, Dental crowding, Campt... OMIM:617468
Hypophosphatasia, Infantile
Craniosynostosis, Death in infancy, Anorexia, Rachitic rosary, Bowing of the legs, Increased susc... OMIM:241500
Arthrogryposis Multiplex Congenita-Whistling Face Syndrome
Thin vermilion border, Narrow mouth, Downturned corners of mouth, Pierre-Robin sequence, Microgna... ORPHA:1150
Coffin-Siris Syndrome 1
Scoliosis, Joint laxity, Intestinal malrotation, Choanal atresia, Sandal gap, Aplasia/Hypoplasia ... OMIM:135900
Osteogenesis Imperfecta, Type Xxi
Osteoporosis, Joint hypermobility, Scoliosis, Wormian bones, Platyspondyly, Pes planus, Pectus ex... OMIM:619131
Achondroplasia
Bowing of the legs, Flat acetabular roof, Narrow greater sciatic notch, Depressed nasal bridge, L... ORPHA:15
Femur-Fibula-Ulna Complex
Humeroradial synostosis, Finger syndactyly, Split hand, Short humerus, Aplasia/Hypoplasia of the ... ORPHA:2019
Atkin-Flaitz Syndrome
Scoliosis, Genu valgum, Joint laxity, Broad nasal tip, Broad palm, Genu recurvatum, Anteverted na... OMIM:300431
Progressive Pseudorheumatoid Arthropathy Of Childhood
Abnormal ilium morphology, Scoliosis, Irregularity of vertebral bodies, Abnormal hip joint morpho... ORPHA:1159
Ulnar-Mammary Syndrome
Hypoplasia of the radius, Postaxial hand polydactyly, Anal stenosis, Hypoplastic scapulae, Pylori... OMIM:181450
Fetal Akinesia Deformation Sequence 4
Rocker bottom foot, Arthrogryposis multiplex congenita, Camptodactyly, Flexion contracture, Kypho... OMIM:618393
Mesomelia-Synostoses Syndrome
Abnormality of tibia morphology, Narrow mouth, Bulbous nose, Abnormality of the metacarpal bones,... ORPHA:2496
Orofaciodigital Syndrome Xviii
Genu valgum, Short philtrum, Short middle phalanx of finger, Preaxial polydactyly, Diastema, Post... OMIM:617927
Aminopterin Syndrome Sine Aminopterin
Frontal bossing, Decreased body weight, Umbilical hernia, Inguinal hernia, Brachycephaly, Joint c... OMIM:600325
Hemochromatosis, Type 2B
Hypogonadism, Congestive heart failure, Cardiomyopathy OMIM:613313
Mental Retardation With Language Impairment And With Or Without Autistic Features
Short nose, Failure to thrive in infancy, Broad nasal tip, Macrocephaly, Retrognathia, Malar flat... OMIM:613670
Orofaciodigital Syndrome Vi
Preaxial hand polydactyly, Toe syndactyly, Broad nasal tip, Central Y-shaped metacarpal, Tongue n... OMIM:277170
Cardiomyopathy, Dilated, 1D
Dilated cardiomyopathy, Congestive heart failure, Atrial fibrillation OMIM:601494
Ventricular Extrasystoles With Syncopal Episodes-Perodactyly-Robin Sequence Syndrome
Short 4th metacarpal, Camptodactyly of finger, Short foot, Short distal phalanx of finger, Hypodo... ORPHA:3201
Otospondylomegaepiphyseal Dysplasia, Autosomal Dominant
Platyspondyly, Anteverted nares, Enlarged epiphyses, Pierre-Robin sequence, Premature osteoarthri... OMIM:184840
Pseudoachondroplasia
Scoliosis, Irregular carpal bones, Short phalanx of finger, Metaphyseal irregularity, Joint laxit... OMIM:177170
Cerebrocostomandibular Syndrome
Scoliosis, Anomalous tracheal cartilage, Congenital hip dislocation, High palate, Micrognathia, E... OMIM:117650
Fibular Aplasia-Complex Brachydactyly Syndrome
Abnormality of tibia morphology, Abnormal thumb morphology, Tarsal synostosis, Abnormality of epi... ORPHA:2639
Cardiomyopathy, Familial Hypertrophic, 8
Palpitations, Restrictive cardiomyopathy, T-wave inversion, Sudden cardiac death, Ventricular fib... OMIM:608751
Craniometaphyseal Dysplasia, Autosomal Dominant
Erlenmeyer flask deformity of the femurs, Tooth malposition, Abnormal nasopharynx morphology, Man... OMIM:123000
Mental Retardation, X-Linked, Syndromic 12
Mandibular prognathia, Brachycephaly OMIM:309545
Rubinstein-Taybi Syndrome 2
Carious teeth, Narrow palate, Broad thumb, Micrognathia, Intestinal malrotation, Syndactyly, Retr... OMIM:613684
Greenberg Dysplasia
Epiphyseal stippling, Tracheal calcification, Short phalanx of finger, Narrow chest, Intestinal m... OMIM:215140
Spondyloepimetaphyseal Dysplasia, Irapa Type
Hypoplastic sacrum, Genu valgum, Limited elbow extension, Upper limb undergrowth, Short metatarsa... OMIM:271650
Crouzon Syndrome With Acanthosis Nigricans
Midface retrusion, Craniosynostosis, Choanal atresia, Brachycephaly OMIM:612247
Rhizomelic Chondrodysplasia Punctata, Type 1
Epiphyseal stippling, Coronal cleft vertebrae, Calcific stippling of infantile cartilaginous skel... OMIM:215100
Dyssegmental Dysplasia With Glaucoma
Platyspondyly, Wide anterior fontanel, Broad long bones, Short long bone, Cleft palate, Flared me... OMIM:601561
Spondyloepimetaphyseal Dysplasia, X-Linked, With Hypomyelinating Leukodystrophy
Wormian bones, Flared iliac wing, Thoracic kyphosis, Small epiphyses, High palate, Short femoral ... OMIM:300232
Langer Mesomelic Dysplasia
Abnormality of epiphysis morphology, Mesomelic/rhizomelic limb shortening, High palate, Bowing of... ORPHA:2632
Sheldon-Hall Syndrome
Overlapping fingers, Scoliosis, Tarsal synostosis, Micrognathia, Aplasia/Hypoplasia of the radius... ORPHA:1147
Hemochromatosis, Type 2A
Arrhythmia, Azoospermia, Congestive heart failure, Dilated cardiomyopathy, Cardiomyopathy, Hypogo... OMIM:602390
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly
Scoliosis, Horizontal ribs, Postaxial polydactyly, Intestinal malrotation, Hamartoma of tongue, S... OMIM:613091
Spondyloepiphyseal Dysplasia Tarda, Autosomal Recessive, Leroy-Spranger Type
Scoliosis, Genu valgum, Platyspondyly, Decreased hip abduction, Pectus carinatum, Thoracic kyphos... OMIM:609223
Autosomal Recessive Stickler Syndrome
Genu valgum, Platyspondyly, Abnormality of epiphysis morphology, Joint hyperflexibility, Irregula... ORPHA:250984
Temple Syndrome Due To Maternal Uniparental Disomy Of Chromosome 14
Scoliosis, Joint hypermobility, Short philtrum, Narrow mouth, Feeding difficulties, Micrognathia,... ORPHA:96184
Mucopolysaccharidosis, Type Ivb
Scoliosis, Carious teeth, Constricted iliac wing, Joint laxity, Mandibular prognathia, Ovoid vert... OMIM:253010
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 2
Short nose, Pneumonia, Retrognathia, Anteverted nares, Chronic bronchitis, Depressed nasal bridge OMIM:614069
Arterial Calcification, Generalized, Of Infancy, 2
Myocardial infarction, Congestive heart failure, Hypertension OMIM:614473
Orofacial Cleft 13
Cleft soft palate, Oligodontia, Micrognathia OMIM:613857
Achondrogenesis
Short nose, Frontal bossing, Umbilical hernia, Inguinal hernia, Aplasia/Hypoplasia of the lungs, ... ORPHA:932
Multiple Epiphyseal Dysplasia, Beighton Type
Lumbar platyspondyly, Abnormal hip joint morphology, Flattened femoral head, Thoracic platyspondy... ORPHA:166011
Otospondylomegaepiphyseal Dysplasia, Autosomal Recessive
Short phalanx of finger, Bulbous nose, Micrognathia, Coronal cleft vertebrae, Flexion contracture... OMIM:215150
Cleft Palate-Short Stature-Vertebral Anomalies Syndrome
Micrognathia, Anteverted nares, Short nose ORPHA:2015
Chondroectodermal Dysplasia With Night Blindness
Osteoporosis, Abnormality of the knee, Platyspondyly, Metaphyseal irregularity, Abnormality of de... ORPHA:319195
Charlie M Syndrome
Short philtrum, Thin vermilion border, Narrow mouth, Finger syndactyly, Micrognathia, Split hand,... ORPHA:1406
Turner Syndrome Due To Structural X Chromosome Anomalies
Scoliosis, Shield chest, Enlarged thorax, Pes planus, Neck pterygia, High palate, High, narrow pa... ORPHA:99413
Acrofacial Dysostosis Syndrome Of Rodriguez
Oligodactyly, Talipes equinovarus, Short philtrum, Wide anterior fontanel, Overlapping toe, Narro... OMIM:201170
Mosaic Monosomy X
Scoliosis, Shield chest, Enlarged thorax, Pes planus, Neck pterygia, High palate, High, narrow pa... ORPHA:99228
Monosomy X
Scoliosis, Shield chest, Enlarged thorax, Pes planus, Neck pterygia, High palate, High, narrow pa... ORPHA:99226
Turner Syndrome
Scoliosis, Shield chest, Enlarged thorax, Pes planus, Neck pterygia, High palate, High, narrow pa... ORPHA:881
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type
Platyspondyly, Short philtrum, Metaphyseal chondrodysplasia, Short nose, Rhizomelia, Metaphyseal ... ORPHA:163966
Carey-Fineman-Ziter Syndrome
Scoliosis, Broad nasal tip, Feeding difficulties, Anteverted nares, Pierre-Robin sequence, Dyspha... OMIM:254940
Pierpont Syndrome
Short nose, Midface retrusion, Decreased body weight, Brachycephaly, Failure to thrive, Broad nas... OMIM:602342
Distal Monosomy 17Q
Short thorax, Abnormal thumb morphology, Narrow mouth, Abnormality of the philtrum, Aplasia/Hypop... ORPHA:1597
Craniosynostosis 2
Unicoronal synostosis, Craniosynostosis, Frontal bossing, Trigonocephaly, Brachycephaly, Supernum... OMIM:604757
Chondrodysplasia Punctata, Tibia-Metacarpal Type
Short 4th metacarpal, Short 3rd metacarpal, Epiphyseal stippling, Coronal cleft vertebrae, Limb u... OMIM:118651
Osteopetrosis, Autosomal Dominant 1
Mandibular pain, Torus palatinus, Generalized osteosclerosis, Osteopetrosis, Calvarial osteoscler... OMIM:607634
Combined Oxidative Phosphorylation Deficiency 17
Congestive heart failure, Hypertrophic cardiomyopathy OMIM:615440
Cardiomyopathy-Cataract-Hip Spine Disease Syndrome
Arrhythmia, Hypertension, Pulmonary embolism, Congestive heart failure, Hypertrophic cardiomyopathy ORPHA:1345
Sillence Syndrome
Scoliosis, Large iliac wing, Broad thumb, Abnormal proximal phalanx morphology of the hand, Campt... ORPHA:3168
Rnf13-Related Severe Early-Onset Epileptic Encephalopathy
Hip dysplasia, Joint hypermobility, Scoliosis, Finger joint hypermobility, Feeding difficulties, ... ORPHA:544503
Atransferrinemia
Congestive heart failure OMIM:209300
Combined Oxidative Phosphorylation Deficiency 23
Cardiomyopathy, Arrhythmia, Congestive heart failure OMIM:616198
Coxopodopatellar Syndrome
Hip dysplasia, Abnormality of the knee, Abnormality of epiphysis morphology, Aplasia/Hypoplasia o... ORPHA:1509
Cerebrooculofacioskeletal Syndrome 1
Osteoporosis, Rocker bottom foot, Thin vermilion border, Long philtrum, Arthrogryposis multiplex ... OMIM:214150
Arthrogryposis, distal, with hypopituitarism, mental retardation,and facial anomalies
Camptodactyly of finger, Arthrogryposis multiplex congenita, Hammertoe, Distal arthrogryposis, Mi... OMIM:208080
Rhizomelic Dysplasia, Patterson-Lowry Type
Deformed humeral heads, Short metatarsal, Rhizomelia, Short humerus, Coxa vara, Short metacarpal,... OMIM:601438
Infantile-Onset X-Linked Spinal Muscular Atrophy
Arthrogryposis multiplex congenita, Respiratory distress, Short ribs, Respiratory insufficiency, ... ORPHA:1145
Facial Dysmorphism, Hypertrichosis, Epilepsy, Intellectual/Developmental Delay, And Gingival Overgrowth Syndrome
Hip dysplasia, Short philtrum, Micrognathia, Deep philtrum, Wide mouth, Smooth philtrum, Gingival... OMIM:618381
Hypophosphatemic Bone Disease
Rickets, Osteomalacia, Bowing of the legs OMIM:146350
Non-Eruption Of Teeth-Maxillary Hypoplasia-Genu Valgum Syndrome
Genu valgum, Delayed eruption of teeth, Abnormality of dental morphology, Hypodontia, Alveolar pr... ORPHA:2972
Macrocephaly/Autism Syndrome
Postnatal macrocephaly, Biparietal narrowing, Short nose, Frontal bossing, Obesity, Depressed nas... OMIM:605309
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 2
Scoliosis, Congenital hip dislocation, Metaphyseal irregularity, Joint laxity, Posterior scallopi... OMIM:603546
Polydactyly, Postaxial, With Dental And Vertebral Anomalies
Enamel hypoplasia, Tarsal synostosis, Narrow chest, Mandibular prognathia, Hemivertebrae, Hypopla... OMIM:263540
Arthrochalasia Ehlers-Danlos Syndrome
Hip dysplasia, Scoliosis, Joint hyperflexibility, Avascular necrosis of the capital femoral epiph... ORPHA:1899
9q subtelomeric deletion syndrome
Midface retrusion, Microcephaly, Anteverted nares, Short nose DECIPHER:52
3M Syndrome
Scoliosis, Abnormal dental enamel morphology, Congenital hip dislocation, Enlarged thorax, Bulbou... ORPHA:2616
Left Ventricular Noncompaction 1
Ventricular arrhythmia, Atrial fibrillation, Sudden cardiac death, Congestive heart failure, Left... OMIM:604169
Microcephaly 16, Primary, Autosomal Recessive
Micrognathia, Adducted thumb, Knee flexion contracture, Open mouth OMIM:616681
Pierpont Syndrome
Abnormal subcutaneous fat tissue distribution, Primary microcephaly, Small for gestational age, B... ORPHA:487825
Ear-Patella-Short Stature Syndrome
Craniosynostosis, Narrow mouth, Elbow dislocation, Abnormality of the ribs, High, narrow palate, ... ORPHA:2554
Familial Dilated Cardiomyopathy
Ventricular arrhythmia, Palpitations, Reduced ejection fraction, Arrhythmia, Elevated pulmonary a... ORPHA:217607
Tetrasomy 9P
Abnormal dental enamel morphology, Bulbous nose, Downturned corners of mouth, Dental crowding, Bi... ORPHA:3310
Omodysplasia 2
Dislocated radial head, Hypoplastic distal humeri, Long philtrum, Limited elbow flexion/extension... OMIM:164745
Corpus Callosum, Agenesis Of, With Facial Anomalies And Robin Sequence
Downturned corners of mouth, Narrow chest, Micrognathia, Depressed nasal bridge, Wide anterior fo... OMIM:217980
Spondyloepimetaphyseal Dysplasia, Matrilin-3 Type
Limited elbow extension, Enlarged joints, Thoracic hypoplasia, Pectus excavatum, Limb undergrowth... ORPHA:156728
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly
Narrow chest, Natal tooth, Horizontal ribs, Postaxial polydactyly, Respiratory insufficiency, Fla... OMIM:616300
Robinow Syndrome, Autosomal Recessive 2
Short nose, Frontal bossing, Midface retrusion, Camptodactyly, Omphalocele, Wide nasal bridge, Re... OMIM:618529
Arthrogryposis, Distal, Type 5D
Scoliosis, Hyperlordosis, Arthrogryposis multiplex congenita, Bulbous nose, Anteverted nares, Mic... OMIM:615065
Spondylomegaepiphyseal Dysplasia With Upper Limb Mesomelia, Punctate Calcifications, And Deafness
Scoliosis, Pes planus, Flat acetabular roof, Narrow greater sciatic notch, Cone-shaped epiphyses ... OMIM:609616
Dyssegmental Dysplasia, Silverman-Handmaker Type