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
Metaphyseal Dysplasia, Braun-Tinschert Type
Upper limb metaphyseal widening, Osteopenia, Humerus varus, Thin bony cortex, Hypoplasia of the u... ORPHA:85188
Multiple Epiphyseal Dysplasia Type 4
High palate, Short metacarpal, Cleft palate, Upper limb undergrowth, Arthralgia of the hip, Abnor... ORPHA:93307
Spondyloepimetaphyseal Dysplasia, Missouri Type
Coxa vara, Tibial bowing, Metaphyseal cupping, Radial bowing, Flared iliac wing, Femoral bowing, ... OMIM:602111
Cleidocranial Dysplasia
Cleft palate, Abnormality of the dentition, Down-sloping shoulders, Delayed eruption of teeth, Ta... ORPHA:1452
Dysosteosclerosis
High palate, Short sternum, Osteopenia, Platyspondyly, Delayed eruption of teeth, Broad ribs, Scl... OMIM:224300
Schneckenbecken Dysplasia
Cleft palate, Platyspondyly, Ovoid vertebral bodies, Dumbbell-shaped long bone, Thoracic hypoplas... OMIM:269250
Thanatophoric Dysplasia, Type Ii
Narrow chest, Wide-cupped costochondral junctions, Small abnormally formed scapulae, Metaphyseal ... OMIM:187601
Platyspondylic Dysplasia, Torrance Type
Short distal phalanx of finger, Narrow chest, Metaphyseal cupping, Abdominal distention, Cleft pa... ORPHA:85166
Otopalatodigital Syndrome, Type Ii
Pectus excavatum, Radial deviation of the 2nd finger, Cleft palate, Femoral bowing, Congenital hi... OMIM:304120
Fibrochondrogenesis 1
Cleft palate, Platyspondyly, Rhizomelia, Dumbbell-shaped long bone, Posterior rib cupping, Short ... OMIM:228520
Léri-Weill Dyschondrosteosis
Abnormality of femur morphology, Hypoplasia of the radius, Cone-shaped epiphysis, Abnormality of ... ORPHA:240
Spondylometaphyseal Dysplasia With Cone-Rod Dystrophy
Metaphyseal irregularity, Tibial bowing, Metaphyseal cupping, Coxa vara, Dental malocclusion, Nar... OMIM:608940
Ulnar Hemimelia
Aplasia/Hypoplasia of the ulna, Upper limb phocomelia, Radial club hand, Glenoid fossa hypoplasia... ORPHA:93320
Dyggve-Melchior-Clausen Disease
Cone-shaped epiphyses of the phalanges of the hand, Prominent sternum, Femoral bowing, Barrel-sha... OMIM:223800
Kniest Dysplasia
Enlarged joints, Respiratory distress, Pectus excavatum, Cleft palate, Platyspondyly, Hypoplastic... OMIM:156550
Microcephalic Osteodysplastic Primordial Dwarfism, Type Ii
Short 1st metacarpal, Cone-shaped epiphysis, Microdontia, Proximal femoral epiphysiolysis, Distal... OMIM:210720
Autosomal Dominant Myopia-Midfacial Retrusion-Sensorineural Hearing Loss-Rhizomelic Dysplasia Syndrome
Narrow chest, Cleft palate, Short femur, Glossoptosis, Femoral bowing, Metaphyseal widening, Micr... ORPHA:440354
Atelosteogenesis, Type Iii
Tibial bowing, Radial bowing, Talipes equinovarus, Knee dislocation, Cleft palate, Malar flatteni... OMIM:108721
Short Stature, Auditory Canal Atresia, Mandibular Hypoplasia, And Skeletal Abnormalities
High palate, Dislocated radial head, Narrow mouth, Talipes equinovarus, Feeding difficulties, Mal... OMIM:602471
Atelosteogenesis, Type I
Aplasia/Hypoplasia of the ulna, Cleft palate, 11 pairs of ribs, Rhizomelia, Multinucleated giant ... OMIM:108720
Cardiomyopathy, Dilated, 1Dd
Sudden cardiac death, Dilated cardiomyopathy, Congestive heart failure, Left ventricular systolic... OMIM:613172
Spondylometaphyseal Dysplasia, Kozlowski Type
Abnormal humeral metaphysis morphology, Platyspondyly, Pectus carinatum, Premature osteoarthritis... ORPHA:93314
Pierre Robin Sequence With Pectus Excavatum And Rib And Scapular Anomalies
Pectus excavatum, Cleft palate, Micrognathia, Hypoplastic distal segments of scapulae, Abnormal r... OMIM:602196
Short-Rib Thoracic Dysplasia 18 With Polydactyly
Radial bowing, 2-3 toe syndactyly, Postaxial polydactyly, Short ribs, Preaxial polydactyly, Micro... OMIM:617866
Isolated Congenital Hypoglossia/Aglossia
Respiratory distress, Temporomandibular joint ankylosis, Feeding difficulties, Cleft palate, Aspi... ORPHA:141152
Cardiomyopathy, Dilated, 1Hh
Dilated cardiomyopathy, Increased left ventricular end-diastolic volume, Congestive heart failure OMIM:613881
Cardiomyopathy, Dilated, 1Ee
Dilated cardiomyopathy, Increased left ventricular end-diastolic volume, Congestive heart failure OMIM:613252
Weismann-Netter Syndrome
Abnormality of femur morphology, Tibial bowing, Kyphosis, Abnormal morphology of ulna, Abnormal h... ORPHA:3344
Cardiomyopathy, Dilated, 1M
Impaired myocardial contractility, Dilated cardiomyopathy, Increased left ventricular end-diastol... OMIM:607482
Otospondylomegaepiphyseal Dysplasia
Enlarged joints, Cleft palate, Abnormally ossified vertebrae, Platyspondyly, Flared femoral metap... ORPHA:1427
Kyphomelic Dysplasia
Cleft palate, Femoral bowing, Platyspondyly, Micromelia, Pterygium, Dumbbell-shaped humerus, Thor... OMIM:211350
Smith-Mccort Dysplasia 1
Metaphyseal irregularity, Multicentric femoral head ossification, Kyphosis, Beaking of vertebral ... OMIM:607326
Cardiomyopathy, Dilated, 1P
Reduced systolic function, Dilated cardiomyopathy, Ventricular arrhythmia, Congestive heart failure OMIM:609909
Trigonobrachycephaly, Bulbous Bifid Nose, Micrognathia, And Abnormalities Of The Hands And Feet
Bulbous nose, Micrognathia, Bifid nose, Bifid nasal tip, Brachycephaly, Trigonocephaly OMIM:275595
Weismann-Netter Syndrome
Kyphosis, Calvarial hyperostosis, Scoliosis, Fibular bowing, Lateral femoral bowing, Delayed erup... OMIM:112350
Achondrogenesis, Type Ia
Hypoplastic sacrum, Hypoplasia of the radius, Barrel-shaped chest, Micromelia, Talipes equinovaru... OMIM:200600
Thanatophoric Dysplasia, Type I
Narrow chest, Wide-cupped costochondral junctions, Metaphyseal irregularity, Small abnormally for... OMIM:187600
Vitamin D Hydroxylation-Deficient Rickets, Type 1A
Femoral bowing, Delayed eruption of teeth, Thin bony cortex, Bulging of the costochondral junctio... OMIM:264700
Van Den Ende-Gupta Syndrome
High palate, Pectus excavatum, Cleft palate, Craniosynostosis, Femoral bowing, Narrow foot, Taper... OMIM:600920
Osteogenesis Imperfecta, Type Iii
Kyphosis, Tibial bowing, Wide anterior fontanel, Dentinogenesis imperfecta, Recurrent fractures, ... OMIM:259420
Mesomelic Limb Shortening And Bowing
Bowing of the legs, Mesomelic leg shortening, Cleft palate, Retrognathia, Micrognathia, Camptodac... OMIM:249710
Cleidocranial Dysplasia 1
High palate, Respiratory distress, Cone-shaped epiphyses of the phalanges of the hand, Cleft pala... OMIM:119600
Cardiomyopathy, Dilated, 1L
Reduced systolic function, Sudden cardiac death, Increased left ventricular end-diastolic volume,... OMIM:606685
Leri-Weill Dyschondrosteosis
High palate, Hypoplasia of the radius, Abnormality of the humerus, Dorsal subluxation of ulna, Hy... OMIM:127300
Phocomelia-Ectrodactyly, Ear Malformation, Deafness, And Sinus Arrhythmia
Aplasia/Hypoplasia of the thumb, Anterior vertebral fusion, Lateral clavicle hook, Malar flatteni... OMIM:171480
Acro-Renal-Mandibular Syndrome
High palate, Abnormal clavicle morphology, Aplasia/Hypoplasia of the tongue, Hypoplasia of the ra... ORPHA:958
Spondylometaphyseal Dysplasia, Schmidt Type
Platyspondyly, Irregular acetabular roof, Genu valgum, Gastrostomy tube feeding in infancy, Irreg... ORPHA:93316
Cardiomyopathy, Dilated, 1Ff
Dilated cardiomyopathy, Increased left ventricular end-diastolic volume, Congestive heart failure OMIM:613286
Cousin Syndrome
Cleft palate, Rhizomelia, Absent proximal finger flexion creases, Clinodactyly of the 5th finger,... OMIM:260660
Acromesomelic Dysplasia 4
Broad phalanx, Prominent sternum, Platyspondyly, Broad finger, Genu valgum, Rhizomelia, Sandal ga... OMIM:619636
Ophthalmomandibulomelic Dysplasia
Radial bowing, Temporomandibular joint ankylosis, Lateral humeral condyle aplasia, Abnormal thora... OMIM:164900
Pierre Robin Sequence With Facial And Digital Anomalies
Short distal phalanx of finger, Clinodactyly of the 5th finger, Easily subluxated first metacarpo... OMIM:311895
Vitamin D Hydroxylation-Deficient Rickets, Type 1B
Metaphyseal irregularity, Tibial bowing, Delayed epiphyseal ossification, Bowing of the legs, Wid... OMIM:600081
Vitamin D-Dependent Rickets, Type 2A
Femoral bowing, Delayed eruption of teeth, Carious teeth, Thin bony cortex, Bulging of the costoc... OMIM:277440
Marshall Syndrome
Macrodontia of permanent maxillary central incisor, Cleft palate, Clinodactyly of the 4th finger,... OMIM:154780
Short Rib-Polydactyly Syndrome
Cleft palate, Cone-shaped epiphysis, Micromelia, Bowing of the long bones, Respiratory failure, S... ORPHA:1505
Cardiomyopathy, Dilated, 1Z
Sudden cardiac death, Dilated cardiomyopathy, Congestive heart failure OMIM:611879
Growth Delay-Hydrocephaly-Lung Hypoplasia Syndrome
Tibial bowing, Radial bowing, Abnormally ossified vertebrae, Intestinal malrotation, Micrognathia... ORPHA:3035
Metaphyseal Acroscyphodysplasia
Cone-shaped epiphyses of the phalanges of the hand, Craniosynostosis, Platyspondyly, Biconcave ve... OMIM:250215
Shox-Related Short Stature
Forearm undergrowth, High palate, Tibial bowing, Micrognathia, Scoliosis, Genu valgum, Cubitus va... ORPHA:314795
Spondyloepimetaphyseal Dysplasia, Missouri Type
Metaphyseal irregularity, Tibial bowing, Femoral bowing, Flared metaphysis, Genu varum, Flattened... ORPHA:93356
Vitamin D-Dependent Rickets, Type 2B, With Normal Vitamin D Receptor
Rickets of the lower limbs, Metaphyseal irregularity, Tibial bowing, Delayed epiphyseal ossificat... OMIM:600785
Ritscher-Schinzel Syndrome 3
Wide anterior fontanel, Shortening of all distal phalanges of the fingers, Short 1st metacarpal, ... OMIM:619135
Langer Mesomelic Dysplasia
Radial bowing, Lumbar hyperlordosis, Hypoplasia of the radius, Broad ulna, Short tibia, Micrognat... OMIM:249700
Campomelic Dysplasia
Poorly ossified cervical vertebrae, Kyphosis, Small abnormally formed scapulae, Tibial bowing, Ta... ORPHA:140
Acromesomelic Dysplasia 2C
Distal femoral bowing, Radial bowing, Hypoplasia of the radius, Short tibia, Shortening of all pr... OMIM:201250
Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly
High palate, Cleft palate, Short uvula, Micromelia, Microdontia, Bowing of the long bones, Short ... OMIM:614091
Fibrochondrogenesis
Narrow chest, Narrow mouth, Wide anterior fontanel, Cleft palate, Short ribs, Camptodactyly of fi... ORPHA:2021
Orofaciodigital Syndrome Iii
Kyphosis, Pectus excavatum, Short sternum, Supernumerary tooth, Bifid tongue, Bifid uvula, Microd... OMIM:258850
Robin Sequence-Oligodactyly Syndrome
Clinodactyly of the 5th finger, Abnormal morphology of ulna, Hand oligodactyly, Cleft palate, Glo... ORPHA:3104
Sternum, Premature Obliteration Of Sutures Of
Premature sternal synostosis, Micrognathia, Short sternum OMIM:184800
Cardiomyopathy, Dilated, 1K
Dilated cardiomyopathy, Gallop rhythm, Congestive heart failure OMIM:605582
Cortical Blindness, Retardation, And Postaxial Polydactyly
Frontal bossing, Short nose, Microretrognathia OMIM:218010
Campomelic Dysplasia
Poorly ossified cervical vertebrae, High palate, Respiratory distress, Apnea, Cleft palate, Femor... OMIM:114290
Developmental Malformations-Deafness-Dystonia Syndrome
Kyphosis, Macroglossia, Femoral retroversion, Scoliosis, Micromelia, Oral cleft, Death in early a... ORPHA:79107
Osteogenesis Imperfecta, Type Viii
Femoral bowing, Barrel-shaped chest, Platyspondyly, Osteopenia, Decreased calvarial ossification,... OMIM:610915
Fibular Hemimelia
Craniosynostosis, Talipes equinovalgus, Structural foot deformity, Arthralgia of the hip, Abnorma... ORPHA:93323
Cardiomyopathy, Dilated, 1J
Abnormal left ventricular function, Dilated cardiomyopathy, Congestive heart failure, Sudden card... OMIM:605362
Postaxial Oligodactyly, Tetramelic
Aplasia of the 5th metacarpal, Radial bowing, Lunate-triquetral fusion, Absent fifth metatarsal, ... OMIM:176240
Grant Syndrome
Micrognathia, Tibial bowing, Down-sloping shoulders, Wormian bones OMIM:138930
Osteogenesis Imperfecta, Type Ii
Recurrent fractures, Tibial bowing, Thin ribs, Respiratory insufficiency, Platyspondyly, Crumpled... OMIM:166210
Multiple Synostoses Syndrome 1
Pectus excavatum, Short sternum, Clinodactyly of the 4th toe, Short philtrum, Symphalangism affec... OMIM:186500
Antley-Bixler Syndrome Without Genital Anomalies Or Disordered Steroidogenesis
Narrow chest, Wide anterior fontanel, Malar flattening, Flexion contracture, Arachnodactyly, Femo... OMIM:207410
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 1, With Or Without Fractures
High palate, Cleft palate, Delayed proximal femoral epiphyseal ossification, Platyspondyly, 11 pa... OMIM:271640
Metaphyseal Chondrodysplasia, Schmid Type
Metaphyseal sclerosis, Femoral bowing, Distal tibial bowing, Platyspondyly, Irregular acetabular ... OMIM:156500
Pelviscapular Dysplasia
Mesomelic leg shortening, Short femur, Hypoplastic ilia, Congenital hip dislocation, Brachydactyl... ORPHA:93333
Hypocalcemic Vitamin D-Dependent Rickets
Delayed epiphyseal ossification, Tibial bowing, Subperiosteal bone resorption, Sparse bone trabec... ORPHA:289157
Cardiomyopathy, Dilated, 1B
Impaired myocardial contractility, Dilated cardiomyopathy, Ventricular arrhythmia, Congestive hea... OMIM:600884
Cardiac Lipidosis, Familial
Cardiomyopathy, Congestive heart failure OMIM:212080
Tarp Syndrome
High palate, Pectus excavatum, Short sternum, Talipes equinovarus, Cleft palate, Postaxial polyda... OMIM:311900
Catel-Manzke Syndrome
Joint stiffness, Clinodactyly of the 5th finger, Pectus excavatum, Radial deviation of the 2nd fi... ORPHA:1388
Hypophosphatemic Rickets With Hypercalciuria, Hereditary
Metaphyseal irregularity, Tibial bowing, Delayed epiphyseal ossification, Bowing of the legs, Wid... OMIM:241530
Melnick-Needles Syndrome
Cone-shaped epiphyses of the phalanges of the hand, Pectus excavatum, Cleft palate, Delayed erupt... OMIM:309350
Metaphyseal Chondrodysplasia, Spahr Type
Metaphyseal dysplasia, Reduced bone mineral density, Abnormality of the dentition, Scoliosis, Gen... ORPHA:2501
Cardiomyopathy, Dilated, 2A
Dilated cardiomyopathy, Increased left ventricular end-diastolic volume, Congestive heart failure OMIM:611880
Microphthalmia With Limb Anomalies
High palate, Cleft upper lip, Tibial bowing, Talipes equinovarus, Hand oligodactyly, Cleft palate... OMIM:206920
Fibular Aplasia Or Hypoplasia, Femoral Bowing And Poly-, Syn-, And Oligodactyly
Aplasia/Hypoplasia of the ulna, Hypoplasia of the radius, Femoral bowing, Congenital hip dislocat... OMIM:228930
Stuve-Wiedemann Syndrome 1
Enlarged joints, Apnea, Pursed lips, Femoral bowing, Ulnar deviation of finger, Carious teeth, Si... OMIM:601559
Sensorineural Deafness With Dilated Cardiomyopathy
Dilated cardiomyopathy, Congestive heart failure, Abnormal cardiac ventricular function ORPHA:217622
Phocomelia-Ectrodactyly-Deafness-Sinus Arrhythmia Syndrome
Ectrodactyly, Upper limb phocomelia, Radial club hand, Short humerus, Long philtrum, Hypoplasia o... ORPHA:2878
Odontochondrodysplasia
Narrow chest, Respiratory distress, Dentinogenesis imperfecta, Retrognathia, Cone-shaped epiphysi... ORPHA:166272
Osteoglophonic Dysplasia
High palate, Respiratory distress, Broad phalanx, Craniosynostosis, Platyspondyly, Rhizomelia, Bo... OMIM:166250
Osteopathia Striata-Pigmentary Dermopathy-White Forelock Syndrome
Abnormal pelvic girdle bone morphology, Abnormal metaphysis morphology, Coarse metaphyseal trabec... ORPHA:2779
Multiple Epiphyseal Dysplasia, Lowry Type
Dislocated radial head, Epiphyseal dysplasia, Fragmented epiphyses, Delayed epiphyseal ossificati... ORPHA:166016
Momo Syndrome
High palate, Dental malocclusion, Thick upper lip vermilion, Taurodontia, Short sternum, Abnormal... ORPHA:2563
Blount Disease
Tibial bowing, Abnormal tibial metaphysis morphology, Abnormality of the proximal tibial epiphysi... ORPHA:2768
Odontochondrodysplasia 1
Respiratory distress, Cone-shaped epiphyses of the phalanges of the hand, Platyspondyly, Micromel... OMIM:184260
Rhizomelic Skeletal Dysplasia With Or Without Pelger-Huet Anomaly
Femoral bowing, Platyspondyly, Broad hallux, Genu valgum, Rhizomelia, Ovoid vertebral bodies, Sho... OMIM:618019
Renal Dysplasia-Limb Defects Syndrome
Aplasia of the ulna, High palate, Narrow mouth, Respiratory distress, Short sternum, Short metaca... OMIM:266910
Kniest-Like Dysplasia With Pursed Lips And Ectopia Lentis
High palate, Joint stiffness, Tibial bowing, Narrow mouth, Pursed lips, Flexion contracture, Abse... OMIM:245160
Metaphyseal Anadysplasia
Joint stiffness, Abnormal morphology of ulna, Abnormal ulnar metaphysis morphology, Aplasia/Hypop... ORPHA:1040
Spondyloepiphyseal Dysplasia With Congenital Joint Dislocations
High palate, Barrel-shaped chest, Hypoplasia of the capital femoral epiphysis, Delayed eruption o... OMIM:143095
Lethal Recessive Chondrodysplasia
Narrow chest, Respiratory distress, Macroglossia, Micrognathia, Micromelia, Limb undergrowth, Gen... ORPHA:1423
Long Qt Syndrome 13
Torsade de pointes, Permanent atrial fibrillation, Palpitations, Pulmonary embolism, Syncope, Pro... OMIM:613485
Hydrocephalus With Associated Malformations
Tibial bowing, Intestinal malrotation, Micrognathia, Short lower limbs, Abnormal foot morphology,... OMIM:236640
Left Ventricular Noncompaction 10
Increased left ventricular end-diastolic volume, Syncope, Dilated cardiomyopathy, Pulmonary arter... OMIM:615396
Crane-Heise Syndrome
Short distal phalanx of finger, Joint stiffness, Talipes equinovarus, Cleft palate, Abnormally os... ORPHA:1512
Adenylosuccinate Lyase Deficiency
Microcephaly, Flat occiput, Short nose, Anteverted nares, Brachycephaly ORPHA:46
Robinow Syndrome, Autosomal Recessive 1
Dental crowding, Wide mouth, Pectus excavatum, Triangular mouth, Hypoplastic sacrum, Hypoplasia o... OMIM:268310
Hypophosphatemic Rickets, X-Linked Dominant
Metaphyseal irregularity, Tibial bowing, Bowing of the legs, Trapezoidal distal femoral condyles,... OMIM:307800
Congenital Radioulnar Synostosis
Dislocated radial head, Abnormality of the musculature of the upper arm, Limited pronation/supina... ORPHA:3269
Short-Rib Thoracic Dysplasia 12
Lobulated tongue, Median cleft lip and palate, Short long bone, Short ribs, Bowing of the arm, Hy... OMIM:269860
Left Ventricular Noncompaction 8
Mitral regurgitation, Arrhythmia, Dilated cardiomyopathy, Left ventricular systolic dysfunction, ... OMIM:615373
Dystonia, Juvenile-Onset
Cleft upper lip, Kyphoscoliosis, Pseudobulbar paralysis, Cleft palate, Hypoplastic scapulae, Dysp... OMIM:607371
Schneckenbecken Dysplasia
Narrow chest, Hypoplastic vertebral bodies, Lateral clavicle hook, Cleft palate, Short ribs, Incr... ORPHA:3144
Satb2-Associated Syndrome Due To A Chromosomal Rearrangement
High palate, Slender finger, Cleft palate, Abnormality of the dentition, Short philtrum, Osteopen... ORPHA:251028
Peroxisome Biogenesis Disorder 10A (Zellweger)
High palate, Feeding difficulties, Micrognathia, Death in infancy, Epiphyseal stippling OMIM:614882
Pallister W Syndrome
Radial bowing, Agenesis of central incisor, Joint contracture of the hand, Pes cavus, Camptodacty... OMIM:311450
W Syndrome
Radial bowing, Pes cavus, Camptodactyly, Hypoplasia of the ulna, Pes planus, Broad uvula, Cubitus... ORPHA:2804
Pelvis-Shoulder Dysplasia
Short clavicles, Clinodactyly of the 5th finger, Lumbar hyperlordosis, Hypoplastic ilia, Congenit... OMIM:169550
Cardiomyopathy, Dilated, 1I
Dilated cardiomyopathy, Congestive heart failure, Reduced systolic function OMIM:604765
Ulnar Hypoplasia
Ulnar deviation of the hand, Radial bowing, Hypoplasia of the radius, Hypoplasia of the ulna, Rad... OMIM:191440
Cardiomyopathy, Dilated, 1Bb
Left bundle branch block, Dilated cardiomyopathy, Increased left ventricular end-diastolic volume... OMIM:612877
Cardiomyopathy, Dilated, 1U
Left bundle branch block, Increased left ventricular end-diastolic volume, Syncope, Dilated cardi... OMIM:613694
Arthrogryposis, Distal, Type 7
Talipes equinovarus, Feeding difficulties, Micrognathia, Cutaneous syndactyly of toes, Hammertoe,... OMIM:158300
Blount Disease, Adolescent
Bowing of the legs, Osteochondritis dissecans, Genu varum OMIM:259200
Congenital Insensitivity To Pain With Severe Intellectual Disability
Recurrent fractures, Tibial bowing, Osteomyelitis, Micrognathia, Talipes equinovalgus, Congenital... ORPHA:453510
Orofaciodigital Syndrome Type 3
Pectus excavatum, Short sternum, Abnormality of the dentition, Bifid uvula, Lobulated tongue, Pos... ORPHA:2752
Short Stature, Amelogenesis Imperfecta, And Skeletal Dysplasia With Scoliosis
High palate, Cleft palate, Carious teeth, Genu valgum, Small epiphyses, Thoracic hypoplasia, Shor... OMIM:618363
Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 1
Clinodactyly of the 5th finger, Radial bowing, Limited pronation/supination of forearm, Proximal ... OMIM:605432
Thrombocytopenia-Absent Radius Syndrome
Absent thumb, Cleft palate, Hypoplasia of the radius, Femoral bowing, Hypoplasia of the ulna, Pat... OMIM:274000
Phocomelia, Schinzel Type
Aplasia of the ulna, Ectrodactyly, Anal atresia, Radial bowing, High, narrow palate, Hand oligoda... ORPHA:2879
Spondylo-Megaepiphyseal-Metaphyseal Dysplasia
Coxa vara, Metaphyseal dysplasia, Metaphyseal irregularity, Flexion contracture, Short ribs, Abno... OMIM:613330
Bowen-Conradi Syndrome
Joint stiffness, Clinodactyly of the 5th finger, Micrognathia, Camptodactyly of finger, Oral clef... ORPHA:1270
Pelvis-Shoulder Dysplasia
Cleft palate, Absent proximal finger flexion creases, Talipes equinovarus, Aplasia/Hypoplasia of ... ORPHA:2839
Mucolipidosis Ii Alpha/Beta
Wide mouth, Pectus excavatum, Craniosynostosis, Osteopenia, Bullet-shaped phalanges of the hand, ... OMIM:252500
Brachymesomelia-Renal Syndrome
Hypoplasia of the radius, Micrognathia, Single transverse palmar crease, Mesomelic arm shortening... OMIM:113470
Ulna Metaphyseal Dysplasia Syndrome
Abnormal morphology of ulna, Abnormal hip bone morphology, Abnormality of the dentition, Abnormal... ORPHA:1837
Stuve-Wiedemann Syndrome 2
Respiratory distress, Short long bone, Scoliosis, Neonatal death, Death in adolescence, Camptodac... OMIM:619751
Cardiomyopathy, Dilated, 1O
Impaired myocardial contractility, Dilated cardiomyopathy, Ventricular tachycardia, Congestive he... OMIM:608569
Osteosclerosis-Developmental Delay-Craniosynostosis Syndrome
Macrocephaly, Craniosynostosis, Broad jaw, Thickened calvaria, Brachycephaly ORPHA:178377
Humerofemoral Hypoplasia With Radiotibial Ray Deficiency
Short clavicles, Absent thumb, Bilateral talipes equinovarus, Retrognathia, Hypoplastic pelvis, H... OMIM:618022
Perching Syndrome
Respiratory distress, High palate, Feeding difficulties, Flexion contracture, Camptodactyly, Dysp... OMIM:617055
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14
Flexion contracture of thumb, Pectus excavatum, Prominent sternum, Miscarriage, Absent glenoid fo... ORPHA:96334
Leri-Weill dyschondrostosis (LWD) - SHOX deletion
Radial bowing, Limited pronation/supination of forearm, Madelung deformity DECIPHER:58
Cartilage-Hair Hypoplasia
Abnormally ossified vertebrae, Micromelia, Pectus carinatum, Rhizomelia, Abnormal epiphysis morph... ORPHA:175
Atelosteogenesis, Type Ii
Lacunar halos around chondrocytes, Cleft palate, Platyspondyly, Micromelia, Sandal gap, Thoracic ... OMIM:256050
Spondylometaphyseal Dysplasia, 'Corner Fracture' Type
High palate, Corner fracture of metaphysis, Abnormality of the dentition, Platyspondyly, Biconcav... ORPHA:93315
Momo Syndrome
High palate, Dental malocclusion, Taurodontia, Short sternum, Long philtrum, Delayed eruption of ... OMIM:157980
Acrorenal-Mandibular Syndrome
High palate, Hypoplasia of the radius, Hemivertebrae, Rudimentary fibula, Hypoplasia of the ulna,... OMIM:200980
Dyschondrosteosis And Nephritis
Radial bowing, Short tibia, Madelung deformity, Ulnar bowing, Short forearm OMIM:127350
Metaphyseal Chondrodysplasia, Schmid Type
Femoral bowing, Platyspondyly, Short long bone, Metaphyseal cupping of proximal phalanges, Metaph... ORPHA:174
Acromesomelic Dysplasia 1
Broad phalanx, Cone-shaped epiphyses of the phalanges of the hand, Thoracolumbar interpediculate ... OMIM:602875
Metatropic Dysplasia
Enlarged joints, Halberd-shaped pelvis, Cone-shaped epiphysis, Platyspondyly, Hyperplasia of the ... OMIM:156530
Intellectual Developmental Disorder, Autosomal Recessive 27
Failure to thrive, Depressed nasal bridge, Microcephaly, Midface retrusion OMIM:614340
Tibial Torsion, Bilateral Medial
Bowing of the legs, Scoliosis, Tibial torsion OMIM:188800
Non-Distal Trisomy 10Q
Convex nasal ridge, Depressed nasal bridge, Micrognathia, Microcephaly, Frontal bossing, Short no... ORPHA:1695
Baller-Gerold Syndrome
High palate, Cleft palate, Hypoplasia of the radius, Hypoplasia of the ulna, Sagittal craniosynos... OMIM:218600
Marshall-Smith Syndrome
High palate, Apnea, Airway obstruction, Pectus excavatum, Short sternum, Slender finger, Prominen... OMIM:602535
Dyschondrosteosis-Nephritis Syndrome
Radial bowing, Micromelia, Microdontia, Aplasia/Hypoplasia of the radius, Madelung deformity, Uln... ORPHA:1765
Congenital Hemidysplasia With Ichthyosiform Erythroderma And Limb Defects
Congenital hip dislocation, Single transverse palmar crease, Hypoplastic pelvis, Aplasia of the d... OMIM:308050
Tarp Syndrome
Alveolar ridge overgrowth, Hypoplasia of proximal radius, Apnea, Widely patent fontanelles and su... ORPHA:2886
Microphthalmia With Limb Anomalies
High palate, Cleft palate, Macrodontia, Abnormality of the upper limb, Sandal gap, Hypoplasia of ... ORPHA:1106
Diaphanospondylodysostosis
Respiratory distress, Enlarged thorax, Cleft palate, Abnormal vertebral segmentation and fusion, ... ORPHA:66637
Congenital Disorder Of Glycosylation, Type Iy
Respiratory distress, Wide mouth, Joint dislocation, Feeding difficulties, Micrognathia, Scoliosi... OMIM:300934
Epiphyseal Dysplasia, Multiple, 2
Epiphyseal dysplasia, Tooth agenesis, Irregular epiphyses, Flattened epiphysis, Genu varum, Osteo... OMIM:600204
Arthrogryposis, Distal, Type 1C
High palate, Pursed lips, Cleft palate, Rocker bottom foot, Clinodactyly of the 5th finger, Talip... OMIM:619110
Cardiomyopathy, Familial Hypertrophic, 15
Apical hypertrophic cardiomyopathy, Hypertrophic cardiomyopathy, Left ventricular outflow tract o... OMIM:613255
Pierre Robin Syndrome And Oligodactyly
Pierre-Robin sequence, Micrognathia, Cleft palate, Hand oligodactyly OMIM:172880
Spondylometaphyseal Dysplasia, East African Type
Coxa vara, Metaphyseal spurs, Metaphyseal widening, Brachydactyly, Genu varum, Rounded epiphyses,... OMIM:611702
Mueller-Weiss Syndrome
Talipes calcaneovarus, Edema of the dorsum of feet, Joint stiffness, Sclerosis of foot bone, Limi... ORPHA:566943
Hypophosphatemic Rickets, X-Linked Recessive
Metaphyseal irregularity, Tibial bowing, Delayed epiphyseal ossification, Bowing of the legs, Rec... OMIM:300554
Heart-Hand Syndrome Type 2
Abnormal palate morphology, Joint stiffness, Abnormal clavicle morphology, Abnormal morphology of... ORPHA:1350
Spondyloepimetaphyseal Dysplasia With Joint Laxity
High palate, Cleft palate, Platyspondyly, Pectus carinatum, Ulnar deviation of finger, Abnormal e... ORPHA:93359
Spondylometaphyseal Dysplasia, Corner Fracture Type
Coxa vara, Metaphyseal irregularity, Scoliosis, Short femoral neck, Genu varum, Pectus carinatum,... OMIM:184255
Hyperinsulinemic Hypoglycemia, Familial, 2
Pancreatic islet-cell hyperplasia, Nesidioblastosis OMIM:601820
Carvajal Syndrome
Dilated cardiomyopathy, Congestive heart failure ORPHA:65282
Kyphomelic Dysplasia
Narrow chest, Joint stiffness, Undulate ribs, Micrognathia, Anterior rib cupping, Abnormal form o... ORPHA:1801
Neurogenic Arthrogryposis Multiplex Congenita
Respiratory distress, Respiratory insufficiency due to muscle weakness, Hip contracture, Feeding ... ORPHA:1143
Arrhythmogenic Right Ventricular Dysplasia, Familial, 5
Prolonged QRS complex, Premature ventricular contraction, Right ventricular cardiomyopathy, Presy... OMIM:604400
Spondyloepimetaphyseal Dysplasia, Strudwick Type
Metaphyseal irregularity, Coxa vara, Narrow greater sciatic notch, Club-shaped proximal femur, Cl... OMIM:184250
Cardiomyopathy, Dilated, 2B
Atrial fibrillation, Dilated cardiomyopathy, Congestive heart failure OMIM:614672
Cardiomyopathy, Familial Hypertrophic, 1
Asymmetric septal hypertrophy, Arrhythmia, Congestive heart failure OMIM:192600
Grant Syndrome
Sprengel anomaly, Narrow chest, Abnormal palate morphology, Joint dislocation, Open bite, Abnorma... ORPHA:2097
X-Linked Intellectual Disability, Sutherland-Haan Type
Decreased body weight, Small for gestational age, Microcephaly, Hypoplasia of the maxilla, Mandib... ORPHA:93950
Developmental And Epileptic Encephalopathy 73
Failure to thrive, Inguinal hernia, Flexion contracture, Microcephaly, Narrow nasal bridge, Short... OMIM:618379
Bowen-Conradi Syndrome
Micrognathia, Abnormal joint morphology, Clinodactyly of the 5th finger, Rocker bottom foot OMIM:211180
Familial Progressive Cardiac Conduction Defect
Bundle branch block, Arrhythmia, Syncope, Heart block, Congestive heart failure ORPHA:871
Acrorenal Syndrome
Abnormal morphology of ulna, Cleft palate, Micrognathia, Abnormality of tibia morphology, Aplasia... ORPHA:971
Osteosclerosis With Ichthyosis And Fractures
Recurrent fractures, Tibial bowing, Cortical thickening of long bone diaphyses, Increased bone mi... OMIM:166740
Scarf Syndrome
Short sternum, Craniosynostosis, Long philtrum, Abnormal form of the vertebral bodies, Pectus car... ORPHA:3134
Autosomal Recessive Hypophosphatemic Rickets
Craniosynostosis, Delayed eruption of teeth, Polyarticular arthritis, Sclerotic vertebral endplat... ORPHA:289176
Geroderma Osteodysplasticum
Irregular vertebral endplates, Beaking of vertebral bodies, Tibial bowing, Kyphoscoliosis, Period... OMIM:231070
Turnpenny-Fry Syndrome
High palate, Pectus excavatum, Short sternum, Abnormality of the dentition, Microdontia, Tapered ... OMIM:618371
Short-Rib Thoracic Dysplasia 16 With Or Without Polydactyly
Short distal phalanx of finger, Narrow chest, Cone-shaped epiphyses of the phalanges of the hand,... OMIM:617102
Cardiomyopathy, Dilated, 1Gg
Dilated cardiomyopathy, Cardiogenic shock, Congestive heart failure OMIM:613642
Upper Limb Mesomelic Dysplasia
Hypoplasia of the ulna, Radial bowing, Ulnar deviation of finger ORPHA:2497
Autosomal Dominant Otospondylomegaepiphyseal Dysplasia
Pectus excavatum, Cleft palate, Malar flattening, Glossoptosis, Micrognathia, Osteoarthritis, Lon... ORPHA:166100
Diastrophic Dysplasia
Cervical kyphosis, Hip contracture, Kyphoscoliosis, Lumbar hyperlordosis, Hypoplastic cervical ve... OMIM:222600
Spondyloepimetaphyseal Dysplasia, Shohat Type
Metaphyseal irregularity, Delayed epiphyseal ossification, Coxa vara, Lumbar hyperlordosis, Abdom... OMIM:602557
Craniosynostosis, Calcification Of Basal Ganglia, And Facial Dysmorphism
Microcephaly, Prominent nasal bridge, Hypoplasia of the maxilla, Craniosynostosis OMIM:608432
Caffey Disease
Bowing of the legs, Tibial bowing, Periosteal thickening of long tubular bones, Calvarial hyperos... OMIM:114000
Robin Sequence With Cleft Mandible And Limb Anomalies
High palate, Cleft palate, Hypoplasia of the radius, Hip subluxation, Clinodactyly of the 5th fin... OMIM:268305
Ghosal Hematodiaphyseal Dysplasia
Abnormality of femur morphology, Craniofacial hyperostosis, Abnormal form of the vertebral bodies... ORPHA:1802
Pyle Disease
Metaphyseal dysplasia, Reduced bone mineral density, Metaphyseal widening, Platyspondyly, Scolios... OMIM:265900
Pierre Robin Syndrome
Cleft palate, Glossoptosis, Micrognathia, Feeding difficulties in infancy, Upper airway obstructi... OMIM:261800
Aase-Smith Syndrome
Joint stiffness, Multiple joint contractures, Talipes equinovarus, Slender finger, Cleft palate, ... ORPHA:916
Cardiomyopathy, Dilated, 1C, With Or Without Left Ventricular Noncompaction
Left bundle branch block, Sudden cardiac death, Ventricular arrhythmia, Increased left ventricula... OMIM:601493
Langer Mesomelic Dysplasia
High palate, Abnormal morphology of ulna, Aplasia/Hypoplasia of the fibula, Micromelia, Short fem... ORPHA:2632
17Q21.31 Microduplication Syndrome
Failure to thrive, Malar flattening, Micrognathia, Microcephaly, Short nose, Anteverted nares ORPHA:217340
Cornelia De Lange Syndrome 1
High palate, Malrotation of colon, Short sternum, Hiatus hernia, Cleft palate, Hypoplasia of the ... OMIM:122470
Ulbright-Hodes Syndrome
Aplasia/Hypoplasia of the ulna, High palate, Respiratory distress, Short sternum, Hypoplasia of t... ORPHA:3404
Brachydactyly-Mesomelia-Intellectual Disability-Heart Defects Syndrome
Tooth agenesis, Micrognathia, Brachydactyly, Long thorax, Mesomelia, Abnormal shoulder morphology... ORPHA:1277
Acrocapitofemoral Dysplasia
Cone-shaped epiphyses of the phalanges of the hand, Pectus excavatum, Hypoplasia of the radius, C... OMIM:607778
Pseudoachondroplasia
Irregular carpal bones, Cone-shaped epiphysis, Platyspondyly, Hypoplasia of the capital femoral e... ORPHA:750
Symbrachydactyly Of Hands And Feet
Vertebral segmentation defect, Abnormality of the humeroulnar joint, Abnormal morphology of ulna,... ORPHA:1570
Ulna And Fibula, Absence Of, With Severe Limb Deficiency
High palate, Prominent sternum, Elbow ankylosis, Hypoplasia of the radius, Femoral bowing, Hemive... OMIM:276820
Cleidocranial Dysplasia, Recessive Form
Brachycephaly OMIM:216330
Cardiomyopathy, Dilated, 1V
Left bundle branch block, Increased left ventricular end-diastolic volume, Syncope, Dilated cardi... OMIM:613697
Epiphyseal Dysplasia, Multiple, With Severe Proximal Femoral Dysplasia
Coxa vara, Epiphyseal dysplasia, Flat distal femoral epiphysis, Abnormality of the hand, Platyspo... OMIM:609324
Spondylometaphyseal Dysplasia, Type A4
Sclerotic humeral metaphysis, Metaphyseal irregularity, Costochondral joint sclerosis, Broad isch... OMIM:609052
Bartsocas-Papas Syndrome 1
Short metacarpal, Absent thumb, Cleft palate, Hypoplasia of the maxilla, Pterygium, Cleft upper l... OMIM:263650
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency
Constipation, Elbow ankylosis, Craniosynostosis, Femoral bowing, Radioulnar synostosis, Bowing of... ORPHA:95699
Mental Retardation, X-Linked, With Craniofacial Dysmorphism
Frontal bossing, Plagiocephaly, Brachycephaly OMIM:300064
Mesomelic Dwarfism-Cleft Palate-Camptodactyly Syndrome
Vertebral segmentation defect, Cleft palate, Abnormal hip bone morphology, Retrognathia, Thin ver... ORPHA:2631
Satb2-Associated Syndrome Due To A Pathogenic Variant
High palate, Clinodactyly of the 5th finger, Gastroesophageal reflux, Cleft palate, Micrognathia,... ORPHA:576283
Pyknoachondrogenesis
Enlarged thorax, Sclerosis of skull base, Abnormal iliac wing morphology, Abdominal distention, S... ORPHA:3003
Nephrosis With Deafness And Urinary Tract And Digital Malformations
Short distal phalanx of the thumb, Partial duplication of the distal phalanx of the hallux, Bifid... OMIM:256200
Incessant Infant Ventricular Tachycardia
Bundle branch block, Wolff-Parkinson-White syndrome, Supraventricular tachycardia, Prolonged QRS ... ORPHA:45453
Trochlea Of The Humerus, Aplasia Of
Short humerus, Cleft palate OMIM:191000
Nephrosis-Deafness-Urinary Tract-Digital Malformations Syndrome
Partial duplication of the distal phalanx of the hallux, Bifid uvula, Broad hallux, Abnormal thum... ORPHA:2669
Hypochondroplasia
Lumbar hyperlordosis, Aplasia/hypoplasia of the extremities, Malar flattening, Flared metaphysis,... OMIM:146000
Lethal Kniest-Like Dysplasia
Narrow chest, Wide anterior fontanel, Hypoplastic vertebral bodies, Talipes equinovarus, Abnormal... ORPHA:2347
Spondyloepimetaphyseal Dysplasia, Di Rocco Type
Bowing of the legs, Metaphyseal dysplasia, Delayed ossification of carpal bones, Reduced bone min... OMIM:617974
Spondyloepimetaphyseal Dysplasia Congenita, Strudwick Type
Laryngotracheomalacia, Delayed ossification of carpal bones, Abnormally ossified vertebrae, Gloss... ORPHA:93346
Achondrogenesis, Type Ii
Abdominal distention, Cleft palate, Short ribs, Barrel-shaped chest, Short tubular bones of the h... OMIM:200610
Dysspondyloenchondromatosis
Enlarged joints, Vertebral segmentation defect, Kyphoscoliosis, Joint dislocation, Generalized jo... ORPHA:85198
Mesomelic Dysplasia, Kantaputra Type
Mesomelia, Carpal synostosis, Radial bowing, Tarsal synostosis OMIM:156232
Dent Disease 1
Metaphyseal irregularity, Tibial bowing, Delayed epiphyseal ossification, Bowing of the legs, Rec... OMIM:300009
Mitochondrial Complex I Deficiency, Nuclear Type 30
Neonatal death, Congestive heart failure OMIM:301021
Chromosome 17Q23.1-Q23.2 Duplication Syndrome
Talipes equinovarus, Hip dysplasia, Genu valgum, Coxa valga, Acetabular dysplasia OMIM:613618
Cardiomyopathy, Dilated, 1G
Premature atrial contractions, Dilated cardiomyopathy, Ventricular tachycardia, Atrial fibrillati... OMIM:604145
Spondyloepimetaphyseal Dysplasia, Borochowitz-Cormier-Daire Type
Bowing of the legs, Lumbar hyperlordosis, Metaphyseal spurs, Dysplastic iliac wing, Narrow greate... OMIM:608728
Congenital Arthrogryposis With Anterior Horn Cell Disease
High palate, Kyphosis, Talipes equinovarus, Hand clenching, Feeding difficulties, Areflexia of lo... OMIM:611890
Acromesomelic Dysplasia 2A
Stillbirth, Flexion contracture, Short femur, Hypoplasia of the radius, Short tibia, Short humeru... OMIM:200700
Rhyns Syndrome
Osteopenia, Radial bowing, Brachydactyly, Short femoral neck OMIM:602152
Cardiomyopathy, Dilated, 1Kk
Mitral regurgitation, Increased left ventricular end-diastolic volume, Dilated cardiomyopathy, At... OMIM:615248
Myopathy, Areflexia, Respiratory Distress, And Dysphagia, Early-Onset
High palate, Respiratory distress, Pectus excavatum, Talipes equinovarus, Gastroesophageal reflux... OMIM:614399
Schinzel-Giedion Midface Retraction Syndrome
Short distal phalanx of finger, Tibial bowing, Widely patent fontanelles and sutures, Short stern... OMIM:269150
Intellectual Developmental Disorder With Nasal Speech, Dysmorphic Facies, And Variable Skeletal Anomalies
Clinodactyly of the 5th finger, 2-3 toe syndactyly, Tooth malposition, Micrognathia, Short 5th fi... OMIM:618608
Multiple Epiphyseal Dysplasia Type 5
Joint stiffness, Multiple small vertebral fractures, Decreased hip abduction, Osteoarthritis of t... ORPHA:93311
Diastrophic Dysplasia
Abnormal clavicle morphology, Cleft palate, Micromelia, Symphalangism affecting the phalanges of ... ORPHA:628
Scarf Syndrome
Short sternum, Coronal craniosynostosis, Barrel-shaped chest, Long philtrum, Abnormal form of the... OMIM:312830
Spondyloepimetaphyseal Dysplasia With Abnormal Dentition
Irregular vertebral endplates, Metaphyseal irregularity, Widely-spaced incisors, Slender finger, ... OMIM:601668
Distal Arthrogryposis Type 1
Joint stiffness, Narrow mouth, Abnormal hip bone morphology, Adducted thumb, Camptodactyly of fin... ORPHA:1146
Epiphyseal Dysplasia, Multiple, 5
Epiphyseal dysplasia, Coxa vara, Metaphyseal irregularity, Delayed tarsal ossification, Delayed o... OMIM:607078
Achondroplasia
Limited hip extension, Bowing of the legs, Lumbar hyperlordosis, Malar flattening, Generalized jo... OMIM:100800
Gnathodiaphyseal Dysplasia
Recurrent fractures, Mandibular osteomyelitis, Osteopenia, Scoliosis, Broad jaw, Bowing of the lo... ORPHA:53697
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 3
High palate, Osteopenia, Platyspondyly, Delayed eruption of teeth, Tapered finger, Flat capital f... OMIM:612350
Chondrodysplasia, Lethal, With Long Bone Angulation And Mixed Bone Density
Short femur, Hypoplasia of the radius, Short tibia, Lytic defects of humeral diaphysis, Absent os... OMIM:601376
Cardiomyopathy, Dilated, 1Nn
Mitral regurgitation, Abnormal ST segment, Ventricular arrhythmia, Increased left ventricular end... OMIM:615916
Cardiomyopathy, Dilated, 1R
Restrictive cardiomyopathy, Ventricular arrhythmia, Increased left ventricular end-diastolic volu... OMIM:613424
Insulin-Like Growth Factor I Deficiency
Radial deviation of finger, Micrognathia, Osteopenia, Clinodactyly OMIM:608747
Multiple Epiphyseal Dysplasia Type 1
Delayed epiphyseal ossification, Coxa vara, Joint stiffness, Limitation of joint mobility, Finger... ORPHA:93308
Cardiomyopathy, Familial Hypertrophic, 14
Left ventricular outflow tract obstruction, Ventricular tachycardia, Right bundle branch block, H... OMIM:613251
Fibrochondrogenesis 2
Metaphyseal cupping, Malar flattening, Short ribs, Hypoplastic ilia, Metaphyseal widening, Platys... OMIM:614524
Chondrodysplasia, Blomstrand Type
Advanced ossification of carpal bones, Malar flattening, Short ribs, Micrognathia, Flared metaphy... OMIM:215045
Imperforate Oropharynx-Costovertebral Anomalies Syndrome
Respiratory distress, Clinodactyly of the 5th finger, Aplasia/Hypoplasia of the tongue, Arachnoda... ORPHA:2759
Fibular Aplasia-Complex Brachydactyly Syndrome
Abnormal morphology of ulna, Abnormal hip bone morphology, Aplasia/Hypoplasia of the fibula, Brac... ORPHA:2639
X-Linked Intellectual Disability-Plagiocephaly Syndrome
Flat occiput, Microcephaly, Plagiocephaly, Brachycephaly ORPHA:2898
Pectus Excavatum, Macrocephaly, Short Stature, And Dysplastic Nails
Macrocephaly, Relative macrocephaly, Malar flattening, Depressed nasal bridge, Midface retrusion OMIM:600399
Restrictive Dermopathy 2
Respiratory distress, Short clavicles, Gastroesophageal reflux, Microretrognathia, Feeding diffic... OMIM:619793
Desbuquois Dysplasia 2
Pectus excavatum, Cleft palate, Cutaneous syndactyly, Monkey wrench femoral neck, Platyspondyly, ... OMIM:615777
Oncogenic Osteomalacia
Abnormality of femur morphology, Tibial bowing, Fibrous dysplasia of the bones, Pathologic fractu... ORPHA:352540
Peroxisome Biogenesis Disorder 8A (Zellweger)
Feeding difficulties in infancy, Death in infancy, Epiphyseal stippling, Glossoptosis OMIM:614876
Arthrogryposis, Distal, Type 3
High palate, Pectus excavatum, Cleft palate, Down-sloping shoulders, Congenital hip dislocation, ... OMIM:114300
Fibular Aplasia, Tibial Campomelia, And Oligosyndactyly Syndrome
Tibial bowing, Hand oligodactyly, Short tibia, Abnormality of the hand, Syndactyly, Foot oligodac... OMIM:246570
Multiple Epiphyseal Dysplasia Due To Collagen 9 Anomaly
Radially deviated wrists, Coxa vara, Reduced arm span, Osteoarthritis, Abnormality of the epiphys... ORPHA:166002
Larsen-Like Osseous Dysplasia-Short Stature Syndrome
Narrow mouth, Clinodactyly of the 5th finger, Reduced bone mineral density, Thin vermilion border... ORPHA:2370
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly
Narrow chest, Respiratory distress, Postaxial polydactyly, Hypoplasia of the radius, Hypoplastic ... OMIM:617895
Achondrogenesis, Type Ib
Narrow chest, Abdominal distention, Malar flattening, Short ribs, Hypoplastic ilia, Respiratory i... OMIM:600972
Intellectual Developmental Disorder, Autosomal Dominant 26
Prominent nasal tip, Inguinal hernia, Small for gestational age, Depressed nasal bridge, Microgna... OMIM:615834
Severe Achondroplasia-Developmental Delay-Acanthosis Nigricans Syndrome
Tibial bowing, Abnormal clavicle morphology, Femoral bowing, Fibular bowing, Aplasia/Hypoplasia o... ORPHA:85165
Endosteal Hyperostosis, Worth Type
Craniofacial hyperostosis, Torus palatinus, Clavicular sclerosis, Abnormal form of the vertebral ... ORPHA:2790
Cardiomyopathy, Dilated, 2F
Increased left ventricular end-diastolic volume, Dilated cardiomyopathy, Ventricular fibrillation... OMIM:619747
Chromosome 16P11.2 Deletion Syndrome, 593-Kb
Micrognathia, Macrocephaly, Midface retrusion OMIM:611913
Rhizomelic Chondrodysplasia Punctata, Type 3
Rhizomelia, Short humerus, Epiphyseal stippling, Short femur OMIM:600121
Cerebrooculofacioskeletal Syndrome 3
Talipes equinovarus, Cleft palate, Micrognathia, Arthrogryposis multiplex congenita, Rocker botto... OMIM:616570
Rhizomelic Syndrome, Urbach Type
Short distal phalanx of finger, Kyphosis, High palate, Abnormality of the tongue, Wide anterior f... ORPHA:3098
Autosomal Recessive Cerebellar Ataxia-Epilepsy-Intellectual Disability Syndrome Due To Tud Deficiency
Brachycephaly ORPHA:404493
Dyggve-Melchior-Clausen Disease
Broad carpal bones, Platyspondyly, Abnormality of the ankles, Abnormal femoral head morphology, H... ORPHA:239
Boomerang Dysplasia
Narrow chest, Abnormality of femur morphology, Abnormal bone ossification, Abnormal morphology of... ORPHA:1263
Hypochondroplasia
Abnormality of femur morphology, Short toe, Sleep apnea, Osteoarthritis, Brachydactyly, Genu varu... ORPHA:429
Multiple Epiphyseal Dysplasia With Robin Phenotype
Pectus excavatum, Cleft palate, Hypoplasia of the capital femoral epiphysis, Genu valgum, Rhizome... OMIM:601560
Immunodeficiency 43
Hypoplasia of the ulna, Radial bowing, Bronchiectasis OMIM:241600
Thoracomelic Dysplasia
Narrow chest, Short ribs, Hyperlordosis, Abnormality of fibula morphology, Limb undergrowth, Genu... ORPHA:1803
Hypophosphatasia, Childhood
Bowing of the legs, Craniosynostosis, Premature loss of primary teeth, Rachitic rosary, Carious t... OMIM:241510
Multiple Synostoses Syndrome 3
Cleft palate, Limited interphalangeal movement, Cutaneous syndactyly of toes, Metatarsal synostos... OMIM:612961
Temple Syndrome
High palate, Feeding difficulties, Cleft palate, Small hand, Micrognathia, Short philtrum, Flexio... OMIM:616222
Cebalid Syndrome
Plagiocephaly, Congenital diaphragmatic hernia, Platystencephaly, Depressed nasal ridge, Dolichoc... OMIM:618774
Potocki-Shaffer Syndrome
Parietal foramina, Broad nasal tip, Depressed nasal tip, Micrognathia, Brachycephaly, Prominent n... ORPHA:52022
Exostoses, Multiple, Type Ii
Coxa vara, Scapular exostoses, Madelung-like forearm deformities, Rib exostoses, Genu valgum, Pro... OMIM:133701
Exostoses, Multiple, Type I
Coxa vara, Scapular exostoses, Madelung-like forearm deformities, Rib exostoses, Genu valgum, Pro... OMIM:133700
Hyperparathyroidism, Transient Neonatal
Narrow chest, Respiratory distress, Feeding difficulties, Thin ribs, Short ribs, Femoral bowing, ... OMIM:618188
Cleft Palate, Deafness, And Oligodontia
No permanent dentition, Oligodontia of primary teeth, Short hallux, Sandal gap, Cleft soft palate OMIM:216300
Epiphyseal Dysplasia, Multiple, 7
Epiphyseal dysplasia, Advanced ossification of carpal bones, Monkey wrench femoral neck, Platyspo... OMIM:617719
Metaphyseal Dysplasia Without Hypotrichosis
Metaphyseal irregularity, Cone-shaped epiphyses of the phalanges of the hand, Metaphyseal dysplas... OMIM:250460
Dysostosis Multiplex, Ain-Naz Type
Abdominal distention, Hemivertebrae, Wide humerus, Scoliosis, Glenoid fossa hypoplasia, Elongated... OMIM:619345
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2B, Prenatal Onset, Autosomal Dominant
Kyphosis, Talipes equinovarus, Feeding difficulties, Flexion contracture, Micrognathia, Overlappi... OMIM:618291
Melnick-Needles Syndrome
Cone-shaped epiphyses of the phalanges of the hand, Abnormality of the pubic bone, Delayed erupti... ORPHA:2484
Microcephaly-Microcornea Syndrome, Seemanova Type
Retrognathia, Microcephaly, Brachycephaly ORPHA:2528
Spondyloepiphyseal Dysplasia Congenita
Respiratory distress, Cleft palate, Barrel-shaped chest, Platyspondyly, Pectus carinatum, Limitat... OMIM:183900
Eye Defects-Arachnodactyly-Cardiopathy Syndrome
Clinodactyly of the 5th finger, Cleft palate, Abnormal hip bone morphology, Arachnodactyly, Radio... ORPHA:2725
Jeune Syndrome
Narrow chest, Abnormal clavicle morphology, Abnormal sternum morphology, Cone-shaped epiphysis, R... ORPHA:474
Spondyloepiphyseal Dysplasia Tarda
Abnormally ossified vertebrae, Barrel-shaped chest, Platyspondyly, Biconcave vertebral bodies, Ar... ORPHA:93284
Potocki-Shaffer Syndrome
Brachycephaly, Parietal foramina, Short nose, Turricephaly, Underdeveloped nasal alae, Wide nasal... OMIM:601224
Angel-Shaped Phalango-Epiphyseal Dysplasia
Hypodontia, Short 1st metacarpal, Delayed eruption of teeth, Hip osteoarthritis, Short middle pha... ORPHA:63442
Faciocardiomelic Dysplasia, Lethal
Narrow mouth, Hypoplasia of the radius, Micrognathia, Retrognathia, Short 5th finger, Neonatal de... OMIM:227270
Femoral-Facial Syndrome
Vertebral segmentation defect, Rib fusion, Coxa vara, Sprengel anomaly, Aplasia/Hypoplasia of the... ORPHA:1988
Platyspondylic Lethal Skeletal Dysplasia, Torrance Type
Narrow chest, Metaphyseal cupping, Severe limb shortening, Thin ribs, Short ribs, Disc-like verte... OMIM:151210
Spondyloepimetaphyseal Dysplasia With Hypotrichosis
Delayed epiphyseal ossification, Proximal humeral metaphyseal irregularity, Coxa vara, Increased ... OMIM:183849
Meier-Gorlin Syndrome 1
High palate, Respiratory distress, Cleft palate, Absent glenoid fossa, Hemivertebrae, Microdontia... OMIM:224690
Isolated Pierre Robin Syndrome
Cleft palate, Glossoptosis, Micrognathia, Upper airway obstruction, Neonatal respiratory distress ORPHA:718
Schinzel-Giedion Syndrome
High palate, Wide mouth, Respiratory distress, Abnormal clavicle morphology, Short 1st metacarpal... ORPHA:798
Moebius Syndrome
High palate, Respiratory distress, Talipes equinovarus, Micrognathia, Abnormality of the dentitio... OMIM:157900
Spondyloepimetaphyseal Dysplasia, Irapa Type
Platyspondyly, Micromelia, Upper limb undergrowth, Pectus carinatum, Hypoplastic pelvis, Genu val... ORPHA:93351
Tumoral Calcinosis, Hyperphosphatemic, Familial, 2
Radial bowing OMIM:617993
Rhiny
Anteverted nares, Short nose, Inguinal hernia OMIM:180360
X-Linked Hypophosphatemia
Craniosynostosis, Upper limb metaphyseal widening, Genu valgum, Abnormal epiphysis morphology, Bo... ORPHA:89936
Familial Anetoderma
Lumbar hyperlordosis, High, narrow palate, Generalized joint laxity, Abnormality of tibia morphol... ORPHA:228277
Donnai-Barrow Syndrome
Intestinal malrotation, Wide anterior fontanel, Short sternum, Malar flattening OMIM:222448
Epiphyseal Dysplasia, Multiple, 1
Irregular vertebral endplates, Epiphyseal dysplasia, Delayed epiphyseal ossification, Joint stiff... OMIM:132400
Diaphanospondylodysostosis
Vertebral segmentation defect, Respiratory distress, Talipes equinovarus, Cleft palate, Tracheoma... OMIM:608022
Craniometadiaphyseal Dysplasia, Wormian Bone Type
Obtuse angle of mandible, High palate, Wide anterior fontanel, Increased bone mineral density, Ma... ORPHA:85184
Intellectual Developmental Disorder, X-Linked, Syndromic, Wu Type
Macrocephaly, Slender build, Brachycephaly OMIM:300699
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome
Narrow chest, Abnormal clavicle morphology, Micrognathia, Short philtrum, Platyspondyly, Abnormal... ORPHA:93267
Whistling Face Syndrome, Recessive Form
High palate, Kyphoscoliosis, Narrow mouth, Talipes equinovarus, Malar flattening, Micrognathia, L... OMIM:277720
Acrocapitofemoral Dysplasia
Cone-shaped metacarpal epiphyses, Coxa vara, Narrow chest, Pectus excavatum, Abnormal femoral nec... ORPHA:63446
Maxillonasal Dysplasia
Depressed nasal ridge, Depressed nasal bridge, Abnormality of the nares, Short nose, Hypoplasia o... ORPHA:1248
Lethal Osteosclerotic Bone Dysplasia
Respiratory distress, Gingival overgrowth, Retrognathia, Delayed cranial suture closure, Microgna... ORPHA:1832
Ulnar-Mammary Syndrome
Aplasia of the 5th metacarpal, Hypoplasia of the radius, Hypoplasia of the ulna, Pyloric stenosis... OMIM:181450
Stickler Syndrome, Type Ii
High, narrow palate, Cleft palate, Malar flattening, Arachnodactyly, Micrognathia, Bifid uvula, L... OMIM:604841
Osteogenesis Imperfecta, Type Xxi
Coxa vara, Bowing of the legs, Pectus excavatum, Recurrent fractures, Barrel-shaped chest, Platys... OMIM:619131
Autosomal Recessive Distal Osteolysis Syndrome
Broad nasal tip, Midface retrusion, Hypoplasia of the maxilla ORPHA:2776
Hypocalcemic Vitamin D-Resistant Rickets
Recurrent fractures, Bone cyst, Joint dislocation, Abnormal hip bone morphology, Abnormality of t... ORPHA:93160
Craniometadiaphyseal Dysplasia
High palate, Wide anterior fontanel, Sclerosis of skull base, Malar flattening, Osteopenia, Flare... OMIM:269300
Spondyloepimetaphyseal Dysplasia, Shohat Type
Platyspondyly, Abnormal epiphysis morphology, Generalized bone demineralization, Premature osteoa... ORPHA:93352
Metatropic Dysplasia
Narrow chest, Kyphosis, Abnormal enchondral ossification, Halberd-shaped pelvis, Clinodactyly of ... ORPHA:2635
Anauxetic Dysplasia 3
Pectus excavatum, Femoral bowing, Platyspondyly, Genu valgum, Hip subluxation, Broad middle phala... OMIM:618853
Butyrylcholinesterase Deficiency
Myocardial infarction, Congestive heart failure ORPHA:132
Spondyloepiphyseal Dysplasia Congenita
Cleft palate, Abnormally ossified vertebrae, Barrel-shaped chest, Platyspondyly, Upper limb under... ORPHA:94068
Arrhythmogenic Right Ventricular Dysplasia, Familial, 8
Premature ventricular contraction, Right ventricular cardiomyopathy, Sudden cardiac death, Ventri... OMIM:607450
Neurodevelopmental Disorder With Structural Brain Anomalies And Dysmorphic Facies
Plagiocephaly, Unilambdoid synostosis, Micrognathia, Short nose, Anteverted nares, Brachycephaly,... OMIM:618577
Dyssegmental Dysplasia, Silverman-Handmaker Type
Narrow mouth, Talipes equinovarus, Malar flattening, Micrognathia, Neonatal death, Anisospondyly,... OMIM:224410
Zimmermann-Laband Syndrome 3
Short distal phalanx of finger, Kyphosis, Long hallux, High palate, Gingival overgrowth, Flexion ... OMIM:618658
Acromegaloid Facial Appearance Syndrome
Joint hypermobility, Micrognathia, Tapered finger, Deep philtrum, Large hands, Short 5th metacarp... OMIM:102150
Cardiac Conduction Disease With Or Without Dilated Cardiomyopathy
Left anterior fascicular block, Atrial arrhythmia, Premature ventricular contraction, Tachycardia... OMIM:616117
Pseudodiastrophic Dysplasia
Failure to thrive, Malar flattening, Micrognathia, Camptodactyly, Frontal bossing, Anteverted nar... OMIM:264180
Pseudoachondroplasia
Fragmented epiphyses, Irregular carpal bones, Fragmented, irregular epiphyses, Platyspondyly, Sma... OMIM:177170
Rhizomelic Dysplasia, Ain-Naz Type
Short femur, Short humerus, Hypoplasia of the femoral head, Short femoral neck, Wide distal femor... OMIM:619598
Gómez-López-Hernández Syndrome
Anteverted nares, Brachycephaly, Midface retrusion, Turricephaly ORPHA:1532
Pallister-Hall-Like Syndrome
Cleft palate, Short ribs, Micrognathia, Micromelia, Postaxial hand polydactyly, Death in infancy,... OMIM:241800
Non-Syndromic Bicoronal Craniosynostosis
Brachycephaly, Midface retrusion ORPHA:35099
Multiple Osteochondromas
Abnormality of femur morphology, Hemothorax, Scapular exostoses, Limitation of knee mobility, Abn... ORPHA:321
Spondyloepimetaphyseal Dysplasia, Isidor-Toutain Type
Coxa vara, Short long bone, Enlarged metaphyses, Platyspondyly, Irregular femoral epiphysis, Genu... OMIM:618728
Achondrogenesis Type 1A
Narrow chest, Recurrent fractures, Abdominal distention, Multiple rib fractures, Micrognathia, Mi... ORPHA:93299
Femur-Fibula-Ulna Complex
Abnormality of femur morphology, Abnormal morphology of ulna, Short humerus, Micromelia, Aplasia/... ORPHA:2019
Endocardial Fibroelastosis
Restrictive cardiomyopathy, Cryptorchidism, Hypoplasia of penis, Congestive heart failure ORPHA:2022
Eiken Syndrome
Abnormal fingertip morphology, Thin bony cortex, Epiphyseal dysplasia, Metaphyseal irregularity, ... ORPHA:79106
Lethal Faciocardiomelic Dysplasia
Narrow mouth, Microretrognathia, Hypoplasia of the radius, Radial club hand, Short tibia, Short 5... ORPHA:1972
Craniodigital-Intellectual Disability Syndrome
Micrognathia, Short nose, Brachycephaly, Narrow nasal bridge ORPHA:1514
Intellectual Developmental Disorder With Language Impairment And With Or Without Autistic Features
Macrocephaly, Malar flattening, Retrognathia, Broad nasal tip, Short nose, Obesity, Failure to th... OMIM:613670
Greenberg Dysplasia
Narrow chest, Abnormal bone ossification, Anterior rib punctate calcifications, Abnormally ossifi... ORPHA:1426
Osteopathia Striata-Cranial Sclerosis Syndrome
Large iliac wing, Asymmetry of the thorax, Cleft palate, High, narrow palate, Retrognathia, Delay... ORPHA:2780
Spondyloperipheral Dysplasia-Short Ulna Syndrome
Flattened femoral head, Cleft palate, Hip dysplasia, Aplasia/hypoplasia involving bones of the ex... ORPHA:1856
Brachydactyly-Elbow Wrist Dysplasia Syndrome
Joint stiffness, Clinodactyly of the 5th finger, Abnormal morphology of ulna, Abnormality of the ... ORPHA:1275
Clark-Baraitser Syndrome
Low hanging columella, Dolichocephaly, Depressed nasal bridge, Microcephaly, Short nose, Antevert... OMIM:617752
Cataract-Intellectual Disability-Hypogonadism Syndrome
High palate, Tooth malposition, Malar flattening, Everted lower lip vermilion, Micrognathia, Shor... ORPHA:1387
Fetal Akinesia Deformation Sequence 4
High palate, Kyphosis, Flexion contracture, Retrognathia, Micrognathia, Camptodactyly, Arthrogryp... OMIM:618393
Left Ventricular Noncompaction 1
Left ventricular noncompaction cardiomyopathy, Mitral regurgitation, Sudden cardiac death, Palpit... OMIM:604169
Mucopolysaccharidosis, Type Ix
Periarticular soft-tissue mass, Finger joint hypermobility, Popliteal synovial cyst, Chondrocalci... OMIM:601492
Polyneuropathy-Intellectual Disability-Acromicria-Premature Menopause Syndrome
Camptodactyly of finger, Brachydactyly, Micromelia, Ulnar deviation of finger, Furrowed tongue, A... ORPHA:2928
Arthrogryposis Multiplex Congenita-Whistling Face Syndrome
Joint stiffness, Narrow mouth, Adducted thumb, Thin vermilion border, Micrognathia, Downturned co... ORPHA:1150
Spondylometaphyseal Dysplasia, Algerian Type
Coxa vara, Hypoplasia of proximal radius, Metaphyseal dysplasia, Kyphoscoliosis, Lumbar hyperlord... OMIM:184253
Intellectual Developmental Disorder, X-Linked, Syndromic 12
Mandibular prognathia, Brachycephaly OMIM:309545
Desbuquois Dysplasia 1
Radial deviation of the 2nd finger, Short 1st metacarpal, Monkey wrench femoral neck, Platyspondy... OMIM:251450
Short Stature, Brussels Type
Narrow chest, Delayed epiphyseal ossification, Microretrognathia, Calcification of cartilage ORPHA:2867
Tibia, Absence Or Hypoplasia Of, With Polydactyly, Retrocerebellar Arachnoid Cyst, And Other Anomalies
Cleft upper lip, Radial bowing, Aplasia/Hypoplasia of the tibia, Talipes equinovarus, Abnormal th... OMIM:601027
Mesomelic Dysplasia, Nievergelt Type
Clinodactyly of the 5th finger, Abnormal morphology of ulna, Camptodactyly of finger, Scoliosis, ... ORPHA:2633
Split-Foot Deformity With Mandibulofacial Dysostosis
Cleft palate, Split foot, Malar flattening, Micrognathia, Split hand, Toe syndactyly OMIM:183700
Cardiomyopathy, Familial Hypertrophic, 6
Wolff-Parkinson-White syndrome, Prolonged QRS complex, Left bundle branch block, Atrioventricular... OMIM:600858
Ventricular Extrasystoles With Syncopal Episodes-Perodactyly-Robin Sequence Syndrome
Short distal phalanx of finger, Short toe, Joint dislocation, Hypodontia, High, narrow palate, Gl... ORPHA:3201
Spondylometaepiphyseal Dysplasia, Short Limb-Hand Type
High palate, Broad phalanx, Pectus excavatum, Platyspondyly, Micromelia, C1-C2 subluxation, Hip s... OMIM:271665
Hydrops Fetalis, Nonimmune
Congestive heart failure OMIM:236750
Orofaciodigital Syndrome Type 10
Retrognathia, Micrognathia, Long philtrum, Cleft soft palate, Short toe, Oligodactyly, Tarsal syn... ORPHA:2756
Cardiomyopathy, Familial Hypertrophic, 8
Restrictive cardiomyopathy, Sudden cardiac death, Palpitations, T-wave inversion, Ventricular fib... OMIM:608751
Morbid Obesity And Spermatogenic Failure
Oligospermia, Myocardial infarction, Azoospermia, Hypertension, Congestive heart failure OMIM:615703
Sillence Syndrome
Platyspondyly, Large tarsal bones, Chess-pawn distal phalanges, Aplasia of the middle phalanx of ... ORPHA:3168
Arthrogryposis Multiplex Congenita 4, Neurogenic, With Agenesis Of The Corpus Callosum
Narrow mouth, Thin vermilion border, Micrognathia, Death in childhood, Feeding difficulties in in... OMIM:618766
Arthrogryposis Multiplex Congenita 1, Neurogenic, With Myelin Defect
High palate, Hip contracture, Internally rotated shoulders, Talipes equinovarus, Flexion contract... OMIM:617468
Dermatosparaxis Ehlers-Danlos Syndrome
Coxa vara, Joint stiffness, Joint dislocation, Gastroesophageal reflux, Hiatus hernia, Retrognath... ORPHA:1901
Ring Chromosome 4 Syndrome
Split hand, Abnormal morphology of ulna, Aplasia/Hypoplasia of the radius, Abnormality of the upp... ORPHA:1447
Progressive Pseudorheumatoid Arthropathy Of Childhood
Platyspondyly, Irregular acetabular roof, Genu valgum, Polyarticular arthropathy, Generalized ost... ORPHA:1159
Atelosteogenesis Type Ii
Broad phalanx, Cleft palate, Micromelia, Upper limb undergrowth, Rhizomelic arm shortening, Genu ... ORPHA:56304
Radio-Renal Syndrome
Respiratory distress, High, narrow palate, Chylothorax, Hypoplasia of the radius, Micrognathia, R... ORPHA:3015
Acrodysostosis
Short toe, Abnormal morphology of ulna, Open bite, Hypoplasia of the radius, Cone-shaped epiphysi... ORPHA:950
Craniosynostosis-Hydrocephalus-Arnold-Chiari Malformation Type I-Radioulnar Synostosis Syndrome
Brachycephaly, Malar flattening, Craniosynostosis, Depressed nasal bridge, Micrognathia, Short no... ORPHA:171839
Mosaic Variegated Aneuploidy Syndrome 1
Short sternum, Triangular mouth, Cleft palate, Malar flattening, Micrognathia, Long philtrum, Fee... OMIM:257300
Methylmalonic Aciduria And Homocystinuria, Cblx Type
Failure to thrive, Microcephaly, Brachycephaly OMIM:309541
Aminopterin Syndrome Sine Aminopterin
Macrocephaly, Decreased body weight, Joint contracture of the hand, Inguinal hernia, Micrognathia... OMIM:600325
Spondyloepimetaphyseal Dysplasia, Irapa Type
Coxa vara, Metaphyseal dysplasia, Lumbar hyperlordosis, Hypoplastic sacrum, Osteoarthritis, Platy... OMIM:271650
Simpson-Golabi-Behmel Syndrome, Type 1
Wide mouth, Pectus excavatum, Short sternum, Cleft palate, 2-3 finger syndactyly, Pectus carinatu... OMIM:312870
Distal Limb Deficiencies-Micrognathia Syndrome
High palate, Narrow mouth, Microretrognathia, Abnormal morphology of ulna, Cleft palate, Split fo... ORPHA:1307
Dyssegmental Dysplasia With Glaucoma
Delayed epiphyseal ossification, Wide anterior fontanel, Hip contracture, Cleft palate, Malar fla... OMIM:601561
Autosomal Recessive Stickler Syndrome
Irregular vertebral endplates, Epiphyseal dysplasia, Cleft palate, Malar flattening, Micrognathia... ORPHA:250984
Fibrous Dysplasia Of Bone
Abnormality of femur morphology, Abnormal clavicle morphology, Abnormality of the humerus, Thin b... ORPHA:249
Crouzon Syndrome With Acanthosis Nigricans
Brachycephaly, Midface retrusion, Choanal atresia, Craniosynostosis OMIM:612247
Metaphyseal Anadysplasia 2
Bowing of the legs, Metaphyseal irregularity, Metaphyseal widening, Micromelia, Short femoral nec... OMIM:613073
Pierpont Syndrome
Failure to thrive, Decreased body weight, Malar flattening, Broad nasal tip, Microcephaly, Short ... OMIM:602342
Clark-Baraitser syndrome
Kyphosis, Maxillary lateral incisor microdontia, Genu recurvatum, Prominent median palatal raphe,... OMIM:300602
Chondroectodermal Dysplasia With Night Blindness
Talipes calcaneovarus, Epiphyseal dysplasia, Metaphyseal dysplasia, Metaphyseal irregularity, Fra... ORPHA:319195
Cardiomyopathy, Dilated, 1A
Sudden cardiac death, Ventricular arrhythmia, Third degree atrioventricular block, Dilated cardio... OMIM:115200
Spondyloepiphyseal Dysplasia-Craniosynostosis-Cleft Palate-Cataracts-Intellectual Disability Syndrome
High palate, Slender finger, Cleft palate, Platyspondyly, Anisospondyly, Hemiatrophy of upper lim... ORPHA:163649
Spondyloepiphyseal Dysplasia Tarda, Autosomal Recessive, Leroy-Spranger Type
Irregular vertebral endplates, Decreased hip abduction, Lumbar hyperlordosis, Flat capital femora... OMIM:609223
Cleft Palate-Short Stature-Vertebral Anomalies Syndrome
Anteverted nares, Micrognathia, Short nose ORPHA:2015
Cardiocranial Syndrome, Pfeiffer Type
Temporomandibular joint ankylosis, Episodic tachypnea, Slender finger, High, narrow palate, Micro... ORPHA:2872
Chromosome 3Pter-P25 Deletion Syndrome
Bulbous nose, Low hanging columella, Small for gestational age, Dolichocephaly, Broad nasal tip, ... OMIM:613792
Spondyloepimetaphyseal Dysplasia, X-Linked
Broad phalanx, Cone-shaped epiphyses of the phalanges of the hand, Anterior wedging of T11, Platy... OMIM:300106
Orofaciodigital Syndrome Vi
High palate, Cleft upper lip, Accessory oral frenulum, Mesoaxial hand polydactyly, Cleft palate, ... OMIM:277170
Turner Syndrome Due To Structural X Chromosome Anomalies
High palate, Pectus excavatum, Short sternum, Abnormality of the dentition, Osteopenia, Irregular... ORPHA:99413
Mosaic Monosomy X
High palate, Pectus excavatum, Short sternum, Abnormality of the dentition, Osteopenia, Irregular... ORPHA:99228
Monosomy X
High palate, Pectus excavatum, Short sternum, Abnormality of the dentition, Osteopenia, Irregular... ORPHA:99226
Turner Syndrome
High palate, Pectus excavatum, Short sternum, Abnormality of the dentition, Osteopenia, Irregular... ORPHA:881
Hemochromatosis, Type 2A
Hypogonadotropic hypogonadism, Arrhythmia, Dilated cardiomyopathy, Azoospermia, Cardiomyopathy, C... OMIM:602390
Osteogenesis Imperfecta, Type Xii
Malar flattening, Depressed nasal bridge, Micrognathia, Brachyturricephaly, Delayed eruption of t... OMIM:613849
Chondrodysplasia Punctata, Tibia-Metacarpal Type
Malar flattening, Short tibia, Micromelia, Short 3rd metacarpal, Limb undergrowth, Short 2nd meta... OMIM:118651
Multiple Epiphyseal Dysplasia, Beighton Type
Biconcave vertebral bodies, Arthralgia of the hip, Genu valgum, Pedal edema, Double-layered patel... ORPHA:166011
Congenital Hypothyroidism Due To Maternal Intake Of Antithyroid Drugs
Respiratory distress, Delayed epiphyseal ossification, Constipation, Abdominal distention, Macrog... ORPHA:226313
Orofacial Cleft 13
Micrognathia, Oligodontia, Cleft soft palate OMIM:613857
Dyssegmental Dysplasia, Silverman-Handmaker Type
Miscarriage, Cleft palate, Micromelia, Anisospondyly, Pterygium, Short long bone, Talipes equinov... ORPHA:1865
Isolated Osteopoikilosis
Abnormality of femur morphology, Joint stiffness, Abnormal bone ossification, Sclerosis of foot b... ORPHA:166119
Coffin-Siris Syndrome 1
High palate, Wide mouth, Short sternum, Prominent fingertip pads, Cleft palate, Short philtrum, D... OMIM:135900
Hypophosphatasia, Infantile
Bowing of the legs, Apnea, Metaphyseal cupping, Widely patent fontanelles and sutures, Constipati... OMIM:241500
9q subtelomeric deletion syndrome
Anteverted nares, Microcephaly, Short nose, Midface retrusion DECIPHER:52
Robinow Syndrome, Autosomal Recessive 2
Relative macrocephaly, Broad nasal tip, Micrognathia, Camptodactyly, Frontal bossing, Ventral her... OMIM:618529
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly
Cleft palate, Femoral bowing, Cone-shaped epiphysis, Short digit, Hypoplasia of the ulna, Thoraci... OMIM:613091
Multiple Metaphyseal Dysplasia
Short distal phalanx of finger, Abnormal hip bone morphology, Broad distal phalanx of finger, Bra... ORPHA:93430
Coxopodopatellar Syndrome
Aplasia/Hypoplasia of the patella, Abnormal epiphysis morphology, Abnormal pelvic girdle bone mor... ORPHA:1509
Achondroplasia
Rhizomelia, Thoracic hypoplasia, Short long bone, Narrow greater sciatic notch, Hip joint hypermo... ORPHA:15
Ring Chromosome 8 Syndrome
Anteverted nares, Frontal bossing, Short nose ORPHA:1450
Chondrodysplasia With Joint Dislocations, Gpapp Type
Short toe, Narrow mouth, Cleft palate, Coronal craniosynostosis, Micrognathia, Brachydactyly, Gen... OMIM:614078
Facial Dysmorphism, Hypertrichosis, Epilepsy, Intellectual/Developmental Delay, And Gingival Overgrowth Syndrome
Wide mouth, Gingival overgrowth, Clinodactyly of the 5th finger, Micrognathia, Short philtrum, Br... OMIM:618381
Craniosynostosis 2
Supernumerary tooth, Craniosynostosis, Brachyturricephaly, Frontal bossing, Bicoronal synostosis,... OMIM:604757
Rhizomelic Dysplasia, Patterson-Lowry Type
Coxa vara, Deformed humeral heads, Short humerus, Brachydactyly, Rhizomelia, Short metatarsal, Sh... OMIM:601438
Mohr Syndrome
High palate, Pectus excavatum, Cleft palate, Lobulated tongue, Tongue nodules, Hypoplasia of the ... OMIM:252100
Pierpont Syndrome
Malar flattening, Small for gestational age, Primary microcephaly, Brachycephaly, Abnormal subcut... ORPHA:487825
Arterial Calcification, Generalized, Of Infancy, 2
Myocardial infarction, Hypertension, Congestive heart failure OMIM:614473
Mucopolysaccharidosis, Type Ivb
Pointed proximal second through fifth metacarpals, Wide mouth, Prominent sternum, Platyspondyly, ... OMIM:253010
Fibular Aplasia-Ectrodactyly Syndrome
Split hand, Aplasia/Hypoplasia of the fibula, Abnormal morphology of ulna ORPHA:1118
Atransferrinemia
Congestive heart failure OMIM:209300
Familial Dilated Cardiomyopathy
Left bundle branch block, Mitral regurgitation, Palpitations, Elevated pulmonary artery pressure,... ORPHA:217607
Hypophosphatemic Bone Disease
Bowing of the legs, Osteomalacia, Rickets OMIM:146350
Macrocephaly/Autism Syndrome
Depressed nasal bridge, Frontal bossing, Short nose, Postnatal macrocephaly, Obesity, Biparietal ... OMIM:605309
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 2
Streaky metaphyseal sclerosis, Congenital hip dislocation, Hypoplasia of the capital femoral epip... OMIM:603546
Schwartz-Jampel Syndrome, Type 1
High palate, Pursed lips, Congenital hip dislocation, Platyspondyly, Micromelia, Pectus carinatum... OMIM:255800
Mucopolysaccharidosis, Type Iva
Pointed proximal second through fifth metacarpals, Wide mouth, Prominent sternum, Anterior beakin... OMIM:253000
Mesomelia-Synostoses Syndrome
Abnormality of femur morphology, Abnormality of the humerus, Abnormality of the ankles, Micromeli... ORPHA:2496
Intellectual Developmental Disorder, X-Linked 1
Brachycephaly, Secondary microcephaly OMIM:309530
Rhizomelic Chondrodysplasia Punctata, Type 1
Kyphoscoliosis, Cleft palate, Malar flattening, Flexion contracture, Micrognathia, Flared metaphy... OMIM:215100
Omodysplasia 2
Dislocated radial head, Short 1st metacarpal, Short humerus, Long philtrum, Rhizomelic arm shorte... OMIM:164745
Axial Spondylometaphyseal Dysplasia
Osteopenia, Platyspondyly, Upper limb undergrowth, Flared, irregular rib ends, Thoracic hypoplasi... ORPHA:168549
Spondyloepimetaphyseal Dysplasia, Matrilin-3 Type
Enlarged joints, Bowing of the legs, Lumbar hyperlordosis, Pectus excavatum, Limited elbow extens... ORPHA:156728
Spondylomegaepiphyseal Dysplasia With Upper Limb Mesomelia, Punctate Calcifications, And Deafness
Cone-shaped epiphyses of the phalanges of the hand, Platyspondyly, Distal ulnar epiphyseal stippl... OMIM:609616
Neurodevelopmental Disorder With Central And Peripheral Motor Dysfunction
Cleft palate, Feeding difficulties, Hyperextensibility of the finger joints, Glossoptosis, Respir... OMIM:618356
Infantile-Onset X-Linked Spinal Muscular Atrophy
High palate, Respiratory distress, Kyphoscoliosis, Hip contracture, Short ribs, Poor suck, Respir... ORPHA:1145
Rnf13-Related Severe Early-Onset Epileptic Encephalopathy
Respiratory distress, Metacarpophalangeal joint contracture, Edema of the dorsum of feet, Hypodon... ORPHA:544503
Combined Oxidative Phosphorylation Deficiency 17
Hypertrophic cardiomyopathy, Congestive heart failure OMIM:615440
Microbrachycephaly-Ptosis-Cleft Lip Syndrome
Malar flattening, Microcephaly, Narrow nasal bridge, Shagreen patch, Flat occiput, Abnormal zygom... ORPHA:2511
Combined Oxidative Phosphorylation Deficiency 23
Arrhythmia, Cardiomyopathy, Congestive heart failure OMIM:616198
Cardiomyopathy-Cataract-Hip Spine Disease Syndrome
Pulmonary embolism, Arrhythmia, Hypertension, Hypertrophic cardiomyopathy, Congestive heart failure ORPHA:1345
Polydactyly, Postaxial, With Dental And Vertebral Anomalies
Dens in dente, Pectus excavatum, Hemivertebrae, Macrodontia, Pectus carinatum, Mandibular prognat... OMIM:263540
Rubinstein-Taybi Syndrome 2
High palate, Dental malocclusion, Narrow palate, Retrognathia, Micrognathia, Intestinal malrotati... OMIM:613684
Atkin-Flaitz Syndrome
Kyphosis, Maxillary lateral incisor microdontia, Genu recurvatum, Prominent median palatal raphe,... OMIM:300431
Sheldon-Hall Syndrome
Vertebral segmentation defect, High palate, Joint stiffness, Abnormal hip bone morphology, Adduct... ORPHA:1147
Otospondylomegaepiphyseal Dysplasia, Autosomal Recessive
Enlarged joints, Cleft palate, Platyspondyly, Premature osteoarthritis, Large tarsal bones, Short... OMIM:215150
Atrial Standstill
Ventricular escape rhythm, Abnormal P wave, Atrial standstill, Palpitations, Mobitz I atrioventri... ORPHA:1344
Blomstrand Lethal Chondrodysplasia
Platyspondyly, Rhizomelia, Abnormal epiphysis morphology, Bowing of the long bones, Distal shorte... ORPHA:50945
Ear-Patella-Short Stature Syndrome
Respiratory distress, Cleft palate, Craniosynostosis, Abnormal epiphysis morphology, Hypoplasia o... ORPHA:2554
Thrombocytopenia-Absent Radius Syndrome
Aplasia/Hypoplasia of the ulna, Clinodactyly of the 5th finger, Finger syndactyly, Cleft palate, ... ORPHA:3320
Cerebrocostomandibular Syndrome
High palate, Rib gap, Abnormality of the dentition, Congenital hip dislocation, 11 pairs of ribs,... OMIM:117650
Atrial Septal Defect, Sinus Venosus Type
Supraventricular arrhythmia, Supraventricular tachycardia, Premature atrial contractions, Atrial ... ORPHA:99105
Oculofaciocardiodental Syndrome
Cleft palate, Abnormality of the dentition, Delayed eruption of teeth, Radioulnar synostosis, Ham... ORPHA:2712
Non-Eruption Of Teeth-Maxillary Hypoplasia-Genu Valgum Syndrome
Hypodontia, Malar flattening, Maxillozygomatic hypoplasia, Delayed eruption of teeth, Genu valgum... ORPHA:2972
Epiphyseal Dysplasia, Multiple, With Miniepiphyses
Epiphyseal dysplasia, Lumbar hyperlordosis, Generalized joint laxity, Broad femoral neck, Short f... OMIM:609325
Peroxisomal Acyl-Coa Oxidase Deficiency
Frontal bossing, Depressed nasal bridge, Brachycephaly, Wide nasal bridge OMIM:264470