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
Exostoses of the ulna, Tibial bowing, Wide proximal femoral metaphysis, Broad femoral neck, Hypop... ORPHA:85188
Multiple Epiphyseal Dysplasia Type 4
Skewfoot, Stiff ankle, Short metacarpal, Joint stiffness, Broad femoral neck, Abnormal forearm bo... ORPHA:93307
Schneckenbecken Dysplasia
Snail-like ilia, Short ribs, Short long bone, Flat acetabular roof, Dumbbell-shaped long bone, Th... OMIM:269250
Spondyloepimetaphyseal Dysplasia, Missouri Type
Limited elbow extension, Rhizomelia, Platyspondyly, Small epiphyses, Ulnar bowing, Metaphyseal cu... OMIM:602111
Cleidocranial Dysplasia
Glossoptosis, Decreased skull ossification, Sinusitis, Abnormal epiphysis morphology, Abnormal me... ORPHA:1452
Platyspondylic Dysplasia, Torrance Type
Abdominal distention, Abnormal carpal morphology, Platyspondyly, Narrow chest, Metaphyseal cuppin... ORPHA:85166
Fibrochondrogenesis 1
Narrow greater sciatic notch, Short ribs, Short long bone, Dumbbell-shaped long bone, Hypoplastic... OMIM:228520
Atelosteogenesis, Type Iii
Widened distal phalanges, Tombstone-shaped proximal phalanges, Rhizomelia, Sandal gap, Hitchhiker... OMIM:108721
Cardiomyopathy, Dilated, 1Ee
Congestive heart failure, Dilated cardiomyopathy, Increased left ventricular end-diastolic volume... OMIM:613252
Kniest Dysplasia
Tibial bowing, Pectus excavatum, Hypoplastic pelvis, Dumbbell-shaped long bone, Dumbbell-shaped f... OMIM:156550
Platyspondylic Lethal Skeletal Dysplasia, Torrance Type
Short long bone, Short ribs, Flat acetabular roof, Dumbbell-shaped long bone, Hypoplastic ischia,... OMIM:151210
Dysosteosclerosis
Short ribs, Broad femoral neck, Hypoplastic vertebral bodies, Delayed closure of the anterior fon... OMIM:224300
Cardiomyopathy, Dilated, 1M
Congestive heart failure, Reduced left ventricular ejection fraction, Impaired myocardial contrac... OMIM:607482
Short Stature, Auditory Canal Atresia, Mandibular Hypoplasia, And Skeletal Abnormalities
Narrow greater sciatic notch, Hypoplasia of the ulna, Rhizomelia, Talipes equinovarus, Flared met... OMIM:602471
Léri-Weill Dyschondrosteosis
Abnormal femur morphology, Abnormal hip bone morphology, Tibial bowing, Joint stiffness, Mesomeli... ORPHA:240
Ulnar Hemimelia
Limited elbow movement, Dislocated radial head, Congenital finger flexion contractures, Upper lim... ORPHA:93320
Autosomal Dominant Myopia-Midfacial Retrusion-Sensorineural Hearing Loss-Rhizomelic Dysplasia Syndrome
Rhizomelia, Narrow chest, Femoral bowing, Glossoptosis, Dumbbell-shaped long bone, Micromelia, Mi... ORPHA:440354
Atelosteogenesis, Type I
Tibial bowing, Clubbing, Short metacarpal, Short humerus, Thoracic hypoplasia, Thoracic platyspon... OMIM:108720
Microcephalic Osteodysplastic Primordial Dwarfism, Type Ii
Retrognathia, Hypoplastic iliac wing, Tibial bowing, Microdontia, Short distal phalanx of finger,... OMIM:210720
Dyggve-Melchior-Clausen Disease
Narrow greater sciatic notch, Multicentric ossification of proximal humeral epiphyses, Cone-shape... OMIM:223800
Cardiomyopathy, Dilated, 1Dd
Congestive heart failure, Left ventricular systolic dysfunction, Dilated cardiomyopathy, Sudden c... OMIM:613172
Pierre Robin Sequence With Pectus Excavatum And Rib And Scapular Anomalies
Pectus excavatum, Abnormal rib morphology, Hypoplastic distal segments of scapulae, Micrognathia,... OMIM:602196
Kyphomelic Dysplasia
Femoral bowing, Flat acetabular roof, Tibial bowing, Short metacarpal, Short humerus, Thoracic hy... OMIM:211350
Cardiomyopathy, Dilated, 1L
Congestive heart failure, Reduced left ventricular ejection fraction, Reduced systolic function, ... OMIM:606685
Short-Rib Thoracic Dysplasia 18 With Polydactyly
Preaxial polydactyly, Ulnar bowing, Vertebral wedging, Single transverse palmar crease, 2-3 toe s... OMIM:617866
Otospondylomegaepiphyseal Dysplasia
Sandal gap, Tibial bowing, Glossoptosis, Short metacarpal, Abnormally ossified vertebrae, Bifid u... ORPHA:1427
Cardiomyopathy, Dilated, 1Hh
Congestive heart failure, Dilated cardiomyopathy, Increased left ventricular end-diastolic volume OMIM:613881
Cardiomyopathy, Dilated, 1Ff
Congestive heart failure, Dilated cardiomyopathy, Increased left ventricular end-diastolic volume... OMIM:613286
Achondroplasia
Narrow greater sciatic notch, Femoral bowing, Short ribs, Trident hand, Death in infancy, Thoraci... OMIM:100800
Cardiomyopathy, Dilated, 1P
Congestive heart failure, Dilated cardiomyopathy, Ventricular arrhythmia, Reduced systolic function OMIM:609909
Mesomelic Limb Shortening And Bowing
Retrognathia, Mesomelic arm shortening, Camptodactyly of finger, Micrognathia, Mesomelic leg shor... OMIM:249710
Isolated Congenital Hypoglossia/Aglossia
Aplasia/Hypoplasia of fingers, Respiratory distress, Temporomandibular joint ankylosis, Dyspnea, ... ORPHA:141152
Achondrogenesis, Type Ia
Hypoplastic sacrum, Broad clavicles, Abnormal hand bone ossification, Short ribs, Decreased skull... OMIM:200600
Spondylometaphyseal Dysplasia, Kozlowski Type
Short tubular bones of the hand, Short greater sciatic notch, Pectus carinatum, Flat acetabular r... ORPHA:93314
Langer Mesomelic Dysplasia
Hypoplasia of the ulna, Hypoplasia of the radius, Fibular hypoplasia, Mesomelic arm shortening, M... OMIM:249700
Weismann-Netter Syndrome
Fibular bowing, Anterior tibial bowing, Scoliosis, Calvarial hyperostosis, Kyphosis, Lateral femo... OMIM:112350
Weismann-Netter Syndrome
Abnormal fibula morphology, Abnormal femur morphology, Abnormal tibia morphology, Abnormal hip bo... ORPHA:3344
Thanatophoric Dysplasia, Type Ii
Platyspondyly, Narrow chest, Short greater sciatic notch, Flared metaphysis, Wide-cupped costocho... OMIM:187601
Acro-Renal-Mandibular Syndrome
Pectus carinatum, Tracheoesophageal fistula, Kyphosis, Split foot, Hip dislocation, Hypoplasia of... ORPHA:958
Leri-Weill Dyschondrosteosis
Limited elbow movement, Tibial bowing, Increased carrying angle, Mesomelia, Coxa valga, Hypoplasi... OMIM:127300
Thanatophoric Dysplasia, Type I
Platyspondyly, Narrow chest, Short greater sciatic notch, Flared metaphysis, Wide-cupped costocho... OMIM:187600
Smith-Mccort Dysplasia 1
Beaking of vertebral bodies, Genu valgum, Irregular epiphyses, Barrel-shaped chest, Hypoplastic a... OMIM:607326
Pierre Robin Sequence With Facial And Digital Anomalies
Clinodactyly of the 5th finger, Easily subluxated first metacarpophalangeal joints, Glossoptosis,... OMIM:311895
Van Den Ende-Gupta Syndrome
Narrow foot, Dislocated radial head, Dental crowding, Femoral bowing, Short ribs, Pectus excavatu... OMIM:600920
Cleidocranial Dysplasia 1
Delayed pubic bone ossification, Cone-shaped epiphyses of the phalanges of the hand, Hypoplastic ... OMIM:119600
Marshall Syndrome
Small proximal tibial epiphyses, Bifid uvula, Irregular femoral epiphysis, Long philtrum, Irregul... OMIM:154780
Osteogenesis Imperfecta, Type Iii
Slender long bone, Wide anterior fontanel, Thin ribs, Tibial bowing, Scoliosis, Kyphosis, Multipl... OMIM:259420
Growth Delay-Hydrocephaly-Lung Hypoplasia Syndrome
Abnormal fibula morphology, Abnormality of the lower limb, Tibial bowing, Bowing of the long bone... ORPHA:3035
Vitamin D Hydroxylation-Deficient Rickets, Type 1A
Bulging of the costochondral junction, Femoral bowing, Tibial bowing, Metaphyseal irregularity, R... OMIM:264700
Cardiomyopathy, Dilated, 1Z
Congestive heart failure, Dilated cardiomyopathy, Sudden cardiac death OMIM:611879
Vitamin D-Dependent Rickets, Type 2A
Bulging of the costochondral junction, Femoral bowing, Tibial bowing, Metaphyseal irregularity, R... OMIM:277440
Acrocapitofemoral Dysplasia
Cone-shaped epiphyses of the phalanges of the hand, Hypoplastic iliac wing, Delayed ossification ... OMIM:607778
Acromesomelic Dysplasia 4
Sandal gap, Short metacarpal, Mesomelia, Metaphyseal irregularity, Prominent deltoid tuberosities... OMIM:619636
Shox-Related Short Stature
Ulnar radial head dislocation, Genu valgum, Cubitus valgus, Madelung deformity, Scoliosis, Tibial... ORPHA:314795
Ophthalmomandibulomelic Dysplasia
Fibular hypoplasia, Ulnar deviated club hands, Decreased mobility 3rd-5th fingers, Elbow dislocat... OMIM:164900
Hypophosphatemic Rickets, X-Linked Dominant
Rickets, Enamel hypomineralization, Genu valgum, Fibular bowing, Hypophosphatemic rickets, Cupped... OMIM:307800
Ritscher-Schinzel Syndrome 3
Hypoplasia of the ulna, Short first metatarsal, Ulnar bowing, Epiphyseal stippling, Wide anterior... OMIM:619135
Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly
Short long bone, Short ribs, Flat acetabular roof, Microdontia, Mesomelia, Syndactyly, Short dist... OMIM:614091
Robin Sequence-Oligodactyly Syndrome
Clinodactyly of the 5th finger, Abnormal metacarpal morphology, Abnormal form of the vertebral bo... ORPHA:3104
Vitamin D-Dependent Rickets, Type 2B, With Normal Vitamin D Receptor
Rickets, Genu valgum, Fibular bowing, Generalized bone demineralization, Rickets of the lower lim... OMIM:600785
Orofaciodigital Syndrome Iii
Supernumerary tooth, Postaxial hand polydactyly, Pectus excavatum, Microdontia, Kyphosis, Short s... OMIM:258850
Spondyloepimetaphyseal Dysplasia, Missouri Type
Small epiphyses, Flared metaphysis, Pear-shaped vertebrae, Knee osteoarthritis, Femoral bowing, T... ORPHA:93356
Cardiomyopathy, Dilated, 1K
Congestive heart failure, Dilated cardiomyopathy, Gallop rhythm OMIM:605582
Developmental Malformations-Deafness-Dystonia Syndrome
Orofacial cleft, Death in early adulthood, Femoral retroversion, Scoliosis, Hypoplastic scapulae,... ORPHA:79107
Acromesomelic Dysplasia 2C
Hypoplasia of the ulna, Hypoplasia of the radius, Fibular hypoplasia, Abnormally shaped carpal bo... OMIM:201250
Cardiomyopathy, Dilated, 1J
Congestive heart failure, Dilated cardiomyopathy, Abnormal left ventricular function, Sudden card... OMIM:605362
Osteogenesis Imperfecta, Type X
Tibial bowing, Thoracic hypoplasia, Dentinogenesis imperfecta, Joint hypermobility, Broad ribs, F... OMIM:613848
Osteogenesis Imperfecta, Type Viii
Tibial bowing, Femoral bowing, Short metacarpal, Decreased skull ossification, Kyphosis, Multiple... OMIM:610915
Vitamin D Hydroxylation-Deficient Rickets, Type 1B
Rickets, Enlargement of the costochondral junction, Fibular bowing, Delayed epiphyseal ossificati... OMIM:600081
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 1, With Or Without Fractures
Kyphoscoliosis, Broad distal phalanx of finger, Dislocated radial head, Short long bone, Large il... OMIM:271640
Bent Bone Dysplasia Syndrome 2
Osteopenia, Butterfly vertebrae, Ulnar bowing, Bowed humerus, Hypoplastic iliac wing, Thin ribs, ... OMIM:620076
Multiple Synostoses Syndrome 1
Radial deviation of finger, Proximal/middle symphalangism of 5th toe, Dislocated radial head, Pec... OMIM:186500
Cousin Syndrome
Dislocated radial head, Hypoplastic iliac wing, Wrist flexion contracture, Hypoplastic ischia, An... OMIM:260660
Campomelic Dysplasia
Fibular hypoplasia, 11 pairs of ribs, Narrow chest, Poorly ossified cervical vertebrae, Tracheoma... ORPHA:140
Campomelic Dysplasia
Kyphoscoliosis, Absent sternal ossification, Dislocated radial head, Hypoplastic iliac wing, Pect... OMIM:114290
Multiple Epiphyseal Dysplasia, Lowry Type
Fibular hypoplasia, Genu valgum, Rhizomelia, Fixed elbow flexion, Small epiphyses, Delayed epiphy... ORPHA:166016
Fibrochondrogenesis
Abnormal metaphysis morphology, Abnormal diaphysis morphology, Bell-shaped thorax, Narrow chest, ... ORPHA:2021
Cardiomyopathy, Dilated, 1B
Congestive heart failure, Dilated cardiomyopathy, Ventricular arrhythmia, Impaired myocardial con... OMIM:600884
Postaxial Oligodactyly, Tetramelic
Aplasia of the 5th metacarpal, Lunate-triquetral fusion, Absent fifth metatarsal, Single transver... OMIM:176240
Osteogenesis Imperfecta, Type Ii
Absent ossification of calvaria, Bell-shaped thorax, Crumpled long bones, Recurrent fractures, Th... OMIM:166210
Fibular Hemimelia
Abnormal bone ossification, Proximal femoral focal deficiency, Abnormal lower limb bone morpholog... ORPHA:93323
Cardiac Lipidosis, Familial
Congestive heart failure, Cardiomyopathy OMIM:212080
Dystonia-Deafness Syndrome 1
Kyphoscoliosis, Femoral retroversion, Cleft upper lip, Cleft palate, Dysphagia, Achalasia, Hypopl... OMIM:607371
Grant Syndrome
Wormian bones, Micrognathia, Tibial bowing, Down-sloping shoulders OMIM:138930
Tarp Syndrome
Rocker bottom foot, Hypoplasia of the radius, Deep palmar crease, Meckel diverticulum, Single tra... OMIM:311900
Catel-Manzke Syndrome
Clinodactyly of the 5th finger, Scoliosis, Glossoptosis, Pectus excavatum, Oral synechia, Radial ... ORPHA:1388
Cardiomyopathy, Dilated, 2A
Congestive heart failure, Dilated cardiomyopathy, Increased left ventricular end-diastolic volume OMIM:611880
Metaphyseal Dysplasia, Spahr Type
Osteochondritis dissecans, Genu valgum, Metaphyseal sclerosis, Short lower limbs, Metaphyseal wid... OMIM:250400
Sensorineural Deafness With Dilated Cardiomyopathy
Abnormal cardiac ventricular function, Congestive heart failure, Dilated cardiomyopathy ORPHA:217622
Antley-Bixler Syndrome Without Genital Anomalies Or Disordered Steroidogenesis
Rocker bottom foot, Lambdoidal craniosynostosis, Ulnar bowing, Narrow chest, Wide anterior fontan... OMIM:207410
Long Qt Syndrome 13
Congestive heart failure, Reduced left ventricular ejection fraction, Prolonged QTc interval, Syn... OMIM:613485
Spondylometaphyseal Dysplasia, Schmidt Type
Narrow greater sciatic notch, Kyphoscoliosis, Short long bone, Abnormality of the epiphysis of th... ORPHA:93316
Pelviscapular Dysplasia
Elbow flexion contracture, Abnormality of the joint spaces of the elbow, Hypoplastic ilia, Congen... ORPHA:93333
Cardiomyopathy, Dilated, 1I
Congestive heart failure, Dilated cardiomyopathy, Reduced left ventricular ejection fraction, Red... OMIM:604765
Melnick-Needles Syndrome
Kyphoscoliosis, Cone-shaped epiphyses of the phalanges of the hand, Tibial bowing, Pectus excavat... OMIM:309350
Rhizomelic Skeletal Dysplasia With Or Without Pelger-Huet Anomaly
Femoral bowing, Short long bone, Hyperlordosis, Kyphosis, Thoracic hypoplasia, Metaphyseal irregu... OMIM:618019
Phocomelia-Ectrodactyly-Deafness-Sinus Arrhythmia Syndrome
Hypoplasia of the ulna, Abnormality of the wrist, Radial club hand, Ulnar bowing, Aplasia/Hypopla... ORPHA:2878
Odontochondrodysplasia
Abnormal metaphysis morphology, Retrognathia, Square pelvis bone, Platyspondyly, Narrow chest, De... ORPHA:166272
Fibular Aplasia Or Hypoplasia, Femoral Bowing And Poly-, Syn-, And Oligodactyly
Aplasia/hypoplasia of the femur, Hypoplastic iliac wing, Femoral bowing, Hypoplastic pelvis, Apla... OMIM:228930
Cardiomyopathy, Dilated, 1Bb
Congestive heart failure, Left bundle branch block, Severely reduced left ventricular ejection fr... OMIM:612877
Osteoglophonic Dysplasia
Eruption failure, Short metacarpal, Broad metatarsal, Pectus excavatum, Broad thumb, Long philtru... OMIM:166250
Crane-Heise Syndrome
Finger syndactyly, Decreased skull ossification, Abnormally ossified vertebrae, Joint stiffness, ... ORPHA:1512
Momo Syndrome
Abnormal bone ossification, Thick lower lip vermilion, Long foot, Delayed eruption of teeth, Femo... ORPHA:2563
Stuve-Wiedemann Syndrome 1
Flexion contracture of toe, Short long bone, Femoral bowing, Clubbing, Tibial bowing, Death in in... OMIM:601559
Odontochondrodysplasia 1
Biconvex vertebral bodies, Cone-shaped epiphyses of the phalanges of the hand, Pectus carinatum, ... OMIM:184260
Left Ventricular Noncompaction 10
Congestive heart failure, Pulmonary arterial hypertension, Syncope, Increased left ventricular en... OMIM:615396
Metaphyseal Chondrodysplasia, Schmid Type
Femoral bowing, Broad femoral neck, Abnormal proximal femoral metaphysis morphology, Distal tibia... OMIM:156500
Hypophosphatemic Rickets With Hypercalciuria, Hereditary
Rickets, Hypophosphatemic rickets, Enlargement of the costochondral junction, Fibular bowing, Del... OMIM:241530
Peroxisome Biogenesis Disorder 10A (Zellweger)
Epiphyseal stippling, High palate, Death in infancy, Micrognathia, Feeding difficulties OMIM:614882
Cardiomyopathy, Dilated, 1U
Congestive heart failure, Left bundle branch block, First degree atrioventricular block, Severely... OMIM:613694
Left Ventricular Noncompaction 8
Congestive heart failure, Left ventricular systolic dysfunction, Arrhythmia, Dilated cardiomyopat... OMIM:615373
Microphthalmia With Limb Anomalies
Retrognathia, Sandal gap, Tibial bowing, 4-5 metacarpal synostosis, Hip dislocation, Fibular hypo... OMIM:206920
W Syndrome
Hypoplasia of the ulna, Pes cavus, Cubitus valgus, Broad uvula, Camptodactyly, Metatarsus adductu... ORPHA:2804
Metaphyseal Chondrodysplasia, Spahr Type
Abnormal metaphysis morphology, Reduced bone mineral density, Scoliosis, Hyperlordosis, Bowing of... ORPHA:2501
Blount Disease
Osteochondrosis, Tibial bowing, Abnormality of the proximal tibial epiphysis, Abnormality of the ... ORPHA:2768
Humerofemoral Hypoplasia With Radiotibial Ray Deficiency
Retrognathia, Bowed humerus, Short clavicles, Elbow flexion contracture, Hypoplastic pelvis, Bila... OMIM:618022
Cardiomyopathy, Dilated, 2B
Atrial fibrillation, Congestive heart failure, Dilated cardiomyopathy, Reduced left ventricular e... OMIM:614672
Adenylosuccinate Lyase Deficiency
Brachycephaly, Short nose, Anteverted nares, Microcephaly, Flat occiput ORPHA:46
Schneckenbecken Dysplasia
Abnormal metaphysis morphology, Diaphyseal undertubulation, Fibular hypoplasia, Lateral clavicle ... ORPHA:3144
Short-Rib Thoracic Dysplasia 12
Short long bone, Short ribs, Intestinal malrotation, Short finger, Short thorax, Short palm, Lobu... OMIM:269860
Osteopathia Striata-Pigmentary Dermopathy-White Forelock Syndrome
Abnormal metaphysis morphology, Abnormal diaphysis morphology, Abnormal pelvic girdle bone morpho... ORPHA:2779
Metaphyseal Anadysplasia
Abnormal metaphysis morphology, Abnormal ulnar metaphysis morphology, Abnormality of the lower li... ORPHA:1040
Spondyloepiphyseal Dysplasia With Congenital Joint Dislocations
Kyphoscoliosis, Bilateral single transverse palmar creases, Multiple carpal ossification centers,... OMIM:143095
Lethal Recessive Chondrodysplasia
Narrow chest, Respiratory distress, Short long bone, Flared elbow metaphyses, Micromelia, Microgn... ORPHA:1423
Robinow Syndrome, Autosomal Recessive 1
Retrognathia, Hypoplastic sacrum, Radial deviation of finger, Mesomelic arm shortening, Dislocate... OMIM:268310
Pelvis-Shoulder Dysplasia
Clinodactyly of the 5th finger, Spina bifida occulta, Hypoplastic acetabulae, Short clavicles, Hy... OMIM:169550
Orofaciodigital Syndrome Type 3
Thoracic kyphosis, Postaxial hand polydactyly, Pectus excavatum, Abnormality of the dentition, Ir... ORPHA:2752
Congenital Radioulnar Synostosis
Polydactyly, Limited elbow movement, Abnormality of the musculature of the upper arm, Dislocated ... ORPHA:3269
Arthrogryposis, Distal, Type 7
Hammertoe, Metatarsus adductus, Micrognathia, Distal arthrogryposis, Cutaneous syndactyly of toes... OMIM:158300
Otopalatodigital Syndrome, Type Ii
Rocker bottom foot, Kyphoscoliosis, Femoral bowing, Short ribs, Short metacarpal, Tibial bowing, ... OMIM:304120
Pelvis-Shoulder Dysplasia
Aplasia/hypoplasia of the femur, Abnormal form of the vertebral bodies, Dislocated radial head, H... ORPHA:2839
Hypocalcemic Vitamin D-Dependent Rickets
Rickets, Enlargement of the costochondral junction, Delayed epiphyseal ossification, Delayed erup... ORPHA:289157
Epiphyseal Dysplasia, Multiple, 2
Osteochondritis dissecans, Irregular epiphyses, Small epiphyses, Tibial torsion, Knee osteoarthri... OMIM:600204
Bowen-Conradi Syndrome
Rocker bottom foot, Orofacial cleft, Clinodactyly of the 5th finger, Death in infancy, Joint stif... ORPHA:1270
Thrombocytopenia-Absent Radius Syndrome
Meckel diverticulum, Femoral bowing, Death in infancy, Broad thumb, Bilateral radial aplasia, Abs... OMIM:274000
Phocomelia, Schinzel Type
Hypoplasia of the radius, Fibular aplasia, Aplasia of the ulna, Abnormal tibia morphology, Aplasi... ORPHA:2879
Cardiomyopathy, Dilated, 1O
Congestive heart failure, Dilated cardiomyopathy, Ventricular tachycardia, Impaired myocardial co... OMIM:608569
Satb2-Associated Syndrome Due To A Chromosomal Rearrangement
Abnormal hip bone morphology, Dental crowding, Tibial bowing, Microdontia, Broad thumb, Prominent... ORPHA:251028
Spondylometaphyseal Dysplasia With Cone-Rod Dystrophy
Narrow greater sciatic notch, Femoral bowing, Short long bone, Cupped ribs, Tibial bowing, Short ... OMIM:608940
Congenital Insensitivity To Pain With Severe Intellectual Disability
Rocker bottom foot, Congenital bilateral hip dislocation, Tibial bowing, Micrognathia, Limb under... ORPHA:453510
Ulnar Hypoplasia
Hypoplasia of the ulna, Hypoplasia of the radius, Radial dysplasia, Mesomelic arm shortening, Dis... OMIM:191440
Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 1
Clinodactyly of the 5th finger, Ulnar bowing, Proximal radio-ulnar synostosis, Radial bowing, Lim... OMIM:605432
Ulna Metaphyseal Dysplasia Syndrome
Abnormal metaphysis morphology, Abnormal fibula morphology, Abnormal hip bone morphology, Abnorma... ORPHA:1837
Mucolipidosis Ii Alpha/Beta
Short long bone, Flat acetabular roof, Pectus excavatum, Flared iliac wing, Wide mouth, Bullet-sh... OMIM:252500
Microphthalmia With Limb Anomalies
Bilateral single transverse palmar creases, Sandal gap, Abnormal form of the vertebral bodies, Ab... ORPHA:1106
Momo Syndrome
Long foot, Thick lower lip vermilion, Delayed eruption of teeth, High palate, Short sternum, Larg... OMIM:157980
Osteosclerosis-Developmental Delay-Craniosynostosis Syndrome
Brachycephaly, Macrocephaly, Broad jaw, Craniosynostosis, Thickened calvaria ORPHA:178377
Blount Disease, Adolescent
Osteochondritis dissecans, Bowing of the legs, Genu varum OMIM:259200
Diaphanospondylodysostosis
Absent or minimally ossified vertebral bodies, Respiratory distress, Short thorax, Enlarged thora... ORPHA:66637
Osteogenesis Imperfecta, Type Xii
Delayed eruption of teeth, Hyperextensibility of the finger joints, Pectus carinatum, Hypermobili... OMIM:613849
Acrorenal-Mandibular Syndrome
Kyphoscoliosis, Split foot, Hip dislocation, Hypoplasia of the ulna, Hypoplasia of the radius, Na... OMIM:200980
Non-Distal Duplication 10Q
Brachycephaly, Short nose, Microcephaly, Frontal bossing, Micrognathia, Convex nasal ridge, Depre... ORPHA:1695
Cardiomyopathy, Dilated, 1Gg
Congestive heart failure, Dilated cardiomyopathy, Cardiogenic shock, Reduced left ventricular eje... OMIM:613642
Tarp Syndrome
Rocker bottom foot, Talipes equinovarus, Finger syndactyly, Single transverse palmar crease, Scol... ORPHA:2886
Congenital Hemidysplasia With Ichthyosiform Erythroderma And Limb Defects
Absent toe, Short ribs, Hypoplastic pelvis, Syndactyly, Scoliosis, 4-5 toe syndactyly, Aplasia of... OMIM:308050
Cartilage-Hair Hypoplasia
Abnormal bone ossification, Biconvex vertebral bodies, Abnormal hip bone morphology, Abnormal for... ORPHA:175
Atelosteogenesis, Type Ii
Sandal gap, Bifid humerus, Short greater sciatic notch, Flat acetabular roof, Death in infancy, D... OMIM:256050
Dyschondrosteosis-Nephritis Syndrome
Madelung deformity, Ulnar bowing, Microdontia, Micromelia, Aplasia/Hypoplasia of the radius, Radi... ORPHA:1765
Leri-Weill dyschondrostosis (LWD) - SHOX deletion
Limited pronation/supination of forearm, Madelung deformity, Radial bowing DECIPHER:58
Cardiomyopathy, Familial Hypertrophic, 15
Congestive heart failure, Hyperdynamic left ventricular ejection fraction, Left ventricular outfl... OMIM:613255
Stuve-Wiedemann Syndrome 2
Stillbirth, Respiratory distress, Scoliosis, Short long bone, Bowing of the long bones, Camptodac... OMIM:619751
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14
Kyphoscoliosis, Retrognathia, Small proximal tibial epiphyses, Broad distal phalanx of finger, Hy... ORPHA:96334
Osteodysplasty, Precocious, Of Danks, Mayne, And Kozlowski
Short toe, Short finger, Abnormal long bone morphology, Abnormal pelvic girdle bone morphology OMIM:259270
Spondylometaphyseal Dysplasia, 'Corner Fracture' Type
Abnormal bone ossification, Reduced bone mineral density, Biconvex vertebral bodies, Hypoplastic ... ORPHA:93315
Perching Syndrome
Respiratory distress, Scoliosis, High palate, Camptodactyly, Joint contracture, Dysphagia, Feedin... OMIM:617055
Congenital Disorder Of Glycosylation, Type Iy
Widely spaced teeth, Joint dislocation, Respiratory distress, Scoliosis, Micrognathia, Wide mouth... OMIM:300934
Congenital Absence Of Upper Arm And Forearm With Hand Present
Polydactyly, Stillbirth, Abnormal hip bone morphology, Upper limb phocomelia, Cleft palate, Synda... ORPHA:294975
Asperger Syndrome, Susceptibility To, 1
Inflexible adherence to routines, Restrictive behavior, Motor stereotypy OMIM:608638
Asperger Syndrome, Susceptibility To, 2
Inflexible adherence to routines, Restrictive behavior, Motor stereotypy OMIM:608631
Marshall-Smith Syndrome
Short mandibular rami, Kyphoscoliosis, Retrognathia, Prominent fingertip pads, Glossoptosis, Pect... OMIM:602535
Metaphyseal Chondrodysplasia, Schmid Type
Short tubular bones of the hand, Distal femoral metaphyseal irregularity, Femoral bowing, Short l... ORPHA:174
Acromesomelic Dysplasia 1
Cone-shaped epiphyses of the phalanges of the hand, Short metacarpal, Broad metatarsal, Joint hyp... OMIM:602875
Leukodystrophy, Hypomyelinating, 26, With Chondrodysplasia
Retrognathia, Small epiphyses, Scoliosis, Short long bone, Glossoptosis, Knee dislocation, Lumbar... OMIM:620269
Heart-Hand Syndrome Type 2
Abnormal clavicle morphology, Short 4th metacarpal, Abnormal palate morphology, Abnormal shoulder... ORPHA:1350
Robin Sequence With Cleft Mandible And Limb Anomalies
Cleft lower alveolar ridge, Mesomelic arm shortening, Proximal placement of thumb, Short metacarp... OMIM:268305
Tibial Torsion, Bilateral Medial
Scoliosis, Bowing of the legs, Tibial torsion OMIM:188800
Neurodevelopmental Disorder With Growth Retardation, Dysmorphic Facies, And Corpus Callosum Abnormalities
Clinodactyly of the 5th toe, Retrognathia, Clinodactyly of the 5th finger, Proximal placement of ... OMIM:620113
Hyperinsulinemic Hypoglycemia, Familial, 2
Nesidioblastosis, Pancreatic islet-cell hyperplasia OMIM:601820
Carvajal Syndrome
Congestive heart failure, Dilated cardiomyopathy ORPHA:65282
Acrorenal Syndrome
Abnormal tibia morphology, Split hand, Micrognathia, Abnormal morphology of ulna, Cleft palate, A... ORPHA:971
Arrhythmogenic Right Ventricular Dysplasia, Familial, 5
Presyncope, Congestive heart failure, Right ventricular cardiomyopathy, Palpitations, Premature v... OMIM:604400
Osteogenesis Imperfecta, Type Xix
Osteopenia, Rhizomelia, Vertebral wedging, Pectus carinatum, Scoliosis, Pectus excavatum, Multipl... OMIM:301014
Orofaciodigital Syndrome Vi
Radial deviation of finger, Tibial bowing, Accessory oral frenulum, Tongue nodules, Clinodactyly,... OMIM:277170
Cardiomyopathy, Dilated, 1G
Congestive heart failure, Reduced left ventricular ejection fraction, Atrial fibrillation, Premat... OMIM:604145
X-Linked Intellectual Disability, Sutherland-Haan Type
Brachycephaly, Mandibular prognathia, Decreased body weight, Microcephaly, Hypoplasia of the maxi... ORPHA:93950
Familial Progressive Cardiac Conduction Defect
Congestive heart failure, Heart block, Bundle branch block, Arrhythmia, Syncope ORPHA:871
Premature Aging Syndrome, Penttinen Type
Retrognathia, Tibial bowing, Flexion contracture of finger, Cervical ribs, Short distal phalanx o... OMIM:601812
Spondyloepimetaphyseal Dysplasia, Strudwick Type
Narrow greater sciatic notch, Genu valgum, Delayed pubic bone ossification, Metaphyseal dappling,... OMIM:184250
Cardiomyopathy, Dilated, 1V
Congestive heart failure, Left bundle branch block, Reduced left ventricular ejection fraction, A... OMIM:613697
Mesomelic Dysplasia, Savarirayan Type
Fibular aplasia, Fibular hypoplasia, Abnormality of the hand, Abnormal foot morphology, Anterior ... OMIM:605274
Cardiomyopathy, Familial Hypertrophic, 1
Congestive heart failure, Arrhythmia, Asymmetric septal hypertrophy OMIM:192600
Grant Syndrome
Abnormal palate morphology, Abnormal cortical bone morphology, Narrow chest, Joint dislocation, W... ORPHA:2097
Scarf Syndrome
Long philtrum, Abnormal form of the vertebral bodies, Pectus carinatum, Short sternum, Enamel hyp... ORPHA:3134
Geroderma Osteodysplasticum
Osteopenia, Kyphoscoliosis, Beaking of vertebral bodies, Vertebral compression fracture, Periodon... OMIM:231070
Pierre Robin Syndrome And Oligodactyly
Micrognathia, Pierre-Robin sequence, Cleft palate, Finger aplasia OMIM:172880
Autosomal Dominant Otospondylomegaepiphyseal Dysplasia
Abnormal metacarpal morphology, Pectus carinatum, Glossoptosis, Pectus excavatum, Micrognathia, C... ORPHA:166100
Hypophosphatemic Rickets, X-Linked Recessive
Rickets, Hypophosphatemic rickets, Fibular bowing, Delayed epiphyseal ossification, Enlargement o... OMIM:300554
Mueller-Weiss Syndrome
Equinovarus deformity, Fragmented, irregular epiphyses, Talipes calcaneovarus, Joint subluxation,... ORPHA:566943
Glass Syndrome
Anterior tibial bowing, Conical tooth, Dental crowding, Oligodontia, Gingival overgrowth, High pa... OMIM:612313
Short Stature, Amelogenesis Imperfecta, And Skeletal Dysplasia With Scoliosis
Kyphoscoliosis, Short long bone, Hyperlordosis, Knee dislocation, Tooth agenesis, Thoracic hypopl... OMIM:618363
Autosomal Recessive Hypophosphatemic Rickets
Polyarticular arthritis, Tibial bowing, Craniosynostosis, Genu varum, Rickets of the lower limbs,... ORPHA:289176
Neurogenic Arthrogryposis Multiplex Congenita
Rocker bottom foot, Equinovarus deformity, Ankle flexion contracture, Respiratory distress, Scoli... ORPHA:1143
Spondylo-Megaepiphyseal-Metaphyseal Dysplasia
Kyphoscoliosis, Delayed pubic bone ossification, Proximal placement of thumb, Hypoplastic iliac w... OMIM:613330
Bartsocas-Papas Syndrome 1
Hypoplastic iliac wing, Oligodactyly, Short metacarpal, Absent thumb, Syndactyly, Absent palmar c... OMIM:263650
Aase-Smith Syndrome
Abnormal hip bone morphology, Scoliosis, Slender finger, Joint stiffness, Camptodactyly of finger... ORPHA:916
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency
Rocker bottom foot, Proximal tibial and fibular fusion, Femoral bowing, Short metacarpal, Arachno... ORPHA:95699
Bowen-Conradi Syndrome
Rocker bottom foot, Micrognathia, Clinodactyly of the 5th finger, Abnormal joint morphology OMIM:211180
Short-Rib Thoracic Dysplasia 16 With Or Without Polydactyly
Widely spaced teeth, Short metatarsal, Sandal gap, Cone-shaped epiphyses of the phalanges of the ... OMIM:617102
Langer Mesomelic Dysplasia
Abnormal carpal morphology, Madelung deformity, Mesomelic/rhizomelic limb shortening, High palate... ORPHA:2632
Cardiomyopathy, Dilated, 1C, With Or Without Left Ventricular Noncompaction
Congestive heart failure, Left bundle branch block, Ventricular arrhythmia, Increased left ventri... OMIM:601493
Cornelia De Lange Syndrome 1
Proximal placement of thumb, Dislocated radial head, Malrotation of colon, Long philtrum, Hypopla... OMIM:122470
Osteosclerosis With Ichthyosis And Fractures
Increased bone mineral density, Femoral bowing, Tibial bowing, Cortical thickening of long bone d... OMIM:166740
Turnpenny-Fry Syndrome
Hypoplasia of the primary teeth, Pectus carinatum, Dental crowding, Thoracic kyphoscoliosis, Pect... OMIM:618371
Kyphomelic Dysplasia
Abnormal metaphysis morphology, Lateral clavicle hook, Narrow chest, Abnormal form of the vertebr... ORPHA:1801
Upper Limb Mesomelic Dysplasia
Hypoplasia of the ulna, Radial bowing, Ulnar deviation of finger ORPHA:2497
Cleidocranial Dysplasia, Recessive Form
Brachycephaly OMIM:216330
Mesomelic Dwarfism-Cleft Palate-Camptodactyly Syndrome
Abnormal metaphysis morphology, Thin vermilion border, Retrognathia, Abnormal hip bone morphology... ORPHA:2631
Brachydactyly-Mesomelia-Intellectual Disability-Heart Defects Syndrome
Abnormal palate morphology, Abnormal shoulder morphology, Tooth agenesis, Micrognathia, Mesomelia... ORPHA:1277
Ulna And Fibula, Absence Of, With Severe Limb Deficiency
Aplasia/hypoplasia of the femur, Carpal bone aplasia, Aplasia/Hypoplasia of the phalanges of the ... OMIM:276820
Baller-Gerold Syndrome
Limited elbow movement, Carpal bone aplasia, Oligodactyly, Short humerus, Absent thumb, Bifid uvu... OMIM:218600
Incessant Infant Ventricular Tachycardia
Congestive heart failure, Wolff-Parkinson-White syndrome, Histiocytoid cardiomyopathy, Supraventr... ORPHA:45453
Rhyns Syndrome
Osteopenia, Short long bone, Osteoporosis, Radial bowing, Brachydactyly, Short femoral neck OMIM:602152
Cardiomyopathy, Familial Hypertrophic, 14
Congestive heart failure, Left ventricular outflow tract obstruction, Right bundle branch block, ... OMIM:613251
Autism, Susceptibility To, X-Linked 3
Inflexible adherence to routines, Restrictive behavior, Motor stereotypy OMIM:300496
Autism, Susceptibility To, X-Linked 1
Inflexible adherence to routines, Restrictive behavior, Motor stereotypy OMIM:300425
Caffey Disease
Subperiosteal bone formation, Calvarial hyperostosis, Tibial bowing, Periosteal thickening of lon... OMIM:114000
Mitochondrial Complex I Deficiency, Nuclear Type 30
Congestive heart failure, Neonatal death OMIM:301021
Metaphyseal Dysplasia Without Hypotrichosis
Metaphyseal striations, Cone-shaped epiphyses of the phalanges of the hand, Short long bone, Shor... OMIM:250460
Diastrophic Dysplasia
Kyphoscoliosis, Short finger, Genu valgum, Irregular epiphyses, Laryngotracheal stenosis, Talipes... OMIM:222600
17Q21.31 Microduplication Syndrome
Short nose, Anteverted nares, Microcephaly, Failure to thrive, Micrognathia, Malar flattening ORPHA:217340
Cardiomyopathy, Dilated, 1Nn
Congestive heart failure, Reduced left ventricular ejection fraction, Abnormal ST segment, Ventri... OMIM:615916
Fibrochondrogenesis 2
Bell-shaped thorax, Metaphyseal cupping, Hypoplastic pubic bone, Short long bone, Short ribs, Cup... OMIM:614524
Fetal Akinesia Deformation Sequence 4
Rocker bottom foot, Retrognathia, 11 pairs of ribs, High palate, Camptodactyly, Kyphosis, Prenata... OMIM:618393
Ghosal Hematodiaphyseal Dysplasia
Abnormal metaphysis morphology, Diaphyseal undertubulation, Abnormal femur morphology, Abnormal t... ORPHA:1802
Pyknoachondrogenesis
Short iliac bones, Abdominal distention, Craniofacial hyperostosis, Abnormality of mouth shape, A... ORPHA:3003
Trochlea Of The Humerus, Aplasia Of
Short humerus, Cleft palate OMIM:191000
Ulbright-Hodes Syndrome
Short ribs, Short metacarpal, Short humerus, Abnormal forearm bone morphology, Mesomelia, Hypopla... ORPHA:3404
Endocrine-Cerebroosteodysplasia
Sandal gap, Tibial bowing, Syndactyly, Bilateral cleft lip, Fibular bowing, Micromelia, Ulnar dev... OMIM:612651
Symbrachydactyly Of Hands And Feet
Aplasia/Hypoplasia of the thumb, Scoliosis, Vertebral segmentation defect, Abnormality of the hum... ORPHA:1570
Holt-Oram Syndrome
Aplasia of the pectoralis major muscle, Proximal placement of thumb, Cervical C2/C3 vertebral fus... OMIM:142900
Moebius Syndrome
Radial deviation of finger, Bifid uvula, Syndactyly, Dysphagia, Aplasia/Hypoplasia involving the ... OMIM:157900
Cardiomyopathy, Dilated, 2F
Congestive heart failure, Increased left ventricular end-diastolic volume, Ventricular fibrillati... OMIM:619747
Metatropic Dysplasia
Narrow greater sciatic notch, Kyphoscoliosis, Relatively short spine, Short ribs, Long coccyx, Cu... OMIM:156530
Pyle Disease
Limited elbow extension, Genu valgum, Reduced bone mineral density, Cubitus valgus, Delayed erupt... OMIM:265900
Chromosome 15Q11-Q13 Duplication Syndrome
Restrictive behavior, Truncal ataxia, Inflexible adherence to routines, Unsteady gait, Motor ster... OMIM:608636
Lethal Kniest-Like Dysplasia
Abnormal ischium morphology, Abnormal cartilage matrix, Platyspondyly, Narrow chest, Flared metap... ORPHA:2347
Cardiomyopathy, Dilated, 1Kk
Congestive heart failure, Atrial fibrillation, Hypertrophic cardiomyopathy, Increased left ventri... OMIM:615248
X-Linked Intellectual Disability-Plagiocephaly Syndrome
Brachycephaly, Plagiocephaly, Flat occiput, Microcephaly ORPHA:2898
Intellectual Developmental Disorder With Nasal Speech, Dysmorphic Facies, And Variable Skeletal Anomalies
Clinodactyly of the 5th finger, Tooth malposition, 2-3 toe syndactyly, Scoliosis, Feeding difficu... OMIM:618608
Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans
Rhizomelia, Narrow chest, Gastroesophageal reflux, Respiratory distress, Wide anterior fontanel, ... OMIM:616482
Scarf Syndrome
Lambdoidal craniosynostosis, Barrel-shaped chest, Abnormal form of the vertebral bodies, Pectus c... OMIM:312830
Schinzel-Giedion Midface Retraction Syndrome
Long clavicles, Short 1st metacarpal, Wide distal femoral metaphysis, Talipes equinovarus, Single... OMIM:269150
Mesomelic Dysplasia, Kantaputra Type
Tarsal synostosis, Mesomelia, Carpal synostosis, Radial bowing OMIM:156232
Cardiomyopathy, Dilated, 2J
Congestive heart failure, Dilated cardiomyopathy, Severely reduced left ventricular ejection frac... OMIM:620635
Acromesomelic Dysplasia 2A
Hypoplasia of the ulna, Hypoplasia of the radius, Fibular hypoplasia, Aplasia/Hypoplasia of metat... OMIM:200700
Spondyloepimetaphyseal Dysplasia, Di Rocco Type
Reduced bone mineral density, Delayed ossification of carpal bones, Irregular acetabular roof, Me... OMIM:617974
Dysspondyloenchondromatosis
Kyphoscoliosis, Abnormal ulnar metaphysis morphology, Abnormal fibula morphology, Genu valgum, Pl... ORPHA:85198
Intellectual Developmental Disorder, Autosomal Dominant 50, With Behavioral Abnormalities
Attention deficit hyperactivity disorder, Motor stereotypy OMIM:617787
Dent Disease 1
Rickets, Fibular bowing, Delayed epiphyseal ossification, Enlargement of the wrists, Enlargement ... OMIM:300009
Pseudoachondroplasia
Abnormal form of the vertebral bodies, Short long bone, Flat acetabular roof, Increased laxity of... ORPHA:750
Intellectual Developmental Disorder With Autism And Speech Delay
Inability to walk, Motor stereotypy OMIM:606053
Cardiomyopathy, Dilated, 1R
Congestive heart failure, Restrictive cardiomyopathy, Ventricular arrhythmia, Increased left vent... OMIM:613424
Spondyloepimetaphyseal Dysplasia, Borochowitz-Cormier-Daire Type
Narrow greater sciatic notch, Limited elbow extension, Irregular epiphyses, Dysplastic iliac wing... OMIM:608728
Developmental Delay With Hypotonia, Myopathy, And Brain Abnormalities
Brachycephaly, Progressive microcephaly, Microcephaly, Failure to thrive, Micrognathia, Flexion c... OMIM:620240
Epiphyseal Dysplasia, Multiple, With Severe Proximal Femoral Dysplasia
Abnormality of the hand, Flared femoral metaphysis, Genu valgum, Flat distal femoral epiphysis, A... OMIM:609324
Pierre Robin Syndrome
Glossoptosis, Micrognathia, Pierre-Robin sequence, Cleft palate, Feeding difficulties in infancy OMIM:261800
Arthrogryposis, Distal, Type 1C
Rocker bottom foot, Retrognathia, Wrist flexion contracture, Bifid uvula, Adducted thumb, Scolios... OMIM:619110
Distal Arthrogryposis Type 1
Rocker bottom foot, Talipes, Abnormal hip bone morphology, Narrow mouth, Joint stiffness, Camptod... ORPHA:1146
Arthrogryposis, Distal, Type 3
Kyphoscoliosis, Pectus excavatum, Bifid uvula, Overlapping toe, Scoliosis, Ulnar deviation of the... OMIM:114300
Mesomelia-Synostoses Syndrome
Narrow foot, Carpometacarpal synostosis, Abnormal vertebral morphology, Short metatarsal, Metacar... OMIM:600383
Rhizomelic Syndrome, Urbach Type
Triphalangeal thumb, Rhizomelia, Abnormal form of the vertebral bodies, Abnormality of the elbow,... ORPHA:3098
Autism
Inflexible adherence to routines, Restrictive behavior, Motor stereotypy OMIM:209850
Autism, Susceptibility To, 8
Inflexible adherence to routines, Restrictive behavior, Motor stereotypy OMIM:607373
Peroxisome Biogenesis Disorder 8A (Zellweger)
Death in infancy, Glossoptosis, Feeding difficulties in infancy, Epiphyseal stippling OMIM:614876
Spondyloepimetaphyseal Dysplasia Congenita, Strudwick Type
Restricted large joint movement, Abnormal vertebral morphology, Small epiphyses, Flared metaphysi... ORPHA:93346
Potocki-Shaffer Syndrome
Brachycephaly, Parietal foramina, Depressed nasal tip, Micrognathia, Broad nasal tip, Prominent n... ORPHA:52022
Achondrogenesis, Type Ii
Short tubular bones of the hand, Stillbirth, Abnormal foot morphology, Barrel-shaped chest, Hypop... OMIM:200610
Diastrophic Dysplasia
Proximal placement of thumb, Abnormal form of the vertebral bodies, Kyphosis, Joint stiffness, Sy... ORPHA:628
Autosomal Recessive Cerebellar Ataxia-Epilepsy-Intellectual Disability Syndrome Due To Tud Deficiency
Brachycephaly ORPHA:404493
Intellectual Developmental Disorder, Autosomal Recessive 58
Pica, Motor stereotypy, Self-injurious behavior, Choreoathetosis, Aggressive behavior OMIM:617270
Intellectual Developmental Disorder, Autosomal Dominant 26
Brachycephaly, Inguinal hernia, Anteverted nares, Prominent nasal tip, Microcephaly, Micrognathia... OMIM:615834
Congenital Myopathy 10A, Severe Variant
Gastroesophageal reflux, Respiratory distress, Tongue fasciculations, Scoliosis, High palate, Pec... OMIM:614399
Multiple Synostoses Syndrome 3
Limited interphalangeal movement, Metacarpal synostosis, Humeroradial synostosis, Broad thumb, Ha... OMIM:612961
Oncogenic Osteomalacia
Abnormal fibula morphology, Abnormal femur morphology, Abnormal vertebral morphology, Abnormal fo... ORPHA:352540
Cardiomyopathy, Dilated, 1Oo
Congestive heart failure, Reduced left ventricular ejection fraction, Premature ventricular contr... OMIM:620247
Chondrodysplasia With Joint Dislocations, Gpapp Type
Limited elbow extension, Capitate-hamate fusion, Genu valgum, Irregular epiphyses of the metacarp... OMIM:614078
Fibular Aplasia-Complex Brachydactyly Syndrome
Bilateral single transverse palmar creases, Abnormal thumb morphology, Tarsal synostosis, Abnorma... ORPHA:2639
Meier-Gorlin Syndrome 1
Absent sternal ossification, Pectus carinatum, Short ribs, Microdontia, Death in infancy, Joint h... OMIM:224690
Microcephaly-Microcornea Syndrome, Seemanova Type
Brachycephaly, Retrognathia, Microcephaly ORPHA:2528
Larsen-Like Osseous Dysplasia-Short Stature Syndrome
Abnormal metaphysis morphology, Thin vermilion border, Reduced bone mineral density, Clinodactyly... ORPHA:2370
Restrictive Dermopathy 2
Rectal prolapse, Gastroesophageal reflux, Respiratory distress, Short clavicles, Overtubulated lo... OMIM:619793
Auriculocondylar Syndrome 2A
Short mandibular rami, Respiratory distress, Mandibular condyle hypoplasia, Dental crowding, Temp... OMIM:614669
Potocki-Shaffer Syndrome
Brachycephaly, Short nose, Turricephaly, Parietal foramina, Wide nasal bridge, Underdeveloped nas... OMIM:601224
Hypophosphatasia, Childhood
Carious teeth, Rachitic rosary, Premature loss of primary teeth, Craniosynostosis, Bowing of the ... OMIM:241510
Infantile-Onset X-Linked Spinal Muscular Atrophy
Kyphoscoliosis, Ankle flexion contracture, Respiratory distress, Tongue fasciculations, Short rib... ORPHA:1145
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly
Lateral clavicle hook, Hypoplasia of the radius, Narrow chest, Respiratory distress, Short ribs, ... OMIM:617895
Congenital Arthrogryposis With Anterior Horn Cell Disease
Rocker bottom foot, Retrognathia, Single transverse palmar crease, Scoliosis, High palate, Arefle... OMIM:611890
Imperforate Oropharynx-Costovertebral Anomalies Syndrome
Clinodactyly of the 5th finger, Abnormal form of the vertebral bodies, Respiratory distress, Abno... ORPHA:2759
Intellectual Developmental Disorder, X-Linked, Syndromic, Wu Type
Brachycephaly, Slender build, Macrocephaly OMIM:300699
Fibular Aplasia, Tibial Campomelia, And Oligosyndactyly Syndrome
Fibular aplasia, Abnormality of the hand, Tibial bowing, Finger aplasia, Foot oligodactyly, Synda... OMIM:246570
Boomerang Dysplasia
Abnormal bone ossification, Abnormal femur morphology, Abnormal tibia morphology, Abnormal metaca... ORPHA:1263
Femoral-Facial Syndrome
Abnormal fibula morphology, Orofacial cleft, Scoliosis, Vertebral segmentation defect, Abnormal p... ORPHA:1988
Cleft Palate, Deafness, And Oligodontia
Cleft soft palate, Sandal gap, Short hallux, Agenesis of permanent teeth, Oligodontia of primary ... OMIM:216300
Epiphyseal Dysplasia, Multiple, 5
Genu valgum, Irregular epiphyses, Small epiphyses, Arthralgia of the hip, Delayed ossification of... OMIM:607078
Orofaciodigital Syndrome Type 10
Retrognathia, Mesomelic arm shortening, Oligodactyly, Prominent calcaneus, Long philtrum, Accesso... ORPHA:2756
Mosaic Variegated Aneuploidy Syndrome 1
Triangular mouth, Short sternum, Micrognathia, Cleft palate, Malar flattening, Long philtrum, Fee... OMIM:257300
Donnai-Barrow Syndrome
Intestinal malrotation, Short sternum, Wide anterior fontanel, Malar flattening OMIM:222448
Whistling Face Syndrome, Recessive Form
Kyphoscoliosis, Long philtrum, Trismus, Shoulder flexion contracture, Elbow flexion contracture, ... OMIM:277720
Severe Achondroplasia-Developmental Delay-Acanthosis Nigricans Syndrome
Abnormal clavicle morphology, Fibular bowing, Tibial bowing, Femoral bowing, Metaphyseal chondrod... ORPHA:85165
Spondyloepiphyseal Dysplasia, Stanescu Type
Kyphoscoliosis, Beaking of vertebral bodies, Internal tibial torsion, Stiff neck, Vertebral wedgi... OMIM:616583
Faciocardiomelic Dysplasia, Lethal
Hypoplasia of the ulna, Hypoplasia of the radius, Fibular hypoplasia, Retrognathia, Talipes, Sing... OMIM:227270
Spondyloepimetaphyseal Dysplasia, Shohat Type
Narrow greater sciatic notch, Short ribs, Metaphyseal irregularity, Joint hypermobility, Genu var... OMIM:602557
Multiple Epiphyseal Dysplasia Type 1
Genu valgum, Knee joint hypermobility, Arthralgia of the hip, Delayed epiphyseal ossification, Sh... ORPHA:93308
Cebalid Syndrome
Brachycephaly, Plagiocephaly, Congenital diaphragmatic hernia, Turricephaly, Short nose, Antevert... OMIM:618774
Rhiny
Short nose, Anteverted nares, Inguinal hernia OMIM:180360
Endosteal Hyperostosis, Worth Type
Diaphyseal undertubulation, Clavicular sclerosis, Sclerotic vertebral body, Abnormal cortical bon... ORPHA:2790
Spondyloepiphyseal Dysplasia Congenita
Limited elbow movement, Delayed pubic bone ossification, Limitation of knee mobility, Pectus cari... OMIM:183900
Acrodysostosis
Abnormal femur morphology, Abnormal form of the vertebral bodies, Short metacarpal, Cone-shaped e... ORPHA:950
Satb2-Associated Syndrome Due To A Pathogenic Variant
Osteopenia, Long philtrum, Abnormality of the hand, Clinodactyly of the 5th finger, Gastroesophag... ORPHA:576283
Rhizomelic Chondrodysplasia Punctata, Type 3
Short femur, Short humerus, Rhizomelia, Epiphyseal stippling OMIM:600121
Familial Anetoderma
High, narrow palate, Abnormal tibia morphology, Irregular dentition, Lumbar hyperlordosis, Genera... ORPHA:228277
Dysostosis Multiplex, Ain-Naz Type
Elongated femoral neck, Abdominal distention, Glenoid fossa hypoplasia, Hypoplastic iliac wing, S... OMIM:619345
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome
Abnormal metaphysis morphology, Abnormal clavicle morphology, Rhizomelia, Proximal placement of t... ORPHA:93267
Anauxetic Dysplasia 3
Retrognathia, Femoral bowing, Short metacarpal, Pectus excavatum, Trident hand, Joint hypermobili... OMIM:618853
Tumoral Calcinosis, Hyperphosphatemic, Familial, 2
Radial bowing OMIM:617993
Schinzel-Giedion Syndrome
Kyphoscoliosis, Stiff elbow, Retrognathia, Broad alveolar ridges, Tibial bowing, Wide mouth, Dysp... ORPHA:798
Cardiomyopathy, Familial Hypertrophic, 8
Congestive heart failure, Reduced left ventricular ejection fraction, Palpitations, Restrictive c... OMIM:608751
Diaphanospondylodysostosis
Absent in utero rib ossification, Hammertoe, Bell-shaped thorax, Tracheomalacia, Respiratory dist... OMIM:608022
Spondyloepiphyseal Dysplasia Tarda
Kyphoscoliosis, Limited elbow movement, Spurred metaphyses of the upper limbs, Enlarged metaphyse... ORPHA:93284
Craniometadiaphyseal Dysplasia, Wormian Bone Type
Short tubular bones of the hand, Osteopenia, Abnormal foot morphology, Abnormal diaphysis morphol... ORPHA:85184
Ventricular Extrasystoles With Syncopal Episodes-Perodactyly-Robin Sequence Syndrome
Short 4th metacarpal, High, narrow palate, Joint dislocation, Hypodontia, Tapered finger, Glossop... ORPHA:3201
N-Acetylaspartate Deficiency
Broad-based gait, Truncal ataxia, Unsteady gait, Motor stereotypy, Self-mutilation OMIM:614063
Mucopolysaccharidosis, Type Ix
Acetabular erosions, Hyperextensibility at elbow, Periarticular soft-tissue mass, Synovitis, Lumb... OMIM:601492
Multiple Epiphyseal Dysplasia Due To Collagen 9 Anomaly
Abnormality of the epiphyses of the elbow, Genu valgum, Ulnar deviated club hands, Arthralgia of ... ORPHA:166002
X-Linked Hypophosphatemia
Reduced bone mineral density, Flared iliac wing, Abnormal epiphysis morphology, Craniosynostosis,... ORPHA:89936
Metatropic Dysplasia
Abnormal metaphysis morphology, Clinodactyly of the 5th finger, Abnormal cortical bone morphology... ORPHA:2635
Clark-Baraitser Syndrome
Brachycephaly, Short nose, Low hanging columella, Anteverted nares, Microcephaly, Obesity, Dolich... OMIM:617752
Arrhythmogenic Right Ventricular Dysplasia, Familial, 8
Congestive heart failure, Right ventricular cardiomyopathy, Premature ventricular contraction, Ve... OMIM:607450
Lethal Osteosclerotic Bone Dysplasia
Retrognathia, Gingival fibromatosis, Respiratory distress, Gingival overgrowth, Delayed cranial s... ORPHA:1832
Exostoses, Multiple, Type Ii
Genu valgum, Protuberances at ends of long bones, Rib exostoses, Scapular exostoses, Short metaca... OMIM:133701
Exostoses, Multiple, Type I
Genu valgum, Protuberances at ends of long bones, Rib exostoses, Scapular exostoses, Short metaca... OMIM:133700
Chondrodysplasia, Blomstrand Type
Stillbirth, Abnormal vertebral morphology, Narrow chest, Flared metaphysis, Generalized osteoscle... OMIM:215045
Thoracomelic Dysplasia
Abnormal metaphysis morphology, Abnormal fibula morphology, Diaphyseal undertubulation, Genu valg... ORPHA:1803
Cardiac Conduction Disease With Or Without Dilated Cardiomyopathy
Congestive heart failure, Atrial flutter, Left anterior fascicular block, Atrial fibrillation, Pr... OMIM:616117
Ulnar-Mammary Syndrome
Aplasia of the 4th metacarpal, Stiff elbow, Short humerus, Absent radius, Aplasia of the 3rd meta... OMIM:181450
Joubert Syndrome 18
Kyphoscoliosis, Retrognathia, Bowing of the long bones, Camptodactyly, Postaxial polydactyly, Cle... OMIM:614815
Melnick-Needles Syndrome
Cone-shaped epiphyses of the phalanges of the hand, Short distal phalanx of finger, Joint hypermo... ORPHA:2484
Osteogenesis Imperfecta, Type Vi
Beaking of vertebral bodies, Vertebral compression fracture, Coxa vara, Biconcave vertebral bodie... OMIM:613982
Hypocalcemic Vitamin D-Resistant Rickets
Abnormal metaphysis morphology, Genu valgum, Abnormal hip bone morphology, Joint dislocation, Abn... ORPHA:93160
Intellectual Developmental Disorder With Language Impairment And With Or Without Autistic Features
Retrognathia, Short nose, Macrocephaly, Obesity, Broad nasal tip, Malar flattening, Failure to th... OMIM:613670
Hereditary Butyrylcholinesterase Deficiency
Congestive heart failure, Myocardial infarction ORPHA:132
Osteopathia Striata-Cranial Sclerosis Syndrome
Abnormal metaphysis morphology, Retrognathia, Osteopetrosis, High, narrow palate, Asymmetry of th... ORPHA:2780
Cerebrooculofacioskeletal Syndrome 3
Rocker bottom foot, Micrognathia, Cleft palate, Arthrogryposis multiplex congenita, Talipes equin... OMIM:616570
Spondyloperipheral Dysplasia-Short Ulna Syndrome
Hypoplasia of the ulna, Limited elbow extension, Type E brachydactyly, Irregular epiphyses, Delay... ORPHA:1856
Intellectual Developmental Disorder, X-Linked 1
Brachycephaly, Secondary microcephaly OMIM:309530
Rhizomelic Dysplasia, Ain-Naz Type
Rhizomelia, Wide distal femoral metaphysis, Limitation of joint mobility, Hypoplasia of the femor... OMIM:619598
Epiphyseal Dysplasia, Multiple, 7
Monkey wrench femoral neck, Vertebral wedging, Flat acetabular roof, Epiphyseal dysplasia, Hypopl... OMIM:617719
Acromegaloid Facial Appearance Syndrome
Tapered finger, Micrognathia, Large hands, Thick vermilion border, Joint hypermobility, Deep phil... OMIM:102150
Smith-Magenis syndrome
Hyperactivity, Self-mutilation, Motor stereotypy DECIPHER:8
Achondrogenesis, Type Ib
Absent or minimally ossified vertebral bodies, Stillbirth, Abdominal distention, Narrow chest, Sh... OMIM:600972
Rhizomelic Chondrodysplasia Punctata, Type 2
Osteopenia, Rhizomelia, Epiphyseal stippling, Scoliosis, Stippled calcification proximal humeral ... OMIM:222765
Greenberg Dysplasia
Abnormal bone ossification, Rhizomelia, Narrow chest, Abnormal form of the vertebral bodies, Abno... ORPHA:1426
Cataract-Intellectual Disability-Hypogonadism Syndrome
Abnormality of the hand, Short philtrum, Tooth malposition, Scoliosis, Hyperlordosis, High palate... ORPHA:1387
Developmental And Epileptic Encephalopathy 73
Short nose, Inguinal hernia, Narrow nasal bridge, Microcephaly, Failure to thrive, Flexion contra... OMIM:618379
Osteogenesis Imperfecta, Type V
Osteopenia, Anterior radial head dislocation, Platyspondyly, Vertebral wedging, Hyperextensibilit... OMIM:610967
Dyggve-Melchior-Clausen Disease
Abnormal hip bone morphology, Abnormal femoral head morphology, Pectus carinatum, Short long bone... ORPHA:239
Arthrogryposis Multiplex Congenita-Whistling Face Syndrome
Thin vermilion border, Abnormal palate morphology, Abnormal shoulder morphology, Whistling appear... ORPHA:1150
Craniodigital-Intellectual Disability Syndrome
Brachycephaly, Short nose, Micrognathia, Narrow nasal bridge ORPHA:1514
Multiple Epiphyseal Dysplasia Type 5
Genu valgum, Arthralgia of the hip, Intervertebral disk degeneration, Abnormality of the epiphyse... ORPHA:93311
Cerebrocostomandibular Syndrome
Anomalous rib insertion to vertebrae, Glossoptosis, Short humerus, Thoracic hypoplasia, Long phil... OMIM:117650
Pseudoachondroplasia
Short long bone, Short metacarpal, Kyphosis, Metaphyseal irregularity, Short distal phalanx of fi... OMIM:177170
Achondrogenesis Type 1A
Abdominal distention, Narrow chest, Short thorax, Recurrent fractures, Short foot, Abnormal encho... ORPHA:93299
Arthrogryposis Multiplex Congenita 1, Neurogenic, With Myelin Defect
Retrognathia, Ankle flexion contracture, Stillbirth, Dental crowding, Elbow flexion contracture, ... OMIM:617468
Neurodevelopmental Disorder With Structural Brain Anomalies And Dysmorphic Facies
Brachycephaly, Plagiocephaly, Short nose, Anteverted nares, Micrognathia, Unilambdoid synostosis,... OMIM:618577
Endocardial Fibroelastosis
Congestive heart failure, Restrictive cardiomyopathy, Cryptorchidism, Hypoplasia of penis ORPHA:2022
Femur-Fibula-Ulna Complex
Abnormal femur morphology, Finger syndactyly, Split hand, Micromelia, Humeroradial synostosis, Sh... ORPHA:2019
Intellectual Developmental Disorder, X-Linked, Syndromic 12
Brachycephaly, Mandibular prognathia OMIM:309545
Osteogenesis Imperfecta, Type Xxi
Platyspondyly, Bell-shaped thorax, Barrel-shaped chest, Scoliosis, Wormian bones, Pectus excavatu... OMIM:619131
Left Ventricular Noncompaction 1
Congestive heart failure, Palpitations, Atrial fibrillation, Noncompaction cardiomyopathy, Left v... OMIM:604169
Pallister-Hall-Like Syndrome
Short ribs, Postaxial hand polydactyly, Micromelia, Death in infancy, Micrognathia, Cleft palate,... OMIM:241800
Spondyloepimetaphyseal Dysplasia, Irapa Type
Pectus carinatum, Short metacarpal, Hypoplastic pelvis, Abnormal epiphysis morphology, Broad palm... ORPHA:93351
Endosteal Hyperostosis, Autosomal Dominant
Clavicular sclerosis, Sclerotic vertebral body, Metacarpal diaphyseal endosteal sclerosis, Hypero... OMIM:144750
Hydrops Fetalis, Nonimmune
Congestive heart failure OMIM:236750
Craniometadiaphyseal Dysplasia
Osteopenia, Genu valgum, Cubitus valgus, Flared metaphysis, Dental crowding, Scoliosis, Wormian b... OMIM:269300
Atelosteogenesis Type Ii
Sandal gap, Tracheobronchomalacia, Bilateral cleft palate, Short ribs, Short metacarpal, Short lo... ORPHA:56304
Split-Foot Deformity With Mandibulofacial Dysostosis
Split hand, Split foot, Micrognathia, Cleft palate, Malar flattening, Toe syndactyly OMIM:183700
Turner Syndrome Due To Structural X Chromosome Anomalies
Retrognathia, Reduced bone mineral density, Enlarged thorax, Pectus excavatum, Kyphosis, Abnormal... ORPHA:99413
Mosaic Monosomy X
Retrognathia, Reduced bone mineral density, Enlarged thorax, Pectus excavatum, Kyphosis, Abnormal... ORPHA:99228
Monosomy X
Retrognathia, Reduced bone mineral density, Enlarged thorax, Pectus excavatum, Kyphosis, Abnormal... ORPHA:99226
Turner Syndrome
Retrognathia, Reduced bone mineral density, Enlarged thorax, Pectus excavatum, Kyphosis, Abnormal... ORPHA:881
Robinow Syndrome, Autosomal Dominant 2
Kyphoscoliosis, Dental crowding, Broad thumb, Mesomelia, Wide mouth, Long philtrum, Short distal ... OMIM:616331
Spondyloepimetaphyseal Dysplasia, Shohat Type
Generalized bone demineralization, Short long bone, Hyperlordosis, Thoracic hypoplasia, Metaphyse... ORPHA:93352
Craniosynostosis-Hydrocephalus-Arnold-Chiari Malformation Type I-Radioulnar Synostosis Syndrome
Brachycephaly, Short nose, Turricephaly, Anteverted nares, Micrognathia, Obesity, Malar flattenin... ORPHA:171839
Spondyloepiphyseal Dysplasia Congenita
Limited elbow movement, Reduced bone mineral density, Short long bone, Flat acetabular roof, Abno... ORPHA:94068
Lethal Faciocardiomelic Dysplasia
Hypoplasia of the ulna, Hypoplasia of the radius, Fibular hypoplasia, Bilateral single transverse... ORPHA:1972
Arthrogryposis Multiplex Congenita 4, Neurogenic, With Agenesis Of The Corpus Callosum
Rocker bottom foot, Thin vermilion border, Death in childhood, Narrow mouth, Death in infancy, Mi... OMIM:618766
Dermatosparaxis Ehlers-Danlos Syndrome
Rickets, Osteopenia, Retrognathia, Joint dislocation, Gastroesophageal reflux, Hiatus hernia, Ost... ORPHA:1901
Intellectual Developmental Disorder With Paroxysmal Dyskinesia Or Seizures
Falls, Chorea, Inappropriate laughter, Ataxia, Motor stereotypy, Bruxism, Aggressive behavior OMIM:619150
Otospondylomegaepiphyseal Dysplasia, Autosomal Dominant
Enlarged epiphyses, Epiphyseal dysplasia, Cleft palate, Pierre-Robin sequence, Malar flattening, ... OMIM:184840
Cardiomyopathy, Familial Hypertrophic, 6
Congestive heart failure, Wolff-Parkinson-White syndrome, Left bundle branch block, Atrial fibril... OMIM:600858
Distal Limb Deficiencies-Micrognathia Syndrome
Tarsal synostosis, Abnormality of the wrist, Abnormal metacarpal morphology, Aplasia/Hypoplasia o... ORPHA:1307
Brachydactyly-Elbow Wrist Dysplasia Syndrome
Clinodactyly of the 5th finger, Synostosis of carpal bones, Abnormality of the humerus, Abnormal ... ORPHA:1275
Spondyloepiphyseal Dysplasia-Craniosynostosis-Cleft Palate-Cataracts-Intellectual Disability Syndrome
Abnormality of cranial sutures, Abnormal bone ossification, Flat acetabular roof, Wide proximal f... ORPHA:163649
Neurodevelopmental Disorder With Spasticity, Hypomyelinating Leukodystrophy, And Brain Abnormalities
Femoral retroversion, Unilateral wrist flexion contracture, Micrognathia, Knee flexion contractur... OMIM:616531
Autosomal Recessive Stickler Syndrome
Genu valgum, Platyspondyly, Epiphyseal dysplasia, Micrognathia, Cleft palate, Malar flattening, I... ORPHA:250984
Morbid Obesity And Spermatogenic Failure
Congestive heart failure, Azoospermia, Hypertension, Oligozoospermia, Myocardial infarction OMIM:615703
Hypochondroplasia
Abnormal metaphysis morphology, Abnormal femur morphology, Abnormal form of the vertebral bodies,... ORPHA:429
Aminopterin Syndrome Sine Aminopterin
Brachycephaly, Macrocephaly, Inguinal hernia, Decreased body weight, Microcephaly, Frontal bossin... OMIM:600325
Fraxe Intellectual Disability
Agitation, Hyperactivity, Prominent ear helix, Recurrent hand flapping, Compulsive behaviors, Imp... ORPHA:100973
Chromosome 3Pter-P25 Deletion Syndrome
Brachycephaly, Retrognathia, Small for gestational age, Low hanging columella, Anteverted nares, ... OMIM:613792
Polyneuropathy-Intellectual Disability-Acromicria-Premature Menopause Syndrome
Abnormal pelvic girdle bone morphology, Furrowed tongue, Micromelia, Camptodactyly of finger, Bra... ORPHA:2928
Multiple Osteochondromas
Intestinal obstruction, Abnormal femur morphology, Limitation of knee mobility, Abnormal lower li... ORPHA:321
Pierpont Syndrome
Brachycephaly, Abnormal subcutaneous fat tissue distribution, Wide nasal ridge, Malar flattening,... ORPHA:487825
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly
Narrow greater sciatic notch, Short ribs, Flat acetabular roof, Short long bone, Hypoplastic pelv... OMIM:616300
Oculofaciocardiodental Syndrome
Solitary median maxillary central incisor, Flexion contracture of the 2nd toe, Flexion contractur... ORPHA:2712
Fibrous Dysplasia Of Bone
Abnormal femur morphology, Pathologic fracture, Osteolysis, Abnormal clavicle morphology, Rickets... ORPHA:249
Isolated Pierre Robin Syndrome
Micrognathia, Cleft palate, Glossoptosis ORPHA:718
Pseudodiastrophic Dysplasia
Brachycephaly, Anteverted nares, Camptodactyly, Frontal bossing, Micrognathia, Failure to thrive,... OMIM:264180
Cardiomyopathy, Dilated, 1A
Congestive heart failure, Atrial flutter, Atrial fibrillation, Sinus bradycardia, Ventricular arr... OMIM:115200
Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 1
Brachycephaly, Short nose, Slender nose, Microcephaly, Micrognathia, Joint contracture OMIM:615419
Gómez-López-Hernández Syndrome
Brachycephaly, Anteverted nares, Turricephaly ORPHA:1532
Acrocapitofemoral Dysplasia
Narrow chest, Short thorax, Pectus carinatum, Scoliosis, Hyperlordosis, Pectus excavatum, Flared ... ORPHA:63446
Familial Isolated Dilated Cardiomyopathy
Congestive heart failure, Left ventricular systolic dysfunction, Dilated cardiomyopathy, Arrhythmia ORPHA:154
Ring Chromosome 8 Syndrome
Frontal bossing, Short nose, Anteverted nares ORPHA:1450
Spondylometaphyseal Dysplasia, Algerian Type
Short tubular bones of the hand, Kyphoscoliosis, Carpal bone hypoplasia, Genu valgum, Flared femo... OMIM:184253
Jeune Syndrome
Abnormal metaphysis morphology, Abnormal clavicle morphology, Narrow chest, Short thorax, Abnorma... ORPHA:474
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly
Femoral bowing, Short ribs, Short long bone, Absent tibia, Intestinal malrotation, Thoracic hypop... OMIM:613091
Intellectual Developmental Disorder, X-Linked 72
Hyperactivity, Motor stereotypy OMIM:300271
Coffin-Siris Syndrome 1
Duodenal ulcer, Retrognathia, Sandal gap, Dislocated radial head, Prominent fingertip pads, Micro... OMIM:135900
Mesomelic Dysplasia, Nievergelt Type
Bilateral single transverse palmar creases, Abnormal fibula morphology, Tarsal synostosis, Abnorm... ORPHA:2633
Clark-Baraitser syndrome
Genu valgum, Thick lower lip vermilion, Genu recurvatum, Scoliosis, Prominent median palatal raph... OMIM:300602
Short Stature, Brussels Type
Microretrognathia, Calcification of cartilage, Narrow chest, Delayed epiphyseal ossification ORPHA:2867
Isolated Osteopoikilosis
Sclerotic foci within carpal bones, Abnormal femur morphology, Tarsal sclerosis, Abnormal long bo... ORPHA:166119
Cleft Palate-Short Stature-Vertebral Anomalies Syndrome
Short nose, Micrognathia, Anteverted nares ORPHA:2015
Short-Rib Thoracic Dysplasia 15 With Polydactyly
Supernumerary tooth, Aplasia of the epiglottis, Narrow chest, Respiratory distress, Short clavicl... OMIM:617088
Chondroectodermal Dysplasia With Night Blindness
Osteopenia, Equinovarus deformity, Talipes calcaneovarus, Fractures of the long bones, Wide humer... ORPHA:319195
Robinow Syndrome, Autosomal Recessive 2
Sandal gap, Triangular mouth, Cleft soft palate, Gingival overgrowth, Prominent fingertip pads, A... OMIM:618529
Immunodeficiency 43
Hypoplasia of the ulna, Radial bowing OMIM:241600
Simpson-Golabi-Behmel Syndrome, Type 1
Narrow greater sciatic notch, Short greater sciatic notch, Meckel diverticulum, Pectus carinatum,... OMIM:312870
Orofaciodigital Syndrome Xix
Narrow palate, Retrognathia, Cleft soft palate, Midline notching of lower lip, Postaxial hand pol... OMIM:620107
Hemochromatosis, Type 2A
Congestive heart failure, Azoospermia, Cardiomyopathy, Arrhythmia, Dilated cardiomyopathy, Hypogo... OMIM:602390
Thrombocytopenia-Absent Radius Syndrome
Fibular aplasia, Clinodactyly of the 5th finger, Fused cervical vertebrae, Tibial torsion, Finger... ORPHA:3320
Ring Chromosome 4 Syndrome
Abnormality of the upper limb, Abnormal morphology of ulna, Split hand, Aplasia/Hypoplasia of the... ORPHA:1447
Orofaciodigital Syndrome Ii
Pectus excavatum, Syndactyly, Metaphyseal irregularity, Accessory oral frenulum, Tongue nodules, ... OMIM:252100
Chromosome 1P35 Deletion Syndrome
Clinodactyly of the 5th finger, Poor suck, High palate, Narrow mouth, Increased femoral anteversi... OMIM:617930
Rnf13-Related Severe Early-Onset Epileptic Encephalopathy
Respiratory distress, Hypodontia, Metacarpophalangeal joint contracture, Scoliosis, Wrist hypermo... ORPHA:544503
Congenital Myopathy 22B, Severe Fetal
Retrognathia, Tube feeding, Dental crowding, Pectus excavatum, Thoracic hypoplasia, Triangular mo... OMIM:620369
Spondylometaepiphyseal Dysplasia, Short Limb-Hand Type
Pectus carinatum, Triangular shaped distal phalanges of the hand, Short ribs, Short long bone, Sh... OMIM:271665
Schwartz-Jampel Syndrome, Type 1
Kyphoscoliosis, Flexion contracture of toe, Pectus carinatum, Wrist flexion contracture, Anterior... OMIM:255800
Rhizomelic Dysplasia, Patterson-Lowry Type
Rhizomelia, Short metatarsal, Deformed humeral heads, Short metacarpal, Coxa vara, Short humerus,... OMIM:601438
Hypophosphatemic Bone Disease
Rickets, Osteomalacia, Bowing of the legs OMIM:146350
Atrial Standstill
Sick sinus syndrome, Congestive heart failure, Ischemic stroke, Reduced left ventricular ejection... ORPHA:1344
Pierpont Syndrome
Brachycephaly, Short nose, Wide nose, Decreased body weight, Microcephaly, Failure to thrive, Bro... OMIM:602342
Congenital Hypothyroidism Due To Maternal Intake Of Antithyroid Drugs
Abdominal distention, Delayed epiphyseal ossification, Absent ossification of capital femoral epi... ORPHA:226313
Dyssegmental Dysplasia, Rolland-Desbuquois Type
Narrow greater sciatic notch, Equinovarus deformity, Narrow chest, Short ribs, Short long bone, B... OMIM:224400
Atrial Septal Defect, Sinus Venosus Type
Congestive heart failure, Atrial flutter, Atrial fibrillation, Supraventricular arrhythmia, Supra... ORPHA:99105
Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 2
Brachycephaly, Plagiocephaly, Anteverted nares, Cachexia, Microcephaly, Frontal bossing, Hip cont... OMIM:616801
Congenital Syphilis
Periostitis, Osteochondrosis, Diarrhea, Tibial bowing, High palate, Notched primary central incis... ORPHA:499009
Fgfr2-Related Bent Bone Dysplasia
Osteopenia, Metopic depression, Bell-shaped thorax, Short clavicles, Gingival overgrowth, Abnorma... ORPHA:313855
Congenital Disorder Of Glycosylation, Type Iiy
Brachycephaly, Microcephaly OMIM:620200
Microbrachycephaly-Ptosis-Cleft Lip Syndrome
Brachycephaly, Abnormal zygomatic bone morphology, Narrow nasal bridge, Mandibular prognathia, Mi... ORPHA:2511
Atransferrinemia
Congestive heart failure OMIM:209300
Dyssegmental Dysplasia, Silverman-Handmaker Type
Narrow chest, Clubbing of fingers, Hypoplastic pubic bone, Pterygium, Miscarriage, Short long bon... ORPHA:1865
Neurodevelopmental Disorder With Nonspecific Brain Abnormalities And With Or Without Seizures
Attention deficit hyperactivity disorder, Ataxia, Motor stereotypy OMIM:618709
Arthrogryposis, Distal, Type 5D
Hypermobility of distal interphalangeal joints, Limited elbow movement, Talipes equinovarus, Scol... OMIM:615065
Chondrodysplasia Punctata, Tibia-Metacarpal Type
Short 4th metacarpal, Epiphyseal stippling, Short 2nd metacarpal, Short long bone, Micromelia, Sh... OMIM:118651
Orofaciodigital Syndrome Iv
Short finger, Hamartoma of tongue, Tongue nodules, Pectus excavatum, High palate, Foot polydactyl... OMIM:258860
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Brain Atrophy
Broad-based gait, Recurrent hand flapping, Gait ataxia, Dysphagia, Motor stereotypy OMIM:617862
Non-Syndromic Bicoronal Craniosynostosis
Brachycephaly ORPHA:35099
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 2
Broad distal phalanx of finger, Streaky metaphyseal sclerosis, Dislocated radial head, Slender di... OMIM:603546
Orofaciodigital Syndrome Type 5
Supernumerary tooth, High, narrow palate, Aganglionic megacolon, Absent cupid's bow, Agenesis of ... ORPHA:2919
Hypophosphatasia, Infantile
Anorexia, Stillbirth, Unossified vertebral bodies, Metaphyseal cupping, Short ribs, Abnormality o... OMIM:241500
Sporadic Fetal Brain Disruption Sequence
Microcephaly, Plagiocephaly, Prominent occiput ORPHA:1665
Mesomelia-Synostoses Syndrome
Abnormal femur morphology, Joint stiffness, Abnormal oral frenulum morphology, Mesomelia, Long ph... ORPHA:2496
Holzgreve Syndrome
Abnormal metacarpal morphology, Abnormally ossified vertebrae, Abnormal rib morphology, Joint sti... ORPHA:2167
Cardiomyopathy, Dilated, 1D
Congestive heart failure, Prolonged QT interval, Reduced left ventricular ejection fraction, Inco... OMIM:601494
Qazi-Markouizos Syndrome
Abdominal distention, High, narrow palate, Delayed ossification of carpal bones, Pectus excavatum... ORPHA:3010
Desbuquois Dysplasia 1
Sandal gap, Hyperlordosis, Flat acetabular roof, Kyphosis, Broad femoral neck, Bifid distal phala... OMIM:251450
Craniometaphyseal Dysplasia, Autosomal Dominant
Cranial hyperostosis, Calvarial osteosclerosis, Flared metaphysis, Tooth malposition, Dental crow... OMIM:123000
Tetrasomy 9P
Bilateral single transverse palmar creases, Abnormal number of permanent teeth, Dental crowding, ... ORPHA:3310
Sheldon-Hall Syndrome
Bilateral single transverse palmar creases, Tarsal synostosis, Abnormal hip bone morphology, Scol... ORPHA:1147
Summitt Syndrome
Plagiocephaly, Macrocephaly, Wide nose, Depressed nasal ridge, Camptodactyly of finger, Obesity, ... ORPHA:3210
Blomstrand Lethal Chondrodysplasia
Broad clavicles, Short ribs, Short metacarpal, Mesomelia, Long philtrum, Abnormal epiphysis morph... ORPHA:50945
Otopalatodigital Syndrome, Type I
Broad distal phalanx of finger, Sandal gap, Dislocated radial head, Femoral bowing, Pectus excava... OMIM:311300
Spinal muscular atrophy, type I, with congenital bone fractures
Rocker bottom foot, Osteopenia, Respiratory distress, High palate, Pectus excavatum, Congenital h... OMIM:271225
Radio-Renal Syndrome
Hypoplasia of the radius, High, narrow palate, Retrognathia, Abnormal form of the vertebral bodie... ORPHA:3015
Metaphyseal Anadysplasia 2
Micromelia, Metaphyseal widening, Short femoral neck, Metaphyseal irregularity, Bowing of the leg... OMIM:613073
Pycnodysostosis
Narrow palate, Absent frontal sinuses, Increased bone mineral density, Narrow iliac wing, Osteoly... OMIM:265800
Intellectual Developmental Disorder, Autosomal Recessive 68
Microcephaly, Wide nasal bridge, Small for gestational age, Hypoplasia of the maxilla OMIM:618302
Thin Ribs-Tubular Bones-Dysmorphism Syndrome
Abnormal palate morphology, Abnormal pelvic girdle bone morphology, Abnormal rib morphology, Slen... ORPHA:1506
Cardiomyopathy-Cataract-Hip Spine Disease Syndrome
Congestive heart failure, Hypertension, Hypertrophic cardiomyopathy, Arrhythmia, Pulmonary embolism ORPHA:1345
Fibular Aplasia-Ectrodactyly Syndrome
Abnormal morphology of ulna, Split hand, Aplasia/Hypoplasia of the fibula ORPHA:1118
Weaver Syndrome
Abnormal metaphysis morphology, Long philtrum, Retrognathia, Pes cavus, Sandal gap, Finger syndac... ORPHA:3447
Xq28 (MECP2) duplication
Brachycephaly, Microcephaly, Failure to thrive, Malar flattening, Depressed nasal bridge DECIPHER:45
Intellectual Developmental Disorder, X-Linked, Syndromic, Snijders Blok Type
Brachycephaly, Anteverted nares, Decreased body weight, Microcephaly, Bulbous nose, Wide nasal br... OMIM:300958
Cardiomyopathy, Familial Hypertrophic, 11
Congestive heart failure, Atrial flutter, Left anterior fascicular block, Left bundle branch bloc... OMIM:612098
Ear-Patella-Short Stature Syndrome
Retrognathia, Bifid uvula, Abnormal epiphysis morphology, Craniosynostosis, Joint hypermobility, ... ORPHA:2554
Congenital Heart Defects And Ectodermal Dysplasia
Brachycephaly, Anteverted nares, Microcephaly, Frontal bossing, Prominent nasal bridge, Depressed... OMIM:617364
Diaphragmatic Defect-Limb Deficiency-Skull Defect Syndrome
Abnormal femur morphology, Clinodactyly of the 5th finger, Finger syndactyly, Abnormality of the ... ORPHA:2141
Lujan-Fryns Syndrome
Brachycephaly, Macrocephaly, Hypoplasia of the maxilla, Camptodactyly of finger, Micrognathia, Pr... ORPHA:776
Brachydactyly-Preaxial Hallux Varus Syndrome
Abnormal palate morphology, Radial club hand, Short metatarsal, Short metacarpal, Broad thumb, Mi... ORPHA:1278
Congenital Disorder Of Glycosylation, Type Iig
Kyphoscoliosis, Short long bone, Glossoptosis, Broad femoral neck, Long philtrum, Butterfly verte... OMIM:611209
Congenital Disorder Of Glycosylation, Type Ie
Ankle flexion contracture, High, narrow palate, Respiratory distress, Upper limb undergrowth, Cam... OMIM:608799
Greenberg Dysplasia
Retrognathia, Short ribs, Short long bone, Short metacarpal, Decreased skull ossification, Multip... OMIM:215140
Spondyloepimetaphyseal Dysplasia, X-Linked
Cone-shap