Not currently registered for phenotyping at IMPC

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

Gene Summary

BMP-binding endothelial regulator
CV-2,  Cv2,  3110056H04Rik,  crossveinless-2,  Crim3

IMPC Data Collections

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

IMPC Phenotype Summary

Not Significant
Not tested


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 Bmper 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 associated to Bmper by orthology or direct annotation.

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

Disease Similarity of
Matching phenotypes Source
Granulomas, Congenital Cerebral
Neonatal death OMIM:306300
Genitourinary Tract Anomalies
Neonatal death OMIM:305690
Fibrochondrogenesis 1
Fibular hypoplasia, Posterior vertebral hypoplasia, Clinodactyly of the 5th finger, Widely patent... OMIM:228520
Thanatophoric Dysplasia, Type Ii
Brachydactyly, Metaphyseal irregularity, Short greater sciatic notch, Short ribs, Neonatal death,... OMIM:187601
Thanatophoric Dysplasia, Type I
Bowing of the long bones, Hydrocephalus, Metaphyseal irregularity, Short greater sciatic notch, S... OMIM:187600
Schneckenbecken Dysplasia
Brachydactyly, Advanced ossification of carpal bones, Metaphyseal irregularity, Anterior rib cupp... OMIM:269250
Lethal Kniest-Like Dysplasia
Brachydactyly, Coronal cleft vertebrae, Anterior rib cupping, Short neck, Hypoplastic vertebral b... ORPHA:2347
Diastrophic Dysplasia
Irregular epiphyses, Flattened epiphysis, Cervical kyphosis, Hitchhiker thumb, Hearing impairment... OMIM:222600
Ulnar Hemimelia
Carpal synostosis, Curved toe phalanx, Radial club hand, Short forearm, Scoliosis, Aplasia of met... ORPHA:93320
Fibrodysplasia Ossificans Progressiva
Small cervical vertebral bodies, Abnormality of the first metatarsal bone, Conductive hearing imp... OMIM:135100
Metatropic Dysplasia
Cupped ribs, Flared humeral metaphysis, Abnormal metaphyseal vascular invasion, Flared femoral me... OMIM:156530
Dyggve-Melchior-Clausen Disease
Genu varum, Clinodactyly of the 5th finger, Rhizomelic arm shortening, Hypoplastic iliac wing, Sc... OMIM:223800
Smith-Mccort Dysplasia 1
Irregular epiphyses, Genu varum, Metaphyseal irregularity, Atlantoaxial instability, Kyphosis, Do... OMIM:607326
Spondylometaphyseal Dysplasia, Corner Fracture Type
Genu varum, Metaphyseal irregularity, Ovoid vertebral bodies, Short femoral neck, Hypoplasia of t... OMIM:184255
Spondyloepimetaphyseal Dysplasia, Shohat Type
Genu varum, Metaphyseal irregularity, Vertebral hypoplasia, Short neck, Short femoral neck, Short... OMIM:602557
Spinal Dysplasia, Anhalt Type
Narrow anterio-posterior vertebral body diameter, Thoracolumbar scoliosis, Osteoarthritis of the ... OMIM:601344
Cousin Syndrome
Clinodactyly of the 5th finger, Hydronephrosis, Micrognathia, Hypoplastic iliac wing, Hypoplastic... OMIM:260660
Brachydactyly, Plagiocephaly, Short neck, Abnormal form of the vertebral bodies, Short ribs, Narr... ORPHA:2021
Polydactyly, Postaxial, With Dental And Vertebral Anomalies
Brachydactyly, Toe syndactyly, Broad toe, Pectus carinatum, 2-3 toe syndactyly, Low-set ears, Hyp... OMIM:263540
Axial Spondylometaphyseal Dysplasia
Cupped ribs, Acromesomelia, Abnormal ilium morphology, Delayed ossification of carpal bones, Apla... ORPHA:168549
Platyspondylic Dysplasia, Torrance Type
Bowing of the long bones, Genu varum, Abnormal carpal morphology, Short palm, Short thorax, Hypop... ORPHA:85166
Brachytelephalangic Chondrodysplasia Punctata
Abnormality of the vertebral column, Cervical kyphosis, Vertebral hypoplasia, Coronal cleft verte... ORPHA:79345
Metatropic Dysplasia
Kyphosis, Abnormal form of the vertebral bodies, Clinodactyly of the 5th finger, Narrow chest, Ab... ORPHA:2635
Narrow iliac wing, Absent paranasal sinuses, Hypoplastic vertebral bodies, Broad femoral neck, Mi... OMIM:224300
Spondyloepiphyseal Dysplasia With Atlantoaxial Instability
Atlantoaxial instability, Os odontoideum, Spondylolysis, Respiratory failure, Lumbar hyperlordosi... OMIM:600561
Brachydactyly, Hypoplastic ischia, Hypoplastic pubic bone, Hypoplastic vertebral bodies, Abnormal... ORPHA:2746
Spondyloepimetaphyseal Dysplasia, Shohat Type
Genu varum, Narrow vertebral interpedicular distance, Scoliosis, Tracheal stenosis, Metaphyseal w... ORPHA:93352
Kniest-Like Dysplasia, Lethal
Brachydactyly, Coronal cleft vertebrae, Metaphyseal irregularity, Short neck, Hypoplastic vertebr... OMIM:245190
Cleidocranial Dysplasia
Abnormal thumb morphology, Clinodactyly of the 5th finger, Tapered finger, Micrognathia, Abnormal... ORPHA:1452
Spondylometaphyseal Dysplasia, Type A4
Brachydactyly, Metaphyseal irregularity, Enlargement of the costochondral junction, Coxa valga, M... OMIM:609052
Short Rib-Polydactyly Syndrome
Horizontal ribs, Abnormal ilium morphology, Abnormal pelvis bone morphology, Metaphyseal spurs, C... ORPHA:1505
Greenberg Dysplasia
Hypoplastic vertebral bodies, 11 pairs of ribs, Micrognathia, Micromelia, Absent distal phalanges... OMIM:215140
Acro-Renal-Mandibular Syndrome
Micrognathia, Scoliosis, Hemivertebrae, Hip dislocation, Short neck, Intrauterine growth retardat... ORPHA:958
Atelosteogenesis, Type I
Coronal cleft vertebrae, Vertebral hypoplasia, 11 pairs of ribs, Thoracic platyspondyly, Microgna... OMIM:108720
Achondrogenesis, Type Ia
Hypoplastic ischia, Short neck, Short ribs, Hypoplasia of the radius, Hypoplastic scapulae, Micro... OMIM:200600
Atelosteogenesis, Type Ii
Coronal cleft vertebrae, Cervical kyphosis, Short greater sciatic notch, Sandal gap, Micrognathia... OMIM:256050
Pelvis-Shoulder Dysplasia
Hypoplastic acetabulae, Clinodactyly of the 5th finger, Congenital hip dislocation, Hypoplastic s... OMIM:169550
Hypoplastic ischia, Anterior rib cupping, Short neck, Short palm, Hypoplastic vertebral bodies, P... OMIM:258480
Pelviscapular Dysplasia
Brachydactyly, Abnormality of the joint spaces of the elbow, Short neck, Congenital hip dislocati... ORPHA:93333
Cleidocranial Dysplasia
Absent paranasal sinuses, Micrognathia, Short middle phalanx of the 2nd finger, Hypoplastic iliac... OMIM:119600
Holoprosencephaly, Semilobar, With Craniosynostosis
Semilobar holoprosencephaly, Short distal phalanx of finger, Coxa valga, Hypoplastic vertebral bo... OMIM:601370
Patterson Pseudoleprechaunism Syndrome
Ovoid thoracolumbar vertebrae, Small cervical vertebral bodies, Short long bone, Irregular acetab... OMIM:169170
Central Retinal Vein Occlusion
Cystoid macular edema, Retinal neovascularization, Papilledema, Intraretinal hemorrhage, Pigmenta... ORPHA:411527
Diastrophic Dysplasia
Micrognathia, Abnormal rib morphology, Micromelia, Scoliosis, Hip dysplasia, Large earlobe, Bowin... ORPHA:628
Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly
Brachydactyly, Bowing of the long bones, Renal cyst, Short long bone, Dolichocephaly, Short ribs,... OMIM:614091
Exudative Vitreoretinopathy 2, X-Linked
Exudative vitreoretinopathy, Subretinal exudate, Intraretinal exudate, Retinal hole, Retinal deta... OMIM:305390
Spondylometaphyseal Dysplasia, X-Linked
Kyphosis, Respiratory failure, Thoracolumbar scoliosis, Tapered finger, Platyspondyly, Short fing... OMIM:313420
Acrorenal-Mandibular Syndrome
Missing ribs, Foot polydactyly, Micrognathia, Polycystic kidney dysplasia, Narrow chest, Hemivert... OMIM:200980
Campomelic Dysplasia
Narrow iliac wing, Absent sternal ossification, Fibular hypoplasia, Poorly ossified cervical vert... OMIM:114290
Mucolipidosis Ii Alpha/Beta
Abnormal rib cage morphology, Metaphyseal widening, Hip dislocation, Ovoid vertebral bodies, Thor... OMIM:252500
Familial Exudative Vitreoretinopathy
Vitreoretinopathy, Peripheral retinal avascularization, Macular telangiectasia, Subretinal fluid,... ORPHA:891
Gurrieri Syndrome
Decreased anterioposterior diameter of lumbar vertebral bodies, Hypoplastic acetabulae, Hypoplast... OMIM:601187
Richieri Costa-Da Silva Syndrome
Decreased anterioposterior diameter of lumbar vertebral bodies, Vertebral wedging, Beaking of ver... ORPHA:3101
Congenital Hemidysplasia With Ichthyosiform Erythroderma And Limb Defects
Renal agenesis, Vertebral hypoplasia, Short ribs, Epiphyseal stippling, Mild intrauterine growth ... OMIM:308050
Eales Disease
Subhyaloid hemorrhage, Vitritis, Iris neovascularization, Epistaxis, Retinal vasculitis, Retinal ... ORPHA:40923
Melnick-Needles Syndrome
Hydronephrosis, Micrognathia, Anterior concavity of thoracic vertebrae, Narrow chest, Genu valgum... OMIM:309350
Microcephalic Osteodysplastic Primordial Dwarfism, Type Ii
Distal symphalangism, Clinodactyly of the 5th finger, Cone-shaped epiphysis, Hypoplastic iliac wi... OMIM:210720
Osteoglophonic Dysplasia
Chordee, Pseudoarthrosis, Cloverleaf skull, Bowing of the long bones, Short neck, Short phalanx o... OMIM:166250
Postaxial Polydactyly-Dental And Vertebral Anomalies Syndrome
Brachydactyly, Kyphosis, Abnormal form of the vertebral bodies, Hypoplastic vertebral bodies, Cli... ORPHA:2916
Pelvis-Shoulder Dysplasia
Aplasia/Hypoplasia of the clavicles, Hydronephrosis, Micrognathia, Spina bifida, Aplasia/Hypoplas... ORPHA:2839
Spondyloepiphyseal Dysplasia Tarda
Abnormality of the tibial plateaux, Scoliosis, Decreased cervical spine mobility, Arthralgia of t... ORPHA:93284
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency
Unilateral renal agenesis, Clinodactyly, Abnormal rib morphology, Scoliosis, Narrow chest, Brachy... ORPHA:95699
Vertebral Hypoplasia With Lumbar Kyphosis
Vertebral hypoplasia, Lumbar kyphosis OMIM:192900
Cervical Vertebral Dysplasia
Anterior atlanto-occipital dislocation, Cervical vertebral dysplasia, Cervical vertebral facet hy... OMIM:118005
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2B, Prenatal Onset, Autosomal Dominant
Kyphosis, Overlapping fingers, Respiratory failure, Congenital hip dislocation, Micrognathia, Sco... OMIM:618291
Congenital Arthrogryposis With Anterior Horn Cell Disease
Short neck, Kyphosis, Low-set ears, Rocker bottom foot, Respiratory failure, Micrognathia, Scolio... OMIM:611890
Campomelic Dysplasia
Bowing of the long bones, Hypoplastic inferior ilia, Short neck, Kyphosis, Fibular hypoplasia, Po... ORPHA:140
Vitreoretinopathy, Neovascular Inflammatory
Large hyperpigmented retinal spots, Vitreoretinopathy, Retinal detachment, Posterior retinal neov... OMIM:193235
Brachyolmia Type 1, Hobaek Type
Short neck, Kyphosis, Short femoral neck, Intervertebral space narrowing, Back pain, Sclerotic fo... OMIM:271530
Epiphyseal Dysplasia, Multiple, With Severe Proximal Femoral Dysplasia
Irregularity of vertebral bodies, Short femoral neck, Flared femoral metaphysis, Broad femoral ne... OMIM:609324
Short-Rib Thoracic Dysplasia 12
Horizontal ribs, Cystic renal dysplasia, Short toe, Narrow chest, Brachydactyly, Bowing of the le... OMIM:269860
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy
Abnormal 5th metacarpal morphology, Rhizomelic arm shortening, Cone-shaped epiphysis, Tachypnea, ... ORPHA:397715
Spondylometaphyseal Dysplasia, 'Corner Fracture' Type
Genu varum, Clinodactyly, Vertebral hypoplasia, Small earlobe, Hypoplastic iliac wing, Scoliosis,... ORPHA:93315
Radioulnar Synostosis-Microcephaly-Scoliosis Syndrome
Finger syndactyly, Clinodactyly of the 5th finger, Abnormal rib morphology, Radioulnar synostosis... ORPHA:3268
Exudative Vitreoretinopathy 1
Exudative vitreoretinopathy, Peripheral retinal avascularization, Retinal exudate, Retinal detach... OMIM:133780
Odontoid Hypoplasia
Cervical instability, Hypoplasia of the odontoid process, Atlantoaxial instability, Dystopic os o... OMIM:613628
Genu varum, Cone-shaped epiphysis, Scoliosis, Abnormality of femoral epiphysis, Irregular carpal ... ORPHA:750
Developmental Malformations-Deafness-Dystonia Syndrome
Kyphosis, Hypoplastic scapulae, Micromelia, Scoliosis, Death in early adulthood ORPHA:79107
Caudal Regression Syndrome
Missing ribs, Abnormality of pelvic girdle bone morphology, Arrhinencephaly, Hypoplastic vertebra... ORPHA:3027
Hypoplastic vertebral bodies, Platyspondyly, Abnormality of the metaphysis, Irregular vertebral e... ORPHA:1782
Metaphyseal Chondrodysplasia, Schmid Type
Genu varum, Proximal femoral metaphyseal irregularity, Hip dysplasia, Bowing of the legs, Widened... ORPHA:174
Autosomal Dominant Myopia-Midfacial Retrusion-Sensorineural Hearing Loss-Rhizomelic Dysplasia Syndrome
Brachydactyly, Rhizomelia, Hypoplastic scapulae, Micrognathia, Midface retrusion, Micromelia, Fro... ORPHA:440354
Infantile Liver Failure Syndrome 3
Abnormality of the epiphysis of the femoral head, Hypoplastic vertebral bodies, Beaking of verteb... OMIM:618641
Enlarged joints, Multiple enchondromatosis, Abnormality of ulnar metaphysis, Abnormality of fibul... ORPHA:85198
Vacterl Association With Hydrocephalus
Absent thumb, Abnormality of the vertebral column, Radial club hand, Respiratory failure, Abnorma... OMIM:276950
Retinal Venous Beading
Saccular conjunctival dilatations, Retinal neovascularization, Abnormal distribution of retinal a... OMIM:180080
Brachydactyly, Prominent occiput, Wormian bones, Abnormality of pelvic girdle bone morphology, Sp... OMIM:265800
Crane-Heise Syndrome
Toe syndactyly, Finger syndactyly, Intrauterine growth retardation, Aplastic clavicle, Hypoplasti... ORPHA:1512
Spondyloepiphyseal Dysplasia Tarda, Autosomal Recessive, Leroy-Spranger Type
Flat capital femoral epiphysis, Genu varum, Thoracic kyphosis, Intervertebral space narrowing, Br... OMIM:609223
Gm1 Gangliosidosis Type 1
Spatulate ribs, Low-set ears, Hypoplastic vertebral bodies, Flared iliac wing, Platyspondyly, Fla... ORPHA:79255
Brachydactyly, Type B1
Short long bone, Hypoplastic sacrum, Aplasia/Hypoplasia of the distal phalanges of the hand, Join... OMIM:113000
Imperforate Oropharynx-Costovertebral Anomalies Syndrome
Missing ribs, Abnormal form of the vertebral bodies, Low-set ears, Clinodactyly of the 5th finger... ORPHA:2759
Schneckenbecken Dysplasia
Short neck, Advanced tarsal ossification, Hypoplastic vertebral bodies, Fibular hypoplasia, Abnor... ORPHA:3144
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14
Abnormal distal phalanx morphology of finger, Metaphyseal spurs, Micrognathia, Abnormality of the... ORPHA:96334
Otopalatodigital Syndrome, Type Ii
Short thumb, Micrognathia, Bulbous tips of toes, Narrow chest, Irregular metacarpals, Short ribs,... OMIM:304120
Sacral Agenesis With Vertebral Anomalies
Absence of the sacrum, Abnormal vertebral morphology OMIM:615709
Dystonia, Juvenile-Onset
Kyphoscoliosis, Hypoplastic scapulae OMIM:607371
Dextrocardia With Unusual Facies And Microphthalmia
Supernumerary ribs, Anophthalmia, Micrognathia, Microphthalmia, Vertebral fusion, Macrotia, Verte... OMIM:221950
Pulmonary Hypoplasia, Primary
Neonatal death OMIM:265430
Arthrogryposis, Distal, With Mental Retardation And Characteristic Facies
Respiratory insufficiency, Narrow chest, Respiratory failure OMIM:208081
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia
Low-set ears, Rhizomelia, 11 pairs of ribs, Thin ribs, Metaphyseal cupping of proximal phalanges,... OMIM:300863
Epiphyseal Dysplasia, Multiple, 7
Advanced ossification of carpal bones, Genu varum, Short femoral neck, Vertebral wedging, Platysp... OMIM:617719
Spondyloepiphyseal Dysplasia Tarda, Kohn Type
Abnormal ilium morphology, Bilateral coxa valga, Abnormal vertebral morphology, Platyspondyly, Ab... ORPHA:163665
Lethal Congenital Contracture Syndrome 3
Neonatal death OMIM:611369
Spondyloepimetaphyseal Dysplasia, Handigodu Type
Abnormality of the vertebral column, Hip osteoarthritis, Short femoral neck, Broad radial metaphy... ORPHA:99642
Short Stature, Auditory Canal Atresia, Mandibular Hypoplasia, And Skeletal Abnormalities
Scapulohumeral synostosis, Dislocated radial head, Rhizomelia, Hypoplastic scapulae, Micrognathia... OMIM:602471
Gm1-Gangliosidosis, Type I
Kyphosis, Short neck, Hypoplastic vertebral bodies, Beaking of vertebral bodies, Scoliosis, Death... OMIM:230500
Holoprosencephaly-Craniosynostosis Syndrome
Brachydactyly, Coxa valga, Hypoplastic vertebral bodies, Clinodactyly of the 5th finger, Short di... ORPHA:2163
Legg-Calvé-Perthes Disease
Joint dislocation, Cartilage destruction ORPHA:2380
Pyle Disease
Absent paranasal sinuses, Hypoplastic frontal sinuses, Delayed eruption of teeth, Abnormal thorax... OMIM:265900
Acrocapitofemoral Dysplasia
Small finger, Cupped ribs, Genu varum, Delayed ossification of carpal bones, Cone-shaped metacarp... OMIM:607778
Acrodysostosis 1 With Or Without Hormone Resistance
Brachydactyly, Neonatal epiphyseal stippling, Short palm, Hypoplastic vertebral bodies, Short met... OMIM:101800
Acrorenal Syndrome, Autosomal Recessive
Clinodactyly, Decreased numbers of nephrons, Radial deviation of finger, Renal hypoplasia, Renal ... OMIM:201310
Spondylometaphyseal Dysplasia, Schmidt Type
Abnormality of the vertebral column, Abnormal ilium morphology, Short long bone, Abnormality of t... ORPHA:93316
Spondyloepimetaphyseal Dysplasia, Isidor-Toutain Type
Genu varum, Platyspondyly, Irregular femoral epiphysis, Scoliosis, Upper-limb metaphyseal irregul... OMIM:618728
Lethal Osteosclerotic Bone Dysplasia
Short neck, Low-set ears, Respiratory failure, Micrognathia, Dyspnea, Mandibular aplasia, Posteri... ORPHA:1832
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome
Bowing of the long bones, Short neck, Low-set ears, Abnormality of epiphysis morphology, Rhizomel... ORPHA:93267
Myopathy, Areflexia, Respiratory Distress, And Dysphagia, Early-Onset
Restrictive ventilatory defect, Camptodactyly of finger, Respiratory failure, Pectus excavatum, S... OMIM:614399
Odontochondrodysplasia 1
Genu varum, Coronal cleft vertebrae, Delayed ossification of carpal bones, Polycystic kidney dysp... OMIM:184260
Spondyloepiphyseal Dysplasia-Craniosynostosis-Cleft Palate-Cataracts-Intellectual Disability Syndrome
Abnormality of cranial sutures, Micrognathia, Delayed patellar ossification, Narrow chest, Slende... ORPHA:163649
Spondyloepimetaphyseal Dysplasia, Borochowitz-Cormier-Daire Type
Irregular epiphyses, Narrow iliac wing, Bowing of the legs, Hypoplastic pubic bone, Ovoid vertebr... OMIM:608728
Kyphomelic Dysplasia
Bowing of the long bones, Missing ribs, Anterior rib cupping, Abnormal form of the vertebral bodi... ORPHA:1801
Renal Hypoplasia
Unilateral renal agenesis, Abnormal renal tubule morphology, Abnormality of the ureter, Decreased... ORPHA:93101
Heart Defects-Limb Shortening Syndrome
Kyphosis, Abnormal form of the vertebral bodies, Narrow chest, Abnormal rib morphology, Mesomelic... ORPHA:1354
Hyperekplexia 4
Respiratory failure, Talipes equinovarus, Adducted thumb, Umbilical hernia, Kyphoscoliosis, Campt... OMIM:618011
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type
Short palm, Low-set ears, Rhizomelia, Thin ribs, Metaphyseal chondrodysplasia, Platyspondyly, Mic... ORPHA:163966
Unilateral renal agenesis, Branchial cyst, Abnormality of medullary pyramid morphology, Decreased... ORPHA:2260
Multiple Epiphyseal Dysplasia Type 4
Cervical kyphosis, Acromicria, Abnormality of forearm bone, Broad femoral neck, Short thumb, Dela... ORPHA:93307
Craniofaciofrontodigital Syndrome
Short neck, Hypoplastic vertebral bodies, Low-set ears, Pectus excavatum, Hypoplastic pelvis, Bro... OMIM:114620
Acrocraniofacial Dysostosis
Abnormal hip bone morphology, Tapered finger, Micrognathia, Short 1st metacarpal, Genu valgum, Pa... ORPHA:949
Spondylocostal Dysostosis 4, Autosomal Recessive
Missing ribs, Block vertebrae, Restrictive ventilatory defect, Short thorax, Myelomeningocele, Ab... OMIM:613686
Abnormality of chorioretinal pigmentation, Retinal detachment, Retinal neovascularization, Retina... OMIM:193220
Progressive Pseudorheumatoid Arthropathy Of Childhood
Genu varum, Abnormal ilium morphology, Irregularity of vertebral bodies, Broad femoral neck, Enla... ORPHA:1159
Spondylometaphyseal Dysplasia, Kozlowski Type
Genu varum, Abnormality of the vertebral column, Abnormal ilium morphology, Coronal cleft vertebr... ORPHA:93314
Anauxetic Dysplasia 1
Brachydactyly, Delayed ossification of carpal bones, Short neck, Rhizomelia, Cervical subluxation... OMIM:607095
Multiple Epiphyseal Dysplasia, Beighton Type
Thoracic platyspondyly, Metaphyseal spurs, Low back pain, Arthralgia of the hip, Genu valgum, Hip... ORPHA:166011
Spondylometaphyseal Dysplasia, Kozlowski Type
Delayed ossification of carpal bones, Scoliosis, Abnormal rib cage morphology, Narrow greater sci... OMIM:184252
Cervical Vertebrae, Agenesis Of
Cervical vertebral agenesis OMIM:214290
Hernia, Anterior Diaphragmatic
Neonatal death OMIM:306950
Ollier Disease
Multiple enchondromatosis, Platyspondyly, Micromelia, Abnormal cartilage morphology, Abnormality ... ORPHA:296
Spondylomegaepiphyseal Dysplasia With Upper Limb Mesomelia, Punctate Calcifications, And Deafness
Brachydactyly, Broad toe, Cupped ribs, Hypoplastic pubic bone, Delayed ossification of carpal bon... OMIM:609616
Gombo Syndrome
Brachydactyly, Clinodactyly, Microphthalmia, Radial deviation of finger OMIM:233270
Autosomal Dominant Brachyolmia
Short thorax, Increased vertebral height, Platyspondyly, Abnormality of the metaphysis, Kyphoscol... ORPHA:93304
Spondyloepimetaphyseal Dysplasia, Di Rocco Type
Genu varum, Delayed ossification of carpal bones, Irregular acetabular roof, Platyspondyly, Metap... OMIM:617974
Atelosteogenesis Type Iii
Coronal cleft vertebrae, Vertebral hypoplasia, Absent humerus, Absent radius, Laryngotracheomalac... ORPHA:56305
Pierre Robin Sequence With Pectus Excavatum And Rib And Scapular Anomalies
Hypoplastic distal segments of scapulae, Abnormal rib morphology, Micrognathia, Pectus excavatum OMIM:602196
Epidermolysis Bullosa With Diaphragmatic Hernia
Neonatal death OMIM:226735
Dyssegmental Dysplasia With Glaucoma
Short long bone, Dolichocephaly, Elbow flexion contracture, Platyspondyly, Flared metaphysis, Mic... OMIM:601561
Spondylocostal Dysostosis 3, Autosomal Recessive
Slender finger, Kyphosis, Hypoplasia of the odontoid process, Supernumerary vertebral ossificatio... OMIM:609813
Endosteal Hyperostosis, Worth Type
Clavicular sclerosis, Abnormal form of the vertebral bodies, Sensorineural hearing impairment, Sc... ORPHA:2790
Mucopolysaccharidosis, Type Iiid
Thickened ribs, Ovoid thoracolumbar vertebrae, Recurrent otitis media, Thoracic scoliosis, Short ... OMIM:252940
Spondyloepimetaphyseal Dysplasia With Joint Laxity
Abnormality of epiphysis morphology, Radioulnar dislocation, Dislocated radial head, Beaking of v... ORPHA:93359
Spondylometaphyseal Dysplasia, Axial
Anterior rib cupping, Short femoral neck, Rhizomelia, Proximal femoral metaphyseal irregularity, ... OMIM:602271
Hao-Fountain Syndrome
Micropenis, Clinodactyly of the 5th finger, Large fontanelles, Delayed cranial suture closure, Ha... OMIM:616863
Atelosteogenesis Type Ii
Cervical kyphosis, Rhizomelic arm shortening, Sandal gap, Micrognathia, Micromelia, Ulnar deviati... ORPHA:56304
Spondyloepiphyseal Dysplasia, Stanescu Type
Coxa valga, Beaking of vertebral bodies, Platyspondyly, Kyphoscoliosis, Hypoplastic ilia OMIM:616583
Dyggve-Melchior-Clausen Disease
Abnormal hip bone morphology, Abnormality of the vertebral column, Abnormal pelvis bone morpholog... ORPHA:239
Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations
Pneumonia, Gastrointestinal hemorrhage, Abnormal retinal vascular morphology, Retinal cotton wool... ORPHA:247691
Thoracic Dysplasia-Hydrocephalus Syndrome
Communicating hydrocephalus, Short ribs, Thoracic dysplasia, Narrow chest, Respiratory failure, L... OMIM:273730
Spondyloepiphyseal Dysplasia Tarda With Mental Retardation
Anterior beaking of lumbar vertebrae, Coxa valga, Short greater sciatic notch, Platyspondyly OMIM:271620
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly
Brachydactyly, Horizontal ribs, Low-set ears, Short ribs, Lateral clavicle hook, Respiratory fail... OMIM:617895
Metaphyseal Chondrodysplasia, Schmid Type
Genu varum, Metaphyseal sclerosis, Broad femoral neck, Distal tibial bowing, Scoliosis, Metaphyse... OMIM:156500
Brachyolmia Type 1, Toledo Type
Broad tibial metaphyses, Precocious costochondral ossification, Short neck, Short femoral neck, I... OMIM:271630
Spondyloepimetaphyseal Dysplasia, Irapa Type
Enlargement of the costochondral junction, Hypoplastic sacrum, Short palm, Short metacarpal, Uppe... OMIM:271650
Kniest Dysplasia
Coronal cleft vertebrae, Enlarged epiphyses, Abnormal joint morphology, Delayed patellar ossifica... ORPHA:485
Krabbe Disease, Atypical, Due To Saposin A Deficiency
Death in infancy, Respiratory failure, Respiratory insufficiency, Central apnea OMIM:611722
Spondyloepiphyseal Dysplasia, Kimberley Type
Flat capital femoral epiphysis, Genu varum, Genu valgum, Platyspondyly OMIM:608361
Congenital Muscular Dystrophy, Ullrich Type
Slender finger, Increased laxity of fingers, Kyphosis, Short neck, Long toe, Respiratory failure,... ORPHA:75840
Melnick-Needles Syndrome
Hydronephrosis, Micrognathia, Abnormal rib morphology, Scoliosis, Narrow chest, Hip dislocation, ... ORPHA:2484
Multiple Sulfatase Deficiency
Hypoplastic vertebral bodies, Broad hallux, Hydrocephalus, Broad thumb, Hearing impairment OMIM:272200
Mitochondrial Dna Depletion Syndrome, Myopathic Form
Severe sensorineural hearing impairment, Recurrent pneumonia, Respiratory failure, Scoliosis, Res... ORPHA:254875
Cerebrooculofacioskeletal Syndrome 3
Low-set ears, Rocker bottom foot, Micrognathia, Microphthalmia, Talipes equinovarus OMIM:616570
Multiple Epiphyseal Dysplasia Type 5
Genu varum, Premature osteoarthritis, Intervertebral disc degeneration, Delayed proximal femoral ... ORPHA:93311
Kniest Dysplasia
Coronal cleft vertebrae, Enlarged joints, Short neck, Abnormal cartilage collagen, Platyspondyly,... OMIM:156550
Anauxetic Dysplasia 3
Brachydactyly, Broad middle phalanx of finger, Trident hand, Plagiocephaly, Thoracolumbar kyphosc... OMIM:618853
2Q24 Microdeletion Syndrome
Toe syndactyly, Bullet-shaped distal phalanx of the hallux, Short neck, Low-set, posteriorly rota... ORPHA:1617
Greenberg Dysplasia
Brachydactyly, Anterior rib punctate calcifications, Abnormal form of the vertebral bodies, Abnor... ORPHA:1426
Fibuloulnar Aplasia Or Hypoplasia With Renal Abnormalities
Hypoplasia of the ulna, Respiratory failure, Micrognathia, Neonatal death, Respiratory insufficie... OMIM:228940
Spondyloepimetaphyseal Dysplasia, Irapa Type
Synostosis of carpal bones, Short palm, Abnormality of epiphysis morphology, Short metacarpal, Up... ORPHA:93351
Metaphyseal Acroscyphodysplasia
Genu varum, Cone-shaped metacarpal epiphyses, Micromelia, Scoliosis, Short toe, Metaphyseal widen... OMIM:250215
Genu varum, Flared femoral metaphysis, Scoliosis, Irregular carpal bones, Metaphyseal widening, F... OMIM:177170
Spondyloepimetaphyseal Dysplasia, Strudwick Type
Brachydactyly, Metaphyseal irregularity, Hypoplastic pubic bone, Anterior rib cupping, Delayed pu... OMIM:184250
Conductive Deafness-Malformed External Ear Syndrome
Low-set ears, Conductive hearing impairment, Sensorineural hearing impairment, Microtia, Overfold... ORPHA:3216
Sillence Syndrome
Abnormal distal phalanx morphology of finger, Aplasia of the middle phalanx of the hand, Abnormal... ORPHA:3168
Femoral-Facial Syndrome
Abnormal sacrum morphology, Abnormality of pelvic girdle bone morphology, Preaxial foot polydacty... ORPHA:1988
Saul-Wilson Syndrome
Coxa valga, Intrauterine growth retardation, Cone-shaped epiphyses of the phalanges of the hand, ... OMIM:618150
Spondyloperipheral Dysplasia-Short Ulna Syndrome
Irregular epiphyses, Flattened epiphysis, Aplasia/hypoplasia involving bones of the extremities, ... ORPHA:1856
Spondyloepimetaphyseal Dysplasia With Abnormal Dentition
Narrow iliac wing, Slender finger, Flattened epiphysis, Metaphyseal irregularity, Short femoral n... OMIM:601668
Spinal Muscular Atrophy, Type I
Respiratory insufficiency, Respiratory failure, Death in childhood OMIM:253300
Acropectorovertebral Dysplasia
Synostosis of carpal bones, Toe syndactyly, Finger syndactyly, Bifid distal phalanx of the thumb,... OMIM:102510
Short Stature, Brussels Type
Horseshoe kidney, Narrow chest, Microretrognathia, Delayed epiphyseal ossification, Calcification... ORPHA:2867
Jeune Syndrome
Brachydactyly, Toe syndactyly, Abnormality of pelvic girdle bone morphology, Postaxial foot polyd... ORPHA:474
Brachydactylous Dwarfism, Mseleni Type
Joint subluxation, Hip osteoarthritis, Brachytelomesophalangy, Knee osteoarthritis, Platyspondyly... ORPHA:2619
Earlobes, Thickened, With Conductive Deafness From Incudostapedial Abnormalities
Abnormality of the outer ear, Congenital conductive hearing impairment, Conductive hearing impair... OMIM:128980
Spondylocostal Dysostosis 2, Autosomal Recessive
Vertebral clefting, Short neck, Restrictive ventilatory defect, Vertebral segmentation defect, He... OMIM:608681
Microcephalic Osteodysplastic Dysplasia, Saul-Wilson Type
Irregularity of vertebral bodies, Short palm, Cone-shaped epiphyses of the phalanges of the hand,... ORPHA:85172
Congenital Muscular Dystrophy With Intellectual Disability
Respiratory failure, Scoliosis, Decreased cervical spine mobility, Respiratory insufficiency, Spi... ORPHA:370968
Bowing of the long bones, Coxa valga, Square pelvis bone, Short palm, Delayed eruption of teeth, ... ORPHA:166272
Spondylometaphyseal Dysplasia With Cone-Rod Dystrophy
Cupped ribs, Brachydactyly, Recurrent otitis media, Hypoplastic inferior ilia, Ovoid vertebral bo... OMIM:608940
Laryngotracheoesophageal Cleft Type 4
Abnormal form of the vertebral bodies, Tracheoesophageal fistula, Abnormal rib morphology, Trache... ORPHA:93941
Fryns Microphthalmia Syndrome
Abnormality of the vertebral column, Abnormality of the ear, Anophthalmia, Microphthalmia, Neural... OMIM:600776
Microbrachycephaly-Ptosis-Cleft Lip Syndrome
Brachydactyly, Abnormal thumb morphology, Short palm, Cone-shaped epiphysis, Flat occiput, Hyperl... ORPHA:2511
Muscular Dystrophy, Congenital, 1B
Respiratory failure, Spinal rigidity OMIM:604801
Fibrochondrogenesis 2
Hypoplastic ischia, Hypoplastic pubic bone, Short ribs, Metaphyseal cupping, Platyspondyly, Micro... OMIM:614524
Short-Rib Thoracic Dysplasia 18 With Polydactyly
Brachydactyly, Hypoplastic ischia, Decreased calvarial ossification, Missing ribs, Hydrocephalus,... OMIM:617866
Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome
High-frequency sensorineural hearing impairment, Sensorineural hearing impairment, Respiratory fa... ORPHA:2590
Juberg-Hayward Syndrome
Toe syndactyly, Horseshoe kidney, Intrauterine growth retardation, Hammertoe, Short thumb, Hypopl... ORPHA:2319
Spondyloepimetaphyseal Dysplasia, Missouri Type
Genu varum, Flattened epiphysis, Flared iliac wing, Rhizomelia, Tibial bowing, Flared, irregular ... OMIM:602111
Spondylometaphyseal Dysplasia With Corneal Dystrophy
Brachydactyly, Lumbar platyspondyly, Short ribs, Thoracic platyspondyly, Squared iliac bones, Bea... OMIM:618961
Desbuquois Dysplasia 1
Genu varum, Broad first metatarsal, Sandal gap, Broad femoral neck, Scoliosis, Short 1st metacarp... OMIM:251450
Chromosome 16Q22 Deletion Syndrome
Wormian bones, Short neck, Prominent metopic ridge, Broad hallux, Micrognathia, Frontal bossing, ... OMIM:614541
Bartsocas-Papas Syndrome 1
Absent thumb, Ectopic kidney, Short neck, Intrauterine growth retardation, Absent radius, Pterygi... OMIM:263650
Pontocerebellar Hypoplasia, Type 1C
Respiratory insufficiency, Respiratory failure, Hearing impairment OMIM:616081
Thanatophoric Dysplasia
Brachydactyly, Abnormal ilium morphology, Kyphosis, Intrauterine growth retardation, Short thorax... ORPHA:2655
Developmental And Epileptic Encephalopathy 71
Respiratory insufficiency, Respiratory failure OMIM:618328
Chondrodysplasia, Lethal, With Long Bone Angulation And Mixed Bone Density
Hypoplasia of the ulna, Lumbar platyspondyly, Fibular hypoplasia, Hypoplasia of the radius, Absen... OMIM:601376
Dyggve-Melchior-Clausen Syndrome, X-Linked
Distal ulnar hypoplasia, Scoliosis, Hallux valgus, Genu valgum, Thoracic kyphosis, Short neck, Co... OMIM:304950
Spondylocostal Dysostosis 1, Autosomal Recessive
Vertebral segmentation defect, Block vertebrae, Short neck, Back pain, Vertebral fusion, Abnormal... OMIM:277300
3M Syndrome
Horizontal ribs, Clinodactyly of the 5th finger, Micromelia, Scoliosis, Enlarged thorax, Scapular... ORPHA:2616
Osteoarthritis With Mild Chondrodysplasia
Heberden's node, Hip osteoarthritis, Knee osteoarthritis, Beaking of vertebral bodies, Platyspond... OMIM:604864
Spondyloepimetaphyseal Dysplasia, X-Linked, With Hypomyelinating Leukodystrophy
Brachydactyly, Flattened epiphysis, Wormian bones, Thoracic kyphosis, Short neck, Anterior rib cu... OMIM:300232
Hypophosphatasia, Infantile
Bowing of the legs, Elevated urine pyrophosphate, Nephrocalcinosis, Vertebral clefting, Decreased... OMIM:241500
Spondyloperipheral Dysplasia
Short thumb, Short distal phalanx of the 5th finger, Short toe, Brachydactyly, Flat capital femor... OMIM:271700
Smith-Mccort Dysplasia 2
Flattened epiphysis, Metaphyseal irregularity, Short neck, Short metacarpal, Hypoplasia of the od... OMIM:615222
Thanatophoric Dysplasia Type 1
Brachydactyly, Bowing of the long bones, Kyphosis, Short greater sciatic notch, Abnormality of th... ORPHA:1860
Autosomal Dominant Limb-Girdle Muscular Dystrophy Type 1A
Abnormal respiratory system physiology, Respiratory failure, Reduced vital capacity, Respiratory ... ORPHA:266
Osteogenesis Imperfecta, Type Iii
Decreased calvarial ossification, Wormian bones, Kyphosis, Thin ribs, Tibial bowing, Micrognathia... OMIM:259420
Cerebrooculofacioskeletal Syndrome 1
Abnormality of the ear, Coxa valga, Second metatarsal posteriorly placed, Rocker bottom foot, Sen... OMIM:214150
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 3
Metaphyseal irregularity, Hypoplasia of the ulna, Short neck, Dolichocephaly, Short femoral neck,... OMIM:618395
Ceroid Lipofuscinosis, Neuronal, 10
Low-set ears, Respiratory failure, Respiratory insufficiency, Neonatal death, Apnea, Split hand OMIM:610127
Thoracic Dysplasia-Hydrocephalus Syndrome
Communicating hydrocephalus, Conductive hearing impairment, Respiratory failure, Abnormality of t... ORPHA:1861
Brachyolmia, Maroteaux Type
Short thorax, Abnormal form of the vertebral bodies, Platyspondyly, Pectus excavatum, Scoliosis ORPHA:93302
Multiple Osteochondromas
Limitation of knee mobility, Abnormal pelvis bone morphology, Deformed radius, Abnormal morpholog... ORPHA:321
Hereditary Motor And Sensory Neuropathy, Type Iic
Hammertoe, Sensorineural hearing impairment, Respiratory failure, Down-sloping shoulders, Scolios... OMIM:606071
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type
Hypoplastic ischia, Wormian bones, Short neck, Short ribs, Dysplastic sacrum, Squared iliac bones... OMIM:613320
Meckel Syndrome, Type 8
Anophthalmia, Short neck, Low-set ears, Polydactyly, Microphthalmia, Postaxial hand polydactyly, ... OMIM:613885
Ghosal Hematodiaphyseal Dysplasia
Bowing of the long bones, Abnormality of pelvic girdle bone morphology, Abnormal form of the vert... ORPHA:1802
Mitochondrial Complex I Deficiency, Nuclear Type 30
Neonatal death, Respiratory failure OMIM:301021
Isolated Klippel-Feil Syndrome
Abnormality of the vertebral column, Abnormal sacrum morphology, Cervical C2/C3 vertebral fusion,... ORPHA:2345
Microphthalmia, Syndromic 3
Vertebral hypoplasia, Missing ribs, Supernumerary ribs, Anophthalmia, Sensorineural hearing impai... OMIM:206900
Metaphyseal Dysplasia With Maxillary Hypoplasia With Or Without Brachydactyly
Short 5th metacarpal, Multiple small vertebral fractures, Platyspondyly, Flared metaphysis, Short... OMIM:156510
Platyspondylic Lethal Skeletal Dysplasia, Torrance Type
Hypoplastic ischia, Hypoplastic pubic bone, Short neck, Short ribs, Thin ribs, Narrow chest, Meta... OMIM:151210
Spondylometaphyseal Dysplasia, A4 Type
Short palm, Platyspondyly, Micromelia, Flared, irregular rib ends, Coxa vara ORPHA:168555
Ulna And Fibula, Absence Of, With Severe Limb Deficiency
Decreased calvarial ossification, Aplasia/Hypoplasia involving the carpal bones, Aplasia of the u... OMIM:276820
Greig Cephalopolysyndactyly Syndrome
Metopic synostosis, Camptodactyly of toe, Broad hallux, Postaxial hand polydactyly, Delayed crani... OMIM:175700
Spondyloepiphyseal Dysplasia, Kimberley Type
Short thorax, Abnormality of epiphysis morphology, Osteoarthritis, Platyspondyly, Micromelia ORPHA:93283
Multiple Epiphyseal Dysplasia With Robin Phenotype
Fibular hypoplasia, Micrognathia, Scoliosis, Genu valgum, Brachydactyly, Flat capital femoral epi... OMIM:601560
Grant Syndrome
Bowing of the long bones, Wormian bones, Abnormality of pelvic girdle bone morphology, Joint disl... ORPHA:2097
Larsen Syndrome
Cervical kyphosis, Multiple carpal ossification centers, Bipartite calcaneus, Tracheomalacia, Sho... OMIM:150250
Craniometadiaphyseal Dysplasia, Wormian Bone Type
Wormian bones, Coxa valga, Broad femoral neck, Micrognathia, Broad ribs, Thin calvarium, Overtubu... ORPHA:85184
17Q12 Microduplication Syndrome
Toe syndactyly, Finger syndactyly, Tracheoesophageal fistula, Abnormal vertebral morphology, Micr... ORPHA:261272
Second Metatarsal-Metacarpal Syndrome
Abnormal metacarpal morphology, Synostosis of carpals/tarsals, Platyspondyly OMIM:269630
Mucopolysaccharidosis, Type Iva
Keratan sulfate excretion in urine, Cervical myelopathy, Coxa valga, Ovoid vertebral bodies, Kyph... OMIM:253000
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome
Anophthalmia, 11 pairs of ribs, Tracheoesophageal fistula, Abnormal vertebral morphology, Microph... ORPHA:77298
Mesomelic Dysplasia, Kantaputra Type
Synostosis of carpal bones, Clinodactyly of the 5th finger, Abnormality of fibula morphology, Abn... ORPHA:1836
Spondyloepimetaphyseal Dysplasia With Multiple Dislocations
Genu varum, Radial head subluxation, Scoliosis, Fragmented epiphyses, Genu valgum, Abnormal metat... ORPHA:93360
Neurogenic Thoracic Outlet Syndrome
Abnormal rib morphology ORPHA:100073
Rhizomelic Dysplasia, Ain-Naz Type
Short femoral neck, Hypoplasia of the femoral head, Wide distal femoral metaphysis, Rhizomelia, P... OMIM:619598
Otospondylomegaepiphyseal Dysplasia, Autosomal Dominant
Premature osteoarthritis, Enlarged epiphyses, Platyspondyly, Midface retrusion, Epiphyseal dysplasia OMIM:184840
Lethal Short-Limb Skeletal Dysplasia, Al Gazali Type
Bilateral talipes equinovarus, Wormian bones, Shortening of all phalanges of fingers, Platyspondy... OMIM:601356
Pseudodiastrophic Dysplasia
Short neck, Rhizomelia, Hypoplasia of the odontoid process, Elbow dislocation, Platyspondyly, Ton... OMIM:264180
Osteogenesis Imperfecta, Type Ix
Wormian bones, Decreased calvarial ossification, Kyphosis, Platyspondyly, Pectus excavatum, Scoli... OMIM:259440
Osteogenesis Imperfecta, Type Ii
Wormian bones, Abnormality of pelvic girdle bone morphology, Thin ribs, Tibial bowing, Crumpled l... OMIM:166210
Atelosteogenesis Type I
Brachydactyly, Coronal cleft vertebrae, Absent or minimally ossified vertebral bodies, Rhizomelia... ORPHA:1190
Progressive Pseudorheumatoid Dysplasia
Genu varum, Flattened epiphysis, Enlargement of the proximal femoral epiphysis, Joint contracture... OMIM:208230
Yunis-Varon Syndrome
Clinodactyly, Absent sternal ossification, Absent middle phalanx of 2nd finger, Decreased calvari... OMIM:216340
Bresek Syndrome
Hydrocephalus, Low-set ears, Optic nerve hypoplasia, Microphthalmia, Scoliosis, Postaxial hand po... ORPHA:85284
Congenital Anomalies Of Kidney And Urinary Tract Syndrome With Or Without Hearing Loss, Abnormal Ears, Or Developmental Delay
Unilateral renal agenesis, Renal agenesis, Ectopic kidney, Bifid ureter, Horseshoe kidney, Decrea... OMIM:617641
Thoracolaryngopelvic Dysplasia
Horizontal ribs, Short ribs, Irregular chondrocostal junctions, Irregular vertebral endplates, Hy... OMIM:187760
Autosomal Dominant Spondylocostal Dysostosis
Abnormal sacrum morphology, Missing ribs, Short neck, Short thorax, Hyperlordosis, Posterior rib ... ORPHA:1797
Pseudodiastrophic Dysplasia
Rhizomelia, Elbow dislocation, Platyspondyly, Scoliosis, Talipes equinovarus, Phalangeal dislocation ORPHA:85174
Hereditary Motor And Sensory Neuropathy, Okinawa Type
Respiratory failure requiring assisted ventilation, Respiratory failure, Cough, Dyspnea, Aspirati... ORPHA:90117
Cartilage-Hair Hypoplasia
Abnormal hip bone morphology, Abnormal distal phalanx morphology of finger, Abnormal rib morpholo... ORPHA:175
Autosomal Recessive Spondylocostal Dysostosis
Prominent occiput, Abnormality of the ureter, Finger syndactyly, Intrauterine growth retardation,... ORPHA:2311
Spondyloepiphyseal Dysplasia, Maroteaux Type
Genu valgum, Platyspondyly OMIM:184095
Brachydactyly, Genu varum, Bowing of the long bones, Abnormality of pelvic girdle bone morphology... ORPHA:429
Mandibulofacial Dysostosis-Microcephaly Syndrome
Abnormality of the outer ear, Large earlobe, Absent tragus, Underdeveloped tragus, Low-set ears, ... ORPHA:79113
Radio-Renal Syndrome
Brachydactyly, Chylothorax, Short neck, Short palm, Abnormal form of the vertebral bodies, Respir... ORPHA:3015
Cole-Carpenter Syndrome
Bowing of the long bones, Communicating hydrocephalus, Wormian bones, Kyphosis, Intrauterine grow... ORPHA:2050
Otospondylomegaepiphyseal Dysplasia
Coronal cleft vertebrae, Abnormal pelvis bone morphology, Sandal gap, Flared femoral metaphysis, ... ORPHA:1427
Gm1-Gangliosidosis, Type Iii
Kyphosis, Flared iliac wing, Anterior beaking of lumbar vertebrae, Hypoplastic acetabulae, Platys... OMIM:230650
Camptodactyly Syndrome, Guadalajara, Type I
Small earlobe, Fibular hypoplasia, Twelfth rib hypoplasia, Hypoplastic iliac wing, Hallux valgus,... OMIM:211910
Osteogenesis Imperfecta, Type V
Wormian bones, Abnormality of pelvic girdle bone morphology, Vertebral wedging, Anterior radial h... OMIM:610967
Dyssegmental Dysplasia, Silverman-Handmaker Type
Bowing of the long bones, Micrognathia, Anisospondyly, Thoracic hypoplasia, Posteriorly rotated e... OMIM:224410
Spondyloepiphyseal Dysplasia Tarda, X-Linked
Irregular epiphyses, Short neck, Kyphosis, Short femoral neck, Hip osteoarthritis, Shield chest, ... OMIM:313400
Mucopolysaccharidosis, Type Ivb
Cervical myelopathy, Restrictive ventilatory defect, Kyphosis, Ovoid vertebral bodies, Coxa valga... OMIM:253010
Deafness, Conductive, With Malformed External Ear
Conductive hearing impairment, Low-set ears, Abnormality of the middle ear ossicles OMIM:221300
Tetrasomy 9P
Missing ribs, Aplasia/Hypoplasia of the clavicles, Clinodactyly of the 5th finger, Hydronephrosis... ORPHA:3310
Spondylocamptodactyly Syndrome
Camptodactyly of finger, Scoliosis, Platyspondyly ORPHA:3180
Renal Cysts And Diabetes Syndrome
Unilateral renal agenesis, Glycosuria, Renal cyst, Nephrolithiasis, Decreased numbers of nephrons... OMIM:137920
Ulnar-Mammary Syndrome
Aplasia of the 5th metacarpal, Deformed radius, Aplasia of the ulna, Short 4th toe, Aplasia of th... OMIM:181450
Pierpont Syndrome
Uplifted earlobe, Short neck, Microphthalmia, Scoliosis, Posteriorly rotated ears, Macrotia, Shor... ORPHA:487825
Osteogenesis Imperfecta, Type Vii
Bowing of the legs, Decreased calvarial ossification, Wormian bones, Vertebral compression fractu... OMIM:610682
Spondyloepiphyseal Dysplasia Tarda, Autosomal Dominant
Avascular necrosis of the capital femoral epiphysis, Short neck, Cervical subluxation, Hypoplasia... OMIM:184100
Sprengel Deformity
Scoliosis, Sprengel anomaly, Spina bifida occulta, Cervical segmentation defect, Hemivertebrae, R... OMIM:184400
Thoracomelic Dysplasia
Abnormality of pelvic girdle bone morphology, Short neck, Short ribs, Abnormality of fibula morph... ORPHA:1803
Phaver Syndrome
Myelomeningocele, Abnormal form of the vertebral bodies, Low-set ears, Conductive hearing impairm... ORPHA:2876
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome
Cupped ribs, Metaphyseal spurs, Scoliosis, Narrow greater sciatic notch, Brachydactyly, Bowing of... ORPHA:85167
X-Linked Dominant Chondrodysplasia Punctata
Neonatal epiphyseal stippling, Anterior rib punctate calcifications, Low-set ears, Sensorineural ... ORPHA:35173
Brachyolmia Type 4 With Mild Epiphyseal And Metaphyseal Changes
Brachydactyly, Bowing of the legs, Platyspondyly, Lower limb undergrowth, Irregular vertebral end... OMIM:612847
Intellectual Disability-Polydactyly-Uncombable Hair Syndrome
Toe syndactyly, Short neck, Kyphosis, Abnormality of epiphysis morphology, Metatarsus valgus, Apl... ORPHA:3082
Humerofemoral Hypoplasia With Radiotibial Ray Deficiency
Absent thumb, Bilateral talipes equinovarus, Hypoplastic scapulae, Hypoplastic pelvis, Short clav... OMIM:618022
Metaphyseal Dysostosis, Mental Retardation, And Conductive Deafness
Cupped ribs, Narrow iliac wing, Recurrent otitis media, Genu varum, Scoliosis, Metaphyseal wideni... OMIM:250420
Microcephaly-Cervical Spine Fusion Anomalies Syndrome
Abnormal hip bone morphology, Abnormality of the ureter, Short neck, Kyphosis, Hyperlordosis, Mic... ORPHA:2522
Butyrylcholinesterase Deficiency
Respiratory failure, Respiratory failure requiring assisted ventilation ORPHA:132
Nanophthalmos 1
Bilateral microphthalmos OMIM:600165
Microphthalmia, Isolated 7
Microphthalmia OMIM:613704
Nanophthalmos 2
Microphthalmia OMIM:609549
Axial Mesodermal Dysplasia Spectrum
Hydrocephalus, Renal cyst, Abnormality of the ureter, Abnormality of pelvic girdle bone morpholog... ORPHA:1834
Congenital Disorder Of Glycosylation, Type Iig
Butterfly vertebrae, Vertebral segmentation defect, Short neck, Intrauterine growth retardation, ... OMIM:611209
Epiphyseal Dysplasia, Multiple, With Early-Onset Diabetes Mellitus
Narrow iliac wing, Irregular carpal bones, Genu valgum, Hip dislocation, Shortening of all middle... OMIM:226980
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type
Wormian bones, Short neck, Intrauterine growth retardation, Micropenis, Decreased fibular diamete... OMIM:616897
Macrosomia-Microphthalmia-Cleft Palate Syndrome
Microphthalmia, Respiratory insufficiency ORPHA:2432
Cofs Syndrome
Short neck, Camptodactyly of finger, Sensorineural hearing impairment, Micrognathia, Microphthalm... ORPHA:1466
Renal Dysplasia-Limb Defects Syndrome
Short neck, Phocomelia, Low-set ears, Short sternum, Short ribs, Short metacarpal, Thin ribs, Res... OMIM:266910
Spondylometaepiphyseal Dysplasia, Short Limb-Hand Type
Micrognathia, Micromelia, Scoliosis, Broad long bones, Bowing of the legs, Short ribs, Short phal... OMIM:271665
Cooper-Jabs Syndrome
Abnormal hip bone morphology, Missing ribs, Camptodactyly of finger, Conductive hearing impairmen... ORPHA:1488
Spondylometaphyseal Dysplasia, Algerian Type
Hypoplasia of proximal radius, Anterior rib cupping, Short greater sciatic notch, Short long bone... OMIM:184253
Craniometadiaphyseal Dysplasia
Genu varum, Absent paranasal sinuses, Wormian bones, Coxa valga, Flared metaphysis, Natal tooth, ... OMIM:269300
Macrosomia With Microphthalmia, Lethal
Microphthalmia OMIM:248110
Neutropenia, Lethal Congenital, With Eosinophilia
Neonatal death OMIM:257100
Spondyloepiphyseal Dysplasia Congenita
Flattened epiphysis, Atlantoaxial instability, Short neck, Ovoid vertebral bodies, Kyphosis, Rest... OMIM:183900
Multiple Synostoses Syndrome 1
Carpal synostosis, Clinodactyly of the 5th finger, Absent distal phalanges, Spinal canal stenosis... OMIM:186500
Craniodiaphyseal Dysplasia
Conductive hearing impairment, Abnormal rib morphology, Diaphyseal thickening, Stenosis of the ex... ORPHA:1513
Acrodysostosis With Multiple Hormone Resistance
Brachydactyly, Hypoplastic vertebral bodies, Short metacarpal, Cone-shaped epiphysis, Short phala... ORPHA:280651
Hartsfield Syndrome
Encephalocele, Lobar holoprosencephaly, Low-set, posteriorly rotated ears, Microphthalmia, Respir... ORPHA:2117
Missing ribs, Short neck, Absent or minimally ossified vertebral bodies, Short thorax, Myelomenin... ORPHA:66637
Congenital Neuronal Ceroid Lipofuscinosis
Low-set ears, Respiratory failure, Central sleep apnea, Aplasia/Hypoplasia of the external ear, N... ORPHA:168486
Thanatophoric Dysplasia Type 2
Brachydactyly, Kyphosis, Short thorax, Abnormality of the kidney, Platyspondyly, Micromelia, Clov... ORPHA:93274
Progressive Spondyloepimetaphyseal Dysplasia-Short Stature-Short Fourth Metatarsals-Intellectual Disability Syndrome
Abnormal hip bone morphology, Clinodactyly of the 5th finger, Cone-shaped epiphysis, Thoracic pla... ORPHA:457395
Progressive External Ophthalmoplegia-Myopathy-Emaciation Syndrome
Kyphosis, Respiratory failure, Dyspnea, Respiratory insufficiency due to muscle weakness, Spinal ... ORPHA:352447
Cole-Carpenter Syndrome 2
Narrow iliac wing, Lambdoidal craniosynostosis, Wormian bones, Kyphosis, Coronal craniosynostosis... OMIM:616294
Neural Tube Defects, Susceptibility To
Myelomeningocele, Sacral dimple, Anencephaly, Absence of the sacrum, Asymmetry of spinal facet jo... OMIM:182940
Sandestig-Stefanova Syndrome
Clinodactyly, Short neck, Underdeveloped tragus, Low-set ears, Rocker bottom foot, Respiratory fa... OMIM:618804
Nanophthalmos 4
Microphthalmia OMIM:615972
Lung Agenesis-Heart Defect-Thumb Anomalies Syndrome
Abnormal thumb morphology, Abnormal helix morphology, Triphalangeal thumb, Short thumb, Respirato... ORPHA:1120
Rhizomelic Dysplasia, Patterson-Lowry Type
Brachydactyly, Rhizomelia, Short metacarpal, Platyspondyly, Short humerus, Deformed humeral heads... OMIM:601438
Chromosome 1Q41-Q42 Deletion Syndrome
Vertebral segmentation defect, Holoprosencephaly, Microtia, Microphthalmia, Talipes equinovarus OMIM:612530
Achondrogenesis, Type Ib
Absent or minimally ossified vertebral bodies, Short ribs, Narrow chest, Micromelia, Hypoplastic ... OMIM:600972
Mucopolysaccharidosis, Type X
Posterior scalloping of vertebral bodies, Spatulate ribs, Nephrolithiasis, Irregular acetabular r... OMIM:619698
Microphthalmia, Isolated, With Cataract 1
Microphthalmia OMIM:156850
Hypoplastic ischia, Horizontal ribs, Aplastic pubic bones, Short thorax, Short ribs, Craniofacial... ORPHA:3003
Microcephaly And Chorioretinopathy, Autosomal Recessive, 3
Microphthalmia OMIM:616335
Lateral Meningocele Syndrome
Short neck, Kyphosis, Low-set ears, Conductive hearing impairment, Micrognathia, Pectus excavatum... OMIM:130720
Smith-Magenis Syndrome
Abnormality of the outer ear, Brachydactyly, Short palm, Scoliosis, Morphological abnormality of ... OMIM:182290
Bruck Syndrome 1
Kyphosis, Pterygium, Vertebral wedging, Ankle flexion contracture, Platyspondyly, Knee flexion co... OMIM:259450
Postsynaptic Congenital Myasthenic Syndromes
Thoracic kyphoscoliosis, Restrictive ventilatory defect, Respiratory failure, Exertional dyspnea,... ORPHA:98913
Ritscher-Schinzel Syndrome 3
Shortening of all distal phalanges of the fingers, Hypoplasia of the ulna, Epiphyseal stippling, ... OMIM:619135
Vitamin K Antagonist Embryofetopathy
Brachydactyly, Myelomeningocele, Short neck, Epiphyseal stippling, Microtia, Aplasia/Hypoplasia a... ORPHA:1914
Phocomelia-Ectrodactyly, Ear Malformation, Deafness, And Sinus Arrhythmia
Genu varum, Shoulder dislocation, Phocomelia, Absent radius, Fibular hypoplasia, Aplasia/Hypoplas... OMIM:171480
Antenatal Multiminicore Disease With Arthrogryposis Multiplex Congenita
Clinodactyly, Kyphosis, Short neck, Low-set ears, Scoliosis, Reduced vital capacity, Bell-shaped ... ORPHA:178148
Lateral Meningocele Syndrome
Short neck, Kyphosis, Low-set ears, Abnormal form of the vertebral bodies, Sensorineural hearing ... ORPHA:2789
Hereditary Sensory And Autonomic Neuropathy Type 2
Abnormal hip bone morphology, Wormian bones, Abnormality of epiphysis morphology, Tapered finger,... ORPHA:970
Mucopolysaccharidosis, Type Vi
Hypoplastic iliac wing, Anterior wedging of L2, Metaphyseal widening, Genu valgum, Hip dysplasia,... OMIM:253200
Pierpont Syndrome
Short neck, Short palm, Microphthalmia, Scoliosis, Posteriorly rotated ears, Large fleshy ears, S... OMIM:602342
Potocki-Shaffer syndrome
Parietal foramina, Delayed cranial suture closure DECIPHER:34
Acrofacial Dysostosis, Palagonia Type
Short 4th metacarpal, Hypoplasia of the odontoid process, Abnormal vertebral morphology, Cutaneou... OMIM:601829
Combined Oxidative Phosphorylation Deficiency 51
Neonatal respiratory distress, Aspiration pneumonia, Respiratory failure, Hearing impairment OMIM:619057
Tetraamelia-Multiple Malformations Syndrome
Missing ribs, Septo-optic dysplasia, Tetraamelia, Aplasia/Hypoplasia involving the pelvis, Microt... ORPHA:3301
Nemaline Myopathy 8
Death in infancy, Respiratory failure OMIM:615348
Mosaic Trisomy 14
Short neck, Narrow chest, Microtia, Aplasia/Hypoplasia affecting the eye, Abnormal rib morphology... ORPHA:1703
Hypertelorism-Hypospadias-Polysyndactyly Syndrome
Encephalocele, Finger syndactyly, Sacral dimple, Abnormal penis morphology, Preaxial hand polydac... ORPHA:2211
Myopathy, Myofibrillar, Fatal Infantile Hypertonic, Alpha-B Crystallin-Related
Apnea, Respiratory failure, Respiratory insufficiency OMIM:613869
Osteogenesis Imperfecta, Type Xii
Wormian bones, Delayed eruption of teeth, Micrognathia, Midface retrusion, Scoliosis, Pectus cari... OMIM:613849
Subaortic Stenosis-Short Stature Syndrome
Synostosis of carpal bones, Kyphosis, Short neck, Micrognathia, Low-set, posteriorly rotated ears... ORPHA:3191
Ossicular Malformations, Familial
Congenital conductive hearing impairment, Abnormality of the middle ear ossicles OMIM:165680
Pontocerebellar Hypoplasia, Type 4
Death in infancy, Respiratory failure OMIM:225753
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 3
Flat capital femoral epiphysis, Flattened epiphysis, Delayed eruption of teeth, Short femoral nec... OMIM:612350
Cortical Dysplasia, Complex, With Other Brain Malformations 6
Microphthalmia OMIM:615771
Monosomy 18P
Brachydactyly, Short neck, Micrognathia, Pectus excavatum, Microphthalmia, Abnormal antihelix mor... ORPHA:1598
Osteogenesis Imperfecta, Type Xxi
Bowing of the legs, Bowing of the arm, Wormian bones, Coxa valga, Platyspondyly, Pectus excavatum... OMIM:619131
Chondroectodermal Dysplasia With Night Blindness
Fractures of the long bones, Metaphyseal irregularity, Platyspondyly, Micrognathia, Abnormal pate... ORPHA:319195
Vacterl With Hydrocephalus
Abnormality of the outer ear, Anophthalmia, Abnormal form of the vertebral bodies, Tracheoesophag... ORPHA:3412
Cleft Palate, Proliferative Retinopathy, And Developmental Delay
Retinal neovascularization OMIM:619074
Robinow Syndrome, Autosomal Recessive 1
Clinodactyly, Missing ribs, Hydronephrosis, Bifid distal phalanx of toe, Micrognathia, Scoliosis,... OMIM:268310
Microphthalmia, Syndromic 13
Anteverted ears, Kyphoscoliosis, Microphthalmia OMIM:300915
Desbuquois Dysplasia 2
Genu varum, Radial head subluxation, Metaphyseal widening, Narrow chest, Broad thumb, Hip disloca... OMIM:615777
Osteopathia Striata-Cranial Sclerosis Syndrome
Delayed eruption of teeth, Asymmetry of the thorax, Large iliac wing, Hyperlordosis, Micrognathia... ORPHA:2780
Acromesomelic Dysplasia 4
Genu varum, Prominent deltoid tuberosities, Sandal gap, Thoracic platyspondyly, Short toe, Genu v... OMIM:619636
Spondyloepiphyseal Dysplasia Tarda, Autosomal Recessive
Flattened metatarsal heads, Hip osteoarthritis, Flattened metacarpal heads, Osteoarthritis, Platy... OMIM:271600
Fibrodysplasia Ossificans Progressiva
Abnormality of the first metatarsal bone, Clinodactyly of the 5th finger, Short hallux, Abnormal ... ORPHA:337
Spondyloepiphyseal Dysplasia, Myopia, And Sensorineural Deafness
Clinodactyly, Short neck, Platyspondyly, Flattened femoral head, Lumbar hyperlordosis, Hypoplasia... OMIM:184000
Spondylometaphyseal Dysplasia, Pagnamenta Type
Wormian bones, Thoracic kyphosis, Short 5th metacarpal, Short 4th metacarpal, Rhizomelia, Platysp... OMIM:619638
Chondrodysplasia Punctata 2, X-Linked Dominant
Bilateral talipes equinovarus, Abnormality of pelvic girdle bone morphology, Short neck, Rhizomel... OMIM:302960
Short-Rib Thoracic Dysplasia 11 With Or Without Polydactyly
Brachydactyly, Horizontal ribs, Postaxial polydactyly, Lateral clavicle hook, Thoracic dysplasia,... OMIM:615633
Spondyloepimetaphyseal Dysplasia, X-Linked
Delayed ossification of carpal bones, Cone-shaped metacarpal epiphyses, Prominent styloid process... OMIM:300106
Osteogenesis Imperfecta, Type Xiii
Wormian bones, Dislocated radial head, Platyspondyly, Arachnodactyly, Scoliosis, Pectus carinatum... OMIM:614856
3-Methylglutaconic Aciduria, Type Viii
Apnea, Death in infancy, Respiratory failure, Sensorineural hearing impairment OMIM:617248
Hypo- And Hypermelanotic Cutaneous Macules-Retarded Growth-Intellectual Disability Syndrome
Abnormal rib morphology ORPHA:2435
Gm1-Gangliosidosis, Type Ii
Coxa valga, Platyspondyly OMIM:230600
Asbestos Intoxication
Nonproductive cough, Restrictive ventilatory defect, Hypoxemia, Late inspiratory crackles, Oxygen... ORPHA:2302
Mucopolysaccharidosis Type 4
Bowing of the long bones, Coxa valga, Short neck, Abnormality of epiphysis morphology, Kyphosis, ... ORPHA:582
Cenani-Lenz Syndrome
Synostosis of carpal bones, Toe syndactyly, Hypoplasia of the ulna, Finger syndactyly, Abnormal f... ORPHA:3258
Hydrocephalus-Costovertebral Dysplasia-Sprengel Anomaly Syndrome
Brachydactyly, Abnormal form of the vertebral bodies, Low-set ears, Sandal gap, Abnormal rib morp... ORPHA:2180
Kyphomelic Dysplasia
Anterior rib cupping, Low-set ears, Short metacarpal, Undulate ribs, Tibial bowing, Lateral clavi... OMIM:211350
Cerebrooculofacioskeletal Syndrome 2
Camptodactyly of finger, Rocker bottom foot, Micrognathia, Death in childhood, Microphthalmia, Ky... OMIM:610756
Otospondylomegaepiphyseal Dysplasia, Autosomal Recessive
Coronal cleft vertebrae, Short long bone, Premature osteoarthritis, Short palm, Enlarged joints, ... OMIM:215150
Spondyloepiphyseal Dysplasia-Brachydactyly And Distinctive Speech
Anterior scalloping of vertebral bodies, Hypoplastic iliac wing, Short toe, Brachydactyly, Short ... OMIM:611717
Ring Chromosome 10 Syndrome
Large earlobe, Short neck, Low-set ears, Sandal gap, Tapered finger, Micrognathia, Pectus excavat... ORPHA:1438
Vacterl/Vater Association
Renal agenesis, Abnormal sacrum morphology, Ectopic kidney, Finger syndactyly, Intrauterine growt... ORPHA:887
Spondyloepimetaphyseal Dysplasia Congenita, Strudwick Type
Aplasia/hypoplasia involving bones of the extremities, Hypoplastic pubic bone, Delayed ossificati... ORPHA:93346
Rhizomelic Dysplasia, Patterson-Lowry Type
Brachydactyly, Abnormal form of the vertebral bodies, Deviation of finger, Rhizomelia, Short meta... ORPHA:2831
Mitochondrial Dna Depletion Syndrome 9 (Encephalomyopathic Type With Methylmalonic Aciduria)
Neonatal respiratory distress, Respiratory failure, Respiratory insufficiency, Death in childhood... OMIM:245400
Osteoporosis-Macrocephaly-Blindness-Joint Hyperlaxity Syndrome
Brachydactyly, Short distal phalanx of finger, Wormian bones, Frontal bossing ORPHA:2787
White Forelock With Malformations
Finger syndactyly, Dolichocephaly, Clinodactyly of the 5th finger, Abnormal rib morphology, Spren... ORPHA:2475
Faciothoracogenital Syndrome
Microphthalmia, Micrognathia, Pectus excavatum OMIM:227320
Frontonasal Dysplasia 1
Brachydactyly, Clinodactyly, Hypoplastic frontal sinuses, Low-set ears, Cranium bifidum occultum,... OMIM:136760
Spondylo-Ocular Syndrome
Thoracic kyphosis, Short neck, Low-set ears, Aplasia/Hypoplasia of the lens, Platyspondyly, Micro... ORPHA:85194
Autosomal Recessive Stickler Syndrome
Abnormality of epiphysis morphology, Platyspondyly, Micrognathia, Irregular vertebral endplates, ... ORPHA:250984
Spondylocostal Dysostosis 5
Missing ribs, Short neck, Supernumerary ribs, Posterior rib fusion, Scoliosis, Low back pain, Ver... OMIM:122600
Spondylometaphyseal Dysplasia, Sedaghatian Type
Cupped ribs, Cone-shaped metacarpal epiphyses, 11 pairs of ribs, Short toe, Narrow greater sciati... OMIM:250220
Bone Dysplasia, Lethal, Holmgren Type
Short ribs, Respiratory insufficiency, Narrow chest, Bell-shaped thorax OMIM:211120
Holt-Oram Syndrome
Absent thumb, Kyphosis, Phocomelia, Finger syndactyly, Triphalangeal thumb, Abnormal rib morpholo... ORPHA:392
Bruck Syndrome 2
Wormian bones, Pterygium, Platyspondyly, Hydroxyprolinuria, Knee flexion contracture, Talipes equ... OMIM:609220
Klippel-Feil Syndrome 1, Autosomal Dominant
Cervical C2/C3 vertebral fusion, Short neck, Abnormality of limb bone morphology, Conductive hear... OMIM:118100
Hall-Riggs Mental Retardation Syndrome
Brachydactyly, Kyphosis, Intrauterine growth retardation, Platyspondyly, Scoliosis, Metaphyseal d... OMIM:234250
Slc39A13-Related Spondylodysplastic Ehlers-Danlos Syndrome
Flat capital femoral epiphysis, Flattened epiphysis, Short femoral neck, Broad femoral neck, Tape... ORPHA:157965
Trisomy 13
Abnormality of pelvic girdle bone morphology, Kyphosis, Abnormal helix morphology, Low-set ears, ... ORPHA:3378
Microcephaly-Micromelia Syndrome
Short neck, Low-set ears, Absent radius, Oligodactyly, Micrognathia, Abnormal rib morphology, Mic... OMIM:251230
Warburg Micro Syndrome 1
Low-set ears, Micrognathia, Microphthalmia, Macrotia, Kyphoscoliosis, Overlapping toe OMIM:600118
Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome
Kyphosis, Abnormality of the cervical spine, Micrognathia, Microphthalmia, Scoliosis, Camptodacty... ORPHA:48431
Distal Monosomy 17Q
Abnormal hip bone morphology, Abnormal thumb morphology, Abnormal form of the vertebral bodies, D... ORPHA:1597
Potocki-Shaffer Syndrome
Brachydactyly, 2-5 finger cutaneous syndactyly, Wormian bones, Micropenis, Turricephaly, Brachyce... OMIM:601224
Multinucleated Neurons, Anhydramnios, Renal Dysplasia, Cerebellar Hypoplasia, And Hydranencephaly
Brachydactyly, Renal cyst, Short neck, 2-3 toe syndactyly, Cutaneous syndactyly, Clinodactyly of ... OMIM:236500
Poland Syndrome
Aplasia/Hypoplasia of the sternum, Abnormality of the ulna, Missing ribs, Finger symphalangism, A... ORPHA:2911
Steinfeld Syndrome
Abnormality of the vertebral column, Missing ribs, Hypoplasia of the ulna, Phocomelia, Aplasia/Hy... OMIM:184705
Myelomeningocele, Low-set ears, Absent vertebra, Rhizomelia, Rocker bottom foot, Anencephaly, Hol... ORPHA:63259
Cat-Eye Syndrome
Microphthalmia, Abnormal rib morphology, Hip dysplasia, Hearing impairment ORPHA:195
Cerebrooculofacioskeletal Syndrome 4
Abnormality of the vertebral column, Camptodactyly of finger, Dislocated radial head, Rocker bott... OMIM:610758
Familial Calcium Pyrophosphate Deposition
Arthritis, Osteoarthritis, Joint dislocation, Chondrocalcinosis, Calcification of cartilage, Join... ORPHA:1416
Anophthalmia, Low-set ears, Anencephaly, Micrognathia, Low-set, posteriorly rotated ears, Microme... ORPHA:2189
Oculoauriculovertebral Spectrum With Radial Defects
Aplasia/Hypoplasia of the thumb, Conductive hearing impairment, Sensorineural hearing impairment,... ORPHA:2549
Branchiogenic Deafness Syndrome
Branchial cyst, Mixed hearing impairment, Underdeveloped tragus, Conductive hearing impairment, S... ORPHA:50815
Poland Syndrome
Short ribs, Unilateral brachydactyly, Sprengel anomaly, Unilateral oligodactyly, Hemivertebrae, R... OMIM:173800
Craniosynostosis, Herrmann-Opitz Type
Brachydactyly, Craniosynostosis, Finger syndactyly, Intrauterine growth retardation, Abnormality ... ORPHA:2145
Acromesomelic Dysplasia 2A
Acromesomelia, Hypoplasia of the ulna, Valgus hand deformity, Fibular hypoplasia, Short phalanx o... OMIM:200700
Intermediate Nemaline Myopathy
Respiratory failure, Abnormal thorax morphology, Low-set ears ORPHA:171433
Multiple Mitochondrial Dysfunctions Syndrome 1
Pulmonary arterial hypertension, Respiratory insufficiency, Respiratory failure OMIM:605711
Myhre Syndrome
Clinodactyly, Radial deviation of finger, Cone-shaped epiphysis, Hypoplastic iliac wing, Vertebra... OMIM:139210
Femoral-Facial Syndrome
Missing ribs, Micrognathia, Scoliosis, Hemivertebrae, Rib fusion, Short fifth metatarsal, Short t... OMIM:134780
Anterior Chamber Cleavage Disorder, Cerebellar Hypoplasia, Hypothyroidism, And Tracheal Stenosis
Short neck, Abnormal thorax morphology, Stenosis of the external auditory canal, Tracheal stenosi... OMIM:601427
Prune Belly Syndrome
Vertebral segmentation defect, Abnormality of the ureter, Renal insufficiency, Congenital hip dis... ORPHA:2970
Osteogenesis Imperfecta, Type Viii
Decreased calvarial ossification, Wormian bones, Kyphosis, Vertebral compression fracture, Short ... OMIM:610915
Spondyloepiphyseal Dysplasia Congenita
Micrognathia, Scoliosis, Genu valgum, Aplasia/hypoplasia involving bones of the extremities, Shor... ORPHA:94068
Martsolf Syndrome 1
Short palm, Tracheomalacia, Short metacarpal, Broad fingertip, Short phalanx of finger, Micrognat... OMIM:212720
Rhizomelic Chondrodysplasia Punctata, Type 2
Abnormality of pelvic girdle bone morphology, Rhizomelia, Micrognathia, Scoliosis, Short humerus,... OMIM:222765
Craniosynostosis-Anal Anomalies-Porokeratosis Syndrome
Plagiocephaly, Kyphosis, Short thorax, Coronal craniosynostosis, Aplastic clavicle, Parietal fora... ORPHA:85199
Microspherophakia-Metaphyseal Dysplasia
Irregular epiphyses, Spinal stenosis with reduced interpedicular distance, Flattened moderately d... OMIM:157151
Arthrogryposis Multiplex Congenita 6
Respiratory failure, Death in childhood, Adducted thumb, Neonatal death, Death in infancy OMIM:619334
Vacterl Association, X-Linked, With Or Without Hydrocephalus
Abnormality of the vertebral column, Enlarged kidney, Absent radius, Hydronephrosis, Tracheoesoph... OMIM:314390
Rhizomelic Chondrodysplasia Punctata, Type 5
Narrow iliac wing, Thoracic scoliosis, Metaphyseal irregularity, Irregular capital femoral epiphy... OMIM:616716
Otopalatodigital Syndrome, Type I
Prominent occiput, Sandal gap, Abnormality of the fifth metatarsal bone, Bulbous tips of toes, Sc... OMIM:311300
Micrognathia, Hypoplastic iliac wing, Scoliosis, Small hand, Narrow chest, Brachydactyly, Intraut... ORPHA:763
Lethal Congenital Contracture Syndrome Type 1
Abnormal hip bone morphology, Short neck, Abnormal form of the vertebral bodies, Micrognathia, Ab... ORPHA:1486
Orofaciodigital Syndrome Xi
Kyphoscoliosis, Hypoplasia of the odontoid process, Postaxial polydactyly OMIM:612913
Cantu Syndrome
Coxa valga, Short neck, Broad first metatarsal, Ovoid vertebral bodies, Short hallux, Broad hallu... OMIM:239850
Multiple Mitochondrial Dysfunctions Syndrome 2 With Hyperglycinemia
Death in infancy, Respiratory failure, Respiratory insufficiency OMIM:614299
Spondylocarpotarsal Synostosis Syndrome
Carpal synostosis, Block vertebrae, Clinodactyly of the 5th finger, Scoliosis, Vertebral fusion, ... OMIM:272460
Mucopolysaccharidosis, Type Vii
Recurrent otitis media, Anterior beaking of lumbar vertebrae, Proximal tapering of metacarpals, S... OMIM:253220
Mayer-Rokitansky-Küster-Hauser Syndrome Type 2
Renal agenesis, Ectopic kidney, Short neck, Abnormal rib morphology, Renal dysplasia, Vertebral s... ORPHA:2578
Frontometaphyseal Dysplasia 1
Long phalanx of finger, Increased density of long bone diaphyses, Hydronephrosis, Scoliosis, Scap... OMIM:305620
Multicentric Osteolysis, Nodulosis, And Arthropathy
Metatarsal osteolysis, Carpal osteolysis, Metacarpal osteolysis, Micrognathia, Protrusio acetabul... OMIM:259600
Van Maldergem Syndrome 2
Clinodactyly, Sacral dimple, Short 4th metacarpal, Micropenis, Renal hypoplasia, Short clavicles,... OMIM:615546
Combined Oxidative Phosphorylation Deficiency 28
Respiratory failure OMIM:616794
Brachyolmia Type 3
Clinodactyly, Short neck, Kyphosis, Short femoral neck, Proximal femoral metaphyseal irregularity... OMIM:113500
Microphthalmia, Isolated, With Coloboma 5
Microphthalmia, Bilateral microphthalmos, Holoprosencephaly, Anophthalmia OMIM:611638
Moebius Syndrome
Brachydactyly, Clinodactyly, Abnormality of pelvic girdle bone morphology, Short neck, Short phal... OMIM:157900
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 2
Advanced ossification of carpal bones, Carpal synostosis, Platyspondyly, Pectus excavatum, Flared... OMIM:615349
Schimke Immunoosseous Dysplasia
Thoracic kyphosis, Shallow acetabular fossae, Intrauterine growth retardation, Nephrotic syndrome... OMIM:242900
Spondyloepimetaphyseal Dysplasia, Faden-Alkuraya Type
Skull asymmetry, Short neck, Craniosynostosis, Short femoral neck, Short metacarpal, Proximal fem... OMIM:616723
Otopalatodigital Syndrome Type 2
Carpal synostosis, Hydronephrosis, Short thumb, Micrognathia, Abnormal rib morphology, Scoliosis,... ORPHA:90652
Becker Nevus Syndrome
Supernumerary ribs, Kyphosis, Pectus excavatum, Micromelia, Scoliosis, Abnormality of tibia morph... ORPHA:64755
Basal Cell Nevus Syndrome
Brachydactyly, Supernumerary ribs, Irregular ossification of hand bones, Short distal phalanx of ... OMIM:109400
Microcephalic Osteodysplastic Primordial Dwarfism, Type I
Prominent occiput, 11 pairs of ribs, Micrognathia, Micromelia, Large hands, Hip dislocation, Brac... OMIM:210710
Acrofacial Dysostosis, Rodríguez Type
Abnormality of pelvic girdle bone morphology, Finger syndactyly, Hand oligodactyly, Intrauterine ... ORPHA:1788
Muscular Dystrophy, Duchenne Type
Respiratory failure, Hyperlordosis, Respiratory insufficiency, Scoliosis, Hypoventilation OMIM:310200
Cdags Syndrome
Lambdoidal craniosynostosis, Kyphosis, Coronal craniosynostosis, Rectourethral fistula, Short rib... OMIM:603116
Growth Delay-Hydrocephaly-Lung Hypoplasia Syndrome
Bowing of the long bones, Tibial bowing, Abnormality of fibula morphology, Abnormal rib morpholog... ORPHA:3035
Achondrogenesis, Type Ii
Horizontal ribs, Absent vertebral body mineralization, Short ribs, Barrel-shaped chest, Hypoplast... OMIM:200610
Primary Ciliary Dyskinesia
Clubbing, Recurrent otitis media, Airway obstruction, Chronic rhinitis, Conductive hearing impair... ORPHA:244
Premature Aging Syndrome, Penttinen Type
Brachydactyly, Wormian bones, Delayed eruption of teeth, Micrognathia, Midface retrusion, Osteoly... OMIM:601812
Trisomy 20P
Abnormal hip bone morphology, Hydronephrosis, Micrognathia, Scoliosis, Spina bifida, Brachydactyl... ORPHA:261318
Campomelia, Cumming Type
Brachydactyly, Bowing of the long bones, Dolichocephaly, Abnormal thorax morphology, Abnormal rib... ORPHA:1318
Spondyloepimetaphyseal Dysplasia, Aggrecan Type
Brachydactyly, Irregular epiphyses, Short neck, Rhizomelia, Platyspondyly, Midface retrusion, Bar... OMIM:612813
Osteogenesis Imperfecta With Opalescent Teeth, Blue Sclerae And Wormian Bones, But Without Fractures
Platybasia, Wormian bones, Abnormal joint morphology, Biconcave flattened vertebrae OMIM:166230
Temtamy Syndrome
Brachydactyly, Genu varum, Low-set ears, Clinodactyly of the 5th finger, Micrognathia, Microphtha... ORPHA:1777
Scoliosis, Respiratory failure, Kyphosis ORPHA:79327
Wiedemann-Rautenstrauch Syndrome
Recurrent otitis media, Hypoplastic vertebral bodies, Atlantoaxial abnormality, Hip dysplasia, Ab... ORPHA:3455
Combined Oxidative Phosphorylation Deficiency 47
Toe syndactyly, Short neck, Short palm, Intrauterine growth retardation, Cone-shaped epiphyses of... OMIM:618958
Oculopharyngeal Myopathy With Leukoencephalopathy 1
Respiratory failure OMIM:618637
Brachydactyly, Congenital conductive hearing impairment, Hypoplastic frontal sinuses, Basal encep... ORPHA:391474
Mmep Syndrome
Microphthalmia, Triphalangeal thumb, Split foot ORPHA:3434
Van Maldergem Syndrome 1
Clinodactyly, Sacral dimple, Short 4th metacarpal, Renal hypoplasia, Short clavicles, Micrognathi... OMIM:601390
Ciliary Dyskinesia, Primary, 5
Recurrent otitis media, Respiratory insufficiency due to defective ciliary clearance, Recurrent p... OMIM:608647
Microphthalmia, Isolated, With Coloboma 6
Bilateral microphthalmos, Optic disc hypoplasia, Hypoplasia of the fovea OMIM:613703
Schwartz-Jampel Syndrome, Type 1
Coronal cleft vertebrae, Coxa valga, Short neck, Joint contracture of the hand, Congenital hip di... OMIM:255800
Oculogastrointestinal Neurodevelopmental Syndrome
Simple ear, Sacral dimple, Bilateral microphthalmos, Hemivertebrae, Unilateral microphthalmos OMIM:619318
Brachydactyly, Coloboma, And Anterior Segment Dysgenesis
Brachydactyly, Clinodactyly, Microphthalmia, Hearing impairment, Syndactyly OMIM:610023
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly
Horizontal ribs, Fibular hypoplasia, Metaphyseal spurs, Cone-shaped epiphysis, Polycystic kidney ... OMIM:613091
Hajdu-Cheney Syndrome
Brachydactyly, Bowing of the long bones, Hydrocephalus, Short neck, Kyphosis, Low-set ears, Micro... ORPHA:955
Alagille Syndrome
Hypoplasia of the ulna, Abnormality of the ureter, Intrauterine growth retardation, Nephrotic syn... ORPHA:52
Tracheobronchopathia Osteochondroplastica
Recurrent pneumonia, Pneumonia, Calcification of cartilage, Atelectasis, Productive cough, Exerti... ORPHA:3348
Microphthalmia With Limb Anomalies
Abnormal thumb morphology, Fibular hypoplasia, Sandal gap, Clinodactyly of the 5th finger, Microg... ORPHA:1106
Intellectual Disability-Myopathy-Short Stature-Endocrine Defect Syndrome
Abnormal hip bone morphology, Craniofacial hyperostosis, Clinodactyly of the 5th finger, Tracheoe... ORPHA:3068
Myopathy, Centronuclear, X-Linked
Respiratory failure requiring assisted ventilation, Respiratory failure, Arachnodactyly, Hydrocep... OMIM:310400
Yunis-Varon Syndrome
Absent sternal ossification, Abnormal pelvis bone morphology, Aplasia/Hypoplasia of the clavicles... ORPHA:3472
Osteogenesis Imperfecta, Type X
Bowing of the long bones, Nephrolithiasis, Vertebral compression fracture, Thin ribs, Platyspondy... OMIM:613848
Achondrogenesis Type 1B
Short neck, Short thorax, Abnormal rib morphology, Micrognathia, Micromelia, Frontal bossing, Tal... ORPHA:93298
Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans
Kyphosis, Rhizomelia, Platyspondyly, Midface retrusion, Lumbar hyperlordosis, Frontal bossing, Hy... OMIM:616482
Short Stature-Wormian Bones-Dextrocar