Gene Summary

Name:
solute carrier family 35 (UDP-N-acetylglucosamine (UDP-GlcNAc) transporter), member 3
Synonyms:
2310050P13Rik

IMPC Data Collections

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.

Phenotype System Allele Zyg Sex Life Stage P Value
abnormal tail morphology Slc35a3em1(IMPC)Bay HOM E18.5 0.00
abnormal embryo size Slc35a3em1(IMPC)Bay HOM E18.5 0.00
abnormal body wall morphology Slc35a3em1(IMPC)Bay HOM E18.5 0.00
preweaning lethality, complete penetrance Slc35a3em1(IMPC)Bay HOM   Early adult 0.00
protruding tongue Slc35a3em1(IMPC)Bay HOM E18.5 0.00
abnormal locomotor behavior Slc35a3em1(IMPC)Bay HET Early adult 7.56×10-05

Download data as:  TSV  XLS

Select physiological systems to view:
Viewing: all phenotypes
Select physiological systems to view:
Viewing: all phenotypes

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.

Eye Morphology

VIP of right eye

15 Images

Eye Morphology

VIP of left eye

15 Images

Eye Morphology

VIP of left fundus

15 Images

Eye Morphology

VIP of right fundus

15 Images

Human diseases caused by Slc35a3 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 Slc35a3 by orthology or direct annotation.

Disease Similarity of
phenotypes
Matching phenotypes Source
Autism Spectrum Disorder-Epilepsy-Arthrogryposis Syndrome
Hip dislocation, Knee dislocation, Hip dysplasia, Scoliosis, Hammertoe ORPHA:370943
Arthrogryposis, Impaired Intellectual Development, And Seizures
Knee dislocation, Camptodactyly of finger, Acetabular dysplasia, Microcephaly, Scoliosis, Arthrog... OMIM:615553

The table below shows human diseases predicted to be associated to Slc35a3 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Radioulnar Synostosis-Microcephaly-Scoliosis Syndrome
Pectus carinatum, Finger syndactyly, Delayed skeletal maturation, Radioulnar synostosis, Microcep... ORPHA:3268
Spondylometaphyseal Dysplasia, Type A4
Platyspondyly, Pectus carinatum, Irregular patellae, Hypoplasia of the capital femoral epiphysis,... OMIM:609052
Heart Defects-Limb Shortening Syndrome
Narrow chest, Abnormal form of the vertebral bodies, Death in infancy, Accelerated skeletal matur... ORPHA:1354
Poirier-Bienvenu Neurodevelopmental Syndrome
Smooth philtrum, Protruding tongue, Open mouth, Downturned corners of mouth OMIM:618732
Spondylometaphyseal Dysplasia, Corner Fracture Type
Pectus carinatum, Hypoplasia of the odontoid process, Short femoral neck, Corner fracture of meta... OMIM:184255
Metatropic Dysplasia
Epiphyseal dysplasia, Hypoplasia of the odontoid process, Caudal appendage, Genu valgum, Flat ace... OMIM:156530
Brachyolmia Type 1, Hobaek Type
Platyspondyly, Osteopenia, Pectus carinatum, Short iliac bones, Flattened proximal radial epiphys... OMIM:271530
Diaphanospondylodysostosis
Enlarged thorax, Absent or minimally ossified vertebral bodies, Missing ribs, Short neck, Short t... ORPHA:66637
Spondylocostal Dysostosis 1, Autosomal Recessive
Block vertebrae, Abnormal odontoid process morphology, Death in infancy, Vertebral segmentation d... OMIM:277300
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 3
Death in infancy, Vertebral segmentation defect, Short long bone, Short thorax, Vertebral fusion,... OMIM:618845
Metaphyseal Chondrodysplasia, Schmid Type
Abnormal vertebral morphology, Radial metaphyseal irregularity, Anterior rib cupping, Genu varum,... ORPHA:174
Neurogenic Thoracic Outlet Syndrome
Abnormal rib morphology ORPHA:100073
Kyphomelic Dysplasia
Narrow chest, Limitation of joint mobility, Abnormal form of the vertebral bodies, Joint stiffnes... ORPHA:1801
Spondylocostal Dysostosis 5
Pectus carinatum, Butterfly vertebrae, Missing ribs, Low back pain, Short neck, Supernumerary rib... OMIM:122600
Pseudoachondroplasia
Delayed epiphyseal ossification, Hypoplasia of the odontoid process, Genu valgum, Wind-swept defo... ORPHA:750
Short-Rib Thoracic Dysplasia 17 With Or Without Polydactyly
Narrow chest, Postaxial foot polydactyly, Acetabular spurs, Horizontal ribs, Death in infancy, Sh... OMIM:617405
Basal Cell Nevus Syndrome 1
Short distal phalanx of the thumb, Vertebral wedging, Abnormal sternum morphology, Macrocephaly, ... OMIM:109400
Endosteal Hyperostosis, Worth Type
Sclerotic vertebral body, Abnormal form of the vertebral bodies, Generalized osteosclerosis, Clav... ORPHA:2790
Spondylocostal Dysostosis 3, Autosomal Recessive
Slender finger, Hypoplasia of the odontoid process, Contracture of the proximal interphalangeal j... OMIM:609813
Cerebrofaciothoracic Dysplasia
Narrow chest, Macrocephaly, Vertebral segmentation defect, Rib fusion, Short neck, Sprengel anoma... ORPHA:1394
Hypo- And Hypermelanotic Cutaneous Macules-Retarded Growth-Intellectual Disability Syndrome
Microcephaly, Abnormal rib morphology ORPHA:2435
Gorlin Syndrome
Abnormal vertebral morphology, Vertebral wedging, Macrocephaly, Arachnodactyly, Rib fusion, Brach... ORPHA:377
Metaphyseal Dysplasia Without Hypotrichosis
Abnormal pelvic girdle bone morphology, Metaphyseal cupping of metacarpals, Abnormality of the ve... OMIM:250460
Spondyloepimetaphyseal Dysplasia, Borochowitz-Cormier-Daire Type
Platyspondyly, Metaphyseal spurs, Posterior rib cupping, Thoracic hypoplasia, Irregular epiphyses... OMIM:608728
Autosomal Dominant Spondylocostal Dysostosis
Short thorax, Macrocephaly, Vertebral segmentation defect, Missing ribs, Microcephaly, Short neck... ORPHA:1797
Acromesomelic Dysplasia, Maroteaux Type
Abnormal form of the vertebral bodies, Vertebral wedging, Joint stiffness, Joint hypermobility, B... ORPHA:40
Spondyloepimetaphyseal Dysplasia, Irapa Type
Platyspondyly, Pectus carinatum, Synostosis of carpal bones, Abnormal epiphysis morphology, Limit... ORPHA:93351
Mesomelic Dysplasia, Kantaputra Type
Ulnar deviation of finger, Abnormality of the ankle, Synostosis of carpal bones, Camptodactyly of... ORPHA:1836
Metatropic Dysplasia
Narrow chest, Scoliosis, Coarse metaphyseal trabecularization, Hypoplastic cervical vertebrae, Ab... ORPHA:2635
Spondylomegaepiphyseal Dysplasia With Upper Limb Mesomelia, Punctate Calcifications, And Deafness
Platyspondyly, Hypoplastic iliac wing, Enlarged epiphyses of the phalanges of the hand, Lumbar hy... OMIM:609616
Kniest Dysplasia
Delayed epiphyseal ossification, Enlarged metaphyses, Hypoplasia of the odontoid process, Abnorma... ORPHA:485
Brachydactyly, Type B1
Joint contracture of the hand, Broad thumb, Hypoplastic sacrum, Delayed cranial suture closure, C... OMIM:113000
Acrocapitofemoral Dysplasia
Pectus carinatum, Cone-shaped metacarpal epiphyses, Cone-shaped epiphysis, Abnormal femoral neck ... ORPHA:63446
Isolated Klippel-Feil Syndrome
Abnormality of the vertebral column, Abnormal shoulder morphology, Cervical C2/C3 vertebral fusio... ORPHA:2345
Pseudoachondroplasia
Delayed epiphyseal ossification, Atlantoaxial dislocation, Hypoplasia of the odontoid process, Ra... OMIM:177170
Craniodiaphyseal Dysplasia
Macrocephaly, Diaphyseal undertubulation, Abnormal rib morphology ORPHA:1513
Thoracolaryngopelvic Dysplasia
Hypoplastic iliac wing, Hypoplastic pelvis, Bell-shaped thorax, Horizontal ribs, Short ribs, Meta... OMIM:187760
Spondyloepimetaphyseal Dysplasia, Isidor-Toutain Type
Enlarged metaphyses, Platyspondyly, Lower-limb metaphyseal irregularity, Irregular femoral epiphy... OMIM:618728
Spondyloepimetaphyseal Dysplasia, Irapa Type
Platyspondyly, Pectus carinatum, Broad femoral neck, Hypoplastic sacrum, Upper limb undergrowth, ... OMIM:271650
Microcephaly-Cervical Spine Fusion Anomalies Syndrome
Abnormal clavicle morphology, Abnormal hip bone morphology, Microcephaly, Short neck, Hyperlordos... ORPHA:2522
Thin Ribs-Tubular Bones-Dysmorphism Syndrome
Macrocephaly, Abnormal pelvic girdle bone morphology, Slender long bone, Abnormal rib morphology ORPHA:1506
Fibrochondrogenesis 2
Platyspondyly, Hypoplastic ilia, Metaphyseal cupping, Thoracic hypoplasia, Bell-shaped thorax, Sh... OMIM:614524
Pierre Robin Syndrome
Glossoptosis, Cleft palate, Pierre-Robin sequence OMIM:261800
Autosomal Dominant Brachyolmia
Platyspondyly, Increased vertebral height, Kyphoscoliosis, Short thorax, Abnormal metaphysis morp... ORPHA:93304
Spondylo-Megaepiphyseal-Metaphyseal Dysplasia
Long hallux, Hypoplastic iliac wing, Genu valgum, Delayed pubic bone ossification, Short neck, Me... OMIM:613330
Acropectorovertebral Dysplasia
Abnormal vertebral morphology, Broad thumb, Toe syndactyly, Short thumb, Synostosis of carpal bon... OMIM:102510
Stuve-Wiedemann Syndrome 2
Thoracic hypoplasia, Neonatal death, Bowing of the long bones, Death in adolescence, Short long b... OMIM:619751
Spondylometaphyseal Dysplasia, A4 Type
Platyspondyly, Limitation of joint mobility, Flared, irregular rib ends, Coxa vara, Short palm ORPHA:168555
Multiple Epiphyseal Dysplasia, Al-Gazali Type
Delayed epiphyseal ossification, Abnormal vertebral morphology, Clinodactyly, Macrocephaly, Genu ... ORPHA:166024
Sprengel Deformity
Rib segmentation abnormalities, Sprengel anomaly, Hemivertebrae, Spina bifida occulta, Cervical s... OMIM:184400
Odontochondrodysplasia 1
Flat acetabular roof, Cone-shaped epiphyses of the phalanges of the hand, Genu varum, Short metac... OMIM:184260
Epiphyseal Dysplasia, Multiple, 6
Arthralgia of the hip, Schmorl's node, Irregular epiphyses, Small epiphyses, Flat distal femoral ... OMIM:614135
Diastrophic Dysplasia
Ulnar deviation of finger, Cervical kyphosis, Hypoplastic cervical vertebrae, Short finger, Irreg... OMIM:222600
Spondylometaphyseal Dysplasia With Corneal Dystrophy
Narrow chest, Lumbar platyspondyly, Coarse metaphyseal trabecularization, Thoracic platyspondyly,... OMIM:618961
Diastrophic Dysplasia
Hypoplastic cervical vertebrae, Elbow dislocation, Bowing of the long bones, Abnormal metacarpal ... ORPHA:628
Craniofacial Dysmorphism, Skeletal Anomalies, And Impaired Intellectual Development Syndrome 1
Narrow chest, Macrocephaly, Overlapping toe, Joint hypermobility, Rib fusion, Microcephaly, Short... OMIM:213980
Microcephaly With Cervical Spine Fusion Anomalies
Spinal instability, Microcephaly, Vertebral fusion OMIM:251250
Schneckenbecken Dysplasia
Platyspondyly, Hypoplastic scapulae, Narrow chest, Stillbirth, Thoracic hypoplasia, Macrocephaly,... OMIM:269250
Spondyloepimetaphyseal Dysplasia, Missouri Type
Pear-shaped vertebrae, Platyspondyly, Metaphyseal cupping, Radial bowing, Flared metaphysis, Irre... OMIM:602111
Dyggve-Melchior-Clausen Disease
Epiphyseal dysplasia, Hypoplasia of the odontoid process, Genu valgum, Short neck, Beaking of ver... ORPHA:239
Mucopolysaccharidosis Type 4
Platyspondyly, Pectus carinatum, Abnormal epiphysis morphology, Joint dislocation, Delayed skelet... ORPHA:582
Osteogenesis Imperfecta, Type Ix
Platyspondyly, Pectus carinatum, Recurrent fractures, Bowing of limbs due to multiple fractures, ... OMIM:259440
Platyspondylic Lethal Skeletal Dysplasia, Torrance Type
Thin ribs, Radial bowing, Short neck, Flat acetabular roof, Hypoplastic ischia, Ovoid vertebral b... OMIM:151210
Spondylocostal Dysostosis 2, Autosomal Recessive
Vertebral segmentation defect, Rib fusion, Short neck, Vertebral clefting, Hemivertebrae OMIM:608681
Multiple Epiphyseal Dysplasia Type 1
Delayed epiphyseal ossification, Arthralgia of the hip, Limitation of joint mobility, Ankle pain,... ORPHA:93308
9q subtelomeric deletion syndrome
Protruding tongue DECIPHER:52
Spondylocostal Dysostosis 4, Autosomal Recessive
Block vertebrae, Abnormal odontoid process morphology, Bell-shaped thorax, Vertebral segmentation... OMIM:613686
Isolated Pierre Robin Syndrome
Glossoptosis, Cleft palate ORPHA:718
Jeune Syndrome
Abnormal pelvic girdle bone morphology, Toe syndactyly, Postaxial foot polydactyly, Cone-shaped e... ORPHA:474
Aicardi Syndrome
Small hand, Block vertebrae, Butterfly vertebrae, Missing ribs, Supernumerary ribs, Rib fusion, M... ORPHA:50
Spondylometaphyseal Dysplasia, Kozlowski Type
Hypoplasia of the odontoid process, Carpal bone hypoplasia, Short neck, Irregular capital femoral... OMIM:184252
Spondylometaphyseal Dysplasia, Axial
Platyspondyly, Narrow chest, Thoracic hypoplasia, Proximal femoral metaphyseal irregularity, Narr... OMIM:602271
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 3
Thin ribs, Platyspondyly, Multiple joint dislocation, Short femoral neck, Knee dislocation, Joint... OMIM:618395
Spondyloepiphyseal Dysplasia Tarda, Kohn Type
Platyspondyly, Abnormal ilium morphology, Abnormal vertebral morphology, Abnormality of the ankle... ORPHA:163665
Axial Spondylometaphyseal Dysplasia
Abnormal ilium morphology, Hypoplastic iliac wing, Abnormal metacarpal morphology, Flat acetabula... ORPHA:168549
Short-Rib Thoracic Dysplasia 11 With Or Without Polydactyly
Narrow chest, Thoracic dysplasia, Bell-shaped thorax, Horizontal ribs, Postaxial polydactyly, Bra... OMIM:615633
X-Linked Skeletal Dysplasia-Intellectual Disability Syndrome
Thoracic hemivertebrae, Brachydactyly, Abnormal sacrum morphology, Scoliosis, Short middle phalan... ORPHA:1436
Contractures, Pterygia, And Spondylocarpotarsal Fusion Syndrome 1A
Carpal synostosis, Cutaneous finger syndactyly, Hip contracture, Barrel-shaped chest, Short neck,... OMIM:178110
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome
Platyspondyly, Narrow chest, Abnormal epiphysis morphology, Abnormal clavicle morphology, Abnorma... ORPHA:93267
Melkersson-Rosenthal Syndrome
Furrowed tongue OMIM:155900
Spondylometaphyseal Dysplasia, 'Corner Fracture' Type
Abnormal vertebral morphology, Limitation of joint mobility, Clinodactyly, Hypoplastic iliac wing... ORPHA:93315
Thanatophoric Dysplasia, Type I
Small abnormally formed scapulae, Hypoplastic ilia, Platyspondyly, Narrow chest, Thoracic hypopla... OMIM:187600
Spondyloepimetaphyseal Dysplasia, Strudwick Type
Platyspondyly, Pectus carinatum, Hypoplasia of the odontoid process, Scoliosis, Clinodactyly, Gen... OMIM:184250
Posterior Fusion Of Lumbosacral Vertebrae-Blepharoptosis Syndrome
Abnormal form of the vertebral bodies, Joint stiffness, Posterior fusion of lumbosacral vertebrae... ORPHA:2064
Atelosteogenesis, Type Ii
Platyspondyly, Abnormal pelvic girdle bone morphology, Cervical kyphosis, Dumbbell-shaped femur, ... OMIM:256050
Ring Chromosome 21 Syndrome
Small hand, Clinodactyly, Thoracic hemivertebrae, Abnormal thorax morphology, Microcephaly, Fused... ORPHA:1445
Mucopolysaccharidosis, Type Iva
Constricted iliac wing, Hypoplasia of the odontoid process, Genu valgum, Short neck, Anterior bea... OMIM:253000
Thanatophoric Dysplasia, Type Ii
Small abnormally formed scapulae, Hypoplastic ilia, Platyspondyly, Narrow chest, Flared metaphysi... OMIM:187601
Juberg-Hayward Syndrome
Abnormal vertebral morphology, Toe syndactyly, Short thumb, Abnormality of the wrist, Radioulnar ... ORPHA:2319
Kbg Syndrome
Persistent open anterior fontanelle, Delayed skeletal maturation, Finger clinodactyly, Cervical r... ORPHA:2332
Atelosteogenesis, Type I
Radial bowing, Elbow dislocation, Fibular aplasia, Bell-shaped thorax, Neonatal death, Short neck... OMIM:108720
Aicardi Syndrome
Block vertebrae, Butterfly vertebrae, Missing ribs, Supernumerary ribs, Rib fusion, Microcephaly,... OMIM:304050
Multiple Synostoses Syndrome 2
Carpal synostosis, Humeroradial synostosis, Finger symphalangism, Brachydactyly, Proximal symphal... OMIM:610017
Holt-Oram Syndrome
Broad thumb, Aplasia/Hypoplasia of the radius, Finger syndactyly, Absent thumb, Kyphosis, Abnorma... ORPHA:392
Klippel-Feil Syndrome 1, Autosomal Dominant
Cervical C2/C3 vertebral fusion, Short neck, Sprengel anomaly, Abnormal limb bone morphology, Abn... OMIM:118100
Short Stature, Amelogenesis Imperfecta, And Skeletal Dysplasia With Scoliosis
Scoliosis, Thoracic hypoplasia, Short thorax, Knee dislocation, Small epiphyses, Genu valgum, Hip... OMIM:618363
Hypochondroplasia
Flared metaphysis, Macrocephaly, Lumbar hyperlordosis, Trident hand, Limited elbow extension, Bra... OMIM:146000
Intellectual Disability-Facial Dysmorphism-Hand Anomalies Syndrome
Short distal phalanx of finger, Broad thumb, Short distal phalanx of the thumb, Short 3rd metacar... ORPHA:370010
Craniodiaphyseal Dysplasia, Autosomal Dominant
Craniofacial osteosclerosis, Cortical sclerosis, Diaphyseal sclerosis, Death in adolescence, Macr... OMIM:122860
Spondylometaphyseal Dysplasia, Algerian Type
Platyspondyly, Hypoplasia of proximal radius, Short tubular bones of the hand, Flared femoral met... OMIM:184253
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia
Thin ribs, Platyspondyly, Metaphyseal cupping of metacarpals, Metaphyseal cupping, Hypoplastic il... OMIM:300863
Pierre Robin Sequence With Facial And Digital Anomalies
Glossoptosis, Cleft palate, Pierre-Robin sequence OMIM:311895
Spondyloepiphyseal Dysplasia Tarda
Enlarged metaphyses, Finger swelling, Hypoplasia of the odontoid process, Limitation of joint mob... ORPHA:93284
Progressive Pseudorheumatoid Arthropathy Of Childhood
Abnormal ilium morphology, Joint contracture of the hand, Limitation of joint mobility, Genu valg... ORPHA:1159
Lethal Kniest-Like Dysplasia
Platyspondyly, Hypoplastic ilia, Narrow chest, Flared metaphysis, Broad long bones, Abnormal cart... ORPHA:2347
Lethal Congenital Contracture Syndrome Type 1
Limitation of joint mobility, Abnormal form of the vertebral bodies, Slender long bone, Abnormal ... ORPHA:1486
Poland Syndrome
Short ribs, Unilateral oligodactyly, Rib fusion, Sprengel anomaly, Hemivertebrae, Unilateral brac... OMIM:173800
Klippel-Feil Syndrome 3, Autosomal Dominant
Cervical C5/C6 vertebrae fusion, Cervical C3/C4 vertebral fusion, Thoracic scoliosis OMIM:613702
Hypochondroplasia
Abnormal pelvic girdle bone morphology, Short toe, Abnormal form of the vertebral bodies, Spinal ... ORPHA:429
Dysspondyloenchondromatosis
Platyspondyly, Anisospondyly, Joint dislocation, Multiple enchondromatosis, Delayed skeletal matu... ORPHA:85198
Intellectual Developmental Disorder, Autosomal Dominant 58
Dental crowding, Protruding tongue, Submucous cleft hard palate, Inguinal hernia, Thick vermilion... OMIM:618106
Thoracomelic Dysplasia
Abnormal pelvic girdle bone morphology, Narrow chest, Elbow dislocation, Genu valgum, Bell-shaped... ORPHA:1803
Acrocapitofemoral Dysplasia
Short tibia, Radial bowing, Hypoplastic iliac wing, Dysplasia of the femoral head, Cone-shaped ep... OMIM:607778
Spondyloepimetaphyseal Dysplasia, Shohat Type
Delayed epiphyseal ossification, Abnormal vertebral morphology, Premature osteoarthritis, Squared... ORPHA:93352
Microcephalic Primordial Dwarfism, Toriello Type
Abnormal epiphysis morphology, Delayed skeletal maturation, Microcephaly, Brachydactyly, Abnormal... ORPHA:2643
Achondrogenesis Type 2
Hypoplastic ilia, Narrow chest, Unossified sacrum, Absent vertebral body mineralization, Delayed ... ORPHA:93296
Dyggve-Melchior-Clausen Disease
Hypoplastic scapulae, Hypoplasia of the odontoid process, Limitation of joint mobility, Hypoplast... OMIM:223800
Grant Syndrome
Abnormality of the glenoid fossa, Abnormal pelvic girdle bone morphology, Narrow chest, Joint dis... ORPHA:2097
Metaphyseal Dysostosis, Impaired Intellectual Development, And Conductive Deafness
Genu valgum, Carpal bone hypoplasia, Broad phalanx, Metaphyseal dysplasia, Short foot, Genu varum... OMIM:250420
Developmental And Speech Delay Due To Sox5 Deficiency
Pectus carinatum, Lumbar hyperlordosis, Butterfly vertebrae, 2-3 toe syndactyly, Vertebral fusion... ORPHA:313892
Otopalatodigital Syndrome Type 1
Short distal phalanx of finger, Synostosis of carpal bones, Short thumb, Sandal gap, Limitation o... ORPHA:90650
Thrombocytopenia-Absent Radius Syndrome
Broad thumb, Finger syndactyly, Tibial torsion, Cervical ribs, Fibular aplasia, Aplasia/hypoplasi... ORPHA:3320
Growth Retardation, Developmental Delay, And Facial Dysmorphism
Bifid uvula, Umbilical hernia, Intrauterine growth retardation, Protruding tongue, Alveolar ridge... OMIM:612938
Fibrochondrogenesis 1
Thin ribs, Hypoplastic scapulae, Small hand, Joint contracture of the hand, Broad long bones, Sho... OMIM:228520
Smith-Mccort Dysplasia 1
Hypoplastic scapulae, Hypoplasia of the odontoid process, Limitation of joint mobility, Genu valg... OMIM:607326
Klippel-Feil Syndrome 2, Autosomal Recessive
Cervical C2/C3 vertebral fusion, Short neck, Sprengel anomaly, Scoliosis, Fused cervical vertebrae OMIM:214300
Spondylometaphyseal Dysplasia, Kozlowski Type
Delayed epiphyseal ossification, Abnormal ilium morphology, Hypoplasia of the odontoid process, R... ORPHA:93314
Contractures, Pterygia, And Spondylocarpotarsal Fusion Syndrome 1B
Scoliosis, Short neck, Fused thoracic vertebrae, Antecubital pterygium, Tarsal synostosis, Absent... OMIM:618469
Rhizomelic Skeletal Dysplasia With Or Without Pelger-Huet Anomaly
Radial bowing, Genu valgum, Thoracolumbar scoliosis, Metaphyseal dysplasia, Ovoid vertebral bodie... OMIM:618019
Acrocephalopolydactyly
Genu recurvatum, Thoracic hypoplasia, Short neck, Brachydactyly, Short long bone ORPHA:221054
Chondrodysplasia, Blomstrand Type
Abnormal vertebral morphology, Narrow chest, Stillbirth, Flared metaphysis, Short ribs, Generaliz... OMIM:215045
Acromicric Dysplasia
Cone-shaped epiphysis, Fifth metacarpal with ulnar notch, Delayed skeletal maturation, Ovoid vert... OMIM:102370
Pierre Robin Sequence With Pectus Excavatum And Rib And Scapular Anomalies
Pectus excavatum, Abnormal rib morphology, Hypoplastic distal segments of scapulae, Joint hypermo... OMIM:602196
Autosomal Recessive Spondylocostal Dysostosis
Finger syndactyly, Abnormal form of the vertebral bodies, Camptodactyly of finger, Short thorax, ... ORPHA:2311
Multiple Pterygium Syndrome, X-Linked
Thin ribs, Joint dislocation, Short finger, Increased susceptibility to fractures, Multiple ptery... OMIM:312150
Femoral-Facial Syndrome
Aplasia/Hypoplasia of the tibia, Abnormal pelvic girdle bone morphology, Abnormal sacrum morpholo... ORPHA:1988
Achondroplasia
Thoracolumbar kyphosis, Hip joint hypermobility, Kyphosis, Thoracic hypoplasia, Cervical spinal c... ORPHA:15
Lamb-Shaffer Syndrome
Microcephaly, Decreased head circumference, Fused cervical vertebrae, Hip dysplasia, Scoliosis, T... ORPHA:530983
Osteogenesis Imperfecta, Type Ii
Thin ribs, Platyspondyly, Abnormal pelvic girdle bone morphology, Thoracic hypoplasia, Broad long... OMIM:166210
Christian Syndrome
Thoracic hemivertebrae, Prominent metopic ridge, Scoliosis, Short middle phalanx of finger, Fused... OMIM:309620
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type
Delayed epiphyseal ossification, Metaphyseal cupping, Narrow chest, Delayed skeletal maturation, ... OMIM:613320
White Forelock With Malformations
Finger syndactyly, Delayed skeletal maturation, Clinodactyly of the 5th finger, Joint hypermobili... ORPHA:2475
Hydrocephalus-Costovertebral Dysplasia-Sprengel Anomaly Syndrome
Abnormal form of the vertebral bodies, Sandal gap, Macrocephaly, Sprengel anomaly, Brachydactyly,... ORPHA:2180
Craniometadiaphyseal Dysplasia, Wormian Bone Type
Osteopenia, Broad femoral neck, Abnormal diaphysis morphology, Overtubulated long bones, Short tu... ORPHA:85184
Kuskokwim Syndrome
Aplasia/Hypoplasia of the radius, Abnormal clavicle morphology, Abnormal form of the vertebral bo... ORPHA:1149
Spondyloepiphyseal Dysplasia Congenita
Dysplasia of the femoral head, Genu valgum, Barrel-shaped chest, Limited elbow movement, Short ne... ORPHA:94068
Hypogonadism, Male, With Impaired Intellectual Development And Skeletal Anomalies
Abnormality of the cervical spine, Superior rib anomalies OMIM:307500
Acrocallosal Syndrome
Everted upper lip vermilion, Open mouth, Narrow mouth, Protruding tongue, Alveolar process hypopl... OMIM:200990
Achondrogenesis, Type Ii
Broad long bones, Short tubular bones of the hand, Hypoplastic iliac wing, Absent vertebral body ... OMIM:200610
Multiple Pterygium Syndrome, Lethal Type
Thin ribs, Joint dislocation, Short finger, Increased susceptibility to fractures, Multiple ptery... OMIM:253290
Spondyloepiphyseal Dysplasia Tarda, X-Linked
Platyspondyly, Hip osteoarthritis, Hump-shaped mound of bone in central and posterior portions of... OMIM:313400
3M Syndrome
Thin ribs, Short neck, Hypoplastic ischia, Abnormality of the elbow, Delayed skeletal maturation,... ORPHA:2616
Spondyloepimetaphyseal Dysplasia, X-Linked, With Hypomyelinating Leukodystrophy
Thin ribs, Hypoplasia of the odontoid process, Short neck, Anterior rib cupping, Flattened epiphy... OMIM:300232
Frontometaphyseal Dysplasia 1
Broad phalanges of the hand, Partial fusion of carpals, Carpal synostosis, Genu valgum, Limited e... OMIM:305620
Spondyloepiphyseal Dysplasia, Maroteaux Type
Platyspondyly, Pectus carinatum, Atlantoaxial instability, Genu valgum, Kyphoscoliosis, Short nec... OMIM:184095
Achondrogenesis Type 1B
Narrow chest, Abnormal enchondral ossification, Abnormal rib morphology, Macrocephaly, Short neck... ORPHA:93298
Mucopolysaccharidosis, Type Ivb
Constricted iliac wing, Hypoplasia of the odontoid process, Genu valgum, Ovoid vertebral bodies, ... OMIM:253010
Osteogenesis Imperfecta, Type Iii
Thin ribs, Kyphosis, Slender long bone, Protrusio acetabuli, Bowing of limbs due to multiple frac... OMIM:259420
Chondrodysplasia Punctata, Tibia-Metacarpal Type
Short 3rd metacarpal, Short tibia, Epiphyseal stippling, Short 4th metacarpal, Short long bone, S... OMIM:118651
Becker Nevus Syndrome
Pectus carinatum, Abnormal tibia morphology, Rib fusion, Supernumerary ribs, Pectus excavatum, Sp... ORPHA:64755
Keratoconus Posticus Circumscriptus
Limited elbow extension and supination, Short neck, Brachydactyly, Clinodactyly of the 5th finger... OMIM:244600
Vertebral Fusion, Posterior Lumbosacral, With Blepharoptosis
Posterior fusion of lumbosacral vertebrae OMIM:192800
Short-Rib Thoracic Dysplasia 4 With Or Without Polydactyly
Narrow chest, Polydactyly, Brachydactyly, Short long bone, Scoliosis OMIM:613819
Intellectual Disability-Polydactyly-Uncombable Hair Syndrome
Aplasia/Hypoplasia of fingers, Pectus carinatum, Toe syndactyly, Abnormal epiphysis morphology, A... ORPHA:3082
Spondylocarpotarsal Synostosis Syndrome
Epiphyseal dysplasia, Hypoplasia of the odontoid process, Carpal synostosis, C2-C3 subluxation, S... OMIM:272460
Cole-Carpenter Syndrome
Kyphosis, Abnormal form of the vertebral bodies, Joint hypermobility, Bowing of the long bones, W... ORPHA:2050
Autosomal Recessive Kenny-Caffey Syndrome
Thin ribs, Small hand, Delayed skeletal maturation, Delayed cranial suture closure, Decreased sku... ORPHA:93324
Fibrochondrogenesis
Hypoplastic scapulae, Narrow chest, Abnormal form of the vertebral bodies, Abnormal diaphysis mor... ORPHA:2021
Melnick-Needles Syndrome
Short distal phalanx of finger, Hip dislocation, Anisospondyly, Narrow chest, Short thorax, Delay... ORPHA:2484
Mucopolysaccharidosis, Type X
Platyspondyly, Broad clavicles, Irregular acetabular roof, Broad ribs, Genu valgum, Spatulate rib... OMIM:619698
Ophthalmoplegia, Progressive, With Scrotal Tongue And Mental Deficiency
Furrowed tongue OMIM:165150
Myotonia With Skeletal Abnormalities And Impaired Intellectual Development
Pectus carinatum, Vertebral wedging, Irregular femoral epiphysis, Genu valgum, Bell-shaped thorax... OMIM:255710
Fibrodysplasia Ossificans Progressiva
Broad femoral neck, Short 1st metacarpal, Small cervical vertebral bodies, Ectopic ossification i... OMIM:135100
Desbuquois Dysplasia 2
Epiphyseal dysplasia, Broad thumb, Short neck, Radial head subluxation, Advanced ossification of ... OMIM:615777
Juvenile Sialidosis Type 2
Inguinal hernia, Gingival overgrowth, Protruding tongue, Umbilical hernia ORPHA:93399
Angelman Syndrome Due To Paternal Uniparental Disomy Of Chromosome 15
Wide mouth, Protruding tongue, Widely spaced teeth ORPHA:98795
Ophthalmoplegia, External, With Rib And Vertebral Anomalies
Pectus carinatum, Short ribs, Missing ribs, Pseudoarthrosis, Pectus excavatum, Scoliosis OMIM:618155
Osteogenesis Imperfecta, Type Xvi
Platyspondyly, Osteopenia, Narrow chest, Decreased calvarial ossification, Bowing of the long bon... OMIM:616229
Achondrogenesis Type 1A
Narrow chest, Abnormal enchondral ossification, Macrocephaly, Multiple rib fractures, Short neck,... ORPHA:93299
Chromosome 8Q22.1 Duplication Syndrome
Genu recurvatum, Broad thumb, Limitation of joint mobility, Short thumb, Interphalangeal joint co... OMIM:151200
Achondrogenesis, Type Ia
Unossified vertebral bodies, Hypoplastic scapulae, Abnormal femoral metaphysis morphology, Bell-s... OMIM:200600
Mayer-Rokitansky-Küster-Hauser Syndrome Type 2
Short neck, Abnormal rib morphology, Vertebral segmentation defect ORPHA:2578
Osteogenesis Imperfecta, Type X
Thin ribs, Osteopenia, Platyspondyly, Narrow chest, Thoracic hypoplasia, Relative macrocephaly, B... OMIM:613848
Osteogenesis Imperfecta, Type Viii
Thin ribs, Osteopenia, Platyspondyly, Kyphosis, Slender long bone, Radial bowing, Femoral bowing,... OMIM:610915
Lethal Recessive Chondrodysplasia
Narrow chest, Flared elbow metaphyses, Generalized osteosclerosis, Accelerated skeletal maturatio... ORPHA:1423
Spondyloepimetaphyseal Dysplasia Congenita, Strudwick Type
Aplasia/hypoplasia involving bones of the extremities, Abnormal vertebral morphology, Platyspondy... ORPHA:93346
Chondrodysplasia With Joint Dislocations, Gpapp Type
Coronal craniosynostosis, Patellar dislocation, Short toe, Knee dislocation, Genu valgum, Limited... OMIM:614078
Progressive Spondyloepimetaphyseal Dysplasia-Short Stature-Short Fourth Metatarsals-Intellectual Disability Syndrome
Overlapping toe, Genu valgum, Carpal bone hypoplasia, Short neck, Beaking of vertebral bodies, Th... ORPHA:457395
Developmental And Epileptic Encephalopathy 80
Long philtrum, Tented upper lip vermilion, Protruding tongue, Smooth philtrum, High palate, Wide ... OMIM:618580
Osteogenesis Imperfecta, Type Xxi
Platyspondyly, Bowing of the arm, Bell-shaped thorax, Barrel-shaped chest, Joint hypermobility, W... OMIM:619131
Icf Syndrome
Macroglossia, Protruding tongue, Umbilical hernia ORPHA:2268
Osteogenesis Imperfecta, Type Xv
Thin ribs, Platyspondyly, Bowing of limbs due to multiple fractures, Joint hypermobility, Scolios... OMIM:615220
Mosaic Trisomy 14
Narrow chest, Short neck, Abnormal rib morphology, Camptodactyly of finger ORPHA:1703
Hypophosphatasia
Narrow chest, Bowing of the long bones, Abnormal rib morphology, Craniosynostosis, Abnormal metap... ORPHA:436
Spondyloepimetaphyseal Dysplasia, Shohat Type
Delayed epiphyseal ossification, Platyspondyly, Fibular overgrowth, Short femoral neck, Flared me... OMIM:602557
Congenital Disorder Of Glycosylation, Type Iia
Long philtrum, Diastema, Macrodontia, Gingival overgrowth, Open mouth, Protruding tongue, Everted... OMIM:212066
Greenberg Dysplasia
Fractured rib, Postaxial foot polydactyly, Supernumerary vertebral ossification centers, Barrel-s... OMIM:215140
Xylt1-Cdg
Broad thumb, Joint dislocation, Clinodactyly, Flared metaphysis, Broad ribs, Joint hypermobility,... ORPHA:370930
Spondyloepimetaphyseal Dysplasia, X-Linked
Hypoplasia of the odontoid process, Broad long bones, Broad phalanx, Flat acetabular roof, Short ... OMIM:300106
Kleefstra Syndrome 1
Natal tooth, Persistence of primary teeth, Protruding tongue, Everted lower lip vermilion, Macrog... OMIM:610253
Phaver Syndrome
Ulnar deviation of finger, Broad thumb, Short thumb, Abnormal form of the vertebral bodies, Campt... ORPHA:2876
Craniometadiaphyseal Dysplasia
Wide anterior fontanel, Osteopenia, Flared metaphysis, Broad long bones, Broad ribs, Sclerosis of... OMIM:269300
Aarskog-Scott Syndrome
Genu recurvatum, Small hand, Finger syndactyly, Camptodactyly of finger, Joint hypermobility, Abn... ORPHA:915
Mucopolysaccharidosis Type 6
Epiphyseal dysplasia, Broad ribs, Joint stiffness, Genu valgum, Short neck, Mucopolysacchariduria... ORPHA:583
Three M Syndrome 2
Short 5th finger, Thin ribs, Pectus carinatum, Slender long bone, Clinodactyly, Delayed skeletal ... OMIM:612921
Garg-Mishra Progeroid Syndrome
Thin ribs, Platyspondyly, Narrow chest, Slender long bone, Persistent open anterior fontanelle, S... OMIM:620601
Chst3-Related Skeletal Dysplasia
Abnormal form of the vertebral bodies, Irregular epiphyses, Small epiphyses, Genu valgum, Barrel-... ORPHA:263463
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type
Thin ribs, Platyspondyly, Metaphyseal cupping of metacarpals, Abnormality of the calcaneus, Hypop... ORPHA:163966
Spondylometaphyseal Dysplasia, Schmidt Type
Platyspondyly, Abnormal ilium morphology, Irregular iliac crest, Scoliosis, Short iliac bones, Ab... ORPHA:93316
Angelman Syndrome Due To A Point Mutation
Wide mouth, Protruding tongue, Widely spaced teeth ORPHA:411511
Growth Delay-Hydrocephaly-Lung Hypoplasia Syndrome
Radial bowing, Tibial bowing, Lower limb undergrowth, Bowing of the long bones, Abnormal fibula m... ORPHA:3035
Male Hypergonadotropic Hypogonadism-Intellectual Disability-Skeletal Anomalies Syndrome
Abnormal form of the vertebral bodies, Abnormality of the humeroulnar joint, Short neck, Hemivert... ORPHA:2234
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1
Macroglossia, Protruding tongue OMIM:242860
Pitt-Hopkins-Like Syndrome 2
Wide mouth, Protruding tongue OMIM:614325
Imperforate Oropharynx-Costovertebral Anomalies Syndrome
Abnormal form of the vertebral bodies, Joint hypermobility, Arachnodactyly, Missing ribs, Hemiver... ORPHA:2759
X-Linked Intellectual Disability-Cardiomegaly-Congestive Heart Failure Syndrome
Smooth philtrum, Protruding tongue, Everted lower lip vermilion ORPHA:324410
Bent Bone Dysplasia Syndrome 2
Thin ribs, Osteopenia, Platyspondyly, Hypoplastic acetabulae, Short 1st metacarpal, Short tibia, ... OMIM:620076
Angelman Syndrome
Macroglossia, Wide mouth, Protruding tongue, Widely spaced teeth OMIM:105830
Marshall-Smith Syndrome
Gingival overgrowth, Open mouth, Protruding tongue ORPHA:561
Spondyloepiphyseal Dysplasia-Brachydactyly-Speech Disorder Syndrome
Delayed skeletal maturation, Aplasia/Hypoplasia involving the pelvis, Broad long bones, Hypoplast... ORPHA:163654
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome
Ivory epiphyses, Hypoplastic ilia, Platyspondyly, Scoliosis, Abnormal epiphysis morphology, Metap... ORPHA:85167
Neurodevelopmental Disorder With Hypotonia, Neonatal Respiratory Insufficiency, And Thermodysregulation
Gingival overgrowth, Wide mouth, Protruding tongue OMIM:618797
Congenital Sialidosis Type 2
Inguinal hernia, Gingival overgrowth, Protruding tongue, Umbilical hernia ORPHA:93400
Osteogenesis Imperfecta, Type Xviii
Thin ribs, Femoral bowing, Biconcave vertebral bodies, Joint hypermobility, Bowing of the long bo... OMIM:617952
Kleefstra Syndrome Due To 9Q34 Microdeletion
Downturned corners of mouth, Inguinal hernia, Protruding tongue, Everted lower lip vermilion, Mac... ORPHA:96147
Leukodystrophy, Hypomyelinating, 26, With Chondrodysplasia
Hypoplastic cervical vertebrae, Elbow dislocation, Knee dislocation, Small epiphyses, Joint hyper... OMIM:620269
Klippel-Feil Syndrome 4, Autosomal Recessive, With Nemaline Myopathy And Facial Dysmorphism
Acetabular dysplasia, Cervical C2/C3 vertebral fusion, Microcephaly, Short neck, Thoracolumbar sc... OMIM:616549
Spondyloepiphyseal Dysplasia-Brachydactyly And Distinctive Speech
Delayed epiphyseal ossification, Hypoplastic iliac wing, Carpal bone hypoplasia, Short neck, Shor... OMIM:611717
Mucolipidosis Iii Alpha/Beta
Shallow acetabular fossae, Limitation of joint mobility, Broad ribs, Irregular carpal bones, Spon... OMIM:252600
Skeletal Defects, Genital Hypoplasia, And Impaired Intellectual Development
Aplasia/Hypoplasia of the radius, Absent thumb, Short tibia, Delayed skeletal maturation, Fibular... OMIM:612447
1P36 Deletion Syndrome
Scoliosis, Camptodactyly of finger, Delayed cranial suture closure, Joint stiffness, Clinodactyly... ORPHA:1606
Dysosteosclerosis
Sclerosis of hand bone, Increased intervertebral space, Diaphyseal undertubulation, Irregular ver... OMIM:224300
Cleidocranial Dysplasia
Hypoplastic scapulae, Genu valgum, Decreased skull ossification, Abnormal metacarpal morphology, ... ORPHA:1452
Cooper-Jabs Syndrome
Camptodactyly of finger, Abnormal hip bone morphology, Reduced bone mineral density, Joint hyperm... ORPHA:1488
Caudal Regression Syndrome
Abnormal pelvic girdle bone morphology, Aplasia/Hypoplasia of the sacrum, Joint stiffness, Missin... ORPHA:3027
Vitamin D Hydroxylation-Deficient Rickets, Type 1B
Delayed epiphyseal ossification, Rickets, Bulging epiphyses, Bone pain, Bulging of the costochond... OMIM:600081
Ring Chromosome 22 Syndrome
Protruding tongue, Thick vermilion border ORPHA:1446
Verheij Syndrome
Short 5th finger, Clinodactyly, Joint hypermobility, Microcephaly, Short neck, Hemivertebrae, Ver... OMIM:615583
Septopreoptic Holoprosencephaly
Abnormal vertebral morphology, Microcephaly, Abnormal rib morphology ORPHA:280195
10Q22.3Q23.3 Microduplication Syndrome
Microcephaly, Abnormal clavicle morphology, Abnormal rib morphology ORPHA:276422
Pyknoachondrogenesis
Abnormal intramembranous ossification, Unossified sacrum, Short iliac bones, Sclerosis of skull b... ORPHA:3003
Microcephaly 26, Primary, Autosomal Dominant
Gingival overgrowth, Protruding tongue, Long philtrum OMIM:619179
Cat-Eye Syndrome
Abnormal rib morphology, Hip dysplasia ORPHA:195
Ehlers-Danlos Syndrome, Classic-Like, 2
Osteopenia, Knee dislocation, Generalized joint hypermobility, Cervical C2/C3 vertebral fusion, J... OMIM:618000
Neurodevelopmental Disorder With Variable Motor And Language Impairment
Open mouth, Protruding tongue, Smooth philtrum, Everted lower lip vermilion, High palate OMIM:617804
Spondylocostal Dysostosis With Anal Atresia And Urogenital Anomalies
Thin ribs, Block vertebrae, Supernumerary vertebrae, Short ribs, Missing ribs, Rib fusion, Short ... OMIM:271520
Cantú Syndrome
Platyspondyly, Short distal phalanx of finger, Narrow chest, Finger syndactyly, Delayed skeletal ... ORPHA:1517
Down Syndrome
Narrow palate, Abnormality of the dentition, Macroglossia, Downturned corners of mouth, Thick low... ORPHA:870
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly
Hypoplastic ilia, Narrow chest, Thoracic hypoplasia, Lateral clavicle hook, Horizontal ribs, Shor... OMIM:617895
Postaxial Polydactyly-Dental And Vertebral Anomalies Syndrome
Elbow dislocation, Abnormal form of the vertebral bodies, Postaxial hand polydactyly, Hypoplastic... ORPHA:2916
Spondylometaepiphyseal Dysplasia, Short Limb-Hand Type
Hypoplasia of the odontoid process, Broad long bones, Bell-shaped thorax, Short neck, Broad phala... OMIM:271665
Lung Agenesis-Heart Defect-Thumb Anomalies Syndrome
Short distal phalanx of finger, Short thumb, Preaxial hand polydactyly, Abnormal thumb morphology... ORPHA:1120
Cardioneuromyopathy With Hyaline Masses And Nemaline Rods
Fusion of midcervical facet joints, Widening of cervical spinal canal, Cervical vertebral bodies ... OMIM:606842
Opsismodysplasia
Metaphyseal cupping, Hypoplasia of the odontoid process, Scoliosis, Narrow chest, Posterior rib c... OMIM:258480
Short-Rib Thoracic Dysplasia 8 With Or Without Polydactyly
Narrow chest, Lateral clavicle hook, Preaxial polydactyly, Thoracic dysplasia, Acetabular spurs, ... OMIM:615503
Intellectual Disability-Myopathy-Short Stature-Endocrine Defect Syndrome
Pectus carinatum, Limitation of joint mobility, Delayed skeletal maturation, Abnormal hip bone mo... ORPHA:3068
Robin Sequence-Oligodactyly Syndrome
Abnormality of the dentition, Glossoptosis, Cleft palate ORPHA:3104
Larsen Syndrome
Hypoplastic cervical vertebrae, Elbow dislocation, Beaking of vertebral bodies, Hip dislocation, ... OMIM:150250
Cenani-Lenz Syndrome
Synostosis of joints, Toe syndactyly, Synostosis of carpal bones, Finger syndactyly, Short thumb,... ORPHA:3258
Cole-Carpenter Syndrome 2
Thin ribs, Lambdoidal craniosynostosis, Osteopenia, Coronal craniosynostosis, Platyspondyly, Kyph... OMIM:616294
Dyssegmental Dysplasia, Silverman-Handmaker Type
Hypoplastic ilia, Anisospondyly, Narrow chest, Limitation of joint mobility, Broad long bones, Cl... ORPHA:1865
Multiple Epiphyseal Dysplasia Type 5
Multiple small vertebral fractures, Arthralgia of the hip, Abnormality of the epiphyses of the fe... ORPHA:93311
Congenital Pseudoarthrosis Of The Clavicle
Congenital pseudoarthrosis of the clavicle, Osteoarthritis, Cervical ribs ORPHA:66630
Multiple Pterygium Syndrome, Escobar Variant
Intercrural pterygium, Dysplastic patella, Patellar aplasia, Arachnodactyly, Short neck, Thoracol... OMIM:265000
Stapes Ankylosis With Broad Thumbs And Toes
Short distal phalanx of finger, Broad thumb, Toe syndactyly, Broad hallux, Proximal/middle sympha... OMIM:184460
Muscular Dystrophy-Dystroglycanopathy (Congenital With Or Without Impaired Intellectual Development), Type B, 5
Elbow contracture, Microcephaly, Hyperlordosis, Achilles tendon contracture, Vertebral fusion, Sc... OMIM:606612
Endosteal Hyperostosis, Autosomal Dominant
Sclerotic vertebral body, Metatarsal diaphyseal endosteal sclerosis, Abnormal pelvic girdle bone ... OMIM:144750
Acromesomelic Dysplasia 4
Radial bowing, Prominent deltoid tuberosities, Genu valgum, Beaking of vertebral bodies, Broad to... OMIM:619636
Becker Nevus Syndrome
Pectus excavatum, Scoliosis, Hemivertebrae, Cervical ribs OMIM:604919
Spondylometaphyseal Dysplasia, Sedaghatian Type
Platyspondyly, Narrow chest, Cone-shaped epiphysis, Abnormal scapula morphology, Delayed skeletal... ORPHA:93317
Spondylometaphyseal Dysplasia, Sedaghatian Type
Delayed epiphyseal ossification, Widened greater sciatic notch, Short neck, Horizontal inferior b... OMIM:250220
Angelman Syndrome Due To Maternal 15Q11Q13 Deletion
Wide mouth, Protruding tongue, Widely spaced teeth ORPHA:98794
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked
Diastema, Thick lower lip vermilion, Umbilical hernia, Protruding tongue, Thick vermilion border,... OMIM:301040
Kenny-Caffey Syndrome, Type 1
Thin ribs, Small hand, Slender long bone, Delayed skeletal maturation, Decreased skull ossificati... OMIM:244460
Kyphomelic Dysplasia
Platyspondyly, Limitation of joint mobility, Radial bowing, Flared metaphysis, Thoracic hypoplasi... OMIM:211350
Cartilage-Hair Hypoplasia
Small hand, Bowing of the long bones, Short neck, Diaphyseal undertubulation, Metaphyseal dysplas... ORPHA:175
Poland Syndrome
Small hand, Finger syndactyly, Aplasia/Hypoplasia of the sternum, Aplasia/Hypoplasia of the thumb... ORPHA:2911
Developmental And Epileptic Encephalopathy 31B
Gingival overgrowth, Protruding tongue OMIM:620352
Auriculocondylar Syndrome 4
Glossoptosis, Narrow mouth, Cleft palate OMIM:620457
Congenital Osteogenesis Imperfecta-Microcephaly-Cataracts Syndrome
Joint hypermobility, Decreased calvarial ossification, Microcephaly, Abnormal rib morphology, Rec... ORPHA:2772
Acro-Renal-Mandibular Syndrome
Thin ribs, Pectus carinatum, Hypoplastic scapulae, Kyphosis, Finger syndactyly, Rudimentary fibul... ORPHA:958
Congenital Disorder Of Glycosylation, Type Iie
Intrauterine growth retardation, Narrow mouth, Protruding tongue, Smooth philtrum, Thick vermilio... OMIM:608779
Frontometaphyseal Dysplasia
Joint contracture of the hand, Broad thumb, Short distal phalanx of the thumb, Limited elbow move... ORPHA:1826
Spondylometaphyseal Dysplasia With Cone-Rod Dystrophy
Platyspondyly, Metaphyseal cupping, Scoliosis, Flared metaphysis, Short finger, Joint stiffness, ... OMIM:608940
Dyssegmental Dysplasia, Rolland-Desbuquois Type
Joint contracture of the hand, Narrow chest, Limitation of joint mobility, Broad long bones, Shor... OMIM:224400
Kbg Syndrome
Radial deviation of finger, Delayed skeletal maturation, Cervical ribs, Ulnar deviation of the 2n... OMIM:148050
Infantile-Onset X-Linked Spinal Muscular Atrophy
Ankle flexion contracture, Interphalangeal joint contracture of finger, Elbow flexion contracture... ORPHA:1145
Otospondylomegaepiphyseal Dysplasia, Autosomal Recessive
Epiphyseal dysplasia, Platyspondyly, Aplasia/Hypoplasia of the capital femoral epiphysis, Flared ... OMIM:215150
X-Linked Dystonia-Parkinsonism
Protruding tongue ORPHA:53351
X-Linked Hypophosphatemia
Limitation of joint mobility, Genu valgum, Bowing of the long bones, Vertebral hyperostosis, Genu... ORPHA:89936
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly
Thoracic hypoplasia, Thoracic dysplasia, Genu valgum, Bell-shaped thorax, Short ribs, Brachydacty... OMIM:615630
Gm1-Gangliosidosis, Type Ii
Gingival overgrowth, Narrow mouth, Protruding tongue OMIM:230600
Otospondylomegaepiphyseal Dysplasia
Epiphyseal dysplasia, Abnormal vertebral morphology, Limitation of joint mobility, Abnormal joint... ORPHA:1427
Ritscher-Schinzel Syndrome 2
Short philtrum, High palate, Intestinal malrotation, Protruding tongue OMIM:300963
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly
Cone-shaped epiphysis, Metaphyseal spurs, Thoracic hypoplasia, Preaxial polydactyly, Acetabular s... OMIM:613091
Raine Syndrome
Natal tooth, Gingival overgrowth, Narrow mouth, Protruding tongue, Microdontia, Enamel hypoplasia... OMIM:259775
Burning Mouth Syndrome
Tongue pain, Strawberry tongue, Xerostomia, Smooth tongue, Parageusia, Abnormality of taste sensa... ORPHA:353253
Ossification Anomalies-Psychomotor Developmental Delay Syndrome
Short 5th finger, Short distal phalanx of finger, Triangular shaped distal phalanges of the hand,... ORPHA:73230
Chromosome 1P36 Deletion Syndrome, Distal
Short 5th finger, Delayed skeletal maturation, Camptodactyly of finger, 11 pairs of ribs, Rib fus... OMIM:607872
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type
Platyspondyly, Osteopenia, Thoracic hypoplasia, Flared metaphysis, Decreased fibular diameter, De... OMIM:616897
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 1, With Or Without Fractures
Epiphyseal dysplasia, Radial bowing, Carpal synostosis, Genu valgum, Hypoplastic iliac body, Shor... OMIM:271640
Campomelic Dysplasia
Small abnormally formed scapulae, Narrow chest, Kyphosis, Tracheomalacia, Macrocephaly, 11 pairs ... ORPHA:140
Campomelia, Cumming Type
Clubbing of toes, Abnormal thorax morphology, Death in infancy, Bowing of the long bones, Brachyd... ORPHA:1318
Dyssegmental Dysplasia, Silverman-Handmaker Type
Anisospondyly, Thoracic hypoplasia, Pterygium, Neonatal death, Bowing of the long bones, Microcep... OMIM:224410
Hoxha-Aliu Syndrome
Abnormal vertebral morphology, Overlapping toe, Absent fifth metatarsal, Patellar dislocation, Sh... OMIM:620662
Laron Syndrome
Delayed skeletal maturation, Short long bone, Abnormal joint morphology OMIM:262500
Multiple Synostoses Syndrome 1
Carpal synostosis, Cutaneous finger syndactyly, Proximal/middle symphalangism of 5th toe, Lower l... OMIM:186500
Brachytelephalangic Chondrodysplasia Punctata
Abnormality of the costochondral junction, Hypoplastic cervical vertebrae, Stippling of the epiph... ORPHA:79345
Renpenning Syndrome
Joint stiffness, Abnormal thumb morphology, Microcephaly, Sprengel anomaly, Abnormal rib morpholo... ORPHA:3242
Cleft Palate With Or Without Ankyloglossia, X-Linked
Bifid uvula, Ankyloglossia, Cleft palate OMIM:303400
Robinow Syndrome, Autosomal Recessive 1
Bifid distal phalanx of toe, Small hand, Broad thumb, Clinodactyly, Radial bowing, Delayed crania... OMIM:268310
Otopalatodigital Syndrome Type 2
Narrow chest, Synostosis of carpal bones, Short thumb, Elbow dislocation, Carpal synostosis, Prea... ORPHA:90652
Mucopolysaccharidosis, Type Vii
Hypoplasia of the odontoid process, Limitation of joint mobility, Genu valgum, Short neck, Anteri... OMIM:253220
Leukocyte Adhesion Deficiency Type Ii
Umbilical hernia, Intrauterine growth retardation, Gingival overgrowth, Protruding tongue, Deep p... ORPHA:99843
Holzgreve Syndrome
Joint stiffness, Abnormal morphology of ulna, Hand polydactyly, Abnormal metacarpal morphology, A... ORPHA:2167
Chronic Recurrent Multifocal Osteomyelitis 2, With Periostitis And Pustulosis
Osteopenia, Osteomyelitis, Broad ribs, Joint swelling, Flaring of rib cage, Osteolysis, Fused cer... OMIM:612852
Arthrogryposis, Cleft Palate, Craniosynostosis, And Impaired Intellectual Development
Thin ribs, Slender long bone, Decreased calvarial ossification, Brachydactyly, Craniosynostosis, ... OMIM:618265
Mucopolysaccharidosis, Type Vi
Epiphyseal dysplasia, Hypoplasia of the odontoid process, Hypoplastic iliac wing, Genu valgum, Ov... OMIM:253200
Hemangiomas, Cavernous, Of Face And Supraumbilical Midline Raphe
Bifid sternum, Supraumbilical raphe OMIM:140850
Joubert Syndrome 1
Macroglossia, Occipital myelomeningocele, Triangular-shaped open mouth, Protruding tongue OMIM:213300
Hypophosphatemic Rickets With Hypercalciuria, Hereditary
Delayed epiphyseal ossification, Rickets, Bulging epiphyses, Bone pain, Bulging of the costochond... OMIM:241530
Vertebral, Cardiac, Tracheoesophageal, Renal, And Limb Defects
Butterfly vertebrae, Microcephaly, Sprengel anomaly, Spina bifida occulta, Pectus excavatum, Fuse... OMIM:619227
Sillence Syndrome
Abnormal vertebral morphology, Broad thumb, Intervertebral disk degeneration, Flat acetabular roo... ORPHA:3168
Auriculocondylar Syndrome 2A
Mandibular condyle aplasia, Microglossia, Dental malocclusion, Dental crowding, Narrow mouth, Man... OMIM:614669
Mucopolysaccharidosis, Type Iiia
Heparan sulfate excretion in urine, Joint stiffness, Thickened ribs, Ovoid thoracolumbar vertebra... OMIM:252900
Craniosynostosis, Herrmann-Opitz Type
Finger syndactyly, Brachydactyly, Split hand, Abnormal rib morphology, Craniosynostosis ORPHA:2145
Angelman Syndrome
Wide mouth, Protruding tongue, Widely spaced teeth ORPHA:72
Peroxisome Biogenesis Disorder 1A (Zellweger)
High, narrow palate, Macroglossia, High palate, Protruding tongue OMIM:214100
Lymphangiectasia, Intestinal
Prominent floating ribs, Stillbirth OMIM:152800
Osteogenesis Imperfecta, Type Vii
Osteopenia, Narrow chest, Delayed cranial suture closure, Bowing of the legs, Recurrent fractures... OMIM:610682
Atelosteogenesis Type I
Platyspondyly, Narrow chest, Joint dislocation, Thoracic hypoplasia, Absent or minimally ossified... ORPHA:1190
Neurodevelopmental Disorder With Impaired Language And Ataxia And With Or Without Seizures
Protruding tongue OMIM:619580
Eiken Syndrome
Delayed epiphyseal ossification, Broad femoral neck, Clinodactyly, Long hallux, Broad ribs, Broad... OMIM:600002
Antley-Bixler Syndrome
Narrow chest, Delayed cranial suture closure, Camptodactyly of finger, Joint stiffness, Femoral b... ORPHA:83
Mosaic Trisomy 20
Narrow chest, Clinodactyly, Spinal canal stenosis, Vertebral segmentation defect, Down-sloping sh... ORPHA:1724
Sifrim-Hitz-Weiss Syndrome
Short clavicles, Wormian bones, Tapered finger, Macrocephaly, Flat acetabular roof, Short femoral... OMIM:617159
Hypophosphatemic Rickets, X-Linked Dominant
Shortening of the talar neck, Abnormal pelvic girdle bone morphology, Rachitic rosary, Rickets, O... OMIM:307800
Hurler Syndrome
Abnormal vertebral morphology, Abnormal epiphysis morphology, Limitation of joint mobility, Abnor... ORPHA:93473
Mucopolysaccharidosis, Type Iiib
Heparan sulfate excretion in urine, Joint stiffness, Ovoid thoracolumbar vertebrae, Thickened rib... OMIM:252920
Koolen-De Vries Syndrome
Kyphosis, Vertebral segmentation defect, Arachnodactyly, Joint hypermobility, Microcephaly, Pectu... ORPHA:96169
Axial Mesodermal Dysplasia Spectrum
Abnormal pelvic girdle bone morphology, Abnormal form of the vertebral bodies, Vertebral segmenta... ORPHA:1834
Mucopolysaccharidosis, Type Iiic
Heparan sulfate excretion in urine, Joint stiffness, Kyphoscoliosis, Ovoid thoracolumbar vertebra... OMIM:252930
Myhre Syndrome
Platyspondyly, Cone-shaped epiphysis, Limitation of joint mobility, Short toe, Clinodactyly, Shor... OMIM:139210
Schneckenbecken Dysplasia
Hypoplastic ilia, Hypoplastic scapulae, Narrow chest, Abnormal form of the vertebral bodies, Macr... ORPHA:3144
Ellis-Van Creveld Syndrome
Pectus carinatum, Capitate-hamate fusion, Postaxial foot polydactyly, Narrow chest, Hypoplastic i... OMIM:225500
Meier-Gorlin Syndrome 1
Thin ribs, Small hand, Joint contracture of the hand, Elbow dislocation, Cutaneous finger syndact... OMIM:224690
Congenital Disorder Of Glycosylation, Type Iig
Posterior rib gap, Osteopenia, Small hand, Shallow acetabular fossae, Broad femoral neck, Ulnar d... OMIM:611209
Vitamin D Hydroxylation-Deficient Rickets, Type 1A
Delayed epiphyseal ossification, Subperiosteal bone resorption, Rickets, Bulging epiphyses, Bone ... OMIM:264700
Cartilage-Hair Hypoplasia
Asymmetry of the thorax, Metaphyseal cupping, Abnormal pelvic girdle bone morphology, Hypoplasia ... OMIM:250250
Laryngotracheoesophageal Cleft Type 4
Abnormal form of the vertebral bodies, Abnormal rib morphology ORPHA:93941
Developmental And Epileptic Encephalopathy 100
Gingival overgrowth, Tented upper lip vermilion, Protruding tongue, Microdontia, Enamel hypoplasi... OMIM:619777
Wildervanck Syndrome
Fused cervical vertebrae OMIM:314600
Okur-Chung Neurodevelopmental Syndrome
Umbilical hernia, Inguinal hernia, Protruding tongue, Thin upper lip vermilion, High palate OMIM:617062
Intellectual Developmental Disorder With Dysmorphic Facies And Ptosis
Camptodactyly, Microcephaly, Cervical C2/C3 vertebral fusion, Joint hypermobility OMIM:617333
Intellectual Developmental Disorder, Autosomal Dominant 52
Pectus carinatum, Lumbar hyperlordosis, Lumbar scoliosis, Cervical C2/C3 vertebral fusion, Microc... OMIM:617796
Familial Osteodysplasia, Anderson Type
Aplastic clavicle, Bifid femur, Kyphosis, Elbow dislocation, Abnormal form of the vertebral bodie... ORPHA:2769
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly
Narrow chest, Thoracic dysplasia, Irregular epiphyses, Hypoplastic iliac wing, Hypoplastic pelvis... OMIM:208500
Prune Belly Syndrome
Congenital hip dislocation, Vertebral segmentation defect, Abnormal rib morphology, Pectus excava... ORPHA:2970
Gracile Bone Dysplasia
Thin ribs, Slender long bone, Flared metaphysis, Death in infancy, Decreased skull ossification, ... OMIM:602361
Thrombocytopenia-Absent Radius Syndrome
Short forearm, Broad thumb, Finger syndactyly, Carpal synostosis, Fibular aplasia, Patellar aplas... OMIM:274000
Mullerian Duct Aplasia, Unilateral Renal Agenesis, And Cervicothoracic Somite Anomalies
Sprengel anomaly, Abnormality of the vertebral column, Abnormal rib morphology OMIM:601076
Faciodigitogenital Syndrome, Autosomal Recessive
Abnormal rib cage morphology, Down-sloping shoulders, Hyperextensible hand joints, Metatarsus add... OMIM:227330
Koolen-De Vries Syndrome
Slender finger, Kyphosis, Prominent fingertip pads, Spondylolisthesis, Joint hypermobility, Micro... OMIM:610443
Stuve-Wiedemann Syndrome 1
Thin ribs, Short tibia, Metaphyseal rarefaction, Bowing of the long bones, Hypoplastic iliac body... OMIM:601559
Familial Congenital Mirror Movements
Fused cervical vertebrae ORPHA:238722
Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy
Macroglossia, Open mouth, Protruding tongue ORPHA:258
Catel-Manzke Syndrome
Oral synechia, Glossoptosis, Cleft palate ORPHA:1388
Shwachman-Diamond Syndrome 1
Narrow chest, Proximal femoral epiphysiolysis, Delayed skeletal maturation, Metaphyseal sclerosis... OMIM:260400
Microcephaly-Seizures-Intellectual Disability-Heart Disease Syndrome
Abnormal sternum morphology, Broad ribs, Short ribs, Microcephaly, Abnormal rib morphology, Posta... ORPHA:2519
Cataracts, Growth Hormone Deficiency, Sensory Neuropathy, Sensorineural Hearing Loss, And Skeletal Dysplasia
Delayed epiphyseal ossification, Congenital hip dislocation, Osteopenia, Hypoplasia of the odonto... OMIM:616007
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome
Broad thumb, Thoracic hemivertebrae, Overlapping toe, Short neck, Cervical hemivertebrae, Broad p... ORPHA:508498
Thoracic Outlet Syndrome
Abnormal rib morphology ORPHA:97330
Mosaic Trisomy 8
Narrow chest, Limitation of joint mobility, Arthrogryposis multiplex congenita, Camptodactyly of ... ORPHA:96061
Microphthalmia, Syndromic 3
Butterfly vertebrae, Missing ribs, Rib fusion, Supernumerary ribs, Microcephaly, Hemivertebrae, V... OMIM:206900
Multiple Osteochondromas
Rib exostoses, Limitation of joint mobility, Abnormal tibia morphology, Limited hip movement, Gen... ORPHA:321
Alagille Syndrome
Short distal phalanx of finger, Abnormal form of the vertebral bodies, Delayed skeletal maturatio... ORPHA:52
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 5
Hyperlordosis, Achilles tendon contracture, Vertebral fusion, Scoliosis, Kyphosis OMIM:607155
Duane-Radial Ray Syndrome
Absent thumb, Short thumb, Sandal gap, Shoulder dislocation, Preaxial polydactyly, Short humerus,... OMIM:607323
Shashi-Pena Syndrome
Kyphosis, Cervical C2/C3 vertebral fusion, Accelerated skeletal maturation, Macrocephaly, Osteopo... OMIM:617190
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly
Narrow chest, Short tibia, Unicoronal synostosis, Preaxial polydactyly, Relative macrocephaly, Hy... OMIM:616300
Campomelic Dysplasia
Delayed epiphyseal ossification, Thin ribs, Hypoplastic scapulae, Hypoplastic cervical vertebrae,... OMIM:114290
Van Den Ende-Gupta Syndrome
Thin ribs, Hypoplastic scapulae, Long metacarpals, Joint contracture of the hand, Long hallux, Ar... OMIM:600920
Schwartz-Jampel Syndrome
Arthrogryposis multiplex congenita, Elbow dislocation, Genu valgum, Hip contracture, Bowing of th... ORPHA:800
Fanconi Anemia, Complementation Group I
Absent thumb, Short thumb, Short 1st metacarpal, Microcephaly, Short neck, Hypoplasia of the radi... OMIM:609053
Shprintzen-Goldberg Craniosynostosis Syndrome
Thin ribs, Osteopenia, Joint contracture of the hand, Genu recurvatum, C1-C2 vertebral abnormalit... OMIM:182212
Lethal Congenital Contracture Syndrome 10
Narrow chest, Stiff neck, Broad ribs, Overlapping fingers, Femoral bowing, Thoracic scoliosis, Sh... OMIM:617022
Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly
Short distal phalanx of finger, Hypoplastic scapulae, Narrow chest, Thoracic dysplasia, Polydacty... OMIM:614091
Acrorenal-Mandibular Syndrome
Thin ribs, Hypoplastic scapulae, Toe syndactyly, Narrow chest, Abnormal sacral segmentation, Rudi... OMIM:200980
Hartnup Disorder
Glossitis OMIM:234500
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia
Broad thumb, Toe syndactyly, Shallow acetabular fossae, Hypoplastic iliac wing, Short neck, Aplas... OMIM:609945
Peroxisome Biogenesis Disorder 8A (Zellweger)
Glossoptosis OMIM:614876
Hemifacial Atrophy, Progressive
Tongue atrophy, Dental malocclusion, Delayed eruption of teeth, Short mandibular rami OMIM:141300
Metaphyseal Chondrodysplasia, Jansen Type
Osteopenia, Metaphyseal cupping, Pathologic fracture, Hip contracture, Knee flexion contracture, ... OMIM:156400
Mucolipidosis Ii Alpha/Beta
Bullet-shaped phalanges of the hand, Atlantoaxial dislocation, Hypoplastic scapulae, Hypoplasia o... OMIM:252500
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 2
Joint stiffness, Bicoronal synostosis, 11 pairs of ribs, Joint hypermobility, Microcephaly, Brach... OMIM:619184
Trisomy 13
Abnormal pelvic girdle bone morphology, Narrow chest, Ectrodactyly, Abnormal rib morphology, Post... ORPHA:3378
Short-Rib Thoracic Dysplasia 20 With Polydactyly
Narrow chest, Short tibia, Preaxial polydactyly, Horizontal ribs, Long thorax, Fibular hypoplasia... OMIM:617925
Radio-Renal Syndrome
Abnormal form of the vertebral bodies, Short neck, Hypoplasia of the radius, Brachydactyly, Abnor... ORPHA:3015
Autosomal Dominant Otospondylomegaepiphyseal Dysplasia
Glossoptosis, Cleft palate, Long philtrum ORPHA:166100
Amyotrophic Lateral Sclerosis 12 With Or Without Frontotemporal Dementia
Tongue fasciculations, Tongue atrophy OMIM:613435
Fontaine Progeroid Syndrome
High, narrow palate, Long philtrum, Anteriorly placed anus, Umbilical hernia, Intrauterine growth... OMIM:612289
Marfanoid Habitus-Autosomal Recessive Intellectual Disability Syndrome
Thin ribs, Osteopenia, Thin metacarpal cortices, Thin metatarsal cortices, Lumbar hemivertebrae, ... ORPHA:2463
Lateral Meningocele Syndrome
Sclerosis of skull base, Biconcave vertebral bodies, Joint hypermobility, Wormian bones, Short ne... OMIM:130720
Metaphyseal Dysostosis-Intellectual Disability-Conductive Deafness Syndrome
Short femoral neck, Flared metaphysis, Short palm, Aplasia/Hypoplasia of metatarsal bones, Antecu... ORPHA:2502
Wildervanck Syndrome
Short neck, Fused cervical vertebrae ORPHA:3456
Gm1-Gangliosidosis, Type I
Joint stiffness, Death in infancy, Hypoplastic vertebral bodies, Short neck, Beaking of vertebral... OMIM:230500
Camptodactyly Syndrome, Guadalajara Type 3
Osteopenia, Small hand, Broad femoral neck, Delayed skeletal maturation, Thickened cortex of long... ORPHA:488434
Mucopolysaccharidosis, Type Iiid
Epiphyseal dysplasia, Elbow flexion contracture, Heparan sulfate excretion in urine, Joint stiffn... OMIM:252940
Alkaptonuria
Limited hip movement, Intervertebral disk degeneration, Arthropathy, Low back pain, Limited shoul... OMIM:203500
Acro-Renal-Ocular Syndrome
Short distal phalanx of the thumb, Toe syndactyly, Finger syndactyly, Aplasia/Hypoplasia of the r... ORPHA:959
Blomstrand Lethal Chondrodysplasia
Natal tooth, Protruding tongue, Long philtrum ORPHA:50945
Sclerosteosis 1
Broad clavicles, Abnormal pelvic girdle bone morphology, Deviation of finger, Broad ribs, Sclerot... OMIM:269500
Gm1 Gangliosidosis Type 1
Platyspondyly, Pectus carinatum, Beaking of vertebral bodies T12-L3, Broad long bone diaphyses, A... ORPHA:79255
Degcags Syndrome
Long philtrum, Intrauterine growth retardation, Protruding tongue, Jejunal atresia, Hiatus hernia... OMIM:619488
Simpson-Golabi-Behmel Syndrome
Congenital hip dislocation, Broad thumb, Toe syndactyly, Short toe, Finger syndactyly, Camptodact... ORPHA:373
Short-Rib Thoracic Dysplasia 12
Hypoplastic scapulae, Narrow chest, Short toe, Short finger, Thoracic dysplasia, Macrocephaly, Bo... OMIM:269860
Gillessen-Kaesbach-Nishimura Syndrome
Decreased skull ossification, Microcephaly, Narrow greater sciatic notch, Short neck, Metaphyseal... OMIM:263210
Lenz-Majewski Hyperostotic Dwarfism
Broad clavicles, Flared metaphysis, Aplasia/Hypoplasia of the middle phalanges of the hand, Delay... OMIM:151050
Aspergillosis
Osteomyelitis, Abnormality of the vertebral column, Abnormal long bone morphology, Abnormal rib m... ORPHA:1163
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency
Abnormal vertebral morphology, Hypoplastic scapulae, Limitation of joint mobility, Clinodactyly, ... ORPHA:95699
Congenital Myopathy 22B, Severe Fetal
Thin ribs, Tapered toe, Shoulder flexion contracture, Slender long bone, Thoracic hypoplasia, Elb... OMIM:620369
Apert Syndrome
Delayed epiphyseal ossification, Lambdoidal craniosynostosis, Broad distal phalanx of the thumb, ... OMIM:101200
Premature Aging Syndrome, Penttinen Type
Thin ribs, Short distal phalanx of finger, Slender long bone, Delayed skeletal maturation, Delaye... OMIM:601812
Fibrous Dysplasia Of Bone
Rickets, Abnormal clavicle morphology, Abnormal rib morphology, Osteomalacia, Abnormal tibia morp... ORPHA:249
Hyperparathyroidism, Transient Neonatal
Thin ribs, Osteopenia, Fractured rib, Narrow chest, Metaphyseal spurs, Femoral bowing, Undulate r... OMIM:618188
Lethal Congenital Contracture Syndrome 5
Thin ribs, Flexion contracture, Congenital contracture, Death in infancy OMIM:615368
Ulna And Fibula, Absence Of, With Severe Limb Deficiency
Radial bowing, Aplasia/Hypoplasia of the pubic bone, Fibular aplasia, Humeroradial synostosis, Ba... OMIM:276820
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly
Platyspondyly, Polysyndactyly of hallux, Pectus carinatum, Narrow chest, Postaxial polysyndactyly... OMIM:263520
Osteogenesis Imperfecta
Thin ribs, Abnormal tibia morphology, Enlarged vertebral pedicles, Genu valgum, Decreased skull o... ORPHA:666
Autosomal Recessive Multiple Pterygium Syndrome
Axillary pterygium, Popliteal pterygium, Limitation of joint mobility, Finger syndactyly, Arthrog... ORPHA:2990
Autosomal Dominant Popliteal Pterygium Syndrome
Popliteal pterygium, Toe syndactyly, Finger syndactyly, Joint stiffness, Split hand, Abnormal rib... ORPHA:1300
Orofaciodigital Syndrome Type 5
High, narrow palate, Bifid uvula, Absent cupid's bow, Cleft soft palate, Median cleft upper lip, ... ORPHA:2919
Kyphoscoliosis-Lateral Tongue Atrophy-Hereditary Spastic Paraplegia Syndrome
Tongue atrophy ORPHA:496689
Occipital Horn Syndrome
Platyspondyly, Pectus carinatum, Broad clavicles, Narrow chest, Persistent open anterior fontanel... OMIM:304150
Severe Congenital Nemaline Myopathy
Thin ribs, Abnormal thorax morphology, Adducted thumb, Multiple prenatal fractures, Flexion contr... ORPHA:171430
Oculocerebrocutaneous Syndrome
Short distal phalanx of finger, Congenital hip dislocation, Finger syndactyly, Missing ribs, Hand... ORPHA:1647
Orofaciodigital Syndrome Iii
Postaxial foot polydactyly, Short sternum, Postaxial hand polydactyly, Pectus excavatum, Kyphosis OMIM:258850
Ventricular Extrasystoles With Syncope, Perodactyly, And Robin Sequence
Posteriorly placed tongue, Submucous cleft hard palate, Pierre-Robin sequence OMIM:192445
Trisomy 1Q
Toe syndactyly, Short thorax, Camptodactyly of finger, Preaxial hand polydactyly, Macrocephaly, A... ORPHA:261344
Tetraamelia-Multiple Malformations Syndrome
Missing ribs, Abnormally ossified vertebrae, Abnormal rib morphology, Aplasia/Hypoplasia involvin... ORPHA:3301
Cog1-Cdg
Posterior rib gap, Osteopenia, Butterfly vertebrae, Vertebral segmentation defect, Kyphoscoliosis... ORPHA:263508
Multiple Pterygium-Malignant Hyperthermia Syndrome
Ulnar deviation of finger, Arthrogryposis multiplex congenita, Finger syndactyly, Camptodactyly o... ORPHA:2215
Weill-Marchesani Syndrome 1
Broad phalanges of the hand, Spinal canal stenosis, Broad ribs, Joint stiffness, Lumbar hyperlord... OMIM:277600
Intellectual Disability-Hypotonic Facies Syndrome, X-Linked, 1
Thick lower lip vermilion, Wide mouth, Open mouth, Protruding tongue, Tented upper lip vermilion,... OMIM:309580
Proximal 16P11.2 Microdeletion Syndrome
Abnormal vertebral morphology, Rib fusion, Hand polydactyly, Macrocephaly, Craniosynostosis, Scol... ORPHA:261197
Bilateral Perisylvian Polymicrogyria
Intrauterine growth retardation, Protruding tongue ORPHA:98889
Ankyloglossia With Or Without Tooth Anomalies
Ankyloglossia, Supernumerary tooth OMIM:106280
Microcephaly, Short Stature, And Polymicrogyria With Or Without Seizures
Thin ribs, Microcephaly, Flexion contracture OMIM:614833
Kagami-Ogata Syndrome
Thin ribs, Bell-shaped thorax, Kyphoscoliosis, Long fingers, Long clavicles, Flexion contracture,... OMIM:608149
Auriculocondylar Syndrome 1
Mandibular condyle aplasia, Dental malocclusion, Dental crowding, Anterior open-bite malocclusion... OMIM:602483
Frontometaphyseal Dysplasia 2
Congenital hip dislocation, Broad thumb, Finger clinodactyly, Flared metaphysis, Elbow contractur... OMIM:617137
Myotubular Myopathy With Abnormal Genital Development
Thin ribs, Neonatal death, Death in infancy, Joint hypermobility OMIM:300219
Monosomy 9Q22.3
Abnormality of the vertebral column, Abnormal rib morphology, Macrocephaly, Polydactyly, Joint hy... ORPHA:77301
Holt-Oram Syndrome
Hypoplastic scapulae, Short forearm, Radial bowing, Elbow dislocation, Ulnar deviation of thumb, ... OMIM:142900
Cardiospondylocarpofacial Syndrome
Cone-shaped epiphysis, Delayed skeletal maturation, Carpal synostosis, Fusion of middle ear ossic... OMIM:157800
Down Syndrome
Duodenal stenosis, Protruding tongue, Aganglionic megacolon, Macroglossia, Anal atresia OMIM:190685
Vertebral Hypersegmentation And Orofacial Anomalies
Joint hypermobility, Supernumerary ribs, Scapular winging, Six lumbar vertebrae, Pectus excavatum OMIM:619122
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Microdeletion
Thoracic hypoplasia, Overlapping toe, Joint hypermobility, Long toe, Flexion contracture of finge... ORPHA:254528
Ophthalmoplegia-Intellectual Disability-Lingua Scrotalis Syndrome
Furrowed tongue ORPHA:2743
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14
Hypoplastic scapulae, Abnormality of the costochondral junction, Short tibia, Thumb contracture, ... ORPHA:96334
Geleophysic Dysplasia 1
Platyspondyly, Osteopenia, Joint contracture of the hand, Cone-shaped epiphysis, Short metacarpal... OMIM:231050
Vacterl/Vater Association
Aplasia/Hypoplasia of the radius, Finger syndactyly, Preaxial hand polydactyly, Vertebral segment... ORPHA:887
Myasthenic Syndrome, Congenital, 10
Tongue atrophy OMIM:254300
Wolf-Hirschhorn Syndrome
Pseudoepiphyses of the metacarpals, Kyphosis, Short thumb, Delayed skeletal maturation, Preaxial ... OMIM:194190
Hypocalcemic Vitamin D-Dependent Rickets
Delayed epiphyseal ossification, Subperiosteal bone resorption, Rachitic rosary, Rickets, Osteoma... ORPHA:289157
Microphthalmia With Limb Anomalies
Synostosis of joints, Toe syndactyly, Synostosis of carpal bones, Finger syndactyly, Postaxial fo... ORPHA:1106
Lipoid Proteinosis
Abnormal oral mucosa morphology, Microglossia, Thick lower lip vermilion, Abnormality of the ging... ORPHA:530
Chromosome 16P12.2-P11.2 Deletion Syndrome, 7.1- To 8.7-Mb
Intrauterine growth retardation, Open mouth, Thin upper lip vermilion, High palate, Glossoptosis,... OMIM:613604
Shwachman-Diamond Syndrome 2
Death in childhood, Death in infancy, Microcephaly, Metaphyseal widening, Anterior rib cupping, M... OMIM:617941
Cataract-Intellectual Disability-Hypogonadism Syndrome
Tooth malposition, Furrowed tongue, Everted lower lip vermilion, High palate, Short philtrum ORPHA:1387
Autosomal Recessive Robinow Syndrome
Broad thumb, Toe syndactyly, Synostosis of carpal bones, Finger syndactyly, Elbow dislocation, Sh... ORPHA:1507
Deafness-Craniofacial Syndrome
Abnormality of the dentition, Short lingual frenulum, Abnormal palate morphology, Bifid tongue, S... ORPHA:3241
Autosomal Dominant Centronuclear Myopathy
Thin ribs, Macrocephaly at birth, Miscarriage ORPHA:169189
X-Linked Myotubular Myopathy-Abnormal Genitalia Syndrome
Thin ribs, Joint hypermobility ORPHA:456328
Myhre Syndrome
Platyspondyly, Abnormal epiphysis morphology, Joint stiffness, Abnormal metaphysis morphology, Br... ORPHA:2588
Robinow Syndrome
Short distal phalanx of finger, Macrocephaly, Kyphoscoliosis, Missing ribs, Bifid distal phalanx ... ORPHA:97360
Craniotubular Dysplasia, Ikegawa Type