Not currently registered for phenotyping at IMPC

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

Gene Summary

Name:
transcription factor 15
Synonyms:
bHLH-EC2,  Meso1,  paraxis

IMPC Data Collections

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

IMPC Phenotype Summary

Significant
Not Significant
Not tested

Phenotypes

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

lacZ Expression

Expression data not available

Associated Images

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

Phenotype associated images not available

Human diseases caused by Tcf15 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.

No human diseases associated to this gene by orthology or annotation.

The table below shows human diseases predicted to be associated to Tcf15 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Pelvic Hypoplasia With Lower-Limb Arthrogryposis
Narrow chest, Congenital foot contractures, Scoliosis, Scapular winging, Hip contracture, Paraspi... OMIM:602484
Poland Syndrome
Unilateral hypoplasia of pectoralis major muscle, Hypoplasia of latissimus dorsi muscle, Hypoplas... OMIM:173800
Spondylocostal Dysostosis 3, Autosomal Recessive
Supernumerary vertebral ossification centers, Scoliosis, Vertebral segmentation defect, Kyphosis,... OMIM:609813
Myopathy, X-Linked, With Postural Muscle Atrophy
Spinal rigidity, Skeletal muscle hypertrophy, Scoliosis, Rimmed vacuoles, Scapular winging, EMG: ... OMIM:300696
Autosomal Recessive Spondylocostal Dysostosis
Congenital diaphragmatic hernia, Low-set, posteriorly rotated ears, Spina bifida occulta, Abnorma... ORPHA:2311
Becker Nevus Syndrome
Abnormal tibia morphology, Spina bifida occulta, Pectus carinatum, Scoliosis, Pectus excavatum, K... ORPHA:64755
Spondylocostal Dysostosis 1, Autosomal Recessive
Kyphoscoliosis, Abnormal odontoid process morphology, Hemivertebrae, Vertebral segmentation defec... OMIM:277300
Cutis Laxa, Autosomal Recessive, Type Iie
Clinodactyly of the 5th finger, Inguinal hernia, Short thorax, Scoliosis, Pectus excavatum, Heari... OMIM:619451
Femoral-Facial Syndrome
Abnormal fibula morphology, Inguinal hernia, Scoliosis, Vertebral segmentation defect, Microtia, ... ORPHA:1988
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 27
Muscular dystrophy, Proximal muscle weakness in upper limbs, Distal lower limb muscle weakness, S... OMIM:619566
Radioulnar Synostosis-Microcephaly-Scoliosis Syndrome
Clinodactyly of the 5th finger, Finger syndactyly, Pectus carinatum, Scoliosis, Abnormal rib morp... ORPHA:3268
Spondylocostal Dysostosis 2, Autosomal Recessive
Hemivertebrae, Vertebral segmentation defect, Vertebral clefting, Rib fusion, Short neck OMIM:608681
Autosomal Dominant Spondylocostal Dysostosis
Spina bifida occulta, Short thorax, Scoliosis, Hyperlordosis, Vertebral segmentation defect, Miss... ORPHA:1797
Cerebrofaciothoracic Dysplasia
Low-set, posteriorly rotated ears, Narrow chest, Scoliosis, Hemivertebrae, Vertebral segmentation... ORPHA:1394
Richieri Costa-Da Silva Syndrome
Kyphoscoliosis, Beaking of vertebral bodies, Distal lower limb muscle weakness, Genu valgum, Gene... ORPHA:3101
Schwartz-Jampel Syndrome, Type 1
Kyphoscoliosis, Flexion contracture of toe, Pectus carinatum, Wrist flexion contracture, Umbilica... OMIM:255800
Stuve-Wiedemann Syndrome 2
Stillbirth, Respiratory distress, Scoliosis, Short long bone, Bowing of the long bones, Camptodac... OMIM:619751
Anauxetic Dysplasia 3
Beaking of vertebral bodies, Hip subluxation, Genu valgum, Narrow chest, Broad middle phalanx of ... OMIM:618853
Myotonia With Skeletal Abnormalities And Mental Retardation
Kyphoscoliosis, Genu valgum, Bell-shaped thorax, Vertebral wedging, Pectus carinatum, Skeletal mu... OMIM:255710
Congenital Myopathy 10A, Severe Variant
Respiratory distress, Scoliosis, Facial palsy, Pectus excavatum, EMG: myopathic abnormalities, Mu... OMIM:614399
Cutis Laxa, Autosomal Recessive, Type Iiia
Hyperextensible skin, Joint hypermobility, Inguinal hernia, Scoliosis, Distal amyotrophy, Low-set... OMIM:219150
Craniofacial Dysmorphism, Skeletal Anomalies, And Impaired Intellectual Development Syndrome 1
Pectus excavatum, Joint hypermobility, Craniosynostosis, Overlapping toe, Sacral dimple, Inguinal... OMIM:213980
Neurogenic Thoracic Outlet Syndrome
Abnormal rib morphology ORPHA:100073
Multiple Pterygium Syndrome, Escobar Variant
Congenital diaphragmatic hernia, Rocker bottom foot, Dislocated radial head, Kyphosis, Arachnodac... OMIM:265000
Basal Cell Nevus Syndrome 1
Kyphoscoliosis, Polydactyly, Short 4th metacarpal, Short distal phalanx of the thumb, Vertebral w... OMIM:109400
Spondylocostal Dysostosis 5
Butterfly vertebrae, Pectus carinatum, Scoliosis, Hemivertebrae, Missing ribs, Supernumerary ribs... OMIM:122600
Spondylocostal Dysostosis 4, Autosomal Recessive
Abnormal odontoid process morphology, Bell-shaped thorax, Spina bifida occulta, Short thorax, Sco... OMIM:613686
Congenital Muscular Dystrophy With Intellectual Disability
Skeletal muscle hypertrophy, Scoliosis, Calf muscle hypertrophy, Hypoglycosylation of alpha-dystr... ORPHA:370968
Endosteal Hyperostosis, Worth Type
Diaphyseal undertubulation, Clavicular sclerosis, Sclerotic vertebral body, Abnormal cortical bon... ORPHA:2790
Metatropic Dysplasia
Kyphoscoliosis, Narrow greater sciatic notch, Relatively short spine, Short ribs, Flat acetabular... OMIM:156530
Congenital Disorder Of Glycosylation, Type Iig
Kyphoscoliosis, Microtia, Short long bone, Broad femoral neck, Left ventricular hypertrophy, Butt... OMIM:611209
Autosomal Recessive Multiple Pterygium Syndrome
Abnormal sternum morphology, Pectus excavatum, Symphalangism affecting the phalanges of the hand,... ORPHA:2990
Infantile-Onset X-Linked Spinal Muscular Atrophy
Kyphoscoliosis, Ankle flexion contracture, Weakness of facial musculature, Inflammatory myopathy,... ORPHA:1145
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects
Congenital diaphragmatic hernia, Multiple joint dislocation, Sandal gap, Enlarged metaphyses, Dis... OMIM:245600
Diastrophic Dysplasia
Proximal placement of thumb, Abnormal form of the vertebral bodies, Kyphosis, Joint stiffness, Sy... ORPHA:628
Gorlin Syndrome
Bifid ribs, Abnormal vertebral morphology, Vertebral wedging, Scoliosis, Hemivertebrae, Abnormal ... ORPHA:377
Metatropic Dysplasia
Abnormal metaphysis morphology, Clinodactyly of the 5th finger, Low-set, posteriorly rotated ears... ORPHA:2635
Diaphanospondylodysostosis
Absent or minimally ossified vertebral bodies, Respiratory distress, Short thorax, Enlarged thora... ORPHA:66637
Perching Syndrome
Respiratory distress, Scoliosis, Camptodactyly, Joint contracture, Dysphagia OMIM:617055
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 4
Muscular dystrophy, Peroneal muscle weakness, Skeletal muscle hypertrophy, Hypoglycosylation of a... OMIM:611588
Scarf Syndrome
Low-set, posteriorly rotated ears, Inguinal hernia, Abnormal form of the vertebral bodies, Pectus... ORPHA:3134
Pontine Tegmental Cap Dysplasia
Sensorineural hearing impairment, Scoliosis, Hemivertebrae, Facial palsy, Rib fusion, Head tituba... OMIM:614688
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 2
Kyphoscoliosis, Pectus excavatum, Cutis laxa, Joint hypermobility, Hip dislocation, Dysplasia of ... OMIM:615349
Myopathy, Centronuclear, 1
Proximal upper limb amyotrophy, Proximal muscle weakness in upper limbs, Distal lower limb muscle... OMIM:160150
Proximal 16P11.2 Microdeletion Syndrome
Congenital diaphragmatic hernia, Abnormal vertebral morphology, Sensorineural hearing impairment,... ORPHA:261197
Weaver Syndrome
Abnormal metaphysis morphology, Low-set, posteriorly rotated ears, Sandal gap, Inguinal hernia, F... ORPHA:3447
Fetal Akinesia Deformation Sequence 4
Rocker bottom foot, 11 pairs of ribs, Low-set ears, Camptodactyly, Kyphosis, Prenatal death, Neon... OMIM:618393
Scarf Syndrome
Lambdoidal craniosynostosis, Barrel-shaped chest, Inguinal hernia, Abnormal form of the vertebral... OMIM:312830
Pomt1-Related Limb-Girdle Muscular Dystrophy R11
Muscular dystrophy, Spinal rigidity, Respiratory distress, Scoliosis, Calf muscle hypertrophy, Tr... ORPHA:86812
Spondylometaphyseal Dysplasia, Type A4
Narrow greater sciatic notch, Sclerotic humeral metaphysis, Costochondral joint sclerosis, Enlarg... OMIM:609052
Myopathic Ehlers-Danlos Syndrome
Kyphoscoliosis, Hyperlordosis, Pectus excavatum, Kyphosis, Congenital finger flexion contractures... ORPHA:536516
Weaver Syndrome
Radial deviation of finger, Hypoplastic iliac wing, Short ribs, Prominent fingertip pads, Limited... OMIM:277590
Thanatophoric Dysplasia
Abnormal metaphysis morphology, Abnormal ilium morphology, Narrow chest, Short thorax, Redundant ... ORPHA:2655
Isolated Klippel-Feil Syndrome
Abnormal shoulder morphology, Cervical C2/C3 vertebral fusion, Abnormality of the vertebral colum... ORPHA:2345
Ehlers-Danlos Syndrome, Classic-Like, 2
Osteopenia, Generalized joint hypermobility, Hyperextensible skin, Cervical C2/C3 vertebral fusio... OMIM:618000
Aicardi Syndrome
Butterfly vertebrae, Bifid ribs, Scoliosis, Missing ribs, Supernumerary ribs, Block vertebrae, Ri... ORPHA:50
Robinow Syndrome, Autosomal Recessive 1
Hypoplastic sacrum, Radial deviation of finger, Dislocated radial head, Microtia, Pectus excavatu... OMIM:268310
Heart Defects-Limb Shortening Syndrome
Abnormal metaphysis morphology, Narrow chest, Abnormal form of the vertebral bodies, Kyphosis, Ab... ORPHA:1354
Platyspondylic Lethal Skeletal Dysplasia, Torrance Type
Short ribs, Flat acetabular roof, Short long bone, Dumbbell-shaped long bone, Hypoplastic ischia,... OMIM:151210
Imperforate Oropharynx-Costovertebral Anomalies Syndrome
Clinodactyly of the 5th finger, Abnormal form of the vertebral bodies, Respiratory distress, Hemi... ORPHA:2759
Kniest Dysplasia
Tibial bowing, Pectus excavatum, Dumbbell-shaped long bone, Hypoplastic pelvis, Dumbbell-shaped f... OMIM:156550
Cutis Laxa, Autosomal Recessive, Type Iib
Osteopenia, Protruding ear, Excessive wrinkled skin, Inguinal hernia, Scoliosis, Redundant skin, ... OMIM:612940
Spondylodysplastic Ehlers-Danlos Syndrome
Kyphoscoliosis, Subluxation of the small joints of the hand, Pectus carinatum, Abnormal femoral h... ORPHA:536471
Hypo- And Hypermelanotic Cutaneous Macules-Retarded Growth-Intellectual Disability Syndrome
Abnormal rib morphology ORPHA:2435
Odontochondrodysplasia 1
Biconvex vertebral bodies, Cone-shaped epiphyses of the phalanges of the hand, Pectus carinatum, ... OMIM:184260
Aicardi Syndrome
Butterfly vertebrae, Bifid ribs, Proximal placement of thumb, Scoliosis, Hemivertebrae, Missing r... OMIM:304050
Thanatophoric Dysplasia Type 1
Abnormal metaphysis morphology, Excessive wrinkled skin, Narrow chest, Short greater sciatic notc... ORPHA:1860
Rafiq Syndrome
Clinodactyly of the 5th finger, Low-set ears, Cutis laxa, Macrotia, Flexion contracture, Joint hy... OMIM:614202
Geroderma Osteodysplastica
Beaking of vertebral bodies, Abnormal bone ossification, Hyperextensible skin, Vertebral compress... ORPHA:2078
Neurogenic Arthrogryposis Multiplex Congenita
Rocker bottom foot, Ankle flexion contracture, Respiratory distress, Scoliosis, Elbow flexion con... ORPHA:1143
Thanatophoric Dysplasia Type 2
Abnormal metaphysis morphology, Encephalocele, Narrow chest, Short thorax, Redundant skin, Limita... ORPHA:93274
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14
Kyphoscoliosis, Redundant neck skin, Small proximal tibial epiphyses, Broad distal phalanx of fin... ORPHA:96334
Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans
Recurrent otitis media, Narrow chest, Respiratory distress, Wide anterior fontanel, Redundant ski... OMIM:616482
Man1B1-Cdg
Clinodactyly of the 5th finger, Pectus carinatum, 2-3 toe syndactyly, Low-set ears, Polyphagia, C... ORPHA:397941
Sprengel Deformity
Cervical segmentation defect, Spina bifida occulta, Scoliosis, Hemivertebrae, Shoulder muscle hyp... OMIM:184400
1P36 Deletion Syndrome
Sensorineural hearing impairment, Microtia, Kyphosis, Joint stiffness, Dysphagia, Myopathy, Low-s... ORPHA:1606
Arterial Tortuosity Syndrome
Congenital diaphragmatic hernia, Hyperextensible skin, Inguinal hernia, Hiatus hernia, Pectus car... OMIM:208050
B4Galt7-Related Spondylodysplastic Ehlers-Danlos Syndrome
Kyphoscoliosis, Osteopenia, Hyperextensible skin, Cutis laxa, Arachnodactyly, Flexion contracture... ORPHA:75496
Cooper-Jabs Syndrome
Congenital diaphragmatic hernia, Reduced bone mineral density, Low-set, posteriorly rotated ears,... ORPHA:1488
Hemihyperplasia, Isolated
Skeletal muscle hypertrophy, Scoliosis, Myelomeningocele OMIM:235000
Uruguay Faciocardiomusculoskeletal Syndrome
Kyphoscoliosis, Limited elbow movement, Skeletal muscle hypertrophy, Scoliosis, Dislocation of to... OMIM:300280
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 2
Muscular dystrophy, Skeletal muscle hypertrophy, Scoliosis, Hyperlordosis, Facial palsy, Flexion ... OMIM:613156
Chromosome 1P36 Deletion Syndrome, Distal
Sensorineural hearing impairment, Microtia, Self-mutilation, Dysphagia, Short 5th finger, Thicken... OMIM:607872
Schwartz-Jampel Syndrome
Spinal rigidity, Flexion contracture of toe, Pectus carinatum, Hyperlordosis, Pectus excavatum, W... ORPHA:800
Charcot-Marie-Tooth Disease, Demyelinating, Type 1H
Distal lower limb amyotrophy, Distal lower limb muscle weakness, Hyperextensible skin, Distal upp... OMIM:619764
Fibrochondrogenesis 1
Narrow greater sciatic notch, Abnormal pinna morphology, Short ribs, Short long bone, Dumbbell-sh... OMIM:228520
Lethal Congenital Contracture Syndrome Type 1
Abnormal cortical bone morphology, Low-set, posteriorly rotated ears, Abnormal hip bone morpholog... ORPHA:1486
Calpain-3-Related Limb-Girdle Muscular Dystrophy R1
Muscular dystrophy, Ankle flexion contracture, Spinal rigidity, Calf muscle hypertrophy, Hyperlor... ORPHA:267
Intellectual Developmental Disorder With Speech Delay And Axonal Peripheral Neuropathy
Kyphoscoliosis, Distal amyotrophy, Respiratory distress OMIM:619099
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 3
Ankle flexion contracture, Scoliosis, Calf muscle hypertrophy, Scapular winging, EMG: myopathic a... OMIM:608099
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome
Abnormal clavicle morphology, Abnormal metaphysis morphology, Proximal placement of thumb, Narrow... ORPHA:93267
Musculocontractural Ehlers-Danlos Syndrome
Kyphoscoliosis, Recurrent joint dislocation, Abnormal sternum morphology, Abnormal pinna morpholo... ORPHA:2953
Coffin-Lowry Syndrome
Abnormal form of the vertebral bodies, Pectus carinatum, Sensorineural hearing impairment, Redund... ORPHA:192
Cutis Laxa, Autosomal Recessive, Type Iia
Excessive wrinkled skin, Inguinal hernia, Wide anterior fontanel, Scoliosis, Redundant skin, Low-... OMIM:219200
Myopathy And Diabetes Mellitus
Respiratory distress, Sensorineural hearing impairment, Weakness of orbicularis oculi muscle, Ske... ORPHA:2596
Autosomal Recessive Robinow Syndrome
Chronic otitis media, Abnormal hip bone morphology, Sandal gap, Pectus carinatum, Pectus excavatu... ORPHA:1507
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 6
Muscular dystrophy, Skeletal muscle hypertrophy, Calf muscle hypertrophy, Elbow flexion contractu... OMIM:608840
Kyphomelic Dysplasia
Lateral clavicle hook, Abnormal metaphysis morphology, Narrow chest, Abnormal form of the vertebr... ORPHA:1801
Shox-Related Short Stature
Ulnar radial head dislocation, Genu valgum, Cubitus valgus, Madelung deformity, Skeletal muscle h... ORPHA:314795
Muscular Dystrophy, Congenital, 1B
Muscular dystrophy, Spinal rigidity, Facial palsy, Pectoralis amyotrophy, Sternocleidomastoid amy... OMIM:604801
Charcot-Marie-Tooth Disease Type 1B
Skeletal muscle hypertrophy, Hearing impairment, Scoliosis, Skeletal muscle atrophy ORPHA:101082
Kbg Syndrome
Cervical ribs, Radial deviation of finger, Clinodactyly of the 5th finger, Thoracic kyphosis, Uln... OMIM:148050
Cranioectodermal Dysplasia 4
Broad distal phalanx of finger, Narrow chest, Broad phalanx of the toes, Pectus excavatum, Cutis ... OMIM:614378
De Barsy Syndrome
Kyphoscoliosis, Osteopenia, Excessive wrinkled skin, Inguinal hernia, Low-set ears, Pectus excava... ORPHA:2962
Myotonia Permanens
Skeletal muscle hypertrophy, Hyperlordosis, Limitation of joint mobility, Dyspnea, Generalized mu... ORPHA:99735
Odontochondrodysplasia
Abnormal metaphysis morphology, Square pelvis bone, Narrow chest, Respiratory distress, Scoliosis... ORPHA:166272
Geroderma Osteodysplasticum
Kyphoscoliosis, Beaking of vertebral bodies, Osteopenia, Premature skin wrinkling, Vertebral comp... OMIM:231070
Progeroid Syndrome, Petty Type
Low-set, posteriorly rotated ears, Wide anterior fontanel, Redundant skin, Decreased skull ossifi... ORPHA:2963
Neuralgic Amyotrophy
Redundant neck skin, Scapular winging, Upper limb muscle weakness, Sprengel anomaly, Upper limb a... ORPHA:2901
Spondyloepiphyseal Dysplasia Congenita
Limited elbow movement, Cervical myelopathy, Limitation of knee mobility, Delayed pubic bone ossi... OMIM:183900
Lethal Recessive Chondrodysplasia
Narrow chest, Respiratory distress, Short long bone, Flared elbow metaphyses, Generalized osteosc... ORPHA:1423
Dyggve-Melchior-Clausen Disease
Abnormal hip bone morphology, Hyperactivity, Pectus carinatum, Abnormal femoral head morphology, ... ORPHA:239
Craniofaciofrontodigital Syndrome
Osteopenia, Premature skin wrinkling, Respiratory distress, Pectus carinatum, Scoliosis, Dyspnea,... ORPHA:363705
Mitochondrial Dna Depletion Syndrome, Myopathic Form
Respiratory distress, Scoliosis, Spinal muscular atrophy, Skeletal muscle atrophy, Severe sensori... ORPHA:254875
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 3
Muscular dystrophy, Skeletal muscle hypertrophy, Calf muscle hypertrophy, Hyperlordosis, Increase... OMIM:613157
Phaver Syndrome
Butterfly vertebrae, Triphalangeal thumb, Pterygium, Abnormal form of the vertebral bodies, Aplas... ORPHA:2876
Axial Spondylometaphyseal Dysplasia
Narrow greater sciatic notch, Hypoplastic iliac wing, Delayed ossification of carpal bones, Short... ORPHA:168549
Global Developmental Delay-Alopecia-Macrocephaly-Facial Dysmorphism-Structural Brain Anomalies Syndrome
Sacral dimple, Clinodactyly of the 5th finger, Tapered toe, Inguinal hernia, Sensorineural hearin... ORPHA:544488
X-Linked Charcot-Marie-Tooth Disease Type 5
Skeletal muscle hypertrophy, Hearing impairment, Scoliosis, Kyphosis ORPHA:99014
Cutis Laxa, Neonatal, With Marfanoid Phenotype
Congenital diaphragmatic hernia, Cutis laxa, Arachnodactyly, Hip dislocation OMIM:614100
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 28
Proximal muscle weakness in upper limbs, Respiratory distress, Lower limb amyotrophy, Calf muscle... OMIM:620375
Ehlers-Danlos Syndrome, Arthrochalasia Type, 1
Osteopenia, Hyperextensible skin, Congenital bilateral hip dislocation, Joint subluxation, Scolio... OMIM:130060
Rin2 Syndrome
Hyperextensible skin, Abnormal sternum morphology, Scoliosis, Redundant skin, Brachydactyly, Umbi... ORPHA:217335
Lenz-Majewski Hyperostotic Dwarfism
Broad clavicles, Sensorineural hearing impairment, Cutis laxa, Syndactyly, Joint hypermobility, B... OMIM:151050
Myasthenic Syndrome, Congenital, 4A, Slow-Channel
Sudden episodic apnea, Respiratory distress, Apneic episodes precipitated by illness, fatigue, st... OMIM:605809
Mosaic Trisomy 14
Low-set, posteriorly rotated ears, Narrow chest, Microtia, Abnormal rib morphology, Camptodactyly... ORPHA:1703
Spondyloepimetaphyseal Dysplasia, Irapa Type
Abnormal metaphysis morphology, Abnormal carpal morphology, Genu valgum, Short metatarsal, Upper ... ORPHA:93351
Spondylomegaepiphyseal Dysplasia With Upper Limb Mesomelia, Punctate Calcifications, And Deafness
Beaking of vertebral bodies, Narrow greater sciatic notch, Cone-shaped epiphyses of the phalanges... OMIM:609616
Myasthenic Syndrome, Congenital, 6, Presynaptic
Sudden episodic apnea, Respiratory distress, Apneic episodes precipitated by illness, fatigue, st... OMIM:254210
C Syndrome
Radial deviation of finger, Dislocated radial head, Scoliosis, Low-set ears, Short metacarpal, Po... OMIM:211750
Leri-Weill Dyschondrosteosis
Limited elbow movement, Tibial bowing, Increased carrying angle, Coxa valga, Hypoplasia of the ul... OMIM:127300
Osteogenesis Imperfecta
Mixed hearing impairment, Reduced bone mineral density, Abnormal femur morphology, Abnormal hip b... ORPHA:666
Fibrochondrogenesis
Abnormal metaphysis morphology, Abnormal diaphysis morphology, Bell-shaped thorax, Narrow chest, ... ORPHA:2021
Wolf-Hirschhorn Syndrome
Congenital diaphragmatic hernia, Chronic otitis media, Hypoplastic pubic ramus, Abnormal form of ... ORPHA:280
Congenital Disorder Of Glycosylation, Type Iy
Joint dislocation, Respiratory distress, Scoliosis, Macrotia, Clinodactyly OMIM:300934
Macs Syndrome
Hyperextensible skin, Scoliosis, Redundant skin, Pectus excavatum, Osteoporosis, Cutis laxa, Brac... OMIM:613075
Lethal Osteosclerotic Bone Dysplasia
Respiratory distress, Delayed cranial suture closure, Low-set ears, Dyspnea, Posteriorly rotated ... ORPHA:1832
Craniodiaphyseal Dysplasia, Autosomal Dominant
Craniofacial hyperostosis, Diaphyseal sclerosis, Facial diplegia, Cortical sclerosis, Death in ad... OMIM:122860
Osteogenesis Imperfecta, Type X
Tibial bowing, Thoracic hypoplasia, Joint hypermobility, Broad ribs, Fibular bowing, Inguinal her... OMIM:613848
Severe X-Linked Mitochondrial Encephalomyopathy
Increased variability in muscle fiber diameter, Skeletal muscle atrophy, Respiratory distress ORPHA:238329
Mesomelic Dysplasia, Kantaputra Type
Abnormal fibula morphology, Tarsal synostosis, Cubitus valgus, Clinodactyly of the 5th finger, Du... ORPHA:1836
Spondylocostal Dysostosis With Anal Atresia And Urogenital Anomalies
Inguinal hernia, Scoliosis, Thin ribs, Short ribs, Hemivertebrae, Missing ribs, Block vertebrae, ... OMIM:271520
Aarskog-Scott Syndrome
Hyperextensible skin, Low-set, posteriorly rotated ears, Clinodactyly of the 5th finger, Inguinal... ORPHA:915
Mucopolysaccharidosis, Type Iva
Cervical myelopathy, Pectus carinatum, Hyperlordosis, Kyphosis, Constricted iliac wing, Large elb... OMIM:253000
Intellectual Disability-Myopathy-Short Stature-Endocrine Defect Syndrome
Clinodactyly of the 5th finger, Abnormal hip bone morphology, Craniofacial hyperostosis, Pectus c... ORPHA:3068
Lung Agenesis-Heart Defect-Thumb Anomalies Syndrome
Congenital diaphragmatic hernia, Abnormal thumb morphology, Triphalangeal thumb, Proximal placeme... ORPHA:1120
Craniodiaphyseal Dysplasia
Diaphyseal undertubulation, Conductive hearing impairment, Craniofacial hyperostosis, Abnormal ri... ORPHA:1513
Diaphanospondylodysostosis
Absent in utero rib ossification, Bell-shaped thorax, Lumbosacral meningocele, Hammertoe, Tracheo... OMIM:608022
Short-Rib Thoracic Dysplasia 9 With Or Without Polydactyly
Clinodactyly of the 2nd finger, Cone-shaped epiphyses of the phalanges of the hand, Short ribs, C... OMIM:266920
6P22 Microdeletion Syndrome
Finger syndactyly, Redundant skin, Low-set ears, Hearing impairment, Clinodactyly, Short neck, Ov... ORPHA:251046
Cutis Laxa-Marfanoid Syndrome
Congenital diaphragmatic hernia, Redundant skin, Limitation of joint mobility, Arachnodactyly, Fl... ORPHA:171719
Ehlers-Danlos Syndrome, Classic Type, 2
Hyperextensible skin, Recurrent joint dislocation, Congenital hip dislocation, Joint hypermobilit... OMIM:130010
Neurodevelopmental Disorder With Spastic Quadriplegia And Brain Abnormalities With Or Without Seizures
Kyphoscoliosis, Joint contracture, Respiratory distress OMIM:617977
Symptomatic Form Of Muscular Dystrophy Of Duchenne And Becker In Female Carriers
Calf muscle hypertrophy, Thoracic kyphosis, Elbow flexion contracture, Abnormality of the shoulde... ORPHA:206546
Pallister-Hall Syndrome
Microtia, Oligodactyly, Shortening of all distal phalanges of the fingers, Syndactyly, Hip disloc... OMIM:146510
Classical-Like Ehlers-Danlos Syndrome Type 2
Kyphoscoliosis, Sandal gap, Redundant skin, Pectus excavatum, Kyphosis, Arachnodactyly, Equinus c... ORPHA:536532
Kyphoscoliotic Ehlers-Danlos Syndrome Due To Fkbp22 Deficiency
Kyphoscoliosis, Osteopenia, Hyperextensible skin, Sensorineural hearing impairment, Skeletal musc... ORPHA:300179
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly
Lateral clavicle hook, Hypoplasia of the radius, Narrow chest, Respiratory distress, Short ribs, ... OMIM:617895
Pseudoxanthoma Elasticum-Like Skin Manifestations With Retinitis Pigmentosa
Cutis laxa, Redundant skin, Increased number of skin folds ORPHA:436274
Ehlers-Danlos Syndrome, Periodontal Type, 2
Hyperextensible skin, Joint dislocation, Inguinal hernia, Scoliosis, Umbilical hernia, Joint hype... OMIM:617174
Ogden Syndrome
Torticollis, Inguinal hernia, Delayed cranial suture closure, Scoliosis, Low-set ears, Cutis laxa... ORPHA:276432
Septopreoptic Holoprosencephaly
Abnormal vertebral morphology, Ethmoidal encephalocele, Abnormal rib morphology, Impulsivity, Dys... ORPHA:280195
Spondyloepimetaphyseal Dysplasia, X-Linked, With Hypomyelinating Leukodystrophy
Kyphoscoliosis, Flared iliac wing, Flattened epiphysis, Wormian bones, Short finger, Small epiphy... OMIM:300232
Metaphyseal Chondrodysplasia, Schmid Type
Short tubular bones of the hand, Distal femoral metaphyseal irregularity, Femoral bowing, Short l... ORPHA:174
Femoral-Facial Syndrome
Limited elbow movement, Aplasia/hypoplasia of the femur, Short humerus, Absent vertebra, Syndacty... OMIM:134780
Achondroplasia
Narrow greater sciatic notch, Short ribs, Femoral bowing, Trident hand, Death in infancy, Thoraci... OMIM:100800
Congenital Myopathy 2C, Severe Infantile, Autosomal Dominant
Death in childhood, Abnormality of skeletal muscle fiber size, Weakness of facial musculature, Re... OMIM:620278
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome
Kyphoscoliosis, Multiple joint dislocation, Mixed hearing impairment, Pectus carinatum, Pectus ex... ORPHA:536467
Congenital Muscular Dystrophy-Respiratory Failure-Skin Abnormalities-Joint Hyperlaxity Syndrome
Spinal rigidity, Scoliosis, Pectus excavatum, EMG: myopathic abnormalities, Limb muscle weakness,... ORPHA:486815
Cardiospondylocarpofacial Syndrome
Congenital diaphragmatic hernia, Cone-shaped epiphysis, Tarsal synostosis, Fused cervical vertebr... OMIM:157800
Muscular Dystrophy-Dystroglycanopathy (Congenital With Or Without Impaired Intellectual Development), Type B, 5
Muscular dystrophy, Calf muscle hypertrophy, Scoliosis, Hyperlordosis, Facial palsy, Kyphosis, EM... OMIM:606612
Spondylometaphyseal Dysplasia, Sedaghatian Type
Narrow greater sciatic notch, Cone-shaped epiphyses of the phalanges of the hand, Redundant skin,... OMIM:250220
Mitochondrial Complex I Deficiency, Nuclear Type 30
Redundant skin, Neonatal death OMIM:301021
Spondylometaphyseal Dysplasia, Axial
Narrow greater sciatic notch, Narrow chest, Scoliosis, Coxa vara, Anterior rib cupping, Thoracic ... OMIM:602271
Short-Rib Thoracic Dysplasia 17 With Or Without Polydactyly
Lateral clavicle hook, Narrow chest, Short ribs, Postaxial hand polydactyly, Acetabular spurs, De... OMIM:617405
Osteogenesis Imperfecta, Type Ix
Platyspondyly, Pectus carinatum, Scoliosis, Recurrent fractures, Pectus excavatum, Kyphosis, Decr... OMIM:259440
Congenital Myopathy 22B, Severe Fetal
Spinal rigidity, Pectus excavatum, Thoracic hypoplasia, Scoliosis, Elbow flexion contracture, Lim... OMIM:620369
Muscular Pseudohypertrophy-Hypothyroidism Syndrome
Skeletal muscle hypertrophy, Macroglossia, Myopathy, Umbilical hernia ORPHA:2349
Cutis Laxa, Autosomal Dominant 2
Cutis laxa, Scoliosis, Premature skin wrinkling OMIM:614434
Intellectual Disability-Polydactyly-Uncombable Hair Syndrome
Aplasia/Hypoplasia of fingers, Clinodactyly of the 5th finger, Aplasia/Hypoplasia of the earlobes... ORPHA:3082
Shprintzen-Goldberg Craniosynostosis Syndrome
Dislocated radial head, Pectus carinatum, Abnormal pinna morphology, Pectus excavatum, Arachnodac... OMIM:182212
Muscle Hypertrophy
Skeletal muscle hypertrophy OMIM:614160
Loeys-Dietz Syndrome 4
Hyperextensible skin, Torticollis, Spondylolisthesis, Inguinal hernia, Abnormal sternum morpholog... OMIM:614816
Cutis Laxa, Autosomal Dominant 3
Osteopenia, Protruding ear, Adducted thumb, Premature skin wrinkling, Delayed cranial suture clos... OMIM:616603
Tetrasomy 5P
Redundant neck skin, Clinodactyly of the 5th finger, Short hallux, Respiratory distress, Wide ant... ORPHA:3309
Isolated Congenital Hypoglossia/Aglossia
Aplasia/Hypoplasia of fingers, Dyspnea, Respiratory distress ORPHA:141152
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 6
Plantar flexion contracture, Respiratory distress, Paradoxical respiration, Fiber type grouping, ... OMIM:620011
Klippel-Feil Syndrome 1, Autosomal Dominant
Mixed hearing impairment, Cervical C2/C3 vertebral fusion, Congenital muscular torticollis, Senso... OMIM:118100
Myotubular Myopathy With Abnormal Genital Development
Respiratory distress, Thin ribs, Death in infancy, Centrally nucleated skeletal muscle fibers, Ne... OMIM:300219
Ehlers-Danlos Syndrome, Dermatosparaxis Type
Osteopenia, Recurrent mandibular subluxations, Hyperextensible skin, Inguinal hernia, Wide anteri... OMIM:225410
Cutis Laxa, Autosomal Recessive, Type Ia
Congenital diaphragmatic hernia, Hyperextensible skin, Inguinal hernia, Redundant skin, Pectus ex... OMIM:219100
Baller-Gerold Syndrome
Limited elbow movement, Mixed hearing impairment, Carpal bone aplasia, Oligodactyly, Short humeru... OMIM:218600
Occipital Horn Syndrome
Pectus carinatum, Broad clavicles, Redundant skin, Pectus excavatum, Kyphosis, Limited knee exten... OMIM:304150
Cornelia De Lange Syndrome 6
Clinodactyly of the 5th finger, Hair-pulling, Inguinal hernia, Pectus carinatum, Scoliosis, Low-s... OMIM:620568
Meier-Gorlin Syndrome 1
Absent sternal ossification, Pectus carinatum, Microtia, Short ribs, Death in infancy, Joint hype... OMIM:224690
Rippling Muscle Disease 2
Skeletal muscle hypertrophy, Calf muscle hypertrophy OMIM:606072
Anoctamin-5-Related Limb-Girdle Muscular Dystrophy R12
Lower limb amyotrophy, Calf muscle hypertrophy, Wrist flexion contracture, Upper limb amyotrophy,... ORPHA:206549
White Forelock With Malformations
Clinodactyly of the 5th finger, Low-set, posteriorly rotated ears, Spina bifida occulta, Finger s... ORPHA:2475
3M Syndrome
Rocker bottom foot, Enlarged thorax, Hyperlordosis, Kyphosis, Hypoplastic ischia, Hypoplastic pel... ORPHA:2616
Spondyloepimetaphyseal Dysplasia, Irapa Type
Limited elbow extension, Hypoplastic sacrum, Genu valgum, Enlargement of the costochondral juncti... OMIM:271650
Spondyloepimetaphyseal Dysplasia, Strudwick Type
Narrow greater sciatic notch, Genu valgum, Delayed pubic bone ossification, Metaphyseal dappling,... OMIM:184250
Shprintzen-Goldberg Syndrome
Abnormal form of the vertebral bodies, Pectus carinatum, Pectus excavatum, Joint stiffness, Arach... ORPHA:2462
Hypomyelination Neuropathy-Arthrogryposis Syndrome
Limitation of joint mobility, Respiratory distress ORPHA:2680
Congenital Myasthenic Syndrome
Kyphoscoliosis, Distal lower limb muscle weakness, Spinal rigidity, Sudden episodic apnea, Pectus... ORPHA:590
Presynaptic Congenital Myasthenic Syndromes
Kyphoscoliosis, Distal lower limb muscle weakness, Spinal rigidity, Sudden episodic apnea, Pectus... ORPHA:98914
Trichothiodystrophy 8, Nonphotosensitive
Protruding ear, Cutis laxa, Head titubation, Ankle clonus OMIM:619691
Osteogenesis Imperfecta, Type Iii
Slender long bone, Wide anterior fontanel, Thin ribs, Scoliosis, Tibial bowing, Kyphosis, Biconca... OMIM:259420
Pseudoachondroplasia
Short long bone, Short metacarpal, Kyphosis, Metaphyseal irregularity, Joint hypermobility, Limit... OMIM:177170
Spinal muscular atrophy, type I, with congenital bone fractures
Osteopenia, Rocker bottom foot, Acute infantile spinal muscular atrophy, Respiratory distress, Pe... OMIM:271225
Gapo Syndrome
Bell-shaped thorax, Wide anterior fontanel, Scoliosis, Delayed cranial suture closure, Facial pal... OMIM:230740
Melnick-Needles Syndrome
Abnormal metaphysis morphology, Osteolytic defects of the phalanges of the hand, Abnormal cortica... ORPHA:2484
Campomelic Dysplasia
Kyphoscoliosis, Absent sternal ossification, Dislocated radial head, Pectus carinatum, Hypoplasti... OMIM:114290
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 2
Respiratory distress, Ragged-red muscle fibers, Generalized amyotrophy, Dysphagia, Pallor OMIM:613561
Jeune Syndrome
Abnormal clavicle morphology, Abnormal metaphysis morphology, Narrow chest, Short thorax, Abnorma... ORPHA:474
Slc39A13-Related Spondylodysplastic Ehlers-Danlos Syndrome
Osteopenia, Abnormal metaphysis morphology, Hyperextensible skin, Flat capital femoral epiphysis,... ORPHA:157965
Microcephaly-Cervical Spine Fusion Anomalies Syndrome
Abnormal clavicle morphology, Fused cervical vertebrae, Abnormal hip bone morphology, Hyperlordos... ORPHA:2522
Myopathy, Centronuclear, 6, With Fiber-Type Disproportion
Muscle fiber splitting, Ankle flexion contracture, Scoliosis, Hyperlordosis, Calf muscle hypertro... OMIM:617760
Rahman Syndrome
Kyphoscoliosis, Redundant skin, Camptodactyly OMIM:617537
Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 2
Kyphoscoliosis, Osteopenia, Mixed hearing impairment, Hyperextensible skin, Inguinal hernia, Cuti... OMIM:614557
Acromesomelic Dysplasia 1
Cone-shaped epiphyses of the phalanges of the hand, Short metacarpal, Broad metatarsal, Redundant... OMIM:602875
Rnf13-Related Severe Early-Onset Epileptic Encephalopathy
Inguinal hernia, Respiratory distress, Sensorineural hearing impairment, Scoliosis, Metacarpophal... ORPHA:544503
Cutis Laxa, Autosomal Recessive, Type Iiib
Osteopenia, Excessive wrinkled skin, Inguinal hernia, Prominent ear helix, Elbow flexion contract... OMIM:614438
Spondylometaphyseal Dysplasia, Kozlowski Type
Kyphoscoliosis, Narrow greater sciatic notch, Cone-shaped epiphyses of the phalanges of the hand,... OMIM:184252
Schneckenbecken Dysplasia
Lateral clavicle hook, Metaphyseal irregularity, Stillbirth, Narrow chest, Snail-like ilia, Short... OMIM:269250
Aldh18A1-Related De Barsy Syndrome
Joint hypermobility, Hyperextensible skin ORPHA:35664
Myopathy, Congenital, With Fiber-Type Disproportion, X-Linked
Respiratory distress, Frontalis muscle weakness, Facial palsy, Type 1 fibers relatively smaller t... OMIM:300580
Grant Syndrome
Abnormal cortical bone morphology, Narrow chest, Joint dislocation, Joint hypermobility, Decrease... ORPHA:2097
Spondylo-Ocular Syndrome
Hyperextensible skin, Abnormal intervertebral disk morphology, Joint hypermobility, Facial hypoto... ORPHA:85194
Developmental And Epileptic Encephalopathy 30
Respiratory distress, Motor stereotypy, Death in infancy OMIM:616341
Congenital Muscular Dystrophy With Cerebellar Involvement
Occipital encephalocele, Muscular dystrophy, Skeletal muscle hypertrophy, Calf muscle pseudohyper... ORPHA:370959
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 3
Hypoplasia of the ulna, Multiple joint dislocation, Carpal bone hypoplasia, Platyspondyly, Joint ... OMIM:618395
Renpenning Syndrome
Abnormal thumb morphology, Clinodactyly of the 5th finger, Sensorineural hearing impairment, Pect... ORPHA:3242
Short-Rib Thoracic Dysplasia 16 With Or Without Polydactyly
Short metatarsal, Sandal gap, Narrow chest, Short thorax, Cone-shaped epiphyses of the phalanges ... OMIM:617102
Muscular Hypertonia, Lethal
Death in infancy, Respiratory distress, Umbilical hernia OMIM:254120
Mohr-Tranebjaerg Syndrome
Abnormal posturing, Postlingual sensorineural hearing impairment, Intrinsic hand muscle atrophy, ... OMIM:304700
Spondyloepimetaphyseal Dysplasia, Borochowitz-Cormier-Daire Type
Limited elbow extension, Narrow greater sciatic notch, Irregular epiphyses, Dysplastic iliac wing... OMIM:608728
Cog1-Cdg
Kyphoscoliosis, Butterfly vertebrae, Osteopenia, Low-set, posteriorly rotated ears, Microtia, Ver... ORPHA:263508
Zttk Syndrome
Cervical ribs, Hyperextensible skin, Joint hypermobility, Scoliosis, Hemivertebrae, Low-set ears,... OMIM:617140
Synaptic Congenital Myasthenic Syndromes
Hypoventilation, Exertional dyspnea, Respiratory distress, Scoliosis, Scapular winging, Facial pa... ORPHA:98915
Periodontal Ehlers-Danlos Syndrome
Joint hypermobility, Hyperextensible skin ORPHA:75392
Methylmalonic Aciduria And Homocystinuria, Cblj Type
Abnormal posturing, Bell-shaped thorax, Inguinal hernia, Tachypnea, Horizontal ribs OMIM:614857
Axial Mesodermal Dysplasia Spectrum
Congenital diaphragmatic hernia, Abnormal form of the vertebral bodies, Scoliosis, Vertebral segm... ORPHA:1834
Rippling Muscle Disease 1
Skeletal muscle hypertrophy OMIM:600332
Dyggve-Melchior-Clausen Disease
Narrow greater sciatic notch, Multicentric ossification of proximal humeral epiphyses, Cone-shape... OMIM:223800
Congenital Disorder Of Glycosylation, Type Iir
Cutis laxa, Low-set ears OMIM:301045
Congenital Myopathy 7B, Myosin Storage, Autosomal Recessive
Muscle fiber hyaline bodies, Exertional dyspnea, Death in early adulthood, Scoliosis, Calf muscle... OMIM:255160
Wrinkly Skin Syndrome
Osteopenia, Inguinal hernia, Slender long bone, Hypoplasia of the musculature, Wide anterior font... OMIM:278250
Autosomal Recessive Cutis Laxa Type 2, Classic Type
Redundant neck skin, Excessive wrinkled skin, Inguinal hernia, Redundant skin, Low-set ears, Cong... ORPHA:357074
Fibrochondrogenesis 2
Bell-shaped thorax, Metaphyseal cupping, Hypoplastic pubic bone, Short ribs, Short long bone, Cup... OMIM:614524
Mucopolysaccharidosis, Type Ivb
Cervical myelopathy, Hyperlordosis, Kyphosis, Joint stiffness, Constricted iliac wing, Joint hype... OMIM:253010
Congenital Disorder Of Glycosylation, Type Iu
Death in infancy, Respiratory distress, Scoliosis, Congenital contracture OMIM:615042
Acropectorovertebral Dysplasia
Abnormal vertebral morphology, Spina bifida occulta at L5, Finger syndactyly, Synostosis of carpa... OMIM:102510
Alg8-Cdg
Premature skin wrinkling, Low-set ears, Camptodactyly, Cutis laxa, Brachydactyly, Macroglossia ORPHA:79325
Hydrocephalus-Costovertebral Dysplasia-Sprengel Anomaly Syndrome
Sandal gap, Abnormal form of the vertebral bodies, Scoliosis, Hemivertebrae, Low-set ears, Abnorm... ORPHA:2180
Mucopolysaccharidosis Type 4
Abnormal metaphysis morphology, Genu valgum, Reduced bone mineral density, Joint dislocation, Joi... ORPHA:582
Bohring-Opitz Syndrome
Sacral dimple, Joint dislocation, Dislocated radial head, Low-set ears, Camptodactyly, Prominent ... OMIM:605039
Holt-Oram Syndrome
Abnormal clavicle morphology, Triphalangeal thumb, Abnormal metacarpal morphology, Finger syndact... ORPHA:392
Achondrogenesis Type 1B
Narrow chest, Short thorax, Abnormal rib morphology, Abnormal enchondral ossification, Umbilical ... ORPHA:93298
Neurodevelopmental Disorder With Hypotonia, Facial Dysmorphism, And Brain Abnormalities
Respiratory distress, Pectus carinatum, Scoliosis, Delayed cranial suture closure, Low-set ears, ... OMIM:619383
Severe Congenital Nemaline Myopathy
Abnormality of the diaphragm, Thin ribs, Facial diplegia, Facial palsy, Low-set ears, Nemaline bo... ORPHA:171430
Ogden Syndrome
Redundant neck skin, Sandal gap, Redundant skin, Pectus excavatum, Cutis laxa, Dysphagia, Umbilic... OMIM:300855
Juberg-Hayward Syndrome
Hypoplasia of the radius, Abnormality of the wrist, Abnormal vertebral morphology, Abnormal metac... ORPHA:2319
Pelviscapular Dysplasia
Redundant neck skin, Abnormal pinna morphology, Abnormality of the joint spaces of the elbow, Elb... ORPHA:93333
Moebius Syndrome
Radial deviation of finger, Respiratory distress, Abnormal pinna morphology, Facial diplegia, Spl... OMIM:157900
Microphthalmia, Syndromic 3
Butterfly vertebrae, Sensorineural hearing impairment, Hemivertebrae, Vertebral hypoplasia, Bilat... OMIM:206900
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 3
Kyphoscoliosis, Osteopenia, Hyperextensible skin, Flat capital femoral epiphysis, Flared metaphys... OMIM:612350
Cardiac-Valvular Ehlers-Danlos Syndrome
Kyphoscoliosis, Hypermobility of distal interphalangeal joints, Sandal gap, Pectus excavatum, Lef... ORPHA:230851
Greenberg Dysplasia
Short ribs, Short long bone, Decreased skull ossification, Short metacarpal, Multiple prenatal fr... OMIM:215140
Brown-Vialetto-Van Laere Syndrome 1
Nocturnal hypoventilation, Death in childhood, Respiratory distress, Sensorineural hearing impair... OMIM:211530
Wolf-Hirschhorn Syndrome
Abnormal form of the vertebral bodies, Sensorineural hearing impairment, Abnormal pinna morpholog... OMIM:194190
Mitochondrial Myopathy With Reversible Cytochrome C Oxidase Deficiency
Increased muscle glycogen content, Respiratory distress, Ragged-red muscle fibers, Increased musc... ORPHA:254864
Spondylometaphyseal Dysplasia, A4 Type
Limitation of joint mobility, Coxa vara, Flared, irregular rib ends, Short palm, Platyspondyly ORPHA:168555
Thoracolaryngopelvic Dysplasia
Bell-shaped thorax, Hypoplastic iliac wing, Scoliosis, Short ribs, Irregular chondrocostal juncti... OMIM:187760
Fountain Syndrome
Hyperextensible skin, Abnormal metacarpal morphology, Spina bifida occulta, Abnormal form of the ... ORPHA:3219
Myhre Syndrome
Abnormal metaphysis morphology, Craniofacial hyperostosis, Inguinal hernia, Skeletal muscle hyper... ORPHA:2588
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 2
Skeletal muscle hypertrophy, Muscular dystrophy OMIM:613158
Mayer-Rokitansky-Küster-Hauser Syndrome Type 2
Hearing impairment, Short neck, Vertebral segmentation defect, Abnormal rib morphology ORPHA:2578
Mucopolysaccharidosis, Type Iiia
Dense calvaria, Inguinal hernia, Hyperactivity, Scoliosis, Hearing impairment, Joint stiffness, O... OMIM:252900
Acro-Renal-Mandibular Syndrome
Abnormal clavicle morphology, Butterfly vertebrae, Congenital diaphragmatic hernia, Hypoplasia of... ORPHA:958
Cartilage-Hair Hypoplasia
Abnormal bone ossification, Biconvex vertebral bodies, Abnormal hip bone morphology, Abnormal for... ORPHA:175
Shwachman-Diamond Syndrome 1
Narrow greater sciatic notch, Enlargement of the costochondral junction, Metaphyseal sclerosis, N... OMIM:260400
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 2
Hyperextensible skin, Postaxial hand polydactyly OMIM:615937
Menkes Disease
Death in childhood, Metaphyseal spurs, Osteoporosis, Cutis laxa, Metaphyseal widening, Wormian bo... OMIM:309400
Elastosis Perforans Serpiginosa
Cutis laxa ORPHA:79148
Gaucher Disease Type 2
Abnormal pattern of respiration, Flexion contracture, Dysphagia, Respiratory distress ORPHA:77260
Robinow Syndrome
Kyphoscoliosis, Mixed hearing impairment, Scoliosis, Hemivertebrae, Low-set ears, Missing ribs, R... ORPHA:97360
Emphysema, Congenital Lobar
Respiratory distress OMIM:130710
10Q22.3Q23.3 Microduplication Syndrome
Abnormal clavicle morphology, Chronic otitis media, Low-set ears, Abnormal rib morphology ORPHA:276422
Bone Dysplasia, Lethal Holmgren Type
Abnormal thumb morphology, Redundant neck skin, Abnormal femur morphology, Abnormal diaphysis mor... ORPHA:1842
Osteogenesis Imperfecta, Type Viii
Femoral bowing, Tibial bowing, Decreased skull ossification, Kyphosis, Short metacarpal, Multiple... OMIM:610915
Multiple Pterygium-Malignant Hyperthermia Syndrome
Inguinal hernia, Congenital muscular torticollis, Finger syndactyly, Scoliosis, Dyspnea, Pectus e... ORPHA:2215
Lenz-Majewski Hyperostotic Dwarfism
Redundant skin, Abnormal finger morphology, Kyphosis, Symphalangism affecting the phalanges of th... ORPHA:2658
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type
Osteopenia, Adducted thumb, Platyspondyly, Flared metaphysis, Short ribs, Low-set ears, Decreased... OMIM:616897
Thanatophoric Dysplasia, Type Ii
Platyspondyly, Narrow chest, Short greater sciatic notch, Flared metaphysis, Wide-cupped costocho... OMIM:187601
Kyphoscoliotic Ehlers-Danlos Syndrome Due To Lysyl Hydroxylase 1 Deficiency
Abnormal pinna morphology, Thoracic kyphoscoliosis, Pectus excavatum, Umbilical hernia, Joint hyp... ORPHA:1900
Multiple Pterygium Syndrome, X-Linked
Short finger, Multiple pterygia, Joint dislocation, Amyoplasia, Thin ribs, Low-set ears, Abnormal... OMIM:312150
Bardet-Biedl Syndrome 16
Hearing impairment, Polydactyly, Recurrent otitis media, Respiratory distress OMIM:615993
Pleural Mesothelioma
Dyspnea, Dysphagia, Abnormal thorax morphology, Respiratory distress ORPHA:50251
Ossification Anomalies-Psychomotor Developmental Delay Syndrome
Abnormal bone ossification, Generalized bone demineralization, Abnormal diaphysis morphology, Nar... ORPHA:73230
Costello Syndrome
Low-set, posteriorly rotated ears, Joint hypermobility, Redundant skin, Thickened Achilles tendon... ORPHA:3071
Leri Pleonosteosis
Abnormal metaphysis morphology, Cubitus valgus, Abnormal metacarpal morphology, Abnormal form of ... ORPHA:2900
Recombinant 8 Syndrome
Chronic otitis media, Clinodactyly of the 5th finger, Abnormal sternum morphology, Scoliosis, Red... ORPHA:96167
Dysosteosclerosis
Short ribs, Broad femoral neck, Hypoplastic vertebral bodies, Delayed closure of the anterior fon... OMIM:224300
Dystonia 31
Abnormal posturing, Dysphagia OMIM:619565
Wrinkly Skin Syndrome
Kyphoscoliosis, Osteopenia, Excessive wrinkled skin, Excessive skin wrinkling on dorsum of hands ... ORPHA:2834
Myhre Syndrome
Radial deviation of finger, Hypoplastic iliac wing, Microtia, Short long bone, Joint stiffness, G... OMIM:139210
Lipodystrophy, Congenital Generalized, Type 4
Osteopenia, Muscular dystrophy, Spinal rigidity, Skeletal muscle hypertrophy, Scoliosis, Hyperlor... OMIM:613327
Renal Hypodysplasia/Aplasia 2
Redundant skin OMIM:615721
Achondrogenesis, Type Ia
Hypoplastic sacrum, Broad clavicles, Abnormal hand bone ossification, Short ribs, Decreased skull... OMIM:200600
Craniometadiaphyseal Dysplasia
Osteopenia, Genu valgum, Cubitus valgus, Flared metaphysis, Wide anterior fontanel, Scoliosis, Lo... OMIM:269300
Hyperparathyroidism, Transient Neonatal
Osteopenia, Subperiosteal bone formation, Narrow chest, Inguinal hernia, Respiratory distress, Th... OMIM:618188
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Microdeletion
Large placenta, Redundant neck skin, Inguinal hernia, Prominent sternum, Wrist flexion contractur... ORPHA:254528
Hypogonadism, Male, With Mental Retardation And Skeletal Anomalies
Abnormality of the cervical spine, Superior rib anomalies OMIM:307500
Hypertrophic Osteoarthropathy, Primary, Autosomal Recessive, 1
Osteopenia, Long clavicles, Osteolytic defects of the phalanges of the hand, Arthritis, Arthropat... OMIM:259100
Poland Syndrome
Congenital diaphragmatic hernia, Aplasia of the pectoralis major muscle, Reduced bone mineral den... ORPHA:2911
Cleidocranial Dysplasia
Chronic otitis media, Decreased skull ossification, Abnormal epiphysis morphology, Abnormal sacru... ORPHA:1452
Corpus Callosum, Agenesis Of, With Facial Anomalies And Robin Sequence
Redundant neck skin, Proximal placement of thumb, Narrow chest, Tracheomalacia, Respiratory distr... OMIM:217980
Craniometadiaphyseal Dysplasia, Wormian Bone Type
Short tubular bones of the hand, Osteopenia, Abnormal diaphysis morphology, Increased bone minera... ORPHA:85184
Body Skin Hyperlaxity Due To Vitamin K-Dependent Coagulation Factor Deficiency
Cutis laxa, Redundant skin ORPHA:91135
Male Hypergonadotropic Hypogonadism-Intellectual Disability-Skeletal Anomalies Syndrome
Abnormal form of the vertebral bodies, Hemivertebrae, Abnormal rib morphology, Abnormality of the... ORPHA:2234
Blepharonasofacial Malformation Syndrome
Inguinal hernia, Finger syndactyly, Abnormal pinna morphology, Redundant skin, Hearing impairment... ORPHA:1252
Congenital Disorder Of Glycosylation, Type Iq
Cutis laxa, Low-set ears, Dry skin, Dysphagia OMIM:612379
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 1, With Or Without Fractures
Kyphoscoliosis, Broad distal phalanx of finger, Dislocated radial head, Short long bone, Large il... OMIM:271640
Auriculocondylar Syndrome 2A
Respiratory distress, Low-set ears, Hypoplastic superior helix, Cleft at the superior portion of ... OMIM:614669
Granulomatous Slack Skin
Cutis laxa, Redundant skin, Erythema ORPHA:33111
Lethal Kniest-Like Dysplasia
Abnormal ischium morphology, Narrow chest, Flared metaphysis, Wide anterior fontanel, Short ribs,... ORPHA:2347
Cranioectodermal Dysplasia 2
Polydactyly, Narrow chest, Inguinal hernia, Metopic synostosis, Short ribs, Low-set ears, Pectus ... OMIM:613610
Achondrogenesis Type 1A
Narrow chest, Short thorax, Recurrent fractures, Short foot, Abnormal enchondral ossification, Sh... ORPHA:93299
Brachytelephalangic Chondrodysplasia Punctata
Mixed hearing impairment, Short distal phalanx of toe, Short distal phalanx of finger, Butterfly ... ORPHA:79345
Diamond-Blackfan Anemia 10
Congenital diaphragmatic hernia, Respiratory distress, Morgagni diaphragmatic hernia, Microtia, L... OMIM:613309
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia
11 pairs of ribs, Metaphyseal cupping, Hypoplastic iliac wing, Thin ribs, Hypoplasia of the calca... OMIM:300863
Frontometaphyseal Dysplasia 1
Limited elbow movement, Cervical C2/C3 vertebral fusion, Dislocated radial head, Sensorineural he... OMIM:305620
Thin Ribs-Tubular Bones-Dysmorphism Syndrome
Abnormal pelvic girdle bone morphology, Low-set, posteriorly rotated ears, Abnormal rib morpholog... ORPHA:1506
Three M Syndrome 2
Slender long bone, Short thorax, Pectus carinatum, Thin ribs, Hyperlordosis, Scapular winging, Sh... OMIM:612921
Arthrochalasia Ehlers-Danlos Syndrome
Hyperextensible skin, Joint dislocation, Inguinal hernia, Scoliosis, Coxa vara, Joint stiffness, ... ORPHA:1899
Trichorhinophalangeal Syndrome Type 2
Genu valgum, Low-set, posteriorly rotated ears, Joint dislocation, Cone-shaped epiphyses of the p... ORPHA:502
Short Chain Acyl-Coa Dehydrogenase Deficiency
Myopathy, Respiratory distress ORPHA:26792
Microcephaly-Polymicrogyria-Corpus Callosum Agenesis Syndrome
Respiratory distress ORPHA:171703
Multiple Pterygium Syndrome, Lethal Type
Short finger, Multiple pterygia, Joint dislocation, Amyoplasia, Thin ribs, Low-set ears, Abnormal... OMIM:253290
Chronic Recurrent Multifocal Osteomyelitis 2, With Periostitis And Pustulosis
Periostitis, Osteopenia, Fused cervical vertebrae, Respiratory distress, Flaring of rib cage, Ost... OMIM:612852
Cleidocranial Dysplasia 1
Spondylolysis, Delayed pubic bone ossification, Spondylolisthesis, Cone-shaped epiphyses of the p... OMIM:119600
Dysmorphism-Cleft Palate-Loose Skin Syndrome
Redundant skin ORPHA:1779
Metaphyseal Dysostosis, Impaired Intellectual Development, And Conductive Deafness
Short ribs, Short long bone, Cupped ribs, Metaphyseal irregularity, Joint hypermobility, Genu var... OMIM:250420
Thanatophoric Dysplasia, Type I
Metaphyseal irregularity, Platyspondyly, Narrow chest, Short greater sciatic notch, Flared metaph... OMIM:187600
Trichorhinophalangeal Syndrome, Type Ii
Cone-shaped epiphyses of the phalanges of the hand, Pectus excavatum, Short metacarpal, Cutis lax... OMIM:150230
Cenani-Lenz Syndrome
Hypoplasia of the ulna, Hypoplasia of the radius, Abnormal metacarpal morphology, Abnormal form o... ORPHA:3258
Cutis Laxa, Autosomal Recessive, Type Ib
Congenital diaphragmatic hernia, Dermal translucency, Death in childhood, Inguinal hernia, Abnorm... OMIM:614437
Schinzel-Giedion Syndrome
Kyphoscoliosis, Stiff elbow, Tibial bowing, Dysphagia, Umbilical hernia, Short distal phalanx of ... ORPHA:798
Mosaic Trisomy 8
Clinodactyly of the 5th finger, Narrow chest, Abnormal antihelix morphology, Scoliosis, Vertebral... ORPHA:96061
Cardiomyopathy, Dilated, 1Gg
Left ventricular noncompaction, Respiratory distress OMIM:613642
Short-Rib Thoracic Dysplasia 11 With Or Without Polydactyly
Lateral clavicle hook, Bell-shaped thorax, Narrow chest, Short long bone, Postaxial polydactyly, ... OMIM:615633
Progressive Supranuclear Palsy-Parkinsonism Syndrome
Neuromuscular dysphagia, Axial muscle stiffness, Respiratory distress ORPHA:240085
Autosomal Dominant Centronuclear Myopathy
Proximal muscle weakness in upper limbs, Thin ribs, Calf muscle hypertrophy, Abnormality of the f... ORPHA:169189
Mucopolysaccharidosis Type 6
Chronic otitis media, Abnormal metaphysis morphology, Genu valgum, Kyphosis, Hearing impairment, ... ORPHA:583
Vacterl/Vater Association
Congenital diaphragmatic hernia, Occipital encephalocele, Anencephaly, Low-set, posteriorly rotat... ORPHA:887
Dystonia 1, Torsion, Autosomal Dominant
Abnormal posturing, Torticollis, Scoliosis, Hyperlordosis, Facial palsy, Kyphosis, Dysphagia, Mul... OMIM:128100
Cardiofaciocutaneous Syndrome
Genu valgum, Cubitus valgus, Low-set, posteriorly rotated ears, Excessive wrinkled skin, Hyperext... ORPHA:1340
Mucopolysaccharidosis, Type Iiid
Hyperactivity, Joint stiffness, Hypoplastic vertebral bodies, Dysphagia, Thickened ribs, Aggressi... OMIM:252940
Arterial Tortuosity Syndrome
Rocker bottom foot, Hyperextensible skin, Clinodactyly of the 5th finger, Inguinal hernia, Respir... ORPHA:3342
Coffin-Lowry Syndrome
Lumbar kyphosis, Inguinal hernia, Bifid sternum, Pectus carinatum, Scoliosis, Sensorineural heari... OMIM:303600
Osteogenesis Imperfecta, Type Ii
Absent ossification of calvaria, Bell-shaped thorax, Crumpled long bones, Recurrent fractures, Th... OMIM:166210
Cat-Eye Syndrome
Hearing impairment, Abnormal rib morphology, Hip dysplasia ORPHA:195
Elastoderma
Cutis laxa, Premature skin wrinkling ORPHA:228240
Microcephaly-Seizures-Intellectual Disability-Heart Disease Syndrome
Redundant neck skin, Respiratory distress, Abnormal sternum morphology, Short ribs, Postaxial han... ORPHA:2519
Cutis Laxa, Autosomal Recessive, Type Ic
Osteopenia, Death in childhood, Sandal gap, Tracheomalacia, Inguinal hernia, Morgagni diaphragmat... OMIM:613177
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 2
Muscular dystrophy, Spinal rigidity, Encephalocele, Skeletal muscle hypertrophy, Scoliosis, Conge... OMIM:613150
Mucopolysaccharidosis, Type Vii
Narrow greater sciatic notch, Pectus carinatum, Sensorineural hearing impairment, Large iliac win... OMIM:253220
Emanuel Syndrome
Kyphoscoliosis, Congenital diaphragmatic hernia, Redundant neck skin, Recurrent otitis media, Sac... ORPHA:96170
Congenital Osteogenesis Imperfecta-Microcephaly-Cataracts Syndrome
Low-set, posteriorly rotated ears, Abnormal rib morphology, Decreased calvarial ossification, Joi... ORPHA:2772
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy
Occipital encephalocele, Redundant neck skin, Short ribs, Abnormal 5th metacarpal morphology, Tho... ORPHA:397715
Spondylometaphyseal Dysplasia, 'Corner Fracture' Type
Abnormal bone ossification, Biconvex vertebral bodies, Reduced bone mineral density, Pectus carin... ORPHA:93315
X-Linked Centronuclear Myopathy
Respiratory distress, Necklace skeletal muscle fibers, Type 1 fibers relatively smaller than type... ORPHA:596
Lipodystrophy, Familial Partial, Type 4
Skeletal muscle hypertrophy, Miscarriage OMIM:613877
Autosomal Dominant Cutis Laxa
Osteopenia, Protruding ear, Redundant neck skin, Hyperextensible skin, Premature skin wrinkling, ... ORPHA:90348
Otopalatodigital Syndrome Type 2
Abnormal pinna morphology, Myelomeningocele, Flared iliac wing, Fibular aplasia, Tarsal synostosi... ORPHA:90652
Stuve-Wiedemann Syndrome 1
Flexion contracture of toe, Femoral bowing, Short long bone, Clubbing, Tibial bowing, Death in in... OMIM:601559
Combined Oxidative Phosphorylation Deficiency 30
Death in infancy, Sensorineural hearing impairment, Respiratory distress, Left ventricular hypert... OMIM:616974
Prune Belly Syndrome
Aplasia of the abdominal wall musculature, Scoliosis, Vertebral segmentation defect, Pectus excav... ORPHA:2970
Lethal Congenital Contracture Syndrome 10
Adducted thumb, Stiff neck, Torticollis, Narrow chest, Femoral bowing, Low-set ears, Short long b... OMIM:617022
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 5
Muscular dystrophy, Nocturnal hypoventilation, Calf muscle hypertrophy, Scoliosis, Hyperlordosis,... OMIM:607155
Osteogenesis Imperfecta, Type Xv
Platyspondyly, Scoliosis, Thin ribs, Joint hypermobility, Bowing of limbs due to multiple fractur... OMIM:615220
Congenital Diaphragmatic Hernia
Congenital diaphragmatic hernia, Aplasia/Hypoplasia of the diaphragm, Prominent sternum, Respirat... ORPHA:2140
Mucopolysaccharidosis, Type Vi
Kyphoscoliosis, Cervical myelopathy, Pectus carinatum, Hypoplastic iliac wing, Flared iliac wing,... OMIM:253200
Mucopolysaccharidosis, Type X
Beaking of vertebral bodies, Genu valgum, Spatulate ribs, Broad clavicles, Scoliosis, Hyperlordos... OMIM:619698
Rhizomelic Skeletal Dysplasia With Or Without Pelger-Huet Anomaly
Hyperlordosis, Femoral bowing, Short long bone, Kyphosis, Thoracic hypoplasia, Metaphyseal irregu... OMIM:618019
Huntington Disease-Like 1
Abnormal posturing, Abnormal shoulder morphology, Restlessness ORPHA:157941
Spondyloepimetaphyseal Dysplasia, Missouri Type
Limited elbow extension, Small epiphyses, Ulnar bowing, Pear-shaped vertebrae, Irregular scleroti... OMIM:602111
Pallister-Hall Syndrome
Mesoaxial polydactyly, Microtia, Oligodactyly, Broad thumb, Umbilical hernia, Polydactyly affecti... ORPHA:672
Carpenter Syndrome 2
Pectus carinatum, Sensorineural hearing impairment, Pectus excavatum, Cutis laxa, Broad thumb, Um... OMIM:614976
Myotonia Congenita, Autosomal Recessive
Skeletal muscle hypertrophy, Muscle hypertrophy of the lower extremities, Dysphagia OMIM:255700
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type
Hypoplastic iliac wing, Thin ribs, Abnormality of the calcaneus, Low-set ears, Death in infancy, ... ORPHA:163966
Craniosynostosis, Herrmann-Opitz Type
Abnormal antihelix morphology, Finger syndactyly, Microtia, Split hand, Abnormal rib morphology, ... ORPHA:2145
Satoyoshi Syndrome
Genu valgum, Osteolytic defects of the phalanges of the hand, Short metatarsal, Skeletal muscle h... OMIM:600705
Focal Facial Dermal Dysplasia Type Iii
Redundant skin, Abnormal sacroiliac joint morphology ORPHA:1807
Plectin-Related Limb-Girdle Muscular Dystrophy R17
Decreased cervical spine flexion due to contractures of posterior cervical muscles, Distal lower ... ORPHA:254361
Episodic Ataxia Type 1
Kyphoscoliosis, Scoliosis, Calf muscle hypertrophy, Respiratory distress ORPHA:37612
Cardiomyopathy-Hypotonia-Lactic Acidosis Syndrome
Myopathy, Respiratory distress ORPHA:91130
Neonatal Marfan Syndrome
Pectus carinatum, Enlarged thorax, Low-set ears, Cutis laxa, Arachnodactyly, Long fingers, Flexio... ORPHA:284979
Mucopolysaccharidosis, Type Iiic
Kyphoscoliosis, Beaking of vertebral bodies, Dense calvaria, Hyperactivity, Hearing impairment, J... OMIM:252930
Congenital Disorder Of Glycosylation, Type Ie
Muscular dystrophy, Ankle flexion contracture, Respiratory distress, Upper limb undergrowth, Camp... OMIM:608799
Congenital Hypothyroidism Due To Maternal Intake Of Antithyroid Drugs
Delayed epiphyseal ossification, Absent ossification of capital femoral epiphysis, Respiratory di... ORPHA:226313
Frank-Ter Haar Syndrome
Kyphoscoliosis, Redundant neck skin, Broad clavicles, Short long bone, Pectus excavatum, Kyphosis... OMIM:249420
Lethal Congenital Contracture Syndrome 1
Widening of cervical spinal canal, Hypoplasia of the musculature, Neonatal death, Skeletal muscle... OMIM:253310
Multinucleated Neurons, Anhydramnios, Renal Dysplasia, Cerebellar Hypoplasia, And Hydranencephaly
Stillbirth, Redundant neck skin, Clinodactyly of the 5th finger, Hydranencephaly, 2-3 toe syndact... OMIM:236500
Acrocapitofemoral Dysplasia
Cone-shaped epiphyses of the phalanges of the hand, Pectus carinatum, Delayed ossification of car... OMIM:607778
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome
Kyphoscoliosis, Hyperextensible hand joints, Joint hypermobility, Slender long bone, Hemivertebra... ORPHA:500150
Fibrinolytic Defect
Hyperextensible skin OMIM:134900
Osteoglophonic Dysplasia
Pectus excavatum, Broad metatarsal, Short metacarpal, Broad thumb, Craniosynostosis, Inguinal her... OMIM:166250
Congenital Disorder Of Glycosylation, Type Ig
Butterfly vertebrae, Hypoplasia of the radius, Sandal gap, Respiratory distress, Sensorineural he... OMIM:607143
Trisomy 13
Narrow chest, Abnormal antihelix morphology, Sensorineural hearing impairment, Scoliosis, Abnorma... ORPHA:3378
Kagami-Ogata Syndrome
Kyphoscoliosis, Long clavicles, Bell-shaped thorax, Inguinal hernia, Thin ribs, Microtia, Diastas... OMIM:608149
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies
Chronic otitis media, Scaling skin, Multiple joint dislocation, Hyperlordosis, Internally rotated... OMIM:619503
Cardiac Valvular Dysplasia, X-Linked
Cutis laxa, Joint stiffness, Joint hypermobility OMIM:314400
Osteogenesis Imperfecta, Type Xviii
Vertebral compression fracture, Thin ribs, Femoral bowing, Bowing of the long bones, Biconcave ve... OMIM:617952
Vertebral Hypersegmentation And Orofacial Anomalies
Darwin tubercle of helix, Inguinal hernia, Scapular winging, Pectus excavatum, Six lumbar vertebr... OMIM:619122
Mucopolysaccharidosis, Type Iiib
Dense calvaria, Hyperactivity, Hearing impairment, Joint stiffness, Ovoid thoracolumbar vertebrae... OMIM:252920
Cutis Laxa, Autosomal Recessive, Type Iid
Kyphoscoliosis, Inguinal hernia, Redundant skin, Low-set ears, Camptodactyly, Cutis laxa, Macroti... OMIM:617403
Osteogenesis Imperfecta, Type Xvi
Osteopenia, Vertebral compression fracture, Narrow chest, Angulated humerus, Wormian bones, Short... OMIM:616229
C Syndrome
Congenital diaphragmatic hernia, Sacral dimple, Clinodactyly of the 5th finger, Low-set, posterio... ORPHA:1308
Radio-Renal Syndrome
Hypoplasia of the radius, Abnormal form of the vertebral bodies, Respiratory distress, Dyspnea, A... ORPHA:3015
Cranioectodermal Dysplasia 3
Sandal gap, Narrow chest, 2-3 toe syndactyly, Dry skin, Cutis laxa, Postaxial polydactyly, 2-4 to... OMIM:614099
Opsismodysplasia
Short long bone, Flat acetabular roof, Short metacarpal, Hypoplastic ischia, Hypoplastic vertebra... OMIM:258480
Ehlers-Danlos Syndrome, Classic Type, 1
Hyperextensible skin, Joint dislocation, Inguinal hernia, Hyperextensibility of the finger joints... OMIM:130000
Kagami-Ogata Syndrome
Kyphoscoliosis, Large placenta, Bell-shaped thorax, Inguinal hernia, Microtia, Diastasis recti, L... ORPHA:254519
Oculocerebrocutaneous Syndrome
Congenital diaphragmatic hernia, Finger syndactyly, Abnormal pinna morphology, Missing ribs, Abno... ORPHA:1647
Microcephalic Primordial Dwarfism, Toriello Type
Abnormal epiphysis morphology, Brachydactyly, Abnormal rib morphology ORPHA:2643
Atelosteogenesis, Type I
Clubbing, Tibial bowing, Short metacarpal, Short humerus, Thoracic hypoplasia, Thoracic platyspon... OMIM:108720
Cole-Carpenter Syndrome
Abnormal metaphysis morphology, Crumpled long bones, Abnormal form of the vertebral bodies, Scoli... ORPHA:2050
Acromesomelic Dysplasia 4
Sandal gap, Short metacarpal, Metaphyseal irregularity, Prominent deltoid tuberosities, Umbilical... OMIM:619636
Immunodeficiency 49
Wormian bones, Cutis laxa, Posteriorly rotated ears, Umbilical hernia OMIM:617237
Macular Degeneration, Age-Related, 3
Joint hypermobility, Distal amyotrophy, Hyperextensible skin OMIM:608895
Mucopolysaccharidosis-Plus Syndrome
Death in childhood, Respiratory distress, Pectus carinatum, Clubbing, Pectus excavatum, Flared il... OMIM:617303
Acetazolamide-Responsive Myotonia
Skeletal muscle hypertrophy, Dysphagia ORPHA:99736
Mucopolysaccharidosis Type 3
Chronic otitis media, Mixed hearing impairment, Reduced bone mineral density, Abnormal form of th... ORPHA:581
Kyphoscoliotic Ehlers-Danlos Syndrome
Kyphoscoliosis, Pectus carinatum, Sensorineural hearing impairment, Pectus excavatum, Arachnodact... ORPHA:536545
Hurler Syndrome
Abnormal clavicle morphology, Abnormal vertebral morphology, Abnormal diaphysis morphology, Scoli... ORPHA:93473
Marfanoid Habitus-Autosomal Recessive Intellectual Disability Syndrome
Osteopenia, Abnormal bone ossification, Thin metacarpal cortices, Lumbar hemivertebrae, Slender l... ORPHA:2463
Spondylometaepiphyseal Dysplasia, Short Limb-Hand Type
Pectus carinatum, Triangular shaped distal phalanges of the hand, Short ribs, Short long bone, Pe... OMIM:271665
Pierre Robin Sequence With Pectus Excavatum And Rib And Scapular Anomalies
Hypoplastic distal segments of scapulae, Joint hypermobility, Pectus excavatum, Abnormal rib morp... OMIM:602196
Brody Disease
Skeletal muscle hypertrophy, Flexion contracture OMIM:601003
Growth Delay-Hydrocephaly-Lung Hypoplasia Syndrome
Abnormal fibula morphology, Tibial bowing, Bowing of the long bones, Abnormally ossified vertebra... ORPHA:3035
Spondyloepimetaphyseal Dysplasia, Shohat Type
Generalized bone demineralization, Hyperlordosis, Short long bone, Thoracic hypoplasia, Metaphyse... ORPHA:93352
Ichthyosis-Alopecia-Eclabion-Ectropion-Intellectual Disability Syndrome
Scaling skin, Cutis laxa, Dry skin ORPHA:2269
Myotonia, Potassium-Aggravated
Skeletal muscle hypertrophy, Apneic episodes in infancy, Skeletal muscle atrophy OMIM:608390
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency
Rocker bottom foot, Abnormal earlobe morphology, Proximal tibial and fibular fusion, Abnormal pin... ORPHA:95699
Acrofrontofacionasal Dysostosis 2
Redundant neck skin, Sacral dimple, Wide anterior fontanel, Low-set ears, Broad thumb, Hand polyd... OMIM:239710
Hyperkalemic Periodic Paralysis
Death in early adulthood, Skeletal muscle hypertrophy, Death in infancy, Flexion contracture, Ske... ORPHA:682
Specific Granule Deficiency 2
Osteopenia, Recurrent otitis media, Hyperextensible skin, Death in childhood, Sandal gap, Abnorma... OMIM:617475
Holzgreve Syndrome
Low-set, posteriorly rotated ears, Abnormal metacarpal morphology, Abnormally ossified vertebrae,... ORPHA:2167
Immunodeficiency 95
Respiratory distress OMIM:619773
Mgat2-Cdg
Osteopenia, Abnormal earlobe morphology, Low-set, posteriorly rotated ears, Respiratory distress,... ORPHA:79329
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Hypermethylation
Large placenta, Diastasis recti, Omphalocele, Coat hanger sign of ribs, Thoracic hypoplasia, Umbi... ORPHA:254534
Acrorenal-Mandibular Syndrome
Kyphoscoliosis, Congenital diaphragmatic hernia, Split foot, Hip dislocation, Hypoplasia of the u... OMIM:200980
Peroxisome Biogenesis Disorder 1A (Zellweger)
Rocker bottom foot, Redundant neck skin, Death in childhood, Cubitus valgus, Bell-shaped thorax, ... OMIM:214100
Antley-Bixler Syndrome
Low-set, posteriorly rotated ears, Narrow chest, Delayed cranial suture closure, Femoral bowing, ... ORPHA:83
Ehlers-Danlos Syndrome, Cardiac Valvular Type
Hyperextensible skin, Inguinal hernia, Genu recurvatum, Calcaneovalgus deformity, Pectus excavatu... OMIM:225320
Gaucher Disease, Perinatal Lethal
Purpura, Respiratory distress, Petechiae, Microtia, Low-set ears, Neonatal death, Apnea, Thoracic... OMIM:608013
Hypophosphatasia
Abnormal metaphysis morphology, Narrow chest, Bowing of the long bones, Abnormal rib morphology, ... ORPHA:436
Short Stature, Optic Nerve Atrophy, And Pelger-Huet Anomaly
Sandal gap, Cutis laxa, Broad hallux, Syndactyly, Brachydactyly, Short neck OMIM:614800
Trisomy 1Q
Congenital diaphragmatic hernia, Short thorax, Low-set ears, Abnormal rib morphology, Omphalocele... ORPHA:261344
Monosomy 9Q22.3
Polydactyly, Thickened ears, Rhabdomyosarcoma, Abnormality of the vertebral column, Hyperactivity... ORPHA:77301
Viss Syndrome
Rocker bottom foot, Recurrent joint dislocation, Pectus carinatum, Pectus excavatum, Kyphosis, Cu... OMIM:619472
Paramyotonia Congenita
Skeletal muscle hypertrophy OMIM:168300
Gapo Syndrome
Abnormal clavicle morphology, Abnormal metaphysis morphology, Hyperextensible skin, Asymmetry of ... ORPHA:2067
Bent Bone Dysplasia Syndrome 2
Osteopenia, Butterfly vertebrae, Short 1st metacarpal, Ulnar bowing, Bowed humerus, Hypoplastic a... OMIM:620076
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 1
Dislocated radial head, Pectus carinatum, Arachnodactyly, Joint hypermobility, Craniosynostosis, ... OMIM:130070
Familial Osteodysplasia, Anderson Type
Aplasia/hypoplasia of the femur, Clinodactyly of the 5th finger, Abnormal earlobe morphology, Abn... ORPHA:2769
Alg12-Cdg
Abnormal bone ossification, Clinodactyly of the 5th finger, Proximal placement of thumb, Sandal g... ORPHA:79324
Camptodactyly Syndrome, Guadalajara Type 3
Osteopenia, Spina bifida occulta, Abnormal pinna morphology, Abnormal rib morphology, Sternocleid... ORPHA:488434
Short Stature-Micrognathia Syndrome
Skeletal muscle hypertrophy, 2-3 toe syndactyly, Broad femoral neck, Metaphyseal widening, Joint ... OMIM:617164
Achondrogenesis, Type Ii
Short tubular bones of the hand, Stillbirth, Barrel-shaped chest, Hypoplastic iliac wing, Short r... OMIM:200610
Cole-Carpenter Syndrome 2
Osteopenia, Lambdoidal craniosynostosis, Platyspondyly, Thin ribs, Narrow iliac wing, Pectus exca... OMIM:616294
Occipital Horn Syndrome
Pectus carinatum, Large iliac wing, Pectus excavatum, Kyphosis, Absent tibia, Dysphagia, Aplasia/... ORPHA:198
Alagille Syndrome
Hypoplasia of the ulna, Clinodactyly of the 5th finger, Spina bifida occulta, Butterfly vertebral... ORPHA:52
Pyknoachondrogenesis
Short iliac bones, Craniofacial hyperostosis, Short thorax, Abnormal iliac wing morphology, Muscu... ORPHA:3003
Dermatosparaxis Ehlers-Danlos Syndrome
Rickets, Osteopenia, Excessive wrinkled skin, Hyperextensible skin, Joint dislocation, Inguinal h... ORPHA:1901
Fontaine Progeroid Syndrome
Premature skin wrinkling, Hypoplasia of the abdominal wall musculature, Scoliosis, Redundant skin... OMIM:612289
Cantú Syndrome
Abnormal metaphysis morphology, Narrow chest, Short hallux, Finger syndactyly, Osteoporosis, Umbi... ORPHA:1517
Classical-Like Ehlers-Danlos Syndrome Type 1
Joint hypermobility, Hyperextensible skin, Skeletal muscle atrophy, Spina bifida occulta ORPHA:230839
Lissencephaly Syndrome, Norman-Roberts Type
Rocker bottom foot, Respiratory distress, Low-set ears, Dysphagia, Adducted thumb ORPHA:89844
Coenzyme Q10 Deficiency, Primary, 8
Hearing impairment, Respiratory distress, Flexion contracture, Left ventricular hypertrophy OMIM:616733
Ehlers-Danlos Syndrome, Hypermobility Type
Hyperextensible skin, Joint dislocation, Osteoarthritis, Joint hypermobility, Soft skin, Striae d... OMIM:130020
Chromosome 18P Deletion Syndrome
Hypomimic face, Redundant neck skin, Radial deviation of finger, Clinodactyly of the 5th finger, ... OMIM:146390
Mullerian Duct Aplasia, Unilateral Renal Agenesis, And Cervicothoracic Somite Anomalies
Conductive hearing impairment, Sprengel anomaly, Abnormal rib morphology, Abnormality of the vert... OMIM:601076
Van Den Ende-Gupta Syndrome
Dislocated radial head, Small earlobe, Short ribs, Femoral bowing, Pectus excavatum, Arachnodacty... OMIM:600920
Osteopathia Striata With Cranial Sclerosis
Flexion contracture of toe, Microtia, Pectus excavatum, Arachnodactyly, Craniofacial osteoscleros... OMIM:300373
Garg-Mishra Progeroid Syndrome
Narrow chest, Slender long bone, Thin ribs, Persistent open anterior fontanelle, Ovoid vertebral ... OMIM:620601
Multiple Synostoses Syndrome 1
Proximal/middle symphalangism of 5th toe, Radial deviation of finger, Dislocated radial head, Pec... OMIM:186500
Ear-Patella-Short Stature Syndrome
Clinodactyly of the 5th finger, Slender long bone, Respiratory distress, Microtia, third degree, ... ORPHA:2554
Spinocerebellar Ataxia-Dysmorphism Syndrome
Reduced bone mineral density, Hyperextensible skin, Cubitus valgus, Low-set, posteriorly rotated ... ORPHA:1185
Farber Disease
Short finger, Abnormality of the wrist, Respiratory distress, Abnormal sternum morphology, Arthri... ORPHA:333
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins
Butterfly vertebrae, Low-set ears, Diastasis recti, Omphalocele, Neonatal death, Posterior rib fu... OMIM:265380
Fibrous Dysplasia Of Bone
Abnormal femur morphology, Pathologic fracture, Osteolysis, Abnormal clavicle morphology, Rickets... ORPHA:249
Zaki Syndrome
Congenital diaphragmatic hernia, Sacral dimple, Hyperextensible skin, Broad distal phalanx of fin... OMIM:619648
Gm1-Gangliosidosis, Type I
Beaking of vertebral bodies, Inguinal hernia, Scoliosis, Kyphosis, Death in infancy, Joint stiffn... OMIM:230500
Microlissencephaly-Micromelia Syndrome
Short neck, Adducted thumb, 11 pairs of ribs, Respiratory distress ORPHA:50810
Nestor-Guillermo Progeria Syndrome
Limited elbow movement, Thin ribs, Scoliosis, Osteolytic defects of the distal phalanges of the h... OMIM:614008
Mucolipidosis Iii Alpha/Beta
Carpal bone hypoplasia, Spondylolisthesis, Inguinal hernia, Scoliosis, Short ribs, Short long bon... OMIM:252600
Osteogenesis Imperfecta, Type Vii
Osteopenia, Narrow chest, Vertebral compression fracture, Crumpled long bones, Wide anterior font... OMIM:610682
Lethal Congenital Contracture Syndrome 5
Thin ribs, Death in infancy, Congenital contracture, Centrally nucleated skeletal muscle fibers, ... OMIM:615368
Combined Oxidative Phosphorylation Deficiency 2
Redundant neck skin, Neonatal death, Low-set ears, Brachydactyly OMIM:610498
Gm1 Gangliosidosis Type 1
Beaking of vertebral bodies T12-L3, Platyspondyly, Spatulate ribs, Pectus carinatum, Broad long b... ORPHA:79255
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome
Pectus excavatum, Broad thumb, Short 5th finger, Overlapping toe, Hip dislocation, Hearing impair... ORPHA:508498
Short-Rib Thoracic Dysplasia 20 With Polydactyly
Lateral clavicle hook, Narrow greater sciatic notch, Fibular hypoplasia, Preaxial polydactyly, Na... OMIM:617925
Laryngotracheoesophageal Cleft Type 4
Abnormal rib morphology, Abnormal form of the vertebral bodies ORPHA:93941
Short-Rib Thoracic Dysplasia 12
Anencephaly, Abnormal pinna morphology, Short ribs, Short long bone, Short finger, Inguinal herni... OMIM:269860
Simpson-Golabi-Behmel Syndrome
Congenital diaphragmatic hernia, Pectus excavatum, Death in infancy, Broad thumb, Umbilical herni... ORPHA:373
Alpha-Mannosidosis, Infantile Form
Mixed hearing impairment, Pectus carinatum, Sensorineural hearing impairment, Pectus excavatum, J... ORPHA:309282
Muscular Dystrophy, Congenital, With Or Without Seizures
Hypoglycosylation of alpha-dystroglycan, Progressive hearing impairment, Dysphagia, Respiratory d... OMIM:620166
Noonan Syndrome 8
Hyperextensible skin, Abnormal sternum morphology, Low-set ears, Left ventricular hypertrophy, Sh... OMIM:615355
Chitayat Syndrome
Respiratory distress, Tracheomalacia, Pectus excavatum, Brachydactyly, Hallux valgus OMIM:617180
Sclerosteosis 1