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
Knee flexion contracture, Hip contracture, Congenital foot contractures, Narrow pelvis bone, Para... OMIM:602484
Poland Syndrome
Unilateral oligodactyly, Short ribs, Unilateral hypoplasia of pectoralis major muscle, Unilateral... OMIM:173800
Myopathy, X-Linked, With Postural Muscle Atrophy
Respiratory insufficiency, Increased variability in muscle fiber diameter, Back pain, Spinal rigi... OMIM:300696
Autosomal Recessive Spondylocostal Dysostosis
Camptodactyly of finger, Meningocele, Umbilical hernia, Short thorax, Respiratory insufficiency, ... ORPHA:2311
Spondylocostal Dysostosis 3, Autosomal Recessive
Kyphosis, Vertebral segmentation defect, Hypoplasia of the odontoid process, Supernumerary verteb... OMIM:609813
Spondylocostal Dysostosis 2, Autosomal Recessive
Vertebral clefting, Vertebral segmentation defect, Short neck, Rib fusion, Restrictive ventilator... OMIM:608681
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 27
Knee flexion contracture, Increased variability in muscle fiber diameter, Spinal rigidity, Muscul... OMIM:619566
Spondylocostal Dysostosis 1, Autosomal Recessive
Back pain, Vertebral fusion, Block vertebrae, Death in infancy, Vertebral segmentation defect, Ky... OMIM:277300
Becker Nevus Syndrome
Kyphosis, Supernumerary ribs, Pectus excavatum, Spina bifida occulta, Abnormality of tibia morpho... ORPHA:64755
Cutis Laxa, Autosomal Recessive, Type Iie
Genu varum, Short thorax, Cutis laxa, Hip dislocation, Joint laxity, Clinodactyly of the 5th fing... OMIM:619451
Femoral-Facial Syndrome
Aplasia/Hypoplasia of the tibia, Coxa vara, Microtia, Vertebral segmentation defect, Hip dysplasi... ORPHA:1988
Radioulnar Synostosis-Microcephaly-Scoliosis Syndrome
Abnormality of the elbow, Finger syndactyly, Radioulnar synostosis, Clinodactyly of the 5th finge... ORPHA:3268
Autosomal Dominant Spondylocostal Dysostosis
Hyperlordosis, Short thorax, Vertebral segmentation defect, Missing ribs, Posterior rib fusion, A... ORPHA:1797
Richieri Costa-Da Silva Syndrome
Genu valgum, Joint dislocation, Generalized bone demineralization, Decreased muscle mass, Diastas... ORPHA:3101
Congenital Myopathy 10A, Severe Variant
Camptodactyly of finger, Increased variability in muscle fiber diameter, Respiratory insufficienc... OMIM:614399
Congenital Muscular Dystrophy With Intellectual Disability
Respiratory insufficiency, Limb-girdle muscle weakness, Multiple joint contractures, Neuropathic ... ORPHA:370968
Spondylocostal Dysostosis 4, Autosomal Recessive
Bell-shaped thorax, Vertebral fusion, Short thorax, Myelomeningocele, Block vertebrae, Vertebral ... OMIM:613686
Cerebrofaciothoracic Dysplasia
Bifid ribs, Narrow chest, Vertebral segmentation defect, Sprengel anomaly, Short neck, Rib fusion... ORPHA:1394
Stuve-Wiedemann Syndrome 2
Pulmonary arterial hypertension, Thoracic hypoplasia, Short long bone, Camptodactyly, Respiratory... OMIM:619751
Metatropic Dysplasia
Respiratory insufficiency, Flexion contracture, Flared iliac wing, Long coccyx, Enlarged joints, ... OMIM:156530
Multiple Pterygium Syndrome, Escobar Variant
Neck pterygia, Conductive hearing impairment, Flexion contracture, Multiple joint contractures, A... OMIM:265000
Schwartz-Jampel Syndrome, Type 1
Wrist flexion contracture, Coxa valga, Short neck, Skeletal muscle hypertrophy, Flexion contractu... OMIM:255800
Myotonia With Skeletal Abnormalities And Mental Retardation
Bell-shaped thorax, Genu valgum, Firm muscles, Vertebral wedging, Kyphoscoliosis, Skeletal muscle... OMIM:255710
Anauxetic Dysplasia 3
Hip subluxation, Genu valgum, Metaphyseal cupping, Wide anterior fontanel, Short metacarpal, Cuti... OMIM:618853
Neurogenic Thoracic Outlet Syndrome
Abnormal rib morphology ORPHA:100073
Cutis Laxa, Autosomal Recessive, Type Iiia
Distal amyotrophy, Macrotia, Hyperextensible skin, Cutis laxa, Hip dislocation, Joint hypermobili... OMIM:219150
Spondylocostal Dysostosis 5
Vertebral fusion, Low back pain, Supernumerary ribs, Missing ribs, Butterfly vertebrae, Posterior... OMIM:122600
Craniofacial Dysmorphism, Skeletal Anomalies, And Impaired Intellectual Development Syndrome 1
Recurrent sinusitis, Pectus excavatum, Overlapping toe, Short neck, Postaxial hand polydactyly, B... OMIM:213980
Endosteal Hyperostosis, Worth Type
Sensorineural hearing impairment, Abnormal cortical bone morphology, Craniofacial hyperostosis, G... ORPHA:2790
Basal Cell Nevus Syndrome 1
Bifid ribs, Polydactyly, Vertebral fusion, Abnormal sternum morphology, Short 4th metacarpal, Sho... OMIM:109400
Autosomal Recessive Multiple Pterygium Syndrome
Camptodactyly of finger, Conductive hearing impairment, Pectus excavatum, Spina bifida occulta, A... ORPHA:2990
Infantile-Onset X-Linked Spinal Muscular Atrophy
Knee flexion contracture, Respiratory insufficiency, Hip contracture, Spinal muscular atrophy, Sh... ORPHA:1145
Diastrophic Dysplasia
Camptodactyly of finger, Respiratory insufficiency, Increased bone mineral density, Elbow disloca... ORPHA:628
Pontine Tegmental Cap Dysplasia
Ankle clonus, Sensorineural hearing impairment, Aspiration, Rib fusion, Scoliosis, Head titubatio... OMIM:614688
Muscular Dystrophy, Congenital, 1B
Spinal rigidity, Achilles tendon contracture, Congenital muscular dystrophy, Generalized muscle h... OMIM:604801
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 4
Hyperlordosis, Flexion contracture, Muscular dystrophy, Pectus excavatum, Skeletal muscle hypertr... OMIM:611588
Congenital Disorder Of Glycosylation, Type Iig
Conductive hearing impairment, Butterfly vertebrae, Camptodactyly, Cholesteatoma, Short neck, Pos... OMIM:611209
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 2
Respiratory insufficiency, Advanced ossification of carpal bones, Hip dislocation, Pectus excavat... OMIM:615349
Metatropic Dysplasia
Camptodactyly of finger, Abnormal enchondral ossification, Kyphosis, Narrow chest, Halberd-shaped... ORPHA:2635
Diaphanospondylodysostosis
Absent or minimally ossified vertebral bodies, Short thorax, Myelomeningocele, Enlarged thorax, M... ORPHA:66637
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects
Shoulder dislocation, Spatulate thumbs, Hallux valgus, Elbow flexion contracture, Hip dislocation... OMIM:245600
Spondyloepimetaphyseal Dysplasia With Joint Laxity
Elbow flexion contracture, Hip dislocation, Dislocated radial head, Limited elbow extension, Abno... ORPHA:93359
Perching Syndrome
Camptodactyly, Respiratory distress, Scoliosis, Dysphagia, Joint contracture OMIM:617055
Thanatophoric Dysplasia
Respiratory insufficiency, Short thorax, Kyphosis, Abnormal metaphysis morphology, Narrow chest, ... ORPHA:2655
Scarf Syndrome
Short sternum, Umbilical hernia, Diastasis recti, Cutis laxa, Inguinal hernia, Short neck, Joint ... ORPHA:3134
Robinow Syndrome, Autosomal Recessive 1
Delayed cranial suture closure, Pectus excavatum, Dislocated radial head, Short neck, Radial devi... OMIM:268310
Weaver Syndrome
Camptodactyly of finger, Macrotia, Finger syndactyly, Inguinal hernia, Redundant skin, Broad thum... ORPHA:3447
Pomt1-Related Limb-Girdle Muscular Dystrophy R11
Increased variability in muscle fiber diameter, Limb-girdle muscle weakness, Centrally nucleated ... ORPHA:86812
Myopathy, Centronuclear, 1
Hyperlordosis, Flexion contracture, Centrally nucleated skeletal muscle fibers, Facial palsy, EMG... OMIM:160150
Scarf Syndrome
Short sternum, Diastasis recti, Cutis laxa, Coronal craniosynostosis, Barrel-shaped chest, Inguin... OMIM:312830
Fetal Akinesia Deformation Sequence 4
11 pairs of ribs, Prenatal death, Kyphosis, Camptodactyly, Short neck, Skeletal muscle atrophy, R... OMIM:618393
Imperforate Oropharynx-Costovertebral Anomalies Syndrome
Respiratory failure, Missing ribs, Clinodactyly of the 5th finger, Abnormal antitragus morphology... ORPHA:2759
Thanatophoric Dysplasia Type 1
Respiratory insufficiency, Hypoplastic ilia, Kyphosis, Short greater sciatic notch, Wide anterior... ORPHA:1860
Spondylometaphyseal Dysplasia, Type A4
Metaphyseal irregularity, Enlargement of the costochondral junction, Sclerotic humeral metaphysis... OMIM:609052
Thanatophoric Dysplasia Type 2
Respiratory insufficiency, Short thorax, Encephalocele, Kyphosis, Limitation of joint mobility, B... ORPHA:93274
Myopathic Ehlers-Danlos Syndrome
Foot joint contracture, Flexion contracture, Tapered finger, Multiple joint contractures, Patella... ORPHA:536516
Spondylodysplastic Ehlers-Danlos Syndrome
Respiratory insufficiency, Flexion contracture, Patellar dislocation, Hallux valgus, Multiple joi... ORPHA:536471
Isolated Klippel-Feil Syndrome
Spina bifida, Abnormal sacrum morphology, Abnormal vertebral segmentation and fusion, Hearing imp... ORPHA:2345
Aicardi Syndrome
Bifid ribs, Small hand, Block vertebrae, Hip dysplasia, Supernumerary ribs, Missing ribs, Butterf... ORPHA:50
Uruguay Faciocardiomusculoskeletal Syndrome
Limited elbow movement, Kyphosis, Joint contracture of the hand, Hallux valgus, Dislocation of to... OMIM:300280
Aicardi Syndrome
Bifid ribs, Block vertebrae, Spina bifida, Supernumerary ribs, Missing ribs, Butterfly vertebrae,... OMIM:304050
Ehlers-Danlos Syndrome, Classic-Like, 2
Shoulder dislocation, Macrotia, Hyperextensible skin, Hallux valgus, Generalized joint laxity, Fa... OMIM:618000
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14
Short tibia, Spinal dysraphism, Coxa valga, Flexion contracture, Thoracic hypoplasia, Epiphyseal ... ORPHA:96334
Weaver Syndrome
Coxa valga, Camptodactyly, Metatarsus adductus, Overlapping toe, Radial deviation of finger, Limi... OMIM:277590
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 2
Respiratory insufficiency, Hyperlordosis, Flexion contracture, Muscular dystrophy, Congenital mus... OMIM:613156
Heart Defects-Limb Shortening Syndrome
Kyphosis, Death in infancy, Narrow chest, Abnormal rib morphology, Abnormal metaphysis morphology... ORPHA:1354
Proximal 16P11.2 Microdeletion Syndrome
Conductive hearing impairment, Sensorineural hearing impairment, Hand polydactyly, Abnormal verte... ORPHA:261197
Hypo- And Hypermelanotic Cutaneous Macules-Retarded Growth-Intellectual Disability Syndrome
Abnormal rib morphology ORPHA:2435
Neurogenic Arthrogryposis Multiplex Congenita
Knee flexion contracture, Wrist flexion contracture, Flexion contracture, Hip contracture, Lower ... ORPHA:1143
Platyspondylic Lethal Skeletal Dysplasia, Torrance Type
Dumbbell-shaped long bone, Thoracic hypoplasia, Severe platyspondyly, Short neck, Ovoid vertebral... OMIM:151210
Cutis Laxa, Autosomal Recessive, Type Iib
Lack of skin elasticity, Decreased muscle mass, Joint hypermobility, Wormian bones, Congenital hi... OMIM:612940
Cooper-Jabs Syndrome
Camptodactyly of finger, Reduced bone mineral density, Respiratory insufficiency, Conductive hear... ORPHA:1488
Odontochondrodysplasia 1
Short phalanx of finger, Flared iliac wing, Genu recurvatum, Respiratory distress, Platyspondyly,... OMIM:184260
Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans
Central apnea, Pulmonary arterial hypertension, Respiratory failure, Palmoplantar cutis laxa, Wid... OMIM:616482
Geroderma Osteodysplastica
Biconcave vertebral bodies, Hyperextensible skin, Abnormal bone ossification, Recurrent fractures... ORPHA:2078
Mitochondrial Dna Depletion Syndrome, Myopathic Form
Respiratory insufficiency, Infantile sensorineural hearing impairment, Respiratory failure, Spina... ORPHA:254875
Kniest Dysplasia
Conductive hearing impairment, Dumbbell-shaped long bone, Hip dislocation, Pectus excavatum, Shor... OMIM:156550
Man1B1-Cdg
2-3 toe syndactyly, Macrotia, Cutis laxa, Clinodactyly of the 5th finger, Joint hypermobility, Sh... ORPHA:397941
Sprengel Deformity
Neck muscle hypoplasia, Rib segmentation abnormalities, Spina bifida occulta, Cervical segmentati... OMIM:184400
Cranioectodermal Dysplasia 4
Sagittal craniosynostosis, Decreased nasal nitric oxide, Cutis laxa, Cutaneous finger syndactyly,... OMIM:614378
Charcot-Marie-Tooth Disease, Demyelinating, Type 1H
Distal upper limb amyotrophy, Hyperextensible skin, Distal lower limb muscle weakness, Distal low... OMIM:619764
Arterial Tortuosity Syndrome
Macrotia, Flexion contracture, Hyperextensible skin, Cutis laxa, Joint laxity, Pectus excavatum, ... OMIM:208050
Rafiq Syndrome
Macrotia, Flexion contracture, Cutis laxa, Clinodactyly of the 5th finger, Joint laxity, Joint hy... OMIM:614202
Schwartz-Jampel Syndrome
Metatarsus valgus, Wrist flexion contracture, Respiratory insufficiency, Coxa valga, Increased bo... ORPHA:800
Hemihyperplasia, Isolated
Skeletal muscle hypertrophy, Myelomeningocele, Scoliosis OMIM:235000
B4Galt7-Related Spondylodysplastic Ehlers-Danlos Syndrome
Flexion contracture, Hyperextensible skin, Cutis laxa, Kyphoscoliosis, Skeletal muscle atrophy, J... ORPHA:75496
Musculocontractural Ehlers-Danlos Syndrome
Tapered finger, Pneumothorax, Atlantoaxial dislocation, Slender finger, Arthrogryposis multiplex ... ORPHA:2953
Fibrochondrogenesis 1
Dumbbell-shaped long bone, Thoracic hypoplasia, Camptodactyly, Short neck, Widely patent coronal ... OMIM:228520
Calpain-3-Related Limb-Girdle Muscular Dystrophy R1
Hyperlordosis, Wrist flexion contracture, Congenital finger flexion contractures, Flexion contrac... ORPHA:267
Lethal Congenital Contracture Syndrome Type 1
Abnormality of the elbow, Recurrent fractures, Slender long bone, Abnormal cortical bone morpholo... ORPHA:1486
Intellectual Developmental Disorder With Speech Delay And Axonal Peripheral Neuropathy
Distal amyotrophy, Kyphoscoliosis, Respiratory distress OMIM:619099
Cutis Laxa, Neonatal, With Marfanoid Phenotype
Cutis laxa, Hip dislocation, Emphysema, Congenital diaphragmatic hernia, Arachnodactyly OMIM:614100
Myotonia Permanens
Hyperlordosis, Asthma, Limitation of joint mobility, Generalized muscle hypertrophy, Dyspnea, Ske... ORPHA:99735
1P36 Deletion Syndrome
Delayed cranial suture closure, Camptodactyly of finger, Conductive hearing impairment, Dysphagia... ORPHA:1606
Axial Spondylometaphyseal Dysplasia
Thoracic hypoplasia, Flattened femoral head, Aplasia/Hypoplasia of the vertebrae, Narrow greater ... ORPHA:168549
Kyphomelic Dysplasia
Short thorax, Anterior rib cupping, Missing ribs, Flat acetabular roof, Limitation of joint mobil... ORPHA:1801
Coffin-Lowry Syndrome
Tapered finger, Pectus excavatum, Pseudoepiphyses of the metacarpals, Abnormal form of the verteb... ORPHA:192
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome
Omphalocele, Abnormal metaphysis morphology, Narrow chest, Short neck, Abnormal clavicle morpholo... ORPHA:93267
Dyggve-Melchior-Clausen Disease
Hypoplastic acetabulae, Short neck, Limited elbow extension, Beaking of vertebral bodies, Abnorma... ORPHA:239
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 3
Increased variability in muscle fiber diameter, Limb-girdle muscle weakness, Flexion contracture,... OMIM:608099
Spondyloepiphyseal Dysplasia Congenita
Delayed calcaneal ossification, Hip dislocation, Short neck, Ovoid vertebral bodies, Flattened ep... OMIM:183900
Kbg Syndrome
Vertebral arch anomaly, Vertebral fusion, Macrotia, Thoracic kyphosis, Protruding ear, Clinodacty... OMIM:148050
Myopathy And Diabetes Mellitus
Sensorineural hearing impairment, Skeletal myopathy, Distal lower limb amyotrophy, Weakness of or... ORPHA:2596
Cutis Laxa, Autosomal Recessive, Type Iia
Wide anterior fontanel, Cutis laxa, Joint hypermobility, Inguinal hernia, Congenital hip dislocat... OMIM:219200
De Barsy Syndrome
Delayed closure of the anterior fontanelle, Decreased muscle mass, Generalized joint laxity, Coxa... ORPHA:2962
Craniofaciofrontodigital Syndrome
Pulmonary arterial hypertension, Palmoplantar cutis laxa, Finger joint hypermobility, Cutis laxa,... ORPHA:363705
Shox-Related Short Stature
Genu valgum, Lower limb undergrowth, Short neck, Ulnar radial head dislocation, Scoliosis, Cubitu... ORPHA:314795
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 6
Joint contracture of the hand, Calf muscle hypertrophy, Muscular dystrophy, Achilles tendon contr... OMIM:608840
Fibrochondrogenesis
Camptodactyly of finger, Bell-shaped thorax, Respiratory insufficiency, Wide anterior fontanel, A... ORPHA:2021
Chromosome 1P36 Deletion Syndrome, Distal
Camptodactyly of finger, Delayed closure of the anterior fontanelle, Conductive hearing impairmen... OMIM:607872
Lethal Recessive Chondrodysplasia
Short long bone, Flared elbow metaphyses, Macroglossia, Generalized osteosclerosis, Respiratory d... ORPHA:1423
Geroderma Osteodysplasticum
Increased susceptibility to fractures, Biconcave vertebral bodies, Irregular vertebral endplates,... OMIM:231070
Progeroid Syndrome, Petty Type
Wide anterior fontanel, Cutis laxa, Redundant skin, Decreased skull ossification, Low-set, poster... ORPHA:2963
Charcot-Marie-Tooth Disease Type 1B
Skeletal muscle hypertrophy, Hearing impairment, Skeletal muscle atrophy, Scoliosis ORPHA:101082
Myasthenic Syndrome, Congenital, 4A, Slow-Channel
Respiratory distress, Myopathy, Apneic episodes precipitated by illness, fatigue, stress, Type 2 ... OMIM:605809
Odontochondrodysplasia
Coxa valga, Abnormal metaphysis morphology, Death in infancy, Respiratory distress, Scoliosis, Jo... ORPHA:166272
Myasthenic Syndrome, Congenital, 6, Presynaptic
Respiratory distress, Apneic episodes precipitated by illness, fatigue, stress, Type 2 muscle fib... OMIM:254210
Autosomal Recessive Robinow Syndrome
Camptodactyly of finger, Toe syndactyly, Elbow dislocation, Pectus excavatum, Short neck, Hearing... ORPHA:1507
Cutis Laxa-Marfanoid Syndrome
Flexion contracture, Hip dislocation, Limitation of joint mobility, Emphysema, Congenital diaphra... ORPHA:171719
Lung Agenesis-Heart Defect-Thumb Anomalies Syndrome
Triphalangeal thumb, Respiratory insufficiency, Preaxial hand polydactyly, Death in infancy, Spin... ORPHA:1120
Macs Syndrome
Hyperextensible skin, Cutis laxa, Bronchiectasis, Joint laxity, Joint hypermobility, Pectus excav... OMIM:613075
Mucopolysaccharidosis, Type Iva
Pointed proximal second through fifth metacarpals, Coxa valga, Lumbar kyphosis, Short neck, Ovoid... OMIM:253000
Osteogenesis Imperfecta
Flexion contracture, Thoracic hypoplasia, Pectus excavatum, Dislocated radial head, Dysphagia, Ab... ORPHA:666
Spondylometaphyseal Dysplasia, Axial
Anterior rib cupping, Coxa vara, Short femoral neck, Thoracic hypoplasia, Proximal femoral metaph... OMIM:602271
Muscular Dystrophy-Dystroglycanopathy (Congenital With Or Without Impaired Intellectual Development), Type B, 5
Hyperlordosis, Vertebral fusion, Respiratory failure, Kyphosis, Calf muscle hypertrophy, Achilles... OMIM:606612
Rin2 Syndrome
Increased susceptibility to fractures, Abnormal sternum morphology, Hyperextensible skin, Joint h... ORPHA:217335
Lethal Osteosclerotic Bone Dysplasia
Delayed cranial suture closure, Respiratory distress, Short neck, Dyspnea, Respiratory failure, L... ORPHA:1832
Phaver Syndrome
Camptodactyly of finger, Triphalangeal thumb, Conductive hearing impairment, Myelomeningocele, Ap... ORPHA:2876
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 3
Hyperlordosis, Increased variability in muscle fiber diameter, Calf muscle hypertrophy, Muscular ... OMIM:613157
Spondyloepimetaphyseal Dysplasia, Irapa Type
Short metatarsal, Genu valgum, Upper limb undergrowth, Abnormal carpal morphology, Coxa vara, Sho... ORPHA:93351
X-Linked Charcot-Marie-Tooth Disease Type 5
Skeletal muscle hypertrophy, Hearing impairment, Scoliosis, Kyphosis ORPHA:99014
C Syndrome
Short metacarpal, Cutis laxa, Toe syndactyly, Clinodactyly, Hip dislocation, Ulnar deviation of f... OMIM:211750
Lenz-Majewski Hyperostotic Dwarfism
Delayed cranial suture closure, Humeroradial synostosis, Elbow flexion contracture, Spina bifida ... OMIM:151050
Severe X-Linked Mitochondrial Encephalomyopathy
Respiratory insufficiency, Increased variability in muscle fiber diameter, Skeletal muscle atroph... ORPHA:238329
Spondylomegaepiphyseal Dysplasia With Upper Limb Mesomelia, Punctate Calcifications, And Deafness
Hypoplastic iliac wing, Irregular vertebral endplates, Sensorineural hearing impairment, Short fo... OMIM:609616
Osteogenesis Imperfecta, Type X
Thin bony cortex, Thoracic hypoplasia, Short femur, Fibular bowing, Genu valgum, Generalized join... OMIM:613848
Leri-Weill Dyschondrosteosis
Short tibia, Coxa valga, Abnormal carpal morphology, Short 4th metacarpal, Increased carrying ang... OMIM:127300
Ehlers-Danlos Syndrome, Classic Type, 2
Hyperextensible skin, Generalized joint laxity, Recurrent sinusitis, Joint hypermobility, Congeni... OMIM:130010
Mosaic Trisomy 14
Camptodactyly of finger, Microtia, Narrow chest, Short neck, Low-set, posteriorly rotated ears, A... ORPHA:1703
Ehlers-Danlos Syndrome, Arthrochalasia Type, 1
Congenital knee dislocation, Increased susceptibility to fractures, Delayed closure of the anteri... OMIM:130060
Congenital Myasthenic Syndrome
Limb-girdle muscle weakness, Muscle fiber atrophy, Choking episodes, Dysphagia, Distal amyotrophy... ORPHA:590
Presynaptic Congenital Myasthenic Syndromes
Limb-girdle muscle weakness, Muscle fiber atrophy, Choking episodes, Dysphagia, Distal amyotrophy... ORPHA:98914
Craniodiaphyseal Dysplasia, Autosomal Dominant
Thickened ribs, Craniofacial hyperostosis, Facial diplegia, Craniofacial osteosclerosis, Diaphyse... OMIM:122860
Mesomelic Dysplasia, Kantaputra Type
Camptodactyly of finger, Dumbbell-shaped humerus, Vertebral segmentation defect, Synostosis of ca... ORPHA:1836
Diaphanospondylodysostosis
Respiratory insufficiency, Absent in utero ossification of vertebral bodies, Unossified sacrum, B... OMIM:608022
Global Developmental Delay-Alopecia-Macrocephaly-Facial Dysmorphism-Structural Brain Anomalies Syndrome
Sacral dimple, Macrotia, Tapered finger, Sensorineural hearing impairment, Tapered toe, Asthma, C... ORPHA:544488
Congenital Disorder Of Glycosylation, Type Iy
Macrotia, Joint dislocation, Clinodactyly, Respiratory distress, Scoliosis OMIM:300934
Spondylocostal Dysostosis With Anal Atresia And Urogenital Anomalies
Vertebral fusion, Supernumerary vertebrae, Block vertebrae, Short ribs, Missing ribs, Inguinal he... OMIM:271520
Intellectual Disability-Myopathy-Short Stature-Endocrine Defect Syndrome
Hyperlordosis, Abnormal muscle fiber morphology, Craniofacial hyperostosis, Clinodactyly of the 5... ORPHA:3068
Congenital Muscular Dystrophy-Respiratory Failure-Skin Abnormalities-Joint Hyperlaxity Syndrome
Abnormal elasticity of skin, Increased variability in muscle fiber diameter, Multiple joint contr... ORPHA:486815
Aarskog-Scott Syndrome
Camptodactyly of finger, Umbilical hernia, Hyperextensible skin, Abnormality of the cervical spin... ORPHA:915
Isolated Congenital Hypoglossia/Aglossia
Aspiration pneumonia, Aplasia/Hypoplasia of fingers, Respiratory distress, Upper airway obstructi... ORPHA:141152
Cutis Laxa, Autosomal Dominant 3
Delayed cranial suture closure, Cutis laxa, Premature skin wrinkling, Hip dislocation, Wormian bo... OMIM:616603
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly
Horizontal ribs, Respiratory failure, Thoracic hypoplasia, Hypoplastic ilia, Short ribs, Hypoplas... OMIM:617895
Wolf-Hirschhorn Syndrome
Sacral dimple, Preaxial hand polydactyly, Kyphosis, Microtia, Hypoplastic pubic rami, Abnormal th... ORPHA:280
Craniodiaphyseal Dysplasia
Abnormal rib morphology, Conductive hearing impairment, Craniofacial hyperostosis, Diaphyseal thi... ORPHA:1513
6P22 Microdeletion Syndrome
Finger syndactyly, Clinodactyly, Redundant skin, Short neck, Overfolded helix, Low-set ears, Hear... ORPHA:251046
Classical-Like Ehlers-Danlos Syndrome Type 2
Shoulder dislocation, Hallux valgus, Hip dislocation, Elbow dislocation, Pectus excavatum, Knee d... ORPHA:536532
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome
Respiratory insufficiency, Hallux valgus, Multiple joint contractures, Atlantoaxial dislocation, ... ORPHA:536467
Cutis Laxa, Autosomal Recessive, Type Ia
Cutis laxa, Joint laxity, Pectus excavatum, Emphysema, Congenital diaphragmatic hernia, Inguinal ... OMIM:219100
Shprintzen-Goldberg Craniosynostosis Syndrome
Conductive hearing impairment, Camptodactyly, Metatarsus adductus, Dislocated radial head, Pectus... OMIM:182212
Short-Rib Thoracic Dysplasia 9 With Or Without Polydactyly
Short phalanx of finger, Thoracic hypoplasia, Short neck, Postaxial hand polydactyly, Prominent m... OMIM:266920
Jeune Syndrome
Respiratory insufficiency, Abnormal sternum morphology, Short thorax, Toe syndactyly, Narrow ches... ORPHA:474
Neurodevelopmental Disorder With Spastic Quadriplegia And Brain Abnormalities With Or Without Seizures
Kyphoscoliosis, Joint contracture, Respiratory distress OMIM:617977
Achondroplasia
Conductive hearing impairment, Spinal stenosis with reduced interpedicular distance, Severe platy... OMIM:100800
Metaphyseal Chondrodysplasia, Schmid Type
Short tubular bones of the hand, Metaphyseal cupping of proximal phalanges, Lumbar hyperlordosis,... ORPHA:174
Ehlers-Danlos Syndrome, Dermatosparaxis Type
Short phalanx of finger, Short toe, Delayed closure of the anterior fontanelle, Hyperextensible s... OMIM:225410
Pseudoxanthoma Elasticum-Like Skin Manifestations With Retinitis Pigmentosa
Redundant skin, Increased number of skin folds, Cutis laxa ORPHA:436274
Kyphoscoliotic Ehlers-Danlos Syndrome Due To Fkbp22 Deficiency
Hyperextensible skin, Sensorineural hearing impairment, Joint hypermobility, Kyphoscoliosis, Myop... ORPHA:300179
Acrocapitofemoral Dysplasia
Short tibia, Flared iliac wing, Short proximal phalanx of finger, Short femur, Pectus excavatum, ... OMIM:607778
Ehlers-Danlos Syndrome, Periodontal Type, 2
Joint dislocation, Hyperextensible skin, Joint hypermobility, Inguinal hernia, Scoliosis, Umbilic... OMIM:617174
Thanatophoric Dysplasia, Type Ii
Respiratory insufficiency, Metaphyseal irregularity, Hypoplastic ilia, Short ribs, Brachydactyly,... OMIM:187601
Baller-Gerold Syndrome
Absent thumb, Conductive hearing impairment, Aplasia of metacarpal bones, Short humerus, Aphalang... OMIM:218600
Melnick-Needles Syndrome
Delayed cranial suture closure, Osteolytic defects of the phalanges of the hand, Respiratory insu... ORPHA:2484
Spondylometaphyseal Dysplasia, Sedaghatian Type
Short phalanx of finger, Flared iliac wing, Irregular tarsal bones, Short neck, Narrow greater sc... OMIM:250220
Myopathy, Centronuclear, 6, With Fiber-Type Disproportion
Hyperlordosis, Muscle fiber splitting, Increased variability in muscle fiber diameter, Centrally ... OMIM:617760
Cardiospondylocarpofacial Syndrome
Fusion of middle ear ossicles, Conductive hearing impairment, Pseudoepiphyses, Enlarged vestibula... OMIM:157800
Short-Rib Thoracic Dysplasia 17 With Or Without Polydactyly
Horizontal ribs, Short ribs, Narrow chest, Death in infancy, Postaxial foot polydactyly, Lateral ... OMIM:617405
Spondyloepimetaphyseal Dysplasia, X-Linked, With Hypomyelinating Leukodystrophy
Flexion contracture, Flared iliac wing, Short neck, Flattened epiphysis, Peg-like central promine... OMIM:300232
Mitochondrial Complex I Deficiency, Nuclear Type 30
Redundant skin, Neonatal death OMIM:301021
Ogden Syndrome
Delayed cranial suture closure, Macrotia, Cutis laxa, Torticollis, Broad hallux, Inguinal hernia,... ORPHA:276432
Osteogenesis Imperfecta, Type Iii
Pulmonary arterial hypertension, Protrusio acetabuli, Biconcave vertebral bodies, Bowing of limbs... OMIM:259420
Pallister-Hall Syndrome
Atresia of the external auditory canal, Mesoaxial foot polydactyly, Neonatal death, Short 4th met... OMIM:146510
Septopreoptic Holoprosencephaly
Ethmoidal encephalocele, Abnormal vertebral morphology, Impulsivity, Dysphagia, Abnormal rib morp... ORPHA:280195
Synaptic Congenital Myasthenic Syndromes
Respiratory insufficiency, Pulmonary arterial hypertension, Abnormality of the knee, Hypoventilat... ORPHA:98915
Osteogenesis Imperfecta, Type Ix
Bowing of limbs due to multiple fractures, Recurrent fractures, Kyphosis, Short lower limbs, Pect... OMIM:259440
Intellectual Disability-Polydactyly-Uncombable Hair Syndrome
Abnormal antihelix morphology, Metatarsus valgus, Conductive hearing impairment, Kyphosis, Aplasi... ORPHA:3082
Cutis Laxa, Autosomal Dominant 2
Premature skin wrinkling, Scoliosis, Cutis laxa OMIM:614434
Muscle Hypertrophy
Skeletal muscle hypertrophy OMIM:614160
Tetrasomy 5P
Pulmonary arterial hypertension, Aplasia/Hypoplasia of the abdominal wall musculature, Wide anter... ORPHA:3309
Muscular Pseudohypertrophy-Hypothyroidism Syndrome
Skeletal muscle hypertrophy, Myopathy, Macroglossia, Umbilical hernia ORPHA:2349
Meier-Gorlin Syndrome 1
Flexion contracture, Coxa valga, Osteochondritis dissecans, Camptodactyly, Elbow dislocation, Abs... OMIM:224690
Spinal Muscular Atrophy, Distal, Autosomal Recessive, 6
Plantar flexion contracture, Distal arthrogryposis, Wrist drop, Diaphragmatic eventration, Parado... OMIM:620011
Femoral-Facial Syndrome
Hypoplastic acetabulae, Humeroradial synostosis, Toe syndactyly, Aplasia/hypoplasia of the femur,... OMIM:134780
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 2
Generalized amyotrophy, Respiratory distress, Pallor, Dysphagia, Ragged-red muscle fibers, Respir... OMIM:613561
Myotubular Myopathy With Abnormal Genital Development
Centrally nucleated skeletal muscle fibers, Death in infancy, Respiratory distress, Joint hypermo... OMIM:300219
Campomelic Dysplasia
Short phalanx of finger, Conductive hearing impairment, Spinal dysraphism, Hallux valgus, Thoraci... OMIM:114290
Occipital Horn Syndrome
Coxa valga, Short humerus, Pelvic bone exostoses, Pectus excavatum, Limited elbow extension, Genu... OMIM:304150
Klippel-Feil Syndrome 1, Autosomal Dominant
Conductive hearing impairment, Sensorineural hearing impairment, Abnormal vertebral segmentation ... OMIM:118100
Myopathy, Congenital, With Fiber-Type Disproportion, X-Linked
Type 1 fibers relatively smaller than type 2 fibers, Respiratory distress, Myopathy, Frontalis mu... OMIM:300580
Anoctamin-5-Related Limb-Girdle Muscular Dystrophy R12
Wrist flexion contracture, Muscle fiber splitting, Flexion contracture, Quadriceps muscle atrophy... ORPHA:206549
Spondyloepimetaphyseal Dysplasia, Irapa Type
Hypoplastic sacrum, Genu valgum, Enlargement of the costochondral junction, Metaphyseal dysplasia... OMIM:271650
White Forelock With Malformations
Finger syndactyly, Clinodactyly of the 5th finger, Spina bifida occulta, Sprengel anomaly, Joint ... ORPHA:2475
Rippling Muscle Disease 2
Skeletal muscle hypertrophy, Calf muscle hypertrophy OMIM:606072
Cog1-Cdg
Pulmonary arterial hypertension, Coxa valga, Microtia, Short long bone, Vertebral segmentation de... ORPHA:263508
Severe Congenital Nemaline Myopathy
Flexion contracture, Facial palsy, Abnormal thorax morphology, Type 1 muscle fiber predominance, ... ORPHA:171430
Mitochondrial Myopathy With Reversible Cytochrome C Oxidase Deficiency
Ventilator dependence with inability to wean, Macroglossia, Respiratory distress, Myopathy, Incre... ORPHA:254864
Gapo Syndrome
Delayed cranial suture closure, Bell-shaped thorax, Delayed closure of the anterior fontanelle, W... OMIM:230740
Pseudoachondroplasia
Short phalanx of finger, Atlantoaxial dislocation, Irregular carpal bones, Limited elbow extensio... OMIM:177170
Hypomyelination Neuropathy-Arthrogryposis Syndrome
Respiratory distress, Limitation of joint mobility ORPHA:2680
Spondyloepimetaphyseal Dysplasia, Strudwick Type
Hyperlordosis, Genu valgum, Metaphyseal irregularity, Anterior rib cupping, Coxa vara, Hypoplasti... OMIM:184250
Spinal muscular atrophy, type I, with congenital bone fractures
Flexion contracture, Decreased muscle mass, Generalized amyotrophy, Respiratory distress, Pectus ... OMIM:271225
Trichothiodystrophy 8, Nonphotosensitive
Cutis laxa, Ankle clonus, Head titubation, Protruding ear OMIM:619691
3M Syndrome
Horizontal ribs, Enlarged thorax, Short neck, Scapular winging, Abnormal metaphysis morphology, R... ORPHA:2616
Shprintzen-Goldberg Syndrome
Camptodactyly of finger, Conductive hearing impairment, Elbow dislocation, Pectus excavatum, Abno... ORPHA:2462
Microcephaly-Cervical Spine Fusion Anomalies Syndrome
Hyperlordosis, Kyphosis, Fused cervical vertebrae, Pectus excavatum, Short neck, Abnormal clavicl... ORPHA:2522
Muscular Hypertonia, Lethal
Pneumonia, Respiratory distress, Umbilical hernia, Death in infancy OMIM:254120
Congenital Myopathy 7B, Myosin Storage, Autosomal Recessive
Respiratory insufficiency, Limb-girdle muscle weakness, Centrally nucleated skeletal muscle fiber... OMIM:255160
Pleural Mesothelioma
Abnormal thorax morphology, Abnormal respiratory system physiology, Respiratory distress, Pleural... ORPHA:50251
Slc39A13-Related Spondylodysplastic Ehlers-Danlos Syndrome
Broad femoral neck, Flexion contracture, Tapered finger, Short femoral neck, Hyperextensible skin... ORPHA:157965
Congenital Disorder Of Glycosylation, Type Iu
Death in infancy, Respiratory distress, Scoliosis, Neonatal respiratory distress, Congenital cont... OMIM:615042
Aldh18A1-Related De Barsy Syndrome
Hyperextensible skin, Joint hyperflexibility ORPHA:35664
Bohring-Opitz Syndrome
Sacral dimple, Short toe, Joint dislocation, Flexion contracture, Tapered finger, Cutis laxa, Uln... OMIM:605039
Bone Dysplasia, Lethal Holmgren Type
Respiratory insufficiency, Bell-shaped thorax, Joint dislocation, Abnormality of the elbow, Short... ORPHA:1842
Acromesomelic Dysplasia 1
Short phalanx of finger, Ovoid vertebral bodies, Limited elbow extension, Beaking of vertebral bo... OMIM:602875
Grant Syndrome
Joint dislocation, Narrow chest, Abnormal cortical bone morphology, Abnormal pelvic girdle bone m... ORPHA:2097
Mucopolysaccharidosis, Type Ivb
Pointed proximal second through fifth metacarpals, Coxa valga, Constricted iliac wing, Ovoid vert... OMIM:253010
Cutis Laxa, Autosomal Recessive, Type Iiib
Flexion contracture, Cutis laxa, Dermal translucency, Elbow flexion contracture, Hip dislocation,... OMIM:614438
Schneckenbecken Dysplasia
Metaphyseal irregularity, Dumbbell-shaped long bone, Advanced ossification of carpal bones, Anter... OMIM:269250
Methylmalonic Aciduria And Homocystinuria, Cblj Type
Horizontal ribs, Bell-shaped thorax, Abnormal posturing, Pulmonary arterial hypertension, Inguina... OMIM:614857
Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 2
Conductive hearing impairment, Hyperextensible skin, Cutis laxa, Type 1 muscle fiber predominance... OMIM:614557
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 3
Metaphyseal irregularity, Irregular vertebral endplates, Tapered finger, Patellar dislocation, Sh... OMIM:618395
Brown-Vialetto-Van Laere Syndrome 1
Respiratory insufficiency, Ankle clonus, Sensorineural hearing impairment, Kyphosis, Hand muscle ... OMIM:211530
Rnf13-Related Severe Early-Onset Epileptic Encephalopathy
Hyperextensibility at wrists, Flexion contracture, Tapered finger, Sensorineural hearing impairme... ORPHA:544503
Spondylo-Ocular Syndrome
Abnormal antihelix morphology, Hyperextensible skin, Thoracic kyphosis, Osteoporosis, Abnormal in... ORPHA:85194
Spondylometaphyseal Dysplasia With Cone-Rod Dystrophy
Metaphyseal irregularity, Metaphyseal cupping, Severe platyspondyly, Coxa vara, Short metacarpal,... OMIM:608940
Spondyloepimetaphyseal Dysplasia, Borochowitz-Cormier-Daire Type
Dysplastic iliac wing, Hypoplastic pubic bone, Thoracic hypoplasia, Short long bone, Flat acetabu... OMIM:608728
Renpenning Syndrome
Macrotia, Round ear, Sensorineural hearing impairment, Clinodactyly of the 5th finger, Abnormal t... ORPHA:3242
Rahman Syndrome
Redundant skin, Kyphoscoliosis, Camptodactyly OMIM:617537
Periodontal Ehlers-Danlos Syndrome
Hyperextensible skin, Joint hyperflexibility ORPHA:75392
Dyggve-Melchior-Clausen Disease
Camptodactyly, Short neck, Flat glenoid fossa, Beaking of vertebral bodies, Narrow greater sciati... OMIM:223800
Axial Mesodermal Dysplasia Spectrum
Abnormality of the knee, Microtia, Vertebral segmentation defect, Missing ribs, Abnormal pelvic g... ORPHA:1834
Autosomal Recessive Cutis Laxa Type 2, Classic Type
Delayed closure of the anterior fontanelle, Decreased muscle mass, Generalized joint laxity, Cuti... ORPHA:357074
Dysosteosclerosis
Short diaphyses, Delayed closure of the anterior fontanelle, Sclerotic scapulae, Hypoplastic vert... OMIM:224300
Zttk Syndrome
Flexion contracture, Hyperextensible skin, Small hand, Kyphosis, Cervical ribs, Joint hypermobili... OMIM:617140
Rippling Muscle Disease 1
Skeletal muscle hypertrophy OMIM:600332
Short-Rib Thoracic Dysplasia 16 With Or Without Polydactyly
Short phalanx of finger, Short metatarsal, Short thorax, Short metacarpal, Angel-shaped phalanx, ... OMIM:617102
Gaucher Disease Type 2
Flexion contracture, Respiratory distress, Abnormal pattern of respiration, Cough, Dysphagia ORPHA:77260
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type
Flexion contracture, Fractured radius, Thoracic hypoplasia, Short ribs, Multiple rib fractures, P... OMIM:616897
Congenital Disorder Of Glycosylation, Type Iir
Low-set ears, Cutis laxa OMIM:301045
Congenital Muscular Dystrophy With Cerebellar Involvement
Congenital muscular dystrophy, Reduced muscle fiber alpha dystroglycan, Macroglossia, Calf muscle... ORPHA:370959
Achondrogenesis Type 1B
Short thorax, Abnormal enchondral ossification, Narrow chest, Short neck, Abnormal rib morphology... ORPHA:93298
Shwachman-Diamond Syndrome 1
Irregular ossification at anterior rib ends, Anterior rib cupping, Enlargement of the costochondr... OMIM:260400
Wrinkly Skin Syndrome
Delayed cranial suture closure, Delayed closure of the anterior fontanelle, Palmoplantar cutis la... OMIM:278250
Kyphoscoliotic Ehlers-Danlos Syndrome Due To Lysyl Hydroxylase 1 Deficiency
Hip subluxation, Patellar dislocation, Muscle fiber atrophy, Elbow flexion contracture, Hip dislo... ORPHA:1900
Juberg-Hayward Syndrome
Abnormality of the elbow, Abnormal finger morphology, Toe syndactyly, Hypoplasia of the radius, A... ORPHA:2319
Hydrocephalus-Costovertebral Dysplasia-Sprengel Anomaly Syndrome
Sprengel anomaly, Scoliosis, Sandal gap, Brachydactyly, Abnormal rib morphology, Low-set ears, He... ORPHA:2180
Mohr-Tranebjaerg Syndrome
Increased susceptibility to fractures, Postlingual sensorineural hearing impairment, Abnormal pos... OMIM:304700
Ogden Syndrome
Delayed cranial suture closure, Metatarsus valgus, Redundant neck skin, Pectus excavatum, Broad h... OMIM:300855
Holt-Oram Syndrome
Triphalangeal thumb, Absent thumb, Finger syndactyly, Kyphosis, Abnormality of the humerus, Abnor... ORPHA:392
Autosomal Dominant Centronuclear Myopathy
Centrally nucleated skeletal muscle fibers, Abnormality of the foot musculature, Calf muscle hype... ORPHA:169189
Thoracolaryngopelvic Dysplasia
Horizontal ribs, Hypoplastic iliac wing, Bell-shaped thorax, Irregular vertebral endplates, Irreg... OMIM:187760
Pelviscapular Dysplasia
Hypoplastic ilia, Humeroradial synostosis, Elbow flexion contracture, Redundant neck skin, Short ... ORPHA:93333
Cartilage-Hair Hypoplasia
Respiratory insufficiency, Spinal dysraphism, Abnormal distal phalanx morphology of finger, Short... ORPHA:175
Alg8-Cdg
Cutis laxa, Premature skin wrinkling, Camptodactyly, Macroglossia, Brachydactyly, Low-set ears ORPHA:79325
Microphthalmia, Syndromic 3
Vertebral fusion, Sensorineural hearing impairment, Vertebral hypoplasia, Supernumerary ribs, Mis... OMIM:206900
Spondylometaphyseal Dysplasia, A4 Type
Flared, irregular rib ends, Coxa vara, Limitation of joint mobility, Platyspondyly, Short palm ORPHA:168555
Neurodevelopmental Disorder With Hypotonia, Facial Dysmorphism, And Brain Abnormalities
Delayed cranial suture closure, Flexion contracture, Respiratory distress, Overlapping toe, Atten... OMIM:619383
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 3
Camptodactyly of finger, Short phalanx of finger, Broad femoral neck, Irregular vertebral endplat... OMIM:612350
Mucopolysaccharidosis Type 4
Hyperlordosis, Genu valgum, Joint dislocation, Coxa valga, Short thorax, Kyphosis, Pectus carinat... ORPHA:582
Myhre Syndrome
Respiratory insufficiency, 2-3 toe syndactyly, Camptodactyly, Overlapping toe, Short neck, Radial... OMIM:139210
Ossification Anomalies-Psychomotor Developmental Delay Syndrome
Generalized bone demineralization, Decreased muscle mass, Short 5th finger, Abnormal bone ossific... ORPHA:73230
Short-Rib Thoracic Dysplasia 11 With Or Without Polydactyly
Horizontal ribs, Bell-shaped thorax, Respiratory insufficiency, Short long bone, Thoracic dysplas... OMIM:615633
Cleidocranial Dysplasia
Tapered finger, Hypoplastic inferior ilia, Spina bifida occulta, Abnormal rib morphology, Hearing... ORPHA:1452
Fibrochondrogenesis 2
Bell-shaped thorax, Metaphyseal cupping, Hypoplastic pubic bone, Hypoplastic ilia, Thoracic hypop... OMIM:614524
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Microdeletion
Wrist flexion contracture, Coat hanger sign of ribs, Flexion contracture, Diastasis recti, Thorac... ORPHA:254528
Moebius Syndrome
Short phalanx of finger, Dysphagia, Aplasia/Hypoplasia involving the metacarpal bones, Clinodacty... OMIM:157900
Menkes Disease
Cutis laxa, Joint laxity, Osteoporosis, Metaphyseal widening, Death in childhood, Metaphyseal spu... OMIM:309400
Acro-Renal-Mandibular Syndrome
Pectus carinatum, Finger syndactyly, Kyphosis, Hypoplasia of the radius, Butterfly vertebrae, Hip... ORPHA:958
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 2
Muscular dystrophy, Skeletal muscle hypertrophy OMIM:613158
Mayer-Rokitansky-Küster-Hauser Syndrome Type 2
Abnormal rib morphology, Vertebral segmentation defect, Short neck, Hearing impairment ORPHA:2578
Emphysema, Congenital Lobar
Respiratory distress OMIM:130710
Brachytelephalangic Chondrodysplasia Punctata
Vertebral hypoplasia, Stippling of the epiphyses of the distal phalanges of the hand, Epiphyseal ... ORPHA:79345
Robinow Syndrome
Bifid distal phalanx of the thumb, Radioulnar dislocation, Missing ribs, Syndactyly, Kyphoscolios... ORPHA:97360
Elastosis Perforans Serpiginosa
Cutis laxa ORPHA:79148
Mucopolysaccharidosis, Type Iiia
Ovoid thoracolumbar vertebrae, Thickened ribs, Hyperactivity, Dense calvaria, Inguinal hernia, Sc... OMIM:252900
Myhre Syndrome
Large iliac wing, Craniofacial hyperostosis, Joint stiffness, Brachydactyly, Inguinal hernia, Ske... ORPHA:2588
Lenz-Majewski Hyperostotic Dwarfism
Delayed cranial suture closure, Increased bone mineral density, Abnormal metaphysis morphology, O... ORPHA:2658
Corpus Callosum, Agenesis Of, With Facial Anomalies And Robin Sequence
Wide anterior fontanel, Clinodactyly, Respiratory distress, Redundant neck skin, Syndactyly, Shor... OMIM:217980
Auriculocondylar Syndrome 2
Hypoplastic superior helix, Cleft at the superior portion of the pinna, Overfolding of the superi... OMIM:614669
Bardet-Biedl Syndrome 16
Polydactyly, Hearing impairment, Respiratory distress OMIM:615993
Fountain Syndrome
Hyperextensible skin, Sensorineural hearing impairment, Kyphosis, Spina bifida, Abnormal metacarp... ORPHA:3219
Frontometaphyseal Dysplasia 1
Camptodactyly of finger, Wrist flexion contracture, Coxa valga, Elbow flexion contracture, Hypopl... OMIM:305620
Multiple Pterygium-Malignant Hyperthermia Syndrome
Camptodactyly of finger, Conductive hearing impairment, Tapered finger, Finger syndactyly, Kyphos... ORPHA:2215
Greenberg Dysplasia
Short phalanx of finger, Absent or minimally ossified vertebral bodies, Thoracic hypoplasia, Tetr... OMIM:215140
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 2
Postaxial hand polydactyly, Hyperextensible skin OMIM:615937
Mucopolysaccharidosis, Type Vi
Hypoplastic acetabulae, Flexion contracture, Flared iliac wing, Anterior wedging of L2, Ovoid ver... OMIM:253200
Wolf-Hirschhorn Syndrome
Conductive hearing impairment, Hip dislocation, Metatarsus adductus, Short hallux, Abnormal stern... OMIM:194190
Cardiac-Valvular Ehlers-Danlos Syndrome
Recurrent shoulder dislocation, Hallux valgus, Pectus excavatum, Genu recurvatum, Genu valgum, Hy... ORPHA:230851
Osteogenesis Imperfecta, Type Ii
Crumpled long bones, Bell-shaped thorax, Respiratory insufficiency, Thoracic hypoplasia, Recurren... OMIM:166210
Thanatophoric Dysplasia, Type I
Metaphyseal irregularity, Thoracic hypoplasia, Severe platyspondyly, Hypoplastic ilia, Short ribs... OMIM:187600
Wrinkly Skin Syndrome
Delayed closure of the anterior fontanelle, Decreased muscle mass, Generalized joint laxity, Slen... ORPHA:2834
Multiple Pterygium Syndrome, X-Linked
Increased susceptibility to fractures, Vertebral fusion, Joint dislocation, Flexion contracture, ... OMIM:312150
Osteogenesis Imperfecta, Type Viii
Femoral retroversion, Multiple prenatal fractures, Recurrent fractures, Platyspondyly, Wormian bo... OMIM:610915
10Q22.3Q23.3 Microduplication Syndrome
Abnormal rib morphology, Low-set ears, Abnormal clavicle morphology ORPHA:276422
Hypertrophic Osteoarthropathy, Primary, Autosomal Recessive, 1
Osteolytic defects of the phalanges of the hand, Arthropathy, Arthritis, Limitation of joint mobi... OMIM:259100
Bronchopulmonary Dysplasia
Tracheobronchomalacia, Hyperoxemia, Abnormal respiratory system physiology, Respiratory distress,... ORPHA:70589
Costello Syndrome
Lack of skin elasticity, Thickened Achilles tendon, Ulnar deviation of finger, Macroglossia, Larg... ORPHA:3071
Dystonia 31
Abnormal posturing, Dysphagia OMIM:619565
Achondrogenesis, Type Ia
Unossified vertebral bodies, Abnormal hand bone ossification, Short neck, Beaded ribs, Hypoplasti... OMIM:200600
Body Skin Hyperlaxity Due To Vitamin K-Dependent Coagulation Factor Deficiency
Redundant skin, Cutis laxa ORPHA:91135
Lipodystrophy, Congenital Generalized, Type 4
Hyperlordosis, Increased variability in muscle fiber diameter, Flexion contracture, Centrally nuc... OMIM:613327
Leri Pleonosteosis
Camptodactyly of finger, Lack of skin elasticity, Abnormal finger morphology, Abnormal metacarpal... ORPHA:2900
Renal Hypodysplasia/Aplasia 2
Redundant skin OMIM:615721
Cranioectodermal Dysplasia 2
Horizontal ribs, Polydactyly, Cutis laxa, Short ribs, Narrow chest, Clinodactyly, Left ventricula... OMIM:613610
Craniometadiaphyseal Dysplasia
Genu varum, Genu valgum, Coxa valga, Wide anterior fontanel, Sclerosis of skull base, Flared meta... OMIM:269300
Poland Syndrome
Spina bifida occulta, Short neck, Abnormal rib morphology, Absent hand, Reduced bone mineral dens... ORPHA:2911
Autosomal Dominant Cutis Laxa
Delayed cranial suture closure, Bronchiectasis, Hip dislocation, Redundant neck skin, Increased n... ORPHA:90348
Achondrogenesis Type 1A
Short thorax, Recurrent fractures, Short foot, Abnormal enchondral ossification, Multiple rib fra... ORPHA:93299
Recombinant 8 Syndrome
Camptodactyly of finger, Abnormal sternum morphology, Patellar aplasia, Clinodactyly of the 5th f... ORPHA:96167
Neonatal Marfan Syndrome
Enlarged thorax, Flexion contracture, Cutis laxa, Crumpled ear, Hypoxemia, Joint hypermobility, A... ORPHA:284979
Hypogonadism, Male, With Mental Retardation And Skeletal Anomalies
Abnormality of the cervical spine, Superior rib anomalies OMIM:307500
Cutis Laxa, Autosomal Recessive, Type Ic
Morgagni diaphragmatic hernia, Death in infancy, Cutis laxa, Joint laxity, Emphysema, Inguinal he... OMIM:613177
Developmental And Epileptic Encephalopathy 30
Respiratory distress, Death in infancy OMIM:616341
X-Linked Centronuclear Myopathy
Centrally nucleated skeletal muscle fibers, Type 1 fibers relatively smaller than type 2 fibers, ... ORPHA:596
Cleidocranial Dysplasia 1
Short middle phalanx of the 2nd finger, Increased bone mineral density, Hip dislocation, Cervical... OMIM:119600
Male Hypergonadotropic Hypogonadism-Intellectual Disability-Skeletal Anomalies Syndrome
Short neck, Abnormal rib morphology, Abnormality of the humeroulnar joint, Hemivertebrae, Abnorma... ORPHA:2234
Lethal Kniest-Like Dysplasia
Anterior rib cupping, Abnormality of the ischium, Hypoplastic ilia, Short ribs, Wide anterior fon... ORPHA:2347
Granulomatous Slack Skin
Erythema, Redundant skin, Cutis laxa ORPHA:33111
Craniometadiaphyseal Dysplasia, Wormian Bone Type
Thin bony cortex, Vertebral arch anomaly, Broad femoral neck, Coxa valga, Short tubular bones of ... ORPHA:85184
Arterial Tortuosity Syndrome
Macrotia, Coxa valga, Avascular necrosis of the capital femoral epiphysis, Coxa vara, Hyperextens... ORPHA:3342
Diamond-Blackfan Anemia 10
Conductive hearing impairment, Morgagni diaphragmatic hernia, Microtia, Supernumerary ribs, Respi... OMIM:613309
Congenital Disorder Of Glycosylation, Type Iq
Low-set ears, Dry skin, Cutis laxa, Dysphagia OMIM:612379
Hyperparathyroidism, Transient Neonatal
Recurrent fractures, Short ribs, Short long bone, Respiratory distress, Short femur, Femoral bowi... OMIM:618188
Trichorhinophalangeal Syndrome Type 2
Genu valgum, Conductive hearing impairment, Joint dislocation, Avascular necrosis of the capital ... ORPHA:502
Thin Ribs-Tubular Bones-Dysmorphism Syndrome
Abnormal rib morphology, Slender long bone, Low-set, posteriorly rotated ears, Abnormal pelvic gi... ORPHA:1506
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia
11 pairs of ribs, Hypoplastic iliac wing, Metaphyseal cupping, Metaphyseal cupping of proximal ph... OMIM:300863
Three M Syndrome 2
Hyperlordosis, Short thorax, Short 5th finger, Lumbar hyperlordosis, Slender long bone, Clinodact... OMIM:612921
Multiple Pterygium Syndrome, Lethal Type
Increased susceptibility to fractures, Vertebral fusion, Joint dislocation, Flexion contracture, ... OMIM:253290
Trichorhinophalangeal Syndrome, Type Ii
Hip subluxation, Coxa valga, Pectus excavatum, Scapular winging, Hearing impairment, Avascular ne... OMIM:150230
Short Chain Acyl-Coa Dehydrogenase Deficiency
Myopathy, Respiratory distress ORPHA:26792
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 5
Hyperlordosis, Vertebral fusion, Kyphosis, Calf muscle hypertrophy, Nocturnal hypoventilation, Ac... OMIM:607155
Mucopolysaccharidosis Type 6
Genu valgum, Kyphosis, Macroglossia, Epiphyseal dysplasia, Short neck, Ovoid vertebral bodies, Si... ORPHA:583
Microcephaly-Polymicrogyria-Corpus Callosum Agenesis Syndrome
Respiratory distress ORPHA:171703
Schinzel-Giedion Syndrome
Infantile sensorineural hearing impairment, Abnormal thorax morphology, Camptodactyly, Overlappin... ORPHA:798
Cenani-Lenz Syndrome
Foot oligodactyly, Finger syndactyly, Toe syndactyly, Hypoplasia of the radius, Synostosis of car... ORPHA:3258
Osteomyelitis, Sterile Multifocal, With Periostitis And Pustulosis
Osteomyelitis, Fused cervical vertebrae, Respiratory distress, Osteolysis, Periostitis, Joint swe... OMIM:612852
Blepharonasofacial Malformation Syndrome
Finger syndactyly, External ear malformation, Inguinal hernia, Redundant skin, Joint hyperflexibi... ORPHA:1252
Dysmorphism-Cleft Palate-Loose Skin Syndrome
Redundant skin ORPHA:1779
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 1, With Or Without Fractures
Hip subluxation, Flexion contracture, Advanced ossification of carpal bones, Coxa valga, Hallux v... OMIM:271640
Arthrochalasia Ehlers-Danlos Syndrome
Joint dislocation, Coxa valga, Avascular necrosis of the capital femoral epiphysis, Coxa vara, Hy... ORPHA:1899
Multinucleated Neurons, Anhydramnios, Renal Dysplasia, Cerebellar Hypoplasia, And Hydranencephaly
2-3 toe syndactyly, Clinodactyly of the 5th finger, Redundant neck skin, Hydranencephaly, Cutaneo... OMIM:236500
Microcephaly-Seizures-Intellectual Disability-Heart Disease Syndrome
Pulmonary arterial hypertension, Abnormal sternum morphology, Short ribs, Respiratory distress, R... ORPHA:2519
Mosaic Trisomy 8
Camptodactyly of finger, Abnormal antihelix morphology, Macrotia, Patellar aplasia, Narrow chest,... ORPHA:96061
Vacterl/Vater Association
Omphalocele, Preaxial hand polydactyly, Finger syndactyly, Vertebral segmentation defect, Anencep... ORPHA:887
Radio-Renal Syndrome
Respiratory failure, Abnormality of the elbow, Hypoplasia of the radius, Respiratory distress, Pl... ORPHA:3015
Hypophosphatasia
Respiratory insufficiency, Recurrent fractures, Narrow chest, Emphysema, Abnormal rib morphology,... ORPHA:436
Cardiofaciocutaneous Syndrome
Genu valgum, Macrotia, Hyperextensible skin, Pectus excavatum, Abnormal morphology of ulna, Redun... ORPHA:1340
Congenital Diaphragmatic Hernia
Prominent sternum, Aplasia/Hypoplasia of the diaphragm, Hypoxemia, Respiratory distress, Congenit... ORPHA:2140
Coffin-Lowry Syndrome
Delayed closure of the anterior fontanelle, Sensorineural hearing impairment, Tapered finger, Kyp... OMIM:303600
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy
Meningocele, Thoracic hypoplasia, Recurrent aspiration pneumonia, Early ossification of capital f... ORPHA:397715
Cardiomyopathy, Dilated, 1Gg
Respiratory distress, Left ventricular noncompaction OMIM:613642
Emanuel Syndrome
Sacral dimple, Macrotia, Multiple joint contractures, Supernumerary ribs, Redundant neck skin, Co... ORPHA:96170
Dystonia 1, Torsion, Autosomal Dominant
Hyperlordosis, Abnormal posturing, Multiple joint contractures, Kyphosis, Torticollis, Scoliosis,... OMIM:128100
Stuve-Wiedemann Syndrome 1
Short tibia, Short phalanx of finger, Respiratory insufficiency, Metaphyseal rarefaction, Elbow f... OMIM:601559
Congenital Osteogenesis Imperfecta-Microcephaly-Cataracts Syndrome
Recurrent fractures, Joint hyperflexibility, Decreased calvarial ossification, Abnormal rib morph... ORPHA:2772
Progressive Supranuclear Palsy-Parkinsonism Syndrome
Neuromuscular dysphagia, Axial muscle stiffness, Respiratory distress ORPHA:240085
Metaphyseal Dysostosis, Impaired Intellectual Development, And Conductive Deafness
Conductive hearing impairment, Flat glenoid fossa, Short palm, Lumbar hyperlordosis, Genu valgum,... OMIM:250420
Combined Oxidative Phosphorylation Deficiency 30
Left ventricular hypertrophy, Sensorineural hearing impairment, Respiratory distress, Death in in... OMIM:616974
Cat-Eye Syndrome
Abnormal rib morphology, Hip dysplasia, Hearing impairment ORPHA:195
Elastoderma
Premature skin wrinkling, Cutis laxa ORPHA:228240
Kagami-Ogata Syndrome
Pulmonary arterial hypertension, Bell-shaped thorax, Flexion contracture, Coxa valga, Diastasis r... OMIM:608149
Opsismodysplasia
Short phalanx of finger, Respiratory insufficiency, Severe platyspondyly, Hypoplastic vertebral b... OMIM:258480
Autosomal Recessive Cutis Laxa Type 1
Delayed cranial suture closure, Lack of skin elasticity, Respiratory insufficiency, Pneumothorax,... ORPHA:90349
Spondylometaphyseal Dysplasia, 'Corner Fracture' Type
Vertebral hypoplasia, Corner fracture of metaphysis, Short neck, Ovoid vertebral bodies, Posterio... ORPHA:93315
Kagami-Ogata Syndrome
Coat hanger sign of ribs, Bell-shaped thorax, Diastasis recti, Coxa valga, Thoracic hypoplasia, M... ORPHA:254519
Congenital Hypothyroidism Due To Maternal Intake Of Antithyroid Drugs
Macroglossia, Respiratory distress, Absent ossification of capital femoral epiphysis, Abnormal ep... ORPHA:226313
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 2
Increased variability in muscle fiber diameter, Encephalocele, Death in infancy, Spinal rigidity,... OMIM:613150
Otopalatodigital Syndrome Type 2
Camptodactyly of finger, Increased bone mineral density, Flared iliac wing, Elbow dislocation, Sh... ORPHA:90652
Pallister-Hall Syndrome
Respiratory insufficiency, Short 4th metacarpal, Toe syndactyly, Hip dislocation, Overlapping toe... ORPHA:672
Lipodystrophy, Familial Partial, Type 4
Skeletal muscle hypertrophy, Miscarriage OMIM:613877
Paramyotonia Congenita Of Von Eulenburg
Inspiratory stridor, Skeletal muscle hypertrophy OMIM:168300
Immunodeficiency 95
Respiratory failure, Respiratory distress, Recurrent viral pneumonia OMIM:619773
Prune Belly Syndrome
Vertebral segmentation defect, Pectus excavatum, Congenital hip dislocation, Scoliosis, Aplasia o... ORPHA:2970
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome
Sagittal craniosynostosis, Absent thumb, Dysphagia, Slender long bone, Hyperextensibility at elbo... ORPHA:500150
Aspergillosis
Osteomyelitis, Abnormal long bone morphology, Bronchiectasis, Asthma, Chronic pulmonary obstructi... ORPHA:1163
Hyperkalemic Periodic Paralysis
Respiratory insufficiency, Flexion contracture, Death in infancy, Myopathy, Skeletal muscle atrop... ORPHA:682
Craniosynostosis, Herrmann-Opitz Type
Abnormal antihelix morphology, Finger syndactyly, Microtia, Split hand, Brachydactyly, Abnormal r... ORPHA:2145
Amyloidosis, Finnish Type
Cutis laxa OMIM:105120
Spondyloepimetaphyseal Dysplasia, Missouri Type
Irregular sclerotic endplates, Genu varum, Flared, irregular rib ends, Metaphyseal cupping, Pear-... OMIM:602111
Lethal Congenital Contracture Syndrome 10
Increased variability in muscle fiber diameter, Stiff neck, Short long bone, Torticollis, Macrogl... OMIM:617022
Osteogenesis Imperfecta, Type Xv
Bowing of limbs due to multiple fractures, Recurrent fractures, Joint hypermobility, Scoliosis, P... OMIM:615220
Cutis Laxa, Autosomal Recessive, Type Iid
Macrotia, Pneumothorax, Cutis laxa, Hip dysplasia, Hip dislocation, Camptodactyly, Inguinal herni... OMIM:617403
Cutis Laxa, Autosomal Recessive, Type Ib
Cutis laxa, Dermal translucency, Joint hypermobility, Pectus excavatum, Congenital diaphragmatic ... OMIM:614437
Mucopolysaccharidosis, Type X
Hyperlordosis, Genu valgum, Broad clavicles, Hip dysplasia, Left ventricular hypertrophy, Spatula... OMIM:619698
Huntington Disease-Like 1
Abnormal posturing, Restlessness, Abnormal shoulder morphology ORPHA:157941
Myotonia Congenita, Autosomal Recessive
Dysphagia, Skeletal muscle hypertrophy, Muscle hypertrophy of the lower extremities OMIM:255700
Osteogenesis Imperfecta, Type Xvi
Conductive hearing impairment, Recurrent fractures, Angulated humerus, Short long bone, Multiple ... OMIM:616229
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type
Hypoplastic iliac wing, Short foot, Abnormality of the calcaneus, Death in infancy, Metaphyseal c... ORPHA:163966
Carpenter Syndrome 2
Camptodactyly, Pectus excavatum, Short neck, Posteriorly rotated ears, Umbilical hernia, Protrudi... OMIM:614976
Cardiomyopathy-Hypotonia-Lactic Acidosis Syndrome
Myopathy, Respiratory distress ORPHA:91130
Episodic Ataxia Type 1
Respiratory distress, Kyphoscoliosis, Scoliosis, Calf muscle hypertrophy ORPHA:37612
Spondylometaepiphyseal Dysplasia, Short Limb-Hand Type
Hip subluxation, Short phalanx of finger, Thoracic hypoplasia, Progressive calcification of costo... OMIM:271665
Satoyoshi Syndrome
Osteolytic defects of the phalanges of the hand, Genu valgum, Short metacarpal, Skeletal muscle h... OMIM:600705
Congenital Disorder Of Glycosylation, Type Ie
Knee flexion contracture, Upper limb undergrowth, Small hand, Muscular dystrophy, Camptodactyly, ... OMIM:608799
Myotonia, Potassium-Aggravated
Apneic episodes in infancy, Skeletal muscle atrophy, Skeletal muscle hypertrophy, Stridor OMIM:608390
Frank-Ter Haar Syndrome
Delayed cranial suture closure, Short phalanx of finger, Camptodactyly, Redundant neck skin, Meta... OMIM:249420
Spondyloepimetaphyseal Dysplasia, Shohat Type
Thoracic hypoplasia, Squared-off platyspondyly, Premature osteoarthritis, Short neck, Delayed epi... ORPHA:93352
Mucopolysaccharidosis, Type Iiid
Ovoid thoracolumbar vertebrae, Thickened ribs, Hyperactivity, Low-set ears, Hip dysplasia, Elbow ... OMIM:252940
Focal Facial Dermal Dysplasia Type Iii
Redundant skin, Abnormal sacroiliac joint morphology ORPHA:1807
Rhizomelic Skeletal Dysplasia With Or Without Pelger-Huet Anomaly
Horizontal ribs, Short 4th metacarpal, Thoracic hypoplasia, Camptodactyly, Broad hallux, Ovoid ve... OMIM:618019
Trisomy 13
Abnormal antihelix morphology, Sensorineural hearing impairment, Kyphosis, Narrow chest, Abnormal... ORPHA:3378
Ehlers-Danlos Syndrome, Classic Type, 1
Joint dislocation, Hyperextensible skin, Hyperextensibility of the finger joints, Osteoarthritis,... OMIM:130000
Plectin-Related Limb-Girdle Muscular Dystrophy R17
Axial muscle atrophy, Limb-girdle muscle weakness, Exertional dyspnea, Calf muscle hypertrophy, A... ORPHA:254361
Osteogenesis Imperfecta, Type Xviii
Thin bony cortex, Biconcave vertebral bodies, Recurrent fractures, Joint laxity, Joint hypermobil... OMIM:617952
Lethal Congenital Contracture Syndrome 1
Abnormal thorax morphology, Widening of cervical spinal canal, Hypoplasia of the musculature, Ske... OMIM:253310
Hurler Syndrome
Camptodactyly of finger, Rhinitis, Abnormality of the elbow, Death in infancy, Narrow pelvis bone... ORPHA:93473
Short Stature-Micrognathia Syndrome
2-3 toe syndactyly, Broad femoral neck, Coxa valga, Joint laxity, Bowing of the legs, Skeletal mu... OMIM:617164
Mucopolysaccharidosis, Type Iiic
Ovoid thoracolumbar vertebrae, Thickened ribs, Hyperactivity, Dense calvaria, Kyphoscoliosis, Dys... OMIM:252930
C Syndrome
Sacral dimple, Aplasia/Hypoplasia of the abdominal wall musculature, Joint dislocation, Death in ... ORPHA:1308
Recurrent Respiratory Papillomatosis
Respiratory insufficiency, Choking episodes, Respiratory distress, Recurrent pneumonia, Upper air... ORPHA:60032
Oculocerebrocutaneous Syndrome
Finger syndactyly, Missing ribs, Hand polydactyly, Congenital hip dislocation, External ear malfo... ORPHA:1647
Fibrinolytic Defect
Hyperextensible skin OMIM:134900
Mucopolysaccharidosis-Plus Syndrome
Flexion contracture, Flared iliac wing, Acetabular dysplasia, Macroglossia, Clubbing, Pectus exca... OMIM:617303
Microcephalic Primordial Dwarfism, Toriello Type
Abnormal rib morphology, Abnormal epiphysis morphology, Brachydactyly ORPHA:2643
Acromesomelic Dysplasia 4
Short phalanx of finger, Beaking of vertebral bodies, Thoracic platyspondyly, Lumbar hyperlordosi... OMIM:619636
Peroxisome Biogenesis Disorder 1A (Zellweger)
Bell-shaped thorax, Sensorineural hearing impairment, Wide anterior fontanel, Dysphagia, Epiphyse... OMIM:214100
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins
Pulmonary arterial hypertension, Diastasis recti, Posterior rib fusion, Butterfly vertebrae, Pleu... OMIM:265380
Cranioectodermal Dysplasia 3
Sagittal craniosynostosis, 2-3 toe syndactyly, Cutis laxa, Narrow chest, Joint laxity, Sandal gap... OMIM:614099
Fontaine Progeroid Syndrome
Respiratory insufficiency, Conductive hearing impairment, Pneumothorax, Recurrent aspiration pneu... OMIM:612289
Atelosteogenesis, Type I
Thoracic hypoplasia, Vertebral hypoplasia, Distal tapering femur, Elbow dislocation, Short femur,... OMIM:108720
Laryngotracheoesophageal Cleft Type 4
Abnormal rib morphology, Respiratory insufficiency, Abnormal form of the vertebral bodies ORPHA:93941
Cardiac Valvular Dysplasia, X-Linked
Joint stiffness, Joint laxity, Cutis laxa OMIM:314400
Viss Syndrome
Pneumothorax, Hip dislocation, Butterfly vertebrae, Pectus excavatum, Dysphagia, Contracture of t... OMIM:619472
Immunodeficiency 49
Umbilical hernia, Cutis laxa, Posteriorly rotated ears, Wormian bones OMIM:617237
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies
Hip subluxation, Flexion contracture, Tapered finger, Elbow flexion contracture, Scaling skin, Sl... OMIM:619503
Acetazolamide-Responsive Myotonia
Skeletal muscle hypertrophy, Dysphagia ORPHA:99736
Kyphoscoliotic Ehlers-Danlos Syndrome
Shoulder dislocation, Conductive hearing impairment, Hip dislocation, Pectus excavatum, Congenita... ORPHA:536545
Macular Degeneration, Age-Related, 3
Distal amyotrophy, Hyperextensible skin, Joint hypermobility OMIM:608895
Pierre Robin Sequence With Pectus Excavatum And Rib And Scapular Anomalies
Abnormal rib morphology, Pectus excavatum, Hypoplastic distal segments of scapulae, Joint hypermo... OMIM:602196
Brody Disease
Flexion contracture, Skeletal muscle hypertrophy OMIM:601003
Van Den Ende-Gupta Syndrome
Tapered finger, Hallux valgus, Elbow flexion contracture, Slender metacarpals, Pectus excavatum, ... OMIM:600920
Alg12-Cdg
Sensorineural hearing impairment, Abnormal bone ossification, Short long bone, Ulnar deviation of... ORPHA:79324
Vertebral Hypersegmentation And Orofacial Anomalies
Supernumerary ribs, Darwin tubercle of helix, Joint hypermobility, Pectus excavatum, Inguinal her... OMIM:619122
Lethal Congenital Contracture Syndrome 5
Respiratory insufficiency, Flexion contracture, Centrally nucleated skeletal muscle fibers, Death... OMIM:615368
Marfanoid Habitus-Autosomal Recessive Intellectual Disability Syndrome
Macrotia, Abnormal bone ossification, Thin metatarsal cortices, Slender long bone, Hypoplasia of ... ORPHA:2463
Specific Granule Deficiency 2
Hyperextensible skin, Death in infancy, Brachydactyly, Recurrent pneumonia, Osteopenia, Simple ea... OMIM:617475
Holzgreve Syndrome
Macrotia, Abnormal metacarpal morphology, Hand polydactyly, Joint stiffness, Abnormal morphology ... ORPHA:2167
Cole-Carpenter Syndrome
Crumpled long bones, Recurrent fractures, Kyphosis, Wormian bones, Scoliosis, Joint hyperflexibil... ORPHA:2050
Acrofrontofacionasal Dysostosis 2
Sacral dimple, Wide anterior fontanel, Hand polydactyly, Redundant neck skin, Broad hallux, Synda... OMIM:239710
Gaucher Disease, Perinatal Lethal
Thoracic hypoplasia, Petechiae, Microtia, Purpura, Respiratory distress, Apnea, Dysphagia, Low-se... OMIM:608013
Antley-Bixler Syndrome
Delayed cranial suture closure, Camptodactyly of finger, Recurrent fractures, Narrow chest, Elbow... ORPHA:83
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency
Abnormal antihelix morphology, Conductive hearing impairment, Flexion contracture, Humeroradial s... ORPHA:95699
Trisomy 1Q
Camptodactyly of finger, Preaxial hand polydactyly, Short thorax, Toe syndactyly, Congenital diap... ORPHA:261344
Chondrodysplasia, Lethal, With Long Bone Angulation And Mixed Bone Density
Short tibia, Absent ossification of thoracic vertebral bodies, Hypoplasia of the radius, Lytic de... OMIM:601376
Growth Delay-Hydrocephaly-Lung Hypoplasia Syndrome
Omphalocele, Radial bowing, Lower limb undergrowth, Abnormal rib morphology, Abnormality of fibul... ORPHA:3035
Short Stature, Optic Nerve Atrophy, And Pelger-Huet Anomaly
Cutis laxa, Broad hallux, Syndactyly, Short neck, Sandal gap, Brachydactyly OMIM:614800
Mucopolysaccharidosis Type 3
Conductive hearing impairment, Flexion contracture, Abnormality of the middle ear ossicles, Dysph... ORPHA:581
Osteoglophonic Dysplasia
Short phalanx of finger, Increased susceptibility to fractures, Short metatarsal, Pseudoarthrosis... OMIM:166250
Ichthyosis-Alopecia-Eclabion-Ectropion-Intellectual Disability Syndrome
Scaling skin, Dry skin, Cutis laxa ORPHA:2269
Acrorenal-Mandibular Syndrome
Abnormal sacral segmentation, Toe syndactyly, Elbow flexion contracture, Butterfly vertebrae, Hip... OMIM:200980
Familial Osteodysplasia, Anderson Type
Increased susceptibility to fractures, Aplastic clavicle, Recurrent fractures, Kyphosis, Aplasia/... ORPHA:2769
Ehlers-Danlos Syndrome, Cardiac Valvular Type
Hyperextensible skin, Joint laxity, Pectus excavatum, Inguinal hernia, Calcaneovalgus deformity, ... OMIM:225320
Monosomy 9Q22.3
Polydactyly, Hyperactivity, Kyphosis, Thickened ears, Pectus excavatum, Short neck, Joint hyperfl... ORPHA:77301
Camptodactyly Syndrome, Guadalajara Type 3
Broad femoral neck, Small hand, Spina bifida occulta, Thickened cortex of long bones, Short neck,... ORPHA:488434
Gapo Syndrome
Hyperextensible skin, Abnormal metaphysis morphology, Abnormal thorax morphology, Abnormal pelvic... ORPHA:2067
Anaplastic Thyroid Carcinoma
Abnormal skeletal muscle morphology, Respiratory distress, Upper airway obstruction, Dyspnea, Cou... ORPHA:142
Loeys-Dietz Syndrome 4
Protrusio acetabuli, Abnormal sternum morphology, Hyperextensible skin, Striae distensae, Pneumot... OMIM:614816
Ear-Patella-Short Stature Syndrome
Camptodactyly of finger, Respiratory failure, Aplastic clavicle, Patellar aplasia, Microtia, thir... ORPHA:2554
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Hypermethylation
Coat hanger sign of ribs, Diastasis recti, Thoracic hypoplasia, Large placenta, Omphalocele, Umbi... ORPHA:254534
Congenital Tracheomalacia
Respiratory insufficiency, Pulmonary arterial hypertension, Tracheobronchomalacia, Pneumothorax, ... ORPHA:95430
Mucopolysaccharidosis, Type Iiib
Ovoid thoracolumbar vertebrae, Thickened ribs, Hyperactivity, Dense calvaria, Joint stiffness, He... OMIM:252920
Bent Bone Dysplasia Syndrome 2
Short sternum, Short tibia, Hypoplastic iliac wing, Hypoplastic acetabulae, Short 1st metacarpal,... OMIM:620076
Achondrogenesis, Type Ii
Horizontal ribs, Hypoplastic iliac wing, Short tubular bones of the hand, Short ribs, Short long ... OMIM:200610
Classical-Like Ehlers-Danlos Syndrome Type 1
Hyperextensible skin, Joint hypermobility, Spina bifida occulta, Skeletal muscle atrophy, Joint h... ORPHA:230839
Ehlers-Danlos Syndrome, Hypermobility Type
Joint dislocation, Hyperextensible skin, Striae distensae, Joint laxity, Joint hypermobility, Sof... OMIM:130020
Osteogenesis Imperfecta, Type Vii
Delayed cranial suture closure, Protrusio acetabuli, Crumpled long bones, Recurrent fractures, Co... OMIM:610682
Occipital Horn Syndrome
Delayed cranial suture closure, Coxa valga, Large iliac wing, Hip dislocation, Abnormality of the... ORPHA:198
Short-Rib Thoracic Dysplasia 12
Horizontal ribs, Respiratory insufficiency, Thoracic dysplasia, Short neck, Short palm, Posterior... OMIM:269860
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 1
Flexion contracture, Coxa valga, Dislocated radial head, Genu recurvatum, Hyperextensible skin, R... OMIM:130070
Pyknoachondrogenesis
Horizontal ribs, Unossified sacrum, Enlarged thorax, Short thorax, Short ribs, Short long bone, P... ORPHA:3003
Alagille Syndrome
Butterfly vertebral arch, Vertebral segmentation defect, Protruding ear, Clinodactyly of the 5th ... ORPHA:52
Farber Disease
Respiratory insufficiency, Short toe, Abnormality of the knee, Flexion contracture, Abnormal ster... ORPHA:333
Coenzyme Q10 Deficiency, Primary, 8
Flexion contracture, Left ventricular hypertrophy, Hearing impairment, Respiratory distress OMIM:616733
Lissencephaly Syndrome, Norman-Roberts Type
Respiratory distress, Adducted thumb, Dysphagia, Low-set ears, Rocker bottom foot ORPHA:89844
Cortical Defects, Wormian Bones, And Dentinogenesis Imperfecta
Increased susceptibility to fractures, Delayed closure of the anterior fontanelle, Epiphyseal str... OMIM:604922
Noonan Syndrome 8
Abnormal sternum morphology, Hyperextensible skin, Palmoplantar cutis laxa, Left ventricular hype... OMIM:615355
Mullerian Duct Aplasia, Unilateral Renal Agenesis, And Cervicothoracic Somite Anomalies
Abnormal rib morphology, Abnormality of the vertebral column, Sprengel anomaly, Conductive hearin... OMIM:601076
Osteopathia Striata With Cranial Sclerosis
Delayed closure of the anterior fontanelle, Conductive hearing impairment, Camptodactyly, Pectus ... OMIM:300373
Cantú Syndrome
Coxa valga, Finger syndactyly, Cuboid-shaped vertebral bodies, Short hallux, Short neck, Ovoid ve... ORPHA:1517
Cole-Carpenter Syndrome 2
Recurrent fractures, Kyphosis, Coronal craniosynostosis, Pectus excavatum, Wide cranial sutures, ... OMIM:616294
Multiple Synostoses Syndrome 1
2-3 toe syndactyly, Stapes ankylosis, Conductive hearing impairment, Bilateral conductive hearing... OMIM:186500
Microlissencephaly-Micromelia Syndrome
11 pairs of ribs, Short neck, Respiratory distress, Adducted thumb ORPHA:50810
Gm1-Gangliosidosis, Type I
Thickened ribs, Kyphosis, Death in infancy, Hypoplastic vertebral bodies, Inguinal hernia, Short ... OMIM:230500
Chromosome 18P Deletion Syndrome
Macrotia, Coxa vara, Toe syndactyly, Clinodactyly of the 5th finger, Hypomimic face, Redundant ne... OMIM:146390
Congenital Heart Defects, Dysmorphic Facial Features, And Intellectual Developmental Disorder
Pica, Central sleep apnea, Clinodactyly, Camptodactyly, Redundant neck skin, Joint hypermobility,... OMIM:617360
Dermatosparaxis Ehlers-Danlos Syndrome
Joint dislocation, Coxa valga, Avascular necrosis of the capital femoral epiphysis, Coxa vara, Os... ORPHA:1901
Short Rib-Polydactyly Syndrome
Horizontal ribs, Short tibia, Absent or minimally ossified vertebral bodies, Polydactyly, Thoraci... ORPHA:1505
Mgat2-Cdg
Kyphosis, Respiratory distress, Prominent antihelix, Brachydactyly, Pectus excavatum, Abnormal ea... ORPHA:79329
Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 1
Respiratory insufficiency, Protrusio acetabuli, Arachnodactyly, Joint dislocation, Palmoplantar c... OMIM:225400
Fibrous Dysplasia Of Bone
Thin bony cortex, Osteolysis, Abnormal rib morphology, Fibrous dysplasia of the bones, Hearing im... ORPHA:249
Spinocerebellar Ataxia-Dysmorphism Syndrome
Hyperextensible skin, Slender long bone, Spina bifida occulta, Joint hyperflexibility, Cubitus va... ORPHA:1185
Avian Influenza
Pneumothorax, Rhabdomyolysis, Productive cough, Hypoxemia, Respiratory distress, Miscarriage, Ple... ORPHA:454836
Mitochondrial Complex Iv Deficiency, Nuclear Type 2
Increased variability in muscle fiber diameter, Death in infancy, Irregular respiration, Respirat... OMIM:604377
Gm1 Gangliosidosis Type 1
Broad long bone diaphyses, Macrotia, Aspiration pneumonia, Short long bone, Flattened femoral hea... ORPHA:79255
Combined Oxidative Phosphorylation Deficiency 2
Low-set ears, Neonatal death, Redundant neck skin, Brachydactyly OMIM:610498
Short-Rib Thoracic Dysplasia 20 With Polydactyly
Horizontal ribs, Short tibia, Neonatal death, Hypoplastic pubic bone, Wide anterior fontanel, Mic... OMIM:617925
Alpha-Mannosidosis, Infantile Form
Thickened ribs, Hypoplastic inferior ilia, Cortical thickening of long bone diaphyses, Pectus exc... ORPHA:309282
Simpson-Golabi-Behmel Syndrome
Camptodactyly of finger, Toe syndactyly, Pectus excavatum, Short neck, Postaxial hand polydactyly... ORPHA:373
Zaki Syndrome
Sacral dimple, Hyperextensible skin, Toe syndactyly, Long fingers, Congenital diaphragmatic herni... OMIM:619648
Neuromuscular Oculoauditory Syndrome
Knee flexion contracture, Wrist flexion contracture, Sensorineural hearing impairment, Calf muscl... OMIM:618733
Nestor-Guillermo Progeria Syndrome