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
Paraspinal muscle hypertrophy, Knee flexion contracture, Lumbar hyperlordosis, Scoliosis, Congeni... OMIM:602484
Poland Syndrome
Hypoplasia of serratus anterior muscle, Unilateral oligodactyly, Absence of pectoralis minor musc... OMIM:173800
Autosomal Recessive Spondylocostal Dysostosis
Umbilical hernia, Kyphosis, Short neck, Abnormal form of the vertebral bodies, Short thorax, Fing... ORPHA:2311
Spondylocostal Dysostosis 4, Autosomal Recessive
Block vertebrae, Myelomeningocele, Missing ribs, Short thorax, Restrictive ventilatory defect, Ab... OMIM:613686
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 27
Proximal muscle weakness in upper limbs, Achilles tendon contracture, Skeletal muscle atrophy, Pr... OMIM:619566
Spondylocostal Dysostosis 1, Autosomal Recessive
Block vertebrae, Short neck, Back pain, Death in infancy, Vertebral fusion, Abnormality of the od... OMIM:277300
Spondylocostal Dysostosis 2, Autosomal Recessive
Vertebral clefting, Short neck, Restrictive ventilatory defect, Vertebral segmentation defect, He... OMIM:608681
Spondylocostal Dysostosis 3, Autosomal Recessive
Slender finger, Kyphosis, Hypoplasia of the odontoid process, Supernumerary vertebral ossificatio... OMIM:609813
Becker Nevus Syndrome
Supernumerary ribs, Kyphosis, Shoulder girdle muscle atrophy, Pectus excavatum, Scoliosis, Abnorm... ORPHA:64755
Femoral-Facial Syndrome
Abnormal sacrum morphology, Abnormality of pelvic girdle bone morphology, Low-set ears, Preaxial ... ORPHA:1988
Radioulnar Synostosis-Microcephaly-Scoliosis Syndrome
Finger syndactyly, Clinodactyly of the 5th finger, Abnormal rib morphology, Radioulnar synostosis... ORPHA:3268
Autosomal Dominant Spondylocostal Dysostosis
Abnormal sacrum morphology, Missing ribs, Short neck, Short thorax, Hyperlordosis, Posterior rib ... ORPHA:1797
Myopathy, Areflexia, Respiratory Distress, And Dysphagia, Early-Onset
Restrictive ventilatory defect, Muscle fiber necrosis, Increased variability in muscle fiber diam... OMIM:614399
Congenital Muscular Dystrophy With Intellectual Disability
Multiple joint contractures, Abnormality of the tongue muscle, Reduced muscle fiber alpha dystrog... ORPHA:370968
Cerebrofaciothoracic Dysplasia
Short neck, Low-set, posteriorly rotated ears, Bifid ribs, Scoliosis, Sprengel anomaly, Narrow ch... ORPHA:1394
Richieri Costa-Da Silva Syndrome
Decreased anterioposterior diameter of lumbar vertebral bodies, Generalized bone demineralization... ORPHA:3101
Metatropic Dysplasia
Cupped ribs, Flared humeral metaphysis, Abnormal metaphyseal vascular invasion, Flared femoral me... OMIM:156530
Multiple Pterygium Syndrome, Escobar Variant
Inguinal hernia, Scoliosis, Dysplastic patella, Camptodactyly of toe, Arthrogryposis multiplex co... OMIM:265000
Myotonia With Skeletal Abnormalities And Mental Retardation
Firm muscles, Vertebral wedging, Irregular femoral epiphysis, Skeletal muscle hypertrophy, Bell-s... OMIM:255710
Ehlers-Danlos Syndrome, Classic-Like, 2
Shoulder dislocation, Thoracic scoliosis, Short neck, Hyperextensible skin, Squared iliac bones, ... OMIM:618000
Infantile-Onset X-Linked Spinal Muscular Atrophy
Cupped ribs, Inflammatory myopathy, Skeletal muscle atrophy, Short ribs, Spinal muscular atrophy,... ORPHA:1145
Endosteal Hyperostosis, Worth Type
Clavicular sclerosis, Abnormal form of the vertebral bodies, Craniofacial hyperostosis, Sensorine... ORPHA:2790
Anauxetic Dysplasia 3
Brachydactyly, Broad middle phalanx of finger, Trident hand, Thoracolumbar kyphoscoliosis, Short ... OMIM:618853
Neurogenic Thoracic Outlet Syndrome
Abnormal rib morphology ORPHA:100073
Basal Cell Nevus Syndrome
Brachydactyly, Supernumerary ribs, Irregular ossification of hand bones, Short distal phalanx of ... OMIM:109400
Muscular Dystrophy, Congenital, 1B
Achilles tendon contracture, Congenital muscular dystrophy, Generalized muscle hypertrophy, Respi... OMIM:604801
Diastrophic Dysplasia
Abnormal rib morphology, Scoliosis, Hip dysplasia, Large earlobe, Bowing of the long bones, Incre... ORPHA:628
Spondylocostal Dysostosis 5
Missing ribs, Short neck, Supernumerary ribs, Posterior rib fusion, Scoliosis, Low back pain, Ver... OMIM:122600
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 4
Flexion contracture, Muscular dystrophy, Hyperlordosis, Pectus excavatum, Skeletal muscle hypertr... OMIM:611588
Autosomal Recessive Multiple Pterygium Syndrome
Pterygium, Inguinal hernia, Scoliosis, Aplasia/Hypoplasia of the abdominal wall musculature, Arth... ORPHA:2990
Craniofacial Dysmorphism, Skeletal Anomalies, And Mental Retardation Syndrome
Craniosynostosis, Short neck, Sacral dimple, Low-set ears, Beaking of vertebral bodies, Joint hyp... OMIM:213980
Schwartz-Jampel Syndrome, Type 1
Coronal cleft vertebrae, Osteoporosis, Inguinal hernia, Abnormality of femoral epiphysis, Metaphy... OMIM:255800
Kbg Syndrome
Clinodactyly, Thoracic kyphosis, Cervical ribs, Radial deviation of finger, Syndactyly, Vertebral... OMIM:148050
Metatropic Dysplasia
Abnormal cortical bone morphology, Kyphosis, Abnormal form of the vertebral bodies, Abnormal ench... ORPHA:2635
Robinow Syndrome, Autosomal Recessive 1
Clinodactyly, Missing ribs, Bifid distal phalanx of toe, Macroglossia, Inguinal hernia, Scoliosis... OMIM:268310
Pontine Tegmental Cap Dysplasia
Aspiration, Sensorineural hearing impairment, Scoliosis, Dysphagia, Head titubation, Facial palsy... OMIM:614688
Thanatophoric Dysplasia
Brachydactyly, Abnormal ilium morphology, Kyphosis, Short thorax, Low-set ears, Joint stiffness, ... ORPHA:2655
Spondyloepimetaphyseal Dysplasia With Joint Laxity
Scoliosis, Cardiorespiratory arrest, Hip dysplasia, Hip dislocation, Abnormality of epiphysis mor... ORPHA:93359
Scarf Syndrome
Craniosynostosis, Short neck, Abnormal form of the vertebral bodies, Diastasis recti, Short stern... ORPHA:3134
Cardiospondylocarpofacial Syndrome
Brachydactyly, Carpal synostosis, Conductive hearing impairment, Cone-shaped epiphysis, Joint lax... OMIM:157800
Weaver Syndrome
Finger syndactyly, Joint stiffness, Sandal gap, Low-set, posteriorly rotated ears, Inguinal herni... ORPHA:3447
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects
Shoulder dislocation, Generalized osteoporosis, 11 pairs of ribs, Sandal gap, Bilateral elbow dis... OMIM:245600
Scarf Syndrome
Lambdoidal craniosynostosis, Short neck, Abnormal form of the vertebral bodies, Diastasis recti, ... OMIM:312830
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 2
Advanced ossification of carpal bones, Carpal synostosis, Hyperextensible skin, Joint laxity, Cut... OMIM:615349
Vater-Like Defects With Pulmonary Hypertension, Laryngeal Webs, And Growth Deficiency
Posterior rib fusion, Pectus excavatum, Pulmonary arterial hypertension, Abnormal rib cage morpho... OMIM:608406
Diaphanospondylodysostosis
Myelomeningocele, Missing ribs, Absent or minimally ossified vertebral bodies, Short neck, Short ... ORPHA:66637
Weaver Syndrome
Clinodactyly, Diastasis recti, Flared humeral metaphysis, Flared femoral metaphysis, Inguinal her... OMIM:277590
Imperforate Oropharynx-Costovertebral Anomalies Syndrome
Missing ribs, Abnormal form of the vertebral bodies, Low-set ears, Clinodactyly of the 5th finger... ORPHA:2759
Pomt1-Related Limb-Girdle Muscular Dystrophy R11
Limb-girdle muscle weakness, Generalized amyotrophy, Increased variability in muscle fiber diamet... ORPHA:86812
Myopathic Ehlers-Danlos Syndrome
Increased variability in muscle fiber diameter, Tapered finger, Scoliosis, Decreased muscle mass,... ORPHA:536516
Spondylometaphyseal Dysplasia, Type A4
Brachydactyly, Enlargement of the costochondral junction, Metaphyseal irregularity, Ovoid vertebr... OMIM:609052
Thanatophoric Dysplasia Type 2
Brachydactyly, Encephalocele, Kyphosis, Short thorax, Respiratory insufficiency, Platyspondyly, A... ORPHA:93274
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 2
Flexion contracture, Congenital muscular dystrophy, Muscular dystrophy, Hyperlordosis, Respirator... OMIM:613156
Thanatophoric Dysplasia Type 1
Brachydactyly, Bowing of the long bones, Kyphosis, Short greater sciatic notch, Joint stiffness, ... ORPHA:1860
Aicardi Syndrome
Hiatus hernia, Butterfly vertebrae, Block vertebrae, Missing ribs, Supernumerary ribs, Bifid ribs... ORPHA:50
Spondylodysplastic Ehlers-Danlos Syndrome
Coronal cleft vertebrae, Generalized osteoporosis, Radial head subluxation, Generalized joint lax... ORPHA:536471
Aicardi Syndrome
Hiatus hernia, Recurrent pneumonia, Block vertebrae, Missing ribs, Supernumerary ribs, Bifid ribs... OMIM:304050
Isolated Klippel-Feil Syndrome
Abnormality of the vertebral column, Abnormal sacrum morphology, Cervical C2/C3 vertebral fusion,... ORPHA:2345
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14
Abnormal distal phalanx morphology of finger, Diastasis recti, Metaphyseal spurs, Abnormality of ... ORPHA:96334
Hypo- And Hypermelanotic Cutaneous Macules-Retarded Growth-Intellectual Disability Syndrome
Abnormal rib morphology ORPHA:2435
Mitochondrial Dna Depletion Syndrome, Myopathic Form
Severe sensorineural hearing impairment, Recurrent pneumonia, Skeletal muscle atrophy, Respirator... ORPHA:254875
Heart Defects-Limb Shortening Syndrome
Kyphosis, Abnormal form of the vertebral bodies, Abnormal rib morphology, Abnormality of the meta... ORPHA:1354
Ehlers-Danlos Syndrome, Beasley-Cohen Type
Hyperextensible skin, Joint laxity, Excessive skin wrinkling on dorsum of hands and fingers, Ingu... OMIM:608763
Odontochondrodysplasia 1
Coronal cleft vertebrae, Genu varum, Delayed ossification of carpal bones, Osteoporosis, Scoliosi... OMIM:184260
Cooper-Jabs Syndrome
Abnormal hip bone morphology, Missing ribs, Conductive hearing impairment, Atresia of the externa... ORPHA:1488
Cranioectodermal Dysplasia 4
Recurrent pneumonia, Broad phalanx of the toes, Sagittal craniosynostosis, Cutis laxa, Pectus exc... OMIM:614378
Neurogenic Arthrogryposis Multiplex Congenita
Flexion contracture, Skeletal muscle atrophy, Lower limb muscle weakness, Rocker bottom foot, Ank... ORPHA:1143
Geroderma Osteodysplastica
Hyperextensible skin, Abnormal form of the vertebral bodies, Vertebral compression fracture, Abno... ORPHA:2078
Macs Syndrome
Brachydactyly, Hyperextensible skin, Osteoporosis, Cutis laxa, Bronchiectasis, Joint hypermobilit... OMIM:613075
Perching Syndrome
Camptodactyly, Flexion contracture, Dysphagia, Respiratory distress OMIM:617055
Sprengel Deformity
Shoulder muscle hypoplasia, Scoliosis, Neck muscle hypoplasia, Sprengel anomaly, Spina bifida occ... OMIM:184400
Man1B1-Cdg
Short neck, 2-3 toe syndactyly, Low-set ears, Clinodactyly of the 5th finger, Cutis laxa, Joint h... ORPHA:397941
Short Stature, Amelogenesis Imperfecta, And Skeletal Dysplasia With Scoliosis
Advanced ossification of carpal bones, Coronal cleft vertebrae, Flattened epiphysis, Coxa valga, ... OMIM:618363
Proximal 16P11.2 Microdeletion Syndrome
Craniosynostosis, Sensorineural hearing impairment, Conductive hearing impairment, Abnormal verte... ORPHA:261197
B4Galt7-Related Spondylodysplastic Ehlers-Danlos Syndrome
Hyperextensible skin, Flexion contracture, Long toe, Skeletal muscle atrophy, Osteopenia, Cutis l... ORPHA:75496
Myopathy, Centronuclear, 1
Flexion contracture, Hyperlordosis, EMG: myopathic abnormalities, Type 1 muscle fiber predominanc... OMIM:160150
Calpain-3-Related Limb-Girdle Muscular Dystrophy R1
Pelvic girdle amyotrophy, Flexion contracture, Lower limb muscle weakness, Muscular dystrophy, Hy... ORPHA:267
Rafiq Syndrome
Flexion contracture, Short neck, Low-set ears, Clinodactyly of the 5th finger, Joint laxity, Cuti... OMIM:614202
Cutis Laxa, Autosomal Recessive, Type Iiia
Wormian bones, Low-set ears, Congenital hip dislocation, Cutis laxa, Pectus excavatum, Inguinal h... OMIM:219150
Hereditary Myopathy With Early Respiratory Failure
Muscle fiber hypertrophy, Foot dorsiflexor weakness, Restrictive ventilatory defect, Skeletal mus... ORPHA:178464
Musculocontractural Ehlers-Danlos Syndrome
Cervical kyphosis, Tapered finger, Generalized joint laxity, Inguinal hernia, Scoliosis, Arthrogr... ORPHA:2953
Cutis Laxa, Neonatal, With Marfanoid Phenotype
Emphysema, Cutis laxa, Congenital diaphragmatic hernia, Arachnodactyly, Hip dislocation OMIM:614100
Uruguay Faciocardiomusculoskeletal Syndrome
Kyphosis, Dislocation of toes, Low-set ears, Congenital hip dislocation, Scoliosis, Posteriorly r... OMIM:300280
Schwartz-Jampel Syndrome
Abnormally straight spine, Osteoporosis, Abnormal rib morphology, Inguinal hernia, Protrusio acet... ORPHA:800
Intellectual Developmental Disorder With Speech Delay And Axonal Peripheral Neuropathy
Kyphoscoliosis, Respiratory distress, Distal amyotrophy OMIM:619099
Lethal Congenital Contracture Syndrome Type 1
Abnormal hip bone morphology, Short neck, Abnormal form of the vertebral bodies, Recurrent fractu... ORPHA:1486
Axial Spondylometaphyseal Dysplasia
Cupped ribs, Abnormal ilium morphology, Delayed ossification of carpal bones, Aplasia/Hypoplasia ... ORPHA:168549
Myotonia Permanens
Generalized muscle hypertrophy, Asthma, Hyperlordosis, Dyspnea, Skeletal muscle hypertrophy, Dysp... ORPHA:99735
Coffin-Lowry Syndrome
Narrow iliac wing, Tapered finger, Scoliosis, Protruding ear, Death in early adulthood, Brachydac... ORPHA:192
Spondyloepiphyseal Dysplasia Congenita
Limitation of knee mobility, Delayed calcaneal ossification, Scoliosis, Hip dislocation, Short ne... OMIM:183900
Kyphomelic Dysplasia
Bowing of the long bones, Anterior rib cupping, Missing ribs, Abnormal form of the vertebral bodi... ORPHA:1801
Myopathy And Diabetes Mellitus
Achilles tendon contracture, Skeletal myopathy, Sternocleidomastoid amyotrophy, Weakness of orbic... ORPHA:2596
Lethal Recessive Chondrodysplasia
Flared elbow metaphyses, Macroglossia, Generalized osteosclerosis, Respiratory distress, Short lo... ORPHA:1423
Fibrochondrogenesis 1
Fibular hypoplasia, Posterior vertebral hypoplasia, Clinodactyly of the 5th finger, Widely patent... OMIM:228520
Fibrochondrogenesis
Brachydactyly, Short neck, Abnormal form of the vertebral bodies, Low-set ears, Short ribs, Narro... ORPHA:2021
Craniofaciofrontodigital Syndrome
Finger joint hypermobility, Osteopenia, Palmoplantar cutis laxa, Joint laxity, Osteoporosis, Cuti... ORPHA:363705
1P36 Deletion Syndrome
Foot polydactyly, 11 pairs of ribs, Clinodactyly of the 5th finger, Bifid ribs, Scoliosis, Spinal... ORPHA:1606
Dyggve-Melchior-Clausen Disease
Abnormality of the vertebral column, Abnormal hip bone morphology, Abnormal pelvis bone morpholog... ORPHA:239
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome
Bowing of the long bones, Short neck, Low-set ears, Abnormality of epiphysis morphology, Decrease... ORPHA:93267
Myasthenic Syndrome, Congenital, 6, Presynaptic
Type 2 muscle fiber atrophy, Respiratory insufficiency due to muscle weakness, Sudden episodic ap... OMIM:254210
Charcot-Marie-Tooth Disease Type 1B
Scoliosis, Skeletal muscle hypertrophy, Hearing impairment, Skeletal muscle atrophy ORPHA:101082
Cutis Laxa-Marfanoid Syndrome
Emphysema, Flexion contracture, Congenital diaphragmatic hernia, Arachnodactyly, Redundant skin, ... ORPHA:171719
Shox-Related Short Stature
Short neck, Ulnar radial head dislocation, Tibial bowing, Madelung deformity, Scoliosis, Lower li... ORPHA:314795
Cutis Laxa, Autosomal Recessive, Type Iia
Low-set ears, Congenital hip dislocation, Cutis laxa, Joint hypermobility, Inguinal hernia, Scoli... OMIM:219200
Progeroid Syndrome, Petty Type
Decreased skull ossification, Cutis laxa, Low-set, posteriorly rotated ears, Wide anterior fontan... ORPHA:2963
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 3
Skeletal muscle hypertrophy, Muscular dystrophy, Hyperlordosis OMIM:613157
Hemihyperplasia, Isolated
Scoliosis, Myelomeningocele, Skeletal muscle hypertrophy OMIM:235000
Osteogenesis Imperfecta
Fractures of the long bones, Cervical kyphosis, Abnormal hip bone morphology, Osteoporosis, Decre... ORPHA:666
Geroderma Osteodysplasticum
Wormian bones, Osteopenia, Vertebral compression fracture, Recurrent fractures, Tibial bowing, Be... OMIM:231070
Myasthenic Syndrome, Congenital, 4A, Slow-Channel
Type 2 muscle fiber atrophy, Limb muscle weakness, Respiratory insufficiency due to muscle weakne... OMIM:605809
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 6
Achilles tendon contracture, Congenital muscular dystrophy, Muscular dystrophy, EMG: myopathic ab... OMIM:608840
Odontochondrodysplasia
Bowing of the long bones, Coxa valga, Square pelvis bone, Short palm, Cone-shaped epiphysis, Plat... ORPHA:166272
Lethal Osteosclerotic Bone Dysplasia
Short neck, Low-set ears, Respiratory failure, Dyspnea, Posteriorly rotated ears, Delayed cranial... ORPHA:1832
Lung Agenesis-Heart Defect-Thumb Anomalies Syndrome
Abnormal thumb morphology, Abnormal helix morphology, Triphalangeal thumb, Short thumb, Congenita... ORPHA:1120
Chromosome 1P36 Deletion Syndrome, Distal
11 pairs of ribs, Clinodactyly of the 5th finger, Bifid ribs, Scoliosis, Dysphagia, Polyphagia, T... OMIM:607872
X-Linked Charcot-Marie-Tooth Disease Type 5
Scoliosis, Kyphosis, Skeletal muscle hypertrophy, Hearing impairment ORPHA:99014
C Syndrome
Clinodactyly, Toe syndactyly, Postaxial foot polydactyly, Low-set ears, Dislocated radial head, S... OMIM:211750
Kniest Dysplasia
Coronal cleft vertebrae, Enlarged joints, Short neck, Delayed epiphyseal ossification, Tracheomal... OMIM:156550
Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans
Kyphosis, Sleep apnea, Platyspondyly, Pulmonary arterial hypertension, Lumbar hyperlordosis, Cent... OMIM:616482
Mitochondrial Complex I Deficiency, Nuclear Type 30
Neonatal death, Respiratory failure, Redundant skin OMIM:301021
Spondyloepimetaphyseal Dysplasia, Irapa Type
Synostosis of carpal bones, Short palm, Abnormality of epiphysis morphology, Short metacarpal, Up... ORPHA:93351
Leri-Weill Dyschondrosteosis
Dorsal subluxation of ulna, Hypoplasia of the ulna, Coxa valga, Abnormal femoral neck morphology,... OMIM:127300
Rin2 Syndrome
Brachydactyly, Hyperextensible skin, Increased susceptibility to fractures, Joint hypermobility, ... ORPHA:217335
De Barsy Syndrome
Large earlobe, Dermal translucency, Wormian bones, Osteopenia, Low-set ears, Delayed closure of t... ORPHA:2962
Autosomal Recessive Robinow Syndrome
Abnormal hip bone morphology, Sandal gap, Clinodactyly of the 5th finger, Inguinal hernia, Scolio... ORPHA:1507
Congenital Myasthenic Syndrome
Central sleep apnea, Dysphagia, Arthrogryposis multiplex congenita, EMG: myopathic abnormalities,... ORPHA:590
Presynaptic Congenital Myasthenic Syndromes
Central sleep apnea, Dysphagia, Arthrogryposis multiplex congenita, EMG: myopathic abnormalities,... ORPHA:98914
Spondylomegaepiphyseal Dysplasia With Upper Limb Mesomelia, Punctate Calcifications, And Deafness
Cupped ribs, Brachydactyly, Broad toe, Hypoplastic pubic bone, Delayed ossification of carpal bon... OMIM:609616
Arterial Tortuosity Syndrome
Hiatus hernia, Flexion contracture, Soft, doughy skin, Joint laxity, Congenital diaphragmatic her... OMIM:208050
Cutis Laxa, Autosomal Recessive, Type Iib
Bowing of the long bones, Osteopenia, Congenital hip dislocation, Joint hypermobility, Scoliosis,... OMIM:612940
Mesomelic Dysplasia, Kantaputra Type
Synostosis of carpal bones, Clinodactyly of the 5th finger, Abnormality of fibula morphology, Abn... ORPHA:1836
Classical-Like Ehlers-Danlos Syndrome Type 2
Abnormality of toe, Shoulder dislocation, Hammertoe, Equinus calcaneus, Sandal gap, Inguinal hern... ORPHA:536532
Mosaic Trisomy 14
Short neck, Narrow chest, Microtia, Abnormal rib morphology, Low-set, posteriorly rotated ears, C... ORPHA:1703
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly
Brachydactyly, Horizontal ribs, Low-set ears, Short ribs, Lateral clavicle hook, Respiratory fail... OMIM:617895
Phaver Syndrome
Myelomeningocele, Pterygium, Abnormal form of the vertebral bodies, Low-set ears, Joint stiffness... ORPHA:2876
Ehlers-Danlos Syndrome, Dermatosparaxis Type
Osteopenia, Soft, doughy skin, Delayed closure of the anterior fontanelle, Joint laxity, Short ph... OMIM:225410
Ehlers-Danlos Syndrome, Classic Type, 2
Hyperextensible skin, Soft, doughy skin, Congenital hip dislocation, Generalized joint laxity, Jo... OMIM:130010
Spondylocostal Dysostosis With Anal Atresia And Urogenital Anomalies
Block vertebrae, Short neck, Missing ribs, Short ribs, Supernumerary vertebrae, Thin ribs, Inguin... OMIM:271520
Isolated Congenital Hypoglossia/Aglossia
Aplasia/Hypoplasia of fingers, Dyspnea, Upper airway obstruction, Respiratory distress, Aspiratio... ORPHA:141152
Congenital Disorder Of Glycosylation, Type Iy
Clinodactyly, Joint dislocation, Scoliosis, Macrotia, Respiratory distress OMIM:300934
Mucopolysaccharidosis, Type Iva
Large elbow, Osteoporosis, Inguinal hernia, Scoliosis, Pointed proximal second through fifth meta... OMIM:253000
Diaphanospondylodysostosis
Missing ribs, Short neck, Tracheomalacia, Low-set ears, Hammertoe, Lumbosacral meningocele, Respi... OMIM:608022
6P22 Microdeletion Syndrome
Clinodactyly, Short neck, Finger syndactyly, Low-set ears, Overfolded helix, Redundant skin, Hear... ORPHA:251046
Intellectual Disability-Myopathy-Short Stature-Endocrine Defect Syndrome
Abnormal pinna morphology, Abnormal hip bone morphology, Skeletal muscle atrophy, Craniofacial hy... ORPHA:3068
Craniodiaphyseal Dysplasia
Craniofacial hyperostosis, Conductive hearing impairment, Diaphyseal thickening, Abnormal rib mor... ORPHA:1513
Congenital Muscular Dystrophy-Respiratory Failure-Skin Abnormalities-Joint Hyperlaxity Syndrome
Minicore myopathy, Multiple joint contractures, Dry skin, Joint laxity, Increased variability in ... ORPHA:486815
Severe X-Linked Mitochondrial Encephalomyopathy
Respiratory insufficiency, Increased variability in muscle fiber diameter, Respiratory distress, ... ORPHA:238329
Wolf-Hirschhorn Syndrome
Abnormality of the vertebral column, Hypoplastic pubic rami, Kyphosis, Abnormal form of the verte... ORPHA:280
Occipital Horn Syndrome
Osteoporosis, Broad clavicles, Narrow chest, Genu valgum, Limited elbow extension, Short humerus,... OMIM:304150
Jeune Syndrome
Brachydactyly, Toe syndactyly, Abnormality of pelvic girdle bone morphology, Short thorax, Postax... ORPHA:474
Cutis Laxa, Autosomal Dominant 3
Wormian bones, Osteopenia, Low-set ears, Cutis laxa, Adducted thumb, Premature skin wrinkling, De... OMIM:616603
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome
Anterior atlanto-occipital dislocation, Tracheomalacia, Large joint dislocations, Osteoporosis, S... ORPHA:536467
Symptomatic Form Of Muscular Dystrophy Of Duchenne And Becker In Female Carriers
Thoracic scoliosis, Thoracic kyphosis, Absent muscle dystrophin expression, Abnormality of the sh... ORPHA:206546
Leukodystrophy, Hypomyelinating, 17
Kyphoscoliosis, Flexion contracture, Respiratory distress OMIM:618006
Kyphoscoliotic Ehlers-Danlos Syndrome Due To Fkbp22 Deficiency
Hyperextensible skin, Osteopenia, Skeletal muscle atrophy, Sensorineural hearing impairment, Join... ORPHA:300179
Acrocapitofemoral Dysplasia
Cupped ribs, Genu varum, Small finger, Delayed ossification of carpal bones, Cone-shaped metacarp... OMIM:607778
Spondylometaphyseal Dysplasia, Sedaghatian Type
Cupped ribs, Cone-shaped metacarpal epiphyses, 11 pairs of ribs, Short toe, Narrow greater sciati... OMIM:250220
Ogden Syndrome
Low-set ears, Broad hallux, Cutis laxa, Inguinal hernia, Scoliosis, Macrotia, Delayed cranial sut... ORPHA:276432
Pseudoxanthoma Elasticum-Like Skin Manifestations With Retinitis Pigmentosa
Increased number of skin folds, Redundant skin, Cutis laxa ORPHA:436274
Congenital Disorder Of Glycosylation, Type Iig
Short neck, Osteopenia, Microtia, Abnormal rib morphology, Low-set, posteriorly rotated ears, Sco... OMIM:611209
Mucopolysaccharidosis, Type Ivb
Osteoporosis, Inguinal hernia, Scoliosis, Pointed proximal second through fifth metacarpals, Meta... OMIM:253010
Myotubular Myopathy With Abnormal Genital Development
Thin ribs, Joint hypermobility, Atelectasis, Myopathy, Respiratory distress, Neonatal death, Deat... OMIM:300219
Aarskog-Scott Syndrome
Short neck, Hyperextensible skin, Abnormality of the cervical spine, Finger syndactyly, Abnormal ... ORPHA:915
Sialidosis Type 2
Kyphosis, Flexion contracture, Short thorax, Skeletal muscle atrophy, Osteoporosis, Dyspnea, Ingu... ORPHA:87876
Synaptic Congenital Myasthenic Syndromes
Type 2 muscle fiber atrophy, Hypoventilation, Skeletal muscle atrophy, Limited wrist extension, S... ORPHA:98915
Muscular Dystrophy-Dystroglycanopathy (Congenital With Or Without Impaired Intellectual Development), Type B, 5
Achilles tendon contracture, Restrictive ventilatory defect, Kyphosis, Congenital muscular dystro... OMIM:606612
Thanatophoric Dysplasia, Type Ii
Brachydactyly, Metaphyseal irregularity, Short greater sciatic notch, Short ribs, Wide-cupped cos... OMIM:187601
Lenz-Majewski Hyperostotic Dwarfism
Sensorineural hearing impairment, Diaphyseal thickening, Cutis laxa, Knee flexion contracture, In... OMIM:151050
Global Developmental Delay-Alopecia-Macrocephaly-Facial Dysmorphism-Structural Brain Anomalies Syndrome
Sacral dimple, Asthma, Sensorineural hearing impairment, Clinodactyly of the 5th finger, Tapered ... ORPHA:544488
Campomelic Dysplasia
Absent sternal ossification, Narrow iliac wing, Tracheomalacia, Poorly ossified cervical vertebra... OMIM:114290
Osteogenesis Imperfecta, Type Iii
Wormian bones, Decreased calvarial ossification, Kyphosis, Bowing of limbs due to multiple fractu... OMIM:259420
Spondylometaphyseal Dysplasia, Axial
Recurrent pneumonia, Anterior rib cupping, Short femoral neck, Proximal femoral metaphyseal irreg... OMIM:602271
Metaphyseal Chondrodysplasia, Schmid Type
Genu varum, Proximal femoral metaphyseal irregularity, Hip dysplasia, Bowing of the legs, Widened... ORPHA:174
Spondyloepimetaphyseal Dysplasia, X-Linked, With Hypomyelinating Leukodystrophy
Cone-shaped capital femoral epiphysis, Metaphyseal widening, Brachydactyly, Thoracic kyphosis, Sh... OMIM:300232
Craniodiaphyseal Dysplasia, Autosomal Dominant
Diaphyseal sclerosis, Craniofacial osteosclerosis, Hearing impairment, Craniofacial hyperostosis,... OMIM:122860
Mucopolysaccharidosis, Type Vi
Macroglossia, Inguinal hernia, Hypoplastic iliac wing, Anterior wedging of L2, Metaphyseal wideni... OMIM:253200
Melnick-Needles Syndrome
Abnormal rib morphology, Scoliosis, Narrow chest, Hip dislocation, Bowing of the long bones, Shor... ORPHA:2484
Cutis Laxa, Autosomal Dominant 2
Scoliosis, Premature skin wrinkling, Cutis laxa OMIM:614434
Meier-Gorlin Syndrome 1
Absent sternal ossification, Genu varum, Clinodactyly of the 5th finger, Atresia of the external ... OMIM:224690
Muscular Pseudohypertrophy-Hypothyroidism Syndrome
Umbilical hernia, Myopathy, Skeletal muscle hypertrophy, Macroglossia ORPHA:2349
Muscle Hypertrophy
Skeletal muscle hypertrophy OMIM:614160
Masticatory Muscles, Hypertrophy Of
Skeletal muscle hypertrophy OMIM:154850
Shprintzen-Goldberg Craniosynostosis Syndrome
Inguinal hernia, Scoliosis, Metaphyseal widening, Genu valgum, Supernumerary ribs, Lateral clavic... OMIM:182212
Intellectual Disability-Polydactyly-Uncombable Hair Syndrome
Toe syndactyly, Kyphosis, Short neck, Abnormality of epiphysis morphology, Metatarsus valgus, Apl... ORPHA:3082
Gapo Syndrome
Joint hypermobility, Wide anterior fontanel, Scoliosis, Bell-shaped thorax, Delayed cranial sutur... OMIM:230740
Pallister-Hall Syndrome
Toe syndactyly, Postaxial foot polydactyly, Radial head subluxation, Y-shaped metacarpals, Short ... OMIM:146510
Osteogenesis Imperfecta, Type Ix
Wormian bones, Decreased calvarial ossification, Kyphosis, Recurrent fractures, Multiple prenatal... OMIM:259440
Tetrasomy 5P
Short neck, Low-set ears, Clinodactyly of the 5th finger, Short hallux, Pectus excavatum, Pulmona... ORPHA:3309
Rippling Muscle Disease 2
Skeletal muscle hypertrophy, Abnormal skeletal muscle morphology OMIM:606072
Anoctamin-5-Related Limb-Girdle Muscular Dystrophy R12
Proximal muscle weakness in upper limbs, Increased variability in muscle fiber diameter, Hamstrin... ORPHA:206549
Myopathy, Congenital, With Fiber-Type Disproportion, X-Linked
Respiratory insufficiency due to muscle weakness, Myopathy, Type 1 fibers relatively smaller than... OMIM:300580
Spondyloepimetaphyseal Dysplasia, Irapa Type
Enlargement of the costochondral junction, Hypoplastic sacrum, Short palm, Short metacarpal, Uppe... OMIM:271650
White Forelock With Malformations
Finger syndactyly, Clinodactyly of the 5th finger, Abnormal rib morphology, Low-set, posteriorly ... ORPHA:2475
Short Stature, Optic Nerve Atrophy, And Pelger-Huet Anomaly
Brachydactyly, Short neck, Sandal gap, Cutis laxa, Syndactyly OMIM:614800
Klippel-Feil Syndrome 1, Autosomal Dominant
Cervical C2/C3 vertebral fusion, Short neck, Abnormality of limb bone morphology, Conductive hear... OMIM:118100
Spondyloepimetaphyseal Dysplasia, Borochowitz-Cormier-Daire Type
Irregular epiphyses, Narrow iliac wing, Bowing of the legs, Hypoplastic pubic bone, Ovoid vertebr... OMIM:608728
Mitochondrial Myopathy With Reversible Cytochrome C Oxidase Deficiency
Respiratory failure requiring assisted ventilation, Ragged-red muscle fibers, Macroglossia, Myopa... ORPHA:254864
Pseudoachondroplasia
Genu varum, Flared femoral metaphysis, Scoliosis, Irregular carpal bones, Metaphyseal widening, F... OMIM:177170
Trichothiodystrophy 8, Nonphotosensitive
Ankle clonus, Head titubation, Cutis laxa, Protruding ear OMIM:619691
Femoral-Facial Syndrome
Missing ribs, Inguinal hernia, Scoliosis, Hemivertebrae, Short fifth metatarsal, Rib fusion, Shor... OMIM:134780
Spondyloepimetaphyseal Dysplasia, Strudwick Type
Brachydactyly, Metaphyseal irregularity, Anterior rib cupping, Hypoplastic pubic bone, Delayed pu... OMIM:184250
Cog1-Cdg
Irregularity of vertebral bodies, Short neck, Coxa valga, Short long bone, Osteopenia, Microtia, ... ORPHA:263508
Severe Congenital Nemaline Myopathy
Nemaline bodies, Flexion contracture, Low-set ears, Skeletal muscle atrophy, Abnormality of the d... ORPHA:171430
Bone Dysplasia, Lethal Holmgren Type
Abnormal thumb morphology, Short neck, Abnormality of epiphysis morphology, Short ribs, Joint dis... ORPHA:1842
Acromesomelic Dysplasia 1
Lower thoracic kyphosis, Short toe, Ovoid vertebral bodies, Cone-shaped epiphyses of the phalange... OMIM:602875
Baller-Gerold Syndrome
Carpal synostosis, Scoliosis, Carpal bone aplasia, Bicoronal synostosis, Aplasia of metacarpal bo... OMIM:218600
Hypomyelination Neuropathy-Arthrogryposis Syndrome
Limitation of joint mobility, Respiratory distress ORPHA:2680
3M Syndrome
Horizontal ribs, Clinodactyly of the 5th finger, Scoliosis, Enlarged thorax, Protruding ear, Scap... ORPHA:2616
Short-Rib Thoracic Dysplasia 16 With Or Without Polydactyly
Brachydactyly, Short thorax, Low-set ears, Cone-shaped epiphyses of the phalanges of the hand, Sa... OMIM:617102
Congenital Disorder Of Glycosylation, Type Iu
Scoliosis, Respiratory distress, Neonatal respiratory distress, Death in infancy, Congenital cont... OMIM:615042
Septopreoptic Holoprosencephaly
Ethmoidal encephalocele, Dysphagia, Abnormal vertebral morphology, Abnormal rib morphology ORPHA:280195
Slc39A13-Related Spondylodysplastic Ehlers-Danlos Syndrome
Flat capital femoral epiphysis, Flattened epiphysis, Hyperextensible skin, Flexion contracture, S... ORPHA:157965
Microcephaly-Cervical Spine Fusion Anomalies Syndrome
Abnormal hip bone morphology, Kyphosis, Short neck, Low-set ears, Hyperlordosis, Abnormal rib mor... ORPHA:2522
Ehlers-Danlos Syndrome, Arthrochalasia Type, 1
Premature osteoarthritis, Hyperextensible skin, Kyphosis, Joint subluxation, Osteopenia, Joint la... OMIM:130060
Shprintzen-Goldberg Syndrome
Missing ribs, Inguinal hernia, Scoliosis, Aplasia/Hypoplasia of the abdominal wall musculature, P... ORPHA:2462
Pleural Mesothelioma
Abnormal respiratory system physiology, Pleural effusion, Abnormal thorax morphology, Cough, Dysp... ORPHA:50251
Aldh18A1-Related De Barsy Syndrome
Joint hyperflexibility, Hyperextensible skin ORPHA:35664
Spondylo-Ocular Syndrome
Thoracic kyphosis, Short neck, Facial hypotonia, Low-set ears, Hyperextensible skin, Osteoporosis... ORPHA:85194
Spinal muscular atrophy, type I, with congenital bone fractures
Flexion contracture, Osteopenia, Multiple prenatal fractures, Rocker bottom foot, Acute infantile... OMIM:271225
Cutis Laxa, Autosomal Recessive, Type Ia
Emphysema, Joint laxity, Congenital diaphragmatic hernia, Pectus excavatum, Inguinal hernia, Arac... OMIM:219100
Dysosteosclerosis
Narrow iliac wing, Hypoplastic vertebral bodies, Sclerosis of hand bone, Broad femoral neck, Scle... OMIM:224300
Brown-Vialetto-Van Laere Syndrome 1
Hand muscle atrophy, Kyphosis, Nocturnal hypoventilation, Sensorineural hearing impairment, Respi... OMIM:211530
Grant Syndrome
Bowing of the long bones, Wormian bones, Abnormality of pelvic girdle bone morphology, Joint disl... ORPHA:2097
Gaucher Disease Type 2
Flexion contracture, Abnormal pattern of respiration, Cough, Dysphagia, Respiratory distress ORPHA:77260
Zttk Syndrome
Cervical ribs, Kyphosis, Flexion contracture, Low-set ears, Hyperextensible skin, Craniosynostosi... OMIM:617140
Schneckenbecken Dysplasia
Advanced ossification of carpal bones, Brachydactyly, Metaphyseal irregularity, Anterior rib cupp... OMIM:269250
Dyggve-Melchior-Clausen Disease
Genu varum, Clinodactyly of the 5th finger, Hypoplastic iliac wing, Scoliosis, Metaphyseal wideni... OMIM:223800
Thanatophoric Dysplasia, Type I
Bowing of the long bones, Metaphyseal irregularity, Short greater sciatic notch, Short ribs, Wide... OMIM:187600
Cerebral-Cerebellar-Coloboma Syndrome, X-Linked
Apnea, Abnormal rib morphology, Posteriorly rotated ears, Low-set ears OMIM:300864
Periodontal Ehlers-Danlos Syndrome
Joint hyperflexibility, Hyperextensible skin ORPHA:75392
Shwachman-Diamond Syndrome 1
Enlargement of the costochondral junction, Anterior rib cupping, Ovoid vertebral bodies, Metaphys... OMIM:260400
Renpenning Syndrome
Abnormal thumb morphology, Joint stiffness, Skeletal muscle atrophy, Sensorineural hearing impair... ORPHA:3242
Rippling Muscle Disease 1
Skeletal muscle hypertrophy OMIM:600332
Achondrogenesis Type 1B
Short neck, Short thorax, Abnormal enchondral ossification, Abnormal rib morphology, Narrow chest... ORPHA:93298
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 3
Carpal bone hypoplasia, Metaphyseal irregularity, Hypoplasia of the ulna, Short neck, Short femor... OMIM:618395
Hyperparathyroidism, Transient Neonatal
Osteopenia, Short ribs, Thin ribs, Respiratory distress, Narrow chest, Femoral bowing OMIM:618188
Congenital Disorder Of Glycosylation, Type Iir
Cutis laxa, Low-set ears OMIM:301045
Pelviscapular Dysplasia
Brachydactyly, Abnormality of the joint spaces of the elbow, Short neck, Low-set ears, Congenital... ORPHA:93333
Juberg-Hayward Syndrome
Toe syndactyly, Hammertoe, Short thumb, Abnormal vertebral morphology, Abnormal rib morphology, H... ORPHA:2319
Axial Mesodermal Dysplasia Spectrum
Missing ribs, Short neck, Abnormal form of the vertebral bodies, Abnormality of pelvic girdle bon... ORPHA:1834
Frontometaphyseal Dysplasia 1
Long phalanx of finger, Increased density of long bone diaphyses, Scoliosis, Genu valgum, Scapula... OMIM:305620
Acropectorovertebral Dysplasia
Synostosis of carpal bones, Toe syndactyly, Finger syndactyly, Bifid distal phalanx of the thumb,... OMIM:102510
Kyphoscoliotic Ehlers-Danlos Syndrome Due To Lysyl Hydroxylase 1 Deficiency
Shoulder subluxation, Osteoporosis, Generalized joint laxity, Limb muscle weakness, Inguinal hern... ORPHA:1900
Hydrocephalus-Costovertebral Dysplasia-Sprengel Anomaly Syndrome
Brachydactyly, Abnormal form of the vertebral bodies, Low-set ears, Sandal gap, Abnormal rib morp... ORPHA:2180
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Microdeletion
Flexion contracture, Diastasis recti, Long toe, Coat hanger sign of ribs, Joint laxity, Respirato... ORPHA:254528
Spondylometaphyseal Dysplasia With Cone-Rod Dystrophy
Cupped ribs, Brachydactyly, Metaphyseal irregularity, Hypoplastic inferior ilia, Ovoid vertebral ... OMIM:608940
Spondylometaphyseal Dysplasia, A4 Type
Short palm, Platyspondyly, Flared, irregular rib ends, Limitation of joint mobility, Coxa vara ORPHA:168555
Cartilage-Hair Hypoplasia
Abnormal hip bone morphology, Abnormal distal phalanx morphology of finger, Abnormal bone ossific... ORPHA:175
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type
Wormian bones, Flexion contracture, Short neck, Low-set ears, Multiple prenatal fractures, Short ... OMIM:616897
Myhre Syndrome
Clinodactyly, Generalized muscle hypertrophy, Radial deviation of finger, Cone-shaped epiphysis, ... OMIM:139210
Autosomal Recessive Cutis Laxa Type 2, Classic Type
Low-set ears, Delayed closure of the anterior fontanelle, Excessive wrinkled skin, Congenital hip... ORPHA:357074
Platyspondylic Lethal Skeletal Dysplasia, Torrance Type
Hypoplastic ischia, Hypoplastic pubic bone, Short neck, Short ribs, Thin ribs, Decreased cranial ... OMIM:151210
Thoracolaryngopelvic Dysplasia
Horizontal ribs, Metaphyseal widening, Irregular chondrocostal junctions, Short ribs, Hypoplastic... OMIM:187760
Gamma-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R5
Achilles tendon contracture, Increased endomysial connective tissue, Increased variability in mus... ORPHA:353
Microphthalmia, Syndromic 3
Vertebral hypoplasia, Missing ribs, Supernumerary ribs, Sensorineural hearing impairment, Bilater... OMIM:206900
Holt-Oram Syndrome
Absent thumb, Kyphosis, Phocomelia, Finger syndactyly, Joint stiffness, Triphalangeal thumb, Abno... ORPHA:392
Mucopolysaccharidosis Type 4
Bowing of the long bones, Short neck, Kyphosis, Short thorax, Abnormality of epiphysis morphology... ORPHA:582
Congenital Muscular Dystrophy With Cerebellar Involvement
Congenital muscular dystrophy, Occipital encephalocele, Reduced muscle fiber alpha dystroglycan, ... ORPHA:370959
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 3
Flat capital femoral epiphysis, Flattened epiphysis, Hyperextensible skin, Camptodactyly of finge... OMIM:612350
Bronchopulmonary Dysplasia
Abnormal respiratory system physiology, Emphysema, Respiratory failure requiring assisted ventila... ORPHA:70589
Alg8-Cdg
Brachydactyly, Low-set ears, Cutis laxa, Macroglossia, Premature skin wrinkling, Camptodactyly ORPHA:79325
Stuve-Wiedemann Syndrome 1
Osteoporosis, Scoliosis, Short tibia, Dysphagia, Bowing of the long bones, Short neck, Metaphysea... OMIM:601559
Menkes Disease
Wormian bones, Joint laxity, Metaphyseal spurs, Osteoporosis, Cutis laxa, Death in childhood, Met... OMIM:309400
Rnf13-Related Severe Early-Onset Epileptic Encephalopathy
Finger joint hypermobility, Flexion contracture, Metacarpophalangeal joint contracture, Hyperexte... ORPHA:544503
Fountain Syndrome
Brachydactyly, Kyphosis, Abnormal form of the vertebral bodies, Hyperextensible skin, Craniofacia... ORPHA:3219
Brachytelephalangic Chondrodysplasia Punctata
Abnormality of the vertebral column, Cervical kyphosis, Vertebral hypoplasia, Coronal cleft verte... ORPHA:79345
Robinow Syndrome
Brachydactyly, Missing ribs, Low-set ears, Radioulnar dislocation, Bifid distal phalanx of the th... ORPHA:97360
Emphysema, Congenital Lobar
Respiratory distress OMIM:130710
Myhre Syndrome
Brachydactyly, Joint stiffness, Short palm, Abnormality of epiphysis morphology, Craniofacial hyp... ORPHA:2588
Elastosis Perforans Serpiginosa
Cutis laxa ORPHA:79148
Short-Rib Thoracic Dysplasia 11 With Or Without Polydactyly
Brachydactyly, Horizontal ribs, Short long bone, Lateral clavicle hook, Thoracic dysplasia, Respi... OMIM:615633
Mayer-Rokitansky-Küster-Hauser Syndrome Type 2
Vertebral segmentation defect, Abnormal rib morphology, Short neck, Hearing impairment ORPHA:2578
Lenz-Majewski Hyperostotic Dwarfism
Inguinal hernia, Scoliosis, Brachydactyly, Increased bone mineral density, Aplastic clavicle, Abn... ORPHA:2658
Greenberg Dysplasia
Hypoplastic vertebral bodies, Multiple prenatal fractures, 11 pairs of ribs, Decreased skull ossi... OMIM:215140
Osteogenesis Imperfecta, Type Ii
Wormian bones, Abnormality of pelvic girdle bone morphology, Recurrent fractures, Multiple prenat... OMIM:166210
Cutis Laxa, Autosomal Recessive, Type Iiib
Dermal translucency, Cutis laxa, Inguinal hernia, Posteriorly rotated ears, Elbow flexion contrac... OMIM:614438
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 2
Postaxial hand polydactyly, Hyperextensible skin OMIM:615937
Ossification Anomalies-Psychomotor Developmental Delay Syndrome
Slender long bone, Abnormal form of the vertebral bodies, Generalized bone demineralization, Club... ORPHA:73230
Dextrocardia With Unusual Facies And Microphthalmia
Vertebral segmentation defect, Supernumerary ribs, Vertebral fusion, Macrotia OMIM:221950
Hypertrophic Osteoarthropathy, Primary, Autosomal Recessive, 1
Clubbing, Wormian bones, Osteopenia, Limitation of joint mobility, Erythema, Osteoporosis, Pectus... OMIM:259100
Multiple Pterygium-Malignant Hyperthermia Syndrome
Kyphosis, Finger syndactyly, Skeletal muscle atrophy, Conductive hearing impairment, Tapered fing... ORPHA:2215
Costello Syndrome
Large earlobe, Short neck, Thickened Achilles tendon, Macroglossia, Low-set, posteriorly rotated ... ORPHA:3071
Wrinkly Skin Syndrome
Slender long bones with narrow diaphyses, Wormian bones, Osteopenia, Low-set ears, Delayed closur... ORPHA:2834
Cranioectodermal Dysplasia 2
Brachydactyly, Horizontal ribs, Clinodactyly, Craniosynostosis, Short neck, Low-set ears, Short r... OMIM:613610
Cleidocranial Dysplasia
Abnormal thumb morphology, Clinodactyly of the 5th finger, Tapered finger, Osteoporosis, Decrease... ORPHA:1452
Acro-Renal-Mandibular Syndrome
Rudimentary fibula, Hypoplasia of the ulna, Short neck, Kyphosis, Finger syndactyly, Rudimentary ... ORPHA:958
Renal Hypodysplasia/Aplasia 2
Redundant skin OMIM:615721
Granulomatous Slack Skin
Erythema, Redundant skin, Cutis laxa ORPHA:33111
Cleidocranial Dysplasia
Short middle phalanx of the 2nd finger, Hypoplastic iliac wing, Scoliosis, Narrow chest, Abnormal... OMIM:119600
Recombinant 8 Syndrome
Low-set ears, Clinodactyly of the 5th finger, Pectus excavatum, Scoliosis, Patellar aplasia, Camp... ORPHA:96167
Craniometadiaphyseal Dysplasia
Genu varum, Wormian bones, Coxa valga, Osteopenia, Low-set ears, Sclerosis of skull base, Flared ... OMIM:269300
Multiple Pterygium Syndrome, X-Linked
Flexion contracture, Low-set ears, Thin ribs, Joint dislocation, Increased susceptibility to frac... OMIM:312150
Immunodeficiency 49
Umbilical hernia, Wormian bones, Posteriorly rotated ears, Cutis laxa OMIM:617237
Leri Pleonosteosis
Brachydactyly, Abnormally straight spine, Joint stiffness, Abnormal form of the vertebral bodies,... ORPHA:2900
Trichorhinophalangeal Syndrome Type 2
Brachydactyly, Avascular necrosis of the capital femoral epiphysis, Cone-shaped epiphyses of the ... ORPHA:502
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 2
Muscular dystrophy, Skeletal muscle hypertrophy OMIM:613158
Achondrogenesis Type 1A
Short neck, Short thorax, Short palm, Abnormal enchondral ossification, Recurrent fractures, Mult... ORPHA:93299
Diamond-Blackfan Anemia 10
Supernumerary ribs, Low-set ears, Conductive hearing impairment, Atresia of the external auditory... OMIM:613309
Mucopolysaccharidosis Type 6
Sinusitis, Ovoid vertebral bodies, Kyphosis, Short neck, Joint stiffness, Macroglossia, Epiphysea... ORPHA:583
Poland Syndrome
Aplasia/Hypoplasia of the sternum, Abnormality of the ulna, Missing ribs, Finger symphalangism, A... ORPHA:2911
10Q22.3Q23.3 Microduplication Syndrome
Abnormal rib morphology, Abnormal clavicle morphology, Low-set ears ORPHA:276422
Multinucleated Neurons, Anhydramnios, Renal Dysplasia, Cerebellar Hypoplasia, And Hydranencephaly
Brachydactyly, Short neck, 2-3 toe syndactyly, Low-set ears, Cutaneous syndactyly, Clinodactyly o... OMIM:236500
Trichorhinophalangeal Syndrome, Type Ii
Redundant skin in infancy, Cone-shaped epiphyses of the phalanges of the hand, Scapular exostoses... OMIM:150230
Craniometadiaphyseal Dysplasia, Wormian Bone Type
Wormian bones, Coxa valga, Increased bone mineral density, Osteopenia, Broad femoral neck, Thin b... ORPHA:85184
Body Skin Hyperlaxity Due To Vitamin K-Dependent Coagulation Factor Deficiency
Redundant skin, Cutis laxa ORPHA:91135
Developmental And Epileptic Encephalopathy 30
Death in infancy, Respiratory distress OMIM:616341
Lethal Kniest-Like Dysplasia
Brachydactyly, Coronal cleft vertebrae, Anterior rib cupping, Short neck, Hypoplastic vertebral b... ORPHA:2347
Autosomal Dominant Cutis Laxa
Inguinal hernia, Scoliosis, Protruding ear, Hip dislocation, Emphysema, Adducted thumb, Genu recu... ORPHA:90348
Neonatal Marfan Syndrome
Emphysema, Flexion contracture, Hypoxemia, Low-set ears, Long toe, Crumpled ear, Cutis laxa, Join... ORPHA:284979
Cardiac-Valvular Ehlers-Danlos Syndrome
Tendon rupture, Sandal gap, Inguinal hernia, Recurrent shoulder dislocation, Hallux valgus, Genu ... ORPHA:230851
Myopathy, Myofibrillar, 9, With Early Respiratory Failure
Achilles tendon contracture, Pelvic girdle muscle weakness, Foot dorsiflexor weakness, Myofibrill... OMIM:603689
Dystonia 31
Dysphagia, Abnormal posturing OMIM:619565
Microcephaly-Seizures-Intellectual Disability-Heart Disease Syndrome
Short ribs, Abnormal rib morphology, Pulmonary arterial hypertension, Postaxial hand polydactyly,... ORPHA:2519
Arterial Tortuosity Syndrome
Hiatus hernia, Craniosynostosis, Hyperextensible skin, Coxa valga, Rocker bottom foot, Clinodacty... ORPHA:3342
Male Hypergonadotropic Hypogonadism-Intellectual Disability-Skeletal Anomalies Syndrome
Short neck, Abnormality of the humeroulnar joint, Abnormal form of the vertebral bodies, Abnormal... ORPHA:2234
Osteogenesis Imperfecta, Type Viii
Decreased calvarial ossification, Multiple prenatal fractures, Decreased skull ossification, Ingu... OMIM:610915
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia
Low-set ears, Metaphyseal cupping of proximal phalanges, Thin ribs, 11 pairs of ribs, Decreased s... OMIM:300863
Short Chain Acyl-Coa Dehydrogenase Deficiency
Myopathy, Respiratory distress ORPHA:26792
Epilepsy, Pyridoxine-Dependent
Neonatal respiratory distress, Respiratory distress OMIM:266100
Corpus Callosum, Agenesis Of, With Facial Anomalies And Robin Sequence
Brachydactyly, Clinodactyly, Short neck, Short palm, Tracheomalacia, Proximal placement of thumb,... OMIM:217980
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 1, With Or Without Fractures
Cupped ribs, Carpal synostosis, Radial head subluxation, 11 pairs of ribs, Osteoporosis, Abnormal... OMIM:271640
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 5
Achilles tendon contracture, Pelvic girdle muscle weakness, Restrictive ventilatory defect, Kypho... OMIM:607155
Three M Syndrome 2
Clinodactyly, Short neck, Short thorax, Thin ribs, Short 5th finger, Hyperlordosis, Lumbar hyperl... OMIM:612921
Schinzel-Giedion Syndrome
Abnormal thorax morphology, Macroglossia, Inguinal hernia, Sacrococcygeal teratoma, Scoliosis, Ab... ORPHA:798
Multiple Pterygium Syndrome, Lethal Type
Flexion contracture, Low-set ears, Thin ribs, Joint dislocation, Increased susceptibility to frac... OMIM:253290
Dysmorphism-Cleft Palate-Loose Skin Syndrome
Redundant skin ORPHA:1779
Moebius Syndrome
Brachydactyly, Clinodactyly, Abnormality of pelvic girdle bone morphology, Short neck, Split hand... OMIM:157900
Ogden Syndrome
Low-set ears, Broad hallux, Cutis laxa, Inguinal hernia, Facial wrinkling, Scoliosis, Macrotia, D... OMIM:300855
Achondrogenesis, Type Ia
Hypoplastic ischia, Short neck, Short ribs, Hypoplastic scapulae, Hypoplasia of the radius, Decre... OMIM:200600
Hypogonadism, Male, With Mental Retardation And Skeletal Anomalies
Superior rib anomalies, Abnormality of the cervical spine OMIM:307500
Kniest-Like Dysplasia, Lethal
Brachydactyly, Coronal cleft vertebrae, Metaphyseal irregularity, Short neck, Hypoplastic vertebr... OMIM:245190
X-Linked Centronuclear Myopathy
Necklace skeletal muscle fibers, Respiratory failure requiring assisted ventilation, Pneumonia, T... ORPHA:596
Thin Ribs-Tubular Bones-Dysmorphism Syndrome
Low-set, posteriorly rotated ears, Abnormality of pelvic girdle bone morphology, Slender long bon... ORPHA:1506
Arthrochalasia Ehlers-Danlos Syndrome
Hyperextensible skin, Coxa valga, Joint stiffness, Joint dislocation, Inguinal hernia, Scoliosis,... ORPHA:1899
Emanuel Syndrome
Supernumerary ribs, Sacral dimple, Multiple joint contractures, Low-set ears, Congenital hip disl... ORPHA:96170
Neurodevelopmental Disorder With Hypotonia, Facial Dysmorphism, And Brain Abnormalities
Flexion contracture, Low-set ears, Overlapping fingers, Scoliosis, Delayed cranial suture closure... OMIM:619383
Blepharonasofacial Malformation Syndrome
Finger syndactyly, External ear malformation, Inguinal hernia, Joint hyperflexibility, Redundant ... ORPHA:1252
Mosaic Trisomy 8
Abnormal pinna morphology, Short neck, Clinodactyly of the 5th finger, Narrow chest, Abnormal rib... ORPHA:96061
Congenital Diaphragmatic Hernia
Hypoxemia, Congenital diaphragmatic hernia, Aplasia/Hypoplasia of the diaphragm, Prominent sternu... ORPHA:2140
Wolf-Hirschhorn Syndrome
Short thumb, Scoliosis, Vertebral fusion, Decreased muscle mass, Hip dysplasia, Rib fusion, Hip d... OMIM:194190
Coffin-Lowry Syndrome
Narrow iliac wing, Kyphosis, Coxa valga, Delayed closure of the anterior fontanelle, Short metaca... OMIM:303600
Microcephaly-Polymicrogyria-Corpus Callosum Agenesis Syndrome
Respiratory distress ORPHA:171703
Bardet-Biedl Syndrome 16
Respiratory distress, Hearing impairment OMIM:615993
Cenani-Lenz Syndrome
Synostosis of carpal bones, Toe syndactyly, Hypoplasia of the ulna, Finger syndactyly, Abnormal f... ORPHA:3258
Progressive Supranuclear Palsy-Parkinsonism Syndrome
Neuromuscular dysphagia, Respiratory distress, Axial muscle stiffness ORPHA:240085
Vacterl/Vater Association
Abnormal sacrum morphology, Finger syndactyly, Occipital encephalocele, Anencephaly, Congenital d... ORPHA:887
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy
Abnormal 5th metacarpal morphology, Cone-shaped epiphysis, Tachypnea, Proximal femoral metaphysea... ORPHA:397715
Mucopolysaccharidosis, Type Iiia
Thickened ribs, Ovoid thoracolumbar vertebrae, Joint stiffness, Dense calvaria, Inguinal hernia, ... OMIM:252900
Osteomyelitis, Sterile Multifocal, With Periostitis And Pustulosis
Osteopenia, Periostitis, Flaring of rib cage, Osteomyelitis, Osteolysis, Respiratory distress, Fu... OMIM:612852
Lipodystrophy, Congenital Generalized, Type 4
Flexion contracture, Osteopenia, Muscular dystrophy, Hyperlordosis, Osteoporosis, Scoliosis, Skel... OMIM:613327
Radio-Renal Syndrome
Brachydactyly, Chylothorax, Short neck, Abnormal form of the vertebral bodies, Short palm, Respir... ORPHA:3015
Hypophosphatasia
Bowing of the long bones, Emphysema, Craniosynostosis, Recurrent fractures, Respiratory insuffici... ORPHA:436
Plectin-Related Limb-Girdle Muscular Dystrophy R17
Achilles tendon contracture, Axial muscle atrophy, Decreased cervical spine flexion due to contra... ORPHA:254361
Ifap Syndrome 1, With Or Without Bresheck Syndrome
Abnormality of the vertebral column, Abnormal vertebral morphology, Abnormal rib morphology, Ingu... OMIM:308205
Congenital Osteogenesis Imperfecta-Microcephaly-Cataracts Syndrome
Decreased calvarial ossification, Recurrent fractures, Abnormal rib morphology, Low-set, posterio... ORPHA:2772
Elastoderma
Premature skin wrinkling, Cutis laxa ORPHA:228240
Amyloidosis, Finnish Type
Cutis laxa OMIM:105120
Mucopolysaccharidosis, Type X
Posterior scalloping of vertebral bodies, Spatulate ribs, Irregular acetabular roof, Beaking of v... OMIM:619698
Cardiofaciocutaneous Syndrome
Abnormality of the ulna, Short neck, Hyperextensible skin, Excessive wrinkled skin, Pectus excava... ORPHA:1340
Kagami-Ogata Syndrome
Flexion contracture, Coxa valga, Diastasis recti, Thin ribs, Microtia, Inguinal hernia, Omphaloce... OMIM:608149
Congenital Hypothyroidism Due To Maternal Intake Of Antithyroid Drugs
Absent ossification of capital femoral epiphysis, Abnormality of epiphysis morphology, Macrogloss... ORPHA:226313
Kagami-Ogata Syndrome
Respiratory failure requiring assisted ventilation, Short neck, Coxa valga, Diastasis recti, Coat... ORPHA:254519
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 2
Increased variability in muscle fiber diameter, Muscular dystrophy, Macroglossia, Scoliosis, Skel... OMIM:613150
Metaphyseal Dysostosis, Mental Retardation, And Conductive Deafness
Cupped ribs, Genu varum, Narrow iliac wing, Scoliosis, Metaphyseal widening, Genu valgum, Brachyd... OMIM:250420
Otopalatodigital Syndrome Type 2
Carpal synostosis, Short thumb, Abnormal rib morphology, Scoliosis, Narrow chest, Encephalocele, ... ORPHA:90652
Cat-Eye Syndrome
Abnormal rib morphology, Hip dysplasia, Hearing impairment ORPHA:195
Spondylometaphyseal Dysplasia, 'Corner Fracture' Type
Genu varum, Clinodactyly, Vertebral hypoplasia, Small earlobe, Abnormal bone ossification, Hypopl... ORPHA:93315
Paramyotonia Congenita Of Von Eulenburg
Skeletal muscle hypertrophy, Inspiratory stridor OMIM:168300
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome
Absent thumb, Emphysema, Hyperextensibility at elbow, Cervical ribs, Soft, doughy skin, Low-set e... ORPHA:500150
Craniosynostosis, Herrmann-Opitz Type
Brachydactyly, Craniosynostosis, Finger syndactyly, Microtia, Abnormal rib morphology, Abnormal a... ORPHA:2145
Osteogenesis Imperfecta, Type Xv
Recurrent fractures, Thin ribs, Platyspondyly, Joint hypermobility, Scoliosis, Bowing of limbs du... OMIM:615220
Achondrogenesis, Type Ii
Horizontal ribs, Short ribs, Barrel-shaped chest, Hypoplastic iliac wing, Short long bone, Broad ... OMIM:200610
Congenital Disorder Of Glycosylation, Type Ie
Short palm, Upper limb undergrowth, Muscular dystrophy, Ankle flexion contracture, Knee flexion c... OMIM:608799
Episodic Ataxia Type 1
Kyphoscoliosis, Scoliosis, Respiratory distress, Calf muscle hypertrophy ORPHA:37612
Spondyloepimetaphyseal Dysplasia, Missouri Type
Genu varum, Flattened epiphysis, Flared iliac wing, Tibial bowing, Pear-shaped vertebrae, Osteoar... OMIM:602111
Aspergillosis
Abnormality of the vertebral column, Sinusitis, Pneumonia, Abnormality on pulmonary function test... ORPHA:1163
Pallister-Hall Syndrome
Distal arthrogryposis, Mesoaxial polydactyly, Radial head subluxation, Supernumerary metacarpal b... ORPHA:672
Myotonia Congenita, Autosomal Recessive
Muscle hypertrophy of the lower extremities, Skeletal muscle hypertrophy, Dysphagia OMIM:255700
Recurrent Respiratory Papillomatosis
Nonproductive cough, Recurrent pneumonia, Choking episodes, Tracheomalacia, Tachypnea, Dyspnea, A... ORPHA:60032
Cardiomyopathy-Hypotonia-Lactic Acidosis Syndrome
Myopathy, Respiratory distress ORPHA:91130
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type
Short palm, Low-set ears, Thin ribs, Metaphyseal chondrodysplasia, Platyspondyly, Hypoplastic ili... ORPHA:163966
Satoyoshi Syndrome
Brachydactyly, Short metacarpal, Osteolytic defects of the phalanges of the hand, Skeletal muscle... OMIM:600705
Renal Dysplasia-Limb Defects Syndrome
Short neck, Phocomelia, Low-set ears, Short sternum, Short ribs, Thin ribs, Short metacarpal, Res... OMIM:266910
Lethal Congenital Contracture Syndrome 1
Skeletal muscle atrophy, Widening of cervical spinal canal, Abnormal thorax morphology, Arthrogry... OMIM:253310
Cutis Laxa, Autosomal Recessive, Type Ib
Emphysema, Low-set ears, Cutis laxa, Congenital diaphragmatic hernia, Inguinal hernia, Pectus exc... OMIM:614437
Congenital Disorder Of Glycosylation, Type Iq
Cutis laxa, Low-set ears OMIM:612379
Autosomal Dominant Centronuclear Myopathy
Proximal muscle weakness in upper limbs, Proximal muscle weakness in lower limbs, Thin ribs, EMG:... ORPHA:169189
Mucopolysaccharidosis-Plus Syndrome
Clubbing, Recurrent pneumonia, Flexion contracture, Short neck, Flared iliac wing, Pectus excavat... OMIM:617303
Hyperkalemic Periodic Paralysis
Flexion contracture, Skeletal muscle atrophy, Myopathy, Skeletal muscle hypertrophy, Respiratory ... ORPHA:682
Prune Belly Syndrome
Congenital hip dislocation, Abnormal rib morphology, Pectus excavatum, Scoliosis, Aplasia of the ... ORPHA:2970
C Syndrome
Toe syndactyly, Hypoplasia of the ear cartilage, Short neck, Sacral dimple, Dislocated radial hea... ORPHA:1308
Focal Facial Dermal Dysplasia Type Iii
Abnormal sacroiliac joint morphology, Redundant skin ORPHA:1807
Trisomy 13
Abnormality of pelvic girdle bone morphology, Kyphosis, Abnormal helix morphology, Low-set ears, ... ORPHA:3378
Frank-Ter Haar Syndrome
Osteoporosis, Broad clavicles, Protruding ear, Anterior concavity of thoracic vertebrae, Hip dysp... OMIM:249420
Spondyloepimetaphyseal Dysplasia, Shohat Type
Genu varum, Narrow vertebral interpedicular distance, Scoliosis, Metaphyseal widening, Central ve... ORPHA:93352
Cranioectodermal Dysplasia 3
Brachydactyly, Sandal gap, Sagittal craniosynostosis, Joint laxity, Cutis laxa, Postaxial polydac... OMIM:614099
Myotonia, Potassium-Aggravated
Stridor, Skeletal muscle hypertrophy, Apneic episodes in infancy OMIM:608390
Fibrinolytic Defect
Hyperextensible skin OMIM:134900
Kyphoscoliotic Ehlers-Danlos Syndrome
Shoulder dislocation, Osteoporosis, Inguinal hernia, Scoliosis, Hip dislocation, Skeletal muscle ... ORPHA:536545
Atelosteogenesis, Type I
Coronal cleft vertebrae, Vertebral hypoplasia, Thoracic platyspondyly, 11 pairs of ribs, Narrow c... OMIM:108720
Ehlers-Danlos Syndrome, Periodontal Type, 1
Hyperextensible skin, Palmoplantar cutis laxa, Joint laxity, Generalized joint laxity, Inguinal h... OMIM:130080
Fontaine Progeroid Syndrome
Absent distal phalanges, Scoliosis, Death in infancy, Left ventricular hypertrophy, Hypoplasia of... OMIM:612289
Osteogenesis Imperfecta, Type Xviii
Bowing of the long bones, Generalized osteoporosis, Wormian bones, Vertebral compression fracture... OMIM:617952
Viss Syndrome
Generalized joint laxity, Macroglossia, Inguinal hernia, Scoliosis, Dysphagia, Genu valgum, Hip d... OMIM:619472
Lethal Congenital Contracture Syndrome 5
Flexion contracture, Thin ribs, Respiratory insufficiency, Death in infancy, Centrally nucleated ... OMIM:615368
Hurler Syndrome
Short neck, Abnormality of epiphysis morphology, Abnormal vertebral morphology, Abnormal rib morp... ORPHA:93473
Peroxisome Biogenesis Disorder 1A (Zellweger)
Abnormal helix morphology, Low-set ears, Rocker bottom foot, Sensorineural hearing impairment, Ep... OMIM:214100
Chondrodysplasia, Lethal, With Long Bone Angulation And Mixed Bone Density
Hypoplasia of the ulna, Lumbar platyspondyly, Fibular hypoplasia, Hypoplasia of the radius, Absen... OMIM:601376
Oculocerebrocutaneous Syndrome
Missing ribs, Finger syndactyly, Aplasia/Hypoplasia of the distal phalanges of the toes, Congenit... ORPHA:1647
Laryngotracheoesophageal Cleft Type 4
Respiratory insufficiency, Abnormal form of the vertebral bodies, Abnormal rib morphology ORPHA:93941
Ehlers-Danlos Syndrome, Classic Type, 1
Hyperextensibility at elbow, Hyperextensibility of the knee, Hyperextensible skin, Joint dislocat... OMIM:130000
Chromosome 18P Deletion Syndrome
Clinodactyly, Radial deviation of finger, Macrotia, Redundant neck skin OMIM:146390
Acromesomelic Dysplasia 4
Genu varum, Prominent deltoid tuberosities, Thoracic platyspondyly, Sandal gap, Short toe, Genu v... OMIM:619636
Acetazolamide-Responsive Myotonia
Skeletal muscle hypertrophy, Dysphagia ORPHA:99736
Macular Degeneration, Age-Related, 3
Joint hypermobility, Hyperextensible skin, Distal amyotrophy OMIM:608895
Acrofrontofacionasal Dysostosis 2
Sacral dimple, Low-set ears, Hand polydactyly, Broad hallux, Overfolded helix, Posteriorly rotate... OMIM:239710
Microcephalic Primordial Dwarfism, Toriello Type
Brachydactyly, Abnormality of epiphysis morphology, Abnormal rib morphology ORPHA:2643
Brody Disease
Skeletal muscle hypertrophy, Flexion contracture OMIM:601003
Mucopolysaccharidosis, Type Iiid
Achilles tendon contracture, Ovoid thoracolumbar vertebrae, Thoracic scoliosis, Thickened ribs, S... OMIM:252940
Ehlers-Danlos Syndrome, Musculocontractural Type, 1
Hiatus hernia, Distal arthrogryposis, Hyperextensible skin, Ecchymosis, Diastasis recti, Joint la... OMIM:601776
Vertebral Hypersegmentation And Orofacial Anomalies
Supernumerary ribs, Pectus excavatum, Darwin tubercle of helix, Inguinal hernia, Joint hypermobil... OMIM:619122
Amyloidosis, Primary Localized Cutaneous, 1
Scaling skin, Dry skin, Cutis laxa OMIM:105250
Pierre Robin Sequence With Pectus Excavatum And Rib And Scapular Anomalies
Joint hypermobility, Hypoplastic distal segments of scapulae, Abnormal rib morphology, Pectus exc... OMIM:602196
Marfanoid Habitus-Autosomal Recessive Intellectual Disability Syndrome
Small hypothenar eminence, Osteopenia, Lumbar hemivertebrae, Thin ribs, Thenar muscle atrophy, Th... ORPHA:2463
Gaucher Disease, Perinatal Lethal
Petechiae, Low-set ears, Neonatal death, Microtia, Dysphagia, Arthrogryposis multiplex congenita,... OMIM:608013
Mohr-Tranebjaerg Syndrome
Increased susceptibility to fractures, Progressive sensorineural hearing impairment, Dysphagia, P... OMIM:304700
Osteoglophonic Dysplasia
Bowing of the long bones, Craniosynostosis, Short neck, Short palm, Low-set ears, Short metacarpa... OMIM:166250
Holzgreve Syndrome
Abnormality of the ulna, Joint stiffness, Hand polydactyly, Abnormal rib morphology, Low-set, pos... ORPHA:2167
Lipodystrophy, Familial Partial, Type 4
Skeletal muscle hypertrophy OMIM:613877
Carpenter Syndrome 2
Brachydactyly, Craniosynostosis, Short neck, Low-set ears, Postaxial polydactyly, Aplasia of the ... OMIM:614976
Cardiac Valvular Dysplasia, X-Linked
Joint laxity, Joint stiffness, Cutis laxa OMIM:314400
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins
Butterfly vertebrae, Low-set ears, Diastasis recti, Neonatal death, Posterior rib fusion, Pleural... OMIM:265380
Ichthyosis-Alopecia-Eclabion-Ectropion-Intellectual Disability Syndrome
Scaling skin, Dry skin, Cutis laxa ORPHA:2269
Osteogenesis Imperfecta, Type X
Bowing of the long bones, Osteopenia, Vertebral compression fracture, Thin ribs, Joint laxity, Ge... OMIM:613848
Alg12-Cdg
Recurrent pneumonia, Short long bone, Chronic rhinitis, Sensorineural hearing impairment, Sandal ... ORPHA:79324
Classical-Like Ehlers-Danlos Syndrome Type 1
Hyperextensible skin, Skeletal muscle atrophy, Joint hypermobility, Spina bifida occulta, Joint h... ORPHA:230839
Gapo Syndrome
Abnormality of pelvic girdle bone morphology, Hyperextensible skin, Abnormal form of the vertebra... ORPHA:2067
Trisomy 1Q
Toe syndactyly, Short thorax, Low-set ears, Abnormal rib morphology, Congenital diaphragmatic her... ORPHA:261344
Growth Delay-Hydrocephaly-Lung Hypoplasia Syndrome
Bowing of the long bones, Tibial bowing, Abnormality of fibula morphology, Abnormal rib morpholog... ORPHA:3035
Coenzyme Q10 Deficiency, Primary, 8
Respiratory distress, Left ventricular hypertrophy, Flexion contracture, Hearing impairment OMIM:616733
Acrorenal-Mandibular Syndrome
Missing ribs, Foot polydactyly, Narrow chest, Hemivertebrae, Hip dislocation, Hypoplastic scapula... OMIM:200980
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency
Clinodactyly, Abnormal rib morphology, Scoliosis, Narrow chest, Brachydactyly, Bowing of the long... ORPHA:95699
Huntington Disease-Like 1
Abnormal posturing, Abnormal shoulder morphology ORPHA:157941
Mucopolysaccharidosis, Type Iiic
Ovoid thoracolumbar vertebrae, Joint stiffness, Hearing impairment, Dense calvaria, Dysphagia, Ky... OMIM:252930
Cutis Laxa, Autosomal Dominant 1
Inguinal hernia, Emphysema, Redundant skin OMIM:123700
Mitochondrial Complex Iv Deficiency, Nuclear Type 2
Death in infancy, Respiratory distress OMIM:604377
Ehlers-Danlos Syndrome, Cardiac Valvular Type
Hyperextensible skin, Calcaneovalgus deformity, Joint laxity, Pectus excavatum, Inguinal hernia, ... OMIM:225320
Farber Disease
Flexion contracture, Skeletal muscle atrophy, Osteoporosis, Atelectasis, Abnormality of the wrist... ORPHA:333
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies
Aspiration, Clinodactyly of the 5th finger, Tapered finger, Facial erythema, Inguinal hernia, Dys... OMIM:619503
Camptodactyly Syndrome, Guadalajara Type 3
Short neck, Sternocleidomastoid amyotrophy, Osteopenia, Thickened cortex of long bones, Broad fem... ORPHA:488434
Cole-Carpenter Syndrome
Bowing of the long bones, Wormian bones, Kyphosis, Abnormal form of the vertebral bodies, Recurre... ORPHA:2050
Vitamin D Hydroxylation-Deficient Rickets, Type 1B
Enlargement of the ankles, Bowing of the legs, Bulging of the costochondral junction, Enlargement... OMIM:600081
Familial Osteodysplasia, Anderson Type
Large earlobe, Missing ribs, Kyphosis, Abnormal form of the vertebral bodies, Recurrent fractures... ORPHA:2769
Specific Granule Deficiency 2
Brachydactyly, Recurrent pneumonia, Simple ear, Hyperextensible skin, Osteopenia, Low-set ears, S... OMIM:617475
Anaplastic Thyroid Carcinoma
Abnormal skeletal muscle morphology, Cough, Dyspnea, Stridor, Upper airway obstruction, Dysphagia... ORPHA:142
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Hypermethylation
Diastasis recti, Coat hanger sign of ribs, Omphalocele, Large placenta, Thoracic hypoplasia, Umbi... ORPHA:254534
Pyknoachondrogenesis
Abnormal intramembranous ossification, Horizontal ribs, Hypoplastic ischia, Short long bone, Shor... ORPHA:3003
Loeys-Dietz Syndrome 4
Emphysema, Hyperextensible skin, Striae distensae, Joint laxity, Inguinal hernia, Spondylolisthes... OMIM:614816
Ehlers-Danlos Syndrome, Hypermobility Type
Hyperextensible skin, Striae distensae, Joint laxity, Joint dislocation, Osteoarthritis, Joint hy... OMIM:130020
Ear-Patella-Short Stature Syndrome
Craniosynostosis, Low-set ears, Abnormality of epiphysis morphology, Anotia, Aplastic clavicle, A... ORPHA:2554
Osteogenesis Imperfecta, Type Xvi
Osteopenia, Vertebral compression fracture, Conductive hearing impairment, Joint hypermobility, B... OMIM:616229
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 1
Scoliosis, Narrow chest, Bowing of the long bones, Absent earlobe, Flexion contracture, Joint dis... OMIM:130070
Dystonia 1, Torsion, Autosomal Dominant
Kyphosis, Hyperlordosis, Scoliosis, Torticollis, Abnormal posturing OMIM:128100
Cantú Syndrome
Ovoid vertebral bodies, Short neck, Coxa valga, Finger syndactyly, Short hallux, Osteoporosis, Pl... ORPHA:1517
Congenital Tracheomalacia
Emphysema, Decreased peak expiratory flow, Tracheomalacia, Pneumonia, Tracheobronchomalacia, Coug... ORPHA:95430
Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 1
Progressive congenital scoliosis, Recurrent pneumonia, Hyperextensible skin, Osteopenia, Joint la... OMIM:225400
Antley-Bixler Syndrome
Craniosynostosis, Joint stiffness, Recurrent fractures, Narrow chest, Abnormal rib morphology, Lo... ORPHA:83
Sclerosteosis 1
Abnormality of pelvic girdle bone morphology, Deviation of finger, Cortically dense long tubular ... OMIM:269500
Osteogenesis Imperfecta, Type Vii
Bowing of the legs, Wormian bones, Decreased calvarial ossification, Osteopenia, Vertebral compre... OMIM:610682
Craniofaciofrontodigital Syndrome
Short neck, Ecchymosis, Low-set ears, Hypoplastic vertebral bodies, Palmoplantar cutis laxa, Pect... OMIM:114620
Osteopathia Striata With Cranial Sclerosis
Tracheomalacia, Fibular hypoplasia, Craniofacial osteosclerosis, Clinodactyly of the 5th finger, ... OMIM:300373
Gm1-Gangliosidosis, Type I
Kyphosis, Short neck, Hypoplastic vertebral bodies, Joint stiffness, Beaking of vertebral bodies,... OMIM:230500
Rhizomelic Dysplasia, Scoliosis, And Retinitis Pigmentosa
Prominent deltoid tuberosities, Short neck, Short femoral neck, Short ribs, Scoliosis, Short hume... OMIM:610319
Spondylometaepiphyseal Dysplasia, Short Limb-Hand Type
Scoliosis, Broad long bones, Bowing of the legs, Recurrent pneumonia, Short ribs, Short phalanx o... OMIM:271665
Mucopolysaccharidosis Type 3
Abnormal rib morphology, Macroglossia, Inguinal hernia, Scoliosis, Dysphagia, Thickened helices, ... ORPHA:581
Spinocerebellar Ataxia-Dysmorphism Syndrome
Hyperextensible skin, Slender long bone, Low-set, posteriorly rotated ears, Genu recurvatum, Cubi... ORPHA:1185
Noonan Syndrome 8
Hyperextensible skin, Short neck, Low-set ears, Palmoplantar cutis laxa, Pleural effusion, Abnorm... OMIM:615355
Microlissencephaly-Micromelia Syndrome
11 pairs of ribs, Short neck, Respiratory distress, Adducted thumb ORPHA:50810
Alagille Syndrome
Hypoplasia of the ulna, Abnormal form of the vertebral bodies, Clinodactyly of the 5th finger, Ab... ORPHA:52
Occipital Horn Syndrome
Osteoporosis, Osteomalacia, Inguinal hernia, Scoliosis, Dysphagia, Narrow chest, Genu valgum, Hip... ORPHA:198
Cortical Defects, Wormian Bones, And Dentinogenesis Imperfecta
Wormian bones, Clinodactyly of the 3rd toe, Delayed closure of the anterior fontanelle, Asymmetry... OMIM:604922
Multiple Synostoses Syndrome 1
Carpal synostosis, Clinodactyly of the 5th finger, Absent distal phalanges, Spinal canal stenosis... OMIM:186500
Opsismodysplasia
Hypoplastic ischia, Anterior rib cupping, Short neck, Posterior rib cupping, Hypoplastic vertebra... OMIM:258480
Short-Rib Thoracic Dysplasia 12
Horizontal ribs, Inguinal hernia, Short toe, Narrow chest, Brachydactyly, Bowing of the legs, Sho... OMIM:269860
Mgat2-Cdg
Brachydactyly, Kyphosis, Prominent antihelix, Osteopenia, Pectus excavatum, Low-set, posteriorly ... ORPHA:79329
Dermatosparaxis Ehlers-Danlos Syndrome
Hiatus hernia, Hyperextensible skin, Coxa valga, Osteopenia, Joint stiffness, Joint dislocation, ... ORPHA:1901
Lissencephaly Syndrome, Norman-Roberts Type
Low-set ears, Rocker bottom foot, Adducted thumb, Dysphagia, Respiratory distress ORPHA:89844
Fibrous Dysplasia Of Bone
Abnormality of the ulna, Abnormal pelvis bone morphology, Fibrous dysplasia of the bones, Abnorma... ORPHA:249
Mullerian Duct Aplasia, Unilateral Renal Agenesis, And Cervicothoracic Somite Anomalies
Abnormality of the vertebral column, Conductive hearing impairment, Sprengel anomaly, Abnormal ri... OMIM:601076
Arboleda-Tham Syndrome
Genu varum, Small earlobe, Hammertoe, Sandal gap, Deviation of the hallux, Narrow chest, Genu val... OMIM:616268
Zaki Syndrome
Toe syndactyly, Cupped ear, Hyperextensible skin, Sacral dimple, Congenital diaphragmatic hernia,... OMIM:619648
Short Rib-Polydactyly Syndrome
Horizontal ribs, Abnormal ilium morphology, Abnormal pelvis bone morphology, Metaphyseal spurs, C... ORPHA:1505
Pparg-Related Familial Partial Lipodystrophy
Abnormality of skeletal muscle fiber size, Myopathy, Skeletal muscle hypertrophy, Calf muscle pse... ORPHA:79083
Van Den Ende-Gupta Syndrome
Distal ulnar hypoplasia, Camptodactyly of toe, Protruding ear, Hallux valgus, Long metacarpals, L... OMIM:600920
Autosomal Recessive Cutis Laxa Type 1
Emphysema, Recurrent pneumonia, Joint subluxation, Joint laxity, Cutis laxa, Inguinal hernia, Pne... ORPHA:90349
Cole-Carpenter Syndrome 2
Lambdoidal craniosynostosis, Wormian bones, Narrow iliac wing, Kyphosis, Osteopenia, Coronal cran... OMIM:616294
Lethal Congenital Contracture Syndrome 10
Thoracic scoliosis, Short neck, Overlapping fingers, Omphalocele, Adducted thumb, Torticollis, Na... OMIM:617022
Glycogen Storage Disease Due To Acid Maltase Deficiency
Flexion contracture, Facial hypotonia, Osteoporosis, Lower limb muscle weakness, Sleep apnea, Res... ORPHA:365
Beckwith-Wiedemann Syndrome
Prominent metopic ridge, Diastasis recti, Rhabdomyosarcoma, Sleep apnea, Leiomyosarcoma, Congenit... ORPHA:116
Simpson-Golabi-Behmel Syndrome
Clinodactyly of the 5th finger, Abnormal rib morphology, Macroglossia, Inguinal hernia, Scoliosis... ORPHA:373
Neuromuscular Oculoauditory Syndrome
Simple ear, Aspiration, Muscle fiber necrosis, Sensorineural hearing impairment, EMG: myopathic a... OMIM:618733
Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 2
Atlantoaxial instability, Hyperextensible skin, High-frequency sensorineural hearing impairment, ... OMIM:614557
Gm1 Gangliosidosis Type 1
Short long bone, Spatulate ribs, Hypoplastic vertebral bodies, Low-set ears, Flared iliac wing, P... ORPHA:79255
Microcephaly-Micromelia Syndrome
Craniosynostosis, Short neck, Low-set ears, Absent radius, Oligodactyly, Abnormal rib morphology,... OMIM:251230
Monosomy 9Q22.3
Abnormality of the vertebral column, Kyphosis, Short neck, Rhabdomyosarcoma, Low-set ears, Abnorm... ORPHA:77301
Short-Rib Thoracic Dysplasia 20 With Polydactyly
Horizontal ribs, Decreased calvarial ossification, Hypoplastic pubic bone, Short neck, Short long... OMIM:617925
Chitayat Syndrome
Brachydactyly, Tracheomalacia, Pectus excavatum, Respiratory distress, Hallux valgus OMIM:617180
Alpha-Mannosidosis, Infantile Form
Macroglossia, Genu valgum, Hypoplastic inferior ilia, Short neck, Bilateral coxa valga, Osteolysi... ORPHA:309282
X-Linked Hypophosphatemia
Genu varum, Upper limb metaphyseal widening, Rachitic rosary, Flattening of the talar dome, Genu ... ORPHA:89936
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders
Thoracic kyphosis, Short neck, Flexion contracture, Airway obstruction, Joint stiffness, Macroglo... ORPHA:505248
Congenital Muscular Dystrophy With Intellectual Disability And Severe Epilepsy
Respiratory distress, Scoliosis, Osteopenia, Contractures of the large joints ORPHA:329178
Noonan Syndrome With Multiple Lentigines
Severe sensorineural hearing impairment, Hyperextensible skin, Sensorineural hearing impairment, ...