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
Hip contracture, Scapular winging, Lumbar hyperlordosis, Paraspinal muscle hypertrophy, Congenita... OMIM:602484
Poland Syndrome
Unilateral absence of pectoralis major muscle, Syndactyly, Unilateral oligodactyly, Unilateral hy... OMIM:173800
Myopathy, X-Linked, With Postural Muscle Atrophy
Back pain, Skeletal muscle atrophy, Scapular winging, Short neck, Spinal rigidity, Achilles tendo... OMIM:300696
Autosomal Recessive Spondylocostal Dysostosis
Rib segmentation abnormalities, Low-set, posteriorly rotated ears, Finger syndactyly, Abnormal in... ORPHA:2311
Spondylocostal Dysostosis 3, Autosomal Recessive
Contracture of the proximal interphalangeal joint of the 2nd finger, Kyphosis, Hypoplasia of the ... OMIM:609813
Spondylocostal Dysostosis 2, Autosomal Recessive
Short neck, Vertebral clefting, Rib fusion, Hemivertebrae, Restrictive ventilatory defect, Verteb... OMIM:608681
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 27
Skeletal muscle atrophy, Proximal muscle weakness in upper limbs, Shoulder flexion contracture, S... OMIM:619566
Spondylocostal Dysostosis 1, Autosomal Recessive
Back pain, Death in infancy, Vertebral fusion, Block vertebrae, Abnormal odontoid process morphol... OMIM:277300
Becker Nevus Syndrome
Pectus excavatum, Kyphosis, Abnormal tibia morphology, Rib fusion, Pectus carinatum, Supernumerar... ORPHA:64755
Cutis Laxa, Autosomal Recessive, Type Iie
Joint laxity, Syndactyly, Brachydactyly, Lumbar hyperlordosis, Inguinal hernia, Ovoid vertebral b... OMIM:619451
Femoral-Facial Syndrome
Inguinal hernia, Short femur, Abnormal sacrum morphology, Rib fusion, Abnormal rib morphology, Co... ORPHA:1988
Radioulnar Synostosis-Microcephaly-Scoliosis Syndrome
Finger syndactyly, Abnormality of the elbow, Abnormal rib morphology, Pectus carinatum, Radioulna... ORPHA:3268
Autosomal Dominant Spondylocostal Dysostosis
Missing ribs, Short neck, Hyperlordosis, Abnormal sacrum morphology, Short thorax, Abnormal rib m... ORPHA:1797
Congenital Myopathy 10A, Severe Variant
Respiratory distress, Facial palsy, Camptodactyly of finger, Pectus excavatum, Increased variabil... OMIM:614399
Richieri Costa-Da Silva Syndrome
Joint dislocation, Decreased muscle mass, Diastasis recti, Kyphoscoliosis, Short neck, Metatarsus... ORPHA:3101
Spondylocostal Dysostosis 4, Autosomal Recessive
Vertebral fusion, Abnormal odontoid process morphology, Block vertebrae, Missing ribs, Pectus exc... OMIM:613686
Congenital Muscular Dystrophy With Intellectual Disability
Neuropathic spinal arthropathy, Hypoglycosylation of alpha-dystroglycan, Multiple joint contractu... ORPHA:370968
Cerebrofaciothoracic Dysplasia
Low-set, posteriorly rotated ears, Short neck, Rib fusion, Hemivertebrae, Vertebral segmentation ... ORPHA:1394
Stuve-Wiedemann Syndrome 2
Respiratory distress, Bowing of the long bones, Dysphagia, Death in adolescence, Short long bone,... OMIM:619751
Schwartz-Jampel Syndrome, Type 1
Skeletal muscle atrophy, Congenital hip dislocation, Cervical kyphosis, Short neck, Bowing of the... OMIM:255800
Metatropic Dysplasia
Abnormal metaphyseal vascular invasion, Enlarged joints, Flexion contracture, Long coccyx, Halber... OMIM:156530
Multiple Pterygium Syndrome, Escobar Variant
Multiple joint contractures, Congenital diaphragmatic hernia, Short neck, Flexion contracture, Kn... OMIM:265000
Myotonia With Skeletal Abnormalities And Mental Retardation
Kyphoscoliosis, Irregular femoral epiphysis, Vertebral wedging, Pectus carinatum, Bell-shaped tho... OMIM:255710
Anauxetic Dysplasia 3
Short metacarpal, Thoracolumbar kyphoscoliosis, Joint hypermobility, Pectus excavatum, Wide anter... OMIM:618853
Craniofacial Dysmorphism, Skeletal Anomalies, And Impaired Intellectual Development Syndrome 1
Hyperextensibility of the finger joints, Short neck, Hemivertebrae, Narrow chest, Self-mutilation... OMIM:213980
Cutis Laxa, Autosomal Recessive, Type Iiia
Wide cranial sutures, Congenital hip dislocation, Inguinal hernia, Pectus excavatum, Hip dislocat... OMIM:219150
Neurogenic Thoracic Outlet Syndrome
Abnormal rib morphology ORPHA:100073
Basal Cell Nevus Syndrome 1
Vertebral fusion, Short distal phalanx of the thumb, Down-sloping shoulders, Spina bifida, Kyphos... OMIM:109400
Spondylocostal Dysostosis 5
Vertebral fusion, Low back pain, Missing ribs, Short neck, Hemivertebrae, Pectus carinatum, Poste... OMIM:122600
Endosteal Hyperostosis, Worth Type
Craniofacial hyperostosis, Sclerotic vertebral body, Facial palsy, Generalized osteosclerosis, Se... ORPHA:2790
Autosomal Recessive Multiple Pterygium Syndrome
Skeletal muscle atrophy, Multiple pterygia, Symphalangism affecting the phalanges of the hand, Ab... ORPHA:2990
Infantile-Onset X-Linked Spinal Muscular Atrophy
Respiratory distress, Skeletal muscle atrophy, Hip contracture, Interphalangeal joint contracture... ORPHA:1145
Diastrophic Dysplasia
Joint dislocation, Abnormal clavicle morphology, Proximal placement of thumb, Abnormal form of th... ORPHA:628
Pontine Tegmental Cap Dysplasia
Facial palsy, Head titubation, Sensorineural hearing impairment, Rib fusion, Hemivertebrae, Ankle... OMIM:614688
Congenital Disorder Of Glycosylation, Type Iig
Osteopenia, Thoracic scoliosis, Short neck, Vertebral segmentation defect, Conductive hearing imp... OMIM:611209
Muscular Dystrophy, Congenital, 1B
Facial palsy, Spinal rigidity, Achilles tendon contracture, Generalized muscle hypertrophy, Pecto... OMIM:604801
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 2
Osteopenia, Hyperextensible skin, Joint contracture, Joint laxity, Respiratory insufficiency, Inc... OMIM:615349
Metatropic Dysplasia
Low-set, posteriorly rotated ears, Abnormal intervertebral disk morphology, Camptodactyly of fing... ORPHA:2635
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects
Osteopenia, Congenital diaphragmatic hernia, Short neck, Multiple joint dislocation, Pectus carin... OMIM:245600
Diaphanospondylodysostosis
Respiratory distress, Short neck, Missing ribs, Myelomeningocele, Short thorax, Enlarged thorax, ... ORPHA:66637
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 4
Hypoglycosylation of alpha-dystroglycan, Peroneal muscle weakness, Hyperlordosis, Pectus excavatu... OMIM:611588
Scarf Syndrome
Low-set, posteriorly rotated ears, Inguinal hernia, Diastasis recti, Craniosynostosis, Short neck... ORPHA:3134
Perching Syndrome
Respiratory distress, Scoliosis, Dysphagia, Joint contracture, Camptodactyly OMIM:617055
Robinow Syndrome, Autosomal Recessive 1
Short neck, Hemivertebrae, Short palm, Thoracic hemivertebrae, Duplication of the distal phalanx ... OMIM:268310
Thanatophoric Dysplasia
Brachydactyly, Redundant skin, Joint stiffness, Abnormal sacroiliac joint morphology, Kyphosis, S... ORPHA:2655
Pomt1-Related Limb-Girdle Muscular Dystrophy R11
Respiratory distress, Lumbar hyperlordosis, Centrally nucleated skeletal muscle fibers, Spinal ri... ORPHA:86812
Myopathy, Centronuclear, 1
Proximal muscle weakness in upper limbs, Facial palsy, Centrally nucleated skeletal muscle fibers... OMIM:160150
Weaver Syndrome
Low-set, posteriorly rotated ears, Finger syndactyly, Inguinal hernia, Sandal gap, Camptodactyly ... ORPHA:3447
Scarf Syndrome
Barrel-shaped chest, Inguinal hernia, Posteriorly rotated ears, Diastasis recti, Short neck, Abno... OMIM:312830
Fetal Akinesia Deformation Sequence 4
11 pairs of ribs, Skeletal muscle atrophy, Posteriorly rotated ears, Rocker bottom foot, Short ne... OMIM:618393
Proximal 16P11.2 Microdeletion Syndrome
Congenital diaphragmatic hernia, Craniosynostosis, Abnormal repetitive mannerisms, Sensorineural ... ORPHA:261197
Imperforate Oropharynx-Costovertebral Anomalies Syndrome
Respiratory distress, Posteriorly rotated ears, Arachnodactyly, Missing ribs, Dyspnea, Abnormal r... ORPHA:2759
Thanatophoric Dysplasia Type 1
Brachydactyly, Short femur, Bowing of the long bones, Redundant skin, Joint stiffness, Hypoplasti... ORPHA:1860
Thanatophoric Dysplasia Type 2
Encephalocele, Brachydactyly, Redundant skin, Kyphosis, Short thorax, Limitation of joint mobilit... ORPHA:93274
Isolated Klippel-Feil Syndrome
Congenital muscular torticollis, Spina bifida, Short neck, Abnormal sacrum morphology, Abnormal r... ORPHA:2345
Myopathic Ehlers-Danlos Syndrome
Congenital muscular torticollis, Decreased muscle mass, Multiple joint contractures, Flexion cont... ORPHA:536516
Spondylometaphyseal Dysplasia, Type A4
Brachydactyly, Ovoid vertebral bodies, Coxa valga, Metaphyseal sclerosis, Enlargement of the cost... OMIM:609052
Spondylodysplastic Ehlers-Danlos Syndrome
Osteopenia, Joint dislocation, Multiple joint contractures, Generalized joint laxity, Flexion con... ORPHA:536471
Weaver Syndrome
Short fourth metatarsal, Calcaneovalgus deformity, Hypoplastic iliac wing, Prominent fingertip pa... OMIM:277590
Aicardi Syndrome
Block vertebrae, Missing ribs, Hiatus hernia, Rib fusion, Small hand, Protruding ear, Hip dysplas... ORPHA:50
Aicardi Syndrome
Block vertebrae, Spina bifida, Missing ribs, Proximal placement of thumb, Hiatus hernia, Recurren... OMIM:304050
Ehlers-Danlos Syndrome, Classic-Like, 2
Osteopenia, Hallux valgus, Thoracic scoliosis, Inguinal hernia, Redundant skin, Short neck, Facet... OMIM:618000
Heart Defects-Limb Shortening Syndrome
Death in infancy, Kyphosis, Abnormal rib morphology, Abnormal form of the vertebral bodies, Narro... ORPHA:1354
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 2
Facial palsy, Hyperlordosis, Flexion contracture, Hip dislocation, Respiratory insufficiency, Ske... OMIM:613156
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14
Redundant neck skin, Short neck, Flexion contracture, Hemivertebrae, Tibial bowing, Narrow chest,... ORPHA:96334
Neurogenic Arthrogryposis Multiplex Congenita
Respiratory distress, Skeletal muscle atrophy, Hip contracture, Lower limb muscle weakness, Ankle... ORPHA:1143
Hypo- And Hypermelanotic Cutaneous Macules-Retarded Growth-Intellectual Disability Syndrome
Abnormal rib morphology ORPHA:2435
Cooper-Jabs Syndrome
Low-set, posteriorly rotated ears, Camptodactyly of finger, Congenital diaphragmatic hernia, Miss... ORPHA:1488
Rafiq Syndrome
Joint laxity, Short neck, Aggressive behavior, Flexion contracture, Cutis laxa, Low-set ears, Cli... OMIM:614202
Nemaline Myopathy 2
Skeletal muscle atrophy, Apnea, Fatty replacement of skeletal muscle, Flexion contracture, Congen... OMIM:256030
Platyspondylic Lethal Skeletal Dysplasia, Torrance Type
Respiratory distress, Short neck, Narrow chest, Radial bowing, Dumbbell-shaped long bone, Flat ac... OMIM:151210
Cutis Laxa, Autosomal Recessive, Type Iib
Osteopenia, Decreased muscle mass, Congenital hip dislocation, Bowing of the long bones, Redundan... OMIM:612940
Odontochondrodysplasia 1
Respiratory distress, Genu recurvatum, Metaphyseal widening, Pectus carinatum, Narrow chest, Shor... OMIM:184260
Mitochondrial Dna Depletion Syndrome, Myopathic Form
Respiratory distress, Skeletal muscle atrophy, Spinal muscular atrophy, Respiratory insufficiency... ORPHA:254875
Hereditary Myopathy With Early Respiratory Failure
Skeletal muscle atrophy, Reduced vital capacity, Internally nucleated skeletal muscle fibers, Ort... ORPHA:178464
Geroderma Osteodysplastica
Beaking of vertebral bodies, Redundant skin, Recurrent fractures, Osteoporosis, Hip dislocation, ... ORPHA:2078
Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans
Respiratory distress, Central apnea, Lumbar hyperlordosis, Redundant skin, Wide anterior fontanel... OMIM:616482
Kniest Dysplasia
Respiratory distress, Enlarged joints, Short neck, Delayed epiphyseal ossification, Coxa vara, Ti... OMIM:156550
Sprengel Deformity
Rib segmentation abnormalities, Cervical segmentation defect, Shoulder muscle hypoplasia, Hemiver... OMIM:184400
Man1B1-Cdg
Short neck, 2-3 toe syndactyly, Pectus carinatum, Cutis laxa, Low-set ears, Clinodactyly of the 5... ORPHA:397941
Cranioectodermal Dysplasia 4
Sagittal craniosynostosis, Pectus excavatum, Recurrent pneumonia, Decreased nasal nitric oxide, P... OMIM:614378
Schwartz-Jampel Syndrome
Skeletal muscle atrophy, Apnea, Short neck, Coxa vara, Pectus carinatum, Wrist flexion contractur... ORPHA:800
Charcot-Marie-Tooth Disease, Demyelinating, Type 1H
Distal lower limb amyotrophy, Distal upper limb amyotrophy, Hyperextensible skin, Distal lower li... OMIM:619764
1P36 Deletion Syndrome
Conductive hearing impairment, Clinodactyly of the 5th finger, Abnormal repetitive mannerisms, Lo... ORPHA:1606
Arterial Tortuosity Syndrome
Joint laxity, Soft, doughy skin, Inguinal hernia, Arachnodactyly, Congenital diaphragmatic hernia... OMIM:208050
B4Galt7-Related Spondylodysplastic Ehlers-Danlos Syndrome
Osteopenia, Skeletal muscle atrophy, Long toe, Arachnodactyly, Kyphoscoliosis, Flexion contractur... ORPHA:75496
Hemihyperplasia, Isolated
Skeletal muscle hypertrophy, Myelomeningocele, Scoliosis OMIM:235000
Musculocontractural Ehlers-Danlos Syndrome
Decreased muscle mass, Redundant skin, Cervical kyphosis, Generalized joint laxity, Protruding ea... ORPHA:2953
Chromosome 1P36 Deletion Syndrome, Distal
Thickened helices, Clinodactyly of the 5th finger, Conductive hearing impairment, Self-mutilation... OMIM:607872
Uruguay Faciocardiomusculoskeletal Syndrome
Hallux valgus, Congenital hip dislocation, Posteriorly rotated ears, Left ventricular hypertrophy... OMIM:300280
Calpain-3-Related Limb-Girdle Muscular Dystrophy R1
Scapular winging, Pelvic girdle amyotrophy, Lower limb muscle weakness, Ankle flexion contracture... ORPHA:267
Myotonia Permanens
Hyperlordosis, Dyspnea, Asthma, Generalized muscle hypertrophy, Limitation of joint mobility, Ske... ORPHA:99735
Fibrochondrogenesis 1
Short neck, Narrow greater sciatic notch, Short palm, Clinodactyly of the 5th finger, Widely pate... OMIM:228520
Lethal Congenital Contracture Syndrome Type 1
Low-set, posteriorly rotated ears, Skeletal muscle atrophy, Recurrent fractures, Short neck, Limi... ORPHA:1486
Cutis Laxa, Neonatal, With Marfanoid Phenotype
Arachnodactyly, Congenital diaphragmatic hernia, Hip dislocation, Cutis laxa, Emphysema OMIM:614100
Intellectual Developmental Disorder With Speech Delay And Axonal Peripheral Neuropathy
Respiratory distress, Distal amyotrophy, Kyphoscoliosis OMIM:619099
Axial Spondylometaphyseal Dysplasia
Osteopenia, Aplasia/Hypoplasia of the vertebrae, Thoracic scoliosis, Proximal femoral metaphyseal... ORPHA:168549
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 3
Scapular winging, Ankle flexion contracture, Limb-girdle muscle weakness, Flexion contracture, Ca... OMIM:608099
De Barsy Syndrome
Osteopenia, Decreased muscle mass, Congenital hip dislocation, Inguinal hernia, Kyphoscoliosis, D... ORPHA:2962
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome
Omphalocele, Abnormal clavicle morphology, Bowing of the long bones, Proximal placement of thumb,... ORPHA:93267
Coffin-Lowry Syndrome
Skeletal muscle atrophy, Redundant skin, Abnormal form of the vertebral bodies, Protruding ear, P... ORPHA:192
Myopathy And Diabetes Mellitus
Distal lower limb amyotrophy, Respiratory distress, Sensorineural hearing impairment, Achilles te... ORPHA:2596
Dyggve-Melchior-Clausen Disease
Glenoid fossa hypoplasia, Short neck, Coxa vara, Pectus carinatum, Broad ribs, Hyperactivity, Ili... ORPHA:239
Kyphomelic Dysplasia
Bowing of the long bones, Anterior rib cupping, Missing ribs, Lateral clavicle hook, Joint stiffn... ORPHA:1801
Spondyloepiphyseal Dysplasia Congenita
Respiratory distress, Limited elbow movement, Short neck, Coxa vara, Pectus carinatum, Delayed ca... OMIM:183900
Fibrochondrogenesis
Omphalocele, Hypoplastic scapulae, Camptodactyly of finger, Short neck, Wide anterior fontanel, A... ORPHA:2021
Geroderma Osteodysplasticum
Beaking of vertebral bodies, Osteopenia, Hyperextensibility of the finger joints, Recurrent fract... OMIM:231070
Cutis Laxa, Autosomal Recessive, Type Iia
Inguinal hernia, Congenital hip dislocation, Redundant skin, Wide anterior fontanel, Cutis laxa, ... OMIM:219200
Kbg Syndrome
Vertebral fusion, Syndactyly, Posteriorly rotated ears, Short neck, Rib fusion, Vertebral arch an... OMIM:148050
Charcot-Marie-Tooth Disease Type 1B
Skeletal muscle hypertrophy, Skeletal muscle atrophy, Scoliosis, Hearing impairment ORPHA:101082
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 6
Facial palsy, Achilles tendon contracture, Elbow flexion contracture, Skeletal muscle hypertrophy... OMIM:608840
Shox-Related Short Stature
Short neck, Madelung deformity, Genu valgum, Skeletal muscle hypertrophy, Short foot, Tibial bowi... ORPHA:314795
Global Developmental Delay-Alopecia-Macrocephaly-Facial Dysmorphism-Structural Brain Anomalies Syndrome
Sacral dimple, Inguinal hernia, Tapered toe, Tapered finger, Aggressive behavior, Sensorineural h... ORPHA:544488
Craniofaciofrontodigital Syndrome
Osteopenia, Joint laxity, Respiratory distress, Dyspnea, Osteoporosis, Pectus carinatum, Cutis la... ORPHA:363705
Autosomal Recessive Robinow Syndrome
Short neck, Pectus carinatum, Vertebral segmentation defect, Clinodactyly of the 5th finger, Syno... ORPHA:1507
Myasthenic Syndrome, Congenital, 4A, Slow-Channel
Respiratory distress, Sudden episodic apnea, Respiratory insufficiency due to muscle weakness, Ty... OMIM:605809
Progeroid Syndrome, Petty Type
Low-set, posteriorly rotated ears, Redundant skin, Wide anterior fontanel, Cutis laxa, Umbilical ... ORPHA:2963
Lethal Recessive Chondrodysplasia
Respiratory distress, Generalized osteosclerosis, Macroglossia, Short long bone, Narrow chest, Fl... ORPHA:1423
Myasthenic Syndrome, Congenital, 6, Presynaptic
Respiratory distress, Sudden episodic apnea, Respiratory insufficiency due to muscle weakness, Ap... OMIM:254210
Cutis Laxa-Marfanoid Syndrome
Arachnodactyly, Redundant skin, Congenital diaphragmatic hernia, Limitation of joint mobility, Fl... ORPHA:171719
Odontochondrodysplasia
Respiratory distress, Death in infancy, Bowing of the long bones, Coxa valga, Cone-shaped epiphys... ORPHA:166272
Lung Agenesis-Heart Defect-Thumb Anomalies Syndrome
Death in infancy, Congenital diaphragmatic hernia, Spina bifida, Proximal placement of thumb, Sho... ORPHA:1120
Mucopolysaccharidosis, Type Iva
Short neck, Epiphyseal deformities of tubular bones, Metaphyseal widening, Pectus carinatum, Flar... OMIM:253000
Osteogenesis Imperfecta
Osteopenia, Cervical kyphosis, Abnormal tibia morphology, Flexion contracture, Osteoarthritis, Ab... ORPHA:666
Macs Syndrome
Joint laxity, Redundant skin, Pectus excavatum, Osteoporosis, Bronchiectasis, Cutis laxa, Hyperex... OMIM:613075
Severe X-Linked Mitochondrial Encephalomyopathy
Respiratory distress, Skeletal muscle atrophy, Increased variability in muscle fiber diameter, Re... ORPHA:238329
Spondylometaphyseal Dysplasia, Axial
Anterior rib cupping, Proximal femoral metaphyseal irregularity, Recurrent pneumonia, Coxa vara, ... OMIM:602271
Muscular Dystrophy-Dystroglycanopathy (Congenital With Or Without Impaired Intellectual Development), Type B, 5
Skeletal muscle atrophy, Vertebral fusion, Facial palsy, Elbow contracture, Hyperlordosis, Kyphos... OMIM:606612
Lethal Osteosclerotic Bone Dysplasia
Respiratory distress, Posteriorly rotated ears, Short neck, Dyspnea, Respiratory failure, Low-set... ORPHA:1832
X-Linked Charcot-Marie-Tooth Disease Type 5
Skeletal muscle hypertrophy, Kyphosis, Scoliosis, Hearing impairment ORPHA:99014
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 3
Hyperlordosis, Skeletal muscle hypertrophy, Calf muscle hypertrophy, Muscular dystrophy, Increase... OMIM:613157
Phaver Syndrome
Broad hallux phalanx, Posteriorly rotated ears, Camptodactyly of finger, Pterygium, Joint stiffne... ORPHA:2876
Spondyloepimetaphyseal Dysplasia, Irapa Type
Short metacarpal, Osteoarthritis, Limitation of joint mobility, Abnormal rib morphology, Abnormal... ORPHA:93351
Rin2 Syndrome
Redundant skin, Increased susceptibility to fractures, Abnormal sternum morphology, Hyperextensib... ORPHA:217335
C Syndrome
Omphalocele, Fused sternal ossification centers, Short metacarpal, Toe syndactyly, Posteriorly ro... OMIM:211750
Lenz-Majewski Hyperostotic Dwarfism
Hyperextensibility of the finger joints, Hemivertebrae, Knee flexion contracture, Cutaneous finge... OMIM:151050
Osteogenesis Imperfecta, Type X
Osteopenia, Respiratory distress, Thoracic scoliosis, Generalized joint laxity, Tibial bowing, Na... OMIM:613848
Mosaic Trisomy 14
Low-set, posteriorly rotated ears, Camptodactyly of finger, Short neck, Abnormal rib morphology, ... ORPHA:1703
Ehlers-Danlos Syndrome, Classic Type, 2
Recurrent joint dislocation, Congenital hip dislocation, Joint hypermobility, Generalized joint l... OMIM:130010
Congenital Myopathy 2C, Severe Infantile, Autosomal Dominant
Respiratory distress, Skeletal muscle atrophy, Thoracic scoliosis, Death in infancy, Abnormality ... OMIM:620278
Spondylomegaepiphyseal Dysplasia With Upper Limb Mesomelia, Punctate Calcifications, And Deafness
Broad toe, Lumbar hyperlordosis, Enlarged metacarpal epiphyses, Cupped ribs, Sensorineural hearin... OMIM:609616
Leri-Weill Dyschondrosteosis
Abnormal femoral neck morphology, Abnormal metatarsal morphology, Limited elbow movement, Abnorma... OMIM:127300
Congenital Muscular Dystrophy-Respiratory Failure-Skin Abnormalities-Joint Hyperlaxity Syndrome
Joint laxity, Multiple joint contractures, Centrally nucleated skeletal muscle fibers, Pectus exc... ORPHA:486815
Ehlers-Danlos Syndrome, Arthrochalasia Type, 1
Osteopenia, Joint laxity, Hallux valgus, Contracture of the proximal interphalangeal joint of the... OMIM:130060
Diaphanospondylodysostosis
Delayed vertebral ossification, Respiratory distress, Absent in utero ossification of vertebral b... OMIM:608022
Congenital Disorder Of Glycosylation, Type Iy
Joint dislocation, Respiratory distress, Scoliosis, Clinodactyly, Macrotia OMIM:300934
Craniodiaphyseal Dysplasia, Autosomal Dominant
Craniofacial hyperostosis, Thickened ribs, Cortical sclerosis, Craniofacial osteosclerosis, Diaph... OMIM:122860
Mesomelic Dysplasia, Kantaputra Type
Camptodactyly of finger, Tarsal synostosis, Abnormality of the humerus, Abnormal rib morphology, ... ORPHA:1836
Spondylocostal Dysostosis With Anal Atresia And Urogenital Anomalies
Vertebral fusion, Inguinal hernia, Block vertebrae, Short neck, Missing ribs, Rib fusion, Hemiver... OMIM:271520
Isolated Congenital Hypoglossia/Aglossia
Respiratory distress, Dyspnea, Upper airway obstruction, Aplasia/Hypoplasia of fingers, Aspiratio... ORPHA:141152
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome
Osteopenia, Respiratory distress, Multiple joint contractures, Metaphyseal widening, Multiple joi... ORPHA:536467
Intellectual Disability-Myopathy-Short Stature-Endocrine Defect Syndrome
Skeletal muscle atrophy, Craniofacial hyperostosis, Abnormal pinna morphology, Facial palsy, Abno... ORPHA:3068
Aarskog-Scott Syndrome
Low-set, posteriorly rotated ears, Finger syndactyly, Inguinal hernia, Genu recurvatum, Camptodac... ORPHA:915
Wolf-Hirschhorn Syndrome
Rib segmentation abnormalities, Low-set, posteriorly rotated ears, Sacral dimple, Hypoplastic pub... ORPHA:280
Craniodiaphyseal Dysplasia
Conductive hearing impairment, Craniofacial hyperostosis, Abnormal rib morphology, Diaphyseal thi... ORPHA:1513
Cutis Laxa, Autosomal Recessive, Type Ia
Joint laxity, Inguinal hernia, Arachnodactyly, Redundant skin, Congenital diaphragmatic hernia, P... OMIM:219100
6P22 Microdeletion Syndrome
Finger syndactyly, Redundant skin, Short neck, Clinodactyly, Low-set ears, Overfolded helix, Hear... ORPHA:251046
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly
Omphalocele, Syndactyly, Respiratory distress, Thoracic hypoplasia, Postaxial polydactyly, Latera... OMIM:617895
Neurodevelopmental Disorder With Spastic Quadriplegia And Brain Abnormalities With Or Without Seizures
Respiratory distress, Joint contracture, Kyphoscoliosis OMIM:617977
Short-Rib Thoracic Dysplasia 9 With Or Without Polydactyly
Osteopenia, Short neck, Short metatarsal, Narrow chest, Clinodactyly of the 5th finger, Short pha... OMIM:266920
Classical-Like Ehlers-Danlos Syndrome Type 2
Osteopenia, Joint dislocation, Thoracic scoliosis, Redundant skin, Equinus calcaneus, Knee disloc... ORPHA:536532
Jeune Syndrome
Abnormal clavicle morphology, Toe syndactyly, Postaxial hand polydactyly, Short thorax, Abnormal ... ORPHA:474
Kyphoscoliotic Ehlers-Danlos Syndrome Due To Fkbp22 Deficiency
Osteopenia, Skeletal muscle atrophy, Kyphoscoliosis, Sensorineural hearing impairment, Myopathy, ... ORPHA:300179
Ehlers-Danlos Syndrome, Dermatosparaxis Type
Osteopenia, Joint laxity, Inguinal hernia, Redundant skin, Delayed closure of the anterior fontan... OMIM:225410
Pseudoxanthoma Elasticum-Like Skin Manifestations With Retinitis Pigmentosa
Increased number of skin folds, Redundant skin, Cutis laxa ORPHA:436274
Achondroplasia
Respiratory distress, Limited hip extension, Bowing of the legs, Generalized joint laxity, Femora... OMIM:100800
Metaphyseal Chondrodysplasia, Schmid Type
Broad proximal phalanges of the hand, Short tubular bones of the hand, Bowing of the legs, Proxim... ORPHA:174
Septopreoptic Holoprosencephaly
Impulsivity, Abnormal rib morphology, Dysphagia, Abnormal vertebral morphology, Ethmoidal encepha... ORPHA:280195
Ehlers-Danlos Syndrome, Periodontal Type, 2
Joint dislocation, Inguinal hernia, Hyperextensible skin, Scoliosis, Umbilical hernia, Joint hype... OMIM:617174
Myopathy, Centronuclear, 6, With Fiber-Type Disproportion
Joint laxity, Skeletal muscle atrophy, Reduced vital capacity, Ankle flexion contracture, Central... OMIM:617760
Melnick-Needles Syndrome
Narrow chest, Anisospondyly, Short thorax, Abnormal rib morphology, Cone-shaped epiphyses of the ... ORPHA:2484
Congenital Myasthenic Syndrome
Congenital hip dislocation, Limb-girdle muscle weakness, Pectus carinatum, Muscle fiber atrophy, ... ORPHA:590
Presynaptic Congenital Myasthenic Syndromes
Congenital hip dislocation, Limb-girdle muscle weakness, Pectus carinatum, Muscle fiber atrophy, ... ORPHA:98914
Ogden Syndrome
Torticollis, Inguinal hernia, Broad hallux, Cutis laxa, Scoliosis, Low-set ears, Macrotia, Delaye... ORPHA:276432
Spondylometaphyseal Dysplasia, Sedaghatian Type
Redundant skin, Short neck, Delayed epiphyseal ossification, Long fibula, Narrow chest, Narrow gr... OMIM:250220
Pallister-Hall Syndrome
Syndactyly, Mesoaxial foot polydactyly, Posteriorly rotated ears, Toe syndactyly, Mesoaxial hand ... OMIM:146510
Cardiospondylocarpofacial Syndrome
Carpal synostosis, Joint laxity, Posteriorly rotated ears, Tarsal synostosis, Congenital diaphrag... OMIM:157800
Mitochondrial Complex I Deficiency, Nuclear Type 30
Neonatal death, Redundant skin OMIM:301021
Spondyloepimetaphyseal Dysplasia, X-Linked, With Hypomyelinating Leukodystrophy
Skeletal muscle atrophy, Short neck, Metaphyseal widening, Flexion contracture, Coxa vara, Metaph... OMIM:300232
Congenital Myopathy 22B, Severe Fetal
Respiratory distress, Thoracic scoliosis, Short neck, Flexion contracture, Generalized amyotrophy... OMIM:620369
Short-Rib Thoracic Dysplasia 17 With Or Without Polydactyly
Death in infancy, Lateral clavicle hook, Postaxial hand polydactyly, Postaxial foot polydactyly, ... OMIM:617405
Osteogenesis Imperfecta, Type Iii
Recurrent fractures, Protrusio acetabuli, Severe generalized osteoporosis, Multiple prenatal frac... OMIM:259420
Intellectual Disability-Polydactyly-Uncombable Hair Syndrome
Broad hallux phalanx, Toe syndactyly, Short neck, Metatarsus valgus, Kyphosis, Postaxial hand pol... ORPHA:3082
Osteogenesis Imperfecta, Type Ix
Recurrent fractures, Beaded ribs, Pectus excavatum, Kyphosis, Multiple prenatal fractures, Pectus... OMIM:259440
Cutis Laxa, Autosomal Dominant 2
Premature skin wrinkling, Scoliosis, Cutis laxa OMIM:614434
Muscular Pseudohypertrophy-Hypothyroidism Syndrome
Skeletal muscle hypertrophy, Umbilical hernia, Macroglossia, Myopathy ORPHA:2349
Shprintzen-Goldberg Craniosynostosis Syndrome
Osteopenia, Genu recurvatum, Lateral clavicle hook, Metaphyseal widening, Pectus carinatum, Hyper... OMIM:182212
Muscle Hypertrophy
Skeletal muscle hypertrophy OMIM:614160
Synaptic Congenital Myasthenic Syndromes
Respiratory distress, Skeletal muscle atrophy, Scapular winging, Abnormality of the knee, Hypoven... ORPHA:98915
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 6
Respiratory distress, Skeletal muscle atrophy, Paradoxical respiration, Plantar flexion contractu... OMIM:620011
Campomelic Dysplasia
Respiratory distress, Thoracic scoliosis, Apnea, Cervical kyphosis, Anterior tibial bowing, Delay... OMIM:114290
Tetrasomy 5P
Respiratory distress, Redundant neck skin, Posteriorly rotated ears, Overlapping toe, Short hallu... ORPHA:3309
Meier-Gorlin Syndrome 1
Respiratory distress, Genu recurvatum, Lateral clavicle hook, Flat glenoid fossa, Flexion contrac... OMIM:224690
Brown-Vialetto-Van Laere Syndrome 1
Hand muscle atrophy, Skeletal muscle atrophy, Respiratory distress, Respiratory failure requiring... OMIM:211530
Femoral-Facial Syndrome
Short fourth metatarsal, Limited elbow movement, Hemivertebrae, Dysplastic sacrum, Absent vertebr... OMIM:134780
Cutis Laxa, Autosomal Dominant 3
Os odontoideum, Osteopenia, Joint laxity, Adducted thumb, Hip dislocation, Protruding ear, Cutis ... OMIM:616603
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 2
Respiratory distress, Respiratory insufficiency due to muscle weakness, Ragged-red muscle fibers,... OMIM:613561
Baller-Gerold Syndrome
Limited elbow movement, Patellar hypoplasia, Conductive hearing impairment, Spina bifida occulta,... OMIM:218600
Myotubular Myopathy With Abnormal Genital Development
Respiratory distress, Death in infancy, Centrally nucleated skeletal muscle fibers, Thin ribs, My... OMIM:300219
Occipital Horn Syndrome
Persistent open anterior fontanelle, Redundant skin, Pectus carinatum, Hyperextensible skin, Narr... OMIM:304150
Myopathy, Congenital, With Fiber-Type Disproportion, X-Linked
Respiratory distress, Facial palsy, Respiratory insufficiency due to muscle weakness, Myopathy, T... OMIM:300580
Rippling Muscle Disease 2
Skeletal muscle hypertrophy, Calf muscle hypertrophy OMIM:606072
Anoctamin-5-Related Limb-Girdle Muscular Dystrophy R12
Internally nucleated skeletal muscle fibers, Genu recurvatum, Fatty replacement of skeletal muscl... ORPHA:206549
White Forelock With Malformations
Low-set, posteriorly rotated ears, Finger syndactyly, Abnormal rib morphology, Joint hyperflexibi... ORPHA:2475
Spondyloepimetaphyseal Dysplasia, Irapa Type
Metaphyseal dysplasia, Short metacarpal, Lumbar hyperlordosis, Hypoplastic sacrum, Enlargement of... OMIM:271650
Cog1-Cdg
Low-set, posteriorly rotated ears, Irregularity of vertebral bodies, Osteopenia, Kyphoscoliosis, ... ORPHA:263508
Klippel-Feil Syndrome 1, Autosomal Dominant
Congenital muscular torticollis, Mixed hearing impairment, Short neck, Sensorineural hearing impa... OMIM:118100
Congenital Myopathy 7B, Myosin Storage, Autosomal Recessive
Death in early adulthood, Thoracic scoliosis, Muscle fiber hyaline bodies, Centrally nucleated sk... OMIM:255160
Severe Congenital Nemaline Myopathy
Skeletal muscle atrophy, Facial palsy, Multiple prenatal fractures, Abnormal thorax morphology, F... ORPHA:171430
Mitochondrial Myopathy With Reversible Cytochrome C Oxidase Deficiency
Respiratory distress, Respiratory failure requiring assisted ventilation, Ragged-red muscle fiber... ORPHA:254864
Pleural Mesothelioma
Respiratory distress, Dyspnea, Abnormal thorax morphology, Abnormal respiratory system physiology... ORPHA:50251
Trichothiodystrophy 8, Nonphotosensitive
Head titubation, Ankle clonus, Protruding ear, Cutis laxa OMIM:619691
Gapo Syndrome
Facial palsy, Redundant skin, Delayed closure of the anterior fontanelle, Delayed cranial suture ... OMIM:230740
Pseudoachondroplasia
Limited hip extension, Genu recurvatum, Spatulate ribs, Delayed epiphyseal ossification, Osteoart... OMIM:177170
Hypomyelination Neuropathy-Arthrogryposis Syndrome
Respiratory distress, Limitation of joint mobility ORPHA:2680
Spondyloepimetaphyseal Dysplasia, Strudwick Type
Brachydactyly, Club-shaped proximal femur, Inguinal hernia, Anterior rib cupping, Hyperlordosis, ... OMIM:184250
Shprintzen-Goldberg Syndrome
Osteopenia, Apnea, Abnormal form of the vertebral bodies, Pectus carinatum, Protruding ear, Hyper... ORPHA:2462
3M Syndrome
Congenital hip dislocation, Short neck, Increased vertebral height, Protruding ear, Enlarged thor... ORPHA:2616
Microcephaly-Cervical Spine Fusion Anomalies Syndrome
Abnormal clavicle morphology, Short neck, Pectus excavatum, Hyperlordosis, Kyphosis, Abnormal rib... ORPHA:2522
Muscular Hypertonia, Lethal
Respiratory distress, Umbilical hernia, Pneumonia, Death in infancy OMIM:254120
Slc39A13-Related Spondylodysplastic Ehlers-Danlos Syndrome
Osteopenia, Thenar muscle atrophy, Tapered finger, Flat capital femoral epiphysis, Flexion contra... ORPHA:157965
Congenital Myopathy 3 With Rigid Spine
Reduced vital capacity, Facial palsy, Centrally nucleated skeletal muscle fibers, Spinal rigidity... OMIM:602771
Spinal muscular atrophy, type I, with congenital bone fractures
Osteopenia, Respiratory distress, Decreased muscle mass, Congenital hip dislocation, Arachnodacty... OMIM:271225
Acromesomelic Dysplasia 1
Short metatarsal, Short phalanx of finger, Long hallux, Broad metacarpals, Joint laxity, Short me... OMIM:602875
Spondylometaphyseal Dysplasia, Kozlowski Type
Enlarged joints, Irregular, rachitic-like metaphyses, Short neck, Coxa vara, Pectus carinatum, Ha... OMIM:184252
Rahman Syndrome
Redundant skin, Kyphoscoliosis, Camptodactyly OMIM:617537
Aldh18A1-Related De Barsy Syndrome
Joint hyperflexibility, Hyperextensible skin ORPHA:35664
Cutis Laxa, Autosomal Recessive, Type Iiib
Osteopenia, Inguinal hernia, Posteriorly rotated ears, Prominent ear helix, Flexion contracture, ... OMIM:614438
Congenital Disorder Of Glycosylation, Type Iu
Respiratory distress, Death in infancy, Neonatal respiratory distress, Congenital contracture, Sc... OMIM:615042
Thanatophoric Dysplasia, Type Ii
Small abnormally formed scapulae, Hypoplastic ilia, Wide-cupped costochondral junctions, Flared m... OMIM:187601
Bohring-Opitz Syndrome
Joint dislocation, Syndactyly, Sacral dimple, Prominent metopic ridge, Posteriorly rotated ears, ... OMIM:605039
Methylmalonic Aciduria And Homocystinuria, Cblj Type
Inguinal hernia, Tachypnea, Bell-shaped thorax, Pulmonary arterial hypertension, Abnormal posturi... OMIM:614857
Bone Dysplasia, Lethal Holmgren Type
Joint dislocation, Metaphyseal dysplasia, Redundant neck skin, Short neck, Abnormal thumb morphol... ORPHA:1842
Grant Syndrome
Joint dislocation, Bowing of the long bones, Abnormal cortical bone morphology, Abnormal rib morp... ORPHA:2097
Mucopolysaccharidosis, Type Ivb
Epiphyseal deformities of tubular bones, Metaphyseal widening, Flaring of rib cage, Joint laxity,... OMIM:253010
Rnf13-Related Severe Early-Onset Epileptic Encephalopathy
Respiratory distress, Restlessness, Inguinal hernia, Tapered finger, Sensorineural hearing impair... ORPHA:544503
Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 2
High-frequency sensorineural hearing impairment, Skeletal muscle atrophy, Mixed hearing impairmen... OMIM:614557
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 3
Joint laxity, Hypoplasia of the ulna, Short neck, Tapered finger, Multiple joint dislocation, Hip... OMIM:618395
Schneckenbecken Dysplasia
Hypoplastic scapulae, Anterior rib cupping, Ovoid vertebral bodies, Short neck, Lateral clavicle ... OMIM:269250
Autosomal Recessive Cutis Laxa Type 2, Classic Type
Decreased muscle mass, Redundant neck skin, Congenital hip dislocation, Redundant skin, Delayed c... ORPHA:357074
Renpenning Syndrome
Skeletal muscle atrophy, Joint stiffness, Pectus excavatum, Abnormal thumb morphology, Sensorineu... ORPHA:3242
Spondylo-Ocular Syndrome
Abnormal intervertebral disk morphology, Facial hypotonia, Short neck, Osteoporosis, Abnormal ant... ORPHA:85194
Spondylometaphyseal Dysplasia With Cone-Rod Dystrophy
Short metacarpal, Ovoid vertebral bodies, Joint stiffness, Cupped ribs, Metaphyseal widening, Cox... OMIM:608940
Developmental And Epileptic Encephalopathy 30
Respiratory distress, Death in infancy, Abnormal repetitive mannerisms OMIM:616341
Spondyloepimetaphyseal Dysplasia, Borochowitz-Cormier-Daire Type
Dysplastic iliac wing, Lumbar hyperlordosis, Ovoid vertebral bodies, Metaphyseal spurs, Bowing of... OMIM:608728
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type
Osteopenia, Multiple rib fractures, Short femur, Posteriorly rotated ears, Fractured radius, Bead... OMIM:616897
Congenital Muscular Dystrophy With Cerebellar Involvement
Occipital encephalocele, Calf muscle pseudohypertrophy, Hypoglycosylation of alpha-dystroglycan, ... ORPHA:370959
Rippling Muscle Disease 1
Skeletal muscle hypertrophy OMIM:600332
Gaucher Disease Type 2
Respiratory distress, Cough, Flexion contracture, Dysphagia, Abnormal pattern of respiration ORPHA:77260
Axial Mesodermal Dysplasia Spectrum
Omphalocele, Abnormality of the knee, Congenital diaphragmatic hernia, Short neck, Missing ribs, ... ORPHA:1834
Periodontal Ehlers-Danlos Syndrome
Joint hyperflexibility, Hyperextensible skin ORPHA:75392
Zttk Syndrome
Craniosynostosis, Kyphosis, Flexion contracture, Rib fusion, Hemivertebrae, Small hand, Protrudin... OMIM:617140
Dyggve-Melchior-Clausen Disease
Short neck, Metaphyseal widening, Flat glenoid fossa, Short metatarsal, Pectus carinatum, Femoral... OMIM:223800
Ogden Syndrome
Redundant neck skin, Congenital hip dislocation, Redundant skin, Apnea, Short neck, Protruding ea... OMIM:300855
Wrinkly Skin Syndrome
Osteopenia, Scapular winging, Congenital hip dislocation, Wormian bones, Redundant skin, Hypoplas... OMIM:278250
Congenital Disorder Of Glycosylation, Type Iir
Low-set ears, Cutis laxa OMIM:301045
Mohr-Tranebjaerg Syndrome
Intrinsic hand muscle atrophy, Postlingual sensorineural hearing impairment, Increased susceptibi... OMIM:304700
Kyphoscoliotic Ehlers-Danlos Syndrome Due To Lysyl Hydroxylase 1 Deficiency
Osteopenia, Joint dislocation, Thoracic scoliosis, Decreased muscle mass, Distal joint laxity, Ge... ORPHA:1900
Short-Rib Thoracic Dysplasia 16 With Or Without Polydactyly
Respiratory distress, Short metacarpal, Brachydactyly, Sandal gap, Postaxial polydactyly, Short t... OMIM:617102
Shwachman-Diamond Syndrome 1
Myocardial necrosis, Respiratory distress, Neonatal respiratory distress, Anterior rib cupping, O... OMIM:260400
Hydrocephalus-Costovertebral Dysplasia-Sprengel Anomaly Syndrome
Sandal gap, Abnormal rib morphology, Hemivertebrae, Abnormal form of the vertebral bodies, Low-se... ORPHA:2180
Achondrogenesis Type 1B
Short neck, Abnormal enchondral ossification, Short thorax, Abnormal rib morphology, Short foot, ... ORPHA:93298
Alg8-Cdg
Cutis laxa, Macroglossia, Low-set ears, Camptodactyly, Premature skin wrinkling, Brachydactyly ORPHA:79325
Acropectorovertebral Dysplasia
Finger syndactyly, Toe syndactyly, Bifid distal phalanx of the thumb, Capitate-hamate fusion, Abn... OMIM:102510
Juberg-Hayward Syndrome
Toe syndactyly, Short thumb, Hypoplasia of the radius, Abnormal finger morphology, Abnormal rib m... ORPHA:2319
Autosomal Dominant Centronuclear Myopathy
Proximal muscle weakness in upper limbs, Miscarriage, Centrally nucleated skeletal muscle fibers,... ORPHA:169189
Holt-Oram Syndrome
Abnormal clavicle morphology, Finger syndactyly, Down-sloping shoulders, Absent thumb, Pectus exc... ORPHA:392
Cartilage-Hair Hypoplasia
Short neck, Metaphyseal chondrodysplasia, Abnormal form of the vertebral bodies, Pectus carinatum... ORPHA:175
Mayer-Rokitansky-Küster-Hauser Syndrome Type 2
Vertebral segmentation defect, Abnormal rib morphology, Short neck, Hearing impairment ORPHA:2578
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Microdeletion
Joint laxity, Long toe, Inguinal hernia, Redundant neck skin, Overlapping toe, Diastasis recti, O... ORPHA:254528
Neurodevelopmental Disorder With Hypotonia, Facial Dysmorphism, And Brain Abnormalities
Respiratory distress, Overlapping toe, Flexion contracture, Pectus carinatum, Scoliosis, Low-set ... OMIM:619383
Moebius Syndrome
Respiratory distress, Syndactyly, Brachydactyly, Abnormal pinna morphology, Short neck, Split han... OMIM:157900
Microphthalmia, Syndromic 3
Vertebral fusion, Missing ribs, Sensorineural hearing impairment, Rib fusion, Hemivertebrae, Bila... OMIM:206900
Ossification Anomalies-Psychomotor Developmental Delay Syndrome
Decreased muscle mass, Abnormal thorax morphology, Metaphyseal widening, Dysphagia, Abnormal form... ORPHA:73230
Short-Rib Thoracic Dysplasia 11 With Or Without Polydactyly
Postaxial polydactyly, Lateral clavicle hook, Respiratory insufficiency, Bell-shaped thorax, Shor... OMIM:615633
Wolf-Hirschhorn Syndrome
Decreased muscle mass, Abnormal form of the vertebral bodies, Conductive hearing impairment, Abno... OMIM:194190
Pelviscapular Dysplasia
Brachydactyly, Redundant neck skin, Abnormal pinna morphology, Hypoplastic scapulae, Congenital h... ORPHA:93333
Myhre Syndrome
Short neck, Hypoplastic iliac wing, Broad ribs, Vertebral fusion, Short toe, Generalized muscle h... OMIM:139210
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 3
Osteopenia, Joint laxity, Short metacarpal, Camptodactyly of finger, Kyphoscoliosis, Thenar muscl... OMIM:612350
Gamma-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R5
Scapular winging, Calf muscle pseudohypertrophy, Lumbar hyperlordosis, Achilles tendon contractur... ORPHA:353
Spondylometaphyseal Dysplasia, A4 Type
Limitation of joint mobility, Coxa vara, Platyspondyly, Flared, irregular rib ends, Short palm ORPHA:168555
Brachytelephalangic Chondrodysplasia Punctata
Cervical kyphosis, Tachypnea, Hypoplastic cervical vertebrae, Vertebral hypoplasia, Neonatal resp... ORPHA:79345
Mucopolysaccharidosis Type 4
Joint dislocation, Bowing of the long bones, Short neck, Hyperlordosis, Kyphosis, Coxa valga, Sho... ORPHA:582
Fibrochondrogenesis 2
Hypoplastic ischia, Hypoplastic ilia, Cupped ribs, Metaphyseal widening, Hypoplastic pubic bone, ... OMIM:614524
Mucopolysaccharidosis, Type Iiia
Inguinal hernia, Thickened ribs, Hyperactivity, Joint stiffness, Ovoid thoracolumbar vertebrae, S... OMIM:252900
Thoracolaryngopelvic Dysplasia
Metaphyseal widening, Irregular chondrocostal junctions, Bell-shaped thorax, Irregular vertebral ... OMIM:187760
Greenberg Dysplasia
Beaded ribs, Multiple prenatal fractures, Patchy variation in bone mineral density, Tetraphocomel... OMIM:215140
Menkes Disease
Joint laxity, Metaphyseal spurs, Metaphyseal widening, Osteoporosis, Cutis laxa, Death in childho... OMIM:309400
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 2
Skeletal muscle hypertrophy, Muscular dystrophy OMIM:613158
Acro-Renal-Mandibular Syndrome
Low-set, posteriorly rotated ears, Abnormal clavicle morphology, Hypoplasia of the ulna, Hypoplas... ORPHA:958
Emphysema, Congenital Lobar
Respiratory distress OMIM:130710
Elastosis Perforans Serpiginosa
Cutis laxa ORPHA:79148
Myhre Syndrome
Craniofacial hyperostosis, Brachydactyly, Inguinal hernia, Joint stiffness, Abnormal rib morpholo... ORPHA:2588
Corpus Callosum, Agenesis Of, With Facial Anomalies And Robin Sequence
Respiratory distress, Syndactyly, Neonatal respiratory distress, Redundant neck skin, Abnormal pi... OMIM:217980
Robinow Syndrome
Fused thoracic vertebrae, Syndactyly, Mixed hearing impairment, Brachydactyly, Posteriorly rotate... ORPHA:97360
Lenz-Majewski Hyperostotic Dwarfism
Redundant skin, Abnormal finger morphology, Symphalangism affecting the phalanges of the hand, Sh... ORPHA:2658
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 2
Postaxial hand polydactyly, Hyperextensible skin OMIM:615937
Osteogenesis Imperfecta, Type Viii
Osteopenia, Multiple prenatal fractures, Femoral bowing, Tibial bowing, Decreased skull ossificat... OMIM:610915
Fountain Syndrome
Craniofacial hyperostosis, Brachydactyly, Coarse metaphyseal trabecularization, Metaphyseal dyspl... ORPHA:3219
Cardiac-Valvular Ehlers-Danlos Syndrome
Joint dislocation, Genu recurvatum, Calcaneovalgus deformity, Absent phalangeal crease, Hypermobi... ORPHA:230851
Frontometaphyseal Dysplasia 1
Carpal synostosis, Skeletal muscle atrophy, Limited elbow movement, Knee flexion contracture, Inc... OMIM:305620
Wrinkly Skin Syndrome
Osteopenia, Decreased muscle mass, Congenital hip dislocation, Inguinal hernia, Kyphoscoliosis, D... ORPHA:2834
Multiple Pterygium-Malignant Hyperthermia Syndrome
Skeletal muscle atrophy, Congenital muscular torticollis, Finger syndactyly, Posteriorly rotated ... ORPHA:2215
Bardet-Biedl Syndrome 16
Respiratory distress, Polydactyly, Hearing impairment OMIM:615993
Osteogenesis Imperfecta, Type Ii
Crumpled long bones, Broad long bones, Recurrent fractures, Beaded ribs, Multiple prenatal fractu... OMIM:166210
Dysosteosclerosis
Osteopenia, Sclerosis of hand bone, Increased intervertebral space, Hypoplastic vertebral bodies,... OMIM:224300
Lipodystrophy, Congenital Generalized, Type 4
Osteopenia, Centrally nucleated skeletal muscle fibers, Hyperlordosis, Spinal rigidity, Flexion c... OMIM:613327
Multiple Pterygium Syndrome, X-Linked
Joint dislocation, Vertebral fusion, Abnormal cervical curvature, Multiple pterygia, Flexion cont... OMIM:312150
Bronchopulmonary Dysplasia
Respiratory distress, Central apnea, Respiratory failure requiring assisted ventilation, Dyspnea,... ORPHA:70589
Thanatophoric Dysplasia, Type I
Bowing of the long bones, Neonatal respiratory distress, Small abnormally formed scapulae, Short ... OMIM:187600
10Q22.3Q23.3 Microduplication Syndrome
Abnormal clavicle morphology, Abnormal rib morphology, Low-set ears ORPHA:276422
Dystonia 31
Abnormal posturing, Dysphagia OMIM:619565
Hypertrophic Osteoarthropathy, Primary, Autosomal Recessive, 1
Osteopenia, Arthropathy, Long clavicles, Redundant skin, Pectus excavatum, Erythema, Osteoporosis... OMIM:259100
Achondrogenesis, Type Ia
Abnormal femoral metaphysis morphology, Beaded ribs, Short neck, Bowing of the legs, Abnormal han... OMIM:200600
Costello Syndrome
Low-set, posteriorly rotated ears, Redundant skin, Short neck, Lack of skin elasticity, Ulnar dev... ORPHA:3071
Renal Hypodysplasia/Aplasia 2
Redundant skin OMIM:615721
X-Linked Centronuclear Myopathy
Respiratory distress, Respiratory failure requiring assisted ventilation, Pneumonia, Weakness of ... ORPHA:596
Leri Pleonosteosis
Genu recurvatum, Camptodactyly of finger, Joint stiffness, Elbow dislocation, Abnormal finger mor... ORPHA:2900
Craniometadiaphyseal Dysplasia
Osteopenia, Broad long bones, Coxa valga, Cubitus valgus, Wide anterior fontanel, Flared metaphys... OMIM:269300
Cleidocranial Dysplasia
Sinusitis, Coxa vara, Narrow chest, Hypoplastic inferior ilia, Clinodactyly of the 5th finger, De... ORPHA:1452
Hypogonadism, Male, With Mental Retardation And Skeletal Anomalies
Superior rib anomalies, Abnormality of the cervical spine OMIM:307500
Cranioectodermal Dysplasia 2
Joint laxity, Syndactyly, Brachydactyly, Inguinal hernia, Craniosynostosis, Short neck, Pectus ex... OMIM:613610
Body Skin Hyperlaxity Due To Vitamin K-Dependent Coagulation Factor Deficiency
Redundant skin, Cutis laxa ORPHA:91135
Recombinant 8 Syndrome
Redundant skin, Camptodactyly of finger, Pectus excavatum, Patellar aplasia, Abnormal sternum mor... ORPHA:96167
Poland Syndrome
Aplasia/Hypoplasia of the thumb, Congenital diaphragmatic hernia, Short neck, Aplasia of the pect... ORPHA:2911
Hyperparathyroidism, Transient Neonatal
Osteopenia, Respiratory distress, Wide cranial sutures, Short femur, Inguinal hernia, Recurrent f... OMIM:618188
Craniometadiaphyseal Dysplasia, Wormian Bone Type
Osteopenia, Increased bone mineral density, Broad femoral neck, Short tubular bones of the hand, ... ORPHA:85184
Cutis Laxa, Autosomal Recessive, Type Ic
Posterolateral diaphragmatic hernia, Death in infancy, Osteopenia, Joint laxity, Sandal gap, Redu... OMIM:613177
Cleidocranial Dysplasia 1
Respiratory distress, Persistent open anterior fontanelle, Short middle phalanx of the 2nd finger... OMIM:119600
Myopathy, Myofibrillar, 9, With Early Respiratory Failure
Scapular winging, Reduced vital capacity, Quadriceps muscle weakness, Achilles tendon contracture... OMIM:603689
Achondrogenesis Type 1A
Multiple rib fractures, Recurrent fractures, Short neck, Abnormal enchondral ossification, Short ... ORPHA:93299
Mucopolysaccharidosis, Type Vi
Metaphyseal widening, Flexion contracture, Pectus carinatum, Hypoplastic iliac wing, Broad ribs, ... OMIM:253200
Auriculocondylar Syndrome 2A
Overfolding of the superior helices, Respiratory distress, Posteriorly rotated ears, Apnea, Cleft... OMIM:614669
Congenital Disorder Of Glycosylation, Type Iq
Dry skin, Dysphagia, Low-set ears, Cutis laxa OMIM:612379
Male Hypergonadotropic Hypogonadism-Intellectual Disability-Skeletal Anomalies Syndrome
Short neck, Abnormal rib morphology, Hemivertebrae, Abnormal form of the vertebral bodies, Abnorm... ORPHA:2234
Arterial Tortuosity Syndrome
Respiratory distress, Inguinal hernia, Arachnodactyly, Redundant skin, Craniosynostosis, Rocker b... ORPHA:3342
Lethal Kniest-Like Dysplasia
Abnormal ischium morphology, Broad long bones, Anterior rib cupping, Short neck, Hypoplastic ilia... ORPHA:2347
Diamond-Blackfan Anemia 10
Respiratory distress, Posteriorly rotated ears, Congenital diaphragmatic hernia, Morgagni diaphra... OMIM:613309
Neonatal Marfan Syndrome
Long toe, Neonatal respiratory distress, Arachnodactyly, Long fingers, Flexion contracture, Pectu... ORPHA:284979
Mucopolysaccharidosis Type 6
Epiphyseal dysplasia, Sinusitis, Ovoid vertebral bodies, Short neck, Joint stiffness, Kyphosis, G... ORPHA:583
Granulomatous Slack Skin
Erythema, Redundant skin, Cutis laxa ORPHA:33111
Trichorhinophalangeal Syndrome, Type Ii
Osteopenia, Protruding ear, Rib exostoses, Clinodactyly of the 5th finger, Syndactyly, Scapular w... OMIM:150230
Autosomal Dominant Cutis Laxa
Osteopenia, Redundant neck skin, Genu recurvatum, Redundant skin, Protruding ear, Abnormal curvat... ORPHA:90348
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia
11 pairs of ribs, Metaphyseal cupping of proximal phalanges, Thin ribs, Metaphyseal cupping of me... OMIM:300863
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 5
Vertebral fusion, Hyperlordosis, Reduced forced vital capacity, Kyphosis, Achilles tendon contrac... OMIM:607155
Three M Syndrome 2
Scapular winging, Lumbar hyperlordosis, Short neck, Hyperlordosis, Short thorax, Thin ribs, Protr... OMIM:612921
Thin Ribs-Tubular Bones-Dysmorphism Syndrome
Low-set, posteriorly rotated ears, Slender long bone, Abnormal pelvic girdle bone morphology, Abn... ORPHA:1506
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 1, With Or Without Fractures
Short neck, Metaphyseal widening, Flexion contracture, Delayed proximal femoral epiphyseal ossifi... OMIM:271640
Trichorhinophalangeal Syndrome Type 2
Low-set, posteriorly rotated ears, Joint dislocation, Redundant skin, Avascular necrosis of the c... ORPHA:502
Blepharonasofacial Malformation Syndrome
Finger syndactyly, Inguinal hernia, Redundant skin, External ear malformation, Joint hyperflexibi... ORPHA:1252
Short Chain Acyl-Coa Dehydrogenase Deficiency
Respiratory distress, Myopathy ORPHA:26792
Multiple Pterygium Syndrome, Lethal Type
Joint dislocation, Vertebral fusion, Abnormal cervical curvature, Multiple pterygia, Flexion cont... OMIM:253290
Microcephaly-Polymicrogyria-Corpus Callosum Agenesis Syndrome
Respiratory distress ORPHA:171703
Arthrochalasia Ehlers-Danlos Syndrome
Joint dislocation, Inguinal hernia, Joint stiffness, Coxa valga, Avascular necrosis of the capita... ORPHA:1899
Schinzel-Giedion Syndrome
Respiratory distress, Abnormal clavicle morphology, Short neck, Tibial bowing, Broad ribs, Wide a... ORPHA:798
Dysmorphism-Cleft Palate-Loose Skin Syndrome
Redundant skin ORPHA:1779
Cenani-Lenz Syndrome
Hypoplasia of the ulna, Finger syndactyly, Toe syndactyly, Elbow dislocation, Short thumb, Hypopl... ORPHA:3258
Microcephaly-Seizures-Intellectual Disability-Heart Disease Syndrome
Respiratory distress, Redundant neck skin, Postaxial hand polydactyly, Abnormal rib morphology, P... ORPHA:2519
Chronic Recurrent Multifocal Osteomyelitis 2, With Periostitis And Pustulosis
Osteopenia, Respiratory distress, Osteomyelitis, Periostitis, Osteolysis, Fused cervical vertebra... OMIM:612852
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy
Occipital encephalocele, Redundant neck skin, Apnea, Proximal femoral metaphyseal irregularity, T... ORPHA:397715
Mucopolysaccharidosis, Type Vii
Spatulate ribs, Short neck, Flexion contracture, Pectus carinatum, Narrow greater sciatic notch, ... OMIM:253220
Mosaic Trisomy 8
Abnormal pinna morphology, Camptodactyly of finger, Short neck, Limitation of joint mobility, Abn... ORPHA:96061
Radio-Renal Syndrome
Respiratory distress, Short neck, Dyspnea, Hypoplasia of the radius, Abnormal rib morphology, Abn... ORPHA:3015
Emanuel Syndrome
Sacral dimple, Redundant neck skin, Multiple joint contractures, Congenital hip dislocation, Cong... ORPHA:96170
Congenital Diaphragmatic Hernia
Respiratory distress, Congenital diaphragmatic hernia, Aplasia/Hypoplasia of the diaphragm, Hypox... ORPHA:2140
Hypophosphatasia
Bowing of the long bones, Recurrent fractures, Craniosynostosis, Emphysema, Abnormal rib morpholo... ORPHA:436
Progressive Supranuclear Palsy-Parkinsonism Syndrome
Respiratory distress, Neuromuscular dysphagia, Axial muscle stiffness ORPHA:240085
Mucopolysaccharidosis, Type Iiid
Thoracic scoliosis, Thickened ribs, Short neck, Ovoid thoracolumbar vertebrae, Hypoplastic verteb... OMIM:252940
Stuve-Wiedemann Syndrome 1
Enlarged joints, Apnea, Short neck, Knee flexion contracture, Femoral bowing, Tibial bowing, Shor... OMIM:601559
Vacterl/Vater Association
Low-set, posteriorly rotated ears, Occipital encephalocele, Finger syndactyly, Abnormal intervert... ORPHA:887
Cardiomyopathy, Dilated, 1Gg
Respiratory distress, Left ventricular noncompaction OMIM:613642
Dystonia 1, Torsion, Autosomal Dominant
Torticollis, Multiple joint contractures, Facial palsy, Hyperlordosis, Kyphosis, Scoliosis, Dysph... OMIM:128100
Coffin-Lowry Syndrome
Hyperextensibility of the finger joints, Short metacarpal, Inguinal hernia, Delayed closure of th... OMIM:303600
Pallister-Hall Syndrome
Hemivertebrae, Paroxysmal bursts of laughter, Low-set, posteriorly rotated ears, Mesoaxial polyda... ORPHA:672
Cardiofaciocutaneous Syndrome
Low-set, posteriorly rotated ears, Redundant skin, Abnormal morphology of ulna, Short neck, Pectu... ORPHA:1340
Cat-Eye Syndrome
Hip dysplasia, Abnormal rib morphology, Hearing impairment ORPHA:195
Congenital Osteogenesis Imperfecta-Microcephaly-Cataracts Syndrome
Low-set, posteriorly rotated ears, Recurrent fractures, Abnormal rib morphology, Joint hyperflexi... ORPHA:2772
Metaphyseal Dysostosis, Impaired Intellectual Development, And Conductive Deafness
Metaphyseal widening, Flat glenoid fossa, Coxa vara, Short palm, Conductive hearing impairment, G... OMIM:250420
Elastoderma
Premature skin wrinkling, Cutis laxa ORPHA:228240
Combined Oxidative Phosphorylation Deficiency 30
Left ventricular hypertrophy, Death in infancy, Sensorineural hearing impairment, Respiratory dis... OMIM:616974
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 2
Encephalocele, Death in infancy, Spinal rigidity, Skeletal muscle hypertrophy, Macroglossia, Cong... OMIM:613150
Kagami-Ogata Syndrome
Omphalocele, Inguinal hernia, Long clavicles, Diastasis recti, Kyphoscoliosis, Coxa valga, Long f... OMIM:608149
Kagami-Ogata Syndrome
Omphalocele, Respiratory failure requiring assisted ventilation, Inguinal hernia, Diastasis recti... ORPHA:254519
Opsismodysplasia
Short neck, Hypoplastic vertebral bodies, Narrow chest, Short palm, Short phalanx of finger, Shor... OMIM:258480
Otopalatodigital Syndrome Type 2
Preaxial polydactyly, Narrow chest, Short palm, Abnormal vertebral segmentation and fusion, Synos... ORPHA:90652
Spondylometaphyseal Dysplasia, 'Corner Fracture' Type
Short neck, Coxa vara, Protruding ear, Pectus carinatum, Tibial bowing, Reduced bone mineral dens... ORPHA:93315
Hyperkalemic Periodic Paralysis
Skeletal muscle atrophy, Death in infancy, Death in early adulthood, Flexion contracture, Respira... ORPHA:682
Lethal Congenital Contracture Syndrome 10
Omphalocele, Torticollis, Thoracic scoliosis, Stiff neck, Overlapping fingers, Short neck, Increa... OMIM:617022
Lipodystrophy, Familial Partial, Type 4
Skeletal muscle hypertrophy, Miscarriage OMIM:613877
Mucopolysaccharidosis, Type X
Irregular acetabular roof, Spatulate ribs, Broad clavicles, Hyperlordosis, Genu valgum, Platyspon... OMIM:619698
Cutis Laxa, Autosomal Recessive, Type Iid
Inguinal hernia, Redundant skin, Kyphoscoliosis, Pneumothorax, Hip dislocation, Protruding ear, C... OMIM:617403
Aspergillosis
Sinusitis, Osteomyelitis, Pneumonia, Dyspnea, Asthma, Chronic pulmonary obstruction, Abnormal rib... ORPHA:1163
Amyloidosis, Finnish Type
Cutis laxa OMIM:105120
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome
Hyperextensibility at elbow, Lumbar hyperlordosis, Arachnodactyly, Kyphoscoliosis, Absent thumb, ... ORPHA:500150
Paramyotonia Congenita
Skeletal muscle hypertrophy, Inspiratory stridor OMIM:168300
Prune Belly Syndrome
Congenital hip dislocation, Pectus excavatum, Abnormal rib morphology, Aplasia of the abdominal w... ORPHA:2970
Immunodeficiency 95
Respiratory distress, Respiratory failure, Recurrent viral pneumonia OMIM:619773
Osteogenesis Imperfecta, Type Xv
Recurrent fractures, Thin ribs, Platyspondyly, Bowing of limbs due to multiple fractures, Scolios... OMIM:615220
Cutis Laxa, Autosomal Recessive, Type Ib
Inguinal hernia, Abnormal pinna morphology, Arachnodactyly, Congenital diaphragmatic hernia, Pect... OMIM:614437
Autosomal Recessive Cutis Laxa Type 1
Joint laxity, Inguinal hernia, Redundant skin, Wide anterior fontanel, Pneumothorax, Hip dislocat... ORPHA:90349
Craniosynostosis, Herrmann-Opitz Type
Finger syndactyly, Craniosynostosis, Split hand, Abnormal rib morphology, Abnormal antihelix morp... ORPHA:2145
Myotonia Congenita, Autosomal Recessive
Skeletal muscle hypertrophy, Muscle hypertrophy of the lower extremities, Dysphagia OMIM:255700
Spondyloepimetaphyseal Dysplasia, Missouri Type
Radial bowing, Irregular sclerotic endplates, Osteoarthritis, Ulnar bowing, Flared metaphysis, Co... OMIM:602111
Huntington Disease-Like 1
Abnormal shoulder morphology, Restlessness, Abnormal posturing ORPHA:157941
Osteogenesis Imperfecta, Type Xvi
Osteopenia, Multiple rib fractures, Angulated humerus, Bowing of the long bones, Wormian bones, R... OMIM:616229
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type
Death in infancy, Hypoplastic iliac wing, Metaphyseal chondrodysplasia, Abnormality of the calcan... ORPHA:163966
Congenital Hypothyroidism Due To Maternal Intake Of Antithyroid Drugs
Respiratory distress, Delayed epiphyseal ossification, Macroglossia, Abnormal epiphysis morpholog... ORPHA:226313
Episodic Ataxia Type 1
Respiratory distress, Calf muscle hypertrophy, Kyphoscoliosis, Scoliosis ORPHA:37612
Carpenter Syndrome 2
Short neck, Preaxial polydactyly, Coxa vara, Pectus carinatum, Protruding ear, Knee flexion contr... OMIM:614976
Cardiomyopathy-Hypotonia-Lactic Acidosis Syndrome
Respiratory distress, Myopathy ORPHA:91130
Multinucleated Neurons, Anhydramnios, Renal Dysplasia, Cerebellar Hypoplasia, And Hydranencephaly
Redundant neck skin, Short neck, 2-3 toe syndactyly, Cutaneous syndactyly, Stillbirth, Neonatal d... OMIM:236500
Spondylometaepiphyseal Dysplasia, Short Limb-Hand Type
Short neck, Bowing of the legs, Pectus carinatum, Knee flexion contracture, Abnormal calcificatio... OMIM:271665
Satoyoshi Syndrome
Short metacarpal, Short metatarsal, Osteolytic defects of the phalanges of the hand, Genu valgum,... OMIM:600705
Rhizomelic Skeletal Dysplasia With Or Without Pelger-Huet Anomaly
Joint dislocation, Knee flexion contracture, Femoral bowing, Short 5th metacarpal, Radial bowing,... OMIM:618019
Congenital Disorder Of Glycosylation, Type Ie
Respiratory distress, Ankle flexion contracture, Small hand, Upper limb undergrowth, Knee flexion... OMIM:608799
Spondyloepimetaphyseal Dysplasia, Shohat Type
Short neck, Bowing of the legs, Delayed epiphyseal ossification, Metaphyseal widening, Abnormal v... ORPHA:93352
Focal Facial Dermal Dysplasia Type Iii
Abnormal sacroiliac joint morphology, Redundant skin ORPHA:1807
Congenital Disorder Of Glycosylation, Type Ig
Respiratory distress, Short humerus, Short femur, Abnormal pinna morphology, Sandal gap, Sensorin... OMIM:607143
Frank-Ter Haar Syndrome
Osteopenia, Redundant neck skin, Anterior concavity of thoracic vertebrae, Protruding ear, Short ... OMIM:249420
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies
Hyperextensibility of the finger joints, Internally rotated shoulders, Apnea, Flexion contracture... OMIM:619503
Acrocapitofemoral Dysplasia
Short proximal phalanx of thumb, Coxa vara, Pectus carinatum, Narrow chest, Short palm, Hypoplast... OMIM:607778
Mucopolysaccharidosis, Type Iiic
Hyperactivity, Thickened ribs, Kyphoscoliosis, Joint stiffness, Ovoid thoracolumbar vertebrae, Dy... OMIM:252930
Myotonia, Potassium-Aggravated
Skeletal muscle hypertrophy, Skeletal muscle atrophy, Stridor, Apneic episodes in infancy OMIM:608390
Osteogenesis Imperfecta, Type Xviii
Joint laxity, Bowing of the long bones, Thin bony cortex, Recurrent fractures, Joint hypermobilit... OMIM:617952
Trisomy 13
Kyphosis, Sensorineural hearing impairment, Postaxial hand polydactyly, Abnormal rib morphology, ... ORPHA:3378
Ehlers-Danlos Syndrome, Classic Type, 1
Joint dislocation, Hyperextensibility of the finger joints, Hyperextensibility at elbow, Inguinal... OMIM:130000
Plectin-Related Limb-Girdle Muscular Dystrophy R17
Skeletal muscle atrophy, Axial muscle atrophy, Limb-girdle muscle weakness, Achilles tendon contr... ORPHA:254361
Lethal Congenital Contracture Syndrome 1
Skeletal muscle atrophy, Hypoplasia of the musculature, Abnormal thorax morphology, Neonatal deat... OMIM:253310
Hurler Syndrome
Abnormal clavicle morphology, Death in infancy, Camptodactyly of finger, Short neck, Limitation o... ORPHA:93473
Mucopolysaccharidosis, Type Iiib
Hyperactivity, Thickened ribs, Joint stiffness, Aggressive behavior, Ovoid thoracolumbar vertebra... OMIM:252920
C Syndrome
Low-set, posteriorly rotated ears, Death in infancy, Sacral dimple, Toe syndactyly, Joint disloca... ORPHA:1308
Fibrinolytic Defect
Hyperextensible skin OMIM:134900
Osteoglophonic Dysplasia
Osteopenia, Respiratory distress, Short neck, Short metatarsal, Short palm, Short phalanx of fing... OMIM:166250
Recurrent Respiratory Papillomatosis
Respiratory distress, Nonproductive cough, Wheezing, Tachypnea, Dyspnea, Upper airway obstruction... ORPHA:60032
Mucopolysaccharidosis-Plus Syndrome
Respiratory distress, Short neck, Pectus excavatum, Metaphyseal widening, Flexion contracture, Cl... OMIM:617303
Peroxisome Biogenesis Disorder 1A (Zellweger)
Neonatal respiratory distress, Redundant neck skin, Posteriorly rotated ears, Rocker bottom foot,... OMIM:214100
Oculocerebrocutaneous Syndrome
Finger syndactyly, Congenital hip dislocation, Congenital diaphragmatic hernia, Missing ribs, Ext... ORPHA:1647
Cranioectodermal Dysplasia 3
Joint laxity, Sandal gap, Sagittal craniosynostosis, Postaxial polydactyly, 2-4 toe syndactyly, 2... OMIM:614099
Fontaine Progeroid Syndrome
Redundant skin, Hypoplasia of the abdominal wall musculature, Neonatal death, Conductive hearing ... OMIM:612289
Microcephalic Primordial Dwarfism, Toriello Type
Abnormal rib morphology, Abnormal epiphysis morphology, Brachydactyly ORPHA:2643
Cardiac Valvular Dysplasia, X-Linked
Joint laxity, Joint stiffness, Cutis laxa OMIM:314400
Acetazolamide-Responsive Myotonia
Skeletal muscle hypertrophy, Dysphagia ORPHA:99736
Acromesomelic Dysplasia 4
Thoracic scoliosis, Short metatarsal, Short phalanx of finger, Genu varum, Short metacarpal, Lumb... OMIM:619636
Laryngotracheoesophageal Cleft Type 4
Respiratory insufficiency, Abnormal rib morphology, Abnormal form of the vertebral bodies ORPHA:93941
Macular Degeneration, Age-Related, 3
Distal amyotrophy, Hyperextensible skin, Joint hypermobility OMIM:608895
Mucopolysaccharidosis Type 3
Abnormal clavicle morphology, Flexion contracture, Abnormal form of the vertebral bodies, Reduced... ORPHA:581
Immunodeficiency 49
Wormian bones, Umbilical hernia, Posteriorly rotated ears, Cutis laxa OMIM:617237
Viss Syndrome
Generalized joint laxity, Pectus carinatum, Hyperextensible skin, Emphysema, Long toe, Joint laxi... OMIM:619472
Kyphoscoliotic Ehlers-Danlos Syndrome
Osteopenia, Skeletal muscle atrophy, Congenital hip dislocation, Pectus carinatum, Knee dislocati... ORPHA:536545
Brody Disease
Skeletal muscle hypertrophy, Flexion contracture OMIM:601003
Lethal Congenital Contracture Syndrome 5
Death in infancy, Centrally nucleated skeletal muscle fibers, Flexion contracture, Respiratory in... OMIM:615368
Atelosteogenesis, Type I
Short neck, Short metatarsal, Tibial bowing, Knee dislocation, Narrow chest, Neonatal death, Vert... OMIM:108720
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins
Omphalocele, Neonatal respiratory distress, Diastasis recti, Posterior rib fusion, Low-set ears, ... OMIM:265380
Specific Granule Deficiency 2
Osteopenia, Death in infancy, Brachydactyly, Posteriorly rotated ears, Abnormal pinna morphology,... OMIM:617475
Pierre Robin Sequence With Pectus Excavatum And Rib And Scapular Anomalies
Pectus excavatum, Hypoplastic distal segments of scapulae, Abnormal rib morphology, Joint hypermo... OMIM:602196
Alg12-Cdg
Abnormal pinna morphology, Redundant skin, Sandal gap, Proximal placement of thumb, Ulnar deviati... ORPHA:79324
Marfanoid Habitus-Autosomal Recessive Intellectual Disability Syndrome
Osteopenia, Small hypothenar eminence, Arachnodactyly, Hypoplasia of the musculature, Thenar musc... ORPHA:2463
Vertebral Hypersegmentation And Orofacial Anomalies
Scapular winging, Inguinal hernia, Pectus excavatum, Darwin tubercle of helix, Supernumerary ribs... OMIM:619122
Growth Delay-Hydrocephaly-Lung Hypoplasia Syndrome
Omphalocele, Abnormally ossified vertebrae, Radial bowing, Bowing of the long bones, Abnormal rib... ORPHA:3035
Van Den Ende-Gupta Syndrome
Glenoid fossa hypoplasia, Lateral clavicle hook, 2-3 toe cutaneous syndactyly, Protruding ear, Kn... OMIM:600920
Holzgreve Syndrome
Low-set, posteriorly rotated ears, Abnormally ossified vertebrae, Abnormal morphology of ulna, Jo... ORPHA:2167
Acrofrontofacionasal Dysostosis 2
Syndactyly, Sacral dimple, Redundant neck skin, Posteriorly rotated ears, Broad hallux, Wide ante... OMIM:239710
Cole-Carpenter Syndrome
Crumpled long bones, Bowing of the long bones, Recurrent fractures, Kyphosis, Abnormal rib morpho... ORPHA:2050
Acrorenal-Mandibular Syndrome
Congenital diaphragmatic hernia, Hemivertebrae, Narrow chest, Hypoplasia of the ulna, Split hand,... OMIM:200980
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency
Flexion contracture, Femoral bowing, Narrow chest, Conductive hearing impairment, Abnormality of ... ORPHA:95699
Gaucher Disease, Perinatal Lethal
Respiratory distress, Petechiae, Apnea, Microtia, Low-set ears, Dysphagia, Neonatal death, Arthro... OMIM:608013
Trisomy 1Q
Omphalocele, Toe syndactyly, Arachnodactyly, Camptodactyly of finger, Congenital diaphragmatic he... ORPHA:261344
Antley-Bixler Syndrome
Low-set, posteriorly rotated ears, Arachnodactyly, Camptodactyly of finger, Recurrent fractures, ... ORPHA:83
Ehlers-Danlos Syndrome, Cardiac Valvular Type
Joint laxity, Inguinal hernia, Genu recurvatum, Pectus excavatum, Calcaneovalgus deformity, Hyper... OMIM:225320
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Hypermethylation
Omphalocele, Diastasis recti, Large placenta, Coat hanger sign of ribs, Umbilical hernia, Thoraci... ORPHA:254534
Short Stature, Optic Nerve Atrophy, And Pelger-Huet Anomaly
Syndactyly, Broad hallux, Sandal gap, Short neck, Cutis laxa, Brachydactyly OMIM:614800
Familial Osteodysplasia, Anderson Type
Recurrent fractures, Aplastic clavicle, Missing ribs, Elbow dislocation, Kyphosis, Abnormal rib m... ORPHA:2769
Bent Bone Dysplasia Syndrome 2
Osteopenia, Bowed humerus, Short neck, Short tibia, Ulnar bowing, Thin ribs, Femoral bowing, Coro... OMIM:620076
Mgat2-Cdg
Low-set, posteriorly rotated ears, Osteopenia, Respiratory distress, Posteriorly rotated ears, Pe... ORPHA:79329
Monosomy 9Q22.3
Hyperactivity, Rhabdomyosarcoma, Short neck, Pectus excavatum, Kyphosis, Abnormal rib morphology,... ORPHA:77301
Ichthyosis-Alopecia-Eclabion-Ectropion-Intellectual Disability Syndrome
Dry skin, Scaling skin, Cutis laxa ORPHA:2269
Loeys-Dietz Syndrome 4
Joint laxity, Torticollis, Inguinal hernia, Arachnodactyly, Protrusio acetabuli, Pneumothorax, Jo... OMIM:614816
Camptodactyly Syndrome, Guadalajara Type 3
Osteopenia, Abnormal pinna morphology, Short neck, Thickened cortex of long bones, Abnormal rib m... ORPHA:488434
Farber Disease
Respiratory distress, Skeletal muscle atrophy, Abnormality of the knee, Short toe, Flexion contra... ORPHA:333
Ehlers-Danlos Syndrome, Hypermobility Type
Joint laxity, Joint dislocation, Striae distensae, Osteoarthritis, Hyperextensible skin, Soft ski... OMIM:130020
Classical-Like Ehlers-Danlos Syndrome Type 1
Skeletal muscle atrophy, Joint hyperflexibility, Hyperextensible skin, Spina bifida occulta, Join... ORPHA:230839
Short Stature-Micrognathia Syndrome
Joint laxity, Bowing of the legs, Coxa valga, Metaphyseal widening, 2-3 toe syndactyly, Skeletal ... OMIM:617164
Gapo Syndrome
Abnormal clavicle morphology, Abnormal thorax morphology, Abnormal form of the vertebral bodies, ... ORPHA:2067
Ear-Patella-Short Stature Syndrome
Respiratory distress, Microtia, third degree, Posteriorly rotated ears, Camptodactyly of finger, ... ORPHA:2554
Achondrogenesis, Type Ii
Barrel-shaped chest, Absent vertebral body mineralization, Broad long bones, Short tubular bones ... OMIM:200610
Short-Rib Thoracic Dysplasia 12
Short neck, Bowing of the legs, Thoracic dysplasia, Narrow chest, Short palm, Neonatal death, Sho... OMIM:269860
Anaplastic Thyroid Carcinoma
Respiratory distress, Dyspnea, Upper airway obstruction, Dysphagia, Abnormal skeletal muscle morp... ORPHA:142
Occipital Horn Syndrome
Osteopenia, Coxa vara, Pectus carinatum, Humerus varus, Hyperextensible skin, Narrow chest, Short... ORPHA:198
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 1
Osteopenia, Joint dislocation, Genu recurvatum, Flexion contracture, Pectus carinatum, Hyperexten... OMIM:130070
Alagille Syndrome
Hypoplasia of the ulna, Abnormal rib morphology, Abnormal form of the vertebral bodies, Protrudin... ORPHA:52
Mullerian Duct Aplasia, Unilateral Renal Agenesis, And Cervicothoracic Somite Anomalies
Conductive hearing impairment, Sprengel anomaly, Abnormality of the vertebral column, Abnormal ri... OMIM:601076
Congenital Tracheomalacia
Neonatal respiratory distress, Apnea, Intercostal retractions, Pneumonia, Productive cough, Dyspn... ORPHA:95430
Pyknoachondrogenesis
Craniofacial hyperostosis, Abnormal intramembranous ossification, Hypoplastic ischia, Short iliac... ORPHA:3003
Cantú Syndrome
Finger syndactyly, Broad hallux phalanx, Ovoid vertebral bodies, Short hallux, Short neck, Coxa v... ORPHA:1517
Noonan Syndrome 8
Short neck, Abnormal sternum morphology, Hyperextensible skin, Low-set ears, Palmoplantar cutis l... OMIM:615355
Coenzyme Q10 Deficiency, Primary, 8
Left ventricular hypertrophy, Flexion contracture, Respiratory distress, Hearing impairment OMIM:616733
Osteopathia Striata With Cranial Sclerosis
Apnea, Craniofacial osteosclerosis, Osteopathia striata, Conductive hearing impairment, Clinodact... OMIM:300373
Muscular Dystrophy, Congenital, With Or Without Seizures
Respiratory distress, Hypoglycosylation of alpha-dystroglycan, Respiratory failure, Progressive h... OMIM:620166
Lissencephaly Syndrome, Norman-Roberts Type
Respiratory distress, Rocker bottom foot, Low-set ears, Dysphagia, Adducted thumb ORPHA:89844
Dermatosparaxis Ehlers-Danlos Syndrome
Osteopenia, Joint dislocation, Inguinal hernia, Osteomalacia, Joint stiffness, Coxa valga, Avascu... ORPHA:1901
Cole-Carpenter Syndrome 2
Osteopenia, Wide cranial sutures, Recurrent fractures, Pectus excavatum, Kyphosis, Thin ribs, Pla... OMIM:616294
Chromosome 18P Deletion Syndrome
Barrel-shaped chest, Redundant neck skin, Posteriorly rotated ears, Toe syndactyly, Short neck, C... OMIM:146390
Multiple Synostoses Syndrome 1
Hypoplastic spinal processes, Symphalangism affecting the phalanges of the hand, Cutaneous finger... OMIM:186500
Microlissencephaly-Micromelia Syndrome
11 pairs of ribs, Adducted thumb, Respiratory distress, Short neck ORPHA:50810
Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 1
Osteopenia, Joint laxity, Joint dislocation, Congenital hip dislocation, Arachnodactyly, Protrusi... OMIM:225400
Fibrous Dysplasia Of Bone
Abnormal clavicle morphology, Abnormal tibia morphology, Abnormal femur morphology, Coxa vara, Pa... ORPHA:249
Cryptogenic Organizing Pneumonia
Respiratory distress, Bronchial breath sound, Crackles, Anorexia, Nonproductive cough, Dyspnea, W... ORPHA:1302
Zaki Syndrome
Sacral dimple, Toe syndactyly, Congenital diaphragmatic hernia, Long fingers, Cupped ear, Hyperex... OMIM:619648
Gm1-Gangliosidosis, Type I
Death in infancy, Inguinal hernia, Thickened ribs, Short neck, Joint stiffness, Kyphosis, Hypopla... OMIM:230500
Avian Influenza
Respiratory distress, Miscarriage, Pneumonia, Productive cough, Nonproductive cough, Dyspnea, Rha... ORPHA:454836
Spinocerebellar Ataxia-Dysmorphism Syndrome
Low-set, posteriorly rotated ears, Genu recurvatum, Reduced bone mineral density, Joint hyperflex... ORPHA:1185
Gm1 Gangliosidosis Type 1