banner
Genes Phenotypes Help, News, Blog

Gene: Deaf1 MGI:1858496

Log in to follow
Not currently registered for phenotyping at IMPC

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

Gene Summary

Name:
DEAF1, transcription factor
Synonyms:
NUDR,  suppressin,  C230009B13Rik

Order Alleles

IMPC Data Collections

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

IMPC Phenotype Summary

Significant
Not Significant
Not tested

View all our phenotype data below

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 Deaf1 mutations

The analysis uses data from IMPC, along with published data on other mouse mutants, in comparison to human disease reports in OMIM, Orphanet, and DECIPHER.

Phenotype comparisons summarize the similarity of mouse phenotypes with human disease phenotypes.

The table below shows human diseases associated to Deaf1 by orthology or direct annotation.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Smith-Magenis Syndrome
Toe syndactyly, Joint stiffness, Abnormal form of the vertebral bodies, Hand polydactyly, Scolios... ORPHA:819
Vulto-Van Silfhout-De Vries Syndrome
Joint laxity, Prominent fingertip pads, Sacral dimple, 2-3 toe cutaneous syndactyly OMIM:615828
Neurodevelopmental Disorder With Hypotonia And Impaired Expressive Language And With Or Without Seizures
OMIM:617171
Intellectual Disability-Epilepsy-Extrapyramidal Syndrome
ORPHA:468620

The table below shows human diseases predicted to be associated to Deaf1 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Cervical Rib
Cervical ribs OMIM:117900
Spondylocostal Dysostosis 3, Autosomal Recessive
Contracture of the proximal interphalangeal joint of the 2nd finger, Kyphosis, Hypoplasia of the ... OMIM:609813
Diaphanospondylodysostosis
Short neck, Missing ribs, Myelomeningocele, Short thorax, Enlarged thorax, Narrow pelvis bone, Ab... ORPHA:66637
Isolated Klippel-Feil Syndrome
Spina bifida, Short neck, Abnormal sacrum morphology, Abnormal rib morphology, Abnormal shoulder ... ORPHA:2345
Spondylocostal Dysostosis 1, Autosomal Recessive
Back pain, Death in infancy, Vertebral fusion, Block vertebrae, Abnormal odontoid process morphol... OMIM:277300
Spondylocostal Dysostosis 2, Autosomal Recessive
Short neck, Vertebral clefting, Rib fusion, Hemivertebrae, Vertebral segmentation defect OMIM:608681
Spondylocostal Dysostosis 5
Vertebral fusion, Low back pain, Missing ribs, Short neck, Hemivertebrae, Pectus carinatum, Poste... OMIM:122600
Klippel-Feil Syndrome 3, Autosomal Dominant
Thoracic scoliosis, Cervical C3/C4 vertebral fusion, Cervical C5/C6 vertebrae fusion OMIM:613702
Autosomal Dominant Spondylocostal Dysostosis
Missing ribs, Short neck, Hyperlordosis, Abnormal sacrum morphology, Short thorax, Abnormal rib m... ORPHA:1797
Spondylocostal Dysostosis 4, Autosomal Recessive
Vertebral fusion, Abnormal odontoid process morphology, Block vertebrae, Missing ribs, Pectus exc... OMIM:613686
Becker Nevus Syndrome
Pectus excavatum, Kyphosis, Abnormal tibia morphology, Rib fusion, Pectus carinatum, Supernumerar... ORPHA:64755
Wildervanck Syndrome
Fused cervical vertebrae, Meningocele, Short neck ORPHA:3456
Poland Syndrome
Syndactyly, Unilateral oligodactyly, Rib fusion, Hemivertebrae, Unilateral brachydactyly, Short r... OMIM:173800
Klippel-Feil Syndrome 2, Autosomal Recessive
Short neck, Fused cervical vertebrae, Scoliosis, Cervical C2/C3 vertebral fusion, Sprengel anomaly OMIM:214300
Radioulnar Synostosis-Microcephaly-Scoliosis Syndrome
Finger syndactyly, Delayed skeletal maturation, Abnormality of the elbow, Abnormal rib morphology... ORPHA:3268
Autosomal Recessive Spondylocostal Dysostosis
Rib segmentation abnormalities, Finger syndactyly, Abnormal intervertebral disk morphology, Campt... ORPHA:2311
Neural Tube Defects, Folate-Sensitive
Spinal dysraphism OMIM:601634
Neurogenic Thoracic Outlet Syndrome
Abnormal rib morphology ORPHA:100073
Sprengel Deformity
Rib segmentation abnormalities, Cervical segmentation defect, Hemivertebrae, Scoliosis, Sprengel ... OMIM:184400
Short-Rib Thoracic Dysplasia 17 With Or Without Polydactyly
Death in infancy, Lateral clavicle hook, Postaxial hand polydactyly, Postaxial foot polydactyly, ... OMIM:617405
Microcephaly-Cervical Spine Fusion Anomalies Syndrome
Abnormal clavicle morphology, Hyperlordosis, Pectus excavatum, Short neck, Kyphosis, Abnormal rib... ORPHA:2522
X-Linked Skeletal Dysplasia-Intellectual Disability Syndrome
Abnormal sacrum morphology, Fused cervical vertebrae, Short middle phalanx of finger, Scoliosis, ... ORPHA:1436
Basal Cell Nevus Syndrome 1
Vertebral fusion, Short distal phalanx of the thumb, Down-sloping shoulders, Spina bifida, Kyphos... OMIM:109400
Atelosteogenesis, Type I
Short neck, Short metatarsal, Tibial bowing, Knee dislocation, Narrow chest, Neonatal death, Vert... OMIM:108720
Contractures, Pterygia, And Spondylocarpotarsal Fusion Syndrome 1B
Fused thoracic vertebrae, Tarsal synostosis, Short neck, Flexion contracture, Absent phalangeal c... OMIM:618469
Femoral-Facial Syndrome
Short femur, Abnormal sacrum morphology, Rib fusion, Abnormal rib morphology, Coxa vara, Abnormal... ORPHA:1988
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 10
Neural tube defect OMIM:615041
Spondylometaphyseal Dysplasia, Type A4
Brachydactyly, Ovoid vertebral bodies, Coxa valga, Metaphyseal sclerosis, Enlargement of the cost... OMIM:609052
Mental Retardation, Skeletal Dysplasia, And Abducens Palsy
Prominent metopic ridge, Fused cervical vertebrae, Short middle phalanx of finger, Scoliosis, Tho... OMIM:309620
Kniest Dysplasia
Arthropathy, Enlarged epiphyses, Enlarged joints, Abnormality of the epiphysis of the femoral hea... ORPHA:485
Acropectorovertebral Dysplasia
Finger syndactyly, Camptodactyly of finger, Tarsal synostosis, Spina bifida, Pectus excavatum, Tr... ORPHA:957
Exostoses, Multiple, Type Ii
Short metacarpal, Pelvic bone exostoses, Protuberances at ends of long bones, Coxa vara, Genu val... OMIM:133701
Exostoses, Multiple, Type I
Short metacarpal, Pelvic bone exostoses, Protuberances at ends of long bones, Coxa vara, Genu val... OMIM:133700
Cerebrofaciothoracic Dysplasia
Short neck, Rib fusion, Hemivertebrae, Vertebral segmentation defect, Narrow chest, Bifid ribs, S... ORPHA:1394
Metatropic Dysplasia
Abnormal intervertebral disk morphology, Camptodactyly of finger, Abnormal enchondral ossificatio... ORPHA:2635
Congenital Vertical Talus
Rocker bottom foot, Equinus calcaneus, Lower extremity joint dislocation, Myelomeningocele, Achil... ORPHA:178382
Klippel-Feil Syndrome 1, Autosomal Dominant
Short neck, Abnormal rib morphology, Scoliosis, Cervical C2/C3 vertebral fusion, Sprengel anomaly... OMIM:118100
Heart Defects-Limb Shortening Syndrome
Death in infancy, Accelerated skeletal maturation, Kyphosis, Abnormal rib morphology, Abnormal fo... ORPHA:1354
Isolated Hemihyperplasia
Myelomeningocele, Asymmetry of the thorax, Scoliosis ORPHA:2128
Thrombocytopenia-Absent Radius Syndrome
Finger syndactyly, Tibial torsion, Aplasia/Hypoplasia of the patella, Absent radius, Aplasia/hypo... ORPHA:3320
Kyphomelic Dysplasia
Bowing of the long bones, Anterior rib cupping, Missing ribs, Lateral clavicle hook, Joint stiffn... ORPHA:1801
Cardioneuromyopathy With Hyaline Masses And Nemaline Rods
Fusion of midcervical facet joints, Widening of cervical spinal canal, Cervical vertebral bodies ... OMIM:606842
Frontometaphyseal Dysplasia 1
Limited elbow movement, Knee flexion contracture, Increased density of long bone diaphyses, Wrist... OMIM:305620
Metatropic Dysplasia
Abnormal metaphyseal vascular invasion, Enlarged joints, Flexion contracture, Long coccyx, Halber... OMIM:156530
Intellectual Disability-Facial Dysmorphism-Hand Anomalies Syndrome
Brachydactyly, Bifid distal phalanx of the thumb, Triangular shaped distal phalanx of the thumb, ... ORPHA:370010
Thoracic Dysostosis, Isolated
Pectus excavatum, Short ribs, Bell-shaped thorax OMIM:187750
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 3
Death in infancy, Sacral dimple, Vertebral fusion, Short thorax, Vertebral segmentation defect, S... OMIM:618845
Hypo- And Hypermelanotic Cutaneous Macules-Retarded Growth-Intellectual Disability Syndrome
Abnormal rib morphology ORPHA:2435
Thoracomelic Dysplasia
Bell-shaped thorax, Short ribs OMIM:273740
Multiple Pterygium Syndrome, Escobar Variant
Multiple joint contractures, Short neck, Flexion contracture, Knee flexion contracture, Intercrur... OMIM:265000
Ehlers-Danlos Syndrome, Classic-Like, 2
Osteopenia, Hallux valgus, Thoracic scoliosis, Short neck, Osteoarthritis, Generalized joint laxi... OMIM:618000
Mesomelic Dysplasia, Kantaputra Type
Camptodactyly of finger, Tarsal synostosis, Abnormality of the humerus, Abnormal rib morphology, ... ORPHA:1836
Wildervanck Syndrome
Fused cervical vertebrae OMIM:314600
Anencephaly 1
Anencephaly, Spina bifida OMIM:206500
Spina Bifida-Hypospadias Syndrome
Spina bifida, Spinal dysraphism ORPHA:3176
Chromosome 8Q22.1 Duplication Syndrome
Hallux valgus, Enlarged interphalangeal joints, Short metacarpal, Genu recurvatum, Interphalangea... OMIM:151200
Fibrodysplasia Ossificans Progressiva
Hallux valgus, Small cervical vertebral bodies, Progressive cervical vertebral spine fusion, Ecto... OMIM:135100
Aicardi Syndrome
Block vertebrae, Spina bifida, Missing ribs, Proximal placement of thumb, Rib fusion, Hemivertebr... OMIM:304050
Microcephaly With Cervical Spine Fusion Anomalies
Vertebral fusion, Spinal instability OMIM:251250
Humero-Radial Synostosis
Aplasia/Hypoplasia of the thumb, Tarsal synostosis, Elbow dislocation, Meningocele, Limitation of... ORPHA:3265
Craniofacial Dysmorphism, Skeletal Anomalies, And Impaired Intellectual Development Syndrome 1
Beaking of vertebral bodies, Hyperextensibility of the finger joints, Vertebral fusion, Sacral di... OMIM:213980
Endosteal Hyperostosis, Worth Type
Sclerotic vertebral body, Generalized osteosclerosis, Abnormal rib morphology, Abnormal form of t... ORPHA:2790
Thoracolaryngopelvic Dysplasia
Metaphyseal widening, Irregular chondrocostal junctions, Bell-shaped thorax, Irregular vertebral ... OMIM:187760
Multiple Synostoses Syndrome 2
Vertebral fusion, Tarsal synostosis, Humeroradial synostosis, Finger symphalangism, Proximal symp... OMIM:610017
Spondylocostal Dysostosis With Anal Atresia And Urogenital Anomalies
Vertebral fusion, Block vertebrae, Short neck, Missing ribs, Rib fusion, Hemivertebrae, Thin ribs... OMIM:271520
Ulnar Hemimelia
Glenoid fossa hypoplasia, Limited elbow movement, Osteoarthritis, Abnormal calcification of the c... ORPHA:93320
Spondyloepimetaphyseal Dysplasia, Irapa Type
Short metacarpal, Osteoarthritis, Limitation of joint mobility, Abnormal rib morphology, Abnormal... ORPHA:93351
Chronic Recurrent Multifocal Osteomyelitis 2, With Periostitis And Pustulosis
Osteopenia, Osteomyelitis, Osteolysis, Fused cervical vertebrae, Joint swelling, Flaring of rib c... OMIM:612852
Ring Chromosome 21 Syndrome
Fused thoracic vertebrae, Syndactyly, Abnormal thorax morphology, Small hand, Holoprosencephaly, ... ORPHA:1445
Lamb-Shaffer Syndrome
Fused cervical vertebrae, Hip dysplasia, Thoracic kyphosis, Scoliosis ORPHA:530983
Vertebral, Cardiac, Tracheoesophageal, Renal, And Limb Defects
Pectus excavatum, Fused cervical vertebrae, Sprengel anomaly, Spina bifida occulta, Butterfly ver... OMIM:619227
Spondylometaphyseal Dysplasia, A4 Type
Limitation of joint mobility, Coxa vara, Platyspondyly, Flared, irregular rib ends, Short palm ORPHA:168555
Posterior Fusion Of Lumbosacral Vertebrae-Blepharoptosis Syndrome
Sacral dimple, Tarsal synostosis, Joint stiffness, Abnormal form of the vertebral bodies, Posteri... ORPHA:2064
Familial Congenital Mirror Movements
Fused cervical vertebrae ORPHA:238722
Vertebral Fusion, Posterior Lumbosacral, With Blepharoptosis
Posterior fusion of lumbosacral vertebrae OMIM:192800
Frontometaphyseal Dysplasia
Limited elbow movement, Metaphyseal widening, Short metatarsal, Spina bifida occulta, Short phala... ORPHA:1826
Osteogenesis Imperfecta, Type Ix
Recurrent fractures, Beaded ribs, Pectus excavatum, Kyphosis, Multiple prenatal fractures, Pectus... OMIM:259440
Brachydactyly, Type B1
Type B brachydactyly, Vertebral fusion, Syndactyly, Hypoplastic sacrum, Thoracolumbar scoliosis, ... OMIM:113000
Stapes Ankylosis With Broad Thumbs And Toes
Toe syndactyly, Broad hallux, Proximal/middle symphalangism of 5th finger, Fused cervical vertebr... OMIM:184460
Klippel-Feil Syndrome 4, Autosomal Recessive, With Nemaline Myopathy And Facial Dysmorphism
Thoracolumbar scoliosis, Short neck, Flexion contracture, Cervical C2/C3 vertebral fusion, Acetab... OMIM:616549
Aicardi Syndrome
Block vertebrae, Missing ribs, Rib fusion, Small hand, Hip dysplasia, Supernumerary ribs, Scolios... ORPHA:50
Thoraco-Abdominal Enteric Duplication
Meningocele, Camptodactyly of finger, Missing ribs ORPHA:1759
Spondyloepimetaphyseal Dysplasia, Irapa Type
Metaphyseal dysplasia, Short metacarpal, Lumbar hyperlordosis, Hypoplastic sacrum, Capitate-hamat... OMIM:271650
Neural Tube Defects, Susceptibility To
Absence of the sacrum, Sacral dimple, Asymmetry of spinal facet joints, Hydrocephalus, Myelomenin... OMIM:182940
Metaphyseal Chondrodysplasia, Schmid Type
Broad proximal phalanges of the hand, Short tubular bones of the hand, Bowing of the legs, Proxim... ORPHA:174
Autosomal Recessive Multiple Pterygium Syndrome
Finger syndactyly, Camptodactyly of finger, Multiple pterygia, Pectus excavatum, Limitation of jo... ORPHA:2990
Spondylomegaepiphyseal Dysplasia With Upper Limb Mesomelia, Punctate Calcifications, And Deafness
Broad toe, Lumbar hyperlordosis, Enlarged metacarpal epiphyses, Cupped ribs, Enlarged epiphyses o... OMIM:609616
Congenital Disorder Of Glycosylation, Type Iig
Osteopenia, Thoracic scoliosis, Kyphoscoliosis, Short neck, Broad femoral neck, Squared iliac bon... OMIM:611209
Thrombocytopenia-Absent Radius Syndrome
Lateral clavicle hook, Femoral bowing, Abnormal shoulder morphology, Phocomelia, Clinodactyly of ... OMIM:274000
Fetal Akinesia Deformation Sequence 4
11 pairs of ribs, Rocker bottom foot, Short neck, Kyphosis, Prenatal death, Camptodactyly, Neonat... OMIM:618393
Contractures, Pterygia, And Spondylocarpotarsal Fusion Syndrome 1A
Elbow contracture, Multiple pterygia, Short neck, Hemivertebrae, Pectus carinatum, Knee flexion c... OMIM:178110
White Forelock With Malformations
Finger syndactyly, Delayed skeletal maturation, Abnormal rib morphology, Joint hyperflexibility, ... ORPHA:2475
Spondyloepimetaphyseal Dysplasia, Borochowitz-Cormier-Daire Type
Dysplastic iliac wing, Lumbar hyperlordosis, Ovoid vertebral bodies, Metaphyseal spurs, Bowing of... OMIM:608728
Stuve-Wiedemann Syndrome 2
Bowing of the long bones, Death in adolescence, Short long bone, Stillbirth, Scoliosis, Camptodac... OMIM:619751
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 2
Congenital hip dislocation, Irregular vertebral endplates, Posterior scalloping of vertebral bodi... OMIM:603546
Nevus Comedonicus Syndrome
Finger syndactyly, Toe syndactyly, Spina bifida, Preaxial polydactyly, Scoliosis, Spina bifida oc... ORPHA:64754
Joubert Syndrome 15
Preaxial polydactyly, Exencephaly OMIM:614464
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome
Thoracic scoliosis, Short neck, Generalized joint laxity, Thoracic kyphosis, Hypermobility of int... ORPHA:508498
Jeune Syndrome
Abnormal clavicle morphology, Toe syndactyly, Postaxial hand polydactyly, Short thorax, Abnormal ... ORPHA:474
Axial Spondylometaphyseal Dysplasia
Osteopenia, Aplasia/Hypoplasia of the vertebrae, Thoracic scoliosis, Proximal femoral metaphyseal... ORPHA:168549
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 3
Joint laxity, Hypoplasia of the ulna, Short neck, Tapered finger, Multiple joint dislocation, Hip... OMIM:618395
Robinow Syndrome, Autosomal Recessive 1
Short neck, Hemivertebrae, Short palm, Thoracic hemivertebrae, Duplication of the distal phalanx ... OMIM:268310
Pelvis-Shoulder Dysplasia
Aplasia/Hypoplasia of the scapulae, Aplasia/Hypoplasia of the fibula, Prominent protruding coccyx... ORPHA:2839
Spondylometaphyseal Dysplasia, Kozlowski Type
Enlarged joints, Irregular, rachitic-like metaphyses, Short neck, Coxa vara, Pectus carinatum, Ha... OMIM:184252
Schneckenbecken Dysplasia
Hypoplastic scapulae, Anterior rib cupping, Ovoid vertebral bodies, Short neck, Lateral clavicle ... OMIM:269250
Hemihyperplasia, Isolated
Myelomeningocele, Scoliosis OMIM:235000
Duane-Radial Ray Syndrome
Syndactyly, Hypoplasia of the ulna, Short humerus, Sandal gap, Absent thumb, Absent radius, Short... OMIM:607323
Fibrochondrogenesis 2
Hypoplastic ischia, Hypoplastic ilia, Cupped ribs, Metaphyseal widening, Hypoplastic pubic bone, ... OMIM:614524
Thanatophoric Dysplasia, Type Ii
Small abnormally formed scapulae, Hypoplastic ilia, Wide-cupped costochondral junctions, Flared m... OMIM:187601
Phaver Syndrome
Broad hallux phalanx, Camptodactyly of finger, Joint stiffness, Short thumb, Myelomeningocele, Ab... ORPHA:2876
Craniorachischisis
Cervical spina bifida, Myelomeningocele, Anencephaly, Sirenomelia, Spinal dysraphism, Bifid sternum ORPHA:63260
Pseudoachondroplasia
Genu recurvatum, Limited hip extension, Spatulate ribs, Delayed epiphyseal ossification, Osteoart... OMIM:177170
Intellectual Developmental Disorder, Autosomal Dominant 52
Scapular winging, Lumbar hyperlordosis, Pectus carinatum, Lumbar scoliosis, Cervical C2/C3 verteb... OMIM:617796
Short-Rib Thoracic Dysplasia 11 With Or Without Polydactyly
Postaxial polydactyly, Lateral clavicle hook, Bell-shaped thorax, Short long bone, Thoracic dyspl... OMIM:615633
Otopalatodigital Syndrome Type 1
Increased bone mineral density, Bowing of the long bones, Sandal gap, Proximal placement of thumb... ORPHA:90650
Hypogonadism, Male, With Mental Retardation And Skeletal Anomalies
Superior rib anomalies, Abnormality of the cervical spine OMIM:307500
Fibular Hemimelia
Bowing of the legs, Tibial bowing, Increased laxity of ankles, Foot oligodactyly, Abnormal bone o... ORPHA:93323
Lung Agenesis-Heart Defect-Thumb Anomalies Syndrome
Death in infancy, Proximal placement of thumb, Spina bifida, Abnormal thumb morphology, Short thu... ORPHA:1120
Arnold-Chiari Malformation Type I
Stiff neck, Myelopathy, Fused cervical vertebrae, Scoliosis, Cervical C2/C3 vertebral fusion, Ant... ORPHA:268882
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia
11 pairs of ribs, Hydrocephalus, Metaphyseal cupping of proximal phalanges, Thin ribs, Metaphysea... OMIM:300863
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
Spondyloepimetaphyseal Dysplasia, Missouri Type
Radial bowing, Irregular sclerotic endplates, Delayed skeletal maturation, Osteoarthritis, Ulnar ... OMIM:602111
Thanatophoric Dysplasia, Type I
Bowing of the long bones, Small abnormally formed scapulae, Short neck, Hypoplastic ilia, Wide-cu... OMIM:187600
Apert Syndrome
Limited elbow movement, Delayed epiphyseal ossification, Pectus carinatum, Cutaneous finger synda... OMIM:101200
Grant Syndrome
Joint dislocation, Bowing of the long bones, Abnormal rib morphology, Decreased skull ossificatio... ORPHA:2097
Kbg Syndrome
Vertebral fusion, Persistent open anterior fontanelle, Short neck, Delayed skeletal maturation, C... ORPHA:2332
Phocomelia-Ectrodactyly, Ear Malformation, Deafness, And Sinus Arrhythmia
Aplasia/Hypoplasia of the thumb, Short humerus, Long clavicles, Lateral clavicle hook, Elbow disl... OMIM:171480
Developmental And Speech Delay Due To Sox5 Deficiency
Thoracic kyphoscoliosis, Vertebral fusion, Lumbar hyperlordosis, 2-3 toe syndactyly, Pectus carin... ORPHA:313892
Intellectual Developmental Disorder With Dysmorphic Facies And Ptosis
Cervical C2/C3 vertebral fusion, Joint hypermobility, Camptodactyly OMIM:617333
Spondylometaphyseal Dysplasia, 'Corner Fracture' Type
Short neck, Clinodactyly, Coxa vara, Reduced bone mineral density, Pectus carinatum, Tibial bowin... ORPHA:93315
Spondylometaphyseal Dysplasia With Cone-Rod Dystrophy
Short metacarpal, Ovoid vertebral bodies, Joint stiffness, Cupped ribs, Metaphyseal widening, Cox... OMIM:608940
Diastrophic Dysplasia
Joint dislocation, Abnormal clavicle morphology, Proximal placement of thumb, Abnormal form of th... ORPHA:628
Mucopolysaccharidosis, Type Iva
Short neck, Epiphyseal deformities of tubular bones, Metaphyseal widening, Pectus carinatum, Flar... OMIM:253000
Camptodactyly With Muscular Hypoplasia, Skeletal Dysplasia, And Abnormal Palmar Creases
Joint contracture of the hand, Spina bifida, Camptodactyly OMIM:211960
Multiple Pterygium Syndrome, X-Linked
Joint dislocation, Vertebral fusion, Abnormal cervical curvature, Multiple pterygia, Flexion cont... OMIM:312150
Pontine Tegmental Cap Dysplasia
Ankle clonus, Rib fusion, Hemivertebrae, Scoliosis OMIM:614688
Holt-Oram Syndrome
Abnormal clavicle morphology, Finger syndactyly, Down-sloping shoulders, Joint stiffness, Pectus ... ORPHA:392
Sifrim-Hitz-Weiss Syndrome
Tapered finger, Flat acetabular roof, Fused cervical vertebrae, Short clavicles, Short femoral ne... OMIM:617159
Spondyloepimetaphyseal Dysplasia, Strudwick Type
Brachydactyly, Club-shaped proximal femur, Anterior rib cupping, Hyperlordosis, Hypoplasia of the... OMIM:184250
Mosaic Trisomy 20
Vertebral fusion, Down-sloping shoulders, Kyphosis, Spinal canal stenosis, Fused cervical vertebr... ORPHA:1724
Kbg Syndrome
Vertebral fusion, Syndactyly, Short neck, Delayed skeletal maturation, Rib fusion, Vertebral arch... OMIM:148050
Pallister-Hall Syndrome
Syndactyly, Mesoaxial foot polydactyly, Toe syndactyly, Mesoaxial hand polydactyly, Radial head s... OMIM:146510
Camptodactyly Syndrome, Guadalajara Type 1
Hallux valgus, Scapular winging, Sacral dimple, Toe syndactyly, Camptodactyly of finger, Spina bi... ORPHA:1327
Caudal Duplication
Spina bifida, Myelomeningocele, Abnormal sacrum morphology, Bifid sacrum, Vertebral segmentation ... ORPHA:1756
Frontal Encephalocele
Encephalocele, Hydrocephalus, Spina bifida ORPHA:1931
Acalvaria
Hydrocephalus, Holoprosencephaly, Spina bifida, Postaxial hand polydactyly ORPHA:945
Aarskog-Scott Syndrome
Finger syndactyly, Genu recurvatum, Camptodactyly of finger, Short neck, Pectus excavatum, Small ... ORPHA:915
Craniodiaphyseal Dysplasia
Abnormal rib morphology, Diaphyseal thickening ORPHA:1513
Autosomal Recessive Robinow Syndrome
Short neck, Pectus carinatum, Vertebral segmentation defect, Clinodactyly of the 5th finger, Syno... ORPHA:1507
Multiple Pterygium Syndrome, Lethal Type
Joint dislocation, Vertebral fusion, Abnormal cervical curvature, Multiple pterygia, Flexion cont... OMIM:253290
Septopreoptic Holoprosencephaly
Abnormal rib morphology, Abnormal vertebral morphology, Ethmoidal encephalocele ORPHA:280195
Otopalatodigital Syndrome Type 2
Preaxial polydactyly, Narrow chest, Short palm, Abnormal vertebral segmentation and fusion, Synos... ORPHA:90652
Hydrocephalus-Costovertebral Dysplasia-Sprengel Anomaly Syndrome
Sandal gap, Hydrocephalus, Abnormal rib morphology, Hemivertebrae, Abnormal form of the vertebral... ORPHA:2180
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome
Abnormal clavicle morphology, Bowing of the long bones, Proximal placement of thumb, Short neck, ... ORPHA:93267
Platyspondylic Lethal Skeletal Dysplasia, Torrance Type
Short neck, Narrow chest, Radial bowing, Dumbbell-shaped long bone, Flat acetabular roof, Decreas... OMIM:151210
Osteogenesis Imperfecta, Type Xv
Recurrent fractures, Thin ribs, Platyspondyly, Bowing of limbs due to multiple fractures, Scolios... OMIM:615220
Gorlin Syndrome
Vertebral fusion, Arachnodactyly, Hydrocephalus, Hemivertebrae, Vertebral wedging, Scoliosis, Bra... ORPHA:377
Fanconi Anemia, Complementation Group I
Absent thumb, Short neck, Short thumb, Hypoplasia of the radius, Fused cervical vertebrae, Short ... OMIM:609053
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type
Death in infancy, Hypoplastic iliac wing, Metaphyseal chondrodysplasia, Hydrocephalus, Abnormalit... ORPHA:163966
Keratoconus Posticus Circumscriptus
Limited elbow extension and supination, Short neck, Clinodactyly of the 5th finger, Abnormal vert... OMIM:244600
Proximal 16P11.2 Microdeletion Syndrome
Craniosynostosis, Rib fusion, Hand polydactyly, Scoliosis, Abnormal vertebral morphology ORPHA:261197
Femoral-Facial Syndrome
Short third metatarsal, Short humerus, Short fourth metatarsal, Toe syndactyly, Short fifth metat... OMIM:134780
Dyggve-Melchior-Clausen Disease
Glenoid fossa hypoplasia, Short neck, Coxa vara, Pectus carinatum, Broad ribs, Iliac crest serrat... ORPHA:239
Ophthalmoplegia, External, And Myopia
Spina bifida OMIM:311000
Becker Nevus Syndrome
Pectus excavatum, Cervical ribs, Hemivertebrae, Scoliosis OMIM:604919
Enlarged Parietal Foramina
Occipital encephalocele, Craniosynostosis, Myelomeningocele, Short clavicles, Broad thumb ORPHA:60015
Thin Ribs-Tubular Bones-Dysmorphism Syndrome
Slender long bone, Abnormal pelvic girdle bone morphology, Abnormal rib morphology ORPHA:1506
Verheij Syndrome
Branchial cyst, Vertebral fusion, Joint laxity, Short neck, Hemivertebrae, Hip dislocation, Short... OMIM:615583
Shashi-Pena Syndrome
Short metacarpal, Accelerated skeletal maturation, Kyphosis, Osteoporosis, Scoliosis, Cervical C2... OMIM:617190
Achondrogenesis Type 1B
Short neck, Abnormal enchondral ossification, Short thorax, Abnormal rib morphology, Short foot, ... ORPHA:93298
Dyggve-Melchior-Clausen Disease
Short neck, Metaphyseal widening, Flat glenoid fossa, Short metatarsal, Pectus carinatum, Femoral... OMIM:223800
Fibrochondrogenesis 1
Short neck, Narrow greater sciatic notch, Short palm, Clinodactyly of the 5th finger, Widely pate... OMIM:228520
Growth Delay-Hydrocephaly-Lung Hypoplasia Syndrome
Abnormally ossified vertebrae, Radial bowing, Bowing of the long bones, Aqueductal stenosis, Abno... ORPHA:3035
Osteogenesis Imperfecta, Type Xviii
Joint laxity, Bowing of the long bones, Recurrent fractures, Joint hypermobility, Thin ribs, Femo... OMIM:617952
Juberg-Hayward Syndrome
Toe syndactyly, Short thumb, Abnormality of the elbow, Abnormal rib morphology, Abnormal finger m... ORPHA:2319
Cerebrocostomandibular Syndrome
Death in infancy, Spina bifida, Tracheomalacia, Kyphosis, Myelomeningocele, Meningocele, Posterio... ORPHA:1393
Mayer-Rokitansky-Küster-Hauser Syndrome Type 2
Vertebral segmentation defect, Abnormal rib morphology, Short neck ORPHA:2578
Cole-Carpenter Syndrome
Communicating hydrocephalus, Crumpled long bones, Bowing of the long bones, Recurrent fractures, ... ORPHA:2050
Lethal Congenital Contracture Syndrome Type 1
Recurrent fractures, Short neck, Limitation of joint mobility, Abnormal rib morphology, Abnormali... ORPHA:1486
Dysraphism-Cleft Lip/Palate-Limb Reduction Defects Syndrome
Aplasia/Hypoplasia of the radius, Anencephaly, Spina bifida ORPHA:2476
Microphthalmia, Syndromic 3
Vertebral fusion, Missing ribs, Rib fusion, Hemivertebrae, Supernumerary ribs, Butterfly vertebra... OMIM:206900
Isolated Anencephaly/Exencephaly
Anencephaly ORPHA:1048
Spondylocarpotarsal Synostosis Syndrome
Short neck, Coxa vara, Pectus carinatum, Vertebral segmentation defect, Clinodactyly of the 5th f... OMIM:272460
Larsen Syndrome
Cervical kyphosis, Short metatarsal, Pectus carinatum, Knee dislocation, Spina bifida occulta, Hy... OMIM:150250
Metaphyseal Dysostosis, Impaired Intellectual Development, And Conductive Deafness
Metaphyseal widening, Flat glenoid fossa, Coxa vara, Short palm, Genu varum, Joint laxity, Lumbar... OMIM:250420
Thakker-Donnai Syndrome
Communicating hydrocephalus, Cervical C2/C3 vertebral fusion, Hemivertebrae, Short neck ORPHA:1780
1P36 Deletion Syndrome
11 pairs of ribs, Camptodactyly of finger, Joint stiffness, Kyphosis, Rib fusion, Spinal canal st... ORPHA:1606
Osteogenesis Imperfecta, Type Ii
Crumpled long bones, Broad long bones, Recurrent fractures, Beaded ribs, Multiple prenatal fractu... OMIM:166210
Achondrogenesis Type 1A
Multiple rib fractures, Recurrent fractures, Short neck, Abnormal enchondral ossification, Short ... ORPHA:93299
Mucopolysaccharidosis, Type Ivb
Epiphyseal deformities of tubular bones, Metaphyseal widening, Flaring of rib cage, Joint laxity,... OMIM:253010
Apert Syndrome
Aplasia/Hypoplasia of the thumb, Finger syndactyly, Toe syndactyly, Hydrocephalus, Cervical C5/C6... ORPHA:87
Cooper-Jabs Syndrome
Camptodactyly of finger, Proximal placement of thumb, Missing ribs, Abnormal rib morphology, Redu... ORPHA:1488
Achondrogenesis, Type Ia
Abnormal femoral metaphysis morphology, Beaded ribs, Short neck, Abnormal hand bone ossification,... OMIM:200600
Mucopolysaccharidosis Type 4
Joint dislocation, Bowing of the long bones, Short neck, Hyperlordosis, Kyphosis, Delayed skeleta... ORPHA:582
Male Hypergonadotropic Hypogonadism-Intellectual Disability-Skeletal Anomalies Syndrome
Short neck, Abnormal rib morphology, Hemivertebrae, Abnormal form of the vertebral bodies, Abnorm... ORPHA:2234
Lateral Meningocele Syndrome
Vertebral fusion, Short neck, Pectus excavatum, Kyphosis, Hydrocephalus, Meningocele, Sclerosis o... OMIM:130720
Cardiospondylocarpofacial Syndrome
Joint laxity, Tarsal synostosis, Delayed skeletal maturation, Rib fusion, Cone-shaped epiphysis, ... OMIM:157800
Chromosome 1P36 Deletion Syndrome, Distal
11 pairs of ribs, Camptodactyly of finger, Delayed closure of the anterior fontanelle, Metatarsus... OMIM:607872
Fryns Microphthalmia Syndrome
Neural tube defect, Abnormality of the vertebral column OMIM:600776
Frontometaphyseal Dysplasia 2
Hip contracture, Short metacarpal, Congenital hip dislocation, Elbow contracture, Pectus excavatu... OMIM:617137
3M Syndrome
Congenital hip dislocation, Short neck, Increased vertebral height, Enlarged thorax, Clinodactyly... ORPHA:2616
Nail-Patella Syndrome
Back pain, Lumbar hyperlordosis, Glenoid fossa hypoplasia, Spina bifida, Pectus excavatum, Patell... OMIM:161200
Cog1-Cdg
Osteopenia, Irregularity of vertebral bodies, Kyphoscoliosis, Short neck, Coxa valga, Rib fusion,... ORPHA:263508
Spondylometaphyseal Dysplasia, Algerian Type
Metaphyseal dysplasia, Lumbar hyperlordosis, Bowed humerus, Anterior rib cupping, Kyphoscoliosis,... OMIM:184253
Acrocapitofemoral Dysplasia
Short proximal phalanx of thumb, Coxa vara, Pectus carinatum, Narrow chest, Short palm, Hypoplast... OMIM:607778
Postaxial Polydactyly-Dental And Vertebral Anomalies Syndrome
Vertebral fusion, Elbow dislocation, Kyphosis, Postaxial hand polydactyly, Hemivertebrae, Abnorma... ORPHA:2916
Muscular Dystrophy-Dystroglycanopathy (Congenital With Or Without Impaired Intellectual Development), Type B, 5
Vertebral fusion, Elbow contracture, Hyperlordosis, Kyphosis, Achilles tendon contracture, Scoliosis OMIM:606612
Baller-Gerold Syndrome
Limited elbow movement, Patellar hypoplasia, Spina bifida occulta, Abnormal vertebral morphology,... OMIM:218600
Global Developmental Delay-Alopecia-Macrocephaly-Facial Dysmorphism-Structural Brain Anomalies Syndrome
Sacral dimple, Tapered toe, Tapered finger, Rib fusion, Clinodactyly of the 5th finger ORPHA:544488
Spondyloepimetaphyseal Dysplasia, X-Linked, With Hypomyelinating Leukodystrophy
Short neck, Metaphyseal widening, Flexion contracture, Coxa vara, Metaphyseal cupping of metacarp... OMIM:300232
Lymphangiectasia, Intestinal
Stillbirth, Prominent floating ribs OMIM:152800
Mosaic Trisomy 14
Camptodactyly of finger, Abnormal rib morphology, Narrow chest, Short neck ORPHA:1703
Microcephalic Primordial Dwarfism, Toriello Type
Delayed skeletal maturation, Abnormal rib morphology, Abnormal epiphysis morphology, Brachydactyly ORPHA:2643
Melnick-Needles Syndrome
Bowing of the long bones, Delayed cranial suture closure, Coxa valga, Short thorax, Abnormal rib ... ORPHA:2484
Greenberg Dysplasia
Beaded ribs, Multiple prenatal fractures, Patchy variation in bone mineral density, Tetraphocomel... OMIM:215140
Wolf-Hirschhorn Syndrome
Rib segmentation abnormalities, Hypoplastic pubic ramus, Sacral dimple, Arachnodactyly, Short hal... ORPHA:280
Fountain Syndrome
Metaphyseal dysplasia, Brachydactyly, Coarse metaphyseal trabecularization, Spina bifida, Pectus ... ORPHA:3219
Achondrogenesis, Type Ii
Barrel-shaped chest, Absent vertebral body mineralization, Broad long bones, Short tubular bones ... OMIM:200610
Osteogenesis Imperfecta, Type Xvi
Osteopenia, Multiple rib fractures, Angulated humerus, Bowing of the long bones, Recurrent fractu... OMIM:616229
Cole-Carpenter Syndrome 2
Osteopenia, Wide cranial sutures, Recurrent fractures, Pectus excavatum, Kyphosis, Hydrocephalus,... OMIM:616294
Caudal Regression Syndrome
Joint stiffness, Missing ribs, Aplasia/Hypoplasia of the sacrum, Abnormal iliac wing morphology, ... ORPHA:3027
Intellectual Disability-Polydactyly-Uncombable Hair Syndrome
Broad hallux phalanx, Toe syndactyly, Short neck, Metatarsus valgus, Kyphosis, Postaxial hand pol... ORPHA:3082
Poland Syndrome
Aplasia/Hypoplasia of the thumb, Short neck, Hemivertebrae, Pectus carinatum, Reduced bone minera... ORPHA:2911
Hypophosphatasia
Bowing of the long bones, Recurrent fractures, Craniosynostosis, Abnormal rib morphology, Narrow ... ORPHA:436
Cleidocranial Dysplasia
Coxa vara, Narrow chest, Hypoplastic inferior ilia, Clinodactyly of the 5th finger, Decreased sku... ORPHA:1452
Wolf-Hirschhorn Syndrome
Rib segmentation abnormalities, Vertebral fusion, Sacral dimple, Pseudoepiphyses of the metacarpa... OMIM:194190
Robinow Syndrome
Fused thoracic vertebrae, Syndactyly, Brachydactyly, Kyphoscoliosis, Missing ribs, Bifid distal p... ORPHA:97360
Imperforate Oropharynx-Costovertebral Anomalies Syndrome
Arachnodactyly, Missing ribs, Abnormal rib morphology, Hemivertebrae, Abnormal form of the verteb... ORPHA:2759
Autosomal Recessive Kenny-Caffey Syndrome
Stenosis of the medullary cavity of the long bones, Thin clavicles, Delayed skeletal maturation, ... ORPHA:93324
Fibrochondrogenesis
Hypoplastic scapulae, Camptodactyly of finger, Short neck, Abnormal rib morphology, Abnormal form... ORPHA:2021
Osteogenesis Imperfecta, Type Iii
Protrusio acetabuli, Recurrent fractures, Severe generalized osteoporosis, Multiple prenatal frac... OMIM:259420
Gracile Bone Dysplasia
Death in infancy, Hydrocephalus, Flared metaphysis, Thin ribs, Slender long bone, Decreased skull... OMIM:602361
Dysosteosclerosis
Osteopenia, Sclerosis of hand bone, Increased intervertebral space, Hypoplastic vertebral bodies,... OMIM:224300
Meckel Syndrome, Type 2
Encephalocele, Bowing of the long bones, Postaxial hand polydactyly, Meningocele, Anencephaly, Po... OMIM:603194
10Q22.3Q23.3 Microduplication Syndrome
Abnormal clavicle morphology, Abnormal rib morphology ORPHA:276422
Subependymal Nodular Heterotopia
Occipital encephalocele, Myelomeningocele, Meningocele, Nasofrontal encephalocele ORPHA:101030
Chromosome 16P13.3 Duplication Syndrome
Sacral dimple, Sandal gap, Rocker bottom foot, Proximal placement of thumb, Short neck, Pectus ex... OMIM:613458
Rhizomelic Skeletal Dysplasia With Or Without Pelger-Huet Anomaly
Joint dislocation, Knee flexion contracture, Femoral bowing, Short 5th metacarpal, Radial bowing,... OMIM:618019
Vitamin K Antagonist Embryofetopathy
Brachydactyly, Short neck, Myelomeningocele, Hydrocephalus, Punctate vertebral calcifications, Ep... ORPHA:1914
Anophthalmia Plus Syndrome
Deviation of finger, Vertebral segmentation defect, Spina bifida ORPHA:1104
Lethal Congenital Contracture Syndrome 1
Neonatal death, Arthrogryposis multiplex congenita, Abnormal thorax morphology, Widening of cervi... OMIM:253310
Congenital Osteogenesis Imperfecta-Microcephaly-Cataracts Syndrome
Joint hyperflexibility, Decreased calvarial ossification, Abnormal rib morphology, Recurrent frac... ORPHA:2772
Dyssegmental Dysplasia, Silverman-Handmaker Type
Occipital encephalocele, Bowing of the long bones, Anisospondyly, Short long bone, Neonatal death... OMIM:224410
Czeizel-Losonci Syndrome
Hitchhiker thumb, Thoracolumbar scoliosis, Spina bifida, Myelomeningocele, Hydrocephalus, 2-3 fin... ORPHA:2437
Osteogenesis Imperfecta, Type X
Osteopenia, Multiple rib fractures, Thoracic scoliosis, Joint laxity, Short femur, Bowing of the ... OMIM:613848
Mucopolysaccharidosis, Type Iiia
Thickened ribs, Joint stiffness, Ovoid thoracolumbar vertebrae, Scoliosis, Umbilical hernia, Dens... OMIM:252900
Hypertelorism-Hypospadias-Polysyndactyly Syndrome
Encephalocele, Finger syndactyly, Sacral dimple, Broad hallux phalanx, Preaxial hand polydactyly,... ORPHA:2211
Kenny-Caffey Syndrome, Type 1
Long clavicles, Delayed closure of the anterior fontanelle, Thin clavicles, Delayed skeletal matu... OMIM:244460
Cenani-Lenz Syndrome
Hypoplasia of the ulna, Finger syndactyly, Toe syndactyly, Elbow dislocation, Short thumb, Hypopl... ORPHA:3258
Cartilage-Hair Hypoplasia
Short neck, Accelerated skeletal maturation, Metaphyseal chondrodysplasia, Abnormal form of the v... ORPHA:175
Osteogenesis Imperfecta, Type Viii
Barrel-shaped chest, Osteopenia, Joint laxity, Short metacarpal, Radial bowing, Recurrent fractur... OMIM:610915
Cat-Eye Syndrome
Hip dysplasia, Abnormal rib morphology ORPHA:195
Mucopolysaccharidosis, Type X
Irregular acetabular roof, Spatulate ribs, Hyperlordosis, Broad clavicles, Genu valgum, Platyspon... OMIM:619698
Meckel Syndrome, Type 4
Encephalocele, Bowing of the long bones, Hydrocephalus, Meningocele, Anencephaly, Postaxial hand ... OMIM:611134
Schisis Association
Encephalocele, Anencephaly, Spina bifida ORPHA:63862
Thoracic Outlet Syndrome
Abnormal rib morphology ORPHA:97330
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome
Long clavicles, Arachnodactyly, Overlapping toe, Contracture of the distal interphalangeal joint ... ORPHA:83617
Axial Mesodermal Dysplasia Spectrum
Abnormality of the knee, Short neck, Missing ribs, Hydrocephalus, Abnormal rib morphology, Abnorm... ORPHA:1834
Cantú Syndrome
Finger syndactyly, Broad hallux phalanx, Ovoid vertebral bodies, Short hallux, Accelerated skelet... ORPHA:1517
Triploidy
Finger syndactyly, Short neck, Hydrocephalus, Meningocele, Holoprosencephaly, Narrow chest, Decre... ORPHA:3376
Lateral Meningocele Syndrome
Prominent metopic ridge, Short neck, Pectus excavatum, Hyperlordosis, Kyphosis, Meningocele, Abno... ORPHA:2789
Zttk Syndrome
Craniosynostosis, Kyphosis, Flexion contracture, Rib fusion, Hemivertebrae, Small hand, Short foo... OMIM:617140
Acro-Renal-Mandibular Syndrome
Abnormal clavicle morphology, Hypoplasia of the ulna, Hypoplastic scapulae, Finger syndactyly, Sh... ORPHA:958
Microcephaly-Micromelia Syndrome
Craniosynostosis, Short neck, Aqueductal stenosis, Missing ribs, Absent thumb, Humeroradial synos... OMIM:251230
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 5
Vertebral fusion, Hyperlordosis, Kyphosis, Achilles tendon contracture, Scoliosis OMIM:607155
Sacral Defect With Anterior Meningocele
Back pain, Myeloschisis, Absence of the sacrum, Hemisacrum, Myelomeningocele, Meningocele, Hydroc... OMIM:600145
Alkaptonuria
Arthropathy, Vertebral fusion, Low back pain, Kyphosis, Limited shoulder movement, Arthritis, Lim... OMIM:203500
Ulna And Fibula, Absence Of, With Severe Limb Deficiency
Short neck, Hemivertebrae, Pectus carinatum, Femoral bowing, Foot oligodactyly, Aplasia/Hypoplasi... OMIM:276820
Campomelic Dysplasia
Thoracic scoliosis, Cervical kyphosis, Anterior tibial bowing, Delayed epiphyseal ossification, P... OMIM:114290
Aminopterin/Methotrexate Embryofetopathy
Encephalocele, Aplasia/Hypoplasia of the thumb, Finger syndactyly, Hydrocephalus, Meningocele, An... ORPHA:1908
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly
Syndactyly, Thoracic hypoplasia, Postaxial polydactyly, Lateral clavicle hook, Hypoplastic ilia, ... OMIM:617895
Bent Bone Dysplasia Syndrome 2
Osteopenia, Bowed humerus, Short neck, Short tibia, Ulnar bowing, Thin ribs, Femoral bowing, Coro... OMIM:620076
Spondyloepimetaphyseal Dysplasia, X-Linked
Anterior wedging of T12, Pectus carinatum, Long fibula, Short palm, Short phalanx of finger, Broa... OMIM:300106
Antley-Bixler Syndrome
Arachnodactyly, Recurrent fractures, Craniosynostosis, Joint stiffness, Camptodactyly of finger, ... ORPHA:83
Craniosynostosis, Herrmann-Opitz Type
Finger syndactyly, Craniosynostosis, Split hand, Abnormal rib morphology, Brachydactyly ORPHA:2145
Mucopolysaccharidosis, Type Vi
Metaphyseal widening, Flexion contracture, Pectus carinatum, Hypoplastic iliac wing, Broad ribs, ... OMIM:253200
Sirenomelia
Absence of the sacrum, Aplasia/Hypoplasia of the radius, Spina bifida, Sirenomelia ORPHA:3169
Kyphomelic Dysplasia
Short humerus, Short metacarpal, Radial bowing, Short femur, Anterior rib cupping, Bowed humerus,... OMIM:211350
Otopalatodigital Syndrome, Type Ii
Congenital hip dislocation, Elbow contracture, Short neck, Short metatarsal, Femoral bowing, Tibi... OMIM:304120
X-Linked Hypophosphatemia
Beaded ribs, Bowing of the legs, Generalized osteosclerosis, Bone pain, Trapezoidal distal femora... ORPHA:89936
Chops Syndrome
Tracheomalacia, Cervical C2/C3 vertebral fusion, Brachydactyly OMIM:616368
Chiari Malformation Type Ii
Cervical myelopathy, Myelomeningocele, Hydrocephalus, Spina bifida OMIM:207950
Mucolipidosis Iii Alpha/Beta
Soft tissue swelling of interphalangeal joints, Craniosynostosis, Irregular carpal bones, Split h... OMIM:252600
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy
Occipital encephalocele, Small cervical vertebral bodies, Long clavicles, Abnormal acetabulum mor... ORPHA:397715
Koolen-De Vries Syndrome
Vertebral fusion, Arachnodactyly, Pectus excavatum, Kyphosis, Hip dislocation, Joint hyperflexibi... ORPHA:96169
Mullerian Duct Aplasia, Unilateral Renal Agenesis, And Cervicothoracic Somite Anomalies
Sprengel anomaly, Abnormality of the vertebral column, Abnormal rib morphology OMIM:601076
Renpenning Syndrome
Joint stiffness, Pectus excavatum, Abnormal thumb morphology, Abnormal rib morphology, Clinodacty... ORPHA:3242
Laryngotracheoesophageal Cleft Type 4
Abnormal rib morphology, Abnormal form of the vertebral bodies ORPHA:93941
Isolated Posterior Meningocele
Thoracic hemivertebrae, Hydrocephalus, Lipomyelomeningocele, Meningocele, Neural tube defect, Occ... ORPHA:268810
Waardenburg Syndrome Type 1
Sprengel anomaly, Meningocele, Scoliosis, Spina bifida ORPHA:894
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 1, With Or Without Fractures
Short neck, Delayed proximal femoral epiphyseal ossification, Flexion contracture, Metaphyseal wi... OMIM:271640
Lethal Congenital Contracture Syndrome 5
Death in infancy, Congenital contracture, Flexion contracture, Thin ribs OMIM:615368
Waardenburg Syndrome, Type 1
Spina bifida, Myelomeningocele, Supernumerary ribs, Supernumerary vertebrae, Sprengel anomaly OMIM:193500
Craniometadiaphyseal Dysplasia, Wormian Bone Type
Osteopenia, Increased bone mineral density, Short tubular bones of the hand, Coxa valga, Vertebra... ORPHA:85184
Arthrogryposis, Cleft Palate, Craniosynostosis, And Impaired Intellectual Development
Craniosynostosis, Thin ribs, Slender long bone, Decreased calvarial ossification, Arthrogryposis ... OMIM:618265
Amish Lethal Microcephaly
Death in infancy, Spina bifida, Limitation of joint mobility, Osteoporosis, Decreased skull ossif... ORPHA:99742
Faciodigitogenital Syndrome, Autosomal Recessive
Vertebral fusion, Syndactyly, Down-sloping shoulders, Pectus excavatum, Metatarsus adductus, Hype... OMIM:227330
Spondylometaphyseal Dysplasia, Sedaghatian Type
Short neck, Delayed epiphyseal ossification, Long fibula, Narrow chest, Narrow greater sciatic no... OMIM:250220
Intellectual Disability-Myopathy-Short Stature-Endocrine Defect Syndrome
Hyperlordosis, Delayed skeletal maturation, Limitation of joint mobility, Abnormal rib morphology... ORPHA:3068
Pallister-Hall Syndrome
Hemivertebrae, Holoprosencephaly, Mesoaxial polydactyly, Radial bowing, Rib fusion, Umbilical her... ORPHA:672
Chromosome 17P13.1 Deletion Syndrome
Joint laxity, Hallux valgus, Sacral dimple, Arachnodactyly, Broad hallux, Spina bifida, Short nec... OMIM:613776
Limb Body Wall Complex
Encephalocele, Thoracoabdominal wall defect, Broad hallux, Aplasia/hypoplasia involving bones of ... ORPHA:2369
Oculocerebrocutaneous Syndrome
Finger syndactyly, Congenital hip dislocation, Missing ribs, Aplasia/Hypoplasia of the distal pha... ORPHA:1647
Tibial Hemimelia
Hemivertebrae, Aplasia of the 2nd metacarpal, Aplasia of the 4th metacarpal, Knee flexion contrac... ORPHA:93322
Campomelia, Cumming Type
Death in infancy, Abnormally ossified vertebrae, Bowing of the long bones, Abnormal thorax morpho... ORPHA:1318
Spondylometaphyseal Dysplasia, Sedaghatian Type
Short metacarpal, Abnormal scapula morphology, Iliac crest serration, Accelerated skeletal matura... ORPHA:93317
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome
Ivory epiphyses, Short metacarpal, Bowing of the long bones, Ovoid vertebral bodies, Metaphyseal ... ORPHA:85167
Short-Rib Thoracic Dysplasia 12
Short palm, Hypoplastic scapulae, Short neck, Bowing of the legs, Hydrocephalus, Short thorax, An... OMIM:269860
Trisomy 8Q
Camptodactyly of finger, Joint stiffness, Short neck, Myelomeningocele, Long thorax, Brachydactyly ORPHA:1752
Vacterl/Vater Association
Occipital encephalocele, Finger syndactyly, Abnormal intervertebral disk morphology, Preaxial han... ORPHA:887
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Microdeletion
Joint laxity, Long toe, Overlapping toe, Pectus excavatum, Large placenta, Flexion contracture, P... ORPHA:254528
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly
Encephalocele, Postaxial polydactyly, Unicoronal synostosis, Squared iliac bones, Preaxial polyda... OMIM:616300
Muscle-Eye-Brain Disease
Hydrocephalus, Meningocele, Holoprosencephaly ORPHA:588
Meier-Gorlin Syndrome 1
Genu recurvatum, Lateral clavicle hook, Flat glenoid fossa, Flexion contracture, Hemivertebrae, P... OMIM:224690
Ossification Anomalies-Psychomotor Developmental Delay Syndrome
Abnormal thorax morphology, Metaphyseal widening, Abnormal form of the vertebral bodies, Thin rib... ORPHA:73230
Short-Rib Thoracic Dysplasia 14 With Polydactyly
Aplastic clavicle, Short neck, Postaxial polydactyly, Hydrocephalus, Anencephaly, Preaxial polyda... OMIM:616546
Koolen-De Vries Syndrome
Vertebral fusion, Prominent metopic ridge, Sacral dimple, Pectus excavatum, Kyphosis, Hip disloca... OMIM:610443
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Hypermethylation
Large placenta, Umbilical hernia, Thoracic hypoplasia, Coat hanger sign of ribs ORPHA:254534
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly
Hypoplasia of the ulna, Thoracic hypoplasia, Metaphyseal spurs, Postaxial polydactyly, Lateral cl... OMIM:613091
Hyperparathyroidism, Transient Neonatal
Communicating hydrocephalus, Osteopenia, Wide cranial sutures, Short femur, Recurrent fractures, ... OMIM:618188
Alagille Syndrome
Hypoplasia of the ulna, Delayed skeletal maturation, Abnormal rib morphology, Abnormal form of th... ORPHA:52
Blepharocheilodontic Syndrome 1
Neural tube defect, Clinodactyly, Cutaneous syndactyly OMIM:119580
Holzgreve Syndrome
Abnormally ossified vertebrae, Abnormal morphology of ulna, Joint stiffness, Abnormal rib morphol... ORPHA:2167
Pyknoachondrogenesis
Abnormal intramembranous ossification, Hypoplastic ischia, Short iliac bones, Short thorax, Abnor... ORPHA:3003
Hurler Syndrome
Abnormal clavicle morphology, Death in infancy, Camptodactyly of finger, Short neck, Hydrocephalu... ORPHA:93473
Camptodactyly Syndrome, Guadalajara Type 3
Osteopenia, Short neck, Delayed skeletal maturation, Abnormal rib morphology, Small hand, Short f... ORPHA:488434
Ellis-Van Creveld Syndrome
Hypoplastic iliac wing, Capitate-hamate fusion, Postaxial hand polydactyly, Pectus carinatum, Gen... OMIM:225500
Iniencephaly
Encephalocele, Rocker bottom foot, Spina bifida, Hyperlordosis, Hydrocephalus, Myelomeningocele, ... ORPHA:63259
Cleft Lip/Palate-Deafness-Sacral Lipoma Syndrome
Meningocele, Hip dislocation ORPHA:2003
Hemangiomas, Cavernous, Of Face And Supraumbilical Midline Raphe
Bifid sternum, Supraumbilical raphe OMIM:140850
Eiken Syndrome
Broad femoral neck, Delayed epiphyseal ossification, Long thumb, Flat acetabular roof, Fibular hy... OMIM:600002
Simpson-Golabi-Behmel Syndrome
Death in infancy, Vertebral fusion, Congenital hip dislocation, Finger syndactyly, Camptodactyly ... ORPHA:373
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome
Wormian bones, Small hand, Fibular hypoplasia, Hypoplasia of proximal radius, Tracheomalacia, Cer... ORPHA:444077
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly
Death in infancy, Hypoplasia of the ulna, Lateral clavicle hook, Early ossification of capital fe... OMIM:208500
Tetraamelia-Multiple Malformations Syndrome
Abnormally ossified vertebrae, Missing ribs, Hydrocephalus, Abnormal rib morphology, Aplasia/Hypo... ORPHA:3301
Mayer-Rokitansky-Küster-Hauser Syndrome
Vertebral fusion, Abnormal sacrum morphology, Abnormal form of the vertebral bodies, Vertebral se... ORPHA:3109
Pagod Syndrome
Encephalocele, Abnormal clavicle morphology, Death in infancy, Spina bifida, Meningocele, Abnorma... ORPHA:991
Osteogenesis Imperfecta, Type Vii
Osteopenia, Multiple rib fractures, Death in infancy, Wide cranial sutures, Crumpled long bones, ... OMIM:610682
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome
Lumbar hyperlordosis, Arachnodactyly, Kyphoscoliosis, Sagittal craniosynostosis, Absent thumb, Ri... ORPHA:500150
Myhre Syndrome
Vertebral fusion, Overlapping toe, Short neck, Joint stiffness, Hypoplastic iliac wing, Short toe... OMIM:139210
Familial Osteodysplasia, Anderson Type
Recurrent fractures, Aplastic clavicle, Missing ribs, Elbow dislocation, Kyphosis, Abnormal rib m... ORPHA:2769
Prune Belly Syndrome
Congenital hip dislocation, Pectus excavatum, Abnormal rib morphology, Vertebral segmentation def... ORPHA:2970
Mosaic Trisomy 9
Camptodactyly of finger, Spina bifida, Short neck, Elbow dislocation, Rocker bottom foot, Limitat... ORPHA:99776
Alg3-Cdg
Osteopenia, Metaphyseal chondrodysplasia, Abnormal limb bone morphology, Neural tube defect, Arth... ORPHA:79321
Van Den Ende-Gupta Syndrome
Glenoid fossa hypoplasia, Lateral clavicle hook, 2-3 toe cutaneous syndactyly, Knee flexion contr... OMIM:600920
Schwartz-Jampel Syndrome
Short neck, Coxa vara, Pectus carinatum, Wrist flexion contracture, Death in infancy, Increased b... ORPHA:800
Trisomy 20P
Finger syndactyly, Camptodactyly of finger, Spina bifida, Short neck, Kyphosis, Preaxial hand pol... ORPHA:261318
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency
Flexion contracture, Femoral bowing, Narrow chest, Abnormality of the wrist, Elbow ankylosis, Abn... ORPHA:95699
Acro-Renal-Ocular Syndrome
Vertebral fusion, Finger syndactyly, Hypoplasia of the ulna, Broad hallux phalanx, Toe syndactyly... ORPHA:959
Curry-Jones Syndrome
Duplication of thumb phalanx, Unicoronal synostosis, Preaxial hand polydactyly, Lipomyelomeningoc... OMIM:601707
Trisomy 1Q
Toe syndactyly, Arachnodactyly, Camptodactyly of finger, Preaxial hand polydactyly, Hydrocephalus... ORPHA:261344
Mosaic Trisomy 8
Camptodactyly of finger, Short neck, Limitation of joint mobility, Abnormal rib morphology, Patel... ORPHA:96061
Phocomelia, Schinzel Type
Bowing of the long bones, Radial bowing, Short neck, Aplasia of the ulna, Abnormal tibia morpholo... ORPHA:2879
Elsahy-Waters Syndrome
Pectus excavatum, Shortening of all phalanges of fingers, Cutaneous finger syndactyly, Cervical C... OMIM:211380
Microcephaly-Seizures-Intellectual Disability-Heart Disease Syndrome
Postaxial hand polydactyly, Abnormal rib morphology, Abnormal sternum morphology, Short ribs, Bro... ORPHA:2519
Acrorenal-Mandibular Syndrome
Hypoplasia of the ulna, Hypoplastic scapulae, Toe syndactyly, Kyphoscoliosis, Missing ribs, Split... OMIM:200980
Osteogenesis Imperfecta
Osteopenia, Cervical kyphosis, Osteoarthritis, Flexion contracture, Bone pain, Abnormal femur mor... ORPHA:666
Duane Retraction Syndrome
Aplasia/Hypoplasia of the thumb, Short neck, Absent radius, Preaxial hand polydactyly, Hypoplasia... ORPHA:233
Neu-Laxova Syndrome 2
Finger syndactyly, Toe syndactyly, Rocker bottom foot, Spina bifida, Short neck, Scoliosis OMIM:616038
Neurocutaneous Melanocytosis
Death in infancy, Meningocele ORPHA:2481
Hallermann-Streiff Syndrome
Wormian bones, Spina bifida, Hyperlordosis, Pectus excavatum, Metaphyseal widening, Thin ribs, Ab... OMIM:234100
Vater/Vacterl Association
Occipital encephalocele, Syndactyly, Spina bifida, Absent radius, Short thumb, Hypoplasia of the ... OMIM:192350
Split Cord Malformation
Back pain, Abnormal thoracic spine morphology, Low back pain, Kyphoscoliosis, Hyperlordosis, Cerv... ORPHA:573278
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14
Short neck, Flexion contracture, Hemivertebrae, Tibial bowing, Narrow chest, Hypoplastic iliac wi... ORPHA:96334
Trisomy 13
Kyphosis, Postaxial hand polydactyly, Abnormal rib morphology, Abnormal pelvic girdle bone morpho... ORPHA:3378
Orofaciodigital Syndrome Vi
11 pairs of ribs, Brachydactyly, Toe syndactyly, Short femur, Mesoaxial hand polydactyly, Postaxi... OMIM:277170
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia
Hypoplastic pubic ramus, Proximal placement of thumb, Short neck, Short metatarsal, Patellar hypo... OMIM:609945
Monosomy 9Q22.3
Short neck, Pectus excavatum, Accelerated skeletal maturation, Hydrocephalus, Kyphosis, Abnormal ... ORPHA:77301
Cloacal Exstrophy
Spina bifida, Abnormal tibia morphology, Myelomeningocele, Hemivertebrae, Hip dislocation, Abnorm... ORPHA:93929
Focal Dermal Hypoplasia
Finger syndactyly, Toe syndactyly, Camptodactyly of finger, Spina bifida, Split hand, Split foot,... ORPHA:2092
Vacterl With Hydrocephalus
Absence of the sacrum, Spina bifida, Aqueductal stenosis, Hydrocephalus, Hypoplasia of the radius... ORPHA:3412
Occipital Horn Syndrome
Joint laxity, Short humerus, Persistent open anterior fontanelle, Pelvic bone exostoses, Broad cl... OMIM:304150
Osteopetrosis, Autosomal Recessive 7
Multiple rib fractures, Death in infancy, Femur fracture, Hydrocephalus, Osteopetrosis, Death in ... OMIM:612301
Generalized Arterial Calcification Of Infancy
Abnormality of the knee, Osteomalacia, Stippled calcification of the shoulder, Abnormal calcifica... ORPHA:51608
Trisomy 18
Camptodactyly of finger, Spina bifida, Delayed skeletal maturation, Postaxial hand polydactyly, A... ORPHA:3380
Fibrous Dysplasia Of Bone
Abnormal clavicle morphology, Abnormal morphology of the radius, Bowing of the long bones, Abnorm... ORPHA:249
Acromelic Frontonasal Dysplasia
Encephalocele, Meningocele, Patellar hypoplasia, Preaxial foot polydactyly, Aplasia/Hypoplasia of... ORPHA:1827
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins
Neonatal death, Posterior rib fusion, Butterfly vertebrae OMIM:265380
Multiple Pterygium-Malignant Hyperthermia Syndrome
Finger syndactyly, Prominent metopic ridge, Arachnodactyly, Camptodactyly of finger, Tapered fing... ORPHA:2215
Autosomal Dominant Popliteal Pterygium Syndrome
Finger syndactyly, Toe syndactyly, Joint stiffness, Split hand, Abnormal rib morphology, Poplitea... ORPHA:1300
Radio-Renal Syndrome
Short neck, Abnormality of the elbow, Abnormal rib morphology, Hypoplasia of the radius, Abnormal... ORPHA:3015
Short-Rib Thoracic Dysplasia 20 With Polydactyly
Postaxial polydactyly, Short neck, Lateral clavicle hook, Preaxial polydactyly, Hypoplastic pubic... OMIM:617925
Joubert Syndrome 14
Encephalocele, Hydrocephalus, Meningocele, Postaxial polydactyly OMIM:614424
Dextrocardia
Hydrocephalus, Congenital hip dislocation, Abnormal rib morphology ORPHA:1666
Fetal Akinesia Deformation Sequence 1
Hip contracture, Elbow contracture, Camptodactyly of finger, Short neck, Rocker bottom foot, Hydr... OMIM:208150
Lathosterolosis
Abnormal thoracic spine morphology, Prominent metopic ridge, Toe syndactyly, Postaxial hand polyd... ORPHA:46059
Aprosencephaly Syndrome
Aprosencephaly, Anencephaly OMIM:207770
Hepatic Fibrosis-Renal Cysts-Intellectual Disability Syndrome
Clinodactyly of the 5th finger, Meningocele ORPHA:2031
Jacobsen Syndrome
Death in infancy, Broad hallux phalanx, Finger syndactyly, Toe syndactyly, Spina bifida, Short ne... ORPHA:2308
Neurofibromatosis, Type I
Spina bifida, Aqueductal stenosis, Pectus excavatum, Hydrocephalus, Tibial pseudarthrosis, Genu v... OMIM:162200
Aspergillosis
Abnormal long bone morphology, Abnormality of the vertebral column, Abnormal rib morphology, Oste... ORPHA:1163
Autosomal Recessive Malignant Osteopetrosis
Bowing of the long bones, Recurrent fractures, Craniosynostosis, Hydrocephalus, Bone pain, Abnorm... ORPHA:667
Marfan Syndrome
Osteopenia, Arthralgia/arthritis, Arachnodactyly, Protrusio acetabuli, Limited elbow movement, Pe... ORPHA:558
Neu-Laxova Syndrome
Osteopenia, Osteomalacia, Spina bifida, Flexion contracture, Osteoporosis, Rickets, Scoliosis, Ar... ORPHA:2671
Neu-Laxova Syndrome 1
Finger syndactyly, Toe syndactyly, Rocker bottom foot, Spina bifida, Short neck, Long fingers, Cl... OMIM:256520
Heterotaxy, Visceral, 1, X-Linked
Absence of the sacrum, Congenital hip dislocation, Block vertebrae, Aqueductal stenosis, Myelomen... OMIM:306955
Koolen-De Vries Syndrome Due To A Point Mutation
Joint dislocation, Joint laxity, Sacral dimple, Prominent fingertip pads, Arachnodactyly, Anomaly... ORPHA:363965
17Q21.31 Microdeletion Syndrome
Joint dislocation, Joint laxity, Sacral dimple, Prominent fingertip pads, Arachnodactyly, Anomaly... ORPHA:363958
Oeis Complex
11 pairs of ribs, Absence of the sacrum, Congenital hip dislocation, Myelomeningocele, Hydrocepha... OMIM:258040
Phakomatosis Pigmentokeratotica
Hypophosphatemic rickets, Scoliosis, Spina bifida ORPHA:2874
Myhre Syndrome
Brachydactyly, Joint stiffness, Abnormal rib morphology, Platyspondyly, Abnormal epiphysis morpho... ORPHA:2588
Schinzel-Giedion Syndrome
Abnormal clavicle morphology, Sacrococcygeal teratoma, Overlapping fingers, Overlapping toe, Kyph... ORPHA:798
Mucopolysaccharidosis Type 3
Abnormal clavicle morphology, Joint stiffness, Avascular necrosis of the capital femoral epiphysi... ORPHA:581
Ear-Patella-Short Stature Syndrome
Camptodactyly of finger, Aplastic clavicle, Craniosynostosis, Elbow dislocation, Delayed skeletal... ORPHA:2554
Rubinstein-Taybi Syndrome 1
Flexion contracture, Hypoplastic iliac wing, Prominent fingertip pads, Clinodactyly of the 5th fi... OMIM:180849
Lumbar Syndrome
Myelomeningocele, Spina bifida ORPHA:83628
Ulbright-Hodes Syndrome
Short humerus, Short metacarpal, Short neck, Humeroradial synostosis, Abnormal rib morphology, Ov... ORPHA:3404
Smith-Lemli-Opitz Syndrome
Finger syndactyly, Proximal placement of thumb, Short neck, Kyphosis, Postaxial hand polydactyly,... ORPHA:818
22Q11.2 Deletion Syndrome
Arachnodactyly, Spina bifida, Short neck, Hydrocephalus, Meningocele, Abnormal thorax morphology,... ORPHA:567
Craniofacial Microsomia 1
Occipital encephalocele, Block vertebrae, Hydrocephalus, Partial duplication of thumb phalanx, He... OMIM:164210
Fanconi Anemia
Finger syndactyly, Hypoplasia of the ulna, Toe syndactyly, Abnormal morphology of ulna, Spina bif... ORPHA:84
Hereditary Acrokeratotic Poikiloderma
Finger syndactyly, Camptodactyly of finger, Abnormal rib morphology, Joint hyperflexibility, Abno... ORPHA:2907
Oculocerebrorenal Syndrome Of Lowe
Death in infancy, Osteomalacia, Recurrent fractures, Joint stiffness, Kyphosis, Abnormal rib morp... ORPHA:534
Autosomal Dominant Palmoplantar Keratoderma And Congenital Alopecia
Flexion contracture of finger, Meningocele ORPHA:1010
Monosomy 9P
Proximal placement of thumb, Short neck, Abnormality of the tarsal bones, Postaxial hand polydact... ORPHA:261112
Charge Syndrome
Aqueductal stenosis, Abnormal tibia morphology, Abnormal rib morphology, Hemivertebrae, Bifid fem... ORPHA:138
Neurodevelopmental Disorder With Dysmorphic Facies And Thin Corpus Callosum
Scoliosis, Spina bifida, Tapered finger OMIM:619480
Kindler Epidermolysis Bullosa
Finger syndactyly, Camptodactyly of finger, Flexion contracture, Abnormal rib morphology, Short 4... ORPHA:2908
Holoprosencephaly 7
Alobar holoprosencephaly, Hydrocephalus, Lobar holoprosencephaly, Holoprosencephaly, Occipital me... OMIM:610828
Alagille Syndrome 1
Hypoplasia of the ulna, Abnormal rib morphology, Hemivertebrae, Butterfly vertebral arch, Short d... OMIM:118450
Knobloch Syndrome 1
Occipital meningocele, Occipital encephalocele, Spina bifida occulta, Joint hypermobility OMIM:267750
Arima Syndrome
Postaxial foot polydactyly, Occipital meningocele, Postaxial hand polydactyly OMIM:243910
Charge Syndrome
Hypoplasia of the ulna, Down-sloping shoulders, Absent radius, Short thumb, Radial head subluxati... OMIM:214800
Townes-Brocks Syndrome
Broad hallux phalanx, Toe syndactyly, Preaxial hand polydactyly, Partial duplication of thumb pha... ORPHA:857
Exstrophy-Epispadias Complex
Abnormal joint morphology, Hydrocephalus, Spina bifida ORPHA:322
Smith-Magenis Syndrome
Toe syndactyly, Joint stiffness, Abnormal form of the vertebral bodies, Hand polydactyly, Scolios... ORPHA:819
Vulto-Van Silfhout-De Vries Syndrome
Joint laxity, Prominent fingertip pads, Sacral dimple, 2-3 toe cutaneous syndactyly OMIM:615828
Neurodevelopmental Disorder With Hypotonia And Impaired Expressive Language And With Or Without Seizures
OMIM:617171
Intellectual Disability-Epilepsy-Extrapyramidal Syndrome
ORPHA:468620

Histopathology

Summary table of phenotypes displayed during the Histopathology procedure which are considered significant. Full histopathology data table, including submitted images, can be accessed by clicking any row in this table.

There is no histopathology data for Deaf1

IMPC related publications

The table below lists publications which used either products generated by the IMPC or data produced by the phenotyping efforts of the IMPC. These publications have also been associated to Deaf1.

No publications found that use IMPC mice or data for Deaf1.

Order Mouse and ES Cells

All available products are supplied via our member's centres or partnerships. When ordering a product from the IMPC you will be redirected to one of their websites or prompted to start an email.

MGI Allele Allele Type Produced
Deaf1tm1e(EUCOMM)Hmgu Targeted, non-conditional allele ES Cells
Deaf1tm1a(EUCOMM)Hmgu KO first allele (reporter-tagged insertion with conditional potential) Mice, Targeting vectors, ES Cells
Deaf1tm1(KOMP)Vlcg Reporter-tagged deletion allele (with selection cassette) ES Cells

The IMPC Newsletter

Get highlights of the most important data releases, news and events, delivered straight to your email inbox

Subscribe to newsletter