Not currently registered for phenotyping at IMPC

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

Gene Summary

Name:
axin 1
Synonyms:
N/A

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 Axin1 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 Axin1 by orthology or direct annotation.

Disease Similarity of
phenotypes
Matching phenotypes Source
Caudal Duplication Anomaly
Uterus didelphys, Ureteral duplication OMIM:607864
Hepatocellular Carcinoma
Hepatocellular carcinoma OMIM:114550

The table below shows human diseases predicted to be associated to Axin1 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Spondylocostal Dysostosis 2, Autosomal Recessive
Vertebral clefting, Vertebral segmentation defect, Short neck, Rib fusion, Hemivertebrae OMIM:608681
Spondylocostal Dysostosis 3, Autosomal Recessive
Kyphosis, Vertebral segmentation defect, Hypoplasia of the odontoid process, Supernumerary verteb... OMIM:609813
Spondylocostal Dysostosis 1, Autosomal Recessive
Back pain, Vertebral fusion, Block vertebrae, Vertebral segmentation defect, Kyphoscoliosis, Shor... OMIM:277300
Spondylocostal Dysostosis 5
Vertebral fusion, Low back pain, Supernumerary ribs, Missing ribs, Butterfly vertebrae, Posterior... OMIM:122600
Microcephaly With Cervical Spine Fusion Anomalies
Vertebral fusion, Spinal instability OMIM:251250
Sacral Agenesis With Vertebral Anomalies
Abnormal vertebral morphology, Absence of the sacrum OMIM:615709
Posterior Fusion Of Lumbosacral Vertebrae-Blepharoptosis Syndrome
Sacral dimple, Posterior fusion of lumbosacral vertebrae, Tarsal synostosis, Joint stiffness, Abn... ORPHA:2064
Vertebral Fusion, Posterior Lumbosacral, With Blepharoptosis
Posterior fusion of lumbosacral vertebrae OMIM:192800
Dwarfism With Tall Vertebrae
Increased vertebral height OMIM:126950
Chondrocalcinosis Due To Apatite Crystal Deposition
Chondrocalcinosis, Arthropathy, Osteoarthritis of the small joints of the hand, Costal cartilage ... OMIM:118610
Autosomal Dominant Spondylocostal Dysostosis
Hyperlordosis, Short thorax, Vertebral segmentation defect, Missing ribs, Posterior rib fusion, A... ORPHA:1797
Diaphanospondylodysostosis
Absent or minimally ossified vertebral bodies, Short thorax, Enlarged thorax, Missing ribs, Abnor... ORPHA:66637
Poland Syndrome
Sprengel anomaly, Hemivertebrae, Rib fusion, Short ribs OMIM:173800
Primary Basilar Invagination
Short neck, Abnormality of the cervical spine, Abnormal vertebral morphology ORPHA:2285
Klippel-Feil Syndrome 3, Autosomal Dominant
Cervical C3/C4 vertebral fusion, Cervical C5/C6 vertebrae fusion, Thoracic scoliosis OMIM:613702
Cervical Vertebral Dysplasia
Anterior atlanto-occipital dislocation, Cervical vertebral facet hypoplasia, Cervical vertebral d... OMIM:118005
Radioulnar Synostosis-Microcephaly-Scoliosis Syndrome
Abnormality of the elbow, Radioulnar synostosis, Delayed skeletal maturation, Scoliosis, Abnormal... ORPHA:3268
Spondylocostal Dysostosis 4, Autosomal Recessive
Bell-shaped thorax, Vertebral fusion, Short thorax, Block vertebrae, Vertebral segmentation defec... OMIM:613686
Galactosialidosis
Abnormality of the vertebral column, Abnormal vertebral morphology ORPHA:351
Brachyolmia, Maroteaux Type
Short thorax, Pectus excavatum, Scoliosis, Platyspondyly, Abnormal form of the vertebral bodies ORPHA:93302
Cardioneuromyopathy With Hyaline Masses And Nemaline Rods
Cervical vertebral bodies with decreased anteroposterior diameter, Fusion of midcervical facet jo... OMIM:606842
Multiple Synostoses Syndrome 2
Vertebral fusion, Humeroradial synostosis, Finger symphalangism, Carpal synostosis, Proximal symp... OMIM:610017
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 3
Sacral dimple, Vertebral segmentation defect, Vertebral fusion, Short thorax OMIM:618845
Spondyloepiphyseal Dysplasia Tarda, Kohn Type
Abnormality of the knee, Restricted large joint movement, Abnormal vertebral morphology, Platyspo... ORPHA:163665
X-Linked Skeletal Dysplasia-Intellectual Disability Syndrome
Thoracic hemivertebrae, Fused cervical vertebrae, Scoliosis, Abnormal sacrum morphology ORPHA:1436
Spondylometaphyseal Dysplasia, Corner Fracture Type
Genu varum, Hypoplasia of the odontoid process, Hyperconvex vertebral body endplates, Ovoid verte... OMIM:184255
Klippel-Feil Syndrome 2, Autosomal Recessive
Fused cervical vertebrae, Short neck, Scoliosis, Sprengel anomaly, Cervical C2/C3 vertebral fusion OMIM:214300
Isolated Klippel-Feil Syndrome
Abnormal sacrum morphology, Abnormal vertebral segmentation and fusion, Sprengel anomaly, Short n... ORPHA:2345
Wildervanck Syndrome
Fused cervical vertebrae OMIM:314600
Becker Nevus Syndrome
Kyphosis, Supernumerary ribs, Pectus excavatum, Spina bifida occulta, Rib fusion, Scoliosis, Pect... ORPHA:64755
Cleidocranial Dysplasia, Recessive Form
Brachycephaly, Severe short stature OMIM:216330
Acromesomelic Dysplasia, Maroteaux Type
Hyperlordosis, Kyphosis, Vertebral wedging, Ovoid vertebral bodies, Scoliosis, Joint hyperflexibi... ORPHA:40
Contractures, Pterygia, And Spondylocarpotarsal Fusion Syndrome 1B
Flexion contracture, Fused cervical vertebrae, Antecubital pterygium, Short neck, Scoliosis, Tars... OMIM:618469
Mental Retardation, Skeletal Dysplasia, And Abducens Palsy
Thoracic hemivertebrae, Fused cervical vertebrae, Scoliosis, Prominent metopic ridge OMIM:309620
Osteoarthritis With Mild Chondrodysplasia
Irregular vertebral endplates, Hip osteoarthritis, Heberden's node, Platyspondyly, Beaking of ver... OMIM:604864
Autosomal Dominant Brachyolmia
Kyphoscoliosis, Short thorax, Increased vertebral height, Platyspondyly ORPHA:93304
Osteomesopyknosis
Kyphosis, Increased bone mineral density, Scoliosis, Sclerotic vertebral body, Abnormal form of t... ORPHA:2777
Autosomal Recessive Spondylocostal Dysostosis
Camptodactyly of finger, Short thorax, Kyphosis, Vertebral segmentation defect, Rib segmentation ... ORPHA:2311
Femoral-Facial Syndrome
Microtia, Renal hypoplasia/aplasia, Vertebral segmentation defect, Polycystic kidney dysplasia, L... ORPHA:1988
Heart Defects-Limb Shortening Syndrome
Kyphosis, Narrow chest, Accelerated skeletal maturation, Abnormal rib morphology, Abnormal form o... ORPHA:1354
Sprengel Deformity
Rib segmentation abnormalities, Spina bifida occulta, Cervical segmentation defect, Scoliosis, Sp... OMIM:184400
Neural Tube Defects, Folate-Sensitive
Spinal dysraphism OMIM:601634
Kyphomelic Dysplasia
Short thorax, Anterior rib cupping, Missing ribs, Flat acetabular roof, Limitation of joint mobil... ORPHA:1801
Endosteal Hyperostosis, Worth Type
Generalized osteosclerosis, Clavicular sclerosis, Abnormal rib morphology, Sclerotic vertebral bo... ORPHA:2790
Spondylocostal Dysostosis With Anal Atresia And Urogenital Anomalies
Vertebral fusion, Supernumerary vertebrae, Block vertebrae, Short ribs, Missing ribs, Short neck,... OMIM:271520
Spondylocostal Dysostosis 6, Autosomal Recessive
Cervical kyphosis, Butterfly vertebrae, Spinal canal stenosis, Scoliosis, Hemivertebrae OMIM:616566
Spondyloepiphyseal Dysplasia Tarda, Autosomal Recessive, Leroy-Spranger Type
Genu varum, Intervertebral space narrowing, Irregular vertebral endplates, Genu valgum, Decreased... OMIM:609223
Familial Congenital Mirror Movements
Fused cervical vertebrae ORPHA:238722
Asymmetric Short Stature Syndrome
Fused cervical vertebrae, Lumbar scoliosis OMIM:108450
X-Linked Intellectual Disability-Plagiocephaly Syndrome
Brachycephaly, Plagiocephaly, Flat occiput ORPHA:2898
Symbrachydactyly Of Hands And Feet
Vertebral segmentation defect, Scoliosis, Abnormality of the humeroulnar joint ORPHA:1570
Second Metatarsal-Metacarpal Syndrome
Synostosis of carpals/tarsals, Platyspondyly OMIM:269630
Sporadic Fetal Brain Disruption Sequence
Plagiocephaly, Prominent occiput ORPHA:1665
Cleft Palate-Short Stature-Vertebral Anomalies Syndrome
Short neck, Abnormal vertebral morphology ORPHA:2015
Keratoconus Posticus Circumscriptus
Abnormal vertebral segmentation and fusion, Short neck, Limited elbow extension and supination OMIM:244600
Spondylometaphyseal Dysplasia, A4 Type
Flared, irregular rib ends, Limitation of joint mobility, Platyspondyly ORPHA:168555
Kuskokwim Syndrome
Abnormal clavicle morphology, Scoliosis, Abnormal form of the vertebral bodies, Joint stiffness, ... ORPHA:1149
Contractures, Pterygia, And Spondylocarpotarsal Fusion Syndrome 1A
Knee flexion contracture, Vertebral fusion, Hip contracture, Multiple pterygia, Elbow flexion con... OMIM:178110
Brachydactyly, Type B1
Thoracolumbar scoliosis, Hypoplastic sacrum, Vertebral fusion, Delayed cranial suture closure, Jo... OMIM:113000
Verheij Syndrome
Vertebral fusion, Hip dislocation, Short neck, Scoliosis, Hemivertebrae OMIM:615583
Microcephaly-Cervical Spine Fusion Anomalies Syndrome
Hyperlordosis, Kyphosis, Fused cervical vertebrae, Pectus excavatum, Short neck, Abnormal clavicl... ORPHA:2522
Neurodevelopmental Disorder With Nonspecific Brain Abnormalities And With Or Without Seizures
Abnormal vertebral morphology OMIM:618709
Osteogenesis Imperfecta, Type Ix
Bowing of limbs due to multiple fractures, Recurrent fractures, Kyphosis, Pectus excavatum, Multi... OMIM:259440
Developmental And Speech Delay Due To Sox5 Deficiency
Vertebral fusion, Butterfly vertebrae, Thoracic kyphoscoliosis, Scoliosis, Pectus carinatum, Lumb... ORPHA:313892
Mesomelic Dysplasia, Kantaputra Type
Camptodactyly of finger, Vertebral segmentation defect, Synostosis of carpal bones, Tarsal synost... ORPHA:1836
Klippel-Feil Syndrome 1, Autosomal Dominant
Abnormal vertebral segmentation and fusion, Sprengel anomaly, Short neck, Scoliosis, Abnormal rib... OMIM:118100
Cerebrofaciothoracic Dysplasia
Bifid ribs, Narrow chest, Vertebral segmentation defect, Short neck, Rib fusion, Scoliosis, Spren... ORPHA:1394
Acropectorovertebral Dysplasia
Capitate-hamate fusion, Abnormal thorax morphology, Synostosis of carpal bones, Spina bifida occu... OMIM:102510
Metatropic Dysplasia
Camptodactyly of finger, Abnormal enchondral ossification, Kyphosis, Narrow chest, Long thorax, A... ORPHA:2635
Wildervanck Syndrome
Fused cervical vertebrae, Short neck ORPHA:3456
Acrodysplasia Scoliosis
Spina bifida occulta, Vertebral segmentation defect, Scoliosis ORPHA:2956
Epiphyseal Dysplasia, Multiple, 6
Abnormality of the knee, Irregular vertebral endplates, Knee pain, Schmorl's node, Osteoarthritis... OMIM:614135
Multiple Pterygium Syndrome, X-Linked
Increased susceptibility to fractures, Vertebral fusion, Flexion contracture, Joint dislocation, ... OMIM:312150
Congenital Amegakaryocytic Thrombocytopenia
Decreased skull ossification, Short neck, Scoliosis, Abnormal form of the vertebral bodies ORPHA:3319
Craniosynostosis 6
Brachycephaly, Parietal foramina, Plagiocephaly, Turricephaly, Right unilambdoid synostosis, Spin... OMIM:616602
Maternal Uniparental Disomy Of Chromosome 9
Patellar dislocation, Elbow ankylosis, Abnormal vertebral morphology, Kyphoscoliosis, Short neck,... ORPHA:96183
Lower Limb Malformation-Hypospadias Syndrome
Sacral dimple, Macrotia, Hypospadias, Short neck, Abnormality of the ureter, Low-set, posteriorly... ORPHA:2487
Prune Belly Syndrome
Urogenital sinus anomaly, Vesicoureteral reflux, Multicystic kidney dysplasia, Recurrent urinary ... ORPHA:2970
Ring Chromosome 21 Syndrome
Thoracic hemivertebrae, Abnormal thorax morphology, Scoliosis, Fused thoracic vertebrae ORPHA:1445
Dysspondyloenchondromatosis
Genu valgum, Joint dislocation, Generalized joint laxity, Vertebral segmentation defect, Anisospo... ORPHA:85198
Global Developmental Delay With Or Without Impaired Intellectual Development
Plagiocephaly, Ventricular septal defect, Short stature, Atrial septal defect, Frontal bossing OMIM:618330
Multiple Pterygium Syndrome, Lethal Type
Increased susceptibility to fractures, Vertebral fusion, Flexion contracture, Joint dislocation, ... OMIM:253290
Hypogonadism, Male, With Mental Retardation And Skeletal Anomalies
Abnormality of the cervical spine, Superior rib anomalies OMIM:307500
Mayer-Rokitansky-Küster-Hauser Syndrome Type 2
Abnormal rib morphology, Vertebral segmentation defect, Short neck ORPHA:2578
Gómez-López-Hernández Syndrome
Brachycephaly, Turricephaly, Short stature, Hydrocephalus, Midface retrusion ORPHA:1532
Spondylometaphyseal Dysplasia, Type A4
Osteoporotic tarsals, Enlargement of the costochondral junction, Flat acetabular roof, Ovoid vert... OMIM:609052
Becker Nevus Syndrome
Hemivertebrae, Pectus excavatum, Scoliosis, Cervical ribs OMIM:604919
Multiple Epiphyseal Dysplasia, Al-Gazali Type
Genu valgum, Abnormal vertebral morphology, Pectus excavatum, Enlarged joints, Delayed epiphyseal... ORPHA:166024
Kleefstra Syndrome 2
Midface retrusion, Plagiocephaly, Growth delay OMIM:617768
Autism, Susceptibility To, X-Linked 2
Plagiocephaly OMIM:300495
Pontine Tegmental Cap Dysplasia
Hemivertebrae, Ankle clonus, Rib fusion, Scoliosis OMIM:614688
Kbg Syndrome
Vertebral fusion, Thoracic kyphosis, Cervical ribs, Short neck, Delayed skeletal maturation, Scol... ORPHA:2332
Pentasomy X
Delayed puberty, Plagiocephaly, Short stature, Abnormal cardiac septum morphology ORPHA:11
Congenital Muscular Dystrophy, Fukuyama Type
Brachycephaly, Plagiocephaly, Dolichocephaly, Dilated cardiomyopathy, Intrauterine growth retarda... ORPHA:272
Multiple Pterygium Syndrome, Escobar Variant
Neck pterygia, Flexion contracture, Multiple joint contractures, Anterior clefting of vertebral b... OMIM:265000
Congenital Disorder Of Glycosylation, Type Iig
Hemolytic-uremic syndrome, Conductive hearing impairment, Butterfly vertebrae, Cholesteatoma, Sho... OMIM:611209
Osteogenesis Imperfecta, Type Xv
Bowing of limbs due to multiple fractures, Recurrent fractures, Joint hypermobility, Scoliosis, P... OMIM:615220
Thoracolaryngopelvic Dysplasia
Horizontal ribs, Bell-shaped thorax, Irregular vertebral endplates, Irregular chondrocostal junct... OMIM:187760
Proximal 16P11.2 Microdeletion Syndrome
Gastroesophageal reflux, Conductive hearing impairment, Sensorineural hearing impairment, Multicy... ORPHA:261197
Corpus Callosum Agenesis-Macrocephaly-Hypertelorism Syndrome
Plagiocephaly ORPHA:459074
Autosomal Recessive Cerebellar Ataxia-Epilepsy-Intellectual Disability Syndrome Due To Tud Deficiency
Brachycephaly ORPHA:404493
Muscular Dystrophy-Dystroglycanopathy (Congenital With Or Without Impaired Intellectual Development), Type B, 5
Hyperlordosis, Vertebral fusion, Kyphosis, Achilles tendon contracture, Elbow contracture, Scoliosis OMIM:606612
Postaxial Polydactyly-Dental And Vertebral Anomalies Syndrome
Vertebral fusion, Patellar dislocation, Kyphosis, Hypoplastic vertebral bodies, Elbow dislocation... ORPHA:2916
Bruck Syndrome 1
Knee flexion contracture, Increased susceptibility to fractures, Protrusio acetabuli, Hip contrac... OMIM:259450
Mayer-Rokitansky-Küster-Hauser Syndrome
Vertebral segmentation defect, Vertebral fusion, Abnormal form of the vertebral bodies, Abnormal ... ORPHA:3109
Male Hypergonadotropic Hypogonadism-Intellectual Disability-Skeletal Anomalies Syndrome
Short neck, Abnormal rib morphology, Abnormality of the humeroulnar joint, Hemivertebrae, Abnorma... ORPHA:2234
Spondylosis, Cervical
Spondylolysis, Cervical spondylosis, Spina bifida occulta, Spondylolisthesis, Osteoarthritis OMIM:184300
Radiohumeral Fusions With Other Skeletal And Craniofacial Anomalies
Brachycephaly, Occipital encephalocele, Craniosynostosis OMIM:614416
Gorlin Syndrome
Scoliosis, Vertebral fusion, Hemivertebrae, Vertebral wedging ORPHA:377
Spinal Dysplasia, Anhalt Type
Thoracolumbar scoliosis, Narrow anterio-posterior vertebral body diameter, Spinal dysplasia, Thor... OMIM:601344
Neurogenic Thoracic Outlet Syndrome
Abnormal rib morphology ORPHA:100073
Osteogenesis Imperfecta, Type Vi
Protrusio acetabuli, Biconcave vertebral bodies, Increased susceptibility to fractures, Joint lax... OMIM:613982
Non-Syndromic Bicoronal Craniosynostosis
Brachycephaly, Midface retrusion ORPHA:35099
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 5
Hyperlordosis, Vertebral fusion, Kyphosis, Achilles tendon contracture, Scoliosis OMIM:607155
Klippel-Feil Syndrome 4, Autosomal Recessive, With Nemaline Myopathy And Facial Dysmorphism
Thoracolumbar scoliosis, Flexion contracture, Acetabular dysplasia, Short neck, Cervical C2/C3 ve... OMIM:616549
Otopalatodigital Syndrome Type 1
Increased bone mineral density, Synostosis of carpal bones, Limitation of joint mobility, Elbow d... ORPHA:90650
Spondyloepiphyseal Dysplasia Tarda, Autosomal Dominant
Irregular vertebral endplates, Knee pain, Avascular necrosis of the capital femoral epiphysis, Ar... OMIM:184100
Kniest Dysplasia
Bell-shaped thorax, Short thorax, Delayed epiphyseal ossification, Arthropathy, Anterior vertebra... ORPHA:485
Metatropic Dysplasia
Flexion contracture, Long coccyx, Delayed skeletal maturation, Enlarged joints, Arthrogryposis mu... OMIM:156530
Craniofacial Dyssynostosis With Short Stature
Patent ductus arteriosus, Brachycephaly, Ventricular septal defect, Brachyturricephaly, Short sta... OMIM:218350
Spondylometaphyseal Dysplasia, 'Corner Fracture' Type
Vertebral hypoplasia, Limb pain, Short neck, Ovoid vertebral bodies, Reduced bone mineral density... ORPHA:93315
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 3
Irregular vertebral endplates, Patellar dislocation, Multiple joint dislocation, Narrow vertebral... OMIM:618395
Greenberg Dysplasia
Abnormal bone ossification, Narrow chest, Abnormal pelvis bone ossification, Decreased skull ossi... ORPHA:1426
Cebalid Syndrome
Brachycephaly, Plagiocephaly, Turricephaly, Midface retrusion, Dolichocephaly, Platystencephaly OMIM:618774
Bryant-Li-Bhoj Neurodevelopmental Syndrome 2
Brachycephaly, Plagiocephaly, Short stature, Bicuspid aortic valve, Midface retrusion, Dolichocep... OMIM:619721
Mosaic Trisomy 14
High palate, Ectopic anus, Microtia, Narrow chest, Hypoplasia of penis, Hypospadias, Short neck, ... ORPHA:1703
Microphthalmia, Syndromic 3
Vertebral fusion, Sensorineural hearing impairment, Vertebral hypoplasia, Esophageal atresia, Sup... OMIM:206900
Spondyloepimetaphyseal Dysplasia, Irapa Type
Hypoplastic sacrum, Genu valgum, Enlargement of the costochondral junction, Capitate-hamate fusio... OMIM:271650
Myotonia With Skeletal Abnormalities And Mental Retardation
Bell-shaped thorax, Genu valgum, Vertebral wedging, Kyphoscoliosis, Pectus carinatum OMIM:255710
Autosomal Recessive Multiple Pterygium Syndrome
Morphological abnormality of the gastrointestinal tract, Hearing abnormality, Conductive hearing ... ORPHA:2990
Spondylometaphyseal Dysplasia, Axial
Thoracic hypoplasia, Anterior rib cupping, Scoliosis, Platyspondyly, Narrow chest OMIM:602271
Severe Intellectual Disability-Epilepsy-Anal Anomalies-Distal Phalangeal Hypoplasia
Plagiocephaly, Ventricular septal defect ORPHA:94066
Axial Mesodermal Dysplasia Spectrum
Gastroesophageal reflux, Morphological abnormality of the gastrointestinal tract, Anorectal anoma... ORPHA:1834
Fibrodysplasia Ossificans Progressiva
Ectopic ossification in ligament tissue, Spinal rigidity, Abnormal vertebral morphology, Synostos... ORPHA:337
Spondyloepimetaphyseal Dysplasia, Irapa Type
Genu valgum, Abnormal carpal morphology, Synostosis of carpal bones, Limitation of joint mobility... ORPHA:93351
Osteosclerosis-Developmental Delay-Craniosynostosis Syndrome
Brachycephaly, Craniosynostosis, Thickened calvaria ORPHA:178377
Lamb-Shaffer Syndrome
Thoracic kyphosis, Fused cervical vertebrae, Scoliosis ORPHA:530983
Crouzon Syndrome With Acanthosis Nigricans
Brachycephaly, Hydrocephalus, Midface retrusion, Craniosynostosis OMIM:612247
Alkaptonuria
Vertebral fusion, Kyphosis, Arthropathy, Low back pain, Arthritis, Limited hip movement, Limited ... OMIM:203500
Neurodevelopmental Disorder With Structural Brain Anomalies And Dysmorphic Facies
Brachycephaly, Midface retrusion, Plagiocephaly, Unilambdoid synostosis OMIM:618577
Kbg Syndrome
Vertebral arch anomaly, Vertebral fusion, Thoracic kyphosis, Cervical ribs, Short neck, Delayed s... OMIM:148050
Stapes Ankylosis With Broad Thumbs And Toes
Fused cervical vertebrae, Proximal/middle symphalangism of 5th finger OMIM:184460
Spondyloepimetaphyseal Dysplasia With Joint Laxity
Increased susceptibility to fractures, Radioulnar dislocation, Abnormality of the elbow, Elbow fl... ORPHA:93359
Neurodevelopmental Disorder With Dysmorphic Facies And Variable Seizures
Plagiocephaly, Frontal bossing OMIM:619264
Microcephaly-Microcornea Syndrome, Seemanova Type
Brachycephaly, Growth delay, Short stature ORPHA:2528
Lethal Congenital Contracture Syndrome Type 1
Abnormality of the elbow, Recurrent fractures, Limitation of joint mobility, Short neck, Abnormal... ORPHA:1486
Lessel-Kreienkamp Syndrome
Patent foramen ovale, Scaphocephaly, Plagiocephaly, Bicuspid aortic valve, Atrial septal defect, ... OMIM:619149
Fetal Trimethadione Syndrome
Brachycephaly, Ventricular septal defect, Midface retrusion, Atrial septal defect, Tetralogy of F... ORPHA:1913
Neurogenic Arthrogryposis Multiplex Congenita
Scaphocephaly, Plagiocephaly, Abnormal heart morphology ORPHA:1143
Fibrodysplasia Ossificans Progressiva
Ectopic ossification in ligament tissue, Small cervical vertebral bodies, Ectopic ossification in... OMIM:135100
Pallister-Hall Syndrome
Hydronephrosis, Precocious puberty, Microtia, Renal dysplasia, Hydroureter, Decreased testicular ... OMIM:146510
Intellectual Developmental Disorder With Behavioral Abnormalities And Craniofacial Dysmorphism With Or Without Seizures
Plagiocephaly OMIM:618725
Intellectual Developmental Disorder, X-Linked, Syndromic 12
Brachycephaly, Postnatal growth retardation OMIM:309545
Ritscher-Schinzel Syndrome 1
Brachycephaly, Double outlet right ventricle, Ventricular septal defect, Pulmonic stenosis, Hydro... OMIM:220210
Aarskog-Scott Syndrome
Camptodactyly of finger, Abnormality of the cervical spine, Pectus excavatum, Abnormal vertebral ... ORPHA:915
Chromosome 3Q13.31 Deletion Syndrome
Brachycephaly, Plagiocephaly, Dolichocephaly OMIM:615433
Adenylosuccinate Lyase Deficiency
Brachycephaly, Flat occiput ORPHA:46
Osteomyelitis, Sterile Multifocal, With Periostitis And Pustulosis
Osteomyelitis, Fused cervical vertebrae, Osteolysis, Osteopenia, Joint swelling, Flaring of rib c... OMIM:612852
Craniofacial Dysmorphism, Skeletal Anomalies, And Impaired Intellectual Development Syndrome 1
Sacral dimple, Bifid ribs, Vertebral fusion, Hyperextensibility of the finger joints, Narrow ches... OMIM:213980
Arthrogryposis, Cleft Palate, Craniosynostosis, And Impaired Intellectual Development
Plagiocephaly, Short stature, Decreased calvarial ossification, Trigonocephaly, Craniosynostosis OMIM:618265
Phocomelia-Ectrodactyly, Ear Malformation, Deafness, And Sinus Arrhythmia
Shoulder dislocation, Genu varum, Anterior vertebral fusion, Radioulnar synostosis, Elbow disloca... OMIM:171480
Spastic Paraplegia-Intellectual Disability-Nystagmus-Obesity Syndrome
Plagiocephaly ORPHA:521390
Aicardi Syndrome
Bifid ribs, Block vertebrae, Supernumerary ribs, Missing ribs, Butterfly vertebrae, Rib fusion, S... ORPHA:50
Spondylomegaepiphyseal Dysplasia With Upper Limb Mesomelia, Punctate Calcifications, And Deafness
Irregular vertebral endplates, Flat acetabular roof, Delayed ossification of carpal bones, Cupped... OMIM:609616
Spina Bifida-Hypospadias Syndrome
Spina bifida, Spinal dysraphism ORPHA:3176
Paternal Uniparental Disomy Of Chromosome 5
Posterior plagiocephaly, Secundum atrial septal defect, Rhizomelic arm shortening ORPHA:96190
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome
Narrow chest, Abnormal clavicle morphology, Short neck, Decreased skull ossification, Platyspondy... ORPHA:93267
Intellectual Developmental Disorder With Speech Delay, Autism, And Dysmorphic Facies
Brachycephaly, Plagiocephaly, Prominent occiput, Dolichocephaly OMIM:618672
Intellectual Developmental Disorder, Autosomal Dominant 48
Plagiocephaly, Ventricular septal defect, Bicuspid aortic valve, Intrauterine growth retardation,... OMIM:617751
Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency
Brachycephaly, Patent foramen ovale, Plagiocephaly, Ventricular septal defect, Short stature, Mid... ORPHA:369891
Frontometaphyseal Dysplasia 1
Camptodactyly of finger, Wrist flexion contracture, Partial fusion of tarsals, Coat hanger sign o... OMIM:305620
Rhizomelic Limb Shortening With Dysmorphic Features
Patent foramen ovale, Plagiocephaly, Rhizomelia OMIM:618821
Spondylocarpotarsal Synostosis Syndrome
Hyperlordosis, Vertebral fusion, C2-C3 subluxation, Capitate-hamate fusion, Block vertebrae, Vert... OMIM:272460
Caudal Regression Syndrome
Missing ribs, Hypoplastic vertebral bodies, Abnormal vertebral segmentation and fusion, Scoliosis... ORPHA:3027
Impaired Intellectual Development And Distinctive Facial Features With Or Without Cardiac Defects
Brachycephaly, Patent foramen ovale, Plagiocephaly, Frontal bossing, Transposition of the great a... OMIM:616789
Peutz-Jeghers Syndrome
Stomach cancer, Enlarged polycystic ovaries, Abnormality of the gastrointestinal tract, Renal cel... ORPHA:2869
Cervical Ribs, Sprengel Anomaly, Anal Atresia, And Urethral Obstruction
Thoracolumbar scoliosis, Renal dysplasia, Anal atresia, Cervical ribs, Hypertrophy of the urinary... OMIM:601389
Gaze Palsy, Familial Horizontal, With Progressive Scoliosis 1
Plagiocephaly OMIM:607313
Hypo- And Hypermelanotic Cutaneous Macules-Retarded Growth-Intellectual Disability Syndrome
Abnormal rib morphology ORPHA:2435
Intellectual Developmental Disorder, X-Linked, Syndromic, Wu Type
Brachycephaly, Short stature OMIM:300699
Humero-Radio-Ulnar Synostosis
Abnormality of the ureter, Abnormality of the upper urinary tract ORPHA:3266
Hydrocephalus-Costovertebral Dysplasia-Sprengel Anomaly Syndrome
Sprengel anomaly, Scoliosis, Abnormal rib morphology, Hemivertebrae, Abnormal form of the vertebr... ORPHA:2180
Non-Distal Trisomy 10Q
Brachycephaly, Short stature, Frontal bossing ORPHA:1695
Fibrochondrogenesis 2
Bell-shaped thorax, Thoracic hypoplasia, Short ribs, Cupped ribs, Platyspondyly OMIM:614524
Microcephaly-Corpus Callosum And Cerebellar Vermis Hypoplasia-Facial Dysmorphism-Intellectual Disability Syndrom
Patent foramen ovale, Plagiocephaly, Ventricular septal defect, Bicuspid aortic valve, Abnormal h... ORPHA:500159
Band Heterotopia
Plagiocephaly OMIM:600348
Cog1-Cdg
Vertebral segmentation defect, Flat acetabular roof, Butterfly vertebrae, Kyphoscoliosis, Short n... ORPHA:263508
Aicardi Syndrome
Bifid ribs, Block vertebrae, Supernumerary ribs, Missing ribs, Butterfly vertebrae, Rib fusion, S... OMIM:304050
Neurodevelopmental Disorder And Language Delay With Or Without Structural Brain Abnormalities
Plagiocephaly, Atrial septal defect, Frontal bossing, Muscular ventricular septal defect, Umbilic... OMIM:618354
Coffin-Siris Syndrome 6
Short stature, Plagiocephaly, Atrial septal defect, Frontal bossing OMIM:617808
Muenke Syndrome
Brachycephaly, Midface retrusion, Plagiocephaly, Coronal craniosynostosis OMIM:602849
Summitt Syndrome
Craniosynostosis, Plagiocephaly ORPHA:3210
Ehlers-Danlos Syndrome, Classic-Like, 2
Shoulder dislocation, Generalized joint laxity, Facet joint arthrosis, Hip dislocation, Joint hyp... OMIM:618000
Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 2
Brachycephaly, Plagiocephaly, Intrauterine growth retardation, Frontal bossing OMIM:616801
Anencephaly 1
Spina bifida, Anencephaly OMIM:206500
Mullerian Duct Aplasia, Unilateral Renal Agenesis, And Cervicothoracic Somite Anomalies
Conductive hearing impairment, Bicornuate uterus, Renal agenesis, Azoospermia, Unilateral renal a... OMIM:601076
Juberg-Hayward Syndrome
Abnormality of the elbow, Abnormality of the wrist, Abnormal vertebral morphology, Radioulnar syn... ORPHA:2319
Visceral Myopathy 2
Gastroesophageal reflux, Esophageal stricture, Ineffective esophageal peristalsis, Volvulus, Mega... OMIM:619350
Septopreoptic Holoprosencephaly
Abnormal rib morphology, Abnormal vertebral morphology ORPHA:280195
Laryngotracheoesophageal Cleft Type 4
Abnormal rib morphology, Abnormal form of the vertebral bodies ORPHA:93941
Thanatophoric Dysplasia, Type Ii
Short ribs, Wide-cupped costochondral junctions, Platyspondyly, Narrow chest, Small abnormally fo... OMIM:187601
Endosteal Hyperostosis, Autosomal Dominant
Metacarpal diaphyseal endosteal sclerosis, Metatarsal diaphyseal endosteal sclerosis, Clavicular ... OMIM:144750
Axin2-Related Attenuated Familial Adenomatous Polyposis
Colon cancer, Neoplasm of the rectum, Colorectal polyposis, Adenomatous colonic polyposis ORPHA:401911
Imperforate Oropharynx-Costovertebral Anomalies Syndrome
Missing ribs, Joint hyperflexibility, Abnormal rib morphology, Hemivertebrae, Abnormal form of th... ORPHA:2759
Axial Spondylometaphyseal Dysplasia
Flared, irregular rib ends, Thoracic hypoplasia, Short ribs, Posterior wedging of vertebral bodie... ORPHA:168549
Diastrophic Dysplasia
Camptodactyly of finger, Joint dislocation, Kyphosis, Increased bone mineral density, Elbow dislo... ORPHA:628
Idiopathic Juvenile Osteoporosis
Recurrent fractures, Kyphosis, Vertebral compression fracture, Osteoporosis, Bone pain ORPHA:85193
Vertebral Hypersegmentation And Orofacial Anomalies
Supernumerary ribs, Pectus excavatum, Joint hypermobility, Six lumbar vertebrae, Scapular winging OMIM:619122
Craniodigital-Intellectual Disability Syndrome
Spina bifida occulta, Brachycephaly, Short stature ORPHA:1514
Mosaic Trisomy 20
Vertebral fusion, Kyphosis, Fused cervical vertebrae, Vertebral segmentation defect, Spinal canal... ORPHA:1724
Cornelia De Lange Syndrome 2
Brachycephaly, Short stature, Hypertrophic cardiomyopathy, Intrauterine growth retardation, Postn... OMIM:300590
Intellectual Developmental Disorder, Autosomal Dominant 26
Brachycephaly, Short stature, Intrauterine growth retardation, Umbilical hernia OMIM:615834
Basal Cell Nevus Syndrome 1
Bifid ribs, Vertebral fusion, Abnormal sternum morphology, Short ribs, Vertebral wedging, Supernu... OMIM:109400
Robinow Syndrome, Autosomal Recessive 1
Thoracolumbar scoliosis, Hypoplastic sacrum, Vertebral fusion, Delayed cranial suture closure, Pr... OMIM:268310
Intellectual Developmental Disorder, Autosomal Dominant 66
Brachycephaly, Secundum atrial septal defect, Transposition of the great arteries, Plagiocephaly OMIM:619910
Cat-Eye Syndrome
Renal hypoplasia/aplasia, Anal atresia, Abnormal localization of kidney, Abnormal rib morphology,... ORPHA:195
Bardet-Biedl Syndrome 8
Brachycephaly, Situs inversus totalis OMIM:615985
Neurodevelopmental Disorder With Hypotonia And Variable Intellectual And Behavioral Abnormalities
Brachycephaly, Plagiocephaly OMIM:618603
Developmental And Epileptic Encephalopathy 1
Plagiocephaly, Growth delay OMIM:308350
Vertebral, Cardiac, Tracheoesophageal, Renal, And Limb Defects
Fused cervical vertebrae, Butterfly vertebrae, Pectus excavatum, Spina bifida occulta, Sprengel a... OMIM:619227
Chromosome 8Q22.1 Duplication Syndrome
Limitation of joint mobility, Enlarged interphalangeal joints, Interphalangeal joint contracture ... OMIM:151200
Ganglioneuroma
Colorectal polyposis, Abnormal prostate morphology, Multiple intestinal neurofibromatosis, Gastro... ORPHA:251992
Aminopterin Syndrome Sine Aminopterin
Brachycephaly, Short stature, Frontal bossing, Intrauterine growth retardation, Umbilical hernia OMIM:600325
Structural Brain Anomalies With Impaired Intellectual Development And Craniosynostosis
Brachycephaly, Spina bifida occulta, Flat occiput, Bicoronal synostosis, Lambdoidal craniosynostosis OMIM:618736
Intellectual Developmental Disorder, Autosomal Dominant 67
Posterior plagiocephaly OMIM:619927
Ring Chromosome 8 Syndrome
Abnormality of the ureter, Round ear, Hydronephrosis ORPHA:1450
6Q25 Microdeletion Syndrome
Plagiocephaly, Short stature ORPHA:251056
Humeroradial Synostosis With Craniofacial Anomalies
Brachycephaly, Plagiocephaly, Frontal bossing OMIM:236410
Prune1-Related Neurological Syndrome
Hypertrophic cardiomyopathy, Plagiocephaly ORPHA:544469
Craniofrontonasal Dysplasia
Brachycephaly, Plagiocephaly, Craniosynostosis, Frontal bossing ORPHA:1520
Neurodevelopmental Disorder With Brain Anomalies And With Or Without Vertebral Or Cardiac Anomalies
Midface retrusion, Plagiocephaly OMIM:618731
Femoral-Facial Syndrome
Hypoplastic acetabulae, Limited elbow movement, Humeroradial synostosis, Missing ribs, Radioulnar... OMIM:134780
Vacterl/Vater Association
Anorectal anomaly, Ambiguous genitalia, Multicystic kidney dysplasia, Abnormal morphology of fema... ORPHA:887
Multiple Epiphyseal Dysplasia Type 5
Genu varum, Back pain, Genu valgum, Knee pain, Avascular necrosis of the capital femoral epiphysi... ORPHA:93311
Larsen Syndrome
Vertebral fusion, Spondylolysis, Accessory carpal bones, Cervical kyphosis, Hip dislocation, Join... OMIM:150250
Intellectual Disability-Facial Dysmorphism-Hand Anomalies Syndrome
Cervical C2/C3 vertebral fusion ORPHA:370010
Cortical Dysplasia, Complex, With Other Brain Malformations 13
Plagiocephaly OMIM:614563
Short-Rib Thoracic Dysplasia 17 With Or Without Polydactyly
Horizontal ribs, Short ribs, Lateral clavicle hook, Acetabular spurs, Narrow chest, Trident aceta... OMIM:617405
White Forelock With Malformations
Spina bifida occulta, Sprengel anomaly, Delayed skeletal maturation, Joint hyperflexibility, Abno... ORPHA:2475
Recombinant Chromosome 8 Syndrome
Patent ductus arteriosus, Double outlet right ventricle, Brachycephaly, Ventricular septal defect... OMIM:179613
Craniosynostosis-Hydrocephalus-Arnold-Chiari Malformation Type I-Radioulnar Synostosis Syndrome
Patent ductus arteriosus, Brachycephaly, Turricephaly, Hydrocephalus, Craniosynostosis, Umbilical... ORPHA:171839
Autosomal Recessive Robinow Syndrome
Sacral dimple, Multicystic kidney dysplasia, Bifid tongue, Ectopic anus, Kyphosis, Ankyloglossia,... ORPHA:1507
Developmental And Epileptic Encephalopathy 65
Plagiocephaly OMIM:618008
Neurodevelopmental Disorder With Hypotonia, Microcephaly, And Seizures
Brachycephaly, Plagiocephaly, Short stature OMIM:618862
Spondyloepimetaphyseal Dysplasia, Strudwick Type
Hyperlordosis, Genu valgum, Anterior rib cupping, Hypoplasia of the odontoid process, Scoliosis, ... OMIM:184250
Spondyloepimetaphyseal Dysplasia, Borochowitz-Cormier-Daire Type
Thoracic hypoplasia, Flat acetabular roof, Pectus excavatum, Platyspondyly, Posterior rib cupping... OMIM:608728
Mucopolysaccharidosis Type 4
Hyperlordosis, Genu valgum, Joint dislocation, Short thorax, Kyphosis, Spinal canal stenosis, Sho... ORPHA:582
Lateral Meningocele Syndrome
Biconcave vertebral bodies, Vertebral fusion, Kyphosis, Joint hypermobility, Pectus excavatum, Sh... OMIM:130720
Nevus Comedonicus Syndrome
Spina bifida occulta, Scoliosis, Abnormal vertebral morphology ORPHA:64754
German Syndrome
Brachycephaly, Abnormal cardiac septum morphology, Short stature, Dolichocephaly, Midface retrusi... ORPHA:2077
Osteogenesis Imperfecta, Type Iii
Protrusio acetabuli, Biconcave vertebral bodies, Bowing of limbs due to multiple fractures, Recur... OMIM:259420
Osteogenesis Imperfecta, Type Xviii
Biconcave vertebral bodies, Recurrent fractures, Joint laxity, Joint hypermobility, Generalized o... OMIM:617952
Chromosome 3Pter-P25 Deletion Syndrome
Brachycephaly, Atrioventricular canal defect, Short stature, Dolichocephaly, Flat occiput, Growth... OMIM:613792
Trisomy 13
Abnormal antihelix morphology, Hydronephrosis, Sensorineural hearing impairment, Kyphosis, Abnorm... ORPHA:3378
Wolf-Hirschhorn Syndrome
Sacral dimple, Abnormality of the urinary system, Kyphosis, Microtia, Abnormality of the kidney, ... ORPHA:280
Thrombocytopenia-Absent Radius Syndrome
Genu varum, Patellar dislocation, Fused cervical vertebrae, Hip dislocation, Cervical ribs, Scoli... ORPHA:3320
Auricular Abnormalities-Cleft Lip With Or Without Cleft Palate-Ocular Abnormalities Syndrome
Plagiocephaly ORPHA:77300
Osteogenesis Imperfecta, Type Ii
Bell-shaped thorax, Thoracic hypoplasia, Recurrent fractures, Multiple prenatal fractures, Platys... OMIM:166210
Craniosynostosis, Herrmann-Opitz Type
Brachycephaly, Turricephaly, Short stature, Craniosynostosis, Intrauterine growth retardation ORPHA:2145
Mucopolysaccharidosis, Type X
Hyperlordosis, Genu valgum, Broad clavicles, Spatulate ribs, Scoliosis, Irregular acetabular roof... OMIM:619698
Spondylometaphyseal Dysplasia With Cone-Rod Dystrophy
Severe platyspondyly, Cupped ribs, Ovoid vertebral bodies, Scoliosis, Platyspondyly, Joint stiffness OMIM:608940
Penoscrotal Transposition
Patellar aplasia, Shawl scrotum, Renal dysplasia, Penoscrotal transposition, Renal agenesis, Abno... ORPHA:2842
Autosomal Dominant Spastic Paraplegia Type 29
Hiatus hernia, Abnormality of the lower urinary tract, Hearing impairment, Abnormal rectum morpho... ORPHA:101009
Microcephaly, Facial Dysmorphism, Renal Agenesis, And Ambiguous Genitalia Syndrome
Patent ductus arteriosus, Brachycephaly, Ventricular septal defect, Hypoplastic right heart, Atri... OMIM:618142
Robinow Syndrome
Hydronephrosis, Multicystic kidney dysplasia, Bifid tongue, External genital hypoplasia, Ankylogl... ORPHA:97360
Koolen-De Vries Syndrome
Vertebral fusion, Kyphosis, Vertebral segmentation defect, Hip dislocation, Pectus excavatum, Sco... ORPHA:96169
Kleefstra Syndrome Due To A Point Mutation
Brachycephaly, Plagiocephaly, Short stature, Midface retrusion, Abnormal heart morphology, Umbili... ORPHA:261652
Mucopolysaccharidosis, Type Iva
Anterior beaking of lumbar vertebrae, Hyperlordosis, Genu valgum, Large elbow, Kyphosis, Prominen... OMIM:253000
Potocki-Shaffer Syndrome
Brachycephaly, Parietal foramina, Turricephaly OMIM:601224
Hurler-Scheie Syndrome
Spinal canal stenosis, Abnormal vertebral morphology, Limitation of joint mobility ORPHA:93476
Spondyloepimetaphyseal Dysplasia, Missouri Type
Irregular sclerotic endplates, Genu varum, Flared, irregular rib ends, Pear-shaped vertebrae, Pla... OMIM:602111
Osteogenesis Imperfecta, Type Xvi
Recurrent fractures, Multiple rib fractures, Joint hypermobility, Osteopenia, Decreased calvarial... OMIM:616229
Intellectual Developmental Disorder, X-Linked 1
Brachycephaly OMIM:309530
Frontonasal Dysplasia-Alopecia-Genital Anomalies Syndrome
Brachycephaly, Encephalocele, Coronal craniosynostosis, Frontal bossing, Calvarial skull defect, ... ORPHA:228390
Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked
Vesicoureteral reflux, Butterfly vertebrae, Large earlobe, Megarectum, Hypospadias, Duplicated co... OMIM:301056
Potocki-Shaffer Syndrome
Brachycephaly, Parietal foramina, Delayed puberty ORPHA:52022
Camptodactyly Syndrome, Guadalajara Type 1
Brachycephaly, Short stature, Spina bifida, Midface retrusion, Intrauterine growth retardation ORPHA:1327
1P36 Deletion Syndrome
Conductive hearing impairment, Abnormality of the anus, Abnormal intestine morphology, Dysphagia,... ORPHA:1606
Neurodevelopmental Disorder With Microcephaly, Hypotonia, And Variable Brain Anomalies
Plagiocephaly OMIM:617481
Bresek Syndrome
Growth delay, Plagiocephaly, Intrauterine growth retardation ORPHA:85284
Peroxisomal Acyl-Coa Oxidase Deficiency
Brachycephaly, Frontal bossing OMIM:264470
8Q12 Microduplication Syndrome
Brachycephaly, Ventricular septal defect, Atrial septal defect ORPHA:228399
Spondyloepimetaphyseal Dysplasia, Shohat Type
Hyperlordosis, Generalized bone demineralization, Genu varum, Thoracic hypoplasia, Squared-off pl... ORPHA:93352
Intellectual Developmental Disorder, Autosomal Recessive 38
Plagiocephaly OMIM:615516
Spondyloepimetaphyseal Dysplasia Congenita, Strudwick Type
Restricted large joint movement, Delayed ossification of carpal bones, Abnormal vertebral morphol... ORPHA:93346
Holt-Oram Syndrome
Kyphosis, Radioulnar synostosis, Down-sloping shoulders, Pectus excavatum, Sprengel anomaly, Abno... ORPHA:392
Developmental Delay With Variable Intellectual Impairment And Behavioral Abnormalities
Brachycephaly, Midface retrusion, Plagiocephaly, Frontal bossing OMIM:618430
Intellectual Developmental Disorder With Dysmorphic Facies And Behavioral Abnormalities
Plagiocephaly, Short stature OMIM:618089
Schneckenbecken Dysplasia
Advanced ossification of carpal bones, Anterior rib cupping, Thoracic hypoplasia, Short ribs, Nar... OMIM:269250
Phaver Syndrome
Camptodactyly of finger, Pterygium, Butterfly vertebrae, Radioulnar synostosis, Abnormal rib morp... ORPHA:2876
Achondrogenesis Type 1B
Short thorax, Abnormal enchondral ossification, Narrow chest, Short neck, Abnormal rib morphology ORPHA:93298
Pseudoachondroplasia
Genu varum, Genu valgum, Delayed epiphyseal ossification, Kyphosis, Ulnar deviation of the wrist,... OMIM:177170
Cole-Carpenter Syndrome
Recurrent fractures, Kyphosis, Wormian bones, Scoliosis, Joint hyperflexibility, Abnormal rib mor... ORPHA:2050
Global Developmental Delay-Alopecia-Macrocephaly-Facial Dysmorphism-Structural Brain Anomalies Syndrome
Sacral dimple, Macrotia, Sensorineural hearing impairment, Bilateral cryptorchidism, Celiac disea... ORPHA:544488
10Q22.3Q23.3 Microduplication Syndrome
Ambiguous genitalia, Hypospadias, Abnormal clavicle morphology, Abnormal rib morphology, Low-set ... ORPHA:276422
Muenke Syndrome
Brachycephaly, Plagiocephaly, Coronal craniosynostosis ORPHA:53271
Caudal Duplication
Uterus didelphys, Renal hypoplasia/aplasia, Vertebral segmentation defect, Abnormal sacrum morpho... ORPHA:1756
Infantile-Onset X-Linked Spinal Muscular Atrophy
Knee flexion contracture, Hip contracture, Short ribs, Elbow flexion contracture, Kyphoscoliosis,... ORPHA:1145
Brachymorphism-Onychodysplasia-Dysphalangism Syndrome
Brachycephaly, Abnormal mitral valve morphology, Short stature, Biparietal narrowing, Atrial sept... ORPHA:1292
Fibrochondrogenesis
Camptodactyly of finger, Bell-shaped thorax, Short ribs, Narrow chest, Hypoplastic scapulae, Shor... ORPHA:2021
Holoprosencephaly-Craniosynostosis Syndrome
Brachycephaly, Plagiocephaly, Craniosynostosis, Short stature ORPHA:2163
Cooper-Jabs Syndrome
Brachycephaly, Ventricular septal defect, Short stature, Frontal bossing, Umbilical hernia ORPHA:1488
Cardiospondylocarpofacial Syndrome
Fusion of middle ear ossicles, Fused cervical vertebrae, Carpal synostosis, Joint laxity, Joint h... OMIM:157800
Hereditary Sensory And Autonomic Neuropathy Due To Tecpr2 Mutation
Brachycephaly, Short stature ORPHA:320385
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia
11 pairs of ribs, Thin ribs, Decreased skull ossification, Platyspondyly OMIM:300863
Even-Plus Syndrome
Brachycephaly, Patent foramen ovale, Midface retrusion, Atrial septal defect, Severe short stature OMIM:616854
Atelosteogenesis, Type I
11 pairs of ribs, Bell-shaped thorax, Thoracic hypoplasia, Vertebral hypoplasia, Fused cervical v... OMIM:108720
Intellectual Disability-Hypotonia-Brachycephaly-Pyloric Stenosis-Cryptorchidism Syndrome
Brachycephaly, Craniosynostosis, Short stature, Frontal bossing ORPHA:314575
Congenital Heart Defects, Dysmorphic Facial Features, And Intellectual Developmental Disorder
Plagiocephaly, Ventricular septal defect, Short stature, Prominent occiput, Atrial septal defect,... OMIM:617360
Congenital Heart Defects And Ectodermal Dysplasia
Brachycephaly, Atrioventricular canal defect, Frontal bossing OMIM:617364
Hennekam Lymphangiectasia-Lymphedema Syndrome 1
Vesicoureteral reflux, Conductive hearing impairment, Narrow palate, Sensorineural hearing impair... OMIM:235510
Methylmalonic Aciduria And Homocystinuria, Cblx Type
Brachycephaly, Short stature OMIM:309541
Mucopolysaccharidosis, Type Iiia
Ovoid thoracolumbar vertebrae, Thickened ribs, Dense calvaria, Scoliosis, Joint stiffness OMIM:252900
Neuropathy, Hereditary Sensory And Autonomic, Type Ix, With Developmental Delay
Brachycephaly, Short stature OMIM:615031
Pseudodiastrophic Dysplasia
Brachycephaly, Rhizomelia, Midface retrusion, Frontal bossing, Severe short stature OMIM:264180
Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 1
Brachycephaly, Intrauterine growth retardation, Postnatal growth retardation OMIM:615419
Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome
Patent foramen ovale, Plagiocephaly, Ventricular septal defect, Bicuspid aortic valve, Midface re... ORPHA:457279
Non-Syndromic Anorectal Malformation
Anorectal anomaly, Ectopic anus, Hemisacrum, Persistent cloaca, Anal atresia, Hearing impairment,... ORPHA:557
Hyperphosphatasia With Impaired Intellectual Development Syndrome 2
Left unicoronal synostosis, Plagiocephaly, Atrial septal defect, Growth delay, Anterior plagiocep... OMIM:614749
Autosomal Dominant Intellectual Disability-Craniofacial Anomalies-Cardiac Defects Syndrome
Plagiocephaly, Ventricular septal defect, Short stature, Atrial septal defect, Growth delay, Cran... ORPHA:457193
Hypotonia-Speech Impairment-Severe Cognitive Delay Syndrome
Plagiocephaly, Intrauterine growth retardation, Short stature, Frontal bossing ORPHA:371364
Autism Spectrum Disorder Due To Auts2 Deficiency
Kyphosis, Repetitive compulsive behavior, Abnormal repetitive mannerisms, Compulsive behaviors, S... ORPHA:352490
Intellectual Developmental Disorder, Autosomal Dominant 52
Lumbar scoliosis, Scapular winging, Pectus carinatum, Cervical C2/C3 vertebral fusion, Lumbar hyp... OMIM:617796
Grant Syndrome
Joint dislocation, Narrow chest, Abnormality of the glenoid fossa, Sprengel anomaly, Joint hyperf... ORPHA:2097
Osteogenesis Imperfecta, Type Xx
Brachycephaly, Plagiocephaly, Midface retrusion, Disproportionate short-limb short stature, Intra... OMIM:618644
Congenital Myopathy 13
Brachycephaly, Midface retrusion, Short stature OMIM:255995
Dyggve-Melchior-Clausen Disease
Genu valgum, Hypoplastic acetabulae, Short thorax, Pectus carinatum, Horizontal inferior border o... ORPHA:239
Melnick-Needles Syndrome
Delayed cranial suture closure, Osteolytic defects of the phalanges of the hand, Short thorax, Na... ORPHA:2484
Renal Caliceal Diverticuli-Deafness Syndrome
Sensorineural hearing impairment, Abnormality of the kidney, Hydroureter, Abnormality of the uppe... ORPHA:2838
Crouzon Syndrome
Brachycephaly, Turricephaly, Hydrocephalus, Midface retrusion, Frontal bossing, Multiple suture c... ORPHA:207
Pierre Robin Sequence With Pectus Excavatum And Rib And Scapular Anomalies
Abnormal rib morphology, Pectus excavatum, Hypoplastic distal segments of scapulae, Joint hypermo... OMIM:602196
3M Syndrome
Horizontal ribs, Hyperlordosis, Enlarged thorax, Short thorax, Increased vertebral height, Abnorm... ORPHA:2616
Dihydropyrimidinase Deficiency
Plagiocephaly, Growth delay OMIM:222748
Robinow-Sorauf Syndrome
Craniosynostosis, Plagiocephaly, Pansynostosis OMIM:180750
Achondrogenesis Type 1A
Short thorax, Abnormal enchondral ossification, Recurrent fractures, Multiple rib fractures, Shor... ORPHA:93299
22Q11.2 Duplication Syndrome
Displacement of the urethral meatus, Abnormal repetitive mannerisms, Compulsive behaviors, Urethr... ORPHA:1727
Pierpont Syndrome
Brachycephaly, Midface retrusion, Short stature OMIM:602342
Malan Overgrowth Syndrome
Scaphocephaly, Plagiocephaly, Frontal bossing ORPHA:420179
Platyspondylic Lethal Skeletal Dysplasia, Torrance Type
Thoracic hypoplasia, Severe platyspondyly, Short ribs, Decreased cranial base ossification, Flat ... OMIM:151210
Fanconi Anemia, Complementation Group O
Stage 5 chronic kidney disease, External genital hypoplasia, Anal atresia, Renal cyst, Cryptorchi... OMIM:613390
X-Linked Intellectual Disability, Sutherland-Haan Type
Brachycephaly, Short stature ORPHA:93950
Mucopolysaccharidosis, Type Iiib
Ovoid thoracolumbar vertebrae, Thickened ribs, Dense calvaria, Joint stiffness OMIM:252920
Craniodiaphyseal Dysplasia
Abnormal rib morphology, Stenosis of the external auditory canal, Conductive hearing impairment ORPHA:1513
Ehlers-Danlos Syndrome, Musculocontractural Type, 2
Brachycephaly, Patent foramen ovale, Mitral valve prolapse, Midface retrusion, Frontal bossing OMIM:615539
Faciocardiorenal Syndrome
Plagiocephaly, Tricuspid valve prolapse, Endocardial fibroelastosis ORPHA:1973
48,Xxyy Syndrome
Gastroesophageal reflux, Decreased testicular size, Hypoplasia of penis, Azoospermia, Abnormal re... ORPHA:10
Bryant-Li-Bhoj Neurodevelopmental Syndrome 1
Plagiocephaly, Bicuspid aortic valve, Midface retrusion, Atrial septal defect, Frontal bossing OMIM:619720
Jeune Syndrome
Abnormal sternum morphology, Short thorax, Narrow chest, Nephropathy, Abnormal clavicle morpholog... ORPHA:474
Dyggve-Melchior-Clausen Disease
Camptodactyly, Short neck, Flat glenoid fossa, Beaking of vertebral bodies, Lumbar hyperlordosis,... OMIM:223800
Faciodigitogenital Syndrome, Autosomal Recessive
Vertebral fusion, Camptodactyly, Down-sloping shoulders, Pectus excavatum, Abnormal rib cage morp... OMIM:227330
Congenital Lactic Acidosis, Saguenay-Lac-Saint-Jean Type
Brachycephaly, Hypertrophic cardiomyopathy, Abnormal heart morphology ORPHA:70472
Neurodevelopmental Disorder With Hypotonia, Facial Dysmorphism, And Brain Abnormalities
Hypertrophic cardiomyopathy, Plagiocephaly, Flat occiput, Atrial septal defect OMIM:619383
Diphallia
Butterfly vertebrae, Ectopic scrotum, Bifid penis, Abnormal spermatogenesis, Cryptorchidism, Dist... ORPHA:227
Zttk Syndrome
High palate, Kyphosis, Bifid uvula, Submucous cleft hard palate, Unilateral renal agenesis, Cervi... OMIM:617140
Foxg1 Syndrome
Gastroesophageal reflux, Stereotypical hand wringing, Abnormal repetitive mannerisms, Kyphoscolio... ORPHA:561854
Mucopolysaccharidosis, Type Iiic
Ovoid thoracolumbar vertebrae, Thickened ribs, Dense calvaria, Kyphoscoliosis, Beaking of vertebr... OMIM:252930
Congenital Disorder Of Glycosylation, Type Il
Pericardial effusion, Brachycephaly, Abnormal cardiac septum morphology, Frontal bossing OMIM:608776
Neurodevelopmental Disorder With Neuromuscular And Skeletal Abnormalities
Plagiocephaly, Intrauterine growth retardation, Short stature OMIM:619833
Intellectual Disability-Polydactyly-Uncombable Hair Syndrome
Abnormal antihelix morphology, Conductive hearing impairment, Aplasia/Hypoplasia of the earlobes,... ORPHA:3082
Solitary Rectal Ulcer Syndrome
Stercoral ulcer, Anal fissure, Hematochezia, Compulsive behaviors, Rectal prolapse ORPHA:209964
Wolf-Hirschhorn Syndrome
Sacral dimple, Gastroesophageal reflux, Vertebral fusion, Conductive hearing impairment, Sensorin... OMIM:194190
Otopalatodigital Syndrome Type 2
Camptodactyly of finger, Narrow chest, Increased bone mineral density, Synostosis of carpal bones... ORPHA:90652
Sifrim-Hitz-Weiss Syndrome
Short clavicles, Fused cervical vertebrae, Flat acetabular roof, Wormian bones OMIM:617159
Short-Rib Thoracic Dysplasia 11 With Or Without Polydactyly
Horizontal ribs, Bell-shaped thorax, Thoracic dysplasia, Lateral clavicle hook, Cryptorchidism, N... OMIM:615633
Cole-Carpenter Syndrome 2
Recurrent fractures, Kyphosis, Coronal craniosynostosis, Pectus excavatum, Wide cranial sutures, ... OMIM:616294
Craniofacial Dysplasia-Short Stature-Ectodermal Anomalies-Intellectual Disability Syndrome
Brachycephaly, Sagittal craniosynostosis, Scaphocephaly, Short stature, Hydrocephalus, Atrial sep... ORPHA:459061
Shashi-Pena Syndrome
Cervical C2/C3 vertebral fusion, Kyphosis, Accelerated skeletal maturation, Scoliosis, Osteoporosis OMIM:617190
Congenital Anomalies Of Kidney And Urinary Tract 2
Back pain, Congenital megaureter, Renal dysplasia, Hydroureter, Ureteropelvic junction obstructio... OMIM:143400
Craniosynostosis 2
Brachycephaly, Turricephaly, Frontal bossing, Unicoronal synostosis, Trigonocephaly, Bicoronal sy... OMIM:604757
Renpenning Syndrome
Macrotia, Round ear, Sensorineural hearing impairment, Decreased testicular size, Anal atresia, P... ORPHA:3242
Chromosome 6Pter-P24 Deletion Syndrome
Patent ductus arteriosus, Patent foramen ovale, Brachycephaly, Ventricular septal defect, Hydroce... OMIM:612582
Galloway-Mowat Syndrome 4
Plagiocephaly, Short stature OMIM:617730
Neurodevelopmental Disorder With Or Without Autistic Features And/Or Structural Brain Abnormalities
Brachycephaly OMIM:618859
Anauxetic Dysplasia 3
Midface retrusion, Plagiocephaly, Severe short stature OMIM:618853
Blepharophimosis-Impaired Intellectual Development Syndrome
Plagiocephaly, Frontal bossing OMIM:619293
Carpenter Syndrome 1
Patent ductus arteriosus, Brachycephaly, Sagittal craniosynostosis, Ventricular septal defect, Sh... OMIM:201000
Intellectual Disability-Strabismus Syndrome
Short stature, Plagiocephaly, Intrauterine growth retardation, Atrial septal defect ORPHA:363528
Mucopolysaccharidosis Type 6
Genu valgum, Kyphosis, Short neck, Ovoid vertebral bodies, Joint stiffness, Broad ribs ORPHA:583
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins
Congenital shortened small intestine, Esophageal atresia, Bicornuate uterus, Hydroureter, Butterf... OMIM:265380
Chromosome 2Q37 Deletion Syndrome
Subvalvular aortic stenosis, Brachycephaly, Midface retrusion, Short stature OMIM:600430
Cenani-Lenz Syndrome
Synostosis of carpal bones, Hip dislocation, Radioulnar synostosis, Synostosis of joints, Elbow d... ORPHA:3258
Cataract-Intellectual Disability-Hypogonadism Syndrome
Brachycephaly, Midface retrusion, Short stature ORPHA:1387
Postaxial Acrofacial Dysostosis
Midgut malrotation, Supernumerary vertebrae, Conductive hearing impairment, Abnormality of the ki... OMIM:263750
Crouzon Syndrome-Acanthosis Nigricans Syndrome
Brachycephaly, Hydrocephalus, Turricephaly, Frontal bossing ORPHA:93262
Urban-Rogers-Meyer Syndrome
Aplasia/Hypoplasia of the earlobes, Kyphosis, Hypogonadism, Hypoplasia of penis, Abnormality of t... ORPHA:3409
Neurodevelopmental Disorder With Hypotonia, Impaired Language, And Dysmorphic Features
Plagiocephaly, Umbilical hernia OMIM:616579
Squamous Cell Carcinoma Of The Anal Canal
Neoplasm of the liver, Neoplasm of the rectum, Intestinal bleeding, Anal canal squamous cell carc... ORPHA:424019
Fanconi Anemia, Complementation Group I
Fused cervical vertebrae, Short neck OMIM:609053
Ritscher-Schinzel Syndrome 4
Brachycephaly, Plagiocephaly, Short stature OMIM:619435
Mosaic Trisomy 8
Abnormal antihelix morphology, Vesicoureteral reflux, Macrotia, High palate, Patellar aplasia, De... ORPHA:96061
Arnold-Chiari Malformation Type I
Stiff neck, Fused cervical vertebrae, Anteriorly placed odontoid process, Scoliosis, Cervical C2/... ORPHA:268882
Fg Syndrome Type 1
Plagiocephaly, Short stature, Mitral valve prolapse, Prominent occiput, Atrial septal defect, Cra... ORPHA:93932
Duplication Of Urethra
Urethral stricture, Hypertrophy of the urinary bladder, Septate vagina, Uterus didelphys, Vesicou... ORPHA:237
Brachytelephalangic Chondrodysplasia Punctata
Epiphyseal stippling of toe phalanges, Vertebral hypoplasia, Stippling of the epiphyses of the di... ORPHA:79345
Intellectual Developmental Disorder With Dysmorphic Facies, Seizures, And Distal Limb Anomalies
Brachycephaly, Ventricular septal defect, Short stature, Atrial septal defect, Flat occiput, Intr... OMIM:617452
Mirror Polydactyly-Vertebral Segmentation-Limbs Defects Syndrome
Vertebral segmentation defect ORPHA:3004
Frontonasal Dysplasia 2
Brachycephaly, Parietal foramina, Encephalocele, Calvarial skull defect, Craniosynostosis, Intrau... OMIM:613451
Koolen-De Vries Syndrome
Sacral dimple, Vertebral fusion, Kyphosis, Hip dislocation, Joint hypermobility, Pectus excavatum... OMIM:610443
Pontocerebellar Hypoplasia, Type 3
Brachycephaly, Short stature OMIM:608027
Achondrogenesis, Type Ia
Hypoplastic sacrum, Bell-shaped thorax, Short thorax, Short ribs, Broad clavicles, Narrow chest, ... OMIM:200600
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome
11 pairs of ribs, Esophageal atresia, Hypoplasia of penis, Abnormal vertebral morphology, Tracheo... ORPHA:77298
Spondyloepiphyseal Dysplasia-Craniosynostosis-Cleft Palate-Cataracts-Intellectual Disability Syndrome
Brachycephaly, Anterior plagiocephaly, Frontal bossing ORPHA:163649
Growth Delay-Hydrocephaly-Lung Hypoplasia Syndrome
Abnormal rib morphology, Abnormally ossified vertebrae ORPHA:3035
Inverted Duplicated Chromosome 15 Syndrome
Brachycephaly, Ventricular septal defect, Frontal bossing, Growth delay, Tetralogy of Fallot ORPHA:3306
Oeis Complex
Vesicovaginal fistula, Ambiguous genitalia, female, Bifid uterus, Absent scrotum, Pelvic kidney, ... OMIM:258040
Laurence-Moon Syndrome
Brachycephaly, Short stature ORPHA:2377
Osteogenesis Imperfecta, Type Viii
Recurrent fractures, Kyphosis, Joint laxity, Barrel-shaped chest, Multiple prenatal fractures, Sc... OMIM:610915
Dubowitz Syndrome
Sacral dimple, Abnormal antihelix morphology, Abnormality of female external genitalia, High pala... ORPHA:235
X-Linked Myotubular Myopathy-Abnormal Genitalia Syndrome
Penile hypospadias, High palate, Bifid scrotum, Penoscrotal hypospadias, Blind vagina, Cryptorchi... ORPHA:456328
Developmental And Epileptic Encephalopathy 110
Posterior plagiocephaly OMIM:620149
Thakker-Donnai Syndrome
Hemivertebrae, Short neck, Cervical C2/C3 vertebral fusion ORPHA:1780
Osteopathia Striata-Cranial Sclerosis Syndrome
Brachycephaly, Frontal bossing, Spina bifida occulta, Facial hyperostosis, Severe short stature, ... ORPHA:2780
Pierpont Syndrome
Brachycephaly ORPHA:487825
Hyperphosphatasia With Impaired Intellectual Development Syndrome 1
Sensorineural hearing impairment, Aganglionic megacolon, Anteriorly placed anus, Posteriorly rota... OMIM:239300
Gomez-Lopez-Hernandez Syndrome
Brachycephaly, Skull asymmetry, Turricephaly, Short stature, Midface retrusion, Craniosynostosis OMIM:601853
Acrocapitofemoral Dysplasia
Genu varum, Short ribs, Delayed ossification of carpal bones, Pectus excavatum, Cupped ribs, Ovoi... OMIM:607778
Vacterl Association With Hydrocephalus
Abnormality of the vertebral column, Abnormal vertebral morphology OMIM:276950
Holzgreve Syndrome
Abnormal rib morphology, Abnormally ossified vertebrae, Joint stiffness ORPHA:2167
Acrorenal-Mandibular Syndrome
Unicornuate uterus, High palate, Narrow palate, Abnormal sacral segmentation, Bicornuate uterus, ... OMIM:200980
Noonan Syndrome 13
Mitral valve prolapse, Plagiocephaly, Atrial septal defect OMIM:619087
Dysosteosclerosis
Short sternum, Increased susceptibility to fractures, Delayed closure of the anterior fontanelle,... OMIM:224300
Fragile X Syndrome
Congenital macroorchidism, Macrotia, Recurrent hand flapping, Pectus excavatum, Macroorchidism, p... OMIM:300624
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome
Atrioventricular canal defect, Plagiocephaly, Branchial anomaly, Ventricular septal defect, Bicus... ORPHA:453499
Osteogenesis Imperfecta, Type X
Genu valgum, Thoracic hypoplasia, Generalized joint laxity, Narrow chest, Multiple rib fractures,... OMIM:613848
Intellectual Developmental Disorder, Autosomal Dominant 36
Plagiocephaly OMIM:616362
Cutis Laxa, Autosomal Recessive, Type Iiia
Brachycephaly, Short stature, Frontal bossing, Intrauterine growth retardation, Umbilical hernia OMIM:219150
Intellectual Disability-Myopathy-Short Stature-Endocrine Defect Syndrome
Hyperlordosis, Limitation of joint mobility, Delayed skeletal maturation, Abnormal rib morphology... ORPHA:3068
Al Kaissi Syndrome
Brachycephaly, Short stature, Atrial septal defect, Intrauterine growth retardation, Postnatal gr... OMIM:617694
Frontofacionasal Dysplasia
Brachycephaly, Midface retrusion, Encephalocele, Short stature ORPHA:1791
Chopra-Amiel-Gordon Syndrome
Brachycephaly, Short stature, Midface retrusion, Postnatal growth retardation OMIM:619504
Renal Hypoplasia
Vesicoureteral reflux, Hydronephrosis, Abnormal renal cortex morphology, Renal insufficiency, Rec... ORPHA:93101
Lethal Hemolytic Anemia-Genital Anomalies Syndrome
Renal hypoplasia/aplasia, Hypospadias, Abnormality of the ureter, Hypoplasia of penis ORPHA:1046
Mucopolysaccharidosis, Type Ivb
Hyperlordosis, Genu valgum, Kyphosis, Prominent sternum, Ulnar deviation of the wrist, Hypoplasia... OMIM:253010
Lung Agenesis-Heart Defect-Thumb Anomalies Syndrome
Abnormal rib morphology, Vertebral segmentation defect ORPHA:1120
Intellectual Developmental Disorder, Autosomal Dominant 64
Plagiocephaly, Growth delay OMIM:619188
Spondyloepimetaphyseal Dysplasia, X-Linked, With Hypomyelinating Leukodystrophy
Flexion contracture, Anterior rib cupping, Prominent sternum, Thoracic kyphosis, Hypoplasia of th... OMIM:300232
Smith-Magenis Syndrome
Brachycephaly, Midface retrusion, Abnormal heart morphology, Short stature OMIM:182290
Clark-Baraitser Syndrome
Brachycephaly, Dolichocephaly OMIM:617752
Baller-Gerold Syndrome
Sagittal craniosynostosis, Patellar hypoplasia, Limited elbow movement, Patellar aplasia, Cranios... OMIM:218600
Richieri-Costa/Guion-Almeida Syndrome
Spina bifida occulta, Brachycephaly, Short stature OMIM:268850
Trisomy 20P
Brachycephaly, Plagiocephaly, Spina bifida, Dolichocephaly, Frontal bossing, Umbilical hernia ORPHA:261318
Acro-Renal-Mandibular Syndrome
Pectus carinatum, Kyphosis, Butterfly vertebrae, Hip dislocation, Short neck, Abnormal clavicle m... ORPHA:958
Noonan Syndrome With Multiple Lentigines
Brachycephaly, Atrioventricular canal defect, Abnormal mitral valve morphology, Short stature, Pu... ORPHA:500
Early-Onset Seizures-Distal Limb Anomalies-Facial Dysmorphism-Global Developmental Delay Syndrome
Brachycephaly, Ventricular septal defect, Short stature, Atrial septal defect, Flat occiput, Intr... ORPHA:505237
Microbrachycephaly-Ptosis-Cleft Lip Syndrome
Brachycephaly, Severe short stature, Flat occiput ORPHA:2511
Neurodevelopmental Disorder With Severe Motor Impairment, Absent Language, Cerebral Hypomyelination, And Brain Atrophy
Brachycephaly OMIM:619972
Fibrochondrogenesis 1
Anterior rib cupping, Thoracic hypoplasia, Joint contracture of the hand, Short ribs, Thin clavic... OMIM:228520
Frontometaphyseal Dysplasia
Camptodactyly of finger, Wrist flexion contracture, Limited elbow movement, Joint contracture of ... ORPHA:1826
Gm1-Gangliosidosis, Type I
Thickened ribs, Kyphosis, Hypoplastic vertebral bodies, Short neck, Scoliosis, Beaking of vertebr... OMIM:230500
Chromosome 1P36 Deletion Syndrome, Distal
Conductive hearing impairment, Abnormality of the anus, Bifid uvula, Dysphagia, Hearing impairmen... OMIM:607872
Intellectual Developmental Disorder, X-Linked, Syndromic, Snijders Blok Type
Brachycephaly, Dysplastic pulmonary valve OMIM:300958
Alagille Syndrome
Nephrotic syndrome, Butterfly vertebral arch, Vertebral segmentation defect, Renal hypoplasia/apl... ORPHA:52
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type
Flexion contracture, Fractured radius, Thoracic hypoplasia, Short ribs, Multiple rib fractures, M... OMIM:616897
Cat Eye Syndrome
Vesicoureteral reflux, Rectal fistula, Low-set ears, Volvulus, Renal agenesis, Anal atresia, Inte... OMIM:115470
Spastic Paraplegia, Intellectual Disability, Nystagmus, And Obesity
Brachycephaly, Plagiocephaly, Frontal bossing OMIM:617296
Three M Syndrome 2
Hyperlordosis, Short thorax, Lumbar hyperlordosis, Short neck, Delayed skeletal maturation, Scapu... OMIM:612921
Cornelia De Lange Syndrome 3 With Or Without Midline Brain Defects
Brachycephaly, Plagiocephaly, Ventricular septal defect, Short stature, Bicuspid aortic valve, At... OMIM:610759
Christianson Syndrome
Gastroesophageal reflux, Macrotia, Abnormal thorax morphology, Abnormal repetitive mannerisms, Pe... ORPHA:85278
Gorlin-Chaudhry-Moss Syndrome
Patent ductus arteriosus, Brachycephaly, Short stature, Coronal craniosynostosis, Umbilical hernia ORPHA:2095
Cornelia De Lange Syndrome 5
Brachycephaly, Short stature, Postnatal growth retardation OMIM:300882
Craniometadiaphyseal Dysplasia, Wormian Bone Type
Vertebral arch anomaly, Increased bone mineral density, Osteopenia, Broad ribs, Wormian bones ORPHA:85184
Diabetic Embryopathy
Hydronephrosis, Abnormal morphology of female internal genitalia, Microtia, Renal hypoplasia/apla... ORPHA:1926
Uruguay Faciocardiomusculoskeletal Syndrome
Ventricular hypertrophy, Brachyturricephaly, Hypertrophic cardiomyopathy, Cardiomyopathy OMIM:300280
Peutz-Jeghers Syndrome
Intussusception, Gastrointestinal carcinoma, Multiple gastric polyps, Uterine neoplasm, Abnormali... OMIM:175200
Intellectual Disability-Obesity-Brain Malformations-Facial Dysmorphism Syndrome
Brachycephaly ORPHA:352530
Williams-Beuren Region Duplication Syndrome
Patent ductus arteriosus, Brachycephaly, Hydrocephalus, Short stature OMIM:609757
Prune Belly Syndrome
Congenital posterior urethral valve, Hydroureter, Anal atresia, Pectus excavatum, Xerostomia, Cry... OMIM:100100
Desanto-Shinawi Syndrome
Brachycephaly, Midface retrusion OMIM:616708
Alkuraya-Kucinskas Syndrome
Pericardial effusion, Plagiocephaly OMIM:617822
Achondrogenesis, Type Ii
Horizontal ribs, Absent vertebral body mineralization, Barrel-shaped chest, Short ribs OMIM:200610
Chromosome 15Q11.2 Deletion Syndrome
Plagiocephaly, Abnormal heart morphology, Short stature OMIM:615656
Familial Osteodysplasia, Anderson Type
Increased susceptibility to fractures, Aplastic clavicle, Recurrent fractures, Kyphosis, Missing ... ORPHA:2769
Multiple Pterygium-Malignant Hyperthermia Syndrome
Midface retrusion, Plagiocephaly, Severe short stature, Dolichocephaly ORPHA:2215
Linear Nevus Sebaceus Syndrome
Plagiocephaly, Biparietal narrowing, Prominent occiput, Frontal bossing, Growth delay ORPHA:2612
Temtamy Preaxial Brachydactyly Syndrome
Plagiocephaly OMIM:605282
46,Xx Disorder Of Sex Development-Anorectal Anomalies Syndrome
Urogenital sinus anomaly, Multicystic kidney dysplasia, Renal hypoplasia/aplasia, Hydroureter, An... ORPHA:2973
4Q21 Microdeletion Syndrome
Kyphosis, Abnormal repetitive mannerisms, Short neck, Scoliosis, Low-set ears, Hearing impairment ORPHA:238750
Hyperphosphatasia-Intellectual Disability Syndrome
Brachycephaly, Plagiocephaly, Growth delay, Abnormal parietal bone morphology ORPHA:247262
Crouzon Syndrome
Brachycephaly, Sagittal craniosynostosis, Coronal craniosynostosis, Hydrocephalus, Midface retrus... OMIM:123500
Intellectual Developmental Disorder, Autosomal Dominant 58
Plagiocephaly, Short stature OMIM:618106
Mucolipidosis Iii Alpha/Beta
Short ribs, Craniosynostosis, Irregular carpal bones, Carpal bone hypoplasia, Scoliosis, Shallow ... OMIM:252600
Smith-Magenis Syndrome
Gastroesophageal reflux, Conductive hearing impairment, Precocious puberty, Renal hypoplasia/apla... ORPHA:819
Urofacial Syndrome 1
Recurrent urinary tract infections, Hydroureter, Cryptorchidism, Enuresis, Urethral valve, Urethr... OMIM:236730
Menkes Disease
Brachycephaly, Intrauterine growth retardation, Short stature OMIM:309400
Lujan-Fryns Syndrome
Brachycephaly, Atrial septal defect ORPHA:776
Kury-Isidor Syndrome
Brachycephaly, Ventricular septal defect, Growth delay, Frontal bossing OMIM:619762
Cantú Syndrome
Cuboid-shaped vertebral bodies, Accelerated skeletal maturation, Short neck, Ovoid vertebral bodi... ORPHA:1517
Congenital Osteogenesis Imperfecta-Microcephaly-Cataracts Syndrome
Abnormal rib morphology, Joint hyperflexibility, Decreased calvarial ossification, Recurrent frac... ORPHA:2772
Antley-Bixler Syndrome Without Genital Anomalies Or Disordered Steroidogenesis
Brachycephaly, Coronal craniosynostosis, Hydrocephalus, Midface retrusion, Atrial septal defect, ... OMIM:207410
Vacterl Association, X-Linked, With Or Without Hydrocephalus
Sacral dimple, Urethral atresia, Esophageal atresia, Enlarged kidney, Abnormal vertebral morpholo... OMIM:314390
Mitochondrial Dna Depletion Syndrome 13 (Encephalomyopathic Type)
Hypertrophic cardiomyopathy, Plagiocephaly, Growth delay OMIM:615471
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type
Thin ribs, Platyspondyly ORPHA:163966
2Q32Q33 Microdeletion Syndrome
Brachycephaly, Growth delay, Short stature ORPHA:251019
Microphthalmia With Cyst, Bilateral Facial Clefts, And Limb Anomalies
Ethmoidal encephalocele, Brachyturricephaly, Frontal bossing OMIM:607597
Achard Syndrome
Brachycephaly, Broad skull OMIM:100700
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly
Horizontal ribs, Ambiguous genitalia, Bifid tongue, Thoracic hypoplasia, Renal dysplasia, Short r... OMIM:613091
Neurodevelopmental Disorder With Intention Tremor, Pyramidal Signs, Dyspraxia, And Ocular Anomalies
Brachycephaly, Dextrotransposition of the great arteries, Ventricular septal defect, Short stature OMIM:619995
Bent Bone Dysplasia Syndrome 2
Short sternum, Hypoplastic acetabulae, Short ribs, Butterfly vertebrae, Short neck, Osteopenia, D... OMIM:620076
Microphthalmia, Lenz Type
Hyperlordosis, Kyphosis, Renal hypoplasia/aplasia, Hydroureter, Long thorax, External ear malform... ORPHA:568
Anophthalmia-Megalocornea-Cardiopathy-Skeletal Anomalies Syndrome
Dolichocephaly, Tricuspid valve prolapse, Plagiocephaly, Umbilical hernia ORPHA:1101
Pallister-Hall Syndrome
Ambiguous genitalia, Precocious puberty, Renal dysplasia, Hydrometrocolpos, Bifid uvula, Cleft pa... ORPHA:672
Developmental And Epileptic Encephalopathy 84
Plagiocephaly OMIM:618792
Spondylometaphyseal Dysplasia, Algerian Type
Genu valgum, Anterior rib cupping, Carpal bone hypoplasia, Kyphoscoliosis, Platyspondyly, Lumbar ... OMIM:184253
Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities
Brachycephaly, Hydrocephalus, Short stature OMIM:109120
Neurofaciodigitorenal Syndrome
Brachycephaly, Plagiocephaly, Intrauterine growth retardation, Short stature ORPHA:2673
Campomelia, Cumming Type
Abnormal rib morphology, Abnormal thorax morphology, Abnormally ossified vertebrae ORPHA:1318
Contractural Arachnodactyly, Congenital
Patent ductus arteriosus, Brachycephaly, Scaphocephaly, Ventricular septal defect, Bicuspid aorti... OMIM:121050
Chromosome 13Q33-Q34 Deletion Syndrome
Patent ductus arteriosus, Brachycephaly, Encephalocele, Short stature, Anencephaly, Left ventricu... OMIM:619148
Metaphyseal Dysostosis, Impaired Intellectual Development, And Conductive Deafness
Genu varum, Genu valgum, Short ribs, Irregular chondrocostal junctions, Joint laxity, Carpal bone... OMIM:250420
Restrictive Dermopathy 2
Short clavicles, Gastroesophageal reflux, Rectal prolapse OMIM:619793
Waardenburg Syndrome, Type 1
Sprengel anomaly, Supernumerary vertebrae, Supernumerary ribs OMIM:193500