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
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
Short neck, Vertebral clefting, Rib fusion, Hemivertebrae, Vertebral segmentation defect OMIM:608681
Spondylocostal Dysostosis 3, Autosomal Recessive
Contracture of the proximal interphalangeal joint of the 2nd finger, Kyphosis, Hypoplasia of the ... OMIM:609813
Spondylocostal Dysostosis 1, Autosomal Recessive
Back pain, Vertebral fusion, Block vertebrae, Abnormal odontoid process morphology, Kyphoscoliosi... OMIM:277300
Spondylocostal Dysostosis 5
Vertebral fusion, Low back pain, Missing ribs, Short neck, Hemivertebrae, Pectus carinatum, Poste... OMIM:122600
Microcephaly With Cervical Spine Fusion Anomalies
Vertebral fusion, Spinal instability OMIM:251250
Posterior Fusion Of Lumbosacral Vertebrae-Blepharoptosis Syndrome
Sacral dimple, Tarsal synostosis, Joint stiffness, Abnormal form of the vertebral bodies, Posteri... ORPHA:2064
Vertebral Fusion, Posterior Lumbosacral, With Blepharoptosis
Posterior fusion of lumbosacral vertebrae OMIM:192800
Dwarfism With Tall Vertebrae
Increased vertebral height OMIM:126950
Autosomal Dominant Spondylocostal Dysostosis
Short neck, Missing ribs, Hyperlordosis, Abnormal sacrum morphology, Short thorax, Abnormal rib m... ORPHA:1797
Diaphanospondylodysostosis
Short neck, Missing ribs, Short thorax, Enlarged thorax, Absent or minimally ossified vertebral b... ORPHA:66637
Poland Syndrome
Sprengel anomaly, Rib fusion, Short ribs, Hemivertebrae OMIM:173800
Primary Basilar Invagination
Abnormality of the cervical spine, Abnormal vertebral morphology, Short neck ORPHA:2285
Klippel-Feil Syndrome 3, Autosomal Dominant
Thoracic scoliosis, Cervical C3/C4 vertebral fusion, Cervical C5/C6 vertebrae fusion OMIM:613702
Cervical Vertebral Dysplasia
Cervical vertebral dysplasia, Cervical vertebral facet hypoplasia, Anterior atlanto-occipital dis... OMIM:118005
Radioulnar Synostosis-Microcephaly-Scoliosis Syndrome
Delayed skeletal maturation, Abnormality of the elbow, Abnormal rib morphology, Pectus carinatum,... ORPHA:3268
Spondylocostal Dysostosis 4, Autosomal Recessive
Vertebral fusion, Abnormal odontoid process morphology, Block vertebrae, Missing ribs, Pectus exc... OMIM:613686
Cardioneuromyopathy With Hyaline Masses And Nemaline Rods
Fusion of midcervical facet joints, Widening of cervical spinal canal, Cervical vertebral bodies ... OMIM:606842
Galactosialidosis
Abnormality of the vertebral column, Abnormal vertebral morphology ORPHA:351
Brachyolmia, Maroteaux Type
Pectus excavatum, Short thorax, Abnormal form of the vertebral bodies, Platyspondyly, Scoliosis ORPHA:93302
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 3
Vertebral fusion, Sacral dimple, Short thorax, Vertebral segmentation defect OMIM:618845
Multiple Synostoses Syndrome 2
Vertebral fusion, Tarsal synostosis, Humeroradial synostosis, Finger symphalangism, Proximal symp... OMIM:610017
Spondyloepiphyseal Dysplasia Tarda, Kohn Type
Abnormality of the knee, Restricted large joint movement, Platyspondyly, Abnormality of the ankle... ORPHA:163665
X-Linked Skeletal Dysplasia-Intellectual Disability Syndrome
Fused cervical vertebrae, Abnormal sacrum morphology, Thoracic hemivertebrae, Scoliosis ORPHA:1436
Spondylometaphyseal Dysplasia, Corner Fracture Type
Ovoid vertebral bodies, Hypoplasia of the odontoid process, Pectus carinatum, Hyperconvex vertebr... OMIM:184255
Isolated Klippel-Feil Syndrome
Short neck, Abnormal sacrum morphology, Abnormal rib morphology, Abnormal shoulder morphology, Ab... ORPHA:2345
Klippel-Feil Syndrome 2, Autosomal Recessive
Short neck, Fused cervical vertebrae, Scoliosis, Cervical C2/C3 vertebral fusion, Sprengel anomaly OMIM:214300
Wildervanck Syndrome
Fused cervical vertebrae OMIM:314600
Becker Nevus Syndrome
Pectus excavatum, Kyphosis, Rib fusion, Pectus carinatum, Supernumerary ribs, Scoliosis, Spina bi... ORPHA:64755
Cleidocranial Dysplasia, Recessive Form
Severe short stature, Brachycephaly OMIM:216330
Acromesomelic Dysplasia, Maroteaux Type
Ovoid vertebral bodies, Hyperlordosis, Joint stiffness, Kyphosis, Abnormal form of the vertebral ... ORPHA:40
Contractures, Pterygia, And Spondylocarpotarsal Fusion Syndrome 1B
Fused thoracic vertebrae, Tarsal synostosis, Short neck, Flexion contracture, Antecubital pterygi... OMIM:618469
Femoral-Facial Syndrome
Short femur, Renal hypoplasia/aplasia, Abnormal sacrum morphology, Long penis, Abnormal rib morph... ORPHA:1988
Mental Retardation, Skeletal Dysplasia, And Abducens Palsy
Fused cervical vertebrae, Prominent metopic ridge, Thoracic hemivertebrae, Scoliosis OMIM:309620
Osteoarthritis With Mild Chondrodysplasia
Heberden's node, Joint stiffness, Knee osteoarthritis, Schmorl's node, Irregular vertebral endpla... OMIM:604864
Autosomal Dominant Brachyolmia
Increased vertebral height, Platyspondyly, Short thorax, Kyphoscoliosis ORPHA:93304
Osteomesopyknosis
Increased bone mineral density, Sclerotic vertebral body, Kyphosis, Abnormal form of the vertebra... ORPHA:2777
Autosomal Recessive Spondylocostal Dysostosis
Rib segmentation abnormalities, Abnormal intervertebral disk morphology, Camptodactyly of finger,... ORPHA:2311
Heart Defects-Limb Shortening Syndrome
Accelerated skeletal maturation, Kyphosis, Abnormal rib morphology, Abnormal form of the vertebra... ORPHA:1354
Neural Tube Defects, Folate-Sensitive
Spinal dysraphism OMIM:601634
Sprengel Deformity
Rib segmentation abnormalities, Cervical segmentation defect, Hemivertebrae, Scoliosis, Sprengel ... OMIM:184400
Endosteal Hyperostosis, Worth Type
Sclerotic vertebral body, Generalized osteosclerosis, Abnormal rib morphology, Abnormal form of t... ORPHA:2790
Kyphomelic Dysplasia
Anterior rib cupping, Missing ribs, Lateral clavicle hook, Joint stiffness, Short thorax, Limitat... ORPHA:1801
Spondylocostal Dysostosis With Anal Atresia And Urogenital Anomalies
Vertebral fusion, Block vertebrae, Short neck, Missing ribs, Rib fusion, Hemivertebrae, Thin ribs... OMIM:271520
Spondylocostal Dysostosis 6, Autosomal Recessive
Cervical kyphosis, Hemivertebrae, Spinal canal stenosis, Scoliosis, Butterfly vertebrae OMIM:616566
Spondyloepiphyseal Dysplasia Tarda, Autosomal Recessive, Leroy-Spranger Type
Lumbar hyperlordosis, Decreased hip abduction, Pectus carinatum, Genu valgum, Irregular vertebral... OMIM:609223
X-Linked Intellectual Disability-Plagiocephaly Syndrome
Plagiocephaly, Flat occiput, Brachycephaly ORPHA:2898
Familial Congenital Mirror Movements
Fused cervical vertebrae ORPHA:238722
Symbrachydactyly Of Hands And Feet
Vertebral segmentation defect, Abnormality of the humeroulnar joint, Scoliosis ORPHA:1570
Second Metatarsal-Metacarpal Syndrome
Platyspondyly, Synostosis of carpals/tarsals OMIM:269630
Sporadic Fetal Brain Disruption Sequence
Prominent occiput, Plagiocephaly ORPHA:1665
Developmental And Speech Delay Due To Sox5 Deficiency
Thoracic kyphoscoliosis, Vertebral fusion, Lumbar hyperlordosis, Pectus carinatum, Scoliosis, But... ORPHA:313892
Cleft Palate-Short Stature-Vertebral Anomalies Syndrome
Abnormal vertebral morphology, Short neck ORPHA:2015
Keratoconus Posticus Circumscriptus
Limited elbow extension and supination, Abnormal vertebral segmentation and fusion, Short neck OMIM:244600
Spondylometaphyseal Dysplasia, A4 Type
Platyspondyly, Limitation of joint mobility, Flared, irregular rib ends ORPHA:168555
Kuskokwim Syndrome
Abnormal clavicle morphology, Aplasia/Hypoplasia of the patella, Joint stiffness, Abnormal form o... ORPHA:1149
Contractures, Pterygia, And Spondylocarpotarsal Fusion Syndrome 1A
Barrel-shaped chest, Vertebral fusion, Hip contracture, Elbow contracture, Multiple pterygia, Sho... OMIM:178110
Brachydactyly, Type B1
Vertebral fusion, Hypoplastic sacrum, Thoracolumbar scoliosis, Hemivertebrae, Camptodactyly, Join... OMIM:113000
Microcephaly-Cervical Spine Fusion Anomalies Syndrome
Abnormal clavicle morphology, Hyperlordosis, Pectus excavatum, Short neck, Kyphosis, Abnormal rib... ORPHA:2522
Klippel-Feil Syndrome 1, Autosomal Dominant
Short neck, Abnormal rib morphology, Scoliosis, Cervical C2/C3 vertebral fusion, Sprengel anomaly... OMIM:118100
Osteogenesis Imperfecta, Type Ix
Recurrent fractures, Beaded ribs, Pectus excavatum, Kyphosis, Multiple prenatal fractures, Pectus... OMIM:259440
Mesomelic Dysplasia, Kantaputra Type
Camptodactyly of finger, Tarsal synostosis, Abnormal rib morphology, Vertebral segmentation defec... ORPHA:1836
Cerebrofaciothoracic Dysplasia
Short neck, Rib fusion, Hemivertebrae, Vertebral segmentation defect, Narrow chest, Bifid ribs, S... ORPHA:1394
Lower Limb Malformation-Hypospadias Syndrome
Low-set, posteriorly rotated ears, Sacral dimple, Hypospadias, Short neck, Abnormal tibia morphol... ORPHA:2487
Acropectorovertebral Dysplasia
Capitate-hamate fusion, Abnormal thorax morphology, Spina bifida occulta at S1, Spina bifida occu... OMIM:102510
Metatropic Dysplasia
Abnormal intervertebral disk morphology, Camptodactyly of finger, Abnormal enchondral ossificatio... ORPHA:2635
Wildervanck Syndrome
Fused cervical vertebrae, Short neck ORPHA:3456
Proximal 16P11.2 Microdeletion Syndrome
Multicystic kidney dysplasia, Pyloric stenosis, Sensorineural hearing impairment, Abnormal repeti... ORPHA:261197
Neurodevelopmental Disorder With Nonspecific Brain Abnormalities And With Or Without Seizures
Abnormal vertebral morphology OMIM:618709
Acrodysplasia Scoliosis
Vertebral segmentation defect, Spina bifida occulta, Scoliosis ORPHA:2956
Fibrodysplasia Ossificans Progressiva
Spinal rigidity, Limitation of joint mobility, Ectopic ossification in ligament tissue, Ectopic o... ORPHA:337
Maternal Uniparental Disomy Of Chromosome 9
Kyphoscoliosis, Short neck, Hamstring contractures, Patellar dislocation, Osteochondrosis, Abnorm... ORPHA:96183
Congenital Amegakaryocytic Thrombocytopenia
Decreased skull ossification, Scoliosis, Abnormal form of the vertebral bodies, Short neck ORPHA:3319
Epiphyseal Dysplasia, Multiple, 6
Abnormality of the knee, Osteoarthritis, Schmorl's node, Irregular vertebral endplates, Intervert... OMIM:614135
Multiple Pterygium Syndrome, X-Linked
Joint dislocation, Vertebral fusion, Abnormal cervical curvature, Multiple pterygia, Flexion cont... OMIM:312150
Ring Chromosome 21 Syndrome
Fused thoracic vertebrae, Thoracic hemivertebrae, Abnormal thorax morphology, Scoliosis ORPHA:1445
Craniosynostosis 6
Turricephaly, Craniosynostosis, Parietal foramina, Brachycephaly, Plagiocephaly, Right unilambdoi... OMIM:616602
Mayer-Rokitansky-Küster-Hauser Syndrome Type 2
Vertebral segmentation defect, Abnormal rib morphology, Short neck ORPHA:2578
Congenital Disorder Of Glycosylation, Type Iig
Thoracic scoliosis, Short neck, Glossoptosis, Vertebral segmentation defect, High palate, Conduct... OMIM:611209
Global Developmental Delay With Or Without Impaired Intellectual Development
Frontal bossing, Ventricular septal defect, Short stature, Plagiocephaly, Atrial septal defect OMIM:618330
Dysspondyloenchondromatosis
Joint dislocation, Enlarged joints, Kyphoscoliosis, Osteoarthritis, Generalized joint laxity, Del... ORPHA:85198
Kleefstra Syndrome 2
Plagiocephaly, Growth delay, Midface retrusion OMIM:617768
Hypogonadism, Male, With Mental Retardation And Skeletal Anomalies
Superior rib anomalies, Abnormality of the cervical spine OMIM:307500
Pontine Tegmental Cap Dysplasia
Ankle clonus, Rib fusion, Hemivertebrae, Scoliosis OMIM:614688
Multiple Pterygium Syndrome, Lethal Type
Joint dislocation, Vertebral fusion, Abnormal cervical curvature, Multiple pterygia, Flexion cont... OMIM:253290
Multiple Epiphyseal Dysplasia, Al-Gazali Type
Enlarged joints, Pectus excavatum, Delayed epiphyseal ossification, Genu valgum, Abnormal vertebr... ORPHA:166024
Gómez-López-Hernández Syndrome
Turricephaly, Short stature, Hydrocephalus, Brachycephaly, Midface retrusion ORPHA:1532
Becker Nevus Syndrome
Pectus excavatum, Cervical ribs, Hemivertebrae, Scoliosis OMIM:604919
Spondylometaphyseal Dysplasia, Type A4
Ovoid vertebral bodies, Enlargement of the costochondral junction, Flat acetabular roof, Pectus c... OMIM:609052
Kbg Syndrome
Vertebral fusion, Persistent open anterior fontanelle, Short neck, Delayed skeletal maturation, C... ORPHA:2332
Pentasomy X
Plagiocephaly, Abnormal cardiac septum morphology, Short stature, Delayed puberty ORPHA:11
Congenital Muscular Dystrophy, Fukuyama Type
Dilated cardiomyopathy, Brachycephaly, Plagiocephaly, Dolichocephaly, Intrauterine growth retarda... ORPHA:272
Multiple Pterygium Syndrome, Escobar Variant
Multiple joint contractures, Short neck, Flexion contracture, Knee flexion contracture, Intercrur... OMIM:265000
Prune Belly Syndrome
Renal insufficiency, Multicystic kidney dysplasia, Recurrent urinary tract infections, Hydrourete... ORPHA:2970
Osteogenesis Imperfecta, Type Xv
Recurrent fractures, Thin ribs, Platyspondyly, Bowing of limbs due to multiple fractures, Scolios... OMIM:615220
Thoracolaryngopelvic Dysplasia
Irregular chondrocostal junctions, Bell-shaped thorax, Irregular vertebral endplates, Short ribs,... OMIM:187760
Autism, Susceptibility To, X-Linked 2
Plagiocephaly OMIM:300495
Corpus Callosum Agenesis-Macrocephaly-Hypertelorism Syndrome
Plagiocephaly ORPHA:459074
Bruck Syndrome 1
Joint laxity, Hip contracture, Protrusio acetabuli, Ankle flexion contracture, Kyphosis, Osteopor... OMIM:259450
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
Vertebral fusion, Elbow contracture, Hyperlordosis, Kyphosis, Achilles tendon contracture, Scoliosis OMIM:606612
Postaxial Polydactyly-Dental And Vertebral Anomalies Syndrome
Vertebral fusion, Elbow dislocation, Kyphosis, Hemivertebrae, Abnormal form of the vertebral bodi... ORPHA:2916
Mayer-Rokitansky-Küster-Hauser Syndrome
Vertebral fusion, Abnormal sacrum morphology, Abnormal form of the vertebral bodies, Vertebral se... ORPHA:3109
Spondylosis, Cervical
Osteoarthritis, Cervical spondylosis, Spondylolysis, Spina bifida occulta, Spondylolisthesis OMIM:184300
Male Hypergonadotropic Hypogonadism-Intellectual Disability-Skeletal Anomalies Syndrome
Short neck, Abnormal rib morphology, Hemivertebrae, Abnormal form of the vertebral bodies, Abnorm... ORPHA:2234
Gorlin Syndrome
Vertebral fusion, Vertebral wedging, Hemivertebrae, Scoliosis ORPHA:377
Radiohumeral Fusions With Other Skeletal And Craniofacial Anomalies
Occipital encephalocele, Brachycephaly, Craniosynostosis OMIM:614416
Osteogenesis Imperfecta, Type Vi
Joint laxity, Protrusio acetabuli, Vertebral compression fracture, Increased susceptibility to fr... OMIM:613982
Spinal Dysplasia, Anhalt Type
Osteoarthritis of the small joints of the hand, Thoracolumbar scoliosis, Absent spinous processes... OMIM:601344
Humero-Radio-Ulnar Synostosis
Aplasia/Hypoplasia of the thumb, Abnormality of the upper urinary tract, Abnormal thumb morpholog... ORPHA:3266
Neurogenic Thoracic Outlet Syndrome
Abnormal rib morphology ORPHA:100073
Neurodevelopmental Disorder With Dysmorphic Facies And Variable Seizures
Plagiocephaly, Frontal bossing OMIM:619264
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 5
Vertebral fusion, Hyperlordosis, Kyphosis, Achilles tendon contracture, Scoliosis OMIM:607155
Non-Syndromic Bicoronal Craniosynostosis
Brachycephaly, Midface retrusion ORPHA:35099
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
Otopalatodigital Syndrome Type 1
Increased bone mineral density, Elbow dislocation, Limitation of joint mobility, Abnormal vertebr... ORPHA:90650
Spondyloepiphyseal Dysplasia Tarda, Autosomal Dominant
Barrel-shaped chest, Lumbar hyperlordosis, Kyphoscoliosis, Short neck, Avascular necrosis of the ... OMIM:184100
Greenberg Dysplasia
Abnormally ossified vertebrae, Abnormal pelvis bone ossification, Anterior rib punctate calcifica... ORPHA:1426
Kniest Dysplasia
Arthropathy, Enlarged joints, Short neck, Joint stiffness, Hypoplasia of the odontoid process, De... ORPHA:485
Metatropic Dysplasia
Enlarged joints, Flexion contracture, Long coccyx, Narrow chest, Flaring of rib cage, Anisospondy... OMIM:156530
Craniofacial Dyssynostosis With Short Stature
Frontal bossing, Ventricular septal defect, Short stature, Patent ductus arteriosus, Hydrocephalu... OMIM:218350
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 3
Joint laxity, Short neck, Multiple joint dislocation, Hip dislocation, Thin ribs, Irregular verte... OMIM:618395
Spondylometaphyseal Dysplasia, 'Corner Fracture' Type
Short neck, Pectus carinatum, Reduced bone mineral density, Abnormal bone ossification, Abnormal ... ORPHA:93315
Cebalid Syndrome
Turricephaly, Platystencephaly, Brachycephaly, Plagiocephaly, Dolichocephaly, Midface retrusion OMIM:618774
Bryant-Li-Bhoj Neurodevelopmental Syndrome 2
Frontal bossing, Bicuspid aortic valve, Short stature, Brachycephaly, Plagiocephaly, Hypoplastic ... OMIM:619721
Myotonia With Skeletal Abnormalities And Mental Retardation
Kyphoscoliosis, Vertebral wedging, Genu valgum, Bell-shaped thorax, Pectus carinatum OMIM:255710
Autosomal Recessive Multiple Pterygium Syndrome
Camptodactyly of finger, Multiple pterygia, Pectus excavatum, Limitation of joint mobility, Rib f... ORPHA:2990
Verheij Syndrome
Joint laxity, Vertebral fusion, Short neck, Hemivertebrae, Hip dislocation, Scoliosis OMIM:615583
Spondyloepimetaphyseal Dysplasia, Irapa Type
Lumbar hyperlordosis, Hypoplastic sacrum, Enlargement of the costochondral junction, Osteoarthrit... OMIM:271650
Spondylometaphyseal Dysplasia, Axial
Anterior rib cupping, Platyspondyly, Narrow chest, Scoliosis, Thoracic hypoplasia OMIM:602271
Severe Intellectual Disability-Epilepsy-Anal Anomalies-Distal Phalangeal Hypoplasia
Plagiocephaly, Ventricular septal defect ORPHA:94066
Microphthalmia, Syndromic 3
Vertebral fusion, Missing ribs, Rib fusion, Hemivertebrae, Supernumerary ribs, Butterfly vertebra... OMIM:206900
Intellectual Developmental Disorder With Behavioral Abnormalities And Craniofacial Dysmorphism With Or Without Seizures
Plagiocephaly OMIM:618725
Spondyloepimetaphyseal Dysplasia, Irapa Type
Osteoarthritis, Limitation of joint mobility, Abnormal rib morphology, Abnormal carpal morphology... ORPHA:93351
Pallister-Hall Syndrome
Ectopic kidney, Hemivertebrae, Renal cyst, Anteriorly placed anus, Micropenis, Distal shortening ... OMIM:146510
Lamb-Shaffer Syndrome
Fused cervical vertebrae, Thoracic kyphosis, Scoliosis ORPHA:530983
Stapes Ankylosis With Broad Thumbs And Toes
Fused cervical vertebrae, Proximal/middle symphalangism of 5th finger OMIM:184460
Axial Mesodermal Dysplasia Spectrum
Renal hypoplasia/aplasia, Missing ribs, Short neck, Anorectal anomaly, Abnormality of the ureter,... ORPHA:1834
Alkaptonuria
Arthropathy, Vertebral fusion, Low back pain, Kyphosis, Limited shoulder movement, Arthritis, Lim... OMIM:203500
Lessel-Kreienkamp Syndrome
Frontal bossing, Bicuspid aortic valve, Scaphocephaly, Plagiocephaly, Pulmonic stenosis, Atrial s... OMIM:619149
Crouzon Syndrome With Acanthosis Nigricans
Hydrocephalus, Brachycephaly, Craniosynostosis, Midface retrusion OMIM:612247
Osteosclerosis-Developmental Delay-Craniosynostosis Syndrome
Thickened calvaria, Brachycephaly, Craniosynostosis ORPHA:178377
Neurodevelopmental Disorder With Structural Brain Anomalies And Dysmorphic Facies
Plagiocephaly, Unilambdoid synostosis, Brachycephaly, Midface retrusion OMIM:618577
Kbg Syndrome
Vertebral fusion, Short neck, Delayed skeletal maturation, Rib fusion, Vertebral arch anomaly, Ce... OMIM:148050
Axin2-Related Attenuated Familial Adenomatous Polyposis
Neoplasm of the rectum, Colorectal polyposis, Adenomatous colonic polyposis, Colon cancer ORPHA:401911
Microcephaly-Microcornea Syndrome, Seemanova Type
Growth delay, Short stature, Brachycephaly ORPHA:2528
Lethal Congenital Contracture Syndrome Type 1
Recurrent fractures, Short neck, Limitation of joint mobility, Abnormal rib morphology, Abnormali... ORPHA:1486
Intellectual Developmental Disorder, X-Linked, Syndromic 12
Postnatal growth retardation, Brachycephaly OMIM:309545
Fibrodysplasia Ossificans Progressiva
Small cervical vertebral bodies, Progressive cervical vertebral spine fusion, Ectopic ossificatio... OMIM:135100
Fetal Trimethadione Syndrome
Ventricular septal defect, Brachycephaly, Transposition of the great arteries, Atrial septal defe... ORPHA:1913
Neurogenic Arthrogryposis Multiplex Congenita
Plagiocephaly, Scaphocephaly, Abnormal heart morphology ORPHA:1143
Chromosome 3Q29 Deletion Syndrome
Hyperactivity, Posteriorly rotated ears, Tapered finger, Pectus excavatum, Long fingers, Aggressi... OMIM:609425
Adenylosuccinate Lyase Deficiency
Flat occiput, Brachycephaly ORPHA:46
Robinow Syndrome, Autosomal Recessive 1
Short neck, Hemivertebrae, Nephrocalcinosis, Short palm, Thoracic hemivertebrae, Micropenis, Dupl... OMIM:268310
Dihydropyrimidinase Deficiency
Plagiocephaly, Growth delay OMIM:222748
Mosaic Trisomy 14
Low-set, posteriorly rotated ears, Hypoplasia of penis, Hypospadias, Camptodactyly of finger, Sho... ORPHA:1703
Craniofacial Dysmorphism, Skeletal Anomalies, And Impaired Intellectual Development Syndrome 1
Beaking of vertebral bodies, Vertebral fusion, Sacral dimple, Hyperextensibility of the finger jo... OMIM:213980
Aarskog-Scott Syndrome
Genu recurvatum, Camptodactyly of finger, Short neck, Pectus excavatum, Joint hyperflexibility, A... ORPHA:915
Ritscher-Schinzel Syndrome 1
Ventricular septal defect, Hydrocephalus, Double outlet right ventricle, Brachycephaly, Prominent... OMIM:220210
Visceral Myopathy 2
Intestinal obstruction, Necrotizing enterocolitis, Intestinal pseudo-obstruction, Intestinal malr... OMIM:619350
Chronic Recurrent Multifocal Osteomyelitis 2, With Periostitis And Pustulosis
Osteopenia, Osteomyelitis, Osteolysis, Fused cervical vertebrae, Joint swelling, Flaring of rib c... OMIM:612852
Paternal Uniparental Disomy Of Chromosome 5
Secundum atrial septal defect, Posterior plagiocephaly, Rhizomelic arm shortening ORPHA:96190
Spina Bifida-Hypospadias Syndrome
Spina bifida, Spinal dysraphism ORPHA:3176
Spastic Paraplegia-Intellectual Disability-Nystagmus-Obesity Syndrome
Plagiocephaly ORPHA:521390
Arthrogryposis, Cleft Palate, Craniosynostosis, And Impaired Intellectual Development
Short stature, Craniosynostosis, Plagiocephaly, Decreased calvarial ossification, Trigonocephaly OMIM:618265
Caudal Regression Syndrome
Missing ribs, Joint stiffness, Aplasia/Hypoplasia of the sacrum, Hypoplastic vertebral bodies, Sc... ORPHA:3027
Phocomelia-Ectrodactyly, Ear Malformation, Deafness, And Sinus Arrhythmia
Long clavicles, Lateral clavicle hook, Elbow dislocation, Anterior vertebral fusion, Shoulder dis... OMIM:171480
Aicardi Syndrome
Block vertebrae, Missing ribs, Rib fusion, Supernumerary ribs, Scoliosis, Bifid ribs, Butterfly v... ORPHA:50
Asperger Syndrome, Susceptibility To, 1
Restrictive behavior, Abnormal repetitive mannerisms, Inflexible adherence to routines OMIM:608638
Asperger Syndrome, Susceptibility To, 2
Restrictive behavior, Abnormal repetitive mannerisms, Inflexible adherence to routines OMIM:608631
Spondylomegaepiphyseal Dysplasia With Upper Limb Mesomelia, Punctate Calcifications, And Deafness
Lumbar hyperlordosis, Cupped ribs, Flat acetabular roof, Irregular vertebral endplates, Platyspon... OMIM:609616
Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency
Ventricular septal defect, Short stature, Brachycephaly, Abnormal heart morphology, Plagiocephaly... ORPHA:369891
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome
Abnormal clavicle morphology, Short neck, Abnormal rib morphology, Platyspondyly, Narrow chest, D... ORPHA:93267
Spondylocarpotarsal Synostosis Syndrome
Vertebral fusion, Scapular winging, Block vertebrae, Tarsal synostosis, Short neck, Hyperlordosis... OMIM:272460
Intellectual Developmental Disorder, Autosomal Dominant 48
Ventricular septal defect, Bicuspid aortic valve, Plagiocephaly, Umbilical hernia, Intrauterine g... OMIM:617751
Autism, Susceptibility To, X-Linked 3
Restrictive behavior, Abnormal repetitive mannerisms, Inflexible adherence to routines OMIM:300496
Autism, Susceptibility To, X-Linked 1
Restrictive behavior, Abnormal repetitive mannerisms, Inflexible adherence to routines OMIM:300425
Rhizomelic Limb Shortening With Dysmorphic Features
Plagiocephaly, Rhizomelia, Patent foramen ovale OMIM:618821
Frontometaphyseal Dysplasia 1
Scapular winging, Dislocated radial head, Limited elbow movement, Interphalangeal joint contractu... OMIM:305620
Chromosome 3Q13.31 Deletion Syndrome
Plagiocephaly, Brachycephaly, Dolichocephaly OMIM:615433
Intellectual Developmental Disorder With Speech Delay, Autism, And Dysmorphic Facies
Prominent occiput, Plagiocephaly, Brachycephaly, Dolichocephaly OMIM:618672
Ring Chromosome 8 Syndrome
Deviation of finger, Abnormality of the ureter, Hydronephrosis, Round ear ORPHA:1450
Septopreoptic Holoprosencephaly
Abnormal rib morphology, Abnormal vertebral morphology ORPHA:280195
Band Heterotopia
Plagiocephaly OMIM:600348
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 2
11 pairs of ribs, Vertebral segmentation defect, Hemivertebrae, Narrow chest OMIM:617661
Intellectual Developmental Disorder, X-Linked, Syndromic, Wu Type
Short stature, Brachycephaly OMIM:300699
Cervical Ribs, Sprengel Anomaly, Anal Atresia, And Urethral Obstruction
Thoracolumbar scoliosis, Preaxial hand polydactyly, Renal hypoplasia, 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
Impaired Intellectual Development And Distinctive Facial Features With Or Without Cardiac Defects
Frontal bossing, Brachycephaly, Plagiocephaly, Transposition of the great arteries, Patent forame... OMIM:616789
Coffin-Siris Syndrome 6
Atrial septal defect, Frontal bossing, Plagiocephaly, Short stature OMIM:617808
Hydrocephalus-Costovertebral Dysplasia-Sprengel Anomaly Syndrome
Abnormal rib morphology, Hemivertebrae, Abnormal form of the vertebral bodies, Scoliosis, Sprenge... ORPHA:2180
Microcephaly-Corpus Callosum And Cerebellar Vermis Hypoplasia-Facial Dysmorphism-Intellectual Disability Syndrom
Ventricular septal defect, Bicuspid aortic valve, Abnormal heart morphology, Plagiocephaly, Umbil... ORPHA:500159
Autism
Restrictive behavior, Abnormal repetitive mannerisms, Inflexible adherence to routines OMIM:209850
Autism, Susceptibility To, 8
Restrictive behavior, Abnormal repetitive mannerisms, Inflexible adherence to routines OMIM:607373
Non-Distal Duplication 10Q
Frontal bossing, Short stature, Brachycephaly ORPHA:1695
Ehlers-Danlos Syndrome, Classic-Like, 2
Osteopenia, Thoracic scoliosis, Short neck, Facet joint arthrosis, Osteoarthritis, Generalized jo... OMIM:618000
Fibrochondrogenesis 2
Cupped ribs, Bell-shaped thorax, Platyspondyly, Short ribs, Thoracic hypoplasia OMIM:614524
Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 2
Plagiocephaly, Frontal bossing, Brachycephaly, Intrauterine growth retardation OMIM:616801
Aicardi Syndrome
Block vertebrae, Missing ribs, Hemivertebrae, Rib fusion, Supernumerary ribs, Bifid ribs, Scolios... OMIM:304050
Smith-Magenis syndrome
Hyperactivity, Abnormal repetitive mannerisms, Self-mutilation, Brachydactyly DECIPHER:8
Cog1-Cdg
Osteopenia, Irregularity of vertebral bodies, Kyphoscoliosis, Short neck, Rib fusion, Posterior r... ORPHA:263508
Laryngotracheoesophageal Cleft Type 4
Abnormal rib morphology, Abnormal form of the vertebral bodies ORPHA:93941
Summitt Syndrome
Plagiocephaly, Craniosynostosis ORPHA:3210
Global Developmental Delay-Alopecia-Macrocephaly-Facial Dysmorphism-Structural Brain Anomalies Syndrome
Sacral dimple, Tapered toe, Tapered finger, Celiac disease, Aggressive behavior, Sensorineural he... ORPHA:544488
Houge-Janssens Syndrome 3
Frontal bossing, Muscular ventricular septal defect, Plagiocephaly, Atrial septal defect, Umbilic... OMIM:618354
Autosomal Recessive Robinow Syndrome
Hypoplasia of penis, Short neck, Pectus carinatum, Vertebral segmentation defect, Clinodactyly of... ORPHA:1507
Mosaic Trisomy 20
Vertebral fusion, Down-sloping shoulders, Kyphosis, Spinal canal stenosis, Fused cervical vertebr... ORPHA:1724
Juberg-Hayward Syndrome
Abnormality of the elbow, Abnormal rib morphology, Radioulnar synostosis, Scoliosis, Abnormality ... ORPHA:2319
Muenke Syndrome
Plagiocephaly, Coronal craniosynostosis, Brachycephaly, Midface retrusion OMIM:602849
Idiopathic Juvenile Osteoporosis
Recurrent fractures, Kyphosis, Bone pain, Osteoporosis, Vertebral compression fracture ORPHA:85193
Axial Spondylometaphyseal Dysplasia
Osteopenia, Aplasia/Hypoplasia of the ribs, Thoracic scoliosis, Aplasia/Hypoplasia of the vertebr... ORPHA:168549
Imperforate Oropharynx-Costovertebral Anomalies Syndrome
Missing ribs, Abnormal rib morphology, Hemivertebrae, Abnormal form of the vertebral bodies, Join... ORPHA:2759
Peutz-Jeghers Syndrome
Abnormality of the gastrointestinal tract, Gastrointestinal hemorrhage, Neoplasm of the colon, In... ORPHA:2869
Intellectual Developmental Disorder, Autosomal Dominant 67
Posterior plagiocephaly OMIM:619927
Endosteal Hyperostosis, Autosomal Dominant
Clavicular sclerosis, Sclerotic vertebral body, Metacarpal diaphyseal endosteal sclerosis, Metata... OMIM:144750
Diastrophic Dysplasia
Joint dislocation, Abnormal clavicle morphology, Increased bone mineral density, Camptodactyly of... ORPHA:628
Vertebral Hypersegmentation And Orofacial Anomalies
Scapular winging, Pectus excavatum, Supernumerary ribs, Six lumbar vertebrae, Joint hypermobility OMIM:619122
Craniodigital-Intellectual Disability Syndrome
Spina bifida occulta, Short stature, Brachycephaly ORPHA:1514
Basal Cell Nevus Syndrome 1
Vertebral fusion, Down-sloping shoulders, Kyphoscoliosis, Hemivertebrae, Irregular ossification o... OMIM:109400
Cornelia De Lange Syndrome 2
Short stature, Postnatal growth retardation, Brachycephaly, Intrauterine growth retardation, Hype... OMIM:300590
Intellectual Developmental Disorder With Dysmorphic Facies And Ptosis
Cervical C2/C3 vertebral fusion, Joint hypermobility, Camptodactyly OMIM:617333
Neurodevelopmental Disorder With Hypotonia And Variable Intellectual And Behavioral Abnormalities
Plagiocephaly, Brachycephaly OMIM:618603
Intellectual Developmental Disorder, Autosomal Dominant 26
Umbilical hernia, Short stature, Brachycephaly, Intrauterine growth retardation OMIM:615834
Intellectual Developmental Disorder, Autosomal Dominant 66
Secundum atrial septal defect, Brachycephaly, Plagiocephaly, Transposition of the great arteries OMIM:619910
Femoral-Facial Syndrome
Short fourth metatarsal, Hemivertebrae, Sprengel anomaly, Gastroesophageal reflux, Micropenis, Dy... OMIM:134780
Chromosome 8Q22.1 Duplication Syndrome
Enlarged interphalangeal joints, Genu recurvatum, Interphalangeal joint contracture of finger, Jo... OMIM:151200
Intellectual Developmental Disorder With Language Impairment And With Or Without Autistic Features
Aggressive behavior, Enuresis, Self-injurious behavior, Compulsive behaviors, Attention deficit h... OMIM:613670
Vertebral, Cardiac, Tracheoesophageal, Renal, And Limb Defects
Pectus excavatum, Fused cervical vertebrae, Sprengel anomaly, Spina bifida occulta, Butterfly ver... OMIM:619227
Developmental And Epileptic Encephalopathy 1
Plagiocephaly, Growth delay OMIM:308350
Bardet-Biedl Syndrome 8
Situs inversus totalis, Brachycephaly OMIM:615985
Jeune Syndrome
Abnormal clavicle morphology, Renal insufficiency, Toe syndactyly, Micromelia, Postaxial hand pol... ORPHA:474
Aminopterin Syndrome Sine Aminopterin
Frontal bossing, Short stature, Brachycephaly, Umbilical hernia, Intrauterine growth retardation OMIM:600325
Intellectual Developmental Disorder, Autosomal Dominant 50, With Behavioral Abnormalities
Abnormal repetitive mannerisms, Attention deficit hyperactivity disorder OMIM:617787
Intellectual Disability-Facial Dysmorphism-Hand Anomalies Syndrome
Cervical C2/C3 vertebral fusion ORPHA:370010
Prune1-Related Neurological Syndrome
Plagiocephaly, Hypertrophic cardiomyopathy ORPHA:544469
Structural Brain Anomalies With Impaired Intellectual Development And Craniosynostosis
Flat occiput, Brachycephaly, Lambdoidal craniosynostosis, Spina bifida occulta, Bicoronal synostosis OMIM:618736
Anencephaly 1
Anencephaly, Spina bifida OMIM:206500
Larsen Syndrome
Joint laxity, Vertebral fusion, Cervical kyphosis, Pectus excavatum, Elbow dislocation, Dislocate... OMIM:150250
Wolf-Hirschhorn Syndrome
Abnormal form of the vertebral bodies, Chronic otitis media, Abnormal vertebral morphology, Low-s... ORPHA:280
6Q25 Microdeletion Syndrome
Plagiocephaly, Short stature ORPHA:251056
Developmental And Epileptic Encephalopathy 65
Plagiocephaly OMIM:618008
Neurodevelopmental Disorder With Brain Anomalies And With Or Without Vertebral Or Cardiac Anomalies
Plagiocephaly, Midface retrusion OMIM:618731
Multiple Epiphyseal Dysplasia Type 5
Back pain, Osteoarthritis of the small joints of the hand, Abnormal acetabulum morphology, Decrea... ORPHA:93311
Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked
Duplicated collecting system, Hypospadias, Posteriorly rotated ears, Rocker bottom foot, Coxa val... OMIM:301056
Craniofrontonasal Dysplasia
Plagiocephaly, Frontal bossing, Brachycephaly, Craniosynostosis ORPHA:1520
Neurodevelopmental Disorder With Hypotonia, Microcephaly, And Seizures
Plagiocephaly, Short stature, Brachycephaly OMIM:618862
White Forelock With Malformations
Delayed skeletal maturation, Abnormal rib morphology, Joint hyperflexibility, Sprengel anomaly, S... ORPHA:2475
Intellectual Developmental Disorder, X-Linked 1
Brachycephaly OMIM:309530
Hennekam Lymphangiectasia-Lymphedema Syndrome 1
Ectopic kidney, Rectal prolapse, Cutaneous finger syndactyly, Protein-losing enteropathy, Short p... OMIM:235510
Short-Rib Thoracic Dysplasia 17 With Or Without Polydactyly
Lateral clavicle hook, Trident acetabulum, Narrow chest, Short ribs, Acetabular spurs, Horizontal... OMIM:617405
Cortical Dysplasia, Complex, With Other Brain Malformations 13
Plagiocephaly OMIM:614563
Recombinant Chromosome 8 Syndrome
Ventricular septal defect, Postnatal growth retardation, Patent ductus arteriosus, Brachycephaly,... OMIM:179613
Craniosynostosis-Hydrocephalus-Arnold-Chiari Malformation Type I-Radioulnar Synostosis Syndrome
Turricephaly, Craniosynostosis, Patent ductus arteriosus, Hydrocephalus, Brachycephaly, Umbilical... ORPHA:171839
Spondyloepimetaphyseal Dysplasia, Strudwick Type
Anterior rib cupping, Hyperlordosis, Hypoplasia of the odontoid process, Pectus carinatum, Genu v... OMIM:184250
Osteogenesis Imperfecta, Type Xviii
Joint laxity, Recurrent fractures, Joint hypermobility, Thin ribs, Biconcave vertebral bodies, Wo... OMIM:617952
Kleefstra Syndrome Due To A Point Mutation
Short stature, Brachycephaly, Abnormal heart morphology, Plagiocephaly, Umbilical hernia, Midface... ORPHA:261652
Autosomal Dominant Spastic Paraplegia Type 29
Hearing impairment, Abnormal rectum morphology, Abnormality of the lower urinary tract, Hiatus he... ORPHA:101009
Spondyloepimetaphyseal Dysplasia, Borochowitz-Cormier-Daire Type
Lumbar hyperlordosis, Ovoid vertebral bodies, Pectus excavatum, Limited elbow extension, Flat ace... OMIM:608728
Mucopolysaccharidosis Type 4
Joint dislocation, Hyperlordosis, Short neck, Kyphosis, Delayed skeletal maturation, Short thorax... ORPHA:582
Congenital Disorder Of Glycosylation, Type Iiy
Brachycephaly OMIM:620200
Mullerian Duct Aplasia, Unilateral Renal Agenesis, And Cervicothoracic Somite Anomalies
Renal agenesis, Unilateral renal agenesis, Ectopic kidney, Abnormal rib morphology, Cleft palate,... OMIM:601076
Cat-Eye Syndrome
Renal hypoplasia/aplasia, Abnormal rib morphology, Abnormal localization of kidney, Hydronephrosi... ORPHA:195
Nevus Comedonicus Syndrome
Spina bifida occulta, Abnormal vertebral morphology, Scoliosis ORPHA:64754
Lateral Meningocele Syndrome
Vertebral fusion, Short neck, Pectus excavatum, Kyphosis, Sclerosis of skull base, Scoliosis, Wor... OMIM:130720
Intellectual Developmental Disorder, Autosomal Recessive 39
Hallux valgus, Hyperactivity, Kyphoscoliosis, Aggressive behavior, Anteverted ears, Macrotia, Abn... OMIM:615541
Chromosome 3Pter-P25 Deletion Syndrome
Flat occiput, Short stature, Postnatal growth retardation, Brachycephaly, Growth delay, Dolichoce... OMIM:613792
Osteogenesis Imperfecta, Type Iii
Recurrent fractures, Protrusio acetabuli, Severe generalized osteoporosis, Multiple prenatal frac... OMIM:259420
1P36 Deletion Syndrome
Hypoplasia of penis, Renal cyst, Gastroesophageal reflux, Conductive hearing impairment, Clinodac... ORPHA:1606
Hyperprolinemia, Type I
Hyperactivity, Aggressive behavior, Hyperglycinuria, Prolinuria, Hydroxyprolinuria, Abnormal repe... OMIM:239500
Thrombocytopenia-Absent Radius Syndrome
Aplasia/Hypoplasia of the patella, Hip dislocation, Fused cervical vertebrae, Cervical ribs, Pate... ORPHA:3320
German Syndrome
Short stature, Brachycephaly, Abnormal cardiac septum morphology, Dolichocephaly, Tetralogy of Fa... ORPHA:2077
Mucopolysaccharidosis, Type X
Irregular acetabular roof, Spatulate ribs, Hyperlordosis, Broad clavicles, Genu valgum, Platyspon... OMIM:619698
Osteogenesis Imperfecta, Type Ii
Recurrent fractures, Beaded ribs, Multiple prenatal fractures, Absent ossification of calvaria, T... OMIM:166210
Auricular Abnormalities-Cleft Lip With Or Without Cleft Palate-Ocular Abnormalities Syndrome
Plagiocephaly ORPHA:77300
Intellectual Developmental Disorder, X-Linked 72
Hyperactivity, Abnormal repetitive mannerisms OMIM:300271
Microcephaly, Facial Dysmorphism, Renal Agenesis, And Ambiguous Genitalia Syndrome
Hypoplastic right heart, Ventricular septal defect, Patent ductus arteriosus, Brachycephaly, Atri... OMIM:618142
Intellectual Developmental Disorder, Autosomal Recessive 38
Plagiocephaly OMIM:615516
Spondylometaphyseal Dysplasia With Cone-Rod Dystrophy
Ovoid vertebral bodies, Joint stiffness, Cupped ribs, Platyspondyly, Scoliosis, Severe platyspondyly OMIM:608940
Koolen-De Vries Syndrome
Vertebral fusion, Pectus excavatum, Kyphosis, Hip dislocation, Joint hyperflexibility, Vertebral ... ORPHA:96169
Hurler-Scheie Syndrome
Limitation of joint mobility, Abnormal vertebral morphology, Spinal canal stenosis ORPHA:93476
Osteogenesis Imperfecta, Type Xvi
Osteopenia, Multiple rib fractures, Recurrent fractures, Beaded ribs, Platyspondyly, Decreased ca... OMIM:616229
Mucopolysaccharidosis, Type Iva
Joint laxity, Ulnar deviation of the wrist, Ovoid vertebral bodies, Short neck, Hyperlordosis, Hy... OMIM:253000
Craniosynostosis, Herrmann-Opitz Type
Turricephaly, Short stature, Craniosynostosis, Brachycephaly, Intrauterine growth retardation ORPHA:2145
Robinow Syndrome
Hemivertebrae, Webbed penis, Micropenis, Fused thoracic vertebrae, Syndactyly, Multicystic kidney... ORPHA:97360
Neurodevelopmental Disorder With Microcephaly, Hypotonia, And Variable Brain Anomalies
Plagiocephaly OMIM:617481
Potocki-Shaffer Syndrome
Parietal foramina, Turricephaly, Brachycephaly OMIM:601224
Trisomy 13
High, narrow palate, Kyphosis, Sensorineural hearing impairment, Abnormality of the ureter, Abnor... ORPHA:3378
Peroxisomal Acyl-Coa Oxidase Deficiency
Frontal bossing, Brachycephaly OMIM:264470
Spondyloepimetaphyseal Dysplasia, Missouri Type
Irregular sclerotic endplates, Osteoarthritis, Delayed skeletal maturation, Platyspondyly, Flared... OMIM:602111
Frontonasal Dysplasia-Alopecia-Genital Anomalies Syndrome
Encephalocele, Frontal bossing, Brachycephaly, Intrauterine growth retardation, Coronal craniosyn... ORPHA:228390
Potocki-Shaffer Syndrome
Parietal foramina, Brachycephaly, Delayed puberty ORPHA:52022
Spondyloepimetaphyseal Dysplasia, Shohat Type
Joint laxity, Hyperlordosis, Short neck, Delayed epiphyseal ossification, Premature osteoarthriti... ORPHA:93352
Camptodactyly Syndrome, Guadalajara Type 1
Short stature, Spina bifida, Brachycephaly, Intrauterine growth retardation, Midface retrusion ORPHA:1327
8Q12 Microduplication Syndrome
Atrial septal defect, Ventricular septal defect, Brachycephaly ORPHA:228399
Developmental Delay With Variable Intellectual Impairment And Behavioral Abnormalities
Plagiocephaly, Frontal bossing, Brachycephaly, Midface retrusion OMIM:618430
Spondyloepimetaphyseal Dysplasia Congenita, Strudwick Type
Abnormally ossified vertebrae, Restricted large joint movement, Platyspondyly, Delayed ossificati... ORPHA:93346
Bresek Syndrome
Plagiocephaly, Intrauterine growth retardation, Growth delay ORPHA:85284
Intellectual Developmental Disorder With Dysmorphic Facies And Behavioral Abnormalities
Plagiocephaly, Short stature OMIM:618089
Holt-Oram Syndrome
Abnormal clavicle morphology, Down-sloping shoulders, Joint stiffness, Pectus excavatum, Kyphosis... ORPHA:392
Phaver Syndrome
Camptodactyly of finger, Joint stiffness, Abnormal rib morphology, Abnormal form of the vertebral... ORPHA:2876
Metaphyseal Chondrodysplasia, Schmid Type
Broad proximal phalanges of the hand, Short tubular bones of the hand, Bowing of the legs, Proxim... ORPHA:174
Neurodevelopmental Disorder With Hypotonia And Impaired Expressive Language And With Or Without Seizures
Abnormal repetitive mannerisms, Agitation, Aggressive behavior OMIM:617171
Schneckenbecken Dysplasia
Hypoplastic scapulae, Anterior rib cupping, Ovoid vertebral bodies, Short neck, Lateral clavicle ... OMIM:269250
Cole-Carpenter Syndrome
Recurrent fractures, Kyphosis, Abnormal rib morphology, Abnormal form of the vertebral bodies, Jo... ORPHA:2050
Ganglioneuroma
Gastrointestinal hemorrhage, Functional intestinal obstruction, Hamartomatous polyposis, Multiple... ORPHA:251992
Pseudoachondroplasia
Joint laxity, Lumbar hyperlordosis, Genu recurvatum, Limited hip extension, Spatulate ribs, Ulnar... OMIM:177170
Achondrogenesis Type 1B
Abnormal enchondral ossification, Short neck, Short thorax, Abnormal rib morphology, Narrow chest ORPHA:93298
Intellectual Developmental Disorder, Autosomal Dominant 52
Scapular winging, Lumbar hyperlordosis, Pectus carinatum, Lumbar scoliosis, Cervical C2/C3 verteb... OMIM:617796
Fibrochondrogenesis
Hypoplastic scapulae, Camptodactyly of finger, Short neck, Abnormal rib morphology, Abnormal form... ORPHA:2021
Mucopolysaccharidosis, Type Iiia
Thickened ribs, Joint stiffness, Ovoid thoracolumbar vertebrae, Scoliosis, Dense calvaria OMIM:252900
Intellectual Disability-Polydactyly-Uncombable Hair Syndrome
Broad hallux phalanx, Hypoplasia of penis, Toe syndactyly, Short neck, Metatarsus valgus, Kyphosi... ORPHA:3082
Craniodiaphyseal Dysplasia
Conductive hearing impairment, Stenosis of the external auditory canal, Abnormal rib morphology, ... ORPHA:1513
Infantile-Onset X-Linked Spinal Muscular Atrophy
Hip contracture, Interphalangeal joint contracture of finger, Kyphoscoliosis, Ankle flexion contr... ORPHA:1145
Wolf-Hirschhorn Syndrome
Abnormal form of the vertebral bodies, Gastroesophageal reflux, Conductive hearing impairment, Ab... OMIM:194190
Cooper-Jabs Syndrome
Frontal bossing, Ventricular septal defect, Short stature, Brachycephaly, Umbilical hernia ORPHA:1488
Even-Plus Syndrome
Severe short stature, Brachycephaly, Atrial septal defect, Patent foramen ovale, Midface retrusion OMIM:616854
Cardiospondylocarpofacial Syndrome
Joint laxity, Tarsal synostosis, Delayed skeletal maturation, Rib fusion, Fused cervical vertebra... OMIM:157800
Brachymorphism-Onychodysplasia-Dysphalangism Syndrome
Frontal bossing, Abnormal mitral valve morphology, Short stature, Brachycephaly, Biparietal narro... ORPHA:1292
Hereditary Sensory And Autonomic Neuropathy Due To Tecpr2 Mutation
Short stature, Brachycephaly ORPHA:320385
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia
11 pairs of ribs, Platyspondyly, Decreased skull ossification, Thin ribs OMIM:300863
Muenke Syndrome
Plagiocephaly, Coronal craniosynostosis, Brachycephaly ORPHA:53271
Atelosteogenesis, Type I
11 pairs of ribs, Long clavicles, Short neck, Thoracic platyspondyly, Elbow dislocation, Bell-sha... OMIM:108720
Chromosome 15Q11-Q13 Duplication Syndrome
Restrictive behavior, Abnormal repetitive mannerisms, Inflexible adherence to routines OMIM:608636
Congenital Heart Defects And Ectodermal Dysplasia
Frontal bossing, Atrioventricular canal defect, Brachycephaly OMIM:617364
Intellectual Disability-Hypotonia-Brachycephaly-Pyloric Stenosis-Cryptorchidism Syndrome
Frontal bossing, Short stature, Brachycephaly, Craniosynostosis ORPHA:314575
Renal Caliceal Diverticuli-Deafness Syndrome
Hydroureter, Abnormality of the kidney, Abnormality of the upper urinary tract, Sensorineural hea... ORPHA:2838
Holoprosencephaly-Craniosynostosis Syndrome
Plagiocephaly, Short stature, Brachycephaly, Craniosynostosis ORPHA:2163
Vacterl/Vater Association
Low-set, posteriorly rotated ears, Finger syndactyly, Hypoplasia of penis, Multicystic kidney dys... ORPHA:887
Congenital Heart Defects, Dysmorphic Facial Features, And Intellectual Developmental Disorder
Ventricular septal defect, Short stature, Plagiocephaly, Prominent occiput, Atrial septal defect,... OMIM:617360
Neurodevelopmental Disorder With Epilepsy, Cataracts, Feeding Difficulties, And Delayed Brain Myelination
Abnormal repetitive mannerisms, Gastroesophageal reflux, Scoliosis OMIM:617393
Hyperphosphatasia With Impaired Intellectual Development Syndrome 2
Plagiocephaly, Growth delay, Left unicoronal synostosis, Atrial septal defect, Anterior plagiocep... OMIM:614749
Methylmalonic Aciduria And Homocystinuria, Cblx Type
Short stature, Brachycephaly OMIM:309541
Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 1
Postnatal growth retardation, Intrauterine growth retardation, Brachycephaly OMIM:615419
Smith-Magenis Syndrome
Brachydactyly, Hyperactivity, Abnormal repetitive mannerisms, Velopharyngeal insufficiency, Abnor... OMIM:182290
Neuropathy, Hereditary Sensory And Autonomic, Type Ix, With Developmental Delay
Short stature, Brachycephaly OMIM:615031
Lopes-Maciel-Rodan Syndrome
Kyphosis, Small hand, Bruxism, Short foot, Agitation, Scoliosis, Dysphagia, Abnormal repetitive m... OMIM:617435
Hypotonia-Speech Impairment-Severe Cognitive Delay Syndrome
Plagiocephaly, Frontal bossing, Short stature, Intrauterine growth retardation ORPHA:371364
Mucopolysaccharidosis, Type Iiib
Thickened ribs, Ovoid thoracolumbar vertebrae, Dense calvaria, Joint stiffness OMIM:252920
Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome
Frontal bossing, Ventricular septal defect, Bicuspid aortic valve, Abnormal heart morphology, Pla... ORPHA:457279
Pseudodiastrophic Dysplasia
Frontal bossing, Severe short stature, Rhizomelia, Brachycephaly, Midface retrusion OMIM:264180
Neurodevelopmental Disorder With Microcephaly, Impaired Language, Epilepsy, And Gait Abnormalities
Syndactyly, Arachnodactyly, Pectus excavatum, Clinodactyly, Large fleshy ears, Thoracic kyphosis,... OMIM:619092
Osteogenesis Imperfecta, Type Xx
Brachycephaly, Plagiocephaly, Disproportionate short-limb short stature, Intrauterine growth reta... OMIM:618644
Autosomal Dominant Intellectual Disability-Craniofacial Anomalies-Cardiac Defects Syndrome
Short stature, Ventricular septal defect, Craniosynostosis, Plagiocephaly, Growth delay, Atrial s... ORPHA:457193
Short-Rib Thoracic Dysplasia 11 With Or Without Polydactyly
Postaxial polydactyly, Lateral clavicle hook, Nephrocalcinosis, Bell-shaped thorax, Thoracic dysp... OMIM:615633
Grant Syndrome
Joint dislocation, Abnormal rib morphology, Decreased skull ossification, Joint hyperflexibility,... ORPHA:2097
Developmental Delay, Language Impairment, And Ocular Abnormalities
Hyperactivity, Impulsivity, Aggressive behavior, Frequent temper tantrums, Scoliosis, Attention d... OMIM:620141
Urban-Rogers-Meyer Syndrome
Hypoplasia of penis, Toe syndactyly, Camptodactyly of finger, Short neck, Kyphosis, Aplasia/Hypop... ORPHA:3409
Intellectual Developmental Disorder With Autism And Speech Delay
Abnormal repetitive mannerisms OMIM:606053
Dyggve-Melchior-Clausen Disease
Glenoid fossa hypoplasia, Short neck, Horizontal inferior border of scapula, Hypoplasia of the od... ORPHA:239
Melnick-Needles Syndrome
Delayed cranial suture closure, Short thorax, Abnormal rib morphology, Hip dislocation, Osteolyti... ORPHA:2484
Zttk Syndrome
Polyuria, Unilateral renal agenesis, Kyphosis, Submucous cleft hard palate, Rib fusion, Hemiverte... OMIM:617140
Crouzon Syndrome
Frontal bossing, Turricephaly, Hydrocephalus, Brachycephaly, Multiple suture craniosynostosis, Mi... ORPHA:207
Fraser Syndrome 2
Renal agenesis, Intestinal malrotation, Unilateral renal agenesis, Short neck, Rectal atresia, Sh... OMIM:617666
Dubowitz Syndrome
Aplasia/Hypoplasia of the thumb, Abnormality of thumb phalanx, Rectal prolapse, Protruding ear, H... ORPHA:235
3M Syndrome
Scapular winging, Congenital hip dislocation, Short neck, Hyperlordosis, Increased vertebral heig... ORPHA:2616
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
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Brain Atrophy
Recurrent hand flapping, Abnormal repetitive mannerisms, Dysphagia OMIM:617862
Mucopolysaccharidosis, Type Iiic
Thickened ribs, Kyphoscoliosis, Joint stiffness, Ovoid thoracolumbar vertebrae, Beaking of verteb... OMIM:252930
Pierpont Syndrome
Short stature, Brachycephaly, Midface retrusion OMIM:602342
Robinow-Sorauf Syndrome
Plagiocephaly, Pansynostosis, Craniosynostosis OMIM:180750
Penoscrotal Transposition
Renal agenesis, Hypospadias, Abnormality of the urethra, Penoscrotal transposition, Patellar apla... ORPHA:2842
Malan Overgrowth Syndrome
Plagiocephaly, Frontal bossing, Scaphocephaly ORPHA:420179
Platyspondylic Lethal Skeletal Dysplasia, Torrance Type
Disc-like vertebral bodies, Ovoid vertebral bodies, Short neck, Flat acetabular roof, Thin ribs, ... OMIM:151210
Achondrogenesis Type 1A
Multiple rib fractures, Recurrent fractures, Short neck, Abnormal enchondral ossification, Short ... ORPHA:93299
22Q11.2 Duplication Syndrome
Urethral stenosis, Cleft palate, Anterior creases of earlobe, Scoliosis, Compulsive behaviors, At... ORPHA:1727
Postaxial Acrofacial Dysostosis
Syndactyly, Hypoplasia of the ulna, Abnormality of the kidney, Pectus excavatum, Midgut malrotati... OMIM:263750
Hyperphosphatasia With Impaired Intellectual Development Syndrome 1
Aganglionic megacolon, Posteriorly rotated ears, Tapered finger, Sensorineural hearing impairment... OMIM:239300
Bryant-Li-Bhoj Neurodevelopmental Syndrome 1
Frontal bossing, Bicuspid aortic valve, Plagiocephaly, Atrial septal defect, Midface retrusion OMIM:619720
X-Linked Intellectual Disability, Sutherland-Haan Type
Short stature, Brachycephaly ORPHA:93950
Ehlers-Danlos Syndrome, Musculocontractural Type, 2
Frontal bossing, Brachycephaly, Mitral valve prolapse, Patent foramen ovale, Midface retrusion OMIM:615539
Renal Hypoplasia
Renal insufficiency, Urethral valve, Proteinuria, Recurrent urinary tract infections, Unilateral ... ORPHA:93101
Neurodevelopmental Disorder With Hypotonia, Facial Dysmorphism, And Brain Abnormalities
Atrial septal defect, Hypertrophic cardiomyopathy, Flat occiput, Plagiocephaly OMIM:619383
Shashi-Pena Syndrome
Accelerated skeletal maturation, Kyphosis, Osteoporosis, Scoliosis, Cervical C2/C3 vertebral fusion OMIM:617190
Faciodigitogenital Syndrome, Autosomal Recessive
Vertebral fusion, Down-sloping shoulders, Pectus excavatum, Hyperextensible hand joints, Abnormal... OMIM:227330
Dyggve-Melchior-Clausen Disease
Short neck, Flat glenoid fossa, Pectus carinatum, Thoracic kyphosis, Multicentric ossification of... OMIM:223800
Congenital Lactic Acidosis, Saguenay-Lac-Saint-Jean Type
Hypertrophic cardiomyopathy, Brachycephaly, Abnormal heart morphology ORPHA:70472
Chromosome 6Pter-P24 Deletion Syndrome
Frontal bossing, Ventricular septal defect, Patent ductus arteriosus, Hydrocephalus, Brachycephal... OMIM:612582
Craniofacial Dysplasia-Short Stature-Ectodermal Anomalies-Intellectual Disability Syndrome
Short stature, Trigonocephaly, Sagittal craniosynostosis, Hydrocephalus, Scaphocephaly, Brachycep... ORPHA:459061
Autism Spectrum Disorder Due To Auts2 Deficiency
Hyperactivity, Kyphosis, Repetitive compulsive behavior, Joint contracture of the 5th finger, Low... ORPHA:352490
Baker-Gordon Syndrome
Abnormal repetitive mannerisms, Self-injurious behavior, Gastroesophageal reflux, Scoliosis OMIM:618218
Intellectual Developmental Disorder, Autosomal Recessive 58
Self-injurious behavior, Abnormal repetitive mannerisms, Pica, Aggressive behavior OMIM:617270
Baller-Gerold Syndrome
Patellar hypoplasia, Anteriorly placed anus, High palate, Conductive hearing impairment, Spina bi... OMIM:218600
Fanconi Anemia, Complementation Group O
Proximal placement of thumb, Absent thumb, Short thumb, Rectal atresia, Hypoplasia of the radius,... OMIM:613390
Cortical Dysplasia, Complex, With Other Brain Malformations 2
Short foot, Abnormal repetitive mannerisms, Self-injurious behavior, Small hand OMIM:615282
Cri-Du-Chat Syndrome
Short neck, Short metatarsal, High palate, Gastroesophageal reflux, Abnormal repetitive mannerism... OMIM:123450
10Q22.3Q23.3 Microduplication Syndrome
Abnormal clavicle morphology, Hypospadias, Abnormal rib morphology, Low-set ears, Chronic otitis ... ORPHA:276422
Congenital Anomalies Of Kidney And Urinary Tract 2
Renal dysplasia, Back pain, Renal insufficiency, Hydroureter, Renal hypoplasia, Congenital megaur... OMIM:143400
Otopalatodigital Syndrome Type 2
Increased bone mineral density, Tarsal synostosis, Camptodactyly of finger, Elbow dislocation, Ab... ORPHA:90652
Neurodevelopmental Disorder With Neuromuscular And Skeletal Abnormalities
Plagiocephaly, Intrauterine growth retardation, Short stature OMIM:619833
Acrorenal-Mandibular Syndrome
Hemivertebrae, Aplasia of the bladder, High palate, Narrow chest, Hypoplasia of the ulna, Split h... OMIM:200980
Sifrim-Hitz-Weiss Syndrome
Wormian bones, Fused cervical vertebrae, Short clavicles, Flat acetabular roof OMIM:617159
Congenital Disorder Of Glycosylation, Type Il
Pericardial effusion, Frontal bossing, Abnormal cardiac septum morphology, Brachycephaly OMIM:608776
Faciocardiorenal Syndrome
Plagiocephaly, Tricuspid valve prolapse, Endocardial fibroelastosis ORPHA:1973
Neurodevelopmental Disorder With Or Without Autistic Features And/Or Structural Brain Abnormalities
Brachycephaly OMIM:618859
Cole-Carpenter Syndrome 2
Osteopenia, Wide cranial sutures, Recurrent fractures, Pectus excavatum, Kyphosis, Thin ribs, Pla... OMIM:616294
Foxg1 Syndrome
Kyphoscoliosis, Gastroesophageal reflux, Scoliosis, Bruxism, Abnormal repetitive mannerisms, Paro... ORPHA:561854
Chromosome 1P36 Deletion Syndrome, Distal
Ectopic kidney, High palate, Gastroesophageal reflux, Conductive hearing impairment, Thickened he... OMIM:607872
Galloway-Mowat Syndrome 4
Plagiocephaly, Short stature OMIM:617730
Craniosynostosis 2
Frontal bossing, Turricephaly, Craniosynostosis, Unicoronal synostosis, Brachycephaly, Trigonocep... OMIM:604757
3Q29 Microdeletion Syndrome
Hypospadias, Tapered finger, Pectus excavatum, Aggressive behavior, Horseshoe kidney, Pectus cari... ORPHA:65286
Mucopolysaccharidosis Type 6
Ovoid vertebral bodies, Joint stiffness, Short neck, Kyphosis, Genu valgum, Broad ribs ORPHA:583
Inverted Duplicated Chromosome 15 Syndrome
Frontal bossing, Ventricular septal defect, Brachycephaly, Growth delay, Tetralogy of Fallot ORPHA:3306
Caudal Duplication
Abnormal penis morphology, Ureteral duplication, Renal hypoplasia/aplasia, Abnormal sacrum morpho... ORPHA:1756
17Q12 Microduplication Syndrome
Abnormal vertebral morphology ORPHA:261272
Carpenter Syndrome 1
Ventricular septal defect, Short stature, Sagittal craniosynostosis, Patent ductus arteriosus, Te... OMIM:201000
Koolen-De Vries Syndrome
Vertebral fusion, Sacral dimple, Prominent metopic ridge, Pectus excavatum, Kyphosis, Hip disloca... OMIM:610443
Crouzon Syndrome-Acanthosis Nigricans Syndrome
Frontal bossing, Turricephaly, Hydrocephalus, Brachycephaly ORPHA:93262
Intellectual Disability-Strabismus Syndrome
Atrial septal defect, Intrauterine growth retardation, Plagiocephaly, Short stature ORPHA:363528
Mirror Polydactyly-Vertebral Segmentation-Limbs Defects Syndrome
Vertebral segmentation defect ORPHA:3004
4Q21 Microdeletion Syndrome
Short palm, Toe syndactyly, Micromelia, Short neck, Kyphosis, Small hand, Short foot, Self-injuri... ORPHA:238750
Cenani-Lenz Syndrome
Elbow dislocation, Abnormal rib morphology, Hip dislocation, Abnormal form of the vertebral bodie... ORPHA:3258
Intellectual Developmental Disorder With Dysmorphic Facies, Seizures, And Distal Limb Anomalies
Flat occiput, Ventricular septal defect, Short stature, Brachycephaly, Atrial septal defect, Intr... OMIM:617452
Smith-Magenis Syndrome
Toe syndactyly, Renal hypoplasia/aplasia, Abnormality of the ureter, Cleft palate, Abnormal local... ORPHA:819
Neurodevelopmental Disorder With Dysmorphic Facies And Skeletal And Brain Abnormalities
11 pairs of ribs, Broad hallux, Short neck, Clinodactyly of the 2nd toe, Coxa valga, Short distal... OMIM:620073
Blepharophimosis-Impaired Intellectual Development Syndrome
Plagiocephaly, Frontal bossing OMIM:619293
Anauxetic Dysplasia 3
Plagiocephaly, Severe short stature, Midface retrusion OMIM:618853
Neurodevelopmental Disorder With Hypotonia, Impaired Language, And Dysmorphic Features
Plagiocephaly, Umbilical hernia OMIM:616579
Arnold-Chiari Malformation Type I
Stiff neck, Fused cervical vertebrae, Scoliosis, Cervical C2/C3 vertebral fusion, Anteriorly plac... ORPHA:268882
Brachytelephalangic Chondrodysplasia Punctata
Stippling of the epiphyses of the distal phalanges of the hand, Calcaneal epiphyseal stippling, C... ORPHA:79345
Cataract-Intellectual Disability-Hypogonadism Syndrome
Short stature, Brachycephaly, Midface retrusion ORPHA:1387
Growth Delay-Hydrocephaly-Lung Hypoplasia Syndrome
Abnormally ossified vertebrae, Abnormal rib morphology ORPHA:3035
Fg Syndrome Type 1
Short stature, Craniosynostosis, Mitral valve prolapse, Prominent occiput, Plagiocephaly, Atrial ... ORPHA:93932
Renpenning Syndrome
Hypospadias, Pectus excavatum, High, narrow palate, Sensorineural hearing impairment, Abnormal th... ORPHA:3242
Developmental And Epileptic Encephalopathy 107
Abnormal repetitive mannerisms OMIM:620033
Fanconi Anemia, Complementation Group I
Fused cervical vertebrae, Short neck OMIM:609053
Osteogenesis Imperfecta, Type Viii
Barrel-shaped chest, Osteopenia, Joint laxity, Recurrent fractures, Multiple prenatal fractures, ... OMIM:610915
Vacterl Association With Hydrocephalus
Abnormality of the vertebral column, Abnormal vertebral morphology OMIM:276950
Frontonasal Dysplasia 2
Encephalocele, Craniosynostosis, Parietal foramina, Calvarial skull defect, Brachycephaly, Intrau... OMIM:613451
Ritscher-Schinzel Syndrome 4
Plagiocephaly, Short stature, Brachycephaly OMIM:619435
Microphthalmia, Lenz Type
Low-set, posteriorly rotated ears, Abnormal clavicle morphology, Finger syndactyly, Hydroureter, ... ORPHA:568
Achondrogenesis, Type Ia
Barrel-shaped chest, Hypoplastic scapulae, Hypoplastic sacrum, Beaded ribs, Short neck, Abnormal ... OMIM:200600
Pontocerebellar Hypoplasia, Type 3
Short stature, Brachycephaly OMIM:608027
Developmental And Epileptic Encephalopathy 110
Posterior plagiocephaly OMIM:620149
Spondyloepiphyseal Dysplasia-Craniosynostosis-Cleft Palate-Cataracts-Intellectual Disability Syndrome
Anterior plagiocephaly, Frontal bossing, Brachycephaly ORPHA:163649
Osteopathia Striata-Cranial Sclerosis Syndrome
Frontal bossing, Flat occiput, Severe short stature, Facial hyperostosis, Brachycephaly, Aortic v... ORPHA:2780
Gomez-Lopez-Hernandez Syndrome
Turricephaly, Short stature, Craniosynostosis, Brachycephaly, Skull asymmetry, Midface retrusion OMIM:601853
Laurence-Moon Syndrome
Short stature, Brachycephaly ORPHA:2377
Lethal Hemolytic Anemia-Genital Anomalies Syndrome
Hypoplasia of penis, Sandal gap, Hypospadias, Renal hypoplasia/aplasia, Abnormality of the ureter ORPHA:1046
Cutis Laxa, Autosomal Recessive, Type Iiia
Frontal bossing, Short stature, Brachycephaly, Umbilical hernia, Intrauterine growth retardation OMIM:219150
Hogue-Janssen Syndrome 2
Plagiocephaly OMIM:616362
Pierpont Syndrome
Brachycephaly ORPHA:487825
Developmental And Epileptic Encephalopathy 58
Abnormal repetitive mannerisms OMIM:617830
Dysosteosclerosis
Osteopenia, Sclerosis of hand bone, Sclerotic scapulae, Delayed closure of the anterior fontanell... OMIM:224300
Squamous Cell Carcinoma Of The Anal Canal
Anal stenosis, Rectal prolapse, Neoplasm of the rectum, Neoplasm of the liver, Intestinal bleedin... ORPHA:424019
Osteogenesis Imperfecta, Type X
Osteopenia, Multiple rib fractures, Thoracic scoliosis, Joint laxity, Generalized joint laxity, T... OMIM:613848
Chopra-Amiel-Gordon Syndrome
Postnatal growth retardation, Short stature, Brachycephaly, Midface retrusion OMIM:619504
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type
Multiple rib fractures, Short femur, Hypospadias, Posteriorly rotated ears, Fractured radius, Bea... OMIM:616897
Campomelia, Cumming Type
Multicystic kidney dysplasia, Abnormally ossified vertebrae, Bowing of the long bones, Micromelia... ORPHA:1318
Potocki-Lupski Syndrome
Hyperactivity, Oral-pharyngeal dysphagia, Abnormal renal morphology, Gastroesophageal reflux, Hig... OMIM:610883
Holzgreve Syndrome
Abnormally ossified vertebrae, Abnormal rib morphology, Joint stiffness ORPHA:2167
7Q31 Microdeletion Syndrome
Atrial septal defect, Postnatal growth retardation, Plagiocephaly, Intrauterine growth retardation ORPHA:251061
Alagille Syndrome
Hypoplasia of the ulna, Renal hypoplasia/aplasia, Abnormal rib morphology, Abnormality of the ure... ORPHA:52
Thakker-Donnai Syndrome
Cervical C2/C3 vertebral fusion, Hemivertebrae, Short neck ORPHA:1780
Clark-Baraitser Syndrome
Brachycephaly, Dolichocephaly OMIM:617752
Al Kaissi Syndrome
Short stature, Postnatal growth retardation, Brachycephaly, Atrial septal defect, Intrauterine gr... OMIM:617694
Mosaic Trisomy 8
Abnormal pinna morphology, Camptodactyly of finger, Short neck, Patellar aplasia, Abnormal rib mo... ORPHA:96061
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins
Butterfly vertebrae, Hydroureter, Hypospadias, Intestinal malrotation, Esophageal atresia, Dilata... OMIM:265380
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome
Bicuspid aortic valve, Ventricular septal defect, Craniosynostosis, Abnormal heart morphology, Pl... ORPHA:453499
Early-Onset Seizures-Distal Limb Anomalies-Facial Dysmorphism-Global Developmental Delay Syndrome
Flat occiput, Ventricular septal defect, Short stature, Brachycephaly, Atrial septal defect, Intr... ORPHA:505237
Chromosome 2Q37 Deletion Syndrome
Midface retrusion, Short stature, Brachycephaly, Subvalvular aortic stenosis OMIM:600430
Christianson Syndrome
Pectus excavatum, Abnormal thorax morphology, Gastroesophageal reflux, Inappropriate laughter, Dy... ORPHA:85278
Noonan Syndrome 13
Atrial septal defect, Plagiocephaly, Mitral valve prolapse OMIM:619087
Intellectual Developmental Disorder, Autosomal Dominant 64
Plagiocephaly, Growth delay OMIM:619188
Neurodevelopmental Disorder With Severe Motor Impairment, Absent Language, Cerebral Hypomyelination, And Brain Atrophy
Brachycephaly OMIM:619972
Beta-Mercaptolactate Cysteine Disulfiduria
Low-set, posteriorly rotated ears, Arachnodactyly, Sandal gap, Micromelia, Abnormality of the ure... ORPHA:1035
Intellectual Disability-Myopathy-Short Stature-Endocrine Defect Syndrome
Hyperlordosis, Delayed skeletal maturation, Limitation of joint mobility, Abnormal rib morphology... ORPHA:3068
Solitary Rectal Ulcer Syndrome
Anal fissure, Rectal prolapse, Hematochezia, Compulsive behaviors, Stercoral ulcer ORPHA:209964
Lung Agenesis-Heart Defect-Thumb Anomalies Syndrome
Vertebral segmentation defect, Abnormal rib morphology ORPHA:1120
Mucopolysaccharidosis, Type Ivb
Joint laxity, Ulnar deviation of the wrist, Ovoid vertebral bodies, Hyperlordosis, Joint stiffnes... OMIM:253010
Spondyloepimetaphyseal Dysplasia, X-Linked, With Hypomyelinating Leukodystrophy
Anterior rib cupping, Kyphoscoliosis, Short neck, Hypoplasia of the odontoid process, Delayed ske... OMIM:300232
Frontofacionasal Dysplasia
Encephalocele, Short stature, Brachycephaly, Midface retrusion ORPHA:1791
Poland Syndrome
Aplasia/Hypoplasia of the thumb, Short neck, Hemivertebrae, Pectus carinatum, Abnormal sternum mo... ORPHA:2911
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly
Lateral clavicle hook, Metaphyseal widening, Preaxial polydactyly, Femoral bowing, Micropenis, Hy... OMIM:613091
Richieri-Costa/Guion-Almeida Syndrome
Spina bifida occulta, Short stature, Brachycephaly OMIM:268850
Frontometaphyseal Dysplasia
Limitation of movement at ankles, Interphalangeal joint contracture of finger, Limited elbow move... ORPHA:1826
48,Xxyy Syndrome
Hypoplasia of penis, Cleft palate, Abnormal shoulder morphology, Radioulnar synostosis, Gastroeso... ORPHA:10
Intellectual Developmental Disorder With Paroxysmal Dyskinesia Or Seizures
Abnormal repetitive mannerisms, Inappropriate laughter, Aggressive behavior, Bruxism OMIM:619150
Intellectual Developmental Disorder, X-Linked, Syndromic, Bain Type
Arachnodactyly, Hyperlordosis, Aggressive behavior, Pectus carinatum, Self-injurious behavior, Ga... OMIM:300986
Acro-Renal-Mandibular Syndrome
Abnormal clavicle morphology, Hypoplastic scapulae, Short neck, Kyphosis, Hemivertebrae, Hip disl... ORPHA:958
Williams-Beuren Region Duplication Syndrome
Brachycephaly, Patent ductus arteriosus, Short stature, Hydrocephalus OMIM:609757
Noonan Syndrome With Multiple Lentigines
Abnormal endocardium morphology, Short stature, Abnormal pulmonary valve morphology, Spina bifida... ORPHA:500
Trisomy 20P
Frontal bossing, Spina bifida, Brachycephaly, Plagiocephaly, Dolichocephaly, Umbilical hernia ORPHA:261318
Fibrochondrogenesis 1
Hypoplastic scapulae, Long clavicles, Anterior rib cupping, Short neck, Widely patent sagittal su... OMIM:228520
Silver-Russell Syndrome 1
Syndactyly, Urethral valve, Hypospadias, Abnormality of the ureter, Short distal phalanx of the 5... OMIM:180860
Sacral Agenesis With Vertebral Anomalies
Absence of the sacrum, Vertebral clefting, Abnormal vertebral morphology OMIM:615709
Intellectual Developmental Disorder, Autosomal Dominant 44, With Microcephaly
Scapular winging, Sandal gap, Tapered finger, Pectus excavatum, Kyphosis, Aggressive behavior, 2-... OMIM:617061
Spastic Paraplegia, Intellectual Disability, Nystagmus, And Obesity
Plagiocephaly, Frontal bossing, Brachycephaly OMIM:617296
Microbrachycephaly-Ptosis-Cleft Lip Syndrome
Severe short stature, Flat occiput, Brachycephaly ORPHA:2511
Desanto-Shinawi Syndrome
Brachycephaly, Midface retrusion OMIM:616708
Cat Eye Syndrome
Anal stenosis, Renal agenesis, Intestinal malrotation, Rectal fistula, Absent radius, Rectal atre... OMIM:115470
Gm1-Gangliosidosis, Type I
Thickened ribs, Short neck, Joint stiffness, Kyphosis, Hypoplastic vertebral bodies, Scoliosis, B... OMIM:230500
Intellectual Developmental Disorder, X-Linked, Syndromic, Snijders Blok Type
Brachycephaly, Dysplastic pulmonary valve OMIM:300958
Intellectual Developmental Disorder, Autosomal Dominant 63, With Macrocephaly
Aggressive behavior, Tapered finger, High palate, Scoliosis, Attention deficit hyperactivity diso... OMIM:618825
Microgastria-Limb Reduction Defect Syndrome
Abnormal finger morphology, Gastroesophageal reflux, Microgastria, Multicystic kidney dysplasia, ... ORPHA:2538
3P25.3 Microdeletion Syndrome
Sacral dimple, Broad hallux, Overlapping toe, Proximal placement of thumb, Tapered finger, Postax... ORPHA:435638
Chromosome 5P13 Duplication Syndrome
Posteriorly rotated ears, Long fingers, Self-injurious behavior, Large hands, High palate, Low-se... OMIM:613174
Craniometadiaphyseal Dysplasia, Wormian Bone Type
Osteopenia, Increased bone mineral density, Vertebral arch anomaly, Wormian bones, Broad ribs ORPHA:85184
Three M Syndrome 2
Scapular winging, Lumbar hyperlordosis, Short neck, Hyperlordosis, Delayed skeletal maturation, S... OMIM:612921
Cornelia De Lange Syndrome 5
Postnatal growth retardation, Short stature, Brachycephaly OMIM:300882
Cornelia De Lange Syndrome 3 With Or Without Midline Brain Defects
Frontal bossing, Ventricular septal defect, Bicuspid aortic valve, Short stature, Brachycephaly, ... OMIM:610759
Gorlin-Chaudhry-Moss Syndrome
Short stature, Patent ductus arteriosus, Brachycephaly, Umbilical hernia, Coronal craniosynostosis ORPHA:2095
N-Acetylaspartate Deficiency
Abnormal repetitive mannerisms, Self-mutilation OMIM:614063
Peutz-Jeghers Syndrome
Rectal prolapse, Abnormality of the ureter, Multiple gastric polyps, Clubbing, Hamartomatous poly... OMIM:175200
Chronic Nonbacterial Osteomyelitis/Chronic Recurrent Multifocal Osteomyelitis
Osteomyelitis, Abnormal sacroiliac joint morphology, Craniofacial osteosclerosis, Bone pain, Oste... ORPHA:324964
Intellectual Disability-Obesity-Brain Malformations-Facial Dysmorphism Syndrome
Brachycephaly ORPHA:352530
Hand-Foot-Genital Syndrome
Shortening of all middle phalanges of the fingers, Recurrent urinary tract infections, Sacral dim... ORPHA:2438
Achondrogenesis, Type Ii
Barrel-shaped chest, Absent vertebral body mineralization, Short ribs, Horizontal ribs OMIM:200610
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 7
Restlessness, Urinary incontinence, Aggressive behavior, Inappropriate behavior, Disinhibition, A... OMIM:600795
Familial Osteodysplasia, Anderson Type
Recurrent fractures, Aplastic clavicle, Missing ribs, Elbow dislocation, Kyphosis, Abnormal rib m... ORPHA:2769
Chromosome 17P13.1 Deletion Syndrome
Turricephaly, Spina bifida, Brachycephaly, Plagiocephaly, Umbilical hernia OMIM:613776
Alkuraya-Kucinskas Syndrome
Pericardial effusion, Plagiocephaly