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Gene: Axin1 MGI:1096327

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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

Order Alleles

IMPC Data Collections

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

IMPC Phenotype Summary

Significant
Not Significant
Not tested

View all our phenotype data below

Phenotypes

The IMPC applies a panel of phenotyping screens to characterise single-gene knockout mice by comparison to wild types. Click on the different tabs to visualise significant phenotypes identified by the IMPC, as well as all data that was measured.

lacZ Expression

Expression data not available

Associated Images

Images submitted by IMPC centres for a selection of procedures. Each set of images is available to view in our image comparator.

Phenotype associated images not available

Human diseases caused by 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 OMIM:617822
2Q32Q33 Microdeletion Syndrome
Growth delay, Short stature, Brachycephaly ORPHA:251019
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome
11 pairs of ribs, Hypoplasia of penis, Hypospadias, Esophageal atresia, Hemivertebrae, Tracheoeso... ORPHA:77298
Baller-Gerold Syndrome
Aplasia/Hypoplasia of the thumb, Bowing of the long bones, Malabsorption, Aplasia/Hypoplasia of t... ORPHA:1225
Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities
Hyperactivity, Abnormal repetitive mannerisms, Aggressive behavior OMIM:619470
Shukla-Vernon Syndrome
Impulsivity, Aggressive behavior, Pectus excavatum, Long fingers, Tapered finger, Attention defic... OMIM:301029
Cantú Syndrome
Ovoid vertebral bodies, Short neck, Accelerated skeletal maturation, Delayed skeletal maturation,... ORPHA:1517
Intellectual Developmental Disorder, Autosomal Dominant 58
Plagiocephaly, Short stature OMIM:618106
Pallister-Hall Syndrome
Ectopic kidney, Hemivertebrae, Micropenis, Bifid uvula, Paroxysmal bursts of laughter, Low-set, p... ORPHA:672
Intellectual Developmental Disorder With Autistic Features And Language Delay, With Or Without Seizures
Attention deficit hyperactivity disorder, Abnormal repetitive mannerisms, Scoliosis OMIM:618906
Chromosome 15Q11.2 Deletion Syndrome
Plagiocephaly, Short stature, Abnormal heart morphology OMIM:615656
Crouzon Syndrome
Frontal bossing, Sagittal craniosynostosis, Hydrocephalus, Brachycephaly, Lambdoidal craniosynost... OMIM:123500
Mucolipidosis Iii Alpha/Beta
Craniosynostosis, Irregular carpal bones, Short ribs, Scoliosis, Broad ribs, Shallow acetabular f... OMIM:252600
Multiple Pterygium-Malignant Hyperthermia Syndrome
Plagiocephaly, Severe short stature, Midface retrusion, Dolichocephaly ORPHA:2215
Intellectual Developmental Disorder, Autosomal Dominant 7
Hallux valgus, Hyperactivity, Abnormal pinna morphology, Pectus excavatum, Inappropriate laughter... OMIM:614104
Linear Nevus Sebaceus Syndrome
Frontal bossing, Prominent occiput, Plagiocephaly, Growth delay, Biparietal narrowing ORPHA:2612
Kury-Isidor Syndrome
Growth delay, Frontal bossing, Ventricular septal defect, Brachycephaly OMIM:619762
Neurodevelopmental Disorder With Intention Tremor, Pyramidal Signs, Dyspraxia, And Ocular Anomalies
Ventricular septal defect, Brachycephaly, Short stature, Dextrotransposition of the great arteries OMIM:619995
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome
Lumbar hyperlordosis, Arachnodactyly, Bilateral renal dysplasia, Unilateral renal agenesis, Kypho... ORPHA:500150
Hyperphosphatasia-Intellectual Disability Syndrome
Plagiocephaly, Growth delay, Abnormal parietal bone morphology, Brachycephaly ORPHA:247262
Temtamy Preaxial Brachydactyly Syndrome
Plagiocephaly OMIM:605282
Bent Bone Dysplasia Syndrome 2
Osteopenia, Short neck, Thin ribs, Coronal cleft vertebrae, Platyspondyly, Decreased calvarial os... OMIM:620076
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type
Platyspondyly, Thin ribs ORPHA:163966
Menkes Disease
Intrauterine growth retardation, Short stature, Brachycephaly OMIM:309400
Congenital Osteogenesis Imperfecta-Microcephaly-Cataracts Syndrome
Joint hyperflexibility, Decreased calvarial ossification, Abnormal rib morphology, Recurrent frac... ORPHA:2772
Neurodevelopmental Disorder With Or Without Hyperkinetic Movements And Seizures, Autosomal Recessive
Self-injurious behavior, Abnormal repetitive mannerisms OMIM:617820
Lujan-Fryns Syndrome
Atrial septal defect, Brachycephaly ORPHA:776
Vacterl Association, X-Linked, With Or Without Hydrocephalus
Short humerus, Sacral dimple, Proximal placement of thumb, Absent radius, Esophageal atresia, Tra... OMIM:314390
Galloway-Mowat Syndrome 6
Proteinuria, Nephrotic syndrome, Focal segmental glomerulosclerosis, High palate, Clinodactyly of... OMIM:618347
Microphthalmia, Syndromic 1
High, narrow palate, Rectal prolapse, High palate, Narrow chest, Prominent fingertip pads, Self-m... OMIM:309800
Prune Belly Syndrome
Hydroureter, Pectus excavatum, Xerostomia, Pectus carinatum, Congenital posterior urethral valve,... OMIM:100100
Achard Syndrome
Broad skull, Brachycephaly OMIM:100700
Antley-Bixler Syndrome Without Genital Anomalies Or Disordered Steroidogenesis
Frontal bossing, Hydrocephalus, Brachycephaly, Lambdoidal craniosynostosis, Atrial septal defect,... OMIM:207410
Microphthalmia With Cyst, Bilateral Facial Clefts, And Limb Anomalies
Frontal bossing, Brachyturricephaly, Ethmoidal encephalocele OMIM:607597
Uruguay Faciocardiomusculoskeletal Syndrome
Ventricular hypertrophy, Left atrial enlargement, Cardiomegaly, Cardiomyopathy, Left ventricular ... OMIM:300280
Spondylometaphyseal Dysplasia, Algerian Type
Lumbar hyperlordosis, Anterior rib cupping, Kyphoscoliosis, Genu valgum, Platyspondyly, Carpal bo... OMIM:184253
Mitochondrial Dna Depletion Syndrome 13 (Encephalomyopathic Type)
Plagiocephaly, Hypertrophic cardiomyopathy, Growth delay OMIM:615471
Ossification Anomalies-Psychomotor Developmental Delay Syndrome
Abnormal thorax morphology, Metaphyseal widening, Abnormal form of the vertebral bodies, Thin rib... ORPHA:73230
Vulto-Van Silfhout-De Vries Syndrome
Frontal bossing, Brachycephaly OMIM:615828
Micrognathia-Recurrent Infections-Behavioral Abnormalities-Mild Intellectual Disability Syndrome
Urinary incontinence, Tapered finger, Pectus excavatum, Kyphosis, Unilateral radial aplasia, Part... ORPHA:476126
Rhizomelic Skeletal Dysplasia With Or Without Pelger-Huet Anomaly
Joint dislocation, Thoracolumbar scoliosis, Ovoid vertebral bodies, Hyperlordosis, Horizontal rib... OMIM:618019
Developmental And Epileptic Encephalopathy 84
Plagiocephaly OMIM:618792
Intellectual Developmental Disorder With Abnormal Behavior, Microcephaly, And Short Stature
Hyperactivity, Aggressive behavior, Sensorineural hearing impairment, Protruding ear, High palate... OMIM:618342
Xq28 (MECP2) duplication
Functional abnormality of the bladder, Gastroesophageal reflux, Dysphagia, Macrotia, Abnormal rep... DECIPHER:45
Restrictive Dermopathy 2
Rectal prolapse, Gastroesophageal reflux, Short clavicles OMIM:619793
Anophthalmia-Megalocornea-Cardiopathy-Skeletal Anomalies Syndrome
Plagiocephaly, Umbilical hernia, Tricuspid valve prolapse, Dolichocephaly ORPHA:1101
Hypomandibular Faciocranial Dysostosis
Trigonocephaly, Craniosynostosis, Patent ductus arteriosus, Brachycephaly, Atrial septal defect, ... ORPHA:1790
Metaphyseal Dysostosis, Impaired Intellectual Development, And Conductive Deafness
Joint laxity, Lumbar hyperlordosis, Cupped ribs, Flat glenoid fossa, Irregular chondrocostal junc... OMIM:250420
Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities
Hydrocephalus, Short stature, Brachycephaly OMIM:109120
Contractural Arachnodactyly, Congenital
Frontal bossing, Ventricular septal defect, Bicuspid aortic valve, Patent ductus arteriosus, Scap... OMIM:121050
Chromosome 13Q33-Q34 Deletion Syndrome
Encephalocele, Short stature, Trigonocephaly, Patent ductus arteriosus, Anencephaly, Brachycephal... OMIM:619148
Aica-Ribosuria Due To Atic Deficiency
Secundum atrial septal defect, Frontal bossing, Brachycephaly OMIM:608688
Neurodevelopmental Disorder With Behavioral Abnormalities, Absent Speech, And Hypotonia
Hyperactivity, Self-injurious behavior, Low-set ears, Bruxism, Abnormal repetitive mannerisms, Pa... OMIM:618718
Waardenburg Syndrome, Type 1
Sprengel anomaly, Supernumerary ribs, Supernumerary vertebrae OMIM:193500
Neurofaciodigitorenal Syndrome
Plagiocephaly, Intrauterine growth retardation, Short stature, Brachycephaly ORPHA:2673
Severe Intellectual Disability-Short Stature-Behavioral Abnormalities-Facial Dysmorphism Syndrome
Hyperactivity, Kyphoscoliosis, Aggressive behavior, 2-3 toe syndactyly, Scoliosis, Macrotia, Abno... ORPHA:391307
2Q23.1 Microdeletion Syndrome
Growth delay, Short stature, Brachycephaly ORPHA:228402
Kleefstra Syndrome
Hypoplasia of penis, Renal insufficiency, Hypospadias, Thickened helices, Aggressive behavior, Py... ORPHA:261494
19P13.12 Microdeletion Syndrome
Ventricular septal defect, Craniosynostosis, Brachycephaly, Atrial septal defect, Intrauterine gr... ORPHA:254346
Encephalopathy, Progressive, Early-Onset, With Brain Atrophy And Thin Corpus Callosum
Plagiocephaly, Frontal bossing, Growth delay OMIM:617193
Intellectual Developmental Disorder, Autosomal Dominant 53
Growth delay, Posterior plagiocephaly, Ventricular septal defect, Brachycephaly OMIM:617798
Intellectual Developmental Disorder, Autosomal Dominant 23
Brachycephaly OMIM:615761
Kleefstra Syndrome Due To 9Q34 Microdeletion
Flat occiput, Brachycephaly, Conotruncal defect, Growth delay, Abnormal cardiac septum morphology... ORPHA:96147
Splenogonadal Fusion-Limb Defects-Micrognathia Syndrome
Plagiocephaly ORPHA:2063
Monosomy 18P
Brachycephaly, Short stature, Holoprosencephaly ORPHA:1598
Radio-Renal Syndrome
Multicystic kidney dysplasia, Renal agenesis, Micromelia, Renal hypoplasia/aplasia, Short neck, H... ORPHA:3015
Marden-Walker Syndrome
Epispadias, Abnormal form of the vertebral bodies, Pectus carinatum, Bifid uvula, Abnormal penis ... ORPHA:2461
2Q37 Microdeletion Syndrome
Finger syndactyly, Multicystic kidney dysplasia, Short metacarpal, Toe syndactyly, Short neck, Py... ORPHA:1001
Spondylometaphyseal Dysplasia, Sedaghatian Type
Abnormal scapula morphology, Accelerated skeletal maturation, Delayed skeletal maturation, Abnorm... ORPHA:93317
Cortical Dysgenesis With Pontocerebellar Hypoplasia Due To Tubb3 Mutation
Plagiocephaly, Postnatal growth retardation, Flat occiput ORPHA:300570
Coffin-Siris Syndrome 7
Brachydactyly, Hyperactivity, Posteriorly rotated ears, Severe temper tantrums, Pectus excavatum,... OMIM:618027
Oculoauriculovertebral Spectrum With Radial Defects
Aplasia/Hypoplasia of the thumb, Distal urethral duplication, Renal hypoplasia/aplasia, Abnormali... ORPHA:2549
Duane Retraction Syndrome
Short neck, Spina bifida occulta, Abnormal form of the vertebral bodies, Camptodactyly, Abnormal ... ORPHA:233
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked
Hemivertebrae, Gastroesophageal reflux, Micropenis, Abnormal repetitive mannerisms, Hypospadias, ... OMIM:301040
Pontocerebellar Hypoplasia, Type 11
Self-injurious behavior, Talipes equinovarus, Attention deficit hyperactivity disorder, Dysphagia... OMIM:617695
Cloacal Exstrophy
Hypoplasia of penis, Hydroureter, Intestinal malrotation, Ectopic kidney, Renal hypoplasia/aplasi... ORPHA:93929
Developmental Delay, Behavioral Abnormalities, And Neuropsychiatric Disorders
Abnormal repetitive mannerisms, Attention deficit hyperactivity disorder OMIM:620065
Craniometadiaphyseal Dysplasia
Osteopenia, Cubitus valgus, Genu valgum, Sclerosis of skull base, Scoliosis, Wormian bones, Broad... OMIM:269300
Brunet-Wagner Neurodevelopmental Syndrome
Self-injurious behavior, Abnormal repetitive mannerisms OMIM:619690
Cerebellar Ataxia-Hypogonadism Syndrome
Short stature, Brachycephaly ORPHA:1173
Czeizel-Losonci Syndrome
Low-set, posteriorly rotated ears, Hitchhiker thumb, Thoracolumbar scoliosis, 2-3 finger syndacty... ORPHA:2437
Aredyld Syndrome
Low-set, posteriorly rotated ears, Abnormality of the ureter, Abnormal tragus morphology, Scolios... ORPHA:1133
Gillessen-Kaesbach-Nishimura Syndrome
Brachycephaly, Abnormal heart morphology OMIM:263210
Hao-Fountain Syndrome Due To 16P13.2 Microdeletion
Plagiocephaly, Short stature, Brachycephaly ORPHA:500055
Diphallia
Abnormality of the gastrointestinal tract, Ureteral duplication, Renal malrotation, Rectoperineal... ORPHA:227
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome
Aplasia/Hypoplasia of the ribs, Thoracic scoliosis, Cervical hemivertebrae, Short neck, Pectus ex... ORPHA:508498
Aica-Ribosiduria
Brachycephaly ORPHA:250977
Developmental And Epileptic Encephalopathy 30
Abnormal repetitive mannerisms OMIM:616341
Marbach-Schaaf Neurodevelopmental Syndrome
Plagiocephaly OMIM:619680
Msh3-Related Attenuated Familial Adenomatous Polyposis
Juvenile gastrointestinal polyposis, Adenomatous colonic polyposis, Multiple gastric polyps, Rena... ORPHA:480536
Acromelic Frontonasal Dysplasia
Encephalocele, Meningocele, Brachycephaly ORPHA:1827
Congenital Disorder Of Glycosylation, Type Iia
Posteriorly rotated ears, Thoracolumbar kyphoscoliosis, Proximal placement of thumb, Short neck, ... OMIM:212066
Myhre Syndrome
Vertebral fusion, Short neck, Joint stiffness, Limitation of joint mobility, Enlarged vertebral p... OMIM:139210
Opitz-Kaveggia Syndrome
Frontal bossing, Short stature, Abnormal heart morphology, Plagiocephaly, Umbilical hernia OMIM:305450
Distal Deletion 10Q
Frontal bossing, Short stature, Craniosynostosis, Postnatal growth retardation, Patent ductus art... ORPHA:96148
Cartilage-Hair Hypoplasia
Micromelia, Short neck, Metaphyseal chondrodysplasia, Abnormal form of the vertebral bodies, Pect... ORPHA:175
Distal Deletion 3P
Short stature, Brachycephaly, Umbilical hernia, Atrioventricular canal defect, Intrauterine growt... ORPHA:1620
Sillence Syndrome
Back pain, Flat acetabular roof, Platyspondyly, Scoliosis, Camptodactyly, Abnormal vertebral morp... ORPHA:3168
Microcephalic Primordial Dwarfism, Toriello Type
Delayed skeletal maturation, Abnormal rib morphology ORPHA:2643
Greenberg Dysplasia
Beaded ribs, Multiple prenatal fractures, Patchy variation in bone mineral density, Hypoplastic v... OMIM:215140
Chromosome 14Q11-Q22 Deletion Syndrome
Ventricular septal defect, Proportionate short stature, Plagiocephaly, Growth delay, Patent foram... OMIM:613457
Juvenile Polyposis Of Infancy
Gastrointestinal hemorrhage, High, narrow palate, Rectal prolapse, Adenomatous colonic polyposis,... ORPHA:79076
Aymé-Gripp Syndrome
Pericarditis, Short stature, Craniosynostosis, Pericardial effusion, Postnatal growth retardation... ORPHA:1272
Neurodevelopmental Disorder With Hypotonia, Dysmorphic Facies, And Skeletal Anomalies, With Or Without Seizures
Plagiocephaly, Turricephaly, Midface retrusion OMIM:620224
Saethre-Chotzen Syndrome
Plagiocephaly, Short stature, Brachycephaly, Craniosynostosis ORPHA:794
Acro-Renal-Ocular Syndrome
Vertebral fusion, Vertebral segmentation defect ORPHA:959
Hypophosphatasia
Recurrent fractures, Abnormal rib morphology, Narrow chest, Craniosynostosis ORPHA:436
Pde4D Haploinsufficiency Syndrome
Frontal bossing, Postnatal growth retardation, Brachycephaly, Intrauterine growth retardation, Th... ORPHA:439822
Schwartz-Jampel Syndrome
Micromelia, Short neck, Coxa vara, Pectus carinatum, High palate, Low-set, posteriorly rotated ea... ORPHA:800
Behavioral Variant Of Frontotemporal Dementia
Restrictive behavior, Collectionism, Restlessness, Aggressive behavior, Inappropriate behavior, D... ORPHA:275864
Larsen-Like Syndrome
Frontal bossing, Short stature, Brachycephaly OMIM:608545
Neurodevelopmental Disorder With Dysmorphic Facies, Impaired Speech, And Hypotonia
Plagiocephaly, Frontal bossing, Intrauterine growth retardation, Dolichocephaly OMIM:619005
Duane-Radial Ray Syndrome
Fused cervical vertebrae, Shoulder dislocation, Spina bifida occulta, Scoliosis OMIM:607323
X-Linked Intellectual Disability, Wilson Type
Growth delay, Brachycephaly ORPHA:85290
Cdags Syndrome
Frontal bossing, Sagittal craniosynostosis, Parietal foramina, Brachycephaly, Lambdoidal craniosy... OMIM:603116
Apert Syndrome
Vertebral segmentation defect, Cervical C5/C6 vertebrae fusion ORPHA:87
Phelan-Mcdermid Syndrome
Sacral dimple, Abnormality of the kidney, Aggressive behavior, Tongue thrusting, 2-3 toe syndacty... OMIM:606232
Williams Syndrome
Hypoplasia of penis, Rectal prolapse, Abnormal tubulointerstitial morphology, Abnormal form of th... ORPHA:904
Raine Syndrome
Short stature, Brachycephaly, Plagiocephaly, Brachyturricephaly, Midface retrusion OMIM:259775
Intellectual Developmental Disorder With Microcephaly And Pontine And Cerebellar Hypoplasia
Plagiocephaly, Postnatal growth retardation, Short stature OMIM:300749
Radio-Tartaglia Syndrome
Brachydactyly, Impulsivity, Tapered finger, Aggressive behavior, High, narrow palate, Large earlo... OMIM:619312
Developmental Delay With Hypotonia, Myopathy, And Brain Abnormalities
Brachycephaly OMIM:620240
Cleidocranial Dysplasia
High, narrow palate, Coxa vara, Glossoptosis, Narrow chest, Chronic otitis media, Clinodactyly of... ORPHA:1452
Craniosynostosis-Anal Anomalies-Porokeratosis Syndrome
Frontal bossing, Parietal foramina, Brachycephaly, Plagiocephaly, Coronal craniosynostosis ORPHA:85199
Urofacial Syndrome 1
Recurrent urinary tract infections, Hydroureter, Urethral valve, Urethral obstruction, Enuresis, ... OMIM:236730
Beck-Fahrner Syndrome
Ventricular septal defect, Brachycephaly, Cardiomegaly OMIM:618798
Pfeiffer Syndrome Type 1
Aqueductal stenosis, Brachycephaly, Bicoronal synostosis, Midface retrusion ORPHA:93258
Simpson-Golabi-Behmel Syndrome
Vertebral fusion, Congenital hip dislocation, Camptodactyly of finger, Short neck, Pectus excavat... ORPHA:373
Symptomatic Form Of Fragile X Syndrome In Female Carriers
Hyperactivity, Aggressive behavior, Self-injurious behavior, Gastroesophageal reflux, Scoliosis, ... ORPHA:449291
Oeis Complex
Duplicated collecting system, 11 pairs of ribs, Absence of the sacrum, Hydroureter, Renal agenesi... OMIM:258040
Frontometaphyseal Dysplasia 2
Hip contracture, Congenital hip dislocation, Elbow contracture, Pectus excavatum, Fused cervical ... OMIM:617137
Apert Syndrome
Limited elbow movement, Sagittal craniosynostosis, Craniosynostosis, Delayed epiphyseal ossificat... OMIM:101200
X-Linked Hypophosphatemia
Craniosynostosis, Beaded ribs, Enlargement of the costochondral junction, Sacroiliac joint synovi... ORPHA:89936
Cerebrocostomandibular Syndrome
Ectopic kidney, Renal cyst, Anteriorly placed anus, Glossoptosis, High palate, Gastroesophageal r... OMIM:117650
Coffin-Lowry Syndrome
Hyperextensibility of the finger joints, Short metacarpal, Tapered finger, Pectus excavatum, Kyph... OMIM:303600
Kleefstra Syndrome 1
Brachydactyly, Hypospadias, Abnormal pinna morphology, Protruding tongue, Aggressive behavior, Ab... OMIM:610253
Pyknoachondrogenesis
Abnormal intramembranous ossification, Short thorax, Poorly ossified vertebrae, Enlarged thorax, ... ORPHA:3003
Acrocapitofemoral Dysplasia
Micromelia, Short proximal phalanx of thumb, Coxa vara, Pectus carinatum, Narrow chest, Short pal... OMIM:607778
Kinsship Syndrome
Sacral dimple, Short neck, Coxa valga, Abnormal repetitive mannerisms, Renal hypoplasia, Horsesho... OMIM:619297
Tetraamelia-Multiple Malformations Syndrome
Abnormally ossified vertebrae, Abnormal rib morphology, Missing ribs ORPHA:3301
Stevenson-Carey Syndrome
Atrial septal defect, Brachycephaly OMIM:611961
Cornelia De Lange Syndrome 4 With Or Without Midline Brain Defects
Short stature, Brachycephaly, Lobar holoprosencephaly, Skull asymmetry, Tetralogy of Fallot OMIM:614701
Intellectual Developmental Disorder, Autosomal Dominant 45
Hyperactivity, Arachnodactyly, Scoliosis, Attention deficit hyperactivity disorder, Recurrent han... OMIM:617600
Intellectual Developmental Disorder, Autosomal Recessive 41
Self-injurious behavior, High palate, Clinodactyly of the 5th finger, Prominent fingertip pads, A... OMIM:615637
Alazami Syndrome
Abnormal eating behavior, Low-set ears, Scoliosis, Abnormal repetitive mannerisms, Self-mutilatio... ORPHA:319671
46,Xx Difference Of Sex Development-Anorectal Anomalies Syndrome
Anal atresia, Multicystic kidney dysplasia, Hydroureter, Intestinal malrotation, Renal hypoplasia... ORPHA:2973
Intellectual Developmental Disorder, Autosomal Recessive 71
Unilateral renal agenesis, Attention deficit hyperactivity disorder, Micropenis, Macrotia, Abnorm... OMIM:618504
Neurodevelopmental Disorder With Dysmorphic Facies, Sleep Disturbance, And Brain Abnormalities
Recurrent urinary tract infections, Hypospadias, Submucous cleft hard palate, Horseshoe kidney, H... OMIM:619103
Xy Type Gonadal Dysgenesis-Associated Anomalies Syndrome
Low-set, posteriorly rotated ears, Renal hypoplasia/aplasia, Abnormality of the ureter, Cleft pal... ORPHA:1770
Trisomy 1Q
Multicystic kidney dysplasia, Toe syndactyly, Arachnodactyly, Camptodactyly of finger, Preaxial h... ORPHA:261344
Alg12-Cdg
Muscular ventricular septal defect, Biventricular hypertrophy, Posterior plagiocephaly, Intrauter... ORPHA:79324
Mosaic Variegated Aneuploidy Syndrome 1
Short stature, Postnatal growth retardation, Hydrocephalus, Brachycephaly, Pulmonic stenosis, Atr... OMIM:257300
Williams-Beuren Syndrome
Rectal prolapse, Nephrocalcinosis, Gastroesophageal reflux, Vesicoureteral reflux, Clinodactyly o... OMIM:194050
Intellectual Developmental Disorder, Autosomal Dominant 30, With Speech Delay And Behavioral Abnormalities
Brachycephaly OMIM:616083
Mesomelic Dysplasia, Nievergelt Type
Mesomelic short stature, Brachycephaly, Dolichocephaly ORPHA:2633
Radiation Proctitis
Intestinal obstruction, Rectal fistula, Abnormal gastrointestinal vascular morphology, Hematochez... ORPHA:70475
Carey-Fineman-Ziter Syndrome 1
Plagiocephaly, Abnormal cardiac septum morphology, Growth delay OMIM:254940
Pick Disease Of Brain
Abnormal repetitive mannerisms, Polyphagia, Inappropriate laughter, Disinhibition OMIM:172700
Intellectual Developmental Disorder, X-Linked, Syndromic, Lubs Type
Hypospadias, Repetitive compulsive behavior, 2-3 toe cutaneous syndactyly, Bruxism, Short foot, H... OMIM:300260
Duplication Of Urethra
Urethral stricture, Recurrent urinary tract infections, Anuria, Hypospadias, Urinary incontinence... ORPHA:237
Gapo Syndrome
Plagiocephaly, Umbilical hernia, Growth delay, Frontal bossing OMIM:230740
Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency
Ventricular septal defect, Brachycephaly, Abnormal heart morphology ORPHA:404440
Kyphomelic Dysplasia
Anterior rib cupping, Lateral clavicle hook, Limitation of joint mobility, Undulate ribs, Flat ac... OMIM:211350
Dyrk1A-Related Intellectual Disability Syndrome
Renal cyst, Protruding ear, Gastroesophageal reflux, Clinodactyly of the 5th finger, Micropenis, ... ORPHA:464306
Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Impaired Intellectual Development, And Ear Anomalies Syndrome
Frontal bossing, Ventricular septal defect, Brachycephaly, Plagiocephaly, Transposition of the gr... OMIM:280000
Schinzel-Giedion Syndrome
Abnormal clavicle morphology, Short neck, Renal cyst, Tibial bowing, Anteriorly placed anus, High... ORPHA:798
Neurodevelopmental Disorder With Language Delay And Behavioral Abnormalities, With Or Without Seizures
Hyperactivity, Aggressive behavior, Gastroesophageal reflux, Attention deficit hyperactivity diso... OMIM:620292
Early-Onset Progressive Diffuse Brain Atrophy-Microcephaly-Muscle Weakness-Optic Atrophy Syndrome
Plagiocephaly, Growth delay ORPHA:496641
Chromosome 4Q32.1-Q32.2 Triplication Syndrome
Plagiocephaly, Frontal bossing, Turricephaly OMIM:613603
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects
Frontal bossing, Bicuspid aortic valve, Short stature, Craniosynostosis, Cardiomegaly, Rhizomelia... OMIM:245600
Acrofrontofacionasal Dysostosis
Short stature, Brachycephaly, Midface retrusion ORPHA:1784
White-Sutton Syndrome
Duplicated collecting system, Overfriendliness, Hyperactivity, Posteriorly rotated ears, Short ne... OMIM:616364
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome
Frontal bossing, Craniosynostosis, Postnatal growth retardation, Mitral valve prolapse, Plagiocep... ORPHA:536467
Osteogenesis Imperfecta, Type Xii
Brachyturricephaly, Short stature, Midface retrusion OMIM:613849
Neurodevelopmental Disorder With Language Impairment And Behavioral Abnormalities
Self-injurious behavior, Talipes equinovarus, Compulsive behaviors, Abnormal repetitive mannerism... OMIM:618917
Cranioectodermal Dysplasia 2
Frontal bossing, Cloverleaf skull, Short stature, Rhizomelia, Craniosynostosis, Plagiocephaly, Do... OMIM:613610
Trichohepatoneurodevelopmental Syndrome
Plagiocephaly, Ventricular septal defect, Brachycephaly, Midface retrusion OMIM:618268
Developmental And Epileptic Encephalopathy 6B
Abnormal repetitive mannerisms, Scoliosis OMIM:619317
Dextrocardia
Intestinal malrotation, Abnormal renal morphology, Abnormal rib morphology, Abnormality of the ur... ORPHA:1666
Neurodevelopmental, Jaw, Eye, And Digital Syndrome
Sandal gap, Impulsivity, Aggressive behavior, Cupped ear, Renal hypoplasia, 2-3 toe syndactyly, S... OMIM:618914
Hurler Syndrome
Abnormal clavicle morphology, Camptodactyly of finger, Short neck, Limitation of joint mobility, ... ORPHA:93473
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly
Intestinal malrotation, Hamartoma of tongue, Lateral clavicle hook, Preaxial hand polydactyly, Po... OMIM:263520
9P13 Microdeletion Syndrome
Umbilical hernia, Short stature, Brachycephaly ORPHA:324313
Hallermann-Streiff Syndrome
Frontal bossing, Proportionate short stature, Spina bifida, Scaphocephaly, Brachycephaly, Thin ca... OMIM:234100
Osteogenesis Imperfecta, Type Vii
Osteopenia, Multiple rib fractures, Wide cranial sutures, Recurrent fractures, Protrusio acetabul... OMIM:610682
Holt-Oram Syndrome
Thoracic scoliosis, Pectus excavatum, Limited elbow extension, Abnormal carpal morphology, Short ... OMIM:142900
Meier-Gorlin Syndrome 1
Genu recurvatum, Lateral clavicle hook, Flat glenoid fossa, Hemivertebrae, Flexion contracture, P... OMIM:224690
Joubert Syndrome 1
Plagiocephaly, Occipital myelomeningocele OMIM:213300
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation
Flexion contracture of finger, Hypospadias, Unilateral renal agenesis, Tapered finger, Pectus exc... ORPHA:464311
Rauch-Steindl Syndrome
Attached earlobe, Sacral dimple, Hyperactivity, Aggressive behavior, Prominent crus of helix, Bil... OMIM:619695
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome
Short neck, Hypertrophy of the urinary bladder, Large fleshy ears, High palate, Gastroesophageal ... ORPHA:280633
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome
Increased intervertebral space, Thoracolumbar kyphosis, Short phalanx of finger, Abnormality of t... ORPHA:508533
Occipital Horn Syndrome
Joint laxity, Persistent open anterior fontanelle, Broad clavicles, Pectus excavatum, Kyphosis, C... OMIM:304150
Atelosteogenesis Type Ii
Plagiocephaly, Rhizomelic arm shortening, Rhizomelia, Midface retrusion ORPHA:56304
Agenesis Of The Corpus Callosum With Peripheral Neuropathy
Brachycephaly OMIM:218000
Vater/Vacterl Association
Ectopic kidney, Preaxial polydactyly, Abnormal sternum morphology, Patent urachus, Triphalangeal ... OMIM:192350
Primary Dystonia, Dyt13 Type
Abnormal repetitive mannerisms ORPHA:98807
Saethre-Chotzen Syndrome
Short stature, Parietal foramina, Oxycephaly, Brachycephaly, Abnormal heart morphology, Plagiocep... OMIM:101400
Renal Dysplasia
Abnormal renal calyx morphology, Urinary incontinence, Functional abnormality of the bladder, Ure... ORPHA:93108
Acrodysostosis 1 With Or Without Hormone Resistance
Mild postnatal growth retardation, Short stature, Hydrocephalus, Brachycephaly, Disproportionate ... OMIM:101800
Frontonasal Dysplasia 3
Brachycephaly OMIM:613456
Intellectual Developmental Disorder, X-Linked 98
Hyperactivity, Steroid-dependent nephrotic syndrome, Urinary incontinence, Aggressive behavior, B... OMIM:300912
Weill-Marchesani Syndrome 1
Ventricular septal defect, Short stature, Proportionate short stature, Broad skull, Patent ductus... OMIM:277600
Neurodevelopmental Disorder With Hypotonia And Brain Abnormalities
Frontal bossing, Brachycephaly, Plagiocephaly, Atrial septal defect, Midface retrusion OMIM:619512
Pitt-Hopkins Syndrome
Prominent fingertip pads, Sacral dimple, Short fourth metatarsal, Overlapping toe, Short fifth me... OMIM:610954
7Q11.23 Microduplication Syndrome
Short neck, Hemivertebrae, High palate, Chronic otitis media, Abnormal repetitive mannerisms, Low... ORPHA:96121
Adnp Syndrome
Short stature, Brachycephaly, Plagiocephaly, Trigonocephaly, Umbilical hernia ORPHA:404448
Au-Kline Syndrome
Craniosynostosis, Sagittal craniosynostosis, Lipomyelomeningocele, Plagiocephaly, Dolichocephaly OMIM:616580
De Barsy Syndrome
Ventricular septal defect, Short stature, Postnatal growth retardation, Patent ductus arteriosus,... ORPHA:2962
Neurodevelopmental Disorder With Dysmorphic Facies And Thin Corpus Callosum
Frontal bossing, Spina bifida, Plagiocephaly, Dolichocephaly, Atrioventricular canal defect OMIM:619480
Abnormal Hair, Joint Laxity, And Developmental Delay
Plagiocephaly OMIM:261990
Hypertelorism-Hypospadias-Polysyndactyly Syndrome
Encephalocele, Brachycephaly, Flat occiput, Exencephaly ORPHA:2211
Chops Syndrome
Tracheomalacia, Cervical C2/C3 vertebral fusion OMIM:616368
Wiedemann-Steiner Syndrome
Aplasia/Hypoplasia of the ribs, Sacral dimple, Hyperactivity, Rhizomelia, Tapered finger, Pectus ... ORPHA:319182
Gastrointestinal Defects And Immunodeficiency Syndrome 1
Intestinal obstruction, Jejunal atresia, Intestinal malrotation, Ileal atresia, Rectal atresia, E... OMIM:243150
Autism, Susceptibility To, 3
Restrictive behavior, Ketonuria, Abnormal repetitive mannerisms, Inflexible adherence to routines OMIM:608049
Foxg1 Syndrome Due To 14Q12 Microdeletion
Kyphosis, Protruding ear, Macroglossia, Abnormal antihelix morphology, Gastroesophageal reflux, S... ORPHA:261144
Chromosome 2P16.1-P15 Deletion Syndrome
Postnatal growth retardation, Intrauterine growth retardation, Short stature, Brachycephaly OMIM:612513
Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum
Ventricular septal defect, Bicuspid aortic valve, Brachycephaly, Mitral valve prolapse, Atrial se... ORPHA:371428
Autosomal Dominant Popliteal Pterygium Syndrome
Popliteal pterygium, Abnormal rib morphology, Scoliosis, Joint stiffness ORPHA:1300
Hyperparathyroidism, Transient Neonatal
Communicating hydrocephalus, Frontal bossing, Patent ductus arteriosus, Brachycephaly, Umbilical ... OMIM:618188
Ochoa Syndrome
Renal insufficiency, Recurrent urinary tract infections, Urinary incontinence, Urethral obstructi... ORPHA:2704
Pelvic Organ Prolapse, Susceptibility To
Rectal prolapse OMIM:176780
Amyotrophic Lateral Sclerosis 10 With Or Without Frontotemporal Dementia
Abnormal repetitive mannerisms, Disinhibition, Dysphagia OMIM:612069
Penile Agenesis
Urethral atresia, male, Hydroureter, Posteriorly rotated ears, Rectal fistula, Fetal pyelectasis,... ORPHA:49
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 3
Restrictive cardiomyopathy, Patent ductus arteriosus, Brachycephaly, Lambdoidal craniosynostosis OMIM:615398
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 1, With Or Without Fractures
Short neck, Delayed proximal femoral epiphyseal ossification, Flexion contracture, Irregular vert... OMIM:271640
Phosphoribosylaminoimidazole Carboxylase Deficiency
Neonatal death, Short stature, Brachycephaly OMIM:619859
Cerebrooculonasal Syndrome
Encephalocele, Frontal bossing, Proboscis, Craniosynostosis, Postnatal growth retardation, Hydroc... OMIM:605627
Acrofrontofacionasal Dysostosis 2
Short stature, Brachycephaly OMIM:239710
X-Linked Intellectual Disability-Short Stature-Overweight Syndrome
High palate, Micropenis, Macrotia, Abnormal repetitive mannerisms, Self-mutilation ORPHA:457240
Juvenile Polyposis Syndrome
Neoplasm of the stomach, Rectal prolapse, Clubbing, Multiple gastric polyps, Hematochezia, Colon ... OMIM:174900
Bladder Exstrophy
Recurrent urinary tract infections, Hypoplasia of penis, Intestinal malrotation, Epispadias, Abno... ORPHA:93930
Hypogonadotropic Hypogonadism 26 With Or Without Anosmia
Anterior plagiocephaly, Bicoronal synostosis, Delayed puberty OMIM:619718
Wieacker-Wolff Syndrome, Female-Restricted
Short stature, Brachycephaly OMIM:301041
Toriello-Lacassie-Droste Syndrome
Abnormal penis morphology, Brachydactyly, Hypospadias, Aganglionic megacolon, Epispadias, Abnorma... ORPHA:3339
Severe Intellectual Disability And Progressive Spastic Paraplegia
Abnormal repetitive mannerisms, High palate ORPHA:280763
Focal Segmental Glomerulosclerosis And Neurodevelopmental Syndrome
Hypospadias, Glomerulonephritis, Proteinuria, Nephrotic syndrome, Glomerular sclerosis, Abnormal ... OMIM:619428
Arboleda-Tham Syndrome
Frontal bossing, Ventricular septal defect, Craniosynostosis, Secundum atrial septal defect, Plag... OMIM:616268
Nabais Sa-De Vries Syndrome, Type 1
Brachycephaly OMIM:618828
Neurodevelopmental Disorder With Hypotonia, Stereotypic Hand Movements, And Impaired Language
2-3 toe syndactyly, Lobulated tongue, Low-set ears, Clinodactyly of the 5th finger, Abnormal repe... OMIM:613443
Antley-Bixler Syndrome
Recurrent fractures, Craniosynostosis, Joint stiffness, Camptodactyly of finger, Abnormal rib mor... ORPHA:83
Warburg Micro Syndrome 4
Severe postnatal growth retardation, Short stature, Brachycephaly OMIM:615663
Neurodevelopmental Disorder With Cardiomyopathy, Spasticity, And Brain Abnormalities
Proximal placement of thumb, Aggressive behavior, 2-3 toe syndactyly, Scoliosis, Attention defici... OMIM:619121
Cystinosis
Renal insufficiency, Proteinuria, Malabsorption, Renal tubular dysfunction, Aminoaciduria, Nephro... ORPHA:213
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome
Long clavicles, Contracture of the distal interphalangeal joint of the fingers, Cleft vertebral a... ORPHA:83617
9Q33.3Q34.11 Microdeletion Syndrome
Plagiocephaly, Brachycephaly ORPHA:495818
Microphthalmia With Linear Skin Defects Syndrome
Abnormal penis morphology, Sacral dimple, Hypospadias, Hearing impairment, Epispadias, Abnormalit... ORPHA:2556
Steinfeld Syndrome
Abnormality of the vertebral column, Abnormal vertebral morphology, Missing ribs OMIM:184705
Neurodevelopmental Disorder With Epilepsy And Hemochromatosis
Plagiocephaly, Short stature, Brachycephaly OMIM:301072
Acrodysostosis
Short stature, Brachycephaly, Midface retrusion ORPHA:950
Hereditary Mixed Polyposis Syndrome
Juvenile colonic polyposis, Rectal polyposis, Adenomatous colonic polyposis, Desmoid tumors, Hema... ORPHA:157794
Mucopolysaccharidosis Type 3
Abnormal clavicle morphology, Abnormal form of the vertebral bodies, Otitis media, Thickened heli... ORPHA:581
20Q11.2 Microduplication Syndrome
Trigonocephaly, Brachycephaly, Growth delay, Severe intrauterine growth retardation ORPHA:363659
Thrombocytopenia-Absent Radius Syndrome
Lateral clavicle hook, Patellar aplasia, Hip dislocation, Abnormal shoulder morphology, Fused cer... OMIM:274000
Snijders Blok-Campeau Syndrome
High palate, Low-set ears, Attention deficit hyperactivity disorder, Scoliosis, Abnormal repetiti... OMIM:618205
Hunter-Macdonald Syndrome
Bicuspid aortic valve, Short stature, Patent ductus arteriosus, Brachycephaly, Mitral valve prola... OMIM:611962
Down Syndrome
Umbilical hernia, Brachycephaly ORPHA:870
Nestor-Guillermo Progeria Syndrome
Wide cranial sutures, Limited elbow movement, Delayed closure of the anterior fontanelle, Joint s... OMIM:614008
Congenital Disorder Of Glycosylation, Type Iq
Brachycephaly OMIM:612379
Megalocornea-Intellectual Disability Syndrome
Tapered finger, Kyphosis, Sensorineural hearing impairment, Protruding ear, High palate, Scoliosi... ORPHA:2479
Humeroradial Synostosis
Brachycephaly OMIM:236400
Shiga Toxin-Associated Hemolytic Uremic Syndrome
Anuria, Intestinal perforation, Rectal prolapse, Colonic stenosis, Hemoglobinuria, Acute kidney i... ORPHA:90038
Weill-Marchesani Syndrome 2
Ventricular septal defect, Short stature, Proportionate short stature, Broad skull, Patent ductus... OMIM:608328
Aspergillosis
Abnormality of the vertebral column, Abnormal rib morphology, Osteomyelitis ORPHA:1163
Townes-Brocks Syndrome
Hypoplasia of penis, Ectopic kidney, Anteriorly placed anus, Triphalangeal thumb, Vesicoureteral ... ORPHA:857
Macrocephaly-Intellectual Disability-Left Ventricular Non Compaction Syndrome
Thickened calvaria, Frontal bossing, Ventricular septal defect, Abnormal left ventricle morpholog... ORPHA:466791
Den Hoed-De Boer-Voisin Syndrome
Intrauterine growth retardation, Brachycephaly, Ventricular septal defect, Midface retrusion OMIM:619229
Oculocerebrofacial Syndrome, Kaufman Type
Growth delay, Flat occiput, Brachycephaly ORPHA:2707
Turnpenny-Fry Syndrome
Frontal bossing, Brachycephaly, Mitral valve prolapse, Plagiocephaly, Tricuspid valve prolapse, A... OMIM:618371
Thin Ribs-Tubular Bones-Dysmorphism Syndrome
Abnormal rib morphology ORPHA:1506
Cleft Lip/Palate-Ectodermal Dysplasia Syndrome
Finger syndactyly, Toe syndactyly, Hyperlordosis, Abnormality of the ureter, Protruding ear, Bila... ORPHA:3253
Neurodevelopmental Disorder With Impaired Language And Ataxia And With Or Without Seizures
Impulsivity, Protruding tongue, Aggressive behavior, Tongue thrusting, Attention deficit hyperact... OMIM:619580
Lig4 Syndrome
Growth delay, Brachycephaly, Biparietal narrowing ORPHA:99812
X-Linked Intellectual Disability Due To Gria3 Mutations
Short stature, Brachycephaly ORPHA:364028
Loeys-Dietz Syndrome 5
Ventricular septal defect, Short stature, Brachycephaly, Growth delay, Dolichocephaly, Atrial sep... OMIM:615582
Sweeney-Cox Syndrome
Flat occiput, Patent ductus arteriosus, Brachycephaly, Patent foramen ovale, Midface retrusion OMIM:617746
49,Xxxxy Syndrome
Brachycephaly, Short stature, Holoprosencephaly ORPHA:96264
Obesity, Hyperphagia, And Developmental Delay
Abnormal repetitive mannerisms, Polyphagia OMIM:613886
Fucosidosis
Brachycephaly, Cardiomegaly ORPHA:349
Congenital Limbs-Face Contractures-Hypotonia-Developmental Delay Syndrome
Short stature, Brachycephaly ORPHA:562528
Monosomy 9Q22.3
Short neck, Pectus excavatum, Kyphosis, Accelerated skeletal maturation, Abnormal rib morphology,... ORPHA:77301
Intellectual Developmental Disorder, Autosomal Dominant 1
Frontal bossing, Short stature, Postnatal growth retardation, Brachycephaly, Midface retrusion OMIM:156200
Intellectual Developmental Disorder With Impaired Language And Dysmorphic Facies
Overlapping toe, Tapered finger, Overfolded helix, 2-3 toe syndactyly, Anteriorly placed anus, Hi... OMIM:618653
Blue Rubber Bleb Nevus
Rectal prolapse, Intestinal bleeding, Volvulus, Intussusception OMIM:112200
Smith-Lemli-Opitz Syndrome
Hypoplasia of penis, Proximal placement of thumb, Short neck, Abnormal form of the vertebral bodi... ORPHA:818
Cleidocranial Dysplasia 2
Plagiocephaly OMIM:620099
Rett Syndrome, Congenital Variant
Kyphosis, Tongue thrusting, Protruding ear, Gastroesophageal reflux, Talipes equinovarus, Scolios... OMIM:613454
Adenylosuccinase Deficiency
Growth delay, Brachycephaly OMIM:103050
Campomelic Dysplasia
Thoracic scoliosis, Cervical kyphosis, Anterior tibial bowing, Patellar hypoplasia, Pectus carina... OMIM:114290
Dentici-Novelli Neurodevelopmental Syndrome
Macrotia, Abnormal repetitive mannerisms, Hearing impairment OMIM:619877
Myhre Syndrome
Abnormal penis morphology, Brachydactyly, Hypospadias, Epispadias, Submucous cleft hard palate, A... ORPHA:2588
Congenital Megacalycosis
Recurrent urinary tract infections, Nephrolithiasis, Renal cyst, Hematuria, Tubulointerstitial ne... ORPHA:93109
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency
High, narrow palate, Femoral bowing, Anteriorly placed anus, Gastroesophageal reflux, Narrow ches... ORPHA:95699
Cerebrooculonasal Syndrome
Brachycephaly ORPHA:66625
Intellectual Developmental Disorder, Autosomal Dominant 34
2-3 toe syndactyly, Short foot, Bruxism, Abnormal repetitive mannerisms, Hearing impairment OMIM:616351
Congenital Disorder Of Glycosylation, Type Iit
Short stature, Brachycephaly OMIM:618885
Warburg Micro Syndrome 3
Postnatal growth retardation, Brachycephaly OMIM:614222
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14
Frontal bossing, Ventricular septal defect, Short stature, Postnatal growth retardation, Large pl... ORPHA:96334
Transketolase Deficiency
Increased level of ribose in urine, Renal cyst, Self-injurious behavior, Compulsive behaviors, At... ORPHA:488618
Neurodevelopmental Disorder With Craniofacial Dysmorphism And Skeletal Defects
Plagiocephaly, Short stature OMIM:620083
Short Stature, Optic Nerve Atrophy, And Pelger-Huet Anomaly
Postnatal growth retardation, Short stature, Brachycephaly OMIM:614800
Neurodevelopmental Disorder With Microcephaly, Seizures, And Cortical Atrophy
Bilateral conductive hearing impairment, Low-set ears, Dysphagia, Volvulus, Abnormal repetitive m... OMIM:617802
Familial Visceral Myopathy
Low-set, posteriorly rotated ears, Hydroureter, Aganglionic megacolon, Arachnodactyly, Camptodact... ORPHA:2604
Chilton-Okur-Chung Neurodevelopmental Syndrome
Frontal bossing, Short stature, Plagiocephaly, Posterior plagiocephaly, Dolichocephaly, Intrauter... OMIM:619841
Chromosome 16P13.3 Duplication Syndrome
Sacral dimple, Short neck, Pectus excavatum, Hip dislocation, Cervical C5/C6 vertebrae fusion, Ca... OMIM:613458
Neurodevelopmental Disorder With Hypotonia, Neonatal Respiratory Insufficiency, And Thermodysregulation
Flat occiput, Brachycephaly OMIM:618797
Vesicoureteral Reflux 3
Ureteropelvic junction obstruction, Grade IV vesicoureteral reflux, Recurrent urinary tract infec... OMIM:613674
Martsolf Syndrome 1
Cardiomyopathy, Short stature, Brachycephaly OMIM:212720
Ellis Van Creveld Syndrome
Hydroureter, Hypospadias, Abnormality of the kidney, Micromelia, Renal hypoplasia/aplasia, Epispa... ORPHA:289
Dysostosis, Stanescu Type
Short stature, Brachycephaly, Midface retrusion ORPHA:1798
Bilateral Generalized Polymicrogyria
Abnormal repetitive mannerisms, Self-injurious behavior, Gastroesophageal reflux, Oral-pharyngeal... ORPHA:208447
Helsmoortel-Van Der Aa Syndrome
Short stature, Mitral valve prolapse, Abnormal heart morphology, Posterior plagiocephaly, Atrial ... OMIM:615873
Ring Chromosome 7 Syndrome
Short stature, Situs inversus totalis, Brachycephaly, Plagiocephaly, Severe intrauterine growth r... ORPHA:1449
Shprintzen-Goldberg Craniosynostosis Syndrome
Frontal bossing, Craniosynostosis, Hydrocephalus, Mitral valve prolapse, Dolichocephaly, Umbilica... OMIM:182212
Sacral Defect With Anterior Meningocele
Back pain, Absence of the sacrum, Neurogenic bladder, Hemisacrum, Rectal abscess, Urinary retenti... OMIM:600145
Marshall Syndrome
Frontal bossing, Thickened calvaria, Brachycephaly, Short stature ORPHA:560
Osteogenesis Imperfecta, Type Xi
Short stature, Brachycephaly OMIM:610968
Cutis Laxa, Autosomal Recessive, Type Ic
Sandal gap, Pyloric stenosis, Rectal prolapse, Gastroesophageal reflux, Multiple bladder divertic... OMIM:613177
Craniofrontonasal Syndrome
Frontal bossing, Short stature, Brachycephaly, Umbilical hernia, Coronal craniosynostosis OMIM:304110
Down Syndrome
Ventricular septal defect, Short stature, Complete atrioventricular canal defect, Patent ductus a... OMIM:190685
Coffin-Siris Syndrome 1
Frontal bossing, Ventricular septal defect, Short stature, Postnatal growth retardation, Tetralog... OMIM:135900
Interstitial Cystitis
Abnormality of the urethra, Urinary bladder inflammation, Functional abnormality of the bladder, ... ORPHA:37202
Non-Syndromic Posterior Hypospadias
Ventral shortening of foreskin, Esophageal atresia, Cleft palate, Urethral diverticulum, Displace... ORPHA:95706
Macrocephaly-Developmental Delay Syndrome
Abnormal speech discrimination, Self-injurious behavior, High palate, Clinodactyly of the 5th fin... ORPHA:397612
Fontaine Progeroid Syndrome
Atrial septal defect, Turricephaly, Bicuspid aortic valve, Short stature, Craniosynostosis, Paten... OMIM:612289
White-Sutton Syndrome
Midface retrusion, Short stature, Brachycephaly, Abnormal heart morphology ORPHA:468678
Fryns Syndrome
Ureteral duplication, Proximal placement of thumb, Short neck, Renal cyst, Prominent fingertip pa... OMIM:229850
Duplication Of The Pituitary Gland
Encephalocele, Brachyturricephaly, Short stature, Midface retrusion ORPHA:314621
Early-Onset Epileptic Encephalopathy-Cortical Blindness-Intellectual Disability-Facial Dysmorphism Syndrome
Prominent ear helix, Abnormal repetitive mannerisms, Large earlobe ORPHA:411986
Short-Rib Thoracic Dysplasia 20 With Polydactyly
Abnormal pinna morphology, Esophageal diverticulum, Hamartoma of tongue, Lateral clavicle hook, H... OMIM:617925
Treacher-Collins Syndrome
Encephalocele, Branchial fistula, Frontal bossing, Patent ductus arteriosus, Brachycephaly, Midfa... ORPHA:861
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 4
Plagiocephaly OMIM:618548
Osteogenesis Imperfecta
Osteopenia, Cervical kyphosis, Osteoarthritis, Flexion contracture, Bone pain, Abnormal form of t... ORPHA:666
Craniosynostosis And Dental Anomalies
Frontal bossing, Turricephaly, Flat occiput, Short stature, Sagittal craniosynostosis, Scaphoceph... OMIM:614188
Fibrous Dysplasia Of Bone
Abnormal clavicle morphology, Osteomalacia, Abnormal rib morphology, Bone pain, Rickets, Osteolys... ORPHA:249
Chromosome 17Q12 Deletion Syndrome
Pica, Renal cyst, Protruding ear, High palate, Short palm, Long toe, Multicystic kidney dysplasia... OMIM:614527
Microcephaly-Seizures-Intellectual Disability-Heart Disease Syndrome
Postaxial hand polydactyly, Abnormal rib morphology, Abnormal sternum morphology, Short ribs, Bro... ORPHA:2519
2P15P16.1 Microdeletion Syndrome
Growth delay, Intrauterine growth retardation, Brachycephaly ORPHA:261349
Simpson-Golabi-Behmel Syndrome, Type 1
Renal cyst, Pectus carinatum, Vertebral segmentation defect, Short palm, Hepatoblastoma, Posterio... OMIM:312870
Gastrointestinal Stromal Tumor
Gastrointestinal hemorrhage, Intestinal obstruction, Neoplasm of the stomach, Gastrointestinal st... ORPHA:44890
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome
Ventricular septal defect, Short stature, Abnormal heart morphology, Plagiocephaly, Patent forame... ORPHA:444077
Pfeiffer Syndrome
Hydrocephalus, Cloverleaf skull, Brachyturricephaly, Coronal craniosynostosis OMIM:101600
Momo Syndrome
Frontal bossing, Short stature, Brachycephaly ORPHA:2563
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion
Abnormal curvature of the vertebral column, Gastroesophageal reflux, Otitis media, Compulsive beh... ORPHA:353281
Developmental Delay, Impaired Speech, And Behavioral Abnormalities
Ventricular septal defect, Bicuspid aortic valve, Dolichocephaly, Plagiocephaly, Delayed puberty,... OMIM:619475
Childhood Disintegrative Disorder
Abnormal repetitive mannerisms, Urinary incontinence ORPHA:168782
Intellectual Developmental Disorder, X-Linked 99, Syndromic, Female-Restricted
Atrial septal defect, Patent ductus arteriosus, Short stature, Brachycephaly OMIM:300968
Osteopetrosis With Renal Tubular Acidosis
Plagiocephaly, Thickened calvaria, Brachycephaly, Short stature ORPHA:2785
X-Linked Intellectual Disability, Cantagrel Type
Abnormal repetitive mannerisms, Gastroesophageal reflux ORPHA:85277
Vertebral Anomalies And Variable Endocrine And T-Cell Dysfunction
Short stature, Patent ductus arteriosus, Brachycephaly, Pulmonic stenosis, Atrial septal defect, ... OMIM:618223
Short Stature, Brachydactyly, Impaired Intellectual Development, And Seizures
Recurrent urinary tract infections, Sacral dimple, Short metacarpal, Brachydactyly, Short neck, R... OMIM:617157
Acromelic Frontonasal Dysostosis
Encephalocele, Brachycephaly, Parietal foramina OMIM:603671
Neurodevelopmental Disorder With Poor Growth And Behavioral Abnormalities
Hyperactivity, Aggressive behavior, 2-3 toe cutaneous syndactyly, Gastroesophageal reflux, High p... OMIM:620242
Momo Syndrome
Frontal bossing, Brachycephaly OMIM:157980
Congenital Fibrosis Of Extraocular Muscles
Plagiocephaly ORPHA:45358
Neurodevelopmental Disorder With Ataxic Gait, Absent Speech, And Decreased Cortical White Matter
Overlapping toe, Tapered finger, Prominent antihelix, Bilateral talipes equinovarus, Clinodactyly... OMIM:617807
Short Stature, Developmental Delay, And Congenital Heart Defects
Self-injurious behavior, Attention deficit hyperactivity disorder, Abnormal repetitive mannerisms... OMIM:617044
Monosomy 9P
Hypospadias, Proximal placement of thumb, Short neck, Abnormality of the tarsal bones, Postaxial ... ORPHA:261112
Degcags Syndrome
Ventricular septal defect, Craniosynostosis, Plagiocephaly, Pulmonic stenosis, Atrial septal defe... OMIM:619488
Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency
Low-set, posteriorly rotated ears, 2-5 finger syndactyly, Hypospadias, Camptodactyly of finger, U... ORPHA:468631
Frank-Ter Haar Syndrome
Flat occiput, Ventricular septal defect, Secundum atrial septal defect, Brachycephaly, Mitral val... OMIM:249420
Epidermolysis Bullosa Simplex With Pyloric Atresia
Renal dysplasia, Abnormality of the urethra, Congenital pyloric atresia, Abnormality of the urina... ORPHA:158684
Chromosome 17Q23.1-Q23.2 Deletion Syndrome
Bicuspid aortic valve, Short stature, Secundum atrial septal defect, Postnatal growth retardation... OMIM:613355
Angelman Syndrome
Flat occiput, Brachycephaly OMIM:105830
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly
Hypoplasia of the ulna, Renal insufficiency, Proteinuria, Lateral clavicle hook, Chronic kidney d... OMIM:208500
Frontofacionasal Dysplasia
Cranium bifidum occultum, Brachycephaly, Hypoplasia of the frontal bone, Midface retrusion OMIM:229400
Aicardi-Goutières Syndrome
Plagiocephaly, Hypertrophic cardiomyopathy, Short stature, Cardiomegaly ORPHA:51
Camptodactyly Syndrome, Guadalajara Type 3
Osteopenia, Short neck, Delayed skeletal maturation, Abnormal rib morphology, Spina bifida occulta ORPHA:488434
Trisomy 9P
Brachycephaly ORPHA:236
Posterior-Predominant Lissencephaly-Broad Flat Pons And Medulla-Midline Crossing Defects Syndrome
Neurogenic bladder, Abnormal repetitive mannerisms, Dysphagia ORPHA:572013
Alpha-Mannosidosis, Infantile Form
Communicating hydrocephalus, Craniosynostosis, Cranial hyperostosis, Brachycephaly, Umbilical her... ORPHA:309282
Cystic Fibrosis
Meconium ileus, Malabsorption, Rectal prolapse, Nephrolithiasis, Gastroesophageal reflux, Steator... ORPHA:586
Thoracic Outlet Syndrome
Abnormal rib morphology ORPHA:97330
Leprechaunism
Rectal prolapse, Long penis, Hypercalciuria, Megarectum, Nephrocalcinosis, Protruding ear, Large ... ORPHA:508
Bainbridge-Ropers Syndrome
Ulnar deviation of the hand, Posteriorly rotated ears, Intestinal malrotation, Arachnodactyly, Co... OMIM:615485
Hereditary Acrokeratotic Poikiloderma
Abnormality of the gastrointestinal tract, Finger syndactyly, Camptodactyly of finger, Hearing im... ORPHA:2907
Orofaciodigital Syndrome Type 4
Micromelia, High, narrow palate, Abnormality of the ear, Conductive hearing impairment, Aplasia/H... ORPHA:2753
Spondylometaphyseal Dysplasia, Sedaghatian Type
11 pairs of ribs, Short neck, Cupped ribs, Horizontal inferior border of scapula, Delayed epiphys... OMIM:250220
Faundes-Banka Syndrome
Plagiocephaly, Frontal bossing, Intrauterine growth retardation, Delayed puberty OMIM:619376
Oculodentodigital Dysplasia, Autosomal Recessive
Frontal bossing, Short stature, Brachycephaly OMIM:257850
Craniofrontonasal Dysplasia-Poland Anomaly Syndrome
Plagiocephaly, Craniosynostosis ORPHA:1521
Oculocerebrorenal Syndrome Of Lowe
Protruding ear, Oligosacchariduria, Nephrocalcinosis, Aminoaciduria, Gastroesophageal reflux, Com... ORPHA:534
Classical Ehlers-Danlos Syndrome
Phalangeal dislocation, Hiatus hernia, Rectal prolapse, Bladder diverticulum, Shoulder dislocatio... ORPHA:287
Intellectual Developmental Disorder, X-Linked, Syndromic, Turner Type
Brachydactyly, Hyperactivity, Hypospadias, Posteriorly rotated ears, Overlapping toe, Tapered fin... OMIM:309590
Alg9-Cdg
Frontal bossing, Ventricular septal defect, Rhizomelia, Pericardial effusion, Brachycephaly, Abno... ORPHA:79328
Warburg Micro Syndrome 2
Postnatal growth retardation, Brachycephaly OMIM:614225
Prader-Willi Syndrome Due To Translocation
Overlapping toe, Abnormality of the kidney, Short neck, Abnormal repetitive mannerisms, Small han... ORPHA:177907
Exstrophy-Epispadias Complex
Abnormality of the gastrointestinal tract, Renal insufficiency, Bladder fistula, Anal stenosis, U... ORPHA:322
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome
Craniosynostosis, Patent ductus arteriosus, Brachycephaly, Abnormal heart morphology, Atrial sept... ORPHA:369837
Hamamy Syndrome
Atrial septal defect, Complete atrioventricular canal defect, Brachycephaly, Craniosynostosis OMIM:611174
Oculocerebrocutaneous Syndrome
Finger syndactyly, Missing ribs, External ear malformation, Aplasia/Hypoplasia of the distal phal... ORPHA:1647
Malakoplakia
Proteinuria, Dysuria, Urinary bladder inflammation, Urinary urgency, Hematuria, Neoplasm of the r... ORPHA:556
Absent Radius-Anogenital Anomalies Syndrome
Hypoplasia of the radius, Rectal atresia, Perineal fistula, Rectovaginal fistula, Ectrodactyly, O... ORPHA:3016
Developmental And Epileptic Encephalopathy 64
Self-injurious behavior, Macrotia, Abnormal repetitive mannerisms, Bruxism OMIM:618004
Developmental And Epileptic Encephalopathy 66
Clinodactyly of the 5th finger, Abnormal repetitive mannerisms OMIM:618067
Bifid Nose With Or Without Anorectal And Renal Anomalies
Ebstein anomaly of the tricuspid valve, Brachycephaly OMIM:608980
Liver Disease, Severe Congenital
Ventricular septal defect, Left atrial enlargement, Cardiomegaly, Dilatation of the ventricular c... OMIM:619991
Hydroxykynureninuria
Renal tubular acidosis, Abnormal repetitive mannerisms, Congenital sensorineural hearing impairment ORPHA:79155
Intellectual Developmental Disorder, X-Linked, Syndromic, Billuart Type
Hyperactivity, Microphallus, Micropenis, Macrotia, Abnormal repetitive mannerisms, Self-mutilation OMIM:300486
Multicentric Osteolysis, Nodulosis, And Arthropathy
Frontal bossing, Short stature, Brachycephaly, Mitral valve prolapse OMIM:259600
Familial Colorectal Cancer Type X
Gastrointestinal hemorrhage, Renal neoplasm, Malabsorption, Hepatocellular carcinoma, Neoplasm of... ORPHA:440437
Metaphyseal Chondrodysplasia, Jansen Type
Severe short stature, Brachycephaly OMIM:156400
Carpenter Syndrome 2
Frontal bossing, Dextrocardia, Trigonocephaly, Craniosynostosis, Situs inversus totalis, Patent d... OMIM:614976
Alagille Syndrome 1
Duplicated collecting system, Hypoplasia of the ulna, Multiple small medullary renal cysts, Abnor... OMIM:118450
Intellectual Developmental Disorder, Autosomal Dominant 71, With Behavioral Abnormalities
Frontal bossing, Ventricular septal defect, Scaphocephaly, Brachycephaly, Posterior plagiocephaly... OMIM:620330
Infantile Multisystem Neurologic-Endocrine-Pancreatic Disease
Mild postnatal growth retardation, Brachycephaly, Delayed puberty ORPHA:456312
Specc1L-Related Hypertelorism Syndrome
Ventricular septal defect, Patent ductus arteriosus, Brachycephaly, Atrial septal defect, Umbilic... ORPHA:1519
Intellectual Developmental Disorder, X-Linked, Syndromic, With Pigmentary Mosaicism And Coarse Facies
Posteriorly rotated ears, Hyperlordosis, Tapered finger, Aggressive behavior, Cleft palate, Genu ... OMIM:301066
Ulbright-Hodes Syndrome
Short neck, Ovoid thoracolumbar vertebrae, High palate, Abnormal penis morphology, Short metacarp... ORPHA:3404
Hijazi-Reis Syndrome
Abnormal repetitive mannerisms, Gastroesophageal reflux OMIM:301094
Kaufman Oculocerebrofacial Syndrome
Atrial septal defect, Ventricular septal defect, Brachycephaly, Short stature OMIM:244450
Heterotaxy, Visceral, 1, X-Linked
Absence of the sacrum, Congenital hip dislocation, Block vertebrae OMIM:306955
Van Esch-O'Driscoll Syndrome
Sacral dimple, Impulsivity, Esophageal atresia, Tracheoesophageal fistula, Protruding ear, Microt... OMIM:301030
Ear-Patella-Short Stature Syndrome
Hypoplasia of penis, Microtia, third degree, Hypospadias, Posteriorly rotated ears, Aplastic clav... ORPHA:2554
48,Xxxy Syndrome
Brachycephaly ORPHA:96263
Peters Plus Syndrome
Frontal bossing, Short stature, Rhizomelia, Postnatal growth retardation, Patent ductus arteriosu... ORPHA:709
Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities
Urethral stricture, Urinary incontinence, High palate, Clinodactyly of the 5th finger, Small earl... OMIM:619522
Charge Syndrome
Abnormal tibia morphology, Hemivertebrae, Hypoplasia of the semicircular canal, Gastroesophageal ... ORPHA:138
Ulna And Fibula, Absence Of, With Severe Limb Deficiency
Short neck, Hemivertebrae, Pectus carinatum, Femoral bowing, High palate, Long ear, Foot oligodac... OMIM:276820
19P13.13 Microdeletion Syndrome
Brachycephaly, Dolichocephaly ORPHA:357001
Neurodevelopmental Disorder With Dysmorphic Features, Spasticity, And Brain Abnormalities
Short neck, Prominent antihelix, Inappropriate laughter, Macrotia, Abnormal repetitive mannerisms... OMIM:615802
Developmental And Epileptic Encephalopathy 2
Tapered finger, Small hand, Short foot, Gastroesophageal reflux, Scoliosis, Abnormal repetitive m... OMIM:300672
Cree Mental Retardation Syndrome
Brachycephaly OMIM:606851
Neurodevelopmental Disorder With Cerebral Atrophy And Variable Facial Dysmorphism
Brachycephaly OMIM:619244
Juvenile Neuronal Ceroid Lipofuscinosis
Abnormal repetitive mannerisms, Dysphagia ORPHA:79264
5Q14.3 Microdeletion Syndrome
Toe syndactyly, Abnormal repetitive mannerisms ORPHA:228384
Kindler Epidermolysis Bullosa
Urethral stricture, Finger syndactyly, Camptodactyly of finger, Phimosis, Esophageal stricture, A... ORPHA:2908
Fowler Urethral Sphincter Dysfunction Syndrome
Dysuria, Urinary retention, Abnormality of the urethra, Urinary incontinence ORPHA:2795
Lig4 Syndrome
Brachycephaly OMIM:606593
Coffin-Siris Syndrome 12
Protruding ear, High palate, Gastroesophageal reflux, Abnormal repetitive mannerisms, Simple ear,... OMIM:619325
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 3
Absence of Stensen duct, Xerostomia, Anteriorly placed anus, Ureterocele, Vesicoureteral reflux, ... OMIM:604292
Doors Syndrome
Frontal bossing, Sagittal craniosynostosis, Brachycephaly, Sirenomelia, Prominent occiput, Double... ORPHA:79500
Adenocarcinoma Of The Anal Canal
Anal stenosis, Anal canal adenocarcinoma, Rectal prolapse, Neoplasm of the rectum, Neoplasm of th... ORPHA:424016
Cartilage-Hair Hypoplasia
Absent pubertal growth spurt, Neonatal short-limb short stature, Brachycephaly OMIM:250250
Pterygium Colli-Intellectual Disability-Digital Anomalies Syndrome
Brachycephaly ORPHA:2988
X-Linked Intellectual Disability, Armfield Type
Short stature, Patent ductus arteriosus, Brachycephaly, Abnormal cardiac septum morphology, Midfa... ORPHA:85276
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 1
Short stature, Postnatal growth retardation, Brachycephaly, Delayed puberty, Midface retrusion OMIM:616263
Intellectual Developmental Disorder, X-Linked, Syndromic, Snyder-Robinson Type
Thickened calvaria, Brachycephaly, Short stature OMIM:309583
Lynch Syndrome
Intestinal polyposis, Gastrointestinal hemorrhage, Malabsorption, Neoplasm of the rectum, Colon c... ORPHA:144
Microcephaly-Intellectual Disability-Sensorineural Hearing Loss-Epilepsy-Abnormal Muscle Tone Syndrome
Self-injurious behavior, Sensorineural hearing impairment, Abnormal repetitive mannerisms, Scoliosis ORPHA:457351
Junctional Epidermolysis Bullosa With Pyloric Atresia
Urethral stricture, Urinary bladder inflammation, Congenital pyloric atresia, Hydronephrosis, Hem... ORPHA:79403
Intellectual Disability-Cataracts-Calcified Pinnae-Myopathy Syndrome
Plagiocephaly, Short stature, Midface retrusion ORPHA:3042
Ayme-Gripp Syndrome
Pericarditis, Short stature, Brachycephaly, Craniofacial asymmetry, Midface retrusion OMIM:601088
Cornelia De Lange Syndrome 1
Intrauterine growth retardation, Ventricular septal defect, Brachycephaly, Short stature OMIM:122470
Developmental Delay With Or Without Intellectual Impairment Or Behavioral Abnormalities
High, narrow palate, Sensorineural hearing impairment, Head-banging, Hematochezia, Renal tubular ... OMIM:619575
Microcephaly-Corpus Callosum Hypoplasia-Intellectual Disability-Facial Dysmorphism Syndrome
Plagiocephaly ORPHA:457284
Infantile Hypotonia-Oculomotor Anomalies-Hyperkinetic Movements-Developmental Delay Syndrome
Lumbar hyperlordosis, Equinus calcaneus, Repetitive compulsive behavior, 2-3 toe syndactyly, Self... ORPHA:522077
Hereditary Orotic Aciduria
Low-set, posteriorly rotated ears, Orotic acid crystalluria, Abnormality of the ureter, Aminoacid... ORPHA:30
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency
Abnormal curvature of the vertebral column, High palate, Gastroesophageal reflux, Otitis media, C... ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations
Abnormal curvature of the vertebral column, High palate, Gastroesophageal reflux, Otitis media, C... ORPHA:353277
Rett Syndrome
Stereotypical hand wringing, Agitation, Abnormal repetitive mannerisms, Scoliosis ORPHA:778
6Q Terminal Deletion Syndrome
Plagiocephaly, Dolichocephaly ORPHA:75857
Meckel Syndrome, Type 1
Hypoplasia of the bladder, Bowing of the long bones, Syndactyly, Renal agenesis, Intestinal malro... OMIM:249000
Toxic Epidermal Necrolysis
Gastrointestinal hemorrhage, Renal insufficiency, Dysuria, Malabsorption, Abnormality of the uret... ORPHA:537
Elsahy-Waters Syndrome
Pectus excavatum, Cervical C2/C3 vertebral fusion OMIM:211380
Joubert Syndrome 6
Abnormal repetitive mannerisms, Stage 5 chronic kidney disease, Nephronophthisis OMIM:610688
Trichorhinophalangeal Syndrome, Type Ii
Bicuspid aortic valve, Mild postnatal growth retardation, Partial anomalous pulmonary venous retu... OMIM:150230
Cystic Fibrosis
Meconium ileus, Rectal prolapse, Ileus, Hypercalciuria, Clubbing of fingers, Steatorrhea OMIM:219700
Autosomal Dominant Nocturnal Frontal Lobe Epilepsy
Abnormal repetitive mannerisms, Urinary incontinence, Attention deficit hyperactivity disorder ORPHA:98784
Distal Deletion 12Q
Frontal bossing, Short stature, Patent ductus arteriosus, Brachycephaly, Growth delay, Congenital... ORPHA:96149
46,Xy Difference Of Sex Development Due To 17-Beta-Hydroxysteroid Dehydrogenase 3 Deficiency
Abnormality of the urethra ORPHA:752
Cleft Palate, Psychomotor Retardation, And Distinctive Facial Features
Frontal bossing, Short stature, Brachycephaly OMIM:616728
Bladder Exstrophy And Epispadias Complex
Hydroureter, Unilateral renal agenesis, Epispadias, Horseshoe kidney, Anteriorly placed anus, Bla... OMIM:600057
Hyperammonemia Due To N-Acetylglutamate Synthase Deficiency
Agitation, Abnormal repetitive mannerisms ORPHA:927
Polymerase Proofreading-Related Adenomatous Polyposis
Neoplasm of the rectum, Adenomatous colonic polyposis, Colorectal polyposis, Adenocarcinoma of th... ORPHA:447877
Caudal Duplication Anomaly
Ureteral duplication OMIM:607864
Skin Creases, Congenital Symmetric Circumferential, 1
Brachycephaly OMIM:156610
Cerebral Creatine Deficiency Syndrome 1
Aganglionic megacolon, Aggressive behavior, Ileus, Underfolded superior helices, Attention defici... OMIM:300352
Charge Syndrome
Hemivertebrae, Hand monodactyly, Micropenis, Self-mutilation, Hypoplasia of the ulna, Aplasia of ... OMIM:214800
Congenital Tracheal Stenosis
Abnormality of the kidney, Abnormal stomach morphology, Abnormality of the ureter, Tracheoesophag... ORPHA:141127
Developmental And Epileptic Encephalopathy 100
Protruding tongue, Bilateral camptodactyly, Small hand, Gastroesophageal reflux, High palate, Sco... OMIM:619777
Ehlers-Danlos Syndrome, Musculocontractural Type, 1
Brachycephaly, Mitral valve prolapse, Tricuspid valve prolapse, Atrial septal defect, Umbilical h... OMIM:601776
Seizures, Scoliosis, And Macrocephaly/Microcephaly Syndrome
Proteinuria, Intestinal malrotation, Overlapping toe, Hiatus hernia, Gastroesophageal reflux, Sco... OMIM:616682
Li-Fraumeni Syndrome
Renal neoplasm, Neoplasm of the rectum, Colon cancer, Colorectal polyposis, Neoplasm of the gastr... ORPHA:524
Brachycephaly, Deafness, Cataract, Microstomia, And Impaired Intellectual Development
Growth delay, Brachycephaly OMIM:601353
Arthrogryposis And Ectodermal Dysplasia
Short stature, Brachycephaly OMIM:601701
Branchioskeletogenital Syndrome
Umbilical hernia, Thickened calvaria, Brachycephaly, Craniosynostosis ORPHA:1299
Pfeiffer Syndrome Type 3
Aqueductal stenosis, Brachyturricephaly, Midface retrusion ORPHA:93260
Immunodeficiency 40
Recurrent otitis media, Focal active colitis, Rectal fistula OMIM:616433
Chime Syndrome
Ventricular septal defect, Brachycephaly, Tetralogy of Fallot, Transposition of the great arterie... ORPHA:3474
Trisomy 18
Low-set, posteriorly rotated ears, Camptodactyly of finger, Abnormality of the upper urinary trac... ORPHA:3380
Generalized Arterial Calcification Of Infancy
Abnormality of the knee, Osteomalacia, Stippled calcification of the shoulder, Abnormal calcifica... ORPHA:51608
Mandibuloacral Dysplasia Progeroid Syndrome
Frontal bossing, Mitral valve calcification, Short stature, Postnatal growth retardation, Brachyc... OMIM:619127
Craniofacial Microsomia 1
Block vertebrae, Hemivertebrae, Genu valgum, Cervical ribs, Scoliosis, Vertebral hypoplasia OMIM:164210
Peroxisome Biogenesis Disorder 1A (Zellweger)
Patent ductus arteriosus, Flat occiput, Ventricular septal defect, Brachyturricephaly OMIM:214100
Late Infantile Neuronal Ceroid Lipofuscinosis
Hyperactivity, Obsessive-compulsive trait, Abnormal repetitive mannerisms, Aggressive behavior ORPHA:168491
Lowe Oculocerebrorenal Syndrome
Renal insufficiency, Hyperphosphaturia, Camptodactyly of finger, Aggressive behavior, Kyphosis, B... OMIM:309000
Severe Microbrachycephaly-Intellectual Disability-Athetoid Cerebral Palsy Syndrome
Frontal bossing, Brachycephaly ORPHA:1236
Intellectual Developmental Disorder, Autosomal Dominant 38
Aggressive behavior, Hair-pulling, Self-injurious behavior, High palate, Talipes equinovarus, Low... OMIM:616393
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 5
Hydroureter, Intestinal malrotation, Megacystis, Hydronephrosis, Microcolon OMIM:619431
Congenital Myopathy 13
Short stature, Brachycephaly, Midface retrusion OMIM:255995
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome
Mitral valve calcification, Aortic valve calcification, Hydrocephalus, Brachycephaly, Growth dela... ORPHA:2072
Intellectual Developmental Disorder, Autosomal Dominant 29
Frontal bossing, Brachycephaly OMIM:616078
Atresia Of Urethra
Renal dysplasia, Renal insufficiency, Bladder fistula, Hydroureter, Recurrent urinary tract infec... ORPHA:105
Roberts Syndrome
Postnatal growth retardation, Brachycephaly, Severe intrauterine growth retardation, Craniosynost... ORPHA:3103
Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb
Frontal bossing, Turricephaly, Bicuspid aortic valve, Muscular ventricular septal defect, Patent ... OMIM:612474
Autosomal Recessive Faciodigitogenital Syndrome
Frontal bossing, Short stature, Brachycephaly ORPHA:1974
Neurodevelopmental Disorder With Or Without Variable Movement Or Behavioral Abnormalities
Attention deficit hyperactivity disorder, Abnormal repetitive mannerisms, Motor tics OMIM:619725
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 3
Hydroureter, Microcolon, Megacystis, Fetal megacystis, Hydronephrosis OMIM:619362
Acrofrontofacionasal Dysostosis 1
Short stature, Brachycephaly OMIM:201180
Progressive Non-Infectious Anterior Vertebral Fusion
Brachycephaly ORPHA:2062
Hallermann-Streiff Syndrome
Frontal bossing, Brachycephaly, Proportionate short stature ORPHA:2108
Intellectual Disability-Autism-Speech Apraxia-Craniofacial Dysmorphism Syndrome
Abnormal repetitive mannerisms, Abnormal fingertip morphology ORPHA:529965
Pitt-Hopkins-Like Syndrome 1
Hyperactivity, Abnormal repetitive mannerisms, Attention deficit hyperactivity disorder, Aggressi... OMIM:610042
Spastic Tetraplegia-Thin Corpus Callosum-Progressive Postnatal Microcephaly Syndrome
Hyperactivity, Urinary incontinence, Hair-pulling, Protruding ear, Gastroesophageal reflux, Low-s... ORPHA:447997
Microcephaly-Facial Dysmorphism-Ocular Anomalies-Multiple Congenital Anomalies Syndrome
Brachycephaly ORPHA:521445
Microphthalmia, Syndromic 6
Plagiocephaly, Brachycephaly, Lambdoidal craniosynostosis, Midface retrusion OMIM:607932
Stevens-Johnson Syndrome
Gastrointestinal hemorrhage, Renal insufficiency, Dysuria, Abnormality of the urethra, Esophageal... ORPHA:36426
Renpenning Syndrome 1
Ventricular septal defect, Short stature, Situs inversus totalis, Brachycephaly, Atrial septal de... OMIM:309500
Ogden Syndrome
Global glomerulosclerosis, Sandal gap, Broad hallux, Short neck, Pectus excavatum, Long fingers, ... OMIM:300855
Mowat-Wilson Syndrome
Urinary incontinence, Uplifted earlobe, Cleft hard palate, Gastrointestinal dysmotility, Calcaneo... ORPHA:2152
Roberts-Sc Phocomelia Syndrome
Ventricular septal defect, Craniosynostosis, Postnatal growth retardation, Patent ductus arterios... OMIM:268300
Wiedemann-Rautenstrauch Syndrome
Frontal bossing, Short stature, Secundum atrial septal defect, Hydrocephalus, Brachycephaly, Intr... OMIM:264090
Hypotonia, Ataxia, And Delayed Development Syndrome
Small earlobe, Posteriorly rotated ears, Tapered finger, Overfolded helix, Gastroesophageal reflu... OMIM:617330
Mucopolysaccharidosis Type 2
Otosclerosis, Irregularity of vertebral bodies, Hyperactivity, Impulsivity, Aggressive behavior, ... ORPHA:580
Mowat-Wilson Syndrome Due To Monosomy 2Q22
Urinary incontinence, Uplifted earlobe, Cleft hard palate, Calcaneovalgus deformity, Pectus carin... ORPHA:261537
X-Linked Intellectual Disability, Snyder Type
Short stature, Brachycephaly ORPHA:3063
Pilarowski-Bjornsson Syndrome
Prominent fingertip pads, Abnormal repetitive mannerisms OMIM:617682
Fraser Syndrome
Low-set, posteriorly rotated ears, Finger syndactyly, Hypoplasia of penis, Multicystic kidney dys... ORPHA:2052
Primrose Syndrome
Restlessness, Calcification of the auricular cartilage, Aggressive behavior, Pectus excavatum, Ky... OMIM:259050
Congenital Disorder Of Deglycosylation 1
Brachycephaly, Midface retrusion OMIM:615273
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 3
Growth delay, Short stature, Brachycephaly OMIM:619950
14Q22Q23 Microdeletion Syndrome
Short stature, Brachycephaly ORPHA:264200
Viss Syndrome
Frontal bossing, Ventricular septal defect, Short stature, Coronary sinus enlargement, Patent duc... OMIM:619472
Cerebellar Dysfunction With Variable Cognitive And Behavioral Abnormalities
Short ear, Short palm, Hyperactivity, Posteriorly rotated ears, Hiatus hernia, Aggressive behavio... OMIM:614756
Mismatch Repair Cancer Syndrome 3
Neoplasm of the rectum, Colon cancer OMIM:619097
Igg4-Related Kidney Disease
Renal insufficiency, Proteinuria, Renal interstitial immunoglobulin deposits, Urinary bladder inf... ORPHA:449395
Cornelia De Lange Syndrome
Ventricular septal defect, Short stature, Brachycephaly, Severe postnatal growth retardation, Del... ORPHA:199
Developmental And Epileptic Encephalopathy 85 With Or Without Midline Brain Defects
Posteriorly rotated ears, Broad hallux, 1-2 toe syndactyly, Tapered finger, Clinodactyly, Small h... OMIM:301044
Nthl1-Related Attenuated Familial Adenomatous Polyposis
Neoplasm of the rectum, Duodenal adenocarcinoma, Adenomatous colonic polyposis, Colon cancer ORPHA:454840
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation
Urinary incontinence, Uplifted earlobe, Cleft hard palate, Calcaneovalgus deformity, Pectus carin... ORPHA:261552
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies
Frontal bossing, Ventricular septal defect, Mitral atresia, Dolichocephaly, Muscular ventricular ... OMIM:619503
Common Variable Immunodeficiency
Brachycephaly ORPHA:1572
Autosomal Recessive Malignant Osteopetrosis
Recurrent fractures, Craniosynostosis, Bone pain, Abnormal rib morphology, Reduced bone mineral d... ORPHA:667
X-Linked Female Restricted Facial Dysmorphism-Short Stature-Choanal Atresia-Intellectual Disability
Short stature, Patent ductus arteriosus, Brachycephaly, Cardiomyopathy, Delayed puberty, Atrial s... ORPHA:480880
Spondyloepimetaphyseal Dysplasia, Genevieve Type
Short stature, Brachycephaly OMIM:610442
Immunodeficiency 73A With Defective Neutrophil Chemotaxis And Leukocytosis
Urachal cyst, Rectal abscess OMIM:608203
Pagod Syndrome
Abnormal clavicle morphology, Multicystic kidney dysplasia, Abnormal rib morphology, Renal hypopl... ORPHA:991
Intellectual Disability-Seizures-Abnormal Gait-Facial Dysmorphism Syndrome
Metatarsus adductus, Repetitive compulsive behavior, Osteopathia striata, Abnormal Eustachian tub... ORPHA:513456
Combined Immunodeficiency-Enteropathy Spectrum
Intestinal malrotation, Jejunoileal ulceration, Gastrointestinal atresia, Rectal abscess, Intesti... ORPHA:436252
Niemann-Pick Disease, Type C2
Abnormal repetitive mannerisms, Dysphagia OMIM:607625
Antley-Bixler Syndrome With Genital Anomalies And Disordered Steroidogenesis
Frontal bossing, Cloverleaf skull, Craniosynostosis, Brachycephaly, Midface retrusion OMIM:201750
Aspartylglucosaminuria
Thickened calvaria, Brachycephaly, Short stature OMIM:208400
Norrie Disease
Sensorineural hearing impairment, Protruding ear, Abnormal cochlea morphology, Self-injurious beh... ORPHA:649
Agammaglobulinemia 1, Autosomal Recessive
Recurrent otitis media, Rectal abscess OMIM:601495
Leukocyte Adhesion Deficiency, Type I
Rectal abscess OMIM:116920
Granulomatous Disease, Chronic, Autosomal Recessive, 1
Rectal abscess OMIM:233700
Granulomatous Disease, Chronic, Autosomal Recessive, 2
Rectal abscess OMIM:233710
Granulomatous Disease, Chronic, Autosomal Recessive, 4
Rectal abscess OMIM:233690
Granulomatous Disease, Chronic, X-Linked
Rectal abscess OMIM:306400
Carney Complex
Neoplasm of the stomach, Esophageal neoplasm, Neoplasm of the rectum, Hepatocellular carcinoma, T... ORPHA:1359
Nmda Receptor Encephalitis
Hypersexuality, Agitation, Abnormal repetitive mannerisms ORPHA:217253
Hepatocellular Carcinoma
Hepatocellular carcinoma OMIM:114550

Histopathology

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

There is no histopathology data for Axin1

IMPC related publications

The table below lists publications which used either products generated by the IMPC or data produced by the phenotyping efforts of the IMPC. These publications have also been associated to Axin1.

No publications found that use IMPC mice or data for Axin1.

Order Mouse and ES Cells

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MGI Allele Allele Type Produced
Axin1tm1e(KOMP)Mbp Targeted, non-conditional allele ES Cells
Axin1tm4e(EUCOMM)Wtsi Targeted, non-conditional allele ES Cells
Axin1tm1a(KOMP)Mbp KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells
Axin1tm1e(KOMP)Wtsi Targeted, non-conditional allele ES Cells
Axin1tm179127(L1L2_Pgk_P) KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors
Axin1tm2a(KOMP)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells
Axin1tm2e(KOMP)Wtsi Targeted, non-conditional allele ES Cells
Axin1tm270606(L1L2_Bact_P) KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors

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