Not currently registered for phenotyping at IMPC

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

Gene Summary

Name:
axin 1
Synonyms:
N/A

IMPC Data Collections

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

IMPC Phenotype Summary

Significant
Not Significant
Not tested

Phenotypes

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

lacZ Expression

Expression data not available

Associated Images

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

Phenotype associated images not available

Human diseases caused by Axin1 mutations

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

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

The table below shows human diseases associated to Axin1 by orthology or direct annotation.

Disease Similarity of
phenotypes
Matching phenotypes Source
Caudal Duplication Anomaly
Ureteral duplication, Uterus didelphys 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
Hemivertebrae, Vertebral clefting, Rib fusion, Short neck, Vertebral segmentation defect OMIM:608681
Spondylocostal Dysostosis 1, Autosomal Recessive
Abnormality of the odontoid process, Vertebral fusion, Hemivertebrae, Kyphoscoliosis, Back pain, ... OMIM:277300
Spondylocostal Dysostosis 3, Autosomal Recessive
Kyphosis, Scoliosis, Rib fusion, Hypoplasia of the odontoid process, Vertebral segmentation defec... OMIM:609813
Spondylocostal Dysostosis 5
Butterfly vertebrae, Vertebral fusion, Hemivertebrae, Pectus carinatum, Posterior rib fusion, Mis... OMIM:122600
Spondylocostal Dysostosis 4, Autosomal Recessive
Abnormality of the odontoid process, Vertebral fusion, Hemivertebrae, Missing ribs, Short thorax,... OMIM:613686
Microcephaly With Cervical Spine Fusion Anomalies
Spinal instability, Vertebral fusion OMIM:251250
Sacral Agenesis With Vertebral Anomalies
Absence of the sacrum, Abnormal vertebral morphology OMIM:615709
Posterior Fusion Of Lumbosacral Vertebrae-Blepharoptosis Syndrome
Tarsal synostosis, Posterior fusion of lumbosacral vertebrae, Abnormal form of the vertebral bodi... ORPHA:2064
Vertebral Fusion, Posterior Lumbosacral, With Blepharoptosis
Posterior fusion of lumbosacral vertebrae OMIM:192800
Dwarfism With Tall Vertebrae
Increased vertebral height OMIM:126950
Familial Scheuermann Disease
Abnormal form of the vertebral bodies, Kyphosis ORPHA:3135
Mental Retardation, X-Linked, With Craniofacial Dysmorphism
Plagiocephaly, Frontal bossing, Brachycephaly OMIM:300064
Autosomal Dominant Spondylocostal Dysostosis
Abnormal sacrum morphology, Posterior rib fusion, Short thorax, Missing ribs, Spina bifida occult... ORPHA:1797
Chondrocalcinosis Due To Apatite Crystal Deposition
Costal cartilage calcification, Chondrocalcinosis, Costochondral pain, Osteoarthritis of the smal... OMIM:118610
Poland Syndrome
Sprengel anomaly, Short ribs, Hemivertebrae, Rib fusion OMIM:173800
Dextrocardia With Unusual Facies And Microphthalmia
Vertebral segmentation defect, Supernumerary ribs, Vertebral fusion OMIM:221950
Primary Basilar Invagination
Short neck, Abnormality of the cervical spine, Abnormal vertebral morphology ORPHA:2285
Cervical Vertebral Dysplasia
Anterior atlanto-occipital dislocation, Cervical vertebral dysplasia, Cervical vertebral facet hy... OMIM:118005
Klippel-Feil Syndrome 3, Autosomal Dominant
Thoracic scoliosis, Cervical C5/C6 vertebrae fusion, Cervical C3/C4 vertebral fusion OMIM:613702
Radioulnar Synostosis-Microcephaly-Scoliosis Syndrome
Pectus carinatum, Abnormality of the elbow, Abnormal rib morphology, Delayed skeletal maturation,... ORPHA:3268
Diaphanospondylodysostosis
Absent or minimally ossified vertebral bodies, Abnormal vertebral segmentation and fusion, Missin... ORPHA:66637
Brachyolmia, Maroteaux Type
Pectus excavatum, Abnormal form of the vertebral bodies, Short thorax, Platyspondyly, Scoliosis ORPHA:93302
Spondylometaphyseal Dysplasia, Corner Fracture Type
Genu varum, Pectus carinatum, Hyperconvex vertebral body endplates, Ovoid vertebral bodies, Hypop... OMIM:184255
Neural Tube Defects, Folate-Sensitive
Spinal dysraphism OMIM:601634
Galactosialidosis
Abnormality of the vertebral column, Abnormal vertebral morphology ORPHA:351
Multiple Synostoses Syndrome 2
Tarsal synostosis, Proximal symphalangism, Vertebral fusion, Finger symphalangism, Carpal synosto... OMIM:610017
Spondyloepiphyseal Dysplasia Tarda, Kohn Type
Abnormality of the knee, Abnormal vertebral morphology, Restricted large joint movement, Platyspo... ORPHA:163665
Cardioneuromyopathy With Hyaline Masses And Nemaline Rods
Fusion of midcervical facet joints, Widening of cervical spinal canal, Cervical vertebral bodies ... OMIM:606842
Symbrachydactyly Of Hands And Feet
Vertebral segmentation defect, Scoliosis, Abnormality of the humeroulnar joint ORPHA:1570
X-Linked Skeletal Dysplasia-Intellectual Disability Syndrome
Abnormal sacrum morphology, Thoracic hemivertebrae, Scoliosis, Fused cervical vertebrae ORPHA:1436
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 3
Sacral dimple, Vertebral segmentation defect, Short thorax, Vertebral fusion OMIM:618845
Femoral-Facial Syndrome
Cleft palate, Talipes equinovarus, Abnormal localization of kidney, Low-set ears, Short femur, Ve... ORPHA:1988
Kbg Syndrome
Vertebral fusion, Cervical ribs, Vertebral arch anomaly, Thoracic kyphosis, Delayed skeletal matu... OMIM:148050
Isolated Klippel-Feil Syndrome
Abnormality of the vertebral column, Abnormal sacrum morphology, Abnormal vertebral segmentation ... ORPHA:2345
Wildervanck Syndrome
Fused cervical vertebrae OMIM:314600
Cleidocranial Dysplasia, Recessive Form
Severe short stature, Brachycephaly OMIM:216330
Klippel-Feil Syndrome 2, Autosomal Recessive
Cervical C2/C3 vertebral fusion, Fused cervical vertebrae, Sprengel anomaly, Short neck, Scoliosis OMIM:214300
Autosomal Dominant Brachyolmia
Kyphoscoliosis, Short thorax, Platyspondyly, Increased vertebral height ORPHA:93304
Acromesomelic Dysplasia, Maroteaux Type
Vertebral wedging, Beaking of vertebral bodies, Abnormal form of the vertebral bodies, Ovoid vert... ORPHA:40
Osteoarthritis With Mild Chondrodysplasia
Heberden's node, Hip osteoarthritis, Schmorl's node, Irregular vertebral endplates, Beaking of ve... OMIM:604864
Becker Nevus Syndrome
Pectus excavatum, Pectus carinatum, Kyphosis, Supernumerary ribs, Rib fusion, Spina bifida occult... ORPHA:64755
Contractures, Pterygia, And Spondylocarpotarsal Fusion Syndrome 1A
Tarsal synostosis, Vertebral fusion, Hemivertebrae, Hip contracture, Pectus carinatum, Craniosyno... OMIM:178110
Contractures, Pterygia, And Spondylocarpotarsal Fusion Syndrome 1B
Tarsal synostosis, Fused thoracic vertebrae, Fused cervical vertebrae, Antecubital pterygium, Fle... OMIM:618469
Mental Retardation, Skeletal Dysplasia, And Abducens Palsy
Prominent metopic ridge, Thoracic hemivertebrae, Scoliosis, Fused cervical vertebrae OMIM:309620
Osteomesopyknosis
Sclerotic vertebral body, Abnormal form of the vertebral bodies, Kyphosis, Increased bone mineral... ORPHA:2777
Endosteal Hyperostosis, Worth Type
Sclerotic vertebral body, Generalized osteosclerosis, Abnormal form of the vertebral bodies, Clav... ORPHA:2790
Sprengel Deformity
Cervical segmentation defect, Hemivertebrae, Rib segmentation abnormalities, Sprengel anomaly, Sp... OMIM:184400
Autosomal Recessive Spondylocostal Dysostosis
Hypospadias, Abnormal intervertebral disk morphology, Abnormality of the ureter, Cleft palate, Ab... ORPHA:2311
Heart Defects-Limb Shortening Syndrome
Abnormal form of the vertebral bodies, Kyphosis, Narrow chest, Abnormal rib morphology, Accelerat... ORPHA:1354
Kyphomelic Dysplasia
Anterior rib cupping, Lateral clavicle hook, Abnormal form of the vertebral bodies, Missing ribs,... ORPHA:1801
Spondylocostal Dysostosis 6, Autosomal Recessive
Spinal canal stenosis, Butterfly vertebrae, Hemivertebrae, Cervical kyphosis, Scoliosis OMIM:616566
Spondyloepiphyseal Dysplasia Tarda, Autosomal Recessive, Leroy-Spranger Type
Intervertebral space narrowing, Genu varum, Pectus carinatum, Irregular vertebral endplates, Plat... OMIM:609223
Spondylocostal Dysostosis With Anal Atresia And Urogenital Anomalies
Vertebral fusion, Hemivertebrae, Thin ribs, Missing ribs, Short ribs, Supernumerary vertebrae, Bl... OMIM:271520
X-Linked Intellectual Disability-Plagiocephaly Syndrome
Plagiocephaly, Flat occiput, Brachycephaly ORPHA:2898
Isolated Plagiocephaly
Plagiocephaly, Midface retrusion, Frontal bossing ORPHA:35098
Asymmetric Short Stature Syndrome
Lumbar scoliosis, Fused cervical vertebrae OMIM:108450
Familial Congenital Mirror Movements
Fused cervical vertebrae ORPHA:238722
Vater-Like Defects With Pulmonary Hypertension, Laryngeal Webs, And Growth Deficiency
Posterior rib fusion, Pectus excavatum, Hemivertebrae, Abnormal rib cage morphology OMIM:608406
Spondylometaphyseal Dysplasia, A4 Type
Flared, irregular rib ends, Platyspondyly, Limitation of joint mobility ORPHA:168555
Spondyloepiphyseal Dysplasia, Stanescu Type
Stiff neck, Beaking of vertebral bodies, Kyphoscoliosis, Platyspondyly, Joint stiffness OMIM:616583
Cardiospondylocarpofacial Syndrome
Tarsal synostosis, Fused cervical vertebrae, Carpal synostosis, Delayed skeletal maturation, Rib ... OMIM:157800
Sporadic Fetal Brain Disruption Sequence
Plagiocephaly, Prominent occiput ORPHA:1665
Second Metatarsal-Metacarpal Syndrome
Synostosis of carpals/tarsals, Platyspondyly OMIM:269630
Cleft Palate-Short Stature-Vertebral Anomalies Syndrome
Short neck, Abnormal vertebral morphology ORPHA:2015
Kuskokwim Syndrome
Aplasia/Hypoplasia of the patella, Abnormal clavicle morphology, Abnormal form of the vertebral b... ORPHA:1149
Keratoconus Posticus Circumscriptus
Abnormal vertebral segmentation and fusion, Short neck, Limited elbow extension and supination OMIM:244600
Microcephaly-Cervical Spine Fusion Anomalies Syndrome
Pectus excavatum, Abnormal clavicle morphology, Fused cervical vertebrae, Kyphosis, Abnormal rib ... ORPHA:2522
Microphthalmia, Syndromic 3
Hypospadias, Butterfly vertebrae, Vertebral fusion, Hemivertebrae, Hypogonadotropic hypogonadism,... OMIM:206900
Brachydactyly, Type B1
Vertebral fusion, Hemivertebrae, Joint contracture of the hand, Hypoplastic sacrum, Camptodactyly... OMIM:113000
Verheij Syndrome
Vertebral fusion, Hemivertebrae, Hip dislocation, Short neck, Scoliosis OMIM:615583
Lower Limb Malformation-Hypospadias Syndrome
Hypospadias, Abnormality of the ureter, Macrotia, Low-set, posteriorly rotated ears, Sacral dimpl... ORPHA:2487
Spondylocamptodactyly Syndrome
Scoliosis, Platyspondyly, Camptodactyly of finger ORPHA:3180
Osteogenesis Imperfecta, Type Ix
Decreased calvarial ossification, Pectus excavatum, Pectus carinatum, Wormian bones, Platyspondyl... OMIM:259440
Osteogenesis Imperfecta, Type Xix
Biconcave vertebral bodies, Pectus excavatum, Vertebral wedging, Pectus carinatum, Osteopenia, Re... OMIM:301014
Mesomelic Dysplasia, Kantaputra Type
Tarsal synostosis, Cubitus valgus, Synostosis of carpal bones, Abnormal rib morphology, Abnormali... ORPHA:1836
Proximal 16P11.2 Microdeletion Syndrome
Pyloric stenosis, Conductive hearing impairment, Cleft palate, Abnormal vertebral morphology, Cho... ORPHA:261197
Acropectorovertebral Dysplasia
Capitate-hamate fusion, Abnormal vertebral morphology, Spina bifida occulta at S1, Synostosis of ... OMIM:102510
Metatropic Dysplasia
Long thorax, Abnormal intervertebral disk morphology, Abnormal form of the vertebral bodies, Kyph... ORPHA:2635
Maternal Uniparental Disomy Of Chromosome 9
Elbow ankylosis, Abnormal vertebral morphology, Hamstring contractures, Osteochondrosis, Kyphosco... ORPHA:96183
Developmental And Speech Delay Due To Sox5 Deficiency
Thoracic kyphoscoliosis, Butterfly vertebrae, Vertebral fusion, Pectus carinatum, Scoliosis, Lumb... ORPHA:313892
Cerebrofaciothoracic Dysplasia
Hemivertebrae, Bifid ribs, Sprengel anomaly, Narrow chest, Rib fusion, Short neck, Vertebral segm... ORPHA:1394
Acrodysplasia Scoliosis
Vertebral segmentation defect, Scoliosis, Spina bifida occulta ORPHA:2956
Spondylocostal Dysostosis-Anal Atresia-Genitourinary Malformation Syndrome
Vertebral fusion, Hemivertebrae, 11 pairs of ribs, Narrow chest, Rib fusion, Short neck, Scoliosis ORPHA:94095
Trigonobrachycephaly, Bulbous Bifid Nose, Micrognathia, And Abnormalities Of The Hands And Feet
Trigonocephaly, Prominent metopic ridge, Brachycephaly OMIM:275595
Prune Belly Syndrome
Talipes equinovarus, Volvulus, Urogenital sinus anomaly, Intestinal atresia, Vertebral segmentati... ORPHA:2970
Multiple Pterygium Syndrome, X-Linked
Vertebral fusion, Thin ribs, Increased susceptibility to fractures, Joint dislocation, Flexion co... OMIM:312150
Epiphyseal Dysplasia, Multiple, 6
Abnormality of the knee, Schmorl's node, Irregular vertebral endplates, Knee pain, Intervertebral... OMIM:614135
Congenital Amegakaryocytic Thrombocytopenia
Decreased skull ossification, Short neck, Abnormal form of the vertebral bodies, Scoliosis ORPHA:3319
Muscular Dystrophy-Dystroglycanopathy (Congenital With Or Without Impaired Intellectual Development), Type B, 5
Vertebral fusion, Achilles tendon contracture, Kyphosis, Hyperlordosis, Scoliosis OMIM:606612
Craniosynostosis 6
Plagiocephaly, Brachycephaly, Craniosynostosis, Turricephaly, Delayed cranial suture closure, Spi... OMIM:616602
Ring Chromosome 21 Syndrome
Fused thoracic vertebrae, Thoracic hemivertebrae, Scoliosis, Abnormal thorax morphology ORPHA:1445
Dysspondyloenchondromatosis
Osteoarthritis, Kyphoscoliosis, Generalized joint laxity, Joint dislocation, Platyspondyly, Genu ... ORPHA:85198
Multiple Pterygium Syndrome, Lethal Type
Vertebral fusion, Thin ribs, Increased susceptibility to fractures, Joint dislocation, Flexion co... OMIM:253290
Spondyloepiphyseal Dysplasia, Maroteaux Type
Platyspondyly, Genu valgum OMIM:184095
Spondylometaphyseal Dysplasia, Type A4
Pectus carinatum, Platyspondyly, Costochondral joint sclerosis, Ovoid vertebral bodies, Osteoporo... OMIM:609052
Neurodevelopmental Disorder With Nonspecific Brain Abnormalities And With Or Without Seizures
Abnormal vertebral morphology OMIM:618709
Kleefstra Syndrome 2
Plagiocephaly, Midface retrusion, Growth delay OMIM:617768
Becker Nevus Syndrome
Pectus excavatum, Cervical ribs, Scoliosis, Hemivertebrae OMIM:604919
Mayer-Rokitansky-Küster-Hauser Syndrome Type 2
Short neck, Vertebral segmentation defect, Abnormal rib morphology ORPHA:2578
Klippel-Feil Syndrome 1, Autosomal Dominant
Abnormal vertebral segmentation and fusion, Cervical C2/C3 vertebral fusion, Sprengel anomaly, Sh... OMIM:118100
Chromosome 15Q11.2 Deletion Syndrome
Plagiocephaly, Abnormal heart morphology OMIM:615656
Wildervanck Syndrome
Short neck, Fused cervical vertebrae ORPHA:3456
Hypogonadism, Male, With Mental Retardation And Skeletal Anomalies
Abnormality of the cervical spine, Superior rib anomalies OMIM:307500
Gómez-López-Hernández Syndrome
Short stature, Brachycephaly, Hydrocephalus, Turricephaly, Midface retrusion ORPHA:1532
Osteogenesis Imperfecta, Type Vi
Biconcave vertebral bodies, Beaking of vertebral bodies, Increased susceptibility to fractures, V... OMIM:613982
Multiple Epiphyseal Dysplasia, Al-Gazali Type
Pectus excavatum, Abnormal vertebral morphology, Delayed epiphyseal ossification, Genu valgum, En... ORPHA:166024
Congenital Muscular Dystrophy, Fukuyama Type
Plagiocephaly, Dilated cardiomyopathy, Intrauterine growth retardation, Brachycephaly, Dolichocep... ORPHA:272
Osteogenesis Imperfecta, Type Xv
Thin ribs, Platyspondyly, Joint hypermobility, Bowing of limbs due to multiple fractures, Recurre... OMIM:615220
Kbg Syndrome
Vertebral fusion, Cervical ribs, Thoracic kyphosis, Delayed skeletal maturation, Short neck, Scol... ORPHA:2332
Pentasomy X
Plagiocephaly, Abnormal cardiac septum morphology, Delayed puberty, Short stature ORPHA:11
Adenylosuccinate Lyase Deficiency
Flat occiput, Hypointensity of cerebral white matter on MRI, Brachycephaly, Prominent metopic rid... ORPHA:46
Spina Bifida-Hypospadias Syndrome
Spina bifida, Spinal dysraphism ORPHA:3176
Short Stature, Amelogenesis Imperfecta, And Skeletal Dysplasia With Scoliosis
Thoracic hypoplasia, Knee dislocation, Coronal cleft vertebrae, Hip contracture, Abnormal vertebr... OMIM:618363
Pontine Tegmental Cap Dysplasia
Scoliosis, Ankle clonus, Hemivertebrae, Rib fusion OMIM:614688
Multiple Pterygium Syndrome, Escobar Variant
Dysplastic patella, Long clavicles, Popliteal pterygium, Intercrural pterygium, Patellar aplasia,... OMIM:265000
Bruck Syndrome 1
Ankle flexion contracture, Hip contracture, Vertebral wedging, Pectus carinatum, Increased suscep... OMIM:259450
Mayer-Rokitansky-Küster-Hauser Syndrome
Abnormal sacrum morphology, Abnormal form of the vertebral bodies, Vertebral segmentation defect,... ORPHA:3109
Thoracolaryngopelvic Dysplasia
Horizontal ribs, Irregular chondrocostal junctions, Irregular vertebral endplates, Short ribs, Be... OMIM:187760
Corpus Callosum Agenesis-Macrocephaly-Hypertelorism Syndrome
Plagiocephaly ORPHA:459074
Spondylosis, Cervical
Spondylolysis, Spina bifida occulta, Spondylolisthesis, Cervical spondylosis, Osteoarthritis OMIM:184300
Autism, Susceptibility To, X-Linked 2
Plagiocephaly OMIM:300495
Postaxial Polydactyly-Dental And Vertebral Anomalies Syndrome
Vertebral fusion, Hemivertebrae, Abnormal form of the vertebral bodies, Kyphosis, Patellar disloc... ORPHA:2916
Neurodevelopmental Disorder And Language Delay With Or Without Structural Brain Abnormalities
Plagiocephaly, Abnormal cardiac septum morphology, Umbilical hernia OMIM:618354
Structural Brain Anomalies With Impaired Intellectual Development And Craniosynostosis
Flat occiput, Bicoronal synostosis, Delayed closure of the anterior fontanelle, Brachycephaly, Di... OMIM:618736
Autosomal Recessive Cerebellar Ataxia-Epilepsy-Intellectual Disability Syndrome Due To Tud Deficiency
Brachycephaly ORPHA:404493
Polydactyly, Postaxial, With Dental And Vertebral Anomalies
Tarsal synostosis, Spinal canal stenosis, Pectus excavatum, Vertebral fusion, Hemivertebrae, Pect... OMIM:263540
Spinal Dysplasia, Anhalt Type
Spinal dysplasia, Osteoarthritis of the small joints of the hand, Absent spinous processes of low... OMIM:601344
Craniofacial Dyssynostosis With Short Stature
Brachyturricephaly, Ventricular septal defect, Abnormal shape of the occiput, Short stature, Brac... OMIM:218350
Gorlin Syndrome
Hemivertebrae, Scoliosis, Vertebral fusion, Vertebral wedging ORPHA:377
Cebalid Syndrome
Plagiocephaly, Brachycephaly, Platystencephaly, Turricephaly, Midface retrusion, Dolichocephaly OMIM:618774
Humero-Radio-Ulnar Synostosis
Abnormality of the ureter, Aplasia/Hypoplasia of the thumb, Abnormal thumb morphology, Abnormalit... ORPHA:3266
Spondylometaphyseal Dysplasia, Kozlowski Type
Irregular acetabular roof, Pectus carinatum, Kyphoscoliosis, Platyspondyly, Abnormal rib cage mor... OMIM:184252
Spondyloepiphyseal Dysplasia Tarda, Autosomal Dominant
Cervical subluxation, Irregular vertebral endplates, Pectus carinatum, Kyphoscoliosis, Avascular ... OMIM:184100
Isolated Brachycephaly
Midface retrusion, Brachycephaly ORPHA:35099
Arthrogryposis, Cleft Palate, Craniosynostosis, And Impaired Intellectual Development
Plagiocephaly, Craniosynostosis, Short stature, Trigonocephaly OMIM:618265
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 5
Vertebral fusion, Achilles tendon contracture, Kyphosis, Hyperlordosis, Scoliosis OMIM:607155
Otopalatodigital Syndrome Type 1
Abnormal vertebral segmentation and fusion, Synostosis of carpal bones, Increased bone mineral de... ORPHA:90650
Neurogenic Thoracic Outlet Syndrome
Abnormal rib morphology ORPHA:100073
Klippel-Feil Syndrome 4, Autosomal Recessive, With Nemaline Myopathy And Facial Dysmorphism
Cervical C2/C3 vertebral fusion, Flexion contracture, Acetabular dysplasia, Short neck, Thoracolu... OMIM:616549
Pallister-Hall Syndrome
Cleft palate, Renal dysplasia, Microglossia, Distal shortening of limbs, Micropenis, Syndactyly, ... OMIM:146510
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 3
Knee dislocation, Thin ribs, Irregular vertebral endplates, Multiple joint dislocation, Platyspon... OMIM:618395
Mosaic Trisomy 14
Hypospadias, Cleft palate, High palate, Ectopic anus, Low-set, posteriorly rotated ears, Narrow c... ORPHA:1703
Greenberg Dysplasia
Anterior rib punctate calcifications, Abnormal form of the vertebral bodies, Platyspondyly, Decre... ORPHA:1426
Spondylometaphyseal Dysplasia, Axial
Thoracic hypoplasia, Anterior rib cupping, Platyspondyly OMIM:602271
Lessel-Kreienkamp Syndrome
Plagiocephaly, Bicuspid aortic valve, Pulmonic stenosis, Frontal bossing, Wide cranial sutures, S... OMIM:619149
Spondyloepimetaphyseal Dysplasia, Irapa Type
Capitate-hamate fusion, Pectus carinatum, Platyspondyly, Genu valgum, Hypoplastic sacrum, Limited... OMIM:271650
Kniest Dysplasia
Coronal cleft vertebrae, Vertebral wedging, Laryngotracheomalacia, Abnormal joint morphology, Sho... ORPHA:485
Spondylometaphyseal Dysplasia, 'Corner Fracture' Type
Genu varum, Reduced bone mineral density, Intervertebral space narrowing, Vertebral fusion, Verte... ORPHA:93315
Autosomal Recessive Multiple Pterygium Syndrome
Cleft palate, Morphological abnormality of the gastrointestinal tract, Abnormal sternum morpholog... ORPHA:2990
Myotonia With Skeletal Abnormalities And Mental Retardation
Pectus carinatum, Vertebral wedging, Kyphoscoliosis, Genu valgum, Bell-shaped thorax OMIM:255710
Spondyloepimetaphyseal Dysplasia, Irapa Type
Abnormal joint morphology, Pectus carinatum, Osteoporosis, Platyspondyly, Synostosis of carpal bo... ORPHA:93351
Severe Intellectual Disability-Epilepsy-Anal Anomalies-Distal Phalangeal Hypoplasia
Plagiocephaly, Ventricular septal defect ORPHA:94066
Axial Mesodermal Dysplasia Spectrum
Hydronephrosis, Abnormality of the ureter, Abnormal intestine morphology, Abnormal morphology of ... ORPHA:1834
Male Hypergonadotropic Hypogonadism-Intellectual Disability-Skeletal Anomalies Syndrome
Abnormality of the humeroulnar joint, Hemivertebrae, Abnormal form of the vertebral bodies, Abnor... ORPHA:2234
Fibrodysplasia Ossificans Progressiva
Ectopic ossification in muscle tissue, Ectopic ossification in ligament tissue, Abnormal vertebra... ORPHA:337
Fibrodysplasia Ossificans Progressiva
Ectopic ossification in muscle tissue, Ectopic ossification in ligament tissue, Progressive cervi... OMIM:135100
Stapes Ankylosis With Broad Thumbs And Toes
Proximal/middle symphalangism of 5th finger, Fused cervical vertebrae OMIM:184460
Robinow Syndrome, Autosomal Recessive 1
Duplication of the distal phalanx of hand, Absent uvula, Broad toe, Micropenis, Hypoplastic sacru... OMIM:268310
Osteosclerosis-Developmental Delay-Craniosynostosis Syndrome
Craniosynostosis, Thickened calvaria, Brachycephaly ORPHA:178377
Neurodevelopmental Disorder With Dysmorphic Facies And Variable Seizures
Plagiocephaly, Frontal bossing OMIM:619264
Crouzon Syndrome With Acanthosis Nigricans
Midface retrusion, Craniosynostosis, Hydrocephalus, Brachycephaly OMIM:612247
Intellectual Developmental Disorder, X-Linked, Syndromic, Wu Type
Short stature, Brachycephaly OMIM:300699
Frontometaphyseal Dysplasia 1
Increased density of long bone diaphyses, Ankle flexion contracture, Partial fusion of carpals, C... OMIM:305620
Neurodevelopmental Disorder With Structural Brain Anomalies And Dysmorphic Facies
Plagiocephaly, Midface retrusion, Brachycephaly, Unilambdoid synostosis OMIM:618577
Aminopterin Syndrome Sine Aminopterin
Intrauterine growth retardation, Megalencephaly, Short stature, Brachycephaly, Frontal bossing, U... OMIM:600325
Lamb-Shaffer Syndrome
Thoracic kyphosis, Scoliosis, Fused cervical vertebrae ORPHA:530983
Craniosynostosis-Hydrocephalus-Arnold-Chiari Malformation Type I-Radioulnar Synostosis Syndrome
Large fontanelles, Brachycephaly, Craniosynostosis, Abnormality of the septum pellucidum, Patent ... ORPHA:171839
Spondyloepimetaphyseal Dysplasia With Joint Laxity
Abnormality of the elbow, Abnormal vertebral morphology, Beaking of vertebral bodies, Pectus cari... ORPHA:93359
Autosomal Dominant Spastic Paraplegia Type 29
Babinski sign, Clonus, Abnormality of the lower urinary tract, Hearing impairment, Abnormal rectu... ORPHA:101009
Osteogenesis Imperfecta, Type Xvi
Joint hypermobility, Vertebral compression fracture, Beaded ribs, Osteopenia OMIM:616229
Lateral Meningocele Syndrome
Biconcave vertebral bodies, Pectus excavatum, Vertebral fusion, Sclerosis of skull base, Wormian ... OMIM:130720
Lethal Congenital Contracture Syndrome Type 1
Abnormality of the elbow, Abnormal form of the vertebral bodies, Short neck, Abnormal rib morphol... ORPHA:1486
Microcephaly-Microcornea Syndrome, Seemanova Type
Growth delay, Short stature, Brachycephaly ORPHA:2528
Craniosynostosis 4
Flat occiput, Lambdoidal craniosynostosis, Anterior plagiocephaly, Frontal bossing, Posterior pla... OMIM:600775
Intellectual Developmental Disorder With Behavioral Abnormalities And Craniofacial Dysmorphism With Or Without Seizures
Plagiocephaly OMIM:618725
Cervical Ribs, Sprengel Anomaly, Anal Atresia, And Urethral Obstruction
Renal hypoplasia, Talipes equinovarus, Hypertrophy of the urinary bladder, Renal dysplasia, Anal ... OMIM:601389
Summitt Syndrome
Plagiocephaly, Prominent metopic ridge, Craniosynostosis ORPHA:3210
Fetal Trimethadione Syndrome
Ventricular septal defect, Intrauterine growth retardation, Brachycephaly, Transposition of the g... ORPHA:1913
Neurodevelopmental Disorder With Microcephaly, Impaired Language, Epilepsy, And Gait Abnormalities
Pectus excavatum, Large fleshy ears, Overfolded helix, Myoclonus, Arachnodactyly, Stereotypy, Tre... OMIM:619092
Aicardi Syndrome
Butterfly vertebrae, Cleft palate, Bifid ribs, Hemiplegia/hemiparesis, Missing ribs, Malabsorptio... ORPHA:50
Ritscher-Schinzel Syndrome 1
Ventricular septal defect, Intrauterine growth retardation, Brachycephaly, Double outlet right ve... OMIM:220210
Alkaptonuria
Vertebral fusion, Intervertebral disc degeneration, Arthritis, Kyphosis, Limited hip movement, Li... OMIM:203500
Neurogenic Arthrogryposis Multiplex Congenita
Plagiocephaly, Abnormal heart morphology, Scaphocephaly ORPHA:1143
Spondyloepimetaphyseal Dysplasia, Borochowitz-Cormier-Daire Type
Thoracic hypoplasia, Platyspondyly, Posterior rib cupping, Ovoid vertebral bodies, Limited elbow ... OMIM:608728
Idiopathic Juvenile Osteoporosis
Osteoporosis, Kyphosis, Vertebral compression fracture, Recurrent fractures, Bone pain ORPHA:85193
Platyspondylic Lethal Skeletal Dysplasia, Torrance Type
Thin ribs, Short ribs, Severe platyspondyly, Disc-like vertebral bodies, Narrow chest, Decreased ... OMIM:151210
Chromosome 3Q13.31 Deletion Syndrome
Plagiocephaly, Dolichocephaly, Brachycephaly OMIM:615433
Aarskog-Scott Syndrome
Pectus excavatum, Abnormal vertebral segmentation and fusion, Genu recurvatum, Abnormality of the... ORPHA:915
Mental Retardation, X-Linked, Syndromic 12
Postnatal growth retardation, Brachycephaly OMIM:309545
Neurodevelopmental Disorder With Epilepsy, Cataracts, Feeding Difficulties, And Delayed Brain Myelination
Scoliosis, Spasticity, Stereotypy OMIM:617393
Coffin-Siris Syndrome 6
Plagiocephaly, Short stature, Wormian bones, Frontal bossing, Atrial septal defect OMIM:617808
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome
Abnormal clavicle morphology, Platyspondyly, Decreased skull ossification, Narrow chest, Abnormal... ORPHA:93267
Acrofacial Dysostosis, Palagonia Type
Hypoplasia of the odontoid process, Spina bifida occulta at S1, Scoliosis, Abnormal vertebral mor... OMIM:601829
Impaired Intellectual Development And Distinctive Facial Features With Or Without Cardiac Defects
Plagiocephaly, Brachycephaly, Frontal bossing, Transposition of the great arteries, Patent forame... OMIM:616789
Spondylomegaepiphyseal Dysplasia With Upper Limb Mesomelia, Punctate Calcifications, And Deafness
Flat acetabular roof, Irregular vertebral endplates, Beaking of vertebral bodies, Platyspondyly, ... OMIM:609616
Baker-Gordon Syndrome
Involuntary movements, Choreoathetosis, Stereotypy, Ataxia, Hyperkinetic movements, Scoliosis, Ga... OMIM:618218
Endosteal Hyperostosis, Autosomal Dominant
Metatarsal diaphyseal endosteal sclerosis, Clavicular sclerosis, Metacarpal diaphyseal endosteal ... OMIM:144750
Phocomelia-Ectrodactyly, Ear Malformation, Deafness, And Sinus Arrhythmia
Long clavicles, Genu varum, Lateral clavicle hook, Shoulder dislocation, Anterior vertebral fusio... OMIM:171480
Spastic Paraplegia-Intellectual Disability-Nystagmus-Obesity Syndrome
Plagiocephaly ORPHA:521390
Schneckenbecken Dysplasia
Anterior rib cupping, Lateral clavicle hook, Hypoplastic scapulae, Short ribs, Ovoid vertebral bo... OMIM:269250
Intellectual Developmental Disorder With Speech Delay, Autism, And Dysmorphic Facies
Plagiocephaly, Prominent occiput, Dolichocephaly, Brachycephaly OMIM:618672
Muenke Syndrome
Plagiocephaly, Midface retrusion, Coronal craniosynostosis, Brachycephaly OMIM:602849
Chromosome 3Q29 Deletion Syndrome
Pectus excavatum, Pectus carinatum, Tapered finger, Long fingers, Macrotia, Posteriorly rotated e... OMIM:609425
Osteomyelitis, Sterile Multifocal, With Periostitis And Pustulosis
Osteomyelitis, Osteopenia, Fused cervical vertebrae, Flaring of rib cage, Broad ribs, Joint swell... OMIM:612852
Craniosynostosis 2
Brachyturricephaly, Brachycephaly, Trigonocephaly, Craniosynostosis, Frontal bossing, Turricephal... OMIM:604757
Hydrocephalus-Costovertebral Dysplasia-Sprengel Anomaly Syndrome
Hemivertebrae, Abnormal form of the vertebral bodies, Sprengel anomaly, Abnormal rib morphology, ... ORPHA:2180
Caudal Regression Sequence
Ureteral duplication, Abnormality of the ureter, Renal agenesis, Talipes equinovarus, Abnormal ve... ORPHA:3027
Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency
Plagiocephaly, Ventricular septal defect, Short stature, Brachycephaly, Abnormal heart morphology... ORPHA:369891
Hypo- And Hypermelanotic Cutaneous Macules-Retarded Growth-Intellectual Disability Syndrome
Abnormal rib morphology ORPHA:2435
Femoral-Facial Syndrome
Cleft palate, Talipes equinovarus, Micropenis, Short humerus, Short fourth metatarsal, Low-set ea... OMIM:134780
Juberg-Hayward Syndrome
Hypospadias, Horseshoe kidney, Toe syndactyly, Abnormal vertebral morphology, Hammertoe, Hypoplas... ORPHA:2319
Thanatophoric Dysplasia, Type Ii
Small abnormally formed scapulae, Wide-cupped costochondral junctions, Short ribs, Platyspondyly,... OMIM:187601
Microcephaly-Corpus Callosum And Cerebellar Vermis Hypoplasia-Facial Dysmorphism-Intellectual Disability Syndrom
Plagiocephaly, Bicuspid aortic valve, Ventricular septal defect, Abnormal heart morphology, Paten... ORPHA:500159
Non-Distal Trisomy 10Q
Frontal bossing, Short stature, Microcephaly, Brachycephaly ORPHA:1695
Neurodevelopmental Disorder With Hypotonia, Microcephaly, And Seizures
Plagiocephaly, Prominent metopic ridge, Short stature, Brachycephaly OMIM:618862
Peutz-Jeghers Syndrome
Abnormality of the ureter, Rectal prolapse, Cervix cancer, Stomach cancer, Gastrointestinal infar... ORPHA:2869
Spondyloepimetaphyseal Dysplasia, Strudwick Type
C1-C2 subluxation, Anterior rib cupping, Pectus carinatum, Delayed pubic bone ossification, Platy... OMIM:184250
Aicardi Syndrome
Butterfly vertebrae, Hemivertebrae, Bifid ribs, Block vertebrae, Missing ribs, Supernumerary ribs... OMIM:304050
Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 2
Plagiocephaly, Intrauterine growth retardation, Frontal bossing, Brachycephaly OMIM:616801
Rhizomelic Limb Shortening With Dysmorphic Features
Plagiocephaly, Rhizomelia, Patent foramen ovale OMIM:618821
Neural Tube Defects, X-Linked
Spina bifida, Anencephaly OMIM:301410
Anencephaly 1
Spina bifida, Anencephaly OMIM:206500
Laryngotracheoesophageal Cleft Type 4
Abnormal form of the vertebral bodies, Abnormal rib morphology ORPHA:93941
Mental Retardation, Autosomal Dominant 58
Plagiocephaly OMIM:618106
Spondylocarpotarsal Synostosis Syndrome
Tarsal synostosis, Hypoplasia of the odontoid process, Vertebral fusion, Capitate-hamate fusion, ... OMIM:272460
Paternal Uniparental Disomy Of Chromosome 5
Rhizomelic arm shortening, Secundum atrial septal defect, Posterior plagiocephaly ORPHA:96190
Septopreoptic Holoprosencephaly
Abnormal rib morphology, Abnormal vertebral morphology ORPHA:280195
Cog1-Cdg
Irregularity of vertebral bodies, Butterfly vertebrae, Kyphoscoliosis, Osteopenia, Posterior rib ... ORPHA:263508
Craniosynostosis And Dental Anomalies
Brachycephaly, Trigonocephaly, Craniosynostosis, Sagittal craniosynostosis, Scaphocephaly, Turric... OMIM:614188
Vacterl/Vater Association
Hypospadias, Abnormal intervertebral disk morphology, Bifid scrotum, Cleft palate, Abnormal morph... ORPHA:887
Wolf-Hirschhorn Syndrome
Abnormality of the vertebral column, Hypospadias, Cleft palate, Talipes equinovarus, Chronic otit... ORPHA:280
Craniodigital-Intellectual Disability Syndrome
Spina bifida occulta, Short stature, Brachycephaly ORPHA:1514
Craniofacial Dysmorphism, Skeletal Anomalies, And Mental Retardation Syndrome
Hemivertebrae, Bifid ribs, Beaking of vertebral bodies, Craniosynostosis, Joint hypermobility, Sa... OMIM:213980
Axial Spondylometaphyseal Dysplasia
Flat acetabular roof, Posterior wedging of vertebral bodies, Thoracic hypoplasia, Aplasia/Hypopla... ORPHA:168549
Autosomal Recessive Robinow Syndrome
Broad hallux phalanx, Chronic otitis media, Hearing impairment, Finger syndactyly, Camptodactyly ... ORPHA:1507
Visceral Myopathy 2
Dysphagia, Rectal prolapse, Megaduodenum, Intestinal pseudo-obstruction, Megacystis, Volvulus, Es... OMIM:619350
Mental Retardation, Autosomal Dominant 13
Plagiocephaly OMIM:614563
Axin2-Related Attenuated Familial Adenomatous Polyposis
Colorectal polyposis, Neoplasm of the rectum, Adenomatous colonic polyposis, Colon cancer ORPHA:401911
Diastrophic Dysplasia
Abnormal clavicle morphology, Abnormal form of the vertebral bodies, Joint dislocation, Kyphosis,... ORPHA:628
Robinow Syndrome
Micropenis, Syndactyly, Low-set ears, Webbed penis, Posteriorly rotated ears, Acromesomelia, Bifi... ORPHA:97360
Ring Chromosome 8 Syndrome
Deviation of finger, Round ear, Hydronephrosis, Abnormality of the ureter ORPHA:1450
Imperforate Oropharynx-Costovertebral Anomalies Syndrome
Hemivertebrae, Abnormal form of the vertebral bodies, Missing ribs, Abnormal rib morphology, Join... ORPHA:2759
Warburg Micro Syndrome 4
Perisylvian polymicrogyria, Severe postnatal growth retardation, Short stature, Brachycephaly, Se... OMIM:615663
Potocki-Shaffer Syndrome
Turricephaly, Wormian bones, Brachycephaly, Parietal foramina OMIM:601224
Hereditary Sensory And Autonomic Neuropathy Due To Tecpr2 Mutation
Short stature, Brachycephaly, Cerebral atrophy, Hypoplasia of the corpus callosum, Microcephaly ORPHA:320385
Fanconi Anemia, Complementation Group O
Hydronephrosis, External genital hypoplasia, Renal cyst, Stage 5 chronic kidney disease, Rectal a... OMIM:613390
Basal Cell Nevus Syndrome
Irregular ossification of hand bones, Vertebral fusion, Hemivertebrae, Vertebral wedging, Bifid r... OMIM:109400
Vertebral Hypersegmentation And Orofacial Anomalies
Pectus excavatum, Joint hypermobility, Supernumerary ribs, Scapular winging, Six lumbar vertebrae OMIM:619122
Ganglioneuroma
Colorectal polyposis, Functional intestinal obstruction, Abnormal prostate morphology, Gastrointe... ORPHA:251992
Mosaic Trisomy 20
Spinal canal stenosis, Limited pronation/supination of forearm, Vertebral fusion, Fused cervical ... ORPHA:1724
Humeroradial Synostosis With Craniofacial Anomalies
Plagiocephaly, Frontal bossing, Brachycephaly OMIM:236410
3-Hydroxyisobutyryl-Coa Hydrolase Deficiency
Abnormality of the vertebral column, Abnormal vertebral morphology OMIM:250620
Jeune Syndrome
Toe syndactyly, Abnormal sternum morphology, Abnormal clavicle morphology, Nephronophthisis, Shor... ORPHA:474
Neurodevelopmental Disorder With Hypotonia And Variable Intellectual And Behavioral Abnormalities
Plagiocephaly, Brachycephaly OMIM:618603
Chromosome 14Q11-Q22 Deletion Syndrome
Plagiocephaly, Ventricular septal defect, Patent foramen ovale, Growth delay OMIM:613457
Cornelia De Lange Syndrome 2
Hypertrophic cardiomyopathy, Intrauterine growth retardation, Short stature, Brachycephaly, Postn... OMIM:300590
Trisomy 13
High, narrow palate, Hydronephrosis, Abnormality of the ureter, Cleft palate, Abnormal morphology... ORPHA:3378
Kleefstra Syndrome Due To A Point Mutation
Plagiocephaly, Short stature, Brachycephaly, Abnormal heart morphology, Midface retrusion, Umbili... ORPHA:261652
Cat-Eye Syndrome
Hydronephrosis, Abnormal localization of kidney, Anal atresia, Hearing impairment, Renal hypoplas... ORPHA:195
Neuropathy, Hereditary Sensory And Autonomic, Type Ix, With Developmental Delay
Short stature, Brachycephaly, Cerebral atrophy, Hypoplasia of the corpus callosum, Microcephaly OMIM:615031
Menkes Disease
Intrauterine growth retardation, Wormian bones, Short stature, Brachycephaly OMIM:309400
Recombinant Chromosome 8 Syndrome
Ventricular septal defect, Growth delay, Brachycephaly, Double outlet right ventricle, Patent duc... OMIM:179613
Camptodactyly Syndrome, Guadalajara Type 1
Intrauterine growth retardation, Short stature, Brachycephaly, Spina bifida, Midface retrusion, M... ORPHA:1327
Hemangiomatosis, Cutaneous, With Associated Features
Abnormality of the vertebral column, Joint laxity, Joint hyperflexibility, Abnormal vertebral mor... OMIM:234800
Vertebral, Cardiac, Tracheoesophageal, Renal, And Limb Defects
Pectus excavatum, Butterfly vertebrae, Fused cervical vertebrae, Sprengel anomaly, Spina bifida o... OMIM:619227
Craniofrontonasal Dysplasia
Plagiocephaly, Craniosynostosis, Frontal bossing, Brachycephaly ORPHA:1520
Craniofacial Dysostosis With Diaphyseal Hyperplasia
Thin calvarium, Short stature, Brachycephaly OMIM:122900
Global Developmental Delay-Alopecia-Macrocephaly-Facial Dysmorphism-Structural Brain Anomalies Syndrome
Celiac disease, Tapered finger, Macrotia, Tapered toe, Sensorineural hearing impairment, Sacral d... ORPHA:544488
6Q25 Microdeletion Syndrome
Plagiocephaly, Short stature ORPHA:251056
Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked
Hypospadias, Large earlobe, Hydronephrosis, Butterfly vertebrae, Megarectum, Talipes equinovarus,... OMIM:301056
Neurodevelopmental Disorder With Brain Anomalies And With Or Without Vertebral Or Cardiac Anomalies
Plagiocephaly, Midface retrusion OMIM:618731
Osteogenesis Imperfecta, Type Xviii
Biconcave vertebral bodies, Thin ribs, Joint laxity, Wormian bones, Joint hypermobility, Vertebra... OMIM:617952
1P36 Deletion Syndrome
Hypospadias, Pyloric stenosis, Abnormal intestine morphology, Stereotypy, Foot polydactyly, 11 pa... ORPHA:1606
Developmental And Epileptic Encephalopathy 65
Plagiocephaly OMIM:618008
White Forelock With Malformations
Sprengel anomaly, Abnormal rib morphology, Delayed skeletal maturation, Spina bifida occulta, Joi... ORPHA:2475
Intellectual Developmental Disorder With Dysmorphic Facies And Behavioral Abnormalities
Plagiocephaly, Short stature OMIM:618089
Mucopolysaccharidosis Type 4
Spinal canal stenosis, Pectus carinatum, Joint dislocation, Platyspondyly, Short thorax, Kyphosis... ORPHA:582
Intellectual Disability-Facial Dysmorphism-Hand Anomalies Syndrome
Cervical C2/C3 vertebral fusion ORPHA:370010
Hennekam Lymphangiectasia-Lymphedema Syndrome 1
Cutaneous finger syndactyly, Rectal prolapse, Talipes equinovarus, Camptodactyly, Low-set ears, E... OMIM:235510
Osteogenesis Imperfecta, Type Ii
Thoracic hypoplasia, Thin ribs, Multiple prenatal fractures, Wormian bones, Platyspondyly, Beaded... OMIM:166210
Dihydropyrimidinase Deficiency
Plagiocephaly, Growth delay OMIM:222748
Nevus Comedonicus Syndrome
Spina bifida occulta, Scoliosis, Abnormal vertebral morphology ORPHA:64754
Brachymorphism-Onychodysplasia-Dysphalangism Syndrome
Intrauterine growth retardation, Short stature, Brachycephaly, Abnormal mitral valve morphology, ... ORPHA:1292
Osteogenesis Imperfecta, Type Iii
Biconcave vertebral bodies, Decreased calvarial ossification, Thin ribs, Multiple prenatal fractu... OMIM:259420
Carey-Fineman-Ziter Syndrome
Plagiocephaly, Abnormal cardiac septum morphology, Growth delay OMIM:254940
German Syndrome
Short stature, Brachycephaly, Tetralogy of Fallot, Abnormal cardiac septum morphology, Midface re... ORPHA:2077
Bardet-Biedl Syndrome 8
Situs inversus totalis, Brachycephaly OMIM:615985
Intellectual Developmental Disorder, Autosomal Recessive 39
Kyphoscoliosis, Macrotia, Anteverted ears, Stereotypy OMIM:615541
Bresek Syndrome
Plagiocephaly, Intrauterine growth retardation, Growth delay ORPHA:85284
Penoscrotal Transposition
Hypospadias, Abnormality of the ureter, Renal agenesis, Patellar aplasia, Pectus carinatum, Renal... ORPHA:2842
Thrombocytopenia-Absent Radius Syndrome
Aplasia/Hypoplasia of the patella, Genu varum, Fused cervical vertebrae, Hip dislocation, Cervica... ORPHA:3320
Microcephaly, Facial Dysmorphism, Renal Agenesis, And Ambiguous Genitalia Syndrome
Ventricular septal defect, Intrauterine growth retardation, Brachycephaly, Patent ductus arterios... OMIM:618142
Rhizomelic Dysplasia, Scoliosis, And Retinitis Pigmentosa
Biconcave vertebral bodies, Short clavicles, Short ribs, Broad ribs, Short neck, Scoliosis OMIM:610319
Auricular Abnormalities-Cleft Lip With Or Without Cleft Palate-Ocular Abnormalities Syndrome
Plagiocephaly ORPHA:77300
Multiple Epiphyseal Dysplasia Type 5
Abnormal acetabulum morphology, Genu varum, Abnormal hip joint morphology, Delayed proximal femor... ORPHA:93311
Craniosynostosis, Herrmann-Opitz Type
Intrauterine growth retardation, Short stature, Brachycephaly, Craniosynostosis, Turricephaly ORPHA:2145
Baller-Gerold Syndrome
Cleft palate, Aplasia/Hypoplasia of the thumb, Hypoplasia of the radius, Short humerus, Aphalangy... OMIM:218600
Osteogenesis Imperfecta, Type Xx
Plagiocephaly, Intrauterine growth retardation, Brachycephaly, Disproportionate short-limb short ... OMIM:618644
Severe Neurodevelopmental Disorder With Feeding Difficulties-Stereotypic Hand Movement-Bilateral Cataract
Stereotypical hand wringing, Scoliosis, Spasticity ORPHA:500545
Intellectual Disability-Polydactyly-Uncombable Hair Syndrome
Conductive hearing impairment, Aplasia/Hypoplasia of fingers, Broad hallux phalanx, Toe syndactyl... ORPHA:3082
Muenke Syndrome
Plagiocephaly, Coronal craniosynostosis, Brachycephaly ORPHA:53271
Neurodevelopmental Disorder With Microcephaly, Hypotonia, And Variable Brain Anomalies
Plagiocephaly OMIM:617481
Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome
Plagiocephaly, Bicuspid aortic valve, Ventricular septal defect, Abnormal heart morphology, Front... ORPHA:457279
Peroxisomal Acyl-Coa Oxidase Deficiency
Frontal bossing, Brachycephaly OMIM:264470
Spondyloepimetaphyseal Dysplasia, Missouri Type
Genu varum, Pear-shaped vertebrae, Flared, irregular rib ends, Platyspondyly, Limited elbow exten... OMIM:602111
Neurodevelopmental Disorder With Or Without Autistic Features And/Or Structural Brain Abnormalities
Hypoplasia of the corpus callosum, Cerebral cortical atrophy, Brachycephaly OMIM:618859
Dyggve-Melchior-Clausen Disease
Abnormality of the vertebral column, Pectus carinatum, Beaking of vertebral bodies, Hypoplastic a... ORPHA:239
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia
Thin ribs, Decreased skull ossification, Platyspondyly, 11 pairs of ribs OMIM:300863
Osteopathia Striata-Cranial Sclerosis Syndrome
Flat occiput, Thickened calvaria, Large fontanelles, Brachycephaly, Severe short stature, Frontal... ORPHA:2780
Urban-Rogers-Meyer Syndrome
Toe syndactyly, Abnormality of the ureter, Flexion contracture of toe, Overfolded helix, Kyphosis... ORPHA:3409
Chromosome 3Pter-P25 Deletion Syndrome
Flat occiput, Short stature, Brachycephaly, Trigonocephaly, Atrioventricular canal defect, Postna... OMIM:613792
Intellectual Developmental Disorder, X-Linked 1
Secondary microcephaly, Brachycephaly OMIM:309530
Hurler-Scheie Syndrome
Spinal canal stenosis, Limitation of joint mobility, Abnormal vertebral morphology ORPHA:93476
Intellectual Developmental Disorder, Autosomal Recessive 38
Plagiocephaly OMIM:615516
Holoprosencephaly-Craniosynostosis Syndrome
Plagiocephaly, Craniosynostosis, Short stature, Brachycephaly ORPHA:2163
Osteogenesis Imperfecta, Type Xii
Brachyturricephaly, Wormian bones, Short stature, Midface retrusion OMIM:613849
Koolen-De Vries Syndrome
Pectus excavatum, Vertebral fusion, Kyphosis, Hip dislocation, Vertebral segmentation defect, Sco... ORPHA:96169
Spondylometaphyseal Dysplasia With Cone-Rod Dystrophy
Platyspondyly, Ovoid vertebral bodies, Cupped ribs, Severe platyspondyly, Joint stiffness, Scoliosis OMIM:608940
Pseudoachondroplasia
Limited hip extension, Genu varum, Beaking of vertebral bodies, Osteoarthritis, Irregular carpal ... OMIM:177170
Spondyloepimetaphyseal Dysplasia, Shohat Type
Thoracic hypoplasia, Genu varum, Generalized bone demineralization, Abnormal vertebral morphology... ORPHA:93352
Achondrogenesis, Type Ia
Short clavicles, Hypoplastic scapulae, Abnormal hand bone ossification, Unossified vertebral bodi... OMIM:200600
Geroderma Osteodysplastica
Biconcave vertebral bodies, Pectus carinatum, Beaking of vertebral bodies, Abnormal form of the v... ORPHA:2078
Achondrogenesis Type 1B
Short thorax, Narrow chest, Abnormal rib morphology, Short neck, Abnormal enchondral ossification ORPHA:93298
Potocki-Shaffer Syndrome
Delayed puberty, Brachycephaly, Parietal foramina ORPHA:52022
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Brain Atrophy
Tremor, Ataxia, Stereotypy OMIM:617862
Developmental Delay With Variable Intellectual Impairment And Behavioral Abnormalities
Plagiocephaly, Midface retrusion, Frontal bossing, Brachycephaly OMIM:618430
Fibrochondrogenesis
Hypoplastic scapulae, Abnormal form of the vertebral bodies, Short ribs, Narrow chest, Abnormal r... ORPHA:2021
Spondyloepimetaphyseal Dysplasia Congenita, Strudwick Type
Cervical instability, Laryngotracheomalacia, Abnormal vertebral morphology, Restricted large join... ORPHA:93346
Wolf-Hirschhorn Syndrome
Hypospadias, Aplasia of the uterus, Cleft palate, Talipes equinovarus, Abnormal form of the verte... OMIM:194190
Pontocerebellar Hypoplasia, Type 3
Short stature, Brachycephaly, Progressive microcephaly, Cerebral atrophy, Hypoplasia of the corpu... OMIM:608027
Osteogenesis Imperfecta, Type Xi
Biconcave vertebral bodies, Vertebral wedging, Kyphoscoliosis, Increased susceptibility to fractu... OMIM:610968
Autism Spectrum Disorder Due To Auts2 Deficiency
Cerebral palsy, Kyphosis, Stereotypy, Repetitive compulsive behavior, Hypertonia, Spasticity, Low... ORPHA:352490
Infantile-Onset X-Linked Spinal Muscular Atrophy
Interphalangeal joint contracture of finger, Ankle flexion contracture, Hip contracture, Kyphosco... ORPHA:1145
Mucopolysaccharidosis, Type Iiia
Ovoid thoracolumbar vertebrae, Thickened ribs, Dense calvaria, Joint stiffness OMIM:252900
Mucopolysaccharidosis, Type Iva
Cervical subluxation, Osteoporosis, Platyspondyly, Large elbow, Ovoid vertebral bodies, Kyphosis,... OMIM:253000
8Q12 Microduplication Syndrome
Ventricular septal defect, Atrial septal defect, Brachycephaly ORPHA:228399
Atypical Rett Syndrome
Involuntary movements, Limb myoclonus, Functional abnormality of the gastrointestinal tract, Tong... ORPHA:3095
Congenital Lactic Acidosis, Saguenay-Lac-Saint-Jean Type
Hypertrophic cardiomyopathy, Brachycephaly, Abnormal heart morphology, Focal T2 hyperintense basa... ORPHA:70472
Intellectual Developmental Disorder, Autosomal Dominant 50, With Behavioral Abnormalities
Stereotypy OMIM:617787
Craniodiaphyseal Dysplasia
Conductive hearing impairment, Abnormal rib morphology, Diaphyseal thickening, Stenosis of the ex... ORPHA:1513
Phaver Syndrome
Butterfly vertebrae, Abnormal form of the vertebral bodies, Abnormal rib morphology, Camptodactyl... ORPHA:2876
Hyperprolinemia, Type I
Prolinuria, Hydroxyprolinuria, Stereotypy, Ataxia, Hyperglycinuria OMIM:239500
Atelosteogenesis, Type I
Long clavicles, Knee dislocation, Thoracic hypoplasia, Coronal cleft vertebrae, Vertebral hypopla... OMIM:108720
10Q22.3Q23.3 Microduplication Syndrome
Hypospadias, Chronic otitis media, Abnormal clavicle morphology, Ambiguous genitalia, Abnormal ri... ORPHA:276422
Non-Syndromic Anorectal Malformation
Hypospadias, Hydrocolpos, Ectopic anus, Hemivertebrae, Rectovaginal fistula, Hemisacrum, Anal atr... ORPHA:557
Holt-Oram Syndrome
Pectus excavatum, Abnormal clavicle morphology, Kyphosis, Sprengel anomaly, Down-sloping shoulder... ORPHA:392
Grant Syndrome
Short stature, Large fontanelles, Brachycephaly, Wormian bones, Frontal bossing ORPHA:2097
Cooper-Jabs Syndrome
Ventricular septal defect, Short stature, Brachycephaly, Frontal bossing, Umbilical hernia ORPHA:1488
Myopathy, Congenital, Bailey-Bloch
Midface retrusion, Short stature, Microcephaly, Brachycephaly OMIM:255995
Hyperphosphatasia With Mental Retardation Syndrome 1
Athetosis, Aganglionic megacolon, Cleft palate, Tapered finger, Posteriorly rotated ears, Hearing... OMIM:239300
Warburg Micro Syndrome 3
Brachycephaly, Microcephaly, Postnatal growth retardation, Polymicrogyria, Secondary microcephaly... OMIM:614222
Intellectual Disability-Hypotonia-Brachycephaly-Pyloric Stenosis-Cryptorchidism Syndrome
Frontal bossing, Craniosynostosis, Short stature, Brachycephaly ORPHA:314575
Mental Retardation, Autosomal Dominant 26
Short stature, Microcephaly, Brachycephaly OMIM:615834
48,Xxyy Syndrome
Cleft palate, Radioulnar synostosis, Azoospermia, Chronic otitis media, Decreased testicular size... ORPHA:10
Cole-Carpenter Syndrome
Abnormal form of the vertebral bodies, Wormian bones, Kyphosis, Abnormal rib morphology, Recurren... ORPHA:2050
Hyperphosphatasia With Mental Retardation Syndrome 2
Plagiocephaly, Growth delay, Left unicoronal synostosis, Anterior plagiocephaly, Atrial septal de... OMIM:614749
Caudal Duplication
Ureteral duplication, Abnormal penis morphology, Abnormal sacrum morphology, Uterus didelphys, Re... ORPHA:1756
Intellectual Disability-Obesity-Brain Malformations-Facial Dysmorphism Syndrome
Multifocal cerebral white matter abnormalities, Brachycephaly, Microcephaly, Hypoplasia of the co... ORPHA:352530
Mental Retardation, Autosomal Dominant 36
Plagiocephaly, Prominent metopic ridge OMIM:616362
Postaxial Acrofacial Dysostosis
Pyloric stenosis, Midgut malrotation, Pectus excavatum, Cleft palate, Conductive hearing impairme... OMIM:263750
Short-Rib Thoracic Dysplasia 11 With Or Without Polydactyly
Horizontal ribs, Lateral clavicle hook, Nephrocalcinosis, Postaxial polydactyly, Narrow chest, Be... OMIM:615633
Prune Belly Syndrome
Urethral valve, Hydronephrosis, Pectus excavatum, Pectus carinatum, Congenital posterior urethral... OMIM:100100
Smith-Magenis syndrome
Brachydactyly, Stereotypy DECIPHER:8
Mucopolysaccharidosis, Type Ivb
Cervical subluxation, Osteoporosis, Platyspondyly, Prominent sternum, Ovoid vertebral bodies, Kyp... OMIM:253010
Autosomal Dominant Intellectual Disability-Craniofacial Anomalies-Cardiac Defects Syndrome
Plagiocephaly, Ventricular septal defect, Growth delay, Short stature, Craniosynostosis, Atrial s... ORPHA:457193
Asperger Syndrome, X-Linked, Susceptibility To, 2
Stereotypy OMIM:300497
Asperger Syndrome, X-Linked, Susceptibility To, 1
Stereotypy OMIM:300494
Asperger Syndrome, Susceptibility To, 1
Stereotypy OMIM:608638
Asperger Syndrome, Susceptibility To, 2
Stereotypy OMIM:608631
Diphallia
Hypospadias, Bifid scrotum, Abnormal spermatogenesis, Penoscrotal transposition, Renal malrotatio... ORPHA:227
Foxg1 Syndrome
Choreoathetosis, Kyphoscoliosis, Myoclonus, Stereotypy, Hyperkinetic movements, Stereotypical han... ORPHA:561854
Even-Plus Syndrome
Dysplastic corpus callosum, Brachycephaly, Severe short stature, Atrial septal defect, Midface re... OMIM:616854
Pseudodiastrophic Dysplasia
Brachycephaly, Rhizomelia, Severe short stature, Frontal bossing, Midface retrusion OMIM:264180
Ehlers-Danlos Syndrome, Musculocontractural Type, 2
Mitral valve prolapse, Brachycephaly, Frontal bossing, Cerebral atrophy, Midface retrusion, Paten... OMIM:615539
Acrorenal-Mandibular Syndrome
Uterus didelphys, Hypoplasia of the radius, Foot polydactyly, Hand polydactyly, Low-set ears, Rud... OMIM:200980
Zttk Syndrome
Horseshoe kidney, High palate, Hemivertebrae, Small hand, Bifid uvula, Kyphosis, Unilateral renal... OMIM:617140
Radiohumeral Fusions With Other Skeletal And Craniofacial Anomalies
Craniosynostosis, Brachycephaly OMIM:614416
Spondyloepiphyseal Dysplasia, Nishimura Type
Brachycephaly, Anterior plagiocephaly, Abnormality of cranial sutures, Frontal bossing, Wide ante... ORPHA:163649
Metaphyseal Chondrodysplasia, Schmid Type
Osteosclerosis of ribs, Genu varum, Metaphyseal irregularity, Femoral bowing, Proximal femoral me... ORPHA:174
Malan Overgrowth Syndrome
Plagiocephaly, Scaphocephaly, Frontal bossing ORPHA:420179
Pierpont Syndrome
Midface retrusion, Short stature, Microcephaly, Brachycephaly OMIM:602342
Intellectual Developmental Disorder, X-Linked 72
Stereotypy OMIM:300271
Hypotonia-Speech Impairment-Severe Cognitive Delay Syndrome
Plagiocephaly, Short stature, Intrauterine growth retardation, Frontal bossing ORPHA:371364
Cortical Dysplasia, Complex, With Other Brain Malformations 2
Small hand, Spastic tetraplegia, Stereotypy, Short foot, Hypertonia OMIM:615282
Vacterl Association, X-Linked, With Or Without Hydrocephalus
Abnormality of the vertebral column, Hydronephrosis, Abnormal vertebral morphology, Urethral atre... OMIM:314390
Intellectual Developmental Disorder With Autism And Speech Delay
Stereotypy OMIM:606053
Autism
Stereotypy OMIM:209850
Autism, Susceptibility To, X-Linked 3
Stereotypy OMIM:300496
Autism, Susceptibility To, 8
Stereotypy OMIM:607373
Autism, Susceptibility To, X-Linked 1
Stereotypy OMIM:300425
Chromosome 15Q11-Q13 Duplication Syndrome
Stereotypy OMIM:608636
Achondrogenesis, Type Ii
Horizontal ribs, Barrel-shaped chest, Short ribs, Absent vertebral body mineralization OMIM:200610
4Q21 Microdeletion Syndrome
Toe syndactyly, Small hand, Hearing impairment, Kyphosis, Stereotypy, Tremor, Short foot, Short p... ORPHA:238750
Crouzon Disease
Brachycephaly, Frontal bossing, Hydrocephalus, Turricephaly, Midface retrusion, Multiple suture c... ORPHA:207
Renal Caliceal Diverticuli-Deafness Syndrome
Hydronephrosis, Abnormality of the urinary system, Sensorineural hearing impairment, Abnormality ... ORPHA:2838
Carpenter Syndrome 1
Ventricular septal defect, Short stature, Brachycephaly, Patent ductus arteriosus, Pulmonic steno... OMIM:201000
Primary Dystonia, Dyt13 Type
Postural tremor, Involuntary movements, Torticollis, Stereotypy, Action tremor ORPHA:98807
Achondrogenesis Type 1A
Multiple rib fractures, Short thorax, Short neck, Narrow chest, Recurrent fractures, Abnormal enc... ORPHA:93299
Faciocardiorenal Syndrome
Plagiocephaly, Endocardial fibroelastosis, Tricuspid valve prolapse ORPHA:1973
Developmental And Epileptic Encephalopathy 58
Spastic diplegia, Stereotypy OMIM:617830
Anauxetic Dysplasia 3
Plagiocephaly, Midface retrusion, Wide anterior fontanel, Severe short stature OMIM:618853
Dubowitz Syndrome
Hypospadias, Rectal prolapse, Aplasia/Hypoplasia of the thumb, Abnormality of thumb phalanx, Hear... ORPHA:235
Cataract-Intellectual Disability-Hypogonadism Syndrome
Short stature, Brachycephaly, Microcephaly, Midface retrusion, Cerebral cortical atrophy ORPHA:1387
3M Syndrome
Horizontal ribs, Thin ribs, Abnormality of the elbow, Short thorax, Congenital hip dislocation, K... ORPHA:2616
Osteogenesis Imperfecta, Type X
Thin ribs, Generalized joint laxity, Platyspondyly, Osteopenia, Genu valgum, Vertebral compressio... OMIM:613848
Renpenning Syndrome
Hypospadias, High, narrow palate, Pectus excavatum, Cleft palate, Round ear, Macrotia, Anal atres... ORPHA:3242
9P13 Microdeletion Syndrome
Metopic synostosis, Umbilical hernia, Short stature, Brachycephaly ORPHA:324313
Acrocapitofemoral Dysplasia
Genu varum, Short middle phalanx of finger, Dysplasia of the femoral head, Cone-shaped epiphysis ... OMIM:607778
Microbrachycephaly-Ptosis-Cleft Lip Syndrome
Flat occiput, Large fontanelles, Brachycephaly, Severe short stature, Delayed cranial suture clos... ORPHA:2511
Alkuraya-Kucinskas Syndrome
Plagiocephaly, Pericardial effusion OMIM:617822
Intellectual Developmental Disorder, Autosomal Recessive 58
Stereotypy, Spastic diplegia, Choreoathetosis OMIM:617270
Osteogenesis Imperfecta, Type Xvii
Vertebral compression fracture, Osteoporosis, Scoliosis, Platyspondyly OMIM:616507
Spondyloepimetaphyseal Dysplasia, X-Linked, With Hypomyelinating Leukodystrophy
Anterior rib cupping, Thin ribs, Platyspondyly, Wormian bones, Prominent sternum, Thoracic kyphos... OMIM:300232
Aica-Ribosuria Due To Atic Deficiency
Frontal bossing, Atrial septal defect, Brachycephaly OMIM:608688
Mental Retardation, Autosomal Dominant 29
Brachycephaly OMIM:616078
Melnick-Needles Syndrome
Short clavicles, Short thorax, Hip dislocation, Anisospondyly, Narrow chest, Abnormal rib morphol... ORPHA:2484
X-Linked Intellectual Disability, Sutherland-Haan Type
Short stature, Microcephaly, Brachycephaly ORPHA:93950
Trisomy 20P
Hypospadias, Abnormal form of the vertebral bodies, Abnormal localization of kidney, Finger synda... ORPHA:261318
Craniofacial Dysplasia-Short Stature-Ectodermal Anomalies-Intellectual Disability Syndrome
Short stature, Brachycephaly, Trigonocephaly, Scaphocephaly, Atrial septal defect, Hydrocephalus,... ORPHA:459061
Richieri-Costa/Guion-Almeida Syndrome
Spina bifida occulta, Short stature, Microcephaly, Brachycephaly OMIM:268850
Neurodevelopmental Disorder With Hypotonia, Facial Dysmorphism, And Brain Abnormalities
Plagiocephaly, Flat occiput, Hypertrophic cardiomyopathy, Atrial septal defect, Delayed cranial s... OMIM:619383
Pierpont Syndrome
Abnormal cortical gyration, Primary microcephaly, Brachycephaly ORPHA:487825
Gomez-Lopez-Hernandez Syndrome
Short stature, Brachycephaly, Craniosynostosis, Skull asymmetry, Wormian bones, Wide anterior fon... OMIM:601853
Intellectual Developmental Disorder, Autosomal Dominant 64
Plagiocephaly, Prominent metopic ridge, Growth delay OMIM:619188
Dyggve-Melchior-Clausen Disease
Genu varum, Shield chest, Camptodactyly, Flat acetabular roof, Carpal bone hypoplasia, Multicentr... OMIM:223800
Fraxe Intellectual Disability
Clumsiness, Prominent ear helix, Stereotypical body rocking, Clinodactyly of the 5th finger, Recu... ORPHA:100973
Cole-Carpenter Syndrome 2
Pectus excavatum, Thin ribs, Wormian bones, Platyspondyly, Osteopenia, Kyphosis, Coronal craniosy... OMIM:616294
Oeis Complex
Talipes equinovarus, Ambiguous genitalia, female, Absence of the sacrum, Ambiguous genitalia, mal... OMIM:258040
Noonan Syndrome 13
Plagiocephaly, Prominent metopic ridge, Atrial septal defect, Mitral valve prolapse OMIM:619087
Otopalatodigital Syndrome Type 2
Tarsal synostosis, Abnormal vertebral segmentation and fusion, Synostosis of carpal bones, Carpal... ORPHA:90652
Developmental And Epileptic Encephalopathy 97
Tremor, Stereotypical hand wringing OMIM:619561
Mucopolysaccharidosis, Type Iiib
Ovoid thoracolumbar vertebrae, Thickened ribs, Dense calvaria, Joint stiffness OMIM:252920
Mental Retardation With Language Impairment And With Or Without Autistic Features
Enuresis, Speech apraxia, Stereotypy OMIM:613670
Fg Syndrome Type 1
Plagiocephaly, Mitral valve prolapse, Short stature, Craniosynostosis, Widely patent fontanelles ... ORPHA:93932
Faciodigitogenital Syndrome, Autosomal Recessive
Pectus excavatum, Vertebral fusion, Hyperextensible hand joints, Down-sloping shoulders, Camptoda... OMIM:227330
Christianson Syndrome
Pectus excavatum, Dysphagia, Adducted thumb, Macrotia, Abnormal thorax morphology, Stereotypy, Tr... ORPHA:85278
Congenital Disorder Of Glycosylation, Type Il
Frontal bossing, Abnormal cardiac septum morphology, Pericardial effusion, Brachycephaly OMIM:608776
Osteogenesis Imperfecta, Type Viii
Thin ribs, Multiple prenatal fractures, Platyspondyly, Kyphosis, Wormian bones, Osteopenia, Verte... OMIM:610915
Holoprosencephaly, Recurrent Infections, And Monocytosis
Holoprosencephaly, Agenesis of corpus callosum, Microcephaly, Brachycephaly OMIM:610680
Blepharophimosis-Impaired Intellectual Development Syndrome
Plagiocephaly, Frontal bossing OMIM:619293
Cutis Laxa, Autosomal Recessive, Type Iiia
Intrauterine growth retardation, Large fontanelles, Brachycephaly, Wormian bones, Severe short st... OMIM:219150
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly
Cleft palate, Absent tibia, Hamartoma of tongue, Talipes equinovarus, Renal dysplasia, Short ribs... OMIM:613091
Chromosome 6Pter-P24 Deletion Syndrome
Ventricular septal defect, Agenesis of corpus callosum, Brachycephaly, Patent ductus arteriosus, ... OMIM:612582
Mucopolysaccharidosis Type 6
Genu valgum, Ovoid vertebral bodies, Kyphosis, Joint stiffness, Broad ribs, Short neck ORPHA:583
Al Kaissi Syndrome
Intrauterine growth retardation, Short stature, Brachycephaly, Atrial septal defect, Postnatal gr... OMIM:617694
Chromosome 2Q37 Deletion Syndrome
Subvalvular aortic stenosis, Midface retrusion, Short stature, Brachycephaly OMIM:600430
Cri-Du-Chat Syndrome
Hypospadias, Metatarsus adductus, High palate, Short metatarsal, Abnormality of the pinna, Bifid ... OMIM:123450
Geroderma Osteodysplasticum
Biconcave vertebral bodies, Irregular vertebral endplates, Beaking of vertebral bodies, Kyphoscol... OMIM:231070
Crouzon Syndrome-Acanthosis Nigricans Syndrome
Frontal bossing, Hydrocephalus, Turricephaly, Brachycephaly ORPHA:93262
Robinow-Sorauf Syndrome
Plagiocephaly OMIM:180750
Peutz-Jeghers Syndrome
Abnormality of the ureter, Rectal prolapse, Gastrointestinal carcinoma, Ovarian cyst, Bladder pol... OMIM:175200
Mosaic Trisomy 8
Hydronephrosis, Cleft palate, High palate, Protruding ear, Patellar aplasia, Abnormality of the p... ORPHA:96061
22Q11.2 Duplication Syndrome
Hydronephrosis, Cleft palate, Urethral stenosis, Hearing impairment, Displacement of the urethral... ORPHA:1727
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome
Plagiocephaly, Bicuspid aortic valve, Ventricular septal defect, Intrauterine growth retardation,... ORPHA:453499
Brachytelephalangic Chondrodysplasia Punctata
Abnormality of the vertebral column, C1-C2 subluxation, Spinal canal stenosis, Butterfly vertebra... ORPHA:79345
17Q12 Microduplication Syndrome
Abnormal vertebral morphology ORPHA:261272
Intellectual Developmental Disorder, X-Linked, Syndromic, Snijders Blok Type
Dysplastic pulmonary valve, Hypoplasia of the corpus callosum, Microcephaly, Brachycephaly OMIM:300958
Fanconi Anemia, Complementation Group I
Short neck, Fused cervical vertebrae OMIM:609053
Syngap1-Related Developmental And Epileptic Encephalopathy
Hypospadias, High palate, Anteverted ears, Poor coordination, Postaxial polydactyly, Macrotia, Tr... ORPHA:544254
Snijders Blok-Campeau Syndrome
High, narrow palate, Speech apraxia, Stereotypy, Low-set ears, Scoliosis OMIM:618205
Arnold-Chiari Malformation Type I
Stiff neck, Cervical C2/C3 vertebral fusion, Fused cervical vertebrae, Anteriorly placed odontoid... ORPHA:268882
Mucopolysaccharidosis, Type Iiic
Ovoid thoracolumbar vertebrae, Thickened ribs, Kyphoscoliosis, Dense calvaria, Joint stiffness OMIM:252930
Alagille Syndrome
Abnormality of the ureter, Protruding ear, Nephrotic syndrome, Abnormal form of the vertebral bod... ORPHA:52
Mirror Polydactyly-Vertebral Segmentation-Limbs Defects Syndrome
Vertebral segmentation defect ORPHA:3004
Beta-Mercaptolactate Cysteine Disulfiduria
High palate, Abnormality of the ureter, Low-set, posteriorly rotated ears, Arachnodactyly, Hypopl... ORPHA:1035
Poland Syndrome
Hypospadias, Abnormality of the ulna, Aplasia/Hypoplasia of the thumb, Abnormal sternum morpholog... ORPHA:2911
Thymic-Renal-Anal-Lung Dysplasia
Ureteral agenesis, Renal agenesis, Ureteral dysgenesis, Anal atresia OMIM:274265
Cenani-Lenz Syndrome
Abnormal form of the vertebral bodies, Synostosis of carpal bones, Synostosis of joints, Hip disl... ORPHA:3258
Intellectual Disability-Strabismus Syndrome
Plagiocephaly, Atrial septal defect, Intrauterine growth retardation, Short stature ORPHA:363528
Squamous Cell Carcinoma Of The Anal Canal
Rectal prolapse, Neoplasm of the rectum, Anal canal squamous cell carcinoma, Neoplasm of the live... ORPHA:424019
Developmental And Epileptic Encephalopathy 6B
Choreoathetosis, Chorea, Myoclonus, Stereotypy, Ataxia, Hyperkinetic movements, Scoliosis OMIM:619317
Lethal Hemolytic Anemia-Genital Anomalies Syndrome
Hypospadias, Abnormality of the ureter, Sandal gap, Renal hypoplasia/aplasia, Hypoplasia of penis ORPHA:1046
Growth Delay-Hydrocephaly-Lung Hypoplasia Syndrome
Abnormally ossified vertebrae, Abnormal rib morphology ORPHA:3035
Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 1
Postnatal growth retardation, Microcephaly, Brachycephaly OMIM:615419
Williams-Beuren Region Duplication Syndrome
Short stature, Brachycephaly, Patent ductus arteriosus, Hydrocephalus, Decreased response to grow... OMIM:609757
Intellectual Developmental Disorder With Dysmorphic Facies, Seizures, And Distal Limb Anomalies
Flat occiput, Ventricular septal defect, Intrauterine growth retardation, Short stature, Brachyce... OMIM:617452
Kleefstra Syndrome Due To 9Q34 Microdeletion
Flat occiput, Conotruncal defect, Cerebral cortical hemiatrophy, Growth delay, Brachycephaly, Cer... ORPHA:96147
Acromelic Frontonasal Dysplasia
Meningocele, Hypoplasia of the olfactory bulb, Large fontanelles, Brachycephaly, Anterior pituita... ORPHA:1827
Craniosynostosis-Anal Anomalies-Porokeratosis Syndrome
Large posterior fontanelle, Plagiocephaly, Brachycephaly, Parietal foramina, Frontal bossing, Wid... ORPHA:85199
Early-Onset Seizures-Distal Limb Anomalies-Facial Dysmorphism-Global Developmental Delay Syndrome
Flat occiput, Ventricular septal defect, Intrauterine growth retardation, Short stature, Brachyce... ORPHA:505237
Hypertelorism-Hypospadias-Polysyndactyly Syndrome
Flat occiput, Abnormal cortical gyration, Large fontanelles, Brachycephaly, Pachygyria, Macrogyri... ORPHA:2211
Dysosteosclerosis
Increased intervertebral space, Irregular vertebral endplates, Delayed closure of the anterior fo... OMIM:224300
Cornelia De Lange Syndrome 3 With Or Without Midline Brain Defects
Plagiocephaly, Bicuspid aortic valve, Ventricular septal defect, Short stature, Delayed closure o... OMIM:610759
N-Acetylaspartate Deficiency
Truncal ataxia, Stereotypy OMIM:614063
Renal Hypoplasia
Urethral valve, Hydronephrosis, Abnormality of the ureter, Pelvic kidney, Glomerulomegaly, Abnorm... ORPHA:93101
Holzgreve Syndrome
Joint stiffness, Abnormally ossified vertebrae, Abnormal rib morphology ORPHA:2167
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type
Hypospadias, Thoracic hypoplasia, Hydronephrosis, Cleft palate, Adducted thumb, Decreased fibular... OMIM:616897
Thakker-Donnai Syndrome
Short neck, Cervical C2/C3 vertebral fusion, Hemivertebrae ORPHA:1780
Smith-Magenis Syndrome
Abnormal heart morphology, Midface retrusion, Short stature, Brachycephaly OMIM:182290
X-Linked Myotubular Myopathy-Abnormal Genitalia Syndrome
High palate, Bifid scrotum, Thin ribs, Penoscrotal hypospadias, Micropenis, Blind vagina, Cryptor... ORPHA:456328
Pallister-Hall Syndrome
Hypospadias, Cleft palate, Polydactyly affecting the 4th finger, Renal dysplasia, Microglossia, B... ORPHA:672
Intellectual Developmental Disorder With Paroxysmal Dyskinesia Or Seizures
Poor coordination, Paroxysmal dyskinesia, Chorea, Stereotypy, Ataxia OMIM:619150
Hand-Foot-Genital Syndrome
Hypospadias, Short hallux, Hallux varus, Clinodactyly of the 5th finger, Proximal placement of th... ORPHA:2438
Spastic Paraplegia, Intellectual Disability, Nystagmus, And Obesity
Plagiocephaly, Frontal bossing, Brachycephaly OMIM:617296
Microphthalmia, Lenz Type
Hypospadias, Long thorax, Hydronephrosis, Abnormal clavicle morphology, Low-set, posteriorly rota... ORPHA:568
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome
Hypospadias, Hemivertebrae, Abnormal vertebral morphology, Esophageal atresia, Hearing impairment... ORPHA:77298
3P25.3 Microdeletion Syndrome
Pyloric stenosis, High, narrow palate, Cleft palate, Postaxial polydactyly, Tapered finger, Conge... ORPHA:435638
Campomelia, Cumming Type
Abnormal intestine morphology, Cleft palate, Bowing of the long bones, Abnormal thorax morphology... ORPHA:1318
Laurence-Moon Syndrome
Short stature, Brachycephaly ORPHA:2377
Chopra-Amiel-Gordon Syndrome
Short stature, Brachycephaly, Postnatal growth retardation, Midface retrusion, Microcephaly OMIM:619504
Fibrochondrogenesis 1
Thin clavicles, Long clavicles, Thoracic hypoplasia, Anterior rib cupping, Thin ribs, Posterior v... OMIM:228520
Intellectual Disability-Myopathy-Short Stature-Endocrine Defect Syndrome
Pectus carinatum, Hypogonadotropic hypogonadism, Abnormality of the pinna, Clinodactyly of the 5t... ORPHA:3068
Cdkl5-Deficiency Disorder
Hallux valgus, Broad proximal phalanges of the hand, Kyphosis, Stereotypical hand wringing, Scoli... ORPHA:505652
Noonan Syndrome With Multiple Lentigines
Hypertrophic cardiomyopathy, Abnormal endocardium morphology, Intrauterine growth retardation, Mi... ORPHA:500
Acro-Renal-Mandibular Syndrome
Aplasia/Hypoplasia of the tongue, Uterus didelphys, Hypoplasia of the radius, Finger syndactyly, ... ORPHA:958
Aymé-Gripp Syndrome
Plagiocephaly, Pericarditis, Pericardial effusion, Large fontanelles, Brachycephaly, Short statur... ORPHA:1272
Koolen-De Vries Syndrome
Pectus excavatum, Vertebral fusion, Kyphosis, Joint hypermobility, Spondylolisthesis, Sacral dimp... OMIM:610443
Ritscher-Schinzel Syndrome 4
Plagiocephaly, Short stature, Premature anterior fontanel closure, Brachycephaly OMIM:619435
Lethal Kniest-Like Dysplasia
Anterior rib cupping, Coronal cleft vertebrae, Platyspondyly, Short ribs, Narrow chest, Hypoplast... ORPHA:2347
Vacterl Association With Hydrocephalus
Abnormality of the vertebral column, Abnormal vertebral morphology OMIM:276950
46,Xx Disorder Of Sex Development-Anorectal Anomalies Syndrome
Hydronephrosis, Abnormal internal genitalia, Aplasia/Hypoplasia of the radius, Intestinal malrota... ORPHA:2973
Temtamy Preaxial Brachydactyly Syndrome