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Gene: Wbp11 MGI:1891823

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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:
WW domain binding protein 11
Synonyms:
Npwbp,  SIPP1,  2510026P17Rik,  D6Wsu113e

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 Wbp11 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 Wbp11 by orthology or direct annotation.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Vertebral, Cardiac, Tracheoesophageal, Renal, And Limb Defects
Wide nose, Short stature, Esophageal atresia, Fused cervical vertebrae, Butterfly vertebrae, Unil... OMIM:619227

The table below shows human diseases predicted to be associated to Wbp11 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 2
11 pairs of ribs, Rhizomelia, Short stature, Vertebral segmentation defect, Unilateral renal agen... OMIM:617661
Spondylocostal Dysostosis 1, Autosomal Recessive
Back pain, Vertebral fusion, Short stature, Block vertebrae, Vertebral segmentation defect, Dispr... OMIM:277300
Spondylocostal Dysostosis 2, Autosomal Recessive
Vertebral clefting, Vertebral segmentation defect, Disproportionate short-trunk short stature, Sh... OMIM:608681
Radioulnar Synostosis-Microcephaly-Scoliosis Syndrome
Abnormality of the philtrum, Abnormality of the elbow, Finger syndactyly, Short stature, Radiouln... ORPHA:3268
Microcephaly-Cervical Spine Fusion Anomalies Syndrome
Hyperlordosis, Convex nasal ridge, Kyphosis, Short stature, Fused cervical vertebrae, Abnormality... ORPHA:2522
Imperforate Oropharynx-Costovertebral Anomalies Syndrome
Abnormality of the philtrum, Polyhydramnios, Aplasia/Hypoplasia of the tongue, Wide nasal bridge,... ORPHA:2759
Isolated Klippel-Feil Syndrome
Ectopic anus, Spina bifida, Anal atresia, Abnormal sacrum morphology, Abnormal vertebral segmenta... ORPHA:2345
Verheij Syndrome
Vertebral fusion, Short 5th finger, Long philtrum, Wide nasal bridge, Short stature, Clinodactyly... OMIM:615583
Phosphoribosylaminoimidazole Carboxylase Deficiency
Polyhydramnios, Choanal stenosis, Short stature, Esophageal atresia, Bilateral cryptorchidism, Mi... OMIM:619859
Spondylocostal Dysostosis 5
Vertebral fusion, Low back pain, Supernumerary ribs, Missing ribs, Posterior rib fusion, Butterfl... OMIM:122600
Hydrocephalus-Costovertebral Dysplasia-Sprengel Anomaly Syndrome
High palate, Prominent nose, Wide nasal bridge, Bulbous nose, Sprengel anomaly, Depressed nasal b... ORPHA:2180
Acro-Renal-Mandibular Syndrome
Hip dislocation, Butterfly vertebrae, Pulmonary hypoplasia, Short neck, Rudimentary to absent tib... ORPHA:958
Dysostosis Multiplex, Ain-Naz Type
Hypoplastic iliac wing, Thin corpus callosum, Flat acetabular roof, Hip dislocation, Severe short... OMIM:619345
Klippel-Feil Syndrome 2, Autosomal Recessive
Cleft upper lip, Fused cervical vertebrae, Short neck, Scoliosis, Sprengel anomaly, Cleft palate,... OMIM:214300
Sprengel Deformity
Rib segmentation abnormalities, Spina bifida occulta, Cervical segmentation defect, Scoliosis, Sp... OMIM:184400
Mental Retardation, Skeletal Dysplasia, And Abducens Palsy
Wide nasal bridge, Short stature, Thoracic hemivertebrae, Fused cervical vertebrae, Anal atresia,... OMIM:309620
Autosomal Dominant Spondylocostal Dysostosis
Hyperlordosis, Short thorax, Wide nasal bridge, Vertebral segmentation defect, Missing ribs, Post... ORPHA:1797
X-Linked Skeletal Dysplasia-Intellectual Disability Syndrome
Short stature, Thoracic hemivertebrae, Fused cervical vertebrae, Anal atresia, Abnormal sacrum mo... ORPHA:1436
Bresek Syndrome
Vesicoureteral reflux, Convex nasal ridge, Decreased testicular size, Aganglionic megacolon, Post... ORPHA:85284
Ritscher-Schinzel Syndrome 1
Decreased response to growth hormone stimulation test, Missing ribs, Anal atresia, Syndactyly, Hy... OMIM:220210
Kniest Dysplasia
Dumbbell-shaped long bone, Keratan sulfate excretion in urine, Short neck, Delayed patellar ossif... ORPHA:485
Male Hypergonadotropic Hypogonadism-Intellectual Disability-Skeletal Anomalies Syndrome
Short stature, Decreased testicular size, Hypoplasia of penis, Short neck, Abnormal rib morpholog... ORPHA:2234
Spondylocostal Dysostosis 4, Autosomal Recessive
Bell-shaped thorax, Vertebral fusion, Short thorax, Myelomeningocele, Ectopic anus, Block vertebr... OMIM:613686
Distal Trisomy 18Q
Camptodactyly of finger, Arachnodactyly, High palate, Progressive intervertebral space narrowing,... ORPHA:1716
Cerebrofaciothoracic Dysplasia
Bifid ribs, Polyhydramnios, Cleft upper lip, Cerebral cortical atrophy, Wide nose, Wide mouth, Sh... ORPHA:1394
Vertebral, Cardiac, Tracheoesophageal, Renal, And Limb Defects
Wide nose, Short stature, Esophageal atresia, Fused cervical vertebrae, Butterfly vertebrae, Unil... OMIM:619227
Atelosteogenesis, Type I
Polyhydramnios, Thoracic hypoplasia, Vertebral hypoplasia, Distal tapering femur, Elbow dislocati... OMIM:108720
Klippel-Feil Syndrome 4, Autosomal Recessive, With Nemaline Myopathy And Facial Dysmorphism
Thoracolumbar scoliosis, Underdeveloped nasal alae, Flexion contracture, High palate, Long philtr... OMIM:616549
Braddock Syndrome
Preaxial hand polydactyly, Short stature, Missing ribs, Unilateral renal agenesis, Pectus excavat... ORPHA:52047
Contractures, Pterygia, And Spondylocarpotarsal Fusion Syndrome 1A
Elbow flexion contracture, Camptodactyly, Elbow contracture, Short neck, Cleft palate, Arthrogryp... OMIM:178110
Poland Syndrome
Unilateral oligodactyly, Short ribs, Unilateral brachydactyly, Syndactyly, Rib fusion, Sprengel a... OMIM:173800
Diaphanospondylodysostosis
Absent or minimally ossified vertebral bodies, Short thorax, Enlarged thorax, Myelomeningocele, M... ORPHA:66637
Osteoglosphonic Dysplasia
Abnormal bone ossification, Rhizomelia, Brachydactyly, Severe short stature, Abnormal clavicle mo... ORPHA:2645
3C Syndrome
Ectopic anus, Wide nasal bridge, Short neck, Cleft palate, Postnatal growth retardation, Orofacia... ORPHA:7
Frontometaphyseal Dysplasia 1
Camptodactyly of finger, Wrist flexion contracture, Coxa valga, Wide nasal bridge, Delayed erupti... OMIM:305620
Multiple Pterygium Syndrome, X-Linked
Increased susceptibility to fractures, Vertebral fusion, Flexion contracture, Joint dislocation, ... OMIM:312150
Multiple Pterygium Syndrome, Escobar Variant
Neck pterygia, Flexion contracture, Multiple joint contractures, Anterior clefting of vertebral b... OMIM:265000
Brachydactyly, Type B1
Delayed cranial suture closure, Hypoplastic sacrum, Vertebral fusion, Thoracolumbar scoliosis, Jo... OMIM:113000
Cornelia De Lange Syndrome 4 With Or Without Midline Brain Defects
Vertebral clefting, 2-3 toe syndactyly, Wide nasal bridge, Smooth philtrum, Cleft palate, Short n... OMIM:614701
Klippel-Feil Syndrome 1, Autosomal Dominant
Unilateral renal agenesis, Abnormal vertebral segmentation and fusion, Sprengel anomaly, Short ne... OMIM:118100
Cenani-Lenz Syndactyly Syndrome
Enamel hypoplasia, Hypoplasia of the radius, Hypodontia, Radioulnar synostosis, Pectus excavatum,... OMIM:212780
Trigonocephaly 1
Long philtrum, Wide nasal bridge, High, narrow palate, Long penis, Short nose, Meckel diverticulu... OMIM:190440
Mosaic Trisomy 9
Camptodactyly of finger, Asplenia, Polyhydramnios, Hip dislocation, Elbow dislocation, Short neck... ORPHA:99776
Spondylometaphyseal Dysplasia, Corner Fracture Type
Genu varum, Metaphyseal irregularity, Coxa vara, Short femoral neck, Short stature, Hypoplasia of... OMIM:184255
Pallister-Hall Syndrome
Short 4th metacarpal, Toe syndactyly, Hip dislocation, Postaxial hand polydactyly, Cleft palate, ... OMIM:146510
Intellectual Disability-Facial Dysmorphism-Hand Anomalies Syndrome
Short toe, Bifid distal phalanx of the thumb, Curved distal phalanx of the thumb, Triangular shap... ORPHA:370010
Spondylocostal Dysostosis With Anal Atresia And Urogenital Anomalies
Hydronephrosis, Vertebral fusion, Supernumerary vertebrae, Urethral atresia, Block vertebrae, Sho... OMIM:271520
Congenital Absence Of Upper Arm And Forearm With Hand Present
Polydactyly, Abnormal thorax morphology, Upper limb phocomelia, Syndactyly, Stillbirth, Abnormal ... ORPHA:294975
Metatropic Dysplasia
Camptodactyly of finger, Abnormal enchondral ossification, Kyphosis, Abnormal metaphysis morpholo... ORPHA:2635
Vitamin K Antagonist Embryofetopathy
Myelomeningocele, Epiphyseal stippling, Macroglossia, Short nose, Depressed nasal bridge, Short n... ORPHA:1914
Lenz-Majewski Hyperostotic Dwarfism
Delayed cranial suture closure, Cerebral cortical atrophy, Humeroradial synostosis, Elbow flexion... OMIM:151050
Al Kaissi Syndrome
Sacral dimple, Long philtrum, Small hand, Wide nasal bridge, Short stature, Clinodactyly, Thin up... OMIM:617694
Acromesomelic Dysplasia, Maroteaux Type
Hyperlordosis, Kyphosis, Vertebral wedging, Disproportionate short stature, Depressed nasal bridg... ORPHA:40
Lamb-Shaffer Syndrome
Thoracic kyphosis, Fused cervical vertebrae, Hip dysplasia, Mild postnatal growth retardation, Br... ORPHA:530983
Spondylocostal Dysostosis 6, Autosomal Recessive
Cervical kyphosis, Butterfly vertebrae, Spinal canal stenosis, Scoliosis, Hemivertebrae OMIM:616566
Becker Nevus Syndrome
Unilateral breast hypoplasia, Pectus excavatum, Cervical ribs, Scoliosis, Hemivertebrae OMIM:604919
Osteomyelitis, Sterile Multifocal, With Periostitis And Pustulosis
Osteomyelitis, Fused cervical vertebrae, Neutrophilia, Fetal distress, Stomatitis, Osteolysis, Os... OMIM:612852
Klippel-Feil Syndrome 3, Autosomal Dominant
Cervical C3/C4 vertebral fusion, Cervical C5/C6 vertebrae fusion, Thoracic scoliosis OMIM:613702
Asymmetric Short Stature Syndrome
Convex nasal ridge, Lumbar scoliosis, Fused cervical vertebrae, Asymmetric short stature, Dental ... OMIM:108450
Multiple Pterygium Syndrome, Lethal Type
Increased susceptibility to fractures, Vertebral fusion, Flexion contracture, Joint dislocation, ... OMIM:253290
Metatropic Dysplasia
Flexion contracture, Flared iliac wing, Long coccyx, Delayed skeletal maturation, Enlarged joints... OMIM:156530
Kbg Syndrome
Cervical ribs, Short neck, Delayed skeletal maturation, Cleft palate, Cutaneous syndactyly, Verte... ORPHA:2332
Oculogastrointestinal Neurodevelopmental Syndrome
Sacral dimple, Short stature, Anal atresia, Horseshoe kidney, Microcephaly, Low hanging columella... OMIM:619318
Thrombocytopenia-Absent Radius Syndrome
Coxa valga, Patellar dislocation, Hip dislocation, Cervical ribs, Phocomelia, Cleft palate, Throm... ORPHA:3320
Intellectual Developmental Disorder, Autosomal Dominant 52
Convex nasal ridge, High palate, Lumbar scoliosis, Prominent nose, Prominent nasal bridge, Bilate... OMIM:617796
Contractures, Pterygia, And Spondylocarpotarsal Fusion Syndrome 1B
Absent phalangeal crease, Flexion contracture, Fused cervical vertebrae, Antecubital pterygium, S... OMIM:618469
Meier-Gorlin Syndrome 1
Flexion contracture, Coxa valga, Osteochondritis dissecans, Microdontia, Camptodactyly, Elbow dis... OMIM:224690
Femoral-Facial Syndrome
Long penis, Short femur, Abnormal rib morphology, Cleft palate, Orofacial cleft, Hip dysplasia, P... ORPHA:1988
Diamond-Blackfan Anemia 7
Triphalangeal thumb, Vesicoureteral reflux, Polyhydramnios, Short thumb, Esophagitis, Fetal distr... OMIM:612562
Juberg-Hayward Syndrome
Wide nose, Abnormality of the elbow, Abnormal finger morphology, Toe syndactyly, Hypoplasia of th... ORPHA:2319
Acrocraniofacial Dysostosis
Tapered finger, Coxa valga, Flared iliac wing, Pectus excavatum, Spina bifida occulta, Cleft pala... ORPHA:949
Autosomal Recessive Spondylocostal Dysostosis
Camptodactyly of finger, Meningocele, Spina bifida occulta, Abnormality of the ureter, Short neck... ORPHA:2311
Acrorenal-Mandibular Syndrome
Abnormal sacral segmentation, Toe syndactyly, Elbow flexion contracture, Hip dislocation, Butterf... OMIM:200980
Robinow Syndrome, Autosomal Recessive 1
Delayed cranial suture closure, Bifid tongue, Wide nasal bridge, Pectus excavatum, Dislocated rad... OMIM:268310
Ring Chromosome 21 Syndrome
Small hand, Short stature, Thoracic hemivertebrae, Abnormal thorax morphology, Clinodactyly, Synd... ORPHA:1445
Postaxial Polydactyly-Dental And Vertebral Anomalies Syndrome
Vertebral fusion, Patellar dislocation, Kyphosis, Short stature, Hypodontia, Macrodontia, Clinoda... ORPHA:2916
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome
11 pairs of ribs, Esophageal atresia, Hypoplasia of penis, Abnormal vertebral morphology, Tracheo... ORPHA:77298
Autoimmune Disease, Multisystem, With Facial Dysmorphism
Convex nasal ridge, Hallux valgus, Camptodactyly, Pectus excavatum, Delayed skeletal maturation, ... OMIM:613385
Diaphanospondylodysostosis
Thoracic hypoplasia, Narrow pelvis bone, Pulmonary hypoplasia, Short neck, Absent in utero rib os... OMIM:608022
Diastrophic Dysplasia
Camptodactyly of finger, Increased bone mineral density, Elbow dislocation, Hypoplastic cervical ... ORPHA:628
Craniofacial Dysmorphism, Skeletal Anomalies, And Impaired Intellectual Development Syndrome 1
Polyhydramnios, Wide nasal bridge, Recurrent sinusitis, Supernumerary nipple, Pectus excavatum, O... OMIM:213980
Heart Defects-Limb Shortening Syndrome
Mesomelic/rhizomelic limb shortening, Kyphosis, Narrow chest, Accelerated skeletal maturation, Ab... ORPHA:1354
Spondylometaphyseal Dysplasia, Type A4
Osteoporotic tarsals, Sclerotic humeral metaphysis, Coxa valga, Irregular capital femoral epiphys... OMIM:609052
Basal Cell Nevus Syndrome 1
Polydactyly, Short 4th metacarpal, Wide nasal bridge, Short distal phalanx of the thumb, Ovarian ... OMIM:109400
Gorlin Syndrome
Vertebral fusion, Arachnodactyly, Wide nasal bridge, Vertebral wedging, Abnormality of the sense ... ORPHA:377
Gapo Syndrome
Delayed eruption of teeth, Abnormal thorax morphology, Everted lower lip vermilion, Delayed skele... ORPHA:2067
Anophthalmia Plus Syndrome
Non-midline cleft lip, Deviation of finger, Spina bifida, Vertebral segmentation defect, Abnormal... ORPHA:1104
Postaxial Acrofacial Dysostosis
Conical tooth, Midgut malrotation, Supernumerary vertebrae, Cleft upper lip, Hypoplasia of the ra... OMIM:263750
Mosaic Trisomy 14
Camptodactyly of finger, High palate, Ectopic anus, Wide mouth, Wide nasal bridge, Hypoplasia of ... ORPHA:1703
Axial Mesodermal Dysplasia Spectrum
Cerebral cortical atrophy, Abnormality of the ureter, Short neck, Abnormal intestine morphology, ... ORPHA:1834
Intellectual Developmental Disorder, Autosomal Dominant 1
Hypoplasia of the frontal lobes, Microdontia, Everted lower lip vermilion, Short palm, Postnatal ... OMIM:156200
Spinal Dysplasia, Anhalt Type
Thoracolumbar scoliosis, Narrow anterio-posterior vertebral body diameter, Coxa vara, Short statu... OMIM:601344
X-Linked Intellectual Disability, Snyder Type
Cerebral edema, Camptodactyly, Pectus excavatum, Everted lower lip vermilion, Megalencephaly, Smo... ORPHA:3063
Mesomelic Dwarfism-Cleft Palate-Camptodactyly Syndrome
Camptodactyly of finger, Abnormal metaphysis morphology, Vertebral segmentation defect, Abnormal ... ORPHA:2631
Apert Syndrome
Delayed cranial suture closure, Humeroradial synostosis, Delayed eruption of teeth, Ectopic anus,... OMIM:101200
Microform Holoprosencephaly
Short stature, Maternal diabetes, Hypoplasia of penis, Panhypopituitarism, Short philtrum, Choana... ORPHA:280200
Amastia, Bilateral, With Ureteral Triplication And Dysmorphism
High palate, Wide nasal bridge, Absent nipple, Pectus excavatum, Congenital hip dislocation, Uret... OMIM:104350
Poland Syndrome
Spina bifida occulta, Short neck, Abnormal rib morphology, Absent hand, Reduced bone mineral dens... ORPHA:2911
Spondylocostal Dysostosis 3, Autosomal Recessive
Kyphosis, Short stature, Vertebral segmentation defect, Hypoplasia of the odontoid process, Contr... OMIM:609813
Fg Syndrome Type 1
Abnormal large intestine morphology, Small pituitary gland, Choanal atresia, Sacral dimple, Promi... ORPHA:93932
Atelosteogenesis, Type Ii
Thoracic hypoplasia, Pulmonary hypoplasia, Short neck, Cleft palate, Lumbar hyperlordosis, Abnorm... OMIM:256050
Ehlers-Danlos Syndrome, Classic-Like, 2
Shoulder dislocation, High palate, Generalized joint laxity, Hallux valgus, Facet joint arthrosis... OMIM:618000
Zttk Syndrome
Flexion contracture, Wide nasal bridge, Bifid uvula, Unilateral lung agenesis, Cervical ribs, Int... OMIM:617140
Cardioneuromyopathy With Hyaline Masses And Nemaline Rods
Cervical vertebral bodies with decreased anteroposterior diameter, Fusion of midcervical facet jo... OMIM:606842
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome
Wide nasal bridge, Pulmonary hypoplasia, Overlapping toe, Cleft vertebral arch, Hepatomegaly, Cle... ORPHA:83617
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14
Short tibia, Polyhydramnios, Flexion contracture, Thoracic hypoplasia, Spinal dysraphism, Coxa va... ORPHA:96334
Fanconi Anemia, Complementation Group I
Vesicoureteral reflux, Absent thumb, Decreased response to growth hormone stimulation test, Short... OMIM:609053
Thakker-Donnai Syndrome
Bulbous nose, Anal atresia, Tracheoesophageal fistula, Downturned corners of mouth, Short neck, N... ORPHA:1780
Burn-Mckeown Syndrome
Underdeveloped nasal alae, 2-3 toe syndactyly, Cleft upper lip, Bilateral choanal atresia/stenosi... OMIM:608572
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked
Tapered finger, Coxa valga, Radial deviation of finger, Postnatal growth retardation, Reduced alp... OMIM:301040
Duane-Radial Ray Syndrome
Shoulder dislocation, Absent thumb, Aplasia of metacarpal bones, Spina bifida occulta, Choanal at... OMIM:607323
Fibrodysplasia Ossificans Progressiva
Broad femoral neck, Ectopic ossification in ligament tissue, Small cervical vertebral bodies, Wid... OMIM:135100
Arthrogryposis, Distal, Type 1C
Camptodactyly of finger, Wrist flexion contracture, Elbow flexion contracture, Bifid uvula, Short... OMIM:619110
Chondrodysplasia Punctata 2, X-Linked Dominant
Polyhydramnios, Patellar dislocation, Rhizomelia, Abnormal thorax morphology, Postnatal growth re... OMIM:302960
Greenberg Dysplasia
Short phalanx of finger, Polyhydramnios, Absent or minimally ossified vertebral bodies, Thoracic ... OMIM:215140
Gordon Syndrome
Camptodactyly of finger, High palate, Finger syndactyly, Short stature, Clinodactyly of the 5th f... ORPHA:376
Raine Syndrome
Thoracic hypoplasia, Increased bone mineral density, Microdontia, Pulmonary hypoplasia, Pectus ex... OMIM:259775
Chromosome 13Q33-Q34 Deletion Syndrome
Irregular dentition, Tapered finger, Wide nasal bridge, Delayed eruption of teeth, Camptodactyly,... OMIM:619148
Antley-Bixler Syndrome
Delayed cranial suture closure, Camptodactyly of finger, Recurrent fractures, Long philtrum, Narr... ORPHA:83
Cornelia De Lange Syndrome 1
2-3 toe syndactyly, Delayed eruption of teeth, Elbow flexion contracture, Dislocated radial head,... OMIM:122470
Endosteal Hyperostosis, Worth Type
Generalized osteosclerosis, Torus palatinus, Clavicular sclerosis, Abnormal rib morphology, Diaph... ORPHA:2790
Frontometaphyseal Dysplasia
Camptodactyly of finger, Wrist flexion contracture, Short diaphyses, Short phalanx of finger, Wid... ORPHA:1826
Fetal Akinesia Deformation Sequence 1
Camptodactyly of finger, Wrist flexion contracture, Polyhydramnios, Thoracic hypoplasia, Elbow co... OMIM:208150
Intellectual Developmental Disorder, X-Linked 99, Syndromic, Female-Restricted
Tapered finger, Wide nasal bridge, Bifid uvula, Hip dislocation, Smooth philtrum, Cleft palate, C... OMIM:300968
Frontonasal Dysplasia-Bifid Nose-Upper Limb Anomalies Syndrome
Underdeveloped nasal alae, Wide nose, Wide nasal bridge, Clinodactyly of the 5th finger, Oligodac... ORPHA:521308
Mosaic Trisomy 20
Vertebral fusion, Kyphosis, Fused cervical vertebrae, Vertebral segmentation defect, Clinodactyly... ORPHA:1724
Femoral-Facial Syndrome
Hypoplastic acetabulae, Humeroradial synostosis, Toe syndactyly, Aplasia/hypoplasia of the femur,... OMIM:134780
Crouzon Syndrome-Acanthosis Nigricans Syndrome
Convex nasal ridge, Abnormal metacarpal morphology, Abnormal sacrum morphology, Abnormal palate m... ORPHA:93262
Familial Congenital Mirror Movements
Fused cervical vertebrae, Agenesis of corpus callosum ORPHA:238722
Bryant-Li-Bhoj Neurodevelopmental Syndrome 2
Gastroesophageal reflux, Genu valgum, Tapered finger, Long philtrum, Short stature, Thoracic hemi... OMIM:619721
Stapes Ankylosis With Broad Thumbs And Toes
Underdeveloped nasal alae, Proximal/middle symphalangism of 5th finger, Toe syndactyly, Fused cer... OMIM:184460
Proximal 16P11.2 Microduplication Syndrome
Short stature, Thin upper lip vermilion, Abnormal basal ganglia MRI signal intensity, Scoliosis, ... ORPHA:370079
Neurogenic Thoracic Outlet Syndrome
Abnormal rib morphology ORPHA:100073
Achondrogenesis Type 1B
Polyhydramnios, Short thorax, Hydrops fetalis, Abnormal enchondral ossification, Long philtrum, A... ORPHA:93298
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 3
Sacral dimple, Vertebral fusion, Short thorax, Short long bone, Vertebral segmentation defect, Un... OMIM:618845
Aarskog-Scott Syndrome
Camptodactyly of finger, Wide nasal bridge, Delayed eruption of teeth, Pectus excavatum, Everted ... ORPHA:915
Kyphomelic Dysplasia
Short thorax, Anterior rib cupping, Missing ribs, Flat acetabular roof, Limitation of joint mobil... ORPHA:1801
Thrombocytopenia-Absent Radius Syndrome
Short phalanx of finger, Absent thumb, Coxa valga, Patellar dislocation, Hip dislocation, Cervica... OMIM:274000
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type
Polyhydramnios, Flexion contracture, Thoracic hypoplasia, Wide nasal bridge, Pulmonary hypoplasia... OMIM:616897
Robinow Syndrome
Marked delay in eruption of permanent teeth, Bifid tongue, Gingival overgrowth, Orofacial cleft, ... ORPHA:97360
Autosomal Dominant Robinow Syndrome
Camptodactyly of finger, Bifid tongue, Coxa valga, Wide nasal bridge, Hip dislocation, Elbow disl... ORPHA:3107
Symbrachydactyly Of Hands And Feet
Aplasia/Hypoplasia of the thumb, Vertebral segmentation defect, Abnormality of the humerus, Mater... ORPHA:1570
Microcephaly With Cervical Spine Fusion Anomalies
Vertebral fusion, Microcephaly, Short stature, Spinal instability OMIM:251250
Aicardi Syndrome
Butterfly vertebrae, Hepatoblastoma, Cleft palate, Postnatal growth retardation, Polymicrogyria, ... OMIM:304050
Sifrim-Hitz-Weiss Syndrome
Vesicoureteral reflux, Tapered finger, Short femoral neck, Short stature, Fused cervical vertebra... OMIM:617159
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency
Maternal virilization in pregnancy, Flexion contracture, Humeroradial synostosis, Elbow flexion c... ORPHA:95699
Dysspondyloenchondromatosis
Metaphyseal enchondromatosis, Genu valgum, Joint dislocation, Generalized joint laxity, Short sta... ORPHA:85198
Pseudotrisomy 13 Syndrome
11 pairs of ribs, 2-3 toe syndactyly, Cleft upper lip, Encephalocele, Anal atresia, Median cleft ... OMIM:264480
Meier-Gorlin Syndrome 7
2-3 toe syndactyly, 2-4 finger syndactyly, Urethral stricture, Pulmonary hypoplasia, Breast aplas... OMIM:617063
Microphthalmia, Syndromic 3
Vertebral fusion, Anterior pituitary hypoplasia, Vertebral hypoplasia, Short stature, Esophageal ... OMIM:206900
Lamb-Shaffer Syndrome
Vertebral clefting, Wide nasal bridge, Long hallux, Clinodactyly, Bulbous nose, Overlapping toe, ... OMIM:616803
Anauxetic Dysplasia 2
Flexion contracture, Coxa valga, Hypoplastic iliac body, Hypoplasia of the femoral head, Short ne... OMIM:617396
Vertebral Anomalies And Variable Endocrine And T-Cell Dysfunction
Decreased response to growth hormone stimulation test, T lymphocytopenia, Kyphosis, Abnormal B ce... OMIM:618223
Caudal Regression Syndrome
Vesicoureteral reflux, Renal insufficiency, Arrhinencephaly, Missing ribs, Maternal diabetes, Pul... ORPHA:3027
Spondylometaphyseal Dysplasia, Axial
Anterior rib cupping, Thoracic hypoplasia, Coxa vara, Short femoral neck, Rhizomelia, Short statu... OMIM:602271
Vacterl/Vater Association
Non-midline cleft lip, Polyhydramnios, Abnormal rib morphology, Cleft palate, Abnormality of the ... ORPHA:887
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome
2-3 toe syndactyly, Short 5th finger, Wide nasal bridge, Hip dislocation, Pectus excavatum, Overl... ORPHA:508498
Wildervanck Syndrome
Fused cervical vertebrae OMIM:314600
Koolen-De Vries Syndrome
Wide nasal bridge, Microdontia, Hip dislocation, Pectus excavatum, Everted lower lip vermilion, C... ORPHA:96169
Septopreoptic Holoprosencephaly
Ethmoidal encephalocele, Perisylvian polymicrogyria, Anterior hypopituitarism, Abnormal vertebral... ORPHA:280195
Hypo- And Hypermelanotic Cutaneous Macules-Retarded Growth-Intellectual Disability Syndrome
Abnormal rib morphology, Microcephaly, Short stature ORPHA:2435
Autosomal Dominant Popliteal Pterygium Syndrome
Fibrous syngnathia, Non-midline cleft lip, Lip pit, Finger syndactyly, Toe syndactyly, Thin upper... ORPHA:1300
Prune Belly Syndrome
Congenital posterior urethral valve, Pectus excavatum, Abnormality of the ureter, Abnormal rib mo... ORPHA:2970
Marfanoid Habitus-Autosomal Recessive Intellectual Disability Syndrome
Wide nose, Subcortical cerebral atrophy, Abnormal bone ossification, High palate, Thin metatarsal... ORPHA:2463
Metaphyseal Chondrodysplasia, Jansen Type
Knee flexion contracture, Choanal stenosis, Metaphyseal cupping, Hip contracture, Short ribs, Sho... OMIM:156400
Chromosome 8Q22.1 Duplication Syndrome
Short phalanx of finger, Gastroesophageal reflux, Hallux valgus, Short metacarpal, Short stature,... OMIM:151200
Brachyolmia, Maroteaux Type
Short thorax, Short stature, Pectus excavatum, Scoliosis, Platyspondyly, Abnormal form of the ver... ORPHA:93302
Restrictive Dermopathy 1
Polyhydramnios, Flexion contracture, Convex nasal ridge, Pulmonary hypoplasia, Ankylosis, Increas... OMIM:275210
Apert Syndrome
Aplasia/Hypoplasia of the thumb, Convex nasal ridge, Narrow palate, Finger syndactyly, Ectopic an... ORPHA:87
Frontometaphyseal Dysplasia 2
Wide nasal bridge, Bifid uvula, Camptodactyly, Elbow contracture, Pectus excavatum, Dislocated ra... OMIM:617137
Cleft Palate-Short Stature-Vertebral Anomalies Syndrome
Short stature, Abnormal vertebral morphology, Short nose, Thin upper lip vermilion, Short neck, A... ORPHA:2015
Larsen-Like Osseous Dysplasia-Short Stature Syndrome
Abnormal metaphysis morphology, Short stature, Hip dysplasia, Abnormal metacarpal morphology, Cli... ORPHA:2370
Holzgreve Syndrome
Aplasia/Hypoplasia of the tongue, Bifid tongue, Aplasia/Hypoplasia of the corpus callosum, Abnorm... ORPHA:2167
Odontochondrodysplasia 1
Short phalanx of finger, Delayed eruption of teeth, Flared iliac wing, Pulmonary hypoplasia, Neph... OMIM:184260
Congenital Unilateral Hypoplasia Of Depressor Anguli Oris
Vesicoureteral reflux, Abnormal lower lip morphology, Cerebral cortical atrophy, Short stature, V... ORPHA:1166
Shashi-Pena Syndrome
Cervical C2/C3 vertebral fusion, Reduced cerebral white matter volume, Kyphosis, Short metacarpal... OMIM:617190
Mesomelic Dysplasia, Kantaputra Type
Camptodactyly of finger, Short stature, Dumbbell-shaped humerus, Vertebral segmentation defect, S... ORPHA:1836
Nemaline Myopathy 9
Polyhydramnios, Fetal akinesia sequence, High palate, Breech presentation, Scoliosis, Narrow ches... OMIM:615731
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome
Rhizomelia, Wide nasal bridge, Narrow chest, Short philtrum, Downturned corners of mouth, Abnorma... ORPHA:93267
Corpus Callosum Agenesis-Intellectual Disability-Coloboma-Micrognathia Syndrome
High palate, Short stature, Pectus excavatum, Short neck, Scoliosis, Cleft palate, Prominent nasa... ORPHA:52055
Greenberg Dysplasia
Abnormal bone ossification, Rhizomelia, Lymphedema, Narrow chest, Abnormal pelvis bone ossificati... ORPHA:1426
Sweeney-Cox Syndrome
Asplenia, Polyhydramnios, Wide nasal bridge, 2-4 finger syndactyly, Prominent metopic ridge, Choa... OMIM:617746
Smith-Lemli-Opitz Syndrome
Polyhydramnios, 2-3 toe syndactyly, Bifid tongue, Wide nasal bridge, Hip dislocation, Pulmonary h... ORPHA:818
Hypogonadotropic Hypogonadism 2 With Or Without Anosmia
Cleft upper lip, Hyposmia, Short stature, Agenesis of corpus callosum, Clinodactyly, Delayed pube... OMIM:147950
Otopalatodigital Syndrome Type 1
Wide nasal bridge, Abnormality of the tarsal bones, Increased bone mineral density, Synostosis of... ORPHA:90650
Opitz-Kaveggia Syndrome
Delayed closure of the anterior fontanelle, Multiple joint contractures, Camptodactyly, Broad hal... OMIM:305450
Ulna Metaphyseal Dysplasia Syndrome
Abnormality of fibula morphology, Depressed nasal ridge, Short stature, Microdontia, Abnormality ... ORPHA:1837
Lowry-Maclean Syndrome
Convex nasal ridge, Abnormality of the abdominal organs, Cleft palate, Widely patent coronal sutu... ORPHA:2409
Sprengel Deformity
Cleft palate, Short neck, Abnormal shoulder morphology ORPHA:3181
Lethal Congenital Contracture Syndrome Type 1
Polyhydramnios, Abnormality of the elbow, Recurrent fractures, Short stature, Slender long bone, ... ORPHA:1486
Microcephaly 10, Primary, Autosomal Recessive
Reduced cerebral white matter volume, Primary microcephaly, Simplified gyral pattern, Cerebral at... OMIM:615095
Progressive Non-Infectious Anterior Vertebral Fusion
Proximal radio-ulnar synostosis, Kyphosis, Wide mouth, Spinal rigidity, Wide nasal bridge, Short ... ORPHA:2062
Platyspondylic Dysplasia, Torrance Type
Genu varum, Polyhydramnios, Short thorax, Hydrops fetalis, Abnormal carpal morphology, Short foot... ORPHA:85166
Schneckenbecken Dysplasia
Polyhydramnios, Dumbbell-shaped long bone, Advanced ossification of carpal bones, Thoracic hypopl... OMIM:269250
Spondyloepiphyseal Dysplasia Tarda, Autosomal Recessive, Leroy-Spranger Type
Genu varum, Genu valgum, Intervertebral space narrowing, Irregular vertebral endplates, Broad fem... OMIM:609223
Marshall-Smith Syndrome
Irregular dentition, Hallux valgus, Recurrent aspiration pneumonia, Microdontia, Atlantoaxial dis... OMIM:602535
Achondrogenesis, Type Ia
Polyhydramnios, Pulmonary hypoplasia, Unossified vertebral bodies, Short neck, Disproportionate s... OMIM:200600
Thanatophoric Dysplasia, Type I
Polyhydramnios, Thoracic hypoplasia, Severe platyspondyly, Pulmonary hypoplasia, 5-minute APGAR s... OMIM:187600
Trisomy 10P
Primary microcephaly, Abnormal lip morphology, Camptodactyly, Dysphagia, Orofacial cleft, Short t... ORPHA:171929
Jeune Syndrome
Abnormal sternum morphology, Short thorax, Cone-shaped epiphysis, Abnormality of the liver, Short... ORPHA:474
Doors Syndrome
Polyhydramnios, Short 5th finger, Wide nasal bridge, Short lingual frenulum, Adrenal hyperplasia,... ORPHA:79500
Aphalangy-Hemivertebrae-Urogenital-Intestinal Dysgenesis Syndrome
Finger syndactyly, Toe syndactyly, Persistent cloaca, Abnormal metacarpal morphology, Aplasia/Hyp... ORPHA:1112
Keratoconus Posticus Circumscriptus
Vesicoureteral reflux, Cleft upper lip, Clinodactyly of the 5th finger, Abnormal vertebral segmen... OMIM:244600
Congenital Disorder Of Glycosylation, Type Iig
Hemolytic-uremic syndrome, Wide nasal bridge, Camptodactyly, Butterfly vertebrae, Short neck, Pos... OMIM:611209
Corpus Callosum, Agenesis Of, With Impaired Intellectual Development, Ocular Coloboma, And Micrognathia
Thoracolumbar scoliosis, High palate, Recurrent aspiration pneumonia, Short stature, Bilateral cr... OMIM:300472
Vacterl With Hydrocephalus
Polyhydramnios, Absence of the sacrum, Esophageal atresia, Spina bifida, Arrhinencephaly, Hypopla... ORPHA:3412
Wildervanck Syndrome
Meningocele, Fused cervical vertebrae, Short neck ORPHA:3456
Axial Spondylometaphyseal Dysplasia
Thoracic hypoplasia, Flattened femoral head, Aplasia/Hypoplasia of the vertebrae, Mild postnatal ... ORPHA:168549
Pseudoachondroplasia
Short phalanx of finger, Irregular carpal bones, Irregular acetabular roof, Limited elbow extensi... ORPHA:750
Rere-Related Neurodevelopmental Syndrome
Vesicoureteral reflux, Gastroesophageal reflux, Hip dysplasia, Hypospadias, Scoliosis, Hypoplasia... ORPHA:494344
Achondrogenesis Type 1A
Polyhydramnios, Short thorax, Hydrops fetalis, Abnormal enchondral ossification, Recurrent fractu... ORPHA:93299
Platyspondylic Lethal Skeletal Dysplasia, Torrance Type
Polyhydramnios, Dumbbell-shaped long bone, Thoracic hypoplasia, Severe platyspondyly, Pulmonary h... OMIM:151210
Autosomal Dominant Brachyolmia
Short thorax, Increased vertebral height, Short stature, Kyphoscoliosis, Platyspondyly, Abnormal ... ORPHA:93304
Limb Body Wall Complex
Thoracic hypoplasia, Wide nasal bridge, Abnormal thorax morphology, Spina bifida occulta, Broad h... ORPHA:2369
Esophageal Atresia
Polyhydramnios, Pulmonary hypoplasia, Dysphagia, Cleft palate, Choanal atresia, Bronchitis, Abnor... ORPHA:1199
Short Stature, Amelogenesis Imperfecta, And Skeletal Dysplasia With Scoliosis
Advanced ossification of carpal bones, Thoracic hypoplasia, Coxa valga, Tooth agenesis, Flattened... OMIM:618363
Thanatophoric Dysplasia, Type Ii
Polyhydramnios, Metaphyseal irregularity, Hypoplastic ilia, Short ribs, Short greater sciatic not... OMIM:187601
Spondylometaphyseal Dysplasia, 'Corner Fracture' Type
Vertebral hypoplasia, Corner fracture of metaphysis, Limb pain, Short neck, Ovoid vertebral bodie... ORPHA:93315
X-Linked Intellectual Disability, Abidi Type
Non-midline cleft lip, Short stature, Decreased testicular size, Pectus excavatum, Scoliosis, Mic... ORPHA:85273
Kabuki Syndrome
Vertebral clefting, Lip pit, Short 5th finger, Cerebral cortical atrophy, Microdontia, Hip disloc... ORPHA:2322
Diastrophic Dysplasia
Genu valgum, Hip contracture, Patellar dislocation, Short long bone, Cervical kyphosis, Short fin... OMIM:222600
Spondyloepimetaphyseal Dysplasia With Joint Laxity
Elbow flexion contracture, Hip dislocation, Dislocated radial head, Limited elbow extension, Abno... ORPHA:93359
Trisomy 18
Camptodactyly of finger, Non-midline cleft lip, Narrow pelvis bone, Delayed skeletal maturation, ... ORPHA:3380
Diabetes Mellitus, Neonatal, With Congenital Hypothyroidism
Hepatomegaly, Splenomegaly, Choanal atresia, Hepatic fibrosis, Polycystic kidney dysplasia, Porta... OMIM:610199
Growth Delay-Hydrocephaly-Lung Hypoplasia Syndrome
Radial bowing, Pulmonary hypoplasia, Lower limb undergrowth, Cerebral calcification, Intestinal m... ORPHA:3035
Neurodevelopmental Disorder With Microcephaly, Hypotonia, Nystagmus, And Seizures
Gastroesophageal reflux, Cerebral edema, High palate, Decreased fetal movement, Macroglossia, Mic... OMIM:619876
Achondrogenesis Type 2
Unossified sacrum, Abnormal bone ossification, Pierre-Robin sequence, Hypoplastic ilia, Short rib... ORPHA:93296
Catel-Manzke Syndrome
Camptodactyly of finger, Metatarsus valgus, Short stature, Oral synechia, Clinodactyly of the 5th... ORPHA:1388
Mucopolysaccharidosis, Type Iva
Chondroitin sulfate excretion in urine, Pointed proximal second through fifth metacarpals, Coxa v... OMIM:253000
Distal 22Q11.2 Microdeletion Syndrome
Camptodactyly of finger, Coxa valga, Toe syndactyly, Smooth philtrum, Cleft palate, Short palm, C... ORPHA:261330
Lenz-Majewski Hyperostotic Dwarfism
Delayed cranial suture closure, Increased bone mineral density, Bifid uvula, Delayed skeletal mat... ORPHA:2658
Marshall-Smith Syndrome
Increased susceptibility to fractures, Bowing of the long bones, Gingival overgrowth, Slender lon... ORPHA:561
Campomelia, Cumming Type
Pancreatic cysts, Multicystic kidney dysplasia, Hydrops fetalis, Abnormality of the pancreas, Lym... ORPHA:1318
Developmental And Speech Delay Due To Sox5 Deficiency
2-3 toe syndactyly, Vertebral fusion, Gastroesophageal reflux, Narrow palate, Exaggerated median ... ORPHA:313892
Chops Syndrome
Cervical C2/C3 vertebral fusion, Vesicoureteral reflux, Gastroesophageal reflux, Aspiration pneum... OMIM:616368
Craniosynostosis, Herrmann-Opitz Type
Convex nasal ridge, Finger syndactyly, Short stature, Aplasia/Hypoplasia of the lungs, Oligohydra... ORPHA:2145
Three M Syndrome 1
Short 5th finger, Hip dislocation, Pectus excavatum, Spina bifida occulta, Short neck, Delayed sk... OMIM:273750
Spondyloepimetaphyseal Dysplasia, Irapa Type
Short metatarsal, Genu valgum, Upper limb undergrowth, Abnormal carpal morphology, Coxa vara, Sho... ORPHA:93351
Acrocapitofemoral Dysplasia
Genu varum, Hyperlordosis, Short thorax, Coxa vara, Short stature, Flared iliac wing, Cone-shaped... ORPHA:63446
Ulna And Fibula, Absence Of, With Severe Limb Deficiency
Humeroradial synostosis, Wide nasal bridge, Aplasia/hypoplasia of the femur, Elbow flexion contra... OMIM:276820
Chromosome 9P Deletion Syndrome
Tapered finger, Wide nasal bridge, Clinodactyly of the 5th toe, Short neck, Thin vermilion border... OMIM:158170
Vater/Vacterl Association
Patent urachus, Abnormal rib morphology, Postnatal growth retardation, Choanal atresia, Vesicoure... OMIM:192350
Orofaciodigital Syndrome Type 4
Camptodactyly of finger, Cerebral cortical atrophy, Bifid uvula, Pulmonary hypoplasia, Abnormal o... ORPHA:2753
Robin Sequence-Oligodactyly Syndrome
Abnormal metacarpal morphology, Clinodactyly of the 5th finger, Hand oligodactyly, Abnormal morph... ORPHA:3104
Fibrochondrogenesis 1
Dumbbell-shaped long bone, Thoracic hypoplasia, Camptodactyly, Short neck, Cleft palate, Widely p... OMIM:228520
Pontine Tegmental Cap Dysplasia
Ankle clonus, Rib fusion, Scoliosis, Dysphagia, Hypoplasia of the corpus callosum, Hemivertebrae OMIM:614688
Multiple Epiphyseal Dysplasia, Beighton Type
Pedal edema, Flattened femoral head, Low back pain, Flat capital femoral epiphysis, Thoracic plat... ORPHA:166011
Cutis Laxa, Autosomal Recessive, Type Iie
Genu varum, Short thorax, High palate, Long philtrum, Convex nasal ridge, Wide nasal bridge, Thic... OMIM:619451
Cartilage-Hair Hypoplasia
Limited elbow extension, Short palm, Lumbar hyperlordosis, Esophageal atresia, Narrow vertebral i... OMIM:250250
Camptodactyly Syndrome, Guadalajara Type 1
Camptodactyly of finger, Hallux valgus, Toe syndactyly, Pectus excavatum, Delayed skeletal matura... ORPHA:1327
Mayer-Rokitansky-Küster-Hauser Syndrome Type 2
Short stature, Vertebral segmentation defect, Ectopic kidney, Short neck, Abnormal rib morphology ORPHA:2578
3M Syndrome
Horizontal ribs, Enlarged thorax, Delayed eruption of teeth, Everted lower lip vermilion, Short n... ORPHA:2616
Restrictive Dermopathy
Camptodactyly of finger, Polyhydramnios, Multiple joint contractures, Microcolon, Pulmonary hypop... ORPHA:1662
Cardiospondylocarpofacial Syndrome
Pseudoepiphyses, Wide nasal bridge, Delayed skeletal maturation, Fusion of middle ear ossicles, V... OMIM:157800
Mucopolysaccharidosis Type 4
Coxa valga, Grayish enamel, Short neck, Delayed skeletal maturation, Abnormal rib morphology, Abn... ORPHA:582
Distal Monosomy 17Q
Abnormality of the philtrum, Aplasia/Hypoplasia of the thumb, Short thorax, Deviation of finger, ... ORPHA:1597
Osteogenesis Imperfecta, Type Ix
Dentinogenesis imperfecta, Bowing of limbs due to multiple fractures, Recurrent fractures, Kyphos... OMIM:259440
Aspergillosis
Nasal congestion, Osteomyelitis, Neutropenia, Bronchiectasis, Abnormal long bone morphology, Hepa... ORPHA:1163
Spondylocarpotarsal Synostosis Syndrome
Short neck, Delayed skeletal maturation, Limited elbow extension, Scapular winging, Cleft palate,... OMIM:272460
Burn-Mckeown Syndrome
Wide nasal bridge, Short stature, Short nose, Bilateral choanal atresia, Abnormal palate morpholo... ORPHA:1200
Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy
Hyperlordosis, Gastroesophageal reflux, Flexion contracture, Cerebral edema, Macroglossia, Lissen... ORPHA:258
Auricular Abnormalities-Cleft Lip With Or Without Cleft Palate-Ocular Abnormalities Syndrome
Underdeveloped nasal alae, Depressed nasal ridge, Kyphosis, Deep philtrum, Wide nasal bridge, Pec... ORPHA:77300
Microcephalic Primordial Dwarfism, Montreal Type
Congenital pyloric atresia, Convex nasal ridge, Kyphosis, Vertebral segmentation defect, Severe s... ORPHA:2617
Edinburgh Malformation Syndrome
Accelerated skeletal maturation, Ulnar deviation of finger, Short nose, Downturned corners of mou... ORPHA:1895
Otopalatodigital Syndrome Type 2
Camptodactyly of finger, Increased bone mineral density, Flared iliac wing, Pulmonary hypoplasia,... ORPHA:90652
Roifman Syndrome
Eosinophilia, Hepatomegaly, Splenomegaly, Postnatal growth retardation, Short toe, Irregular vert... OMIM:616651
Three M Syndrome 2
Short 5th finger, Delayed eruption of teeth, Prominent nasal tip, Short neck, Delayed skeletal ma... OMIM:612921
Acromicric Dysplasia
Short phalanx of finger, Long philtrum, Deep philtrum, Short foot, Thick lower lip vermilion, Sho... OMIM:102370
Spondylomegaepiphyseal Dysplasia With Upper Limb Mesomelia, Punctate Calcifications, And Deafness
Hypoplastic iliac wing, Irregular vertebral endplates, Hypoplastic pubic bone, Short foot, Enlarg... OMIM:609616
Noonan Syndrome 7
Short stature, Impaired oropharyngeal swallow response, Pectus excavatum, Joint hypermobility, De... OMIM:613706
Brachyolmia Type 1, Toledo Type
Back pain, Intervertebral space narrowing, Irregular vertebral endplates, Increased urinary disac... OMIM:271630
Metaphyseal Chondrodysplasia, Schmid Type
Short tubular bones of the hand, Metaphyseal cupping of proximal phalanges, Lumbar hyperlordosis,... ORPHA:174
Deeah Syndrome
Polyhydramnios, Exocrine pancreatic insufficiency, Prominent nasal tip, Short neck, Delayed skele... OMIM:619004
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome
Absent thumb, Ischemic stroke, Wide nasal bridge, Bifid uvula, Unilateral lung agenesis, Fetal di... ORPHA:500150
Spondyloepimetaphyseal Dysplasia, Strudwick Type
Hyperlordosis, Genu valgum, Metaphyseal irregularity, Anterior rib cupping, Coxa vara, Hypoplasti... OMIM:184250
Short Rib-Polydactyly Syndrome
Horizontal ribs, Polyhydramnios, Absent or minimally ossified vertebral bodies, Short tibia, Thor... ORPHA:1505
Achondrogenesis, Type Ii
Horizontal ribs, Polyhydramnios, Hypoplastic iliac wing, Hydrops fetalis, Long philtrum, Short tu... OMIM:200610
Pallister-Hall Syndrome
Gonadotropin deficiency, Short 4th metacarpal, Toe syndactyly, Bifid uvula, Hip dislocation, Thyr... ORPHA:672
Monosomy 9P
Short neck, Postaxial hand polydactyly, Abnormal rib morphology, Cleft palate, Choanal atresia, L... ORPHA:261112
Citrullinemia, Type Ii, Adult-Onset
Hepatic fibrosis, Argininosuccinic aciduria, Cerebral edema, Elevated circulating alanine aminotr... OMIM:603471
Progressive Pseudorheumatoid Arthropathy Of Childhood
Wrist swelling, Flat capital femoral epiphysis, Camptodactyly, Polyarticular arthropathy, General... ORPHA:1159
Spondylometaphyseal Dysplasia With Cone-Rod Dystrophy
Dental malocclusion, Metaphyseal irregularity, Metaphyseal cupping, Severe platyspondyly, Coxa va... OMIM:608940
Microcephalic Primordial Dwarfism, Toriello Type
Enamel hypoplasia, Neutropenia, Severe short stature, Downturned corners of mouth, Delayed skelet... ORPHA:2643
Chromosome 1Q41-Q42 Deletion Syndrome
Pulmonary hypoplasia, Supernumerary nipple, Pectus excavatum, Cleft palate, Microcephaly, Cryptor... OMIM:612530
Spondyloepimetaphyseal Dysplasia, X-Linked, With Hypomyelinating Leukodystrophy
Flexion contracture, Flared iliac wing, Short neck, Delayed skeletal maturation, Flattened epiphy... OMIM:300232
Atelosteogenesis Type I
Polyhydramnios, Absent or minimally ossified vertebral bodies, Joint dislocation, Thoracic hypopl... ORPHA:1190
Marden-Walker Syndrome
Camptodactyly, Pulmonary hypoplasia, Short neck, Cleft palate, Postnatal growth retardation, Narr... OMIM:248700
Rhizomelic Syndrome, Urbach Type
Triphalangeal thumb, Abnormality of the knee, Preaxial hand polydactyly, High palate, Abnormality... ORPHA:3098
Chromosome 16P13.3 Duplication Syndrome
Tapered finger, Wide nasal bridge, Microdontia, Bifid uvula, Camptodactyly, Hip dislocation, Pect... OMIM:613458
Dyssegmental Dysplasia, Silverman-Handmaker Type
Flexion contracture, Wide nasal bridge, Increased placental thickness, Pulmonary hypoplasia, Club... ORPHA:1865
Spondylometaphyseal Dysplasia, A4 Type
Flared, irregular rib ends, Coxa vara, Limitation of joint mobility, Severe short stature, Platys... ORPHA:168555
Renpenning Syndrome
Prominent nose, Decreased testicular size, Short philtrum, Anal atresia, Clinodactyly of the 5th ... ORPHA:3242
Thanatophoric Dysplasia
Polyhydramnios, Short thorax, Kyphosis, Hip dysplasia, Pulmonary hypoplasia, Brachydactyly, Depre... ORPHA:2655
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia
11 pairs of ribs, Hypoplastic iliac wing, Metaphyseal cupping, Depressed nasal ridge, Rhizomelia,... OMIM:300863
Mosaic Trisomy 8
Camptodactyly of finger, Narrow pelvis bone, Short neck, Abnormal rib morphology, Cleft palate, A... ORPHA:96061
Epiphyseal Dysplasia, Multiple, With Severe Proximal Femoral Dysplasia
Broad femoral neck, Genu valgum, Coxa vara, Flat distal femoral epiphysis, Short femoral neck, Sh... OMIM:609324
Holoprosencephaly
Spinal dysraphism, Anterior hypopituitarism, Median cleft lip, Short neck, Tooth agenesis, Depres... ORPHA:2162
Spondyloepimetaphyseal Dysplasia, Irapa Type
Hypoplastic sacrum, Genu valgum, Enlargement of the costochondral junction, Metaphyseal dysplasia... OMIM:271650
Alagille Syndrome 1
Hepatocellular carcinoma, Elevated hepatic transaminase, Peripheral pulmonary artery stenosis, Ab... OMIM:118450
Vacterl Association, X-Linked, With Or Without Hydrocephalus
Sacral dimple, Urethral atresia, Polyhydramnios, Esophageal atresia, Enlarged kidney, Hand polyda... OMIM:314390
Epiphyseal Dysplasia, Multiple, 1
Short phalanx of finger, Broad femoral neck, Genu valgum, Irregular vertebral endplates, Generali... OMIM:132400
Bamforth-Lazarus Syndrome
Cleft palate, Polyhydramnios, Choanal atresia OMIM:241850
Spondyloepiphyseal Dysplasia-Brachydactyly-Speech Disorder Syndrome
Thick upper lip vermilion, Enlarged thorax, Wide nasal bridge, Rhizo-meso-acromelic limb shorteni... ORPHA:163654
Crouzon Syndrome
Convex nasal ridge, Narrow palate, Abnormal sacrum morphology, Multiple suture craniosynostosis, ... ORPHA:207
Intellectual Disability-Polydactyly-Uncombable Hair Syndrome
Metatarsus valgus, Kyphosis, Short stature, Toe syndactyly, Aplasia/Hypoplasia of fingers, Aplasi... ORPHA:3082
Kbg Syndrome
Cervical ribs, Short neck, Delayed skeletal maturation, Radial deviation of finger, Ulnar deviati... OMIM:148050
Alagille Syndrome
Nephrotic syndrome, Butterfly vertebral arch, Vertebral segmentation defect, Short philtrum, Clin... ORPHA:52
Sheldon-Hall Syndrome
High palate, Wide nasal bridge, Short stature, Ulnar deviation of the wrist, Vertebral segmentati... ORPHA:1147
Multinucleated Neurons, Anhydramnios, Renal Dysplasia, Cerebellar Hypoplasia, And Hydranencephaly
Ureteral agenesis, 2-3 toe syndactyly, Choanal stenosis, Narrow nasal ridge, Clinodactyly of the ... OMIM:236500
Lethal Congenital Contracture Syndrome 10
Fetal akinesia sequence, Stiff neck, Hypoplasia of the thymus, Narrow palate, High palate, Long p... OMIM:617022
Short-Rib Thoracic Dysplasia 20 With Polydactyly
Horizontal ribs, Short tibia, Pulmonary hypoplasia, Short neck, Lateral clavicle hook, Cleft pala... OMIM:617925
Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly
Polydactyly, Short lingual frenulum, Microdontia, Thoracic dysplasia, Pulmonary hypoplasia, Cleft... OMIM:614091
Microphthalmia With Cyst, Bilateral Facial Clefts, And Limb Anomalies
Ethmoidal encephalocele, Cleft upper lip, Depressed nasal ridge, Broad proximal phalanges of the ... OMIM:607597
Acromicric Dysplasia
Long philtrum, Short metacarpal, Fifth metacarpal with ulnar notch, Thick lower lip vermilion, Sm... ORPHA:969
Fibrochondrogenesis 2
Bell-shaped thorax, Metaphyseal cupping, Thoracic hypoplasia, Hypoplastic pubic bone, Hypoplastic... OMIM:614524
Elsahy-Waters Syndrome
Abnormality of the anus, Wide nasal bridge, Delayed eruption of teeth, Bifid uvula, Pectus excava... OMIM:211380
Craniodiaphyseal Dysplasia
Short stature, Wide nasal bridge, Depressed nasal bridge, Abnormal rib morphology, Diaphyseal thi... ORPHA:1513
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Microdeletion
Wrist flexion contracture, Polyhydramnios, Flexion contracture, Thoracic hypoplasia, Camptodactyl... ORPHA:254528
Spondyloepiphyseal Dysplasia, Stanescu Type
Stiff neck, Coxa valga, Hypoplastic ilia, Short stature, Vertebral wedging, Internal tibial torsi... OMIM:616583
7Q11.23 Microduplication Syndrome
Short lingual frenulum, Tracheomalacia, Pectus excavatum, Short neck, Abnormal columella morpholo... ORPHA:96121
Coffin-Siris Syndrome 1
Conical tooth, Coxa valga, Delayed eruption of teeth, Microdontia, Dislocated radial head, Spina ... OMIM:135900
Cloacal Exstrophy
Vesicoureteral reflux, Myelomeningocele, Spina bifida, Hydroureter, Hip dislocation, Hypoplasia o... ORPHA:93929
Hall-Riggs Mental Retardation Syndrome
Enamel hypoplasia, Irregular vertebral endplates, Prominent nose, Kyphosis, Thick lower lip vermi... OMIM:234250
Spondylo-Megaepiphyseal-Metaphyseal Dysplasia
Flexion contracture, Hip dislocation, Butterfly vertebrae, Pseudoepiphyses of hand bones, Short n... OMIM:613330
Charge Syndrome
Polyhydramnios, Delayed eruption of teeth, Anterior hypopituitarism, Abnormal soft palate morphol... ORPHA:138
Acrocapitofemoral Dysplasia
Short tibia, Flared iliac wing, Short proximal phalanx of finger, Pectus excavatum, Short femur, ... OMIM:607778
Grant Syndrome
Joint dislocation, Short stature, Narrow chest, Abnormality of the glenoid fossa, Abnormal pelvic... ORPHA:2097
Mucopolysaccharidosis, Type Ivb
Chondroitin sulfate excretion in urine, Pointed proximal second through fifth metacarpals, Coxa v... OMIM:253010
Dyggve-Melchior-Clausen Disease
Hypoplastic acetabulae, Short neck, Limited elbow extension, Beaking of vertebral bodies, Abnorma... ORPHA:239
Phaver Syndrome
Camptodactyly of finger, Triphalangeal thumb, Myelomeningocele, Pulmonary artery atresia, Short t... ORPHA:2876
Spondyloepiphyseal Dysplasia Tarda
Hip osteoarthritis, Flattened femoral head, Increased bone mineral density, Stiff knee, Limb pain... ORPHA:93284
Thoracolaryngopelvic Dysplasia
Horizontal ribs, Bell-shaped thorax, Hypoplastic iliac wing, Irregular vertebral endplates, Irreg... OMIM:187760
Pallister-Hall-Like Syndrome
Short stature, Short ribs, Anterior hypopituitarism, Toe syndactyly, Hip dislocation, Pulmonary h... OMIM:241800
Bamforth-Lazarus Syndrome
Cleft palate, Polyhydramnios, Choanal atresia ORPHA:1226
Intellectual Developmental Disorder, X-Linked, Syndromic, Siderius Type
Thoracic kyphosis, Broad nasal tip, Long toe, Cleft lip, Arachnodactyly, Microcephaly, Cleft palate OMIM:300263
Microcephaly-Micromelia Syndrome
Short tibia, Absent thumb, Convex nasal ridge, Humeroradial synostosis, Pulmonary hypoplasia, Sho... OMIM:251230
Craniofacioskeletal Syndrome
Absent gallbladder, Short foot, Small hand, Short stature, Short philtrum, Clinodactyly of the 5t... OMIM:300712
Blepharocheilodontic Syndrome 1
Conical tooth, Cleft upper lip, Neural tube defect, Hypodontia, Clinodactyly, Anal atresia, Cutan... OMIM:119580
Melnick-Needles Syndrome
Delayed cranial suture closure, Osteolytic defects of the phalanges of the hand, Coxa valga, Dela... ORPHA:2484
Short-Rib Thoracic Dysplasia 11 With Or Without Polydactyly
Horizontal ribs, Bell-shaped thorax, Polyhydramnios, Short long bone, Thoracic dysplasia, Brachyd... OMIM:615633
Intellectual Disability-Myopathy-Short Stature-Endocrine Defect Syndrome
Hyperlordosis, Short stature, Prominent nasal bridge, Hypoplasia of penis, Clinodactyly of the 5t... ORPHA:3068
Osteogenesis Imperfecta, Type Ii
Premature birth, Bell-shaped thorax, Crumpled long bones, Convex nasal ridge, Thoracic hypoplasia... OMIM:166210
X-Linked Female Restricted Facial Dysmorphism-Short Stature-Choanal Atresia-Intellectual Disability
Tapered finger, Hallux valgus, Patellar subluxation, Wide nasal bridge, 5-minute APGAR score of 5... ORPHA:480880
Arthrogryposis Multiplex Congenita 1, Neurogenic, With Myelin Defect
Knee flexion contracture, Fetal akinesia sequence, Distal arthrogryposis, Flexion contracture, Hi... OMIM:617468
Koolen-De Vries Syndrome
Hip dislocation, Pectus excavatum, Everted lower lip vermilion, Slender finger, Prominent metopic... OMIM:610443
Microcephalic Osteodysplastic Dysplasia, Saul-Wilson Type
Overhanging nasal tip, Convex nasal ridge, Small hand, Short stature, Hypoplasia of the odontoid ... ORPHA:85172
Camptodactyly Syndrome, Guadalajara Type 2
Camptodactyly of finger, Short 5th toe, Patellar hypoplasia, Short 3rd toe, Short stature, Cuboid... ORPHA:1326
Feingold Syndrome
Hallux valgus, Short stature, Esophageal atresia, Toe syndactyly, Clinodactyly of the 5th finger,... ORPHA:1305
Spondylometaphyseal Dysplasia, Kozlowski Type
Elbow flexion contracture, Flared iliac wing, Irregular capital femoral epiphysis, Short neck, De... OMIM:184252
Autosomal Recessive Multiple Pterygium Syndrome
Camptodactyly of finger, Pulmonary hypoplasia, Pectus excavatum, Spina bifida occulta, Cleft pala... ORPHA:2990
Laryngotracheoesophageal Cleft Type 4
Tracheoesophageal fistula, Abnormality of mesentery morphology, Abnormal rib morphology, Abnormal... ORPHA:93941
Bronchogenic Cyst
Back pain, Abnormal pleura morphology, Abnormality of the cervical spine, Pulmonary cyst, Abnorma... ORPHA:2357
Gm1-Gangliosidosis, Type I
Thickened ribs, Hydrops fetalis, Depressed nasal ridge, Kyphosis, Gingival overgrowth, Hypoplasti... OMIM:230500
Mucopolysaccharidosis, Type X
Hyperlordosis, Genu valgum, Long philtrum, Wide nasal bridge, Widely spaced teeth, Broad clavicle... OMIM:619698
Congenital Amegakaryocytic Thrombocytopenia
Anemia, Short stature, Short neck, Decreased skull ossification, Scoliosis, Thrombocytopenia, Abn... ORPHA:3319
Spondyloepimetaphyseal Dysplasia, Borochowitz-Cormier-Daire Type
Dysplastic iliac wing, Thoracic hypoplasia, Hypoplastic pubic bone, Short long bone, Flat acetabu... OMIM:608728
Pfeiffer Syndrome Type 3
Vesicoureteral reflux, Hallux varus, High palate, Finger syndactyly, Small hand, Toe syndactyly, ... ORPHA:93260
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type
Hypoplastic iliac wing, Short foot, Abnormality of the calcaneus, Wide mouth, Depressed nasal rid... ORPHA:163966
9Q21.13 Microdeletion Syndrome
Polydactyly, Aplasia/Hypoplasia of the corpus callosum, Vertebral segmentation defect, Hip dyspla... ORPHA:531151
22Q11.2 Deletion Syndrome
Meningocele, Polyhydramnios, Hypoplasia of the thymus, Patellar dislocation, Wide nasal bridge, A... ORPHA:567
Cenani-Lenz Syndrome
Convex nasal ridge, Toe syndactyly, Hip dislocation, Elbow dislocation, Abnormal rib morphology, ... ORPHA:3258
Fibrochondrogenesis
Camptodactyly of finger, Bell-shaped thorax, Abnormal metaphysis morphology, Short ribs, Narrow c... ORPHA:2021
Achondroplasia
Polyhydramnios, Spinal stenosis with reduced interpedicular distance, Severe platyspondyly, Thora... OMIM:100800
Multiple Synostoses Syndrome 2
Wide nose, Vertebral fusion, Humeroradial synostosis, Finger symphalangism, Carpal synostosis, Pr... OMIM:610017
Mucolipidosis Type Iii
Hyperlordosis, Short stature, Large iliac wing, Hypoplastic inferior ilia, Abnormal hip bone morp... ORPHA:577
Cleidocranial Dysplasia
Tapered finger, Delayed eruption of teeth, Hypoplastic inferior ilia, Spina bifida occulta, Abnor... ORPHA:1452
Oeis Complex
11 pairs of ribs, Duplicated colon, Myelomeningocele, Vesicovaginal fistula, Absence of the sacru... OMIM:258040
Epiphyseal Dysplasia, Multiple, 7
Genu varum, Monkey wrench femoral neck, Advanced ossification of carpal bones, Short femoral neck... OMIM:617719
Seckel Syndrome 5
11 pairs of ribs, Enamel hypoplasia, Convex nasal ridge, High palate, Abnormal cortical gyration,... OMIM:613823
Mosaic Trisomy 16
Abnormal thorax morphology, Pulmonary hypoplasia, Short thumb, Intrauterine growth retardation, A... ORPHA:1708
Choanal Atresia And Lymphedema
Pericardial effusion, Choanal atresia, High palate, Lymphedema OMIM:613611
Even-Plus Syndrome
Vertebral clefting, Vesicoureteral reflux, High palate, Depressed nasal ridge, Hypodontia, Agenes... OMIM:616854
Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart
Smooth philtrum, Furrowed tongue, Lumbar hyperlordosis, Choanal atresia, Vesicoureteral reflux, B... OMIM:616975
Orofaciodigital Syndrome Type 1
Lip pit, Wide nasal bridge, Elevated hepatic transaminase, Median cleft lip, Postaxial hand polyd... ORPHA:2750
Roifman Syndrome
Irregular capital femoral epiphysis, Hepatosplenomegaly, Eosinophilia, Broad femoral head, Postna... ORPHA:353298
Dyssegmental Dysplasia, Silverman-Handmaker Type
Neonatal death, Thoracic hypoplasia, Wide nasal bridge, Short long bone, Anisospondyly, Pterygium... OMIM:224410
Spondylometaphyseal Dysplasia, Kozlowski Type
Short tubular bones of the hand, Flared iliac wing, Absent epiphyses of the phalanges of the hand... ORPHA:93314
Spondylometaphyseal Dysplasia With Corneal Dystrophy
Increased intervertebral space, Short ribs, Short long bone, Coarse metaphyseal trabecularization... OMIM:618961
Trisomy 13
Hydrops fetalis, Long philtrum, Kyphosis, Narrow chest, Abnormal lung lobation, Intrauterine grow... ORPHA:3378
Cartilage-Hair Hypoplasia
Spinal dysraphism, Convex nasal ridge, Wide nasal bridge, Abnormal distal phalanx morphology of f... ORPHA:175
Spondyloepiphyseal Dysplasia-Craniosynostosis-Cleft Palate-Cataracts-Intellectual Disability Syndrome
Coxa valga, Abnormality of cranial sutures, Increased bone mineral density, Short neck, Ovoid ver... ORPHA:163649
Vertebral Hypersegmentation And Orofacial Anomalies
Supernumerary ribs, Submucous cleft hard palate, Supernumerary nipple, Pectus excavatum, Joint hy... OMIM:619122
Lujo Hemorrhagic Fever
Leukopenia, Cerebral edema, Stiff neck, Renal insufficiency, Rhinitis, Fulminant hepatitis, Eleva... ORPHA:319213
Arrhinia-Choanal Atresia-Microphthalmia Syndrome
Aplasia/Hypoplasia involving the nose, High palate, Tooth agenesis, Cleft palate, Abnormality of ... ORPHA:1135
Peters-Plus Syndrome
Polyhydramnios, Short lingual frenulum, Biliary tract abnormality, Pectus excavatum, Short neck, ... OMIM:261540
Mullerian Duct Aplasia, Unilateral Renal Agenesis, And Cervicothoracic Somite Anomalies
Cleft upper lip, Short stature, Unilateral renal agenesis, Ectopic kidney, Sprengel anomaly, Abno... OMIM:601076
Spondyloepimetaphyseal Dysplasia With Hypotrichosis
Genu varum, Pear-shaped vertebrae, Medial widening of clavicles, Coxa vara, Decreased hip abducti... OMIM:183849
Mucopolysaccharidosis Type 6
Genu valgum, Kyphosis, Thick lower lip vermilion, Macroglossia, Thick nasal alae, Epiphyseal dysp... ORPHA:583
Pseudoachondroplasia
Short phalanx of finger, Atlantoaxial dislocation, Irregular carpal bones, Limited elbow extensio... OMIM:177170
Pfeiffer Syndrome
Short middle phalanx of toe, Choanal stenosis, High palate, Finger syndactyly, Humeroradial synos... OMIM:101600
Methimazole Embryofetopathy
Polyhydramnios, Esophageal atresia, Tracheoesophageal fistula, Hypospadias, Intrauterine growth r... ORPHA:1923
Otospondylomegaepiphyseal Dysplasia, Autosomal Dominant
Pierre-Robin sequence, Enlarged epiphyses, Epiphyseal dysplasia, Premature osteoarthritis, Depres... OMIM:184840
Tibial Hemimelia
Short tibia, Polydactyly, Coxa valga, Hip dislocation, Metatarsus adductus, Aplasia of the 2nd me... ORPHA:93322
Ghosal Hematodiaphyseal Dysplasia
Anemia, Abnormal pelvic girdle bone morphology, Abnormality of tibia morphology, Abnormality of f... ORPHA:1802
Frontofacionasal Dysplasia
Non-midline cleft lip, Encephalocele, Depressed nasal ridge, Short stature, Short nose, Dimple on... ORPHA:1791
Vertebral Fusion, Posterior Lumbosacral, With Blepharoptosis
Posterior fusion of lumbosacral vertebrae OMIM:192800
Larsen Syndrome
Spatulate thumbs, Hip dislocation, Elbow dislocation, Spina bifida occulta, Pectus excavatum, Bip... OMIM:150250
Tetraamelia-Multiple Malformations Syndrome
Polyhydramnios, Aplasia/Hypoplasia involving the nose, Multicystic kidney dysplasia, Septo-optic ... ORPHA:3301
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 3
Metaphyseal irregularity, Irregular vertebral endplates, Tapered finger, Patellar dislocation, Sh... OMIM:618395
Posterior Fusion Of Lumbosacral Vertebrae-Blepharoptosis Syndrome
Sacral dimple, Posterior fusion of lumbosacral vertebrae, Joint stiffness, Tarsal synostosis, Abn... ORPHA:2064
Cornelia De Lange Syndrome
Cerebral cortical atrophy, Delayed eruption of teeth, Toe syndactyly, Hip dislocation, Elbow disl... ORPHA:199
Osteogenesis Imperfecta, Type Xv
Bowing of limbs due to multiple fractures, Recurrent fractures, Short stature, Joint hypermobilit... OMIM:615220
Diamond-Blackfan Anemia 10
Anemia, Steroid-responsive anemia, Reticulocytopenia, Short stature, Supernumerary ribs, Ectopic ... OMIM:613309
Short-Rib Thoracic Dysplasia 12
Horizontal ribs, Polyhydramnios, Thoracic dysplasia, Pulmonary hypoplasia, Median cleft lip, Shor... OMIM:269860
Congenital Osteogenesis Imperfecta-Microcephaly-Cataracts Syndrome
Recurrent fractures, Hypoplasia of penis, Disproportionate short-limb short stature, Joint hyperf... ORPHA:2772
Lethal Congenital Contracture Syndrome 1
Abnormal thorax morphology, Widening of cervical spinal canal, Pulmonary hypoplasia, Edema, Neona... OMIM:253310
Hallermann-Streiff Syndrome
Convex nasal ridge, Abnormality of the tongue, Proportionate short stature, Glossoptosis, Choanal... ORPHA:2108
Cantu Syndrome
Thick upper lip vermilion, Broad first metatarsal, Coxa valga, Wide nasal bridge, Erlenmeyer flas... OMIM:239850
White Forelock With Malformations
Finger syndactyly, Deep philtrum, Clinodactyly of the 5th finger, Spina bifida occulta, Sprengel ... ORPHA:2475
Incontinentia Pigmenti
Conical tooth, Short stature, Delayed eruption of teeth, Hypodontia, Supernumerary ribs, Oligodon... OMIM:308300
Maxillonasal Dysplasia
Vertebral clefting, Abnormal nostril morphology, Patchy distortion of vertebrae, Depressed nasal ... ORPHA:1248
Cooper-Jabs Syndrome
Camptodactyly of finger, Short stature, Missing ribs, Anteriorly placed anus, Scoliosis, Joint hy... ORPHA:1488
Cat-Eye Syndrome
Short stature, Hip dysplasia, Anal atresia, Abnormal rib morphology, Intrauterine growth retardat... ORPHA:195
Muscular Dystrophy-Dystroglycanopathy (Congenital With Or Without Impaired Intellectual Development), Type B, 5
Hyperlordosis, Vertebral fusion, Kyphosis, Achilles tendon contracture, Elbow contracture, Macrog... OMIM:606612
Faciodigitogenital Syndrome, Autosomal Recessive
Camptodactyly, Pectus excavatum, Metatarsus adductus, Proportionate short stature, Vertebral fusi... OMIM:227330
Kuskokwim Syndrome
Abnormal clavicle morphology, Aplasia/Hypoplasia of the radius, Scoliosis, Abnormal form of the v... ORPHA:1149
Congenital Tufting Enteropathy
Elevated fecal osmolality, Villous atrophy, Abnormal large intestinal mucosa morphology, Malabsor... ORPHA:92050
Atelosteogenesis, Type Iii
Horizontal sacrum, Rhizomelia, Radial bowing, Tombstone-shaped proximal phalanges, Cervical kypho... OMIM:108721
Antley-Bixler Syndrome Without Genital Anomalies Or Disordered Steroidogenesis
Choanal stenosis, Flexion contracture, Long philtrum, Humeroradial synostosis, Coronal craniosyno... OMIM:207410
Pfeiffer Syndrome Type 2
Hallux varus, High palate, Finger syndactyly, Small hand, Toe syndactyly, Anal atresia, Limitatio... ORPHA:93259
Fanconi Anemia
Abnormal testis morphology, Toe syndactyly, Hip dislocation, Cleft palate, Thrombocytopenia, Apla... ORPHA:84
Ossification Anomalies-Psychomotor Developmental Delay Syndrome
Short 5th finger, Recurrent aspiration pneumonia, Abnormal thorax morphology, Elevated hepatic tr... ORPHA:73230
Developmental And Epileptic Encephalopathy 85 With Or Without Midline Brain Defects
Tapered finger, Camptodactyly, Broad hallux, Smooth philtrum, Cleft palate, Choanal atresia, Hip ... OMIM:301044
Brachytelephalangic Chondrodysplasia Punctata
Vertebral hypoplasia, Stippling of the epiphyses of the distal phalanges of the hand, Epiphyseal ... ORPHA:79345
Osteoarthritis With Mild Chondrodysplasia
Irregular vertebral endplates, Short stature, Hip osteoarthritis, Heberden's node, Platyspondyly,... OMIM:604864
Autosomal Recessive Robinow Syndrome
Camptodactyly of finger, Bifid tongue, Ectopic anus, Wide nasal bridge, Toe syndactyly, Elbow dis... ORPHA:1507
Orofaciodigital Syndrome Xviii
Urinary incontinence, Genu valgum, Wide nasal bridge, Short stature, Short philtrum, Diastema, Ce... OMIM:617927
Gm1 Gangliosidosis Type 1
Flattened femoral head, Flared iliac wing, Hypoplastic vertebral bodies, Hepatosplenomegaly, Ging... ORPHA:79255
Osteogenesis Imperfecta, Type Xix
Dentinogenesis imperfecta, Biconcave vertebral bodies, Recurrent fractures, Rhizomelia, Bowing of... OMIM:301014
Lateral Meningocele Syndrome
Meningocele, Biconcave vertebral bodies, Vertebral fusion, High palate, Long philtrum, Kyphosis, ... OMIM:130720
Desbuquois Dysplasia 2
Short phalanx of finger, Advanced ossification of carpal bones, Coxa valga, Bifid uvula, Hip disl... OMIM:615777
Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency
Short stature, Delayed eruption of teeth, Clinodactyly, Clinodactyly of the 5th finger, Severe in... ORPHA:73272
Aminopterin Syndrome Sine Aminopterin
Arachnodactyly, High palate, Joint contracture of the hand, Short stature, Oligodontia, Rudimenta... OMIM:600325
Pelvis-Shoulder Dysplasia
Camptodactyly of finger, Aplasia/hypoplasia of the femur, Dislocated radial head, Cleft palate, A... ORPHA:2839
Mucopolysaccharidosis, Type Iiia
Ovoid thoracolumbar vertebrae, Thickened ribs, Dense calvaria, Recurrent upper respiratory tract ... OMIM:252900
Blomstrand Lethal Chondrodysplasia
Polyhydramnios, Increased bone mineral density, Pulmonary hypoplasia, Short thorax, Short ribs, A... ORPHA:50945
Craniodiaphyseal Dysplasia, Autosomal Dominant
Thickened ribs, Choanal stenosis, Wide nasal bridge, Short stature, Craniofacial osteosclerosis, ... OMIM:122860
Maxillonasal Dysplasia, Binder Type
Vertebral clefting, Dental malocclusion, Patchy distortion of vertebrae, Short nose, Short colume... OMIM:155050
Treacher-Collins Syndrome
Hypoplasia of the thymus, Wide nasal bridge, Thyroid hypoplasia, Tooth agenesis, Abnormality of b... ORPHA:861
Atelosteogenesis Type Ii
Short phalanx of finger, Polyhydramnios, Thoracic hypoplasia, Elbow flexion contracture, Camptoda... ORPHA:56304
Wolf-Hirschhorn Syndrome
Periventricular cysts, Convex nasal ridge, Wide nasal bridge, Hip dislocation, Biliary tract abno... OMIM:194190
Radio-Renal Syndrome
Multicystic kidney dysplasia, Convex nasal ridge, Abnormality of the elbow, Hypoplasia of the rad... ORPHA:3015
Acyl-Coa Dehydrogenase, Medium-Chain, Deficiency Of
Cerebral edema, Elevated hepatic transaminase, Hepatic steatosis, Hepatomegaly, Hyperglycinuria, ... OMIM:201450
Codas Syndrome
Short metacarpal, Delayed eruption of teeth, Extrahepatic biliary duct atresia, Hydroureter, Abno... ORPHA:1458
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly
Horizontal ribs, Thoracic hypoplasia, Bifid tongue, Lateral clavicle hook, Cleft palate, Short ri... OMIM:613091
Intellectual Developmental Disorder With Cardiac Defects And Dysmorphic Facies
Wide nasal bridge, Pulmonary hypoplasia, Pectus excavatum, Overlapping toe, Smooth philtrum, Cuta... OMIM:618316
Charge Syndrome
Polyhydramnios, Gonadotropin deficiency, Parathyroid hypoplasia, Hypoparathyroidism, Dysphagia, A... OMIM:214800
Camptodactyly-Joint Contractures-Facial Skeletal Defects Syndrome
Camptodactyly of finger, Hyperlordosis, Narrow palate, Finger syndactyly, Short stature, Vertebra... ORPHA:1323
Meckel Syndrome, Type 8
Polydactyly, Cleft upper lip, Encephalocele, Depressed nasal ridge, Pericardial effusion, Enlarge... OMIM:613885
Lethal Kniest-Like Dysplasia
Polyhydramnios, Anterior rib cupping, Abnormality of the ischium, Hypoplastic ilia, Short ribs, M... ORPHA:2347
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly
Horizontal ribs, Thoracic dysplasia, Pulmonary hypoplasia, Median cleft lip, Lateral clavicle hoo... OMIM:263520
Simpson-Golabi-Behmel Syndrome
Camptodactyly of finger, Polyhydramnios, Wide nasal bridge, Toe syndactyly, Supernumerary nipple,... ORPHA:373
Hyperglycinemia, Lactic Acidosis, And Seizures
Cerebral edema, Growth delay, Microcephaly, Cerebral atrophy, Joint contracture OMIM:614462
Phocomelia-Ectrodactyly, Ear Malformation, Deafness, And Sinus Arrhythmia
Shoulder dislocation, Genu varum, Aplasia/Hypoplasia of the thumb, Long philtrum, Short stature, ... OMIM:171480
Diabetic Embryopathy
Spinal dysraphism, Aplasia/Hypoplasia of the corpus callosum, Abnormality of the pancreas, Verteb... ORPHA:1926
Hypophosphatasia, Infantile
Vertebral clefting, Polyhydramnios, Unossified vertebral bodies, Rachitic rosary, Increased susce... OMIM:241500
Microcephaly, Short Stature, And Impaired Glucose Metabolism 2
Hyperlordosis, Increased vertebral height, Short stature, Oligodontia, Abnormal vertebral morphol... OMIM:616817
Hypochondroplasia
Genu varum, Hyperlordosis, Short toe, Abnormality of the elbow, Osteoarthritis, Spinal canal sten... ORPHA:429
Cerebrofacioarticular Syndrome
Irregular dentition, Bilateral choanal atresia/stenosis, Wide nasal bridge, Lymphedema, Short sta... ORPHA:314679
Short-Rib Thoracic Dysplasia 17 With Or Without Polydactyly
Horizontal ribs, Short stature, Short ribs, Postaxial foot polydactyly, Postaxial hand polydactyl... OMIM:617405
Mucopolysaccharidosis, Type Iiic
Ovoid thoracolumbar vertebrae, Thickened ribs, Dense calvaria, Everted lower lip vermilion, Kypho... OMIM:252930
Silver-Russell Syndrome Due To A Point Mutation
Polydactyly, Short 5th finger, Microphallus, Small placenta, Clinodactyly of the 5th finger, Olig... ORPHA:397590
Bruck Syndrome 1
Knee flexion contracture, Increased susceptibility to fractures, Protrusio acetabuli, Hip contrac... OMIM:259450
Opsismodysplasia
Short phalanx of finger, Polyhydramnios, Severe platyspondyly, Hypoplastic vertebral bodies, Shor... OMIM:258480
Distal Monosomy 10P
Non-midline cleft lip, Convex nasal ridge, Abnormality of the elbow, Ectopic anus, Wide nasal bri... ORPHA:1580
Caudal Duplication
Myelomeningocele, Spina bifida, Vertebral segmentation defect, Abnormal sacrum morphology, Intest... ORPHA:1756
Three M Syndrome 3
Hyperlordosis, Short thorax, Increased vertebral height, Long philtrum, Short stature, Hip dyspla... OMIM:614205
Seckel Syndrome 1
Convex nasal ridge, Selective tooth agenesis, Elbow flexion contracture, Hip dislocation, Disloca... OMIM:210600
Chst3-Related Skeletal Dysplasia
Genu valgum, Flexion contracture, Intervertebral space narrowing, Abnormality of the elbow, Long ... ORPHA:263463
Mitochondrial Complex Iv Deficiency, Nuclear Type 22
3-hydroxydicarboxylic aciduria, Cerebral edema, Hepatic failure, Ketonuria, Increased urine alpha... OMIM:619355
Fryns Syndrome
Polyhydramnios, Thoracic hypoplasia, Wide nasal bridge, Camptodactyly, Pulmonary hypoplasia, Shor... OMIM:229850
Bent Bone Dysplasia Syndrome 2
Short tibia, Hypoplastic acetabulae, Butterfly vertebrae, Short neck, Hepatomegaly, Arthrogryposi... OMIM:620076
Holt-Oram Syndrome
Triphalangeal thumb, Absent thumb, Finger syndactyly, Kyphosis, Abnormality of the humerus, Abnor... ORPHA:392
Spondyloperipheral Dysplasia-Short Ulna Syndrome
Short metatarsal, Limited elbow extension, Flattened femoral head, Abnormal hip joint morphology,... ORPHA:1856
Kagami-Ogata Syndrome
Coat hanger sign of ribs, Bell-shaped thorax, Polyhydramnios, Thoracic hypoplasia, Coxa valga, Li... ORPHA:254519
Citrullinemia Type Ii
Cerebral edema, Hepatic fibrosis, Hepatocellular carcinoma, Elevated hepatic transaminase, Hepati... ORPHA:247585
Cole-Carpenter Syndrome
Crumpled long bones, Recurrent fractures, Kyphosis, Delayed eruption of teeth, Short stature, Wor... ORPHA:2050
Short Stature And Facioauriculothoracic Malformations
Cleft upper lip, High palate, Pectus excavatum, Cervical ribs, Short neck, Microcephaly, Cleft pa... OMIM:609654
Mandibulofacial Dysostosis, Guion-Almeida Type
Preaxial hand polydactyly, Deep philtrum, Esophageal atresia, Short stature, Short nose, Progress... OMIM:610536
Infantile-Onset X-Linked Spinal Muscular Atrophy
Knee flexion contracture, Abnormal periventricular white matter morphology, Hip contracture, High... ORPHA:1145
Solitary Median Maxillary Central Incisor
Cleft upper lip, Abnormal nasopharynx morphology, Decreased response to growth hormone stimulatio... OMIM:147250
X-Linked Intellectual Disability-Dysmorphism-Cerebral Atrophy Syndrome
Abnormal number of incisors, Coxa valga, Prominent nose, Patellar subluxation, Supernumerary ribs... ORPHA:2958
Fanconi Anemia, Complementation Group B
Absent thumb, Esophageal atresia, Bilateral radial aplasia, Abnormal lung lobation, Single umbili... OMIM:300514
Johnson Neuroectodermal Syndrome
Preaxial hand polydactyly, Hand polydactyly, Everted lower lip vermilion, Severe short stature, A... ORPHA:2316
Fetal Alcohol Syndrome
Non-midline cleft lip, Short stature, Vertebral segmentation defect, Microdontia, Short nose, Thi... ORPHA:1915
Spondyloepimetaphyseal Dysplasia, Missouri Type
Irregular sclerotic endplates, Genu varum, Flared, irregular rib ends, Metaphyseal cupping, Pear-... OMIM:602111
Fetal Akinesia Deformation Sequence
Camptodactyly of finger, Polyhydramnios, Fetal akinesia sequence, Multiple joint contractures, In... ORPHA:994
Spondyloepimetaphyseal Dysplasia, Shohat Type
Vertebral hypoplasia, Short neck, Hepatomegaly, Narrow greater sciatic notch, Splenomegaly, Lumba... OMIM:602557
Epiphyseal Dysplasia, Multiple, With Early-Onset Diabetes Mellitus
Hip subluxation, Reduced pancreatic beta cells, Coxa valga, Irregular carpal bones, Hip dislocati... OMIM:226980
Aicardi Syndrome
Butterfly vertebrae, Hepatoblastoma, Cleft palate, Polymicrogyria, Block vertebrae, Hip dysplasia... ORPHA:50
Placental Insufficiency
Abnormal umbilical cord blood vessel morphology, Maternal hypertension, Preeclampsia, Abnormal lu... ORPHA:439167
Dyggve-Melchior-Clausen Disease
Camptodactyly, Short neck, Flat glenoid fossa, Beaking of vertebral bodies, Narrow greater sciati... OMIM:223800
Mitochondrial Complex I Deficiency, Nuclear Type 20
Cerebral edema, Hepatic failure, Microvesicular hepatic steatosis, Elevated hepatic transaminase,... OMIM:611126
Dysosteosclerosis
Short diaphyses, Delayed closure of the anterior fontanelle, Delayed eruption of teeth, Sclerotic... OMIM:224300
Kilquist Syndrome
Midgut malrotation, 2-3 toe syndactyly, Gastroesophageal reflux, Coxa valga, Wide mouth, Intestin... OMIM:619080
Orofaciodigital Syndrome Xi
Gastroesophageal reflux, Wide nasal bridge, Hypoplasia of the odontoid process, Kyphoscoliosis, C... OMIM:612913
Cutis Gyrata-Acanthosis Nigricans-Craniosynostosis Syndrome
Abnormality of the pancreas, Narrow palate, Anteriorly placed anus, Depressed nasal bridge, Narro... ORPHA:1555
Mosaic Trisomy 1
Camptodactyly of finger, Polyhydramnios, Renal cortical cysts, Wide nasal bridge, 2-3 finger synd... ORPHA:1692
Smith-Mccort Dysplasia 1
Short phalanx of finger, Genu varum, Genu valgum, Hypoplastic acetabulae, Delayed femoral head os... OMIM:607326
Beare-Stevenson Cutis Gyrata Syndrome
Choanal stenosis, Narrow palate, High palate, Natal tooth, Craniosynostosis, Prominent nasal brid... OMIM:123790
Thin Ribs-Tubular Bones-Dysmorphism Syndrome
Slender long bone, Abnormal pelvic girdle bone morphology, Abnormal palate morphology, Abnormal r... ORPHA:1506
Crane-Heise Syndrome
Aplasia/Hypoplasia of the corpus callosum, Aplastic clavicle, Finger syndactyly, Toe syndactyly, ... ORPHA:1512
Radial Ray Hypoplasia With Choanal Atresia
Choanal stenosis, Hypoplasia of the radius, Depressed nasal bridge, Distally placed thumb, Short ... OMIM:179270
Lung Agenesis-Heart Defect-Thumb Anomalies Syndrome
Triphalangeal thumb, Preaxial hand polydactyly, Aplasia/Hypoplasia of the lungs, Vertebral segmen... ORPHA:1120
Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome Due To 10P11.21P12.31 Microdeletion
Short nose, Celiac disease, Depressed nasal bridge, Absent cupid's bow, Hypoplasia of the corpus ... ORPHA:284169
X-Linked Intellectual Disability-Global Development Delay-Facial Dysmorphism-Sacral Caudal Remnant Syndrome
High palate, Abnormal sacral segmentation, Long philtrum, Joint hypermobility, Thin upper lip ver... ORPHA:480907
Temple Syndrome Due To Maternal Uniparental Disomy Of Chromosome 14
Wide nose, High palate, Small hand, Short stature, Pyloric stenosis, Bifid uvula, Short philtrum,... ORPHA:96184
Neu-Laxova Syndrome 1