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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
Choanal atresia, Unilateral renal agenesis, Wide nose, Butterfly vertebrae, Submucous cleft hard ... 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
Chronic kidney disease, Depressed nasal bridge, Rhizomelia, Unilateral renal agenesis, Renal hypo... OMIM:617661
Spondylocostal Dysostosis 1, Autosomal Recessive
Severe short stature, Block vertebrae, Abnormal odontoid process morphology, Kyphoscoliosis, Rib ... OMIM:277300
Spondylocostal Dysostosis 2, Autosomal Recessive
Vertebral segmentation defect, Rib fusion, Short neck, Disproportionate short-trunk short stature... OMIM:608681
Radioulnar Synostosis-Microcephaly-Scoliosis Syndrome
Pectus carinatum, Abnormality of the dentition, Finger syndactyly, Delayed skeletal maturation, M... ORPHA:3268
Microcephaly-Cervical Spine Fusion Anomalies Syndrome
Abnormal reticulocyte morphology, Abnormal clavicle morphology, Abnormality of the ureter, Abnorm... ORPHA:2522
Imperforate Oropharynx-Costovertebral Anomalies Syndrome
Wide nasal bridge, Choanal atresia, Abnormal form of the vertebral bodies, Aplasia/Hypoplasia of ... ORPHA:2759
Isolated Klippel-Feil Syndrome
Abnormality of the vertebral column, Abnormal shoulder morphology, Cervical C2/C3 vertebral fusio... ORPHA:2345
Verheij Syndrome
Branchial cyst, Clinodactyly, Short neck, Hip dislocation, Short nose, Short 5th finger, Broad na... OMIM:615583
Phosphoribosylaminoimidazole Carboxylase Deficiency
Lumbar hemivertebrae, Choanal atresia, Depressed nasal bridge, Bilateral choanal atresia, Bilater... OMIM:619859
Spondylocostal Dysostosis 5
Severe short stature, Pectus carinatum, Butterfly vertebrae, Missing ribs, Low back pain, Short n... OMIM:122600
Hydrocephalus-Costovertebral Dysplasia-Sprengel Anomaly Syndrome
Wide nasal bridge, Depressed nasal bridge, Abnormal form of the vertebral bodies, Sandal gap, Abn... ORPHA:2180
Acro-Renal-Mandibular Syndrome
Thin ribs, Hypoplastic scapulae, Finger syndactyly, Rudimentary fibula, Short neck, Sprengel anom... ORPHA:958
Dysostosis Multiplex, Ain-Naz Type
Severe short stature, Elongated femoral neck, Hypoplastic iliac wing, Wide humerus, Glenoid fossa... OMIM:619345
Sprengel Deformity
Rib segmentation abnormalities, Sprengel anomaly, Hemivertebrae, Spina bifida occulta, Cervical s... OMIM:184400
Klippel-Feil Syndrome 2, Autosomal Recessive
Cleft upper lip, Cervical C2/C3 vertebral fusion, Short neck, Sprengel anomaly, Scoliosis, Cleft ... OMIM:214300
Autosomal Dominant Spondylocostal Dysostosis
Severe short stature, Wide nasal bridge, Short thorax, Intrauterine growth retardation, Anteverte... ORPHA:1797
Spondylocostal Dysostosis 4, Autosomal Recessive
Block vertebrae, Anal stenosis, Myelomeningocele, Abnormal odontoid process morphology, Bell-shap... OMIM:613686
Christian Syndrome
Wide nasal bridge, Thoracic hemivertebrae, Prominent metopic ridge, Short stature, Anal atresia, ... OMIM:309620
X-Linked Skeletal Dysplasia-Intellectual Disability Syndrome
Thoracic hemivertebrae, Brachydactyly, Short stature, Anal atresia, Abnormal sacrum morphology, S... ORPHA:1436
Bresek Syndrome
Renal hypoplasia, Decreased testicular size, Intrauterine growth retardation, Vesicoureteral refl... ORPHA:85284
Kniest Dysplasia
Delayed epiphyseal ossification, Enlarged metaphyses, Hypoplasia of the odontoid process, Abnorma... ORPHA:485
Ritscher-Schinzel Syndrome 1
Depressed nasal bridge, Decreased response to growth hormone stimulation test, Intrauterine growt... OMIM:220210
Cerebrofaciothoracic Dysplasia
Cerebral cortical atrophy, Narrow chest, Cleft upper lip, Wide mouth, Polyhydramnios, Hypoplasia ... ORPHA:1394
Male Hypergonadotropic Hypogonadism-Intellectual Disability-Skeletal Anomalies Syndrome
Abnormal form of the vertebral bodies, Abnormality of the humeroulnar joint, Decreased testicular... ORPHA:2234
Distal Duplication 18Q
Progressive intervertebral space narrowing, Choanal atresia, Carious teeth, Deviation of finger, ... ORPHA:1716
Vertebral, Cardiac, Tracheoesophageal, Renal, And Limb Defects
Choanal atresia, Unilateral renal agenesis, Wide nose, Butterfly vertebrae, Submucous cleft hard ... OMIM:619227
Atelosteogenesis, Type I
Elbow dislocation, Radial bowing, Fibular aplasia, Bell-shaped thorax, Encephalocele, Cryptorchid... OMIM:108720
Braddock Syndrome
Unilateral renal agenesis, Preaxial hand polydactyly, Intrauterine growth retardation, Missing ri... ORPHA:52047
Klippel-Feil Syndrome 4, Autosomal Recessive, With Nemaline Myopathy And Facial Dysmorphism
Underdeveloped nasal alae, Long philtrum, Bulbous nose, Acetabular dysplasia, Cervical C2/C3 vert... OMIM:616549
Contractures, Pterygia, And Spondylocarpotarsal Fusion Syndrome 1A
Carpal synostosis, Cutaneous finger syndactyly, Barrel-shaped chest, Hip contracture, Short neck,... OMIM:178110
Poland Syndrome
Short ribs, Rib fusion, Unilateral oligodactyly, Sprengel anomaly, Hemivertebrae, Unilateral brac... OMIM:173800
Diaphanospondylodysostosis
Enlarged thorax, Myelomeningocele, Absent or minimally ossified vertebral bodies, Missing ribs, S... ORPHA:66637
Frontometaphyseal Dysplasia 1
Broad phalanges of the hand, Partial fusion of carpals, Carpal synostosis, Genu valgum, Limited e... OMIM:305620
3C Syndrome
Finger syndactyly, Postnatal growth retardation, Short neck, Anal atresia, Hypospadias, Short nos... ORPHA:7
Osteoglosphonic Dysplasia
Severe short stature, Choanal atresia, Rhizomelia, Abnormal clavicle morphology, Abnormal form of... ORPHA:2645
Multiple Pterygium Syndrome, X-Linked
Thin ribs, Depressed nasal ridge, Joint dislocation, Cleft upper lip, Short finger, Intrauterine ... OMIM:312150
Mosaic Trisomy 9
Limitation of joint mobility, Elbow dislocation, Cryptorchidism, Short neck, High palate, Hip dis... ORPHA:99776
Intellectual Developmental Disorder With Dysmorphic Facies And Ptosis
Wide nasal bridge, Reduced cerebral white matter volume, Downturned corners of mouth, Long philtr... OMIM:617333
Cornelia De Lange Syndrome 4 With Or Without Midline Brain Defects
Velopharyngeal insufficiency, Radioulnar synostosis, Vertebral clefting, Short nose, Syndactyly, ... OMIM:614701
Klippel-Feil Syndrome 1, Autosomal Dominant
Unilateral renal agenesis, Cervical C2/C3 vertebral fusion, Short neck, Sprengel anomaly, Abnorma... OMIM:118100
Multiple Pterygium Syndrome, Escobar Variant
Intercrural pterygium, Dysplastic patella, Cryptorchidism, Patellar aplasia, Narrow mouth, Arachn... OMIM:265000
Intellectual Disability-Facial Dysmorphism-Hand Anomalies Syndrome
Short distal phalanx of finger, Broad nasal tip, Short distal phalanx of the thumb, Broad thumb, ... ORPHA:370010
Brachydactyly, Type B1
Joint contracture of the hand, Broad thumb, Hypoplastic sacrum, Delayed cranial suture closure, A... OMIM:113000
Trigonocephaly 1
Wide nasal bridge, Lumbar hemivertebrae, High, narrow palate, Long penis, Meckel diverticulum, Lo... OMIM:190440
Cenani-Lenz Syndactyly Syndrome
Renal hypoplasia, Broad hallux, Radioulnar synostosis, Hypodontia, Enamel hypoplasia, Ectopic kid... OMIM:212780
Pallister-Hall Syndrome
Toe syndactyly, Postaxial foot polydactyly, Natal tooth, Cryptorchidism, Neonatal death, Micropen... OMIM:146510
Spondylometaphyseal Dysplasia, Corner Fracture Type
Pectus carinatum, Metaphyseal irregularity, Hypoplasia of the odontoid process, Short femoral nec... OMIM:184255
Spondylocostal Dysostosis With Anal Atresia And Urogenital Anomalies
Thin ribs, Block vertebrae, Supernumerary vertebrae, Oligohydramnios, Short ribs, Missing ribs, R... OMIM:271520
Congenital Absence Of Upper Arm And Forearm With Hand Present
Abnormality of the vertebral column, Abnormal hip bone morphology, Abnormal thorax morphology, Po... ORPHA:294975
Lenz-Majewski Hyperostotic Dwarfism
Delayed cranial suture closure, Cutaneous finger syndactyly, Cryptorchidism, Humeroradial synosto... OMIM:151050
Al Kaissi Syndrome
Wide nasal bridge, Depressed nasal bridge, High, narrow palate, Broad nasal tip, Small hand, Clin... OMIM:617694
Metatropic Dysplasia
Severe short stature, Depressed nasal bridge, Narrow chest, Hypoplastic cervical vertebrae, Abnor... ORPHA:2635
Vitamin K Antagonist Embryofetopathy
Choanal atresia, Depressed nasal bridge, Short distal phalanx of finger, Myelomeningocele, Intrau... ORPHA:1914
Intellectual Developmental Disorder, Autosomal Dominant 52
Depressed nasal bridge, Pectus carinatum, Downturned corners of mouth, Bilateral cryptorchidism, ... OMIM:617796
Chronic Recurrent Multifocal Osteomyelitis 2, With Periostitis And Pustulosis
Osteopenia, Fetal distress, Broad ribs, Osteomyelitis, Splenomegaly, Joint swelling, Flaring of r... OMIM:612852
Spondylocostal Dysostosis 6, Autosomal Recessive
Cervical kyphosis, Spinal canal stenosis, Butterfly vertebrae, Hemivertebrae, Scoliosis OMIM:616566
Becker Nevus Syndrome
Cervical ribs, Hemivertebrae, Unilateral breast hypoplasia, Pectus excavatum, Scoliosis OMIM:604919
Lamb-Shaffer Syndrome
Broad nasal tip, Thick vermilion border, Mild postnatal growth retardation, Microcephaly, Fused c... ORPHA:530983
Acromesomelic Dysplasia, Maroteaux Type
Depressed nasal bridge, Disproportionate short stature, Vertebral wedging, Abnormal form of the v... ORPHA:40
Kbg Syndrome
Cryptorchidism, Short neck, Widely-spaced maxillary central incisors, Delayed skeletal maturation... ORPHA:2332
Klippel-Feil Syndrome 3, Autosomal Dominant
Cervical C5/C6 vertebrae fusion, Cervical C3/C4 vertebral fusion, Thoracic scoliosis OMIM:613702
Multiple Pterygium Syndrome, Lethal Type
Thin ribs, Depressed nasal ridge, Joint dislocation, Short finger, Intrauterine growth retardatio... OMIM:253290
Metatropic Dysplasia
Epiphyseal dysplasia, Hypoplasia of the odontoid process, Caudal appendage, Genu valgum, Dispropo... OMIM:156530
Diamond-Blackfan Anemia 7
Choanal atresia, Osteopenia, Increased mean corpuscular volume, Short thumb, Fetal distress, Hors... OMIM:612562
Thrombocytopenia-Absent Radius Syndrome
Broad thumb, Finger syndactyly, Fibular aplasia, Aplasia/Hypoplasia of the patella, Aplasia/Hypop... ORPHA:3320
Meier-Gorlin Syndrome 1
Thin ribs, Joint contracture of the hand, Small hand, Elbow dislocation, Cutaneous finger syndact... OMIM:224690
Autoimmune Disease, Multisystem, With Facial Dysmorphism
Clinodactyly, Pancytopenia, Hypersplenism, Hepatomegaly, Thoracic kyphoscoliosis, Choanal atresia... OMIM:613385
Contractures, Pterygia, And Spondylocarpotarsal Fusion Syndrome 1B
Flexion contracture, Short neck, Fused thoracic vertebrae, Antecubital pterygium, Tarsal synostos... OMIM:618469
Oculogastrointestinal Neurodevelopmental Syndrome
Horseshoe kidney, Microcephaly, Hemivertebrae, Short stature, Anal atresia, Low hanging columella... OMIM:619318
Acrocraniofacial Dysostosis
Broad thumb, Genu valgum, Choanal atresia, Ulnar deviation of finger, Short 1st metacarpal, Triph... ORPHA:949
Acrorenal-Mandibular Syndrome
Thin ribs, Hypoplastic scapulae, Toe syndactyly, Abnormal sacral segmentation, Rudimentary fibula... OMIM:200980
Autosomal Recessive Spondylocostal Dysostosis
Finger syndactyly, Abnormality of the ureter, Cryptorchidism, Short neck, Hypospadias, Vertebral ... ORPHA:2311
Ring Chromosome 21 Syndrome
Small hand, Clinodactyly, Thoracic hemivertebrae, Abnormal thorax morphology, Microcephaly, Fused... ORPHA:1445
Juberg-Hayward Syndrome
Severe short stature, Abnormal vertebral morphology, Hypospadias, Toe syndactyly, Short thumb, An... ORPHA:2319
Diaphanospondylodysostosis
Bell-shaped thorax, Decreased skull ossification, Short neck, Disproportionate short-trunk short ... OMIM:608022
Craniofacial Dysmorphism, Skeletal Anomalies, And Impaired Intellectual Development Syndrome 1
Supernumerary nipple, Postnatal growth retardation, Overlapping toe, Hypoplasia of the corpus cal... OMIM:213980
Postaxial Polydactyly-Dental And Vertebral Anomalies Syndrome
Patellar dislocation, Abnormal form of the vertebral bodies, Elbow dislocation, Abnormal dental e... ORPHA:2916
Anophthalmia Plus Syndrome
Tessier cleft, Choanal atresia, Deviation of finger, Bilateral cleft palate, Vertebral segmentati... ORPHA:1104
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome
Abnormal vertebral morphology, Hypospadias, 11 pairs of ribs, Cryptorchidism, Agenesis of corpus ... ORPHA:77298
Femoral-Facial Syndrome
Aplasia/Hypoplasia of the tibia, Aplasia/Hypoplasia of the corpus callosum, Cryptorchidism, Radio... ORPHA:1988
Diastrophic Dysplasia
Hypoplastic cervical vertebrae, Elbow dislocation, Cerebral calcification, Cryptorchidism, Bowing... ORPHA:628
Heart Defects-Limb Shortening Syndrome
Narrow chest, Disproportionate short stature, Abnormal form of the vertebral bodies, Mesomelic/rh... ORPHA:1354
Atelosteogenesis, Type Ii
Increased intervertebral space, Short neck, Short greater sciatic notch, Flat acetabular roof, Ce... OMIM:256050
Basal Cell Nevus Syndrome 1
Short distal phalanx of the thumb, Sprengel anomaly, Vertebral wedging, Calcification of falx cer... OMIM:109400
Robinow Syndrome, Autosomal Recessive 1
Bifid distal phalanx of toe, Small hand, Broad thumb, Clinodactyly, Radial bowing, Thoracic hemiv... OMIM:268310
Intellectual Developmental Disorder, Autosomal Dominant 1
Secondary microcephaly, Postnatal growth retardation, Open mouth, Everted lower lip vermilion, Sh... OMIM:156200
Spondylometaphyseal Dysplasia, Type A4
Sclerotic humeral metaphysis, Broad ischia, Irregular capital femoral epiphysis, Flat acetabular ... OMIM:609052
Gapo Syndrome
Decreased skull ossification, Everted lower lip vermilion, Choanal atresia, Delayed skeletal matu... ORPHA:2067
Mosaic Trisomy 14
Wide nasal bridge, Narrow chest, Camptodactyly of finger, Anteverted nares, Prominent nasal bridg... ORPHA:1703
Postaxial Acrofacial Dysostosis
Choanal atresia, Congenital hip dislocation, Conical tooth, Supernumerary vertebrae, Short thumb,... OMIM:263750
Axial Mesodermal Dysplasia Spectrum
Abnormality of the spleen, Abnormality of the ureter, Abnormal gastrointestinal tract morphology,... ORPHA:1834
Gorlin Syndrome
Wide nasal bridge, Abnormal vertebral morphology, Carious teeth, Vertebral wedging, Cerebral calc... ORPHA:377
Mesomelic Dwarfism-Cleft Palate-Camptodactyly Syndrome
Abnormal epiphysis morphology, Elbow dislocation, Abnormal lung lobation, Camptodactyly of finger... ORPHA:2631
Apert Syndrome
Delayed epiphyseal ossification, Lambdoidal craniosynostosis, Broad thumb, Synostosis of carpal b... OMIM:101200
Amastia, Bilateral, With Ureteral Triplication And Dysmorphism
Wide nasal bridge, Depressed nasal bridge, Congenital hip dislocation, Absent nipple, Umbilical h... OMIM:104350
Spinal Dysplasia, Anhalt Type
Thoracic hemivertebrae, Narrow anterio-posterior vertebral body diameter, Osteoarthritis of the s... OMIM:601344
X-Linked Intellectual Disability, Snyder Type
Narrow mouth, Cryptorchidism, Arachnodactyly, Everted lower lip vermilion, Cerebral edema, High p... ORPHA:3063
Craniodiaphyseal Dysplasia, Autosomal Dominant
Wide nasal bridge, Depressed nasal bridge, Craniofacial osteosclerosis, Cortical sclerosis, Diaph... OMIM:122860
Fg Syndrome Type 1
Finger syndactyly, Clinodactyly of the 2nd finger, Aplasia/Hypoplasia of the corpus callosum, Ope... ORPHA:93932
Poland Syndrome
Acute leukemia, Small hand, Ureterocele, Finger syndactyly, Aplasia/Hypoplasia of the sternum, En... ORPHA:2911
Spondylocostal Dysostosis 3, Autosomal Recessive
Slender finger, Hypoplasia of the odontoid process, Contracture of the proximal interphalangeal j... OMIM:609813
Zttk Syndrome
Small hand, Absent gallbladder, Narrow mouth, Hypoplasia of the corpus callosum, Breech presentat... OMIM:617140
Microform Holoprosencephaly
Choanal atresia, Panhypopituitarism, Intrauterine growth retardation, Narrow nasal bridge, Anteve... ORPHA:280200
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome
Thin ribs, Postnatal growth retardation, Contracture of the distal interphalangeal joint of the f... ORPHA:83617
Ehlers-Danlos Syndrome, Classic-Like, 2
Osteopenia, Squared iliac bones, Umbilical hernia, Shoulder dislocation, Knee dislocation, Crypto... OMIM:618000
Achondroplasia
Radial bowing, Narrow vertebral interpedicular distance, Genu varum, Megalencephaly, Premature ru... OMIM:100800
Multinucleated Neurons, Anhydramnios, Renal Dysplasia, Cerebellar Hypoplasia, And Hydranencephaly
Hydranencephaly, Renal hypoplasia, Ureteral agenesis, Bulbous nose, Anteverted nares, Oligohydram... OMIM:236500
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14
Hypoplastic scapulae, Abnormality of the costochondral junction, Short tibia, Thumb contracture, ... ORPHA:96334
Cardioneuromyopathy With Hyaline Masses And Nemaline Rods
Fusion of midcervical facet joints, Widening of cervical spinal canal, Cervical vertebral bodies ... OMIM:606842
Greenberg Dysplasia
Fractured rib, Postaxial foot polydactyly, Supernumerary vertebral ossification centers, Hepatosp... OMIM:215140
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type
Decreased fibular diameter, Decreased skull ossification, Short neck, Multiple prenatal fractures... OMIM:616897
Proximal 16P11.2 Microduplication Syndrome
Arachnodactyly, Microcephaly, Thin upper lip vermilion, Smooth philtrum, Micropenis, Hemivertebra... ORPHA:370079
Gordon Syndrome
Limitation of joint mobility, Finger syndactyly, Camptodactyly of finger, Clinodactyly of the 5th... ORPHA:376
Fanconi Anemia, Complementation Group I
Bone marrow hypocellularity, Renal hypoplasia, Absent thumb, Short 1st metacarpal, Short thumb, D... OMIM:609053
Raine Syndrome
Natal tooth, Long hallux, Cerebral calcification, Narrow mouth, Protruding tongue, Neonatal death... OMIM:259775
Fetal Akinesia Deformation Sequence 1
Thin ribs, Narrow mouth, Cryptorchidism, Hip contracture, Short neck, Elbow ankylosis, High palat... OMIM:208150
Bryant-Li-Bhoj Neurodevelopmental Syndrome 2
Gastroesophageal reflux, Broad thumb, Prominent fingertip pads, Long philtrum, Thoracic hemiverte... OMIM:619721
Duane-Radial Ray Syndrome
Aplasia of metacarpal bones, Absent radius, Abnormal nasopharynx morphology, Anal atresia, Syndac... OMIM:607323
Chondrodysplasia Punctata 2, X-Linked Dominant
Rhizomelia, Abnormal pelvic girdle bone morphology, Postnatal growth retardation, Punctate verteb... OMIM:302960
Fibrodysplasia Ossificans Progressiva
Broad femoral neck, Short 1st metacarpal, Small cervical vertebral bodies, Widely spaced teeth, B... OMIM:135100
Burn-Mckeown Syndrome
Choanal atresia, Unilateral renal agenesis, Renal hypoplasia, Bifid uvula, Bilateral choanal atre... OMIM:608572
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked
Clinodactyly, Postnatal growth retardation, Cryptorchidism, Protruding tongue, Hypospadias, Widel... OMIM:301040
Lamb-Shaffer Syndrome
Wide nasal bridge, Depressed nasal bridge, Pectus carinatum, Dental crowding, Clinodactyly, Bulbo... OMIM:616803
Cornelia De Lange Syndrome 1
Cryptorchidism, Short neck, High palate, Dislocated radial head, Ectopic kidney, Hypospadias, Hig... OMIM:122470
Frontometaphyseal Dysplasia
Joint contracture of the hand, Short distal phalanx of the thumb, Broad thumb, Limited elbow move... ORPHA:1826
Thakker-Donnai Syndrome
Downturned corners of mouth, Bulbous nose, Intrauterine growth retardation, Anteverted nares, Nar... ORPHA:1780
Thanatophoric Dysplasia, Type I
5-minute APGAR score of 1, Neonatal death, Bowing of the long bones, Short neck, Breech presentat... OMIM:187600
Odontochondrodysplasia 1
Flat acetabular roof, Polycystic kidney dysplasia, Cone-shaped epiphyses of the phalanges of the ... OMIM:184260
Arthrogryposis, Distal, Type 1C
Pursed lips, Narrow mouth, Cryptorchidism, Hip contracture, Short neck, High palate, Cleft lip, K... OMIM:619110
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 3
Unilateral renal agenesis, Ureteral atresia, Vertebral segmentation defect, Short long bone, Shor... OMIM:618845
Intellectual Developmental Disorder, X-Linked 99, Syndromic, Female-Restricted
Small hand, Hypoplasia of the corpus callosum, Anal atresia, Short foot, Hip dislocation, Choanal... OMIM:300968
Antley-Bixler Syndrome
Choanal atresia, Narrow chest, Abnormal rib morphology, Delayed cranial suture closure, Camptodac... ORPHA:83
Stapes Ankylosis With Broad Thumbs And Toes
Short distal phalanx of finger, Toe syndactyly, Broad thumb, Broad hallux, Underdeveloped nasal a... OMIM:184460
Endosteal Hyperostosis, Worth Type
Sclerotic vertebral body, Abnormal form of the vertebral bodies, Torus palatinus, Generalized ost... ORPHA:2790
Chromosome 13Q33-Q34 Deletion Syndrome
Overlapping toe, Open mouth, Encephalocele, Cryptorchidism, Agenesis of corpus callosum, Irregula... OMIM:619148
Anauxetic Dysplasia 2
Short neck, Hypoplastic iliac body, Metaphyseal dysplasia, Thoracolumbar kyphoscoliosis, Ovoid ve... OMIM:617396
Mosaic Trisomy 20
Narrow chest, Cleft lip, Clinodactyly, Spinal canal stenosis, Horseshoe kidney, Intrauterine grow... ORPHA:1724
Autosomal Dominant Robinow Syndrome
Elbow dislocation, Finger syndactyly, Open bite, Cryptorchidism, Anodontia, Short neck, Hypospadi... ORPHA:3107
Neurodevelopmental Disorder With Intracranial Hemorrhage, Seizures, And Spasticity
Hepatic sinusoidal dilatation, Basal ganglia calcification, Cerebral calcification, Cryptorchidis... OMIM:620371
Familial Congenital Mirror Movements
Agenesis of corpus callosum, Fused cervical vertebrae ORPHA:238722
Crouzon Syndrome-Acanthosis Nigricans Syndrome
Choanal atresia, Abnormal form of the vertebral bodies, Abnormal palate morphology, Abnormal meta... ORPHA:93262
Femoral-Facial Syndrome
Toe syndactyly, Encephalocele, Cryptorchidism, Agenesis of corpus callosum, Limited elbow movemen... OMIM:134780
Pseudotrisomy 13 Syndrome
Renal hypoplasia, Postaxial foot polydactyly, Cleft upper lip, Polymicrogyria, 11 pairs of ribs, ... OMIM:264480
Neurogenic Thoracic Outlet Syndrome
Abnormal rib morphology ORPHA:100073
Aarskog-Scott Syndrome
Small hand, Finger syndactyly, Cryptorchidism, Short neck, Everted lower lip vermilion, Short foo... ORPHA:915
Robinow Syndrome
Flared nostrils, Tooth malposition, Multicystic kidney dysplasia, Ankyloglossia, Marked delay in ... ORPHA:97360
Spondylometaphyseal Dysplasia, Axial
Platyspondyly, Rhizomelia, Narrow chest, Recurrent pneumonia, Thoracic hypoplasia, Short femoral ... OMIM:602271
Achondrogenesis Type 1B
Severe short stature, Narrow chest, Disproportionate short stature, Short thorax, Thickened nucha... ORPHA:93298
Aicardi Syndrome
Postnatal growth retardation, Hepatoblastoma, Polymicrogyria, Butterfly vertebrae, Missing ribs, ... OMIM:304050
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome
Broad thumb, Thoracic hemivertebrae, Overlapping toe, Hypoplasia of the corpus callosum, Agenesis... ORPHA:508498
Vertebral Anomalies And Variable Endocrine And T-Cell Dysfunction
Abnormal B cell morphology, Depressed nasal bridge, Broad nasal tip, Scoliosis, Cleft lip, Decrea... OMIM:618223
Microcephaly With Cervical Spine Fusion Anomalies
Short stature, Spinal instability, Microcephaly, Vertebral fusion OMIM:251250
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency
Abnormal vertebral morphology, Elevated circulating luteinizing hormone level, Hypoplastic scapul... ORPHA:95699
Platyspondylic Lethal Skeletal Dysplasia, Torrance Type
Thin ribs, Radial bowing, Short neck, Flat acetabular roof, Hypoplastic ischia, Ovoid vertebral b... OMIM:151210
Prune Belly Syndrome
Multicystic kidney dysplasia, Abnormality of the ureter, Cryptorchidism, Aplasia/Hypoplasia of th... ORPHA:2970
Thrombocytopenia-Absent Radius Syndrome
Short forearm, Broad thumb, Finger syndactyly, Carpal synostosis, Hepatosplenomegaly, Fibular apl... OMIM:274000
Platyspondylic Dysplasia, Torrance Type
Platyspondyly, Depressed nasal bridge, Hypoplastic scapulae, Narrow chest, Disproportionate short... ORPHA:85166
Kyphomelic Dysplasia
Narrow chest, Disproportionate short stature, Limitation of joint mobility, Abnormal form of the ... ORPHA:1801
Microphthalmia, Syndromic 3
Postnatal growth retardation, Butterfly vertebrae, Cryptorchidism, Hypoplasia of the corpus callo... OMIM:206900
Dysspondyloenchondromatosis
Platyspondyly, Anisospondyly, Joint dislocation, Delayed skeletal maturation, Abnormal ulnar meta... ORPHA:85198
Marfanoid Habitus-Autosomal Recessive Intellectual Disability Syndrome
Thin ribs, Lumbar hemivertebrae, Osteopenia, Thin metatarsal cortices, Thin metacarpal cortices, ... ORPHA:2463
Achondrogenesis Type 2
Hypoplastic ilia, Narrow chest, Unossified sacrum, Absent vertebral body mineralization, Delayed ... ORPHA:93296
Meier-Gorlin Syndrome 7
Narrow mouth, Cryptorchidism, Aplasia/Hypoplasia of the patella, Urethral stricture, Dislocated r... OMIM:617063
Achondrogenesis, Type Ia
Unossified vertebral bodies, Hypoplastic nasal bridge, Hypoplastic scapulae, Abnormal femoral met... OMIM:200600
Shashi-Pena Syndrome
Unilateral renal agenesis, Broad nasal tip, Reduced cerebral white matter volume, Intrauterine gr... OMIM:617190
Sifrim-Hitz-Weiss Syndrome
Bifid uvula, Anteriorly placed anus, Vesicoureteral reflux, Renal insufficiency, Cryptorchidism, ... OMIM:617159
Restrictive Dermopathy 1
Natal tooth, Increased anterioposterior diameter of thorax, Narrow mouth, Neonatal death, Hypospa... OMIM:275210
Chromosome 8Q22.1 Duplication Syndrome
Genu recurvatum, Gastroesophageal reflux, Limitation of joint mobility, Interphalangeal joint con... OMIM:151200
Vacterl/Vater Association
Multicystic kidney dysplasia, Occipital encephalocele, Finger syndactyly, Cryptorchidism, Aplasia... ORPHA:887
Congenital Unilateral Hypoplasia Of Depressor Anguli Oris
Cerebral cortical atrophy, Tooth agenesis, Joint stiffness, Abnormal hip bone morphology, Vesicou... ORPHA:1166
Cleft Palate-Short Stature-Vertebral Anomalies Syndrome
Abnormal vertebral morphology, Anteverted nares, Thin upper lip vermilion, Short neck, Short stat... ORPHA:2015
Frontometaphyseal Dysplasia 2
Broad thumb, Cryptorchidism, Hip contracture, Dislocated radial head, High palate, Short metacarp... OMIM:617137
Koolen-De Vries Syndrome
Aplasia/Hypoplasia of the corpus callosum, Cryptorchidism, Arachnodactyly, Everted lower lip verm... ORPHA:96169
Apert Syndrome
Depressed nasal bridge, Choanal atresia, Bifid uvula, Toe syndactyly, Finger syndactyly, Broad th... ORPHA:87
Autosomal Dominant Popliteal Pterygium Syndrome
Choanal atresia, Popliteal pterygium, Toe syndactyly, Finger syndactyly, Fibrous syngnathia, Lip ... ORPHA:1300
Brachyolmia, Maroteaux Type
Platyspondyly, Abnormal form of the vertebral bodies, Short thorax, Short stature, Pectus excavat... ORPHA:93302
Septopreoptic Holoprosencephaly
Abnormal vertebral morphology, Abnormal corpus callosum morphology, Anteriorly placed anus, Abnor... ORPHA:280195
Wildervanck Syndrome
Fused cervical vertebrae OMIM:314600
Larsen-Like Osseous Dysplasia-Short Stature Syndrome
Abnormal pelvic girdle bone morphology, Abnormal form of the vertebral bodies, Intrauterine growt... ORPHA:2370
Nemaline Myopathy 9
Narrow chest, Arthrogryposis multiplex congenita, Fetal akinesia sequence, Breech presentation, P... OMIM:615731
Hypo- And Hypermelanotic Cutaneous Macules-Retarded Growth-Intellectual Disability Syndrome
Short stature, Microcephaly, Abnormal rib morphology ORPHA:2435
Metaphyseal Chondrodysplasia, Jansen Type
Severe short stature, Choanal atresia, Nephrocalcinosis, Osteopenia, Metaphyseal cupping, Tooth m... OMIM:156400
Osteoglophonic Dysplasia
Hypoplastic scapulae, Broad thumb, Cryptorchidism, Bowing of the long bones, Short neck, Chordee,... OMIM:166250
Frontonasal Dysplasia-Bifid Nose-Upper Limb Anomalies Syndrome
Wide nasal bridge, Choanal atresia, Bifid nasal tip, Clinodactyly of the 3rd toe, Downturned corn... ORPHA:521308
Corpus Callosum Agenesis-Intellectual Disability-Coloboma-Micrognathia Syndrome
Choanal atresia, Prominent nasal bridge, Agenesis of corpus callosum, Short neck, Short stature, ... ORPHA:52055
Holzgreve Syndrome
Aplasia/Hypoplasia of the tongue, Aplasia/Hypoplasia of the corpus callosum, Abnormal mesentery m... ORPHA:2167
Mesomelic Dysplasia, Kantaputra Type
Ulnar deviation of finger, Abnormality of the ankle, Synostosis of carpal bones, Abnormality of t... ORPHA:1836
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome
Wide nasal bridge, Platyspondyly, Rhizomelia, Narrow chest, Abnormal clavicle morphology, Abnorma... ORPHA:93267
Sweeney-Cox Syndrome
Velopharyngeal insufficiency, Narrow mouth, 2-5 finger cutaneous syndactyly, Anal atresia, 2-5 to... OMIM:617746
Progressive Non-Infectious Anterior Vertebral Fusion
Wide nasal bridge, Depressed nasal bridge, Proximal radio-ulnar synostosis, Abnormality of the ve... ORPHA:2062
Congenital Disorder Of Glycosylation, Type Iig
Small hand, Shallow acetabular fossae, Giant platelets, Postnatal growth retardation, Narrow mout... OMIM:611209
Smith-Lemli-Opitz Syndrome
Multicystic kidney dysplasia, Postaxial foot polydactyly, Finger syndactyly, Aplasia/Hypoplasia o... ORPHA:818
Marshall-Smith Syndrome
Atlantoaxial dislocation, Hypoplasia of the odontoid process, Aspiration pneumonia, Cryptorchidis... OMIM:602535
Sprengel Deformity
Abnormal shoulder morphology, Short neck, Cleft palate ORPHA:3181
Lethal Congenital Contracture Syndrome Type 1
Limitation of joint mobility, Abnormal form of the vertebral bodies, Slender long bone, Amniotic ... ORPHA:1486
Schneckenbecken Dysplasia
Hypoplastic scapulae, Narrow vertebral interpedicular distance, Short neck, Anterior rib cupping,... OMIM:269250
Otopalatodigital Syndrome Type 1
Wide nasal bridge, Depressed nasal bridge, Short distal phalanx of finger, Limitation of joint mo... ORPHA:90650
Ulna Metaphyseal Dysplasia Syndrome
Depressed nasal ridge, Abnormality of the dentition, Aplasia/Hypoplasia of the radius, Abnormal f... ORPHA:1837
Corpus Callosum, Agenesis Of, With Impaired Intellectual Development, Ocular Coloboma, And Micrognathia
Choanal atresia, Bifid uvula, Recurrent pneumonia, Recurrent aspiration pneumonia, Bilateral cryp... OMIM:300472
Lowry-Maclean Syndrome
Aplasia/Hypoplasia of the corpus callosum, Delayed eruption of primary teeth, Midgut malrotation,... ORPHA:2409
Microcephaly 10, Primary, Autosomal Recessive
Choanal atresia, Reduced cerebral white matter volume, Cerebral atrophy, Intrauterine growth reta... OMIM:615095
Greenberg Dysplasia
Platyspondyly, Rhizomelia, Narrow chest, Abnormal form of the vertebral bodies, Abnormal pelvis b... ORPHA:1426
Opitz-Kaveggia Syndrome
Joint contracture of the hand, Broad thumb, Clinodactyly, Cryptorchidism, Short neck, Anal atresi... OMIM:305450
Mucopolysaccharidosis, Type Iva
Constricted iliac wing, Hypoplasia of the odontoid process, Carious teeth, Genu valgum, Short nec... OMIM:253000
Doors Syndrome
Wide nasal base, Aspiration pneumonia, Thrombocytosis, Short lingual frenulum, Adrenal hyperplasi... ORPHA:79500
Spondyloepiphyseal Dysplasia Tarda, Autosomal Recessive, Leroy-Spranger Type
Platyspondyly, Pectus carinatum, Broad femoral neck, Lumbar hyperlordosis, Thoracic kyphosis, Gen... OMIM:609223
Trisomy 10P
Thumb contracture, Absent gallbladder, Periventricular white matter hypodensities, High palate, R... ORPHA:171929
Developmental And Speech Delay Due To Sox5 Deficiency
Narrow palate, Pectus carinatum, Gastroesophageal reflux, Exaggerated median tongue furrow, Denta... ORPHA:313892
Aphalangy-Hemivertebrae-Urogenital-Intestinal Dysgenesis Syndrome
Asymmetry of the thorax, Aplasia/Hypoplasia of the phalanges of the toes, Abnormal pelvic girdle ... ORPHA:1112
Keratoconus Posticus Circumscriptus
Cleft upper lip, Vesicoureteral reflux, Limited elbow extension and supination, Short neck, Brach... OMIM:244600
Vacterl With Hydrocephalus
Absence of the sacrum, Abnormal form of the vertebral bodies, Intrauterine growth retardation, Cr... ORPHA:3412
Vater/Vacterl Association
Abnormal vertebral morphology, Occipital encephalocele, Postnatal growth retardation, Radioulnar ... OMIM:192350
Hypogonadotropic Hypogonadism 2 With Or Without Anosmia
Choanal atresia, Anosmia, Osteopenia, Clinodactyly, Ectrodactyly, Cleft upper lip, Tooth agenesis... OMIM:147950
Jeune Syndrome
Nephropathy, Narrow chest, Nephronophthisis, Abnormal clavicle morphology, Short thorax, Abnormal... ORPHA:474
Growth Delay-Hydrocephaly-Lung Hypoplasia Syndrome
Radial bowing, Intestinal malrotation, Intrauterine growth retardation, Cerebral calcification, S... ORPHA:3035
Rere-Related Neurodevelopmental Syndrome
Choanal atresia, Hypospadias, Gastroesophageal reflux, Postnatal growth retardation, Intrauterine... ORPHA:494344
Symbrachydactyly Of Hands And Feet
Aplasia/Hypoplasia of the radius, Abnormality of the humeroulnar joint, Abnormal morphology of ul... ORPHA:1570
Distal 22Q11.2 Microdeletion Syndrome
Toe syndactyly, Ankyloglossia, Narrow mouth, Arachnodactyly, Bowing of the long bones, High, narr... ORPHA:261330
Axial Spondylometaphyseal Dysplasia
Abnormal ilium morphology, Hypoplastic iliac wing, Disproportionate short-trunk short stature, Ab... ORPHA:168549
Autosomal Dominant Brachyolmia
Platyspondyly, Increased vertebral height, Kyphoscoliosis, Short thorax, Short stature, Abnormal ... ORPHA:93304
X-Linked Intellectual Disability, Abidi Type
Decreased testicular size, Prominent nasal bridge, Microcephaly, Short stature, Pectus excavatum,... ORPHA:85273
Pseudoachondroplasia
Delayed epiphyseal ossification, Hypoplasia of the odontoid process, Genu valgum, Wind-swept defo... ORPHA:750
Aspergillosis
Pneumonia, Abnormality of the vertebral column, Hepatitis, Nasal congestion, Osteomyelitis, Pleur... ORPHA:1163
Achondrogenesis Type 1A
Severe short stature, Narrow chest, Short thorax, Abnormal enchondral ossification, Umbilical her... ORPHA:93299
Esophageal Atresia
Abnormal vertebral morphology, Clinodactyly, Esophagitis, Abnormal gastrointestinal tract morphol... ORPHA:1199
Kabuki Syndrome
Small hand, Cryptorchidism, Vertebral clefting, High palate, Hypospadias, Hip dislocation, Short ... ORPHA:2322
Short Stature, Amelogenesis Imperfecta, And Skeletal Dysplasia With Scoliosis
Carious teeth, Genu valgum, Hip contracture, Flattened epiphysis, Advanced ossification of carpal... OMIM:618363
Atelosteogenesis Type I
Platyspondyly, Rhizomelia, Narrow chest, Pulmonary hypoplasia, Thoracic hypoplasia, Joint disloca... ORPHA:1190
Spondylometaphyseal Dysplasia, 'Corner Fracture' Type
Abnormal vertebral morphology, Limitation of joint mobility, Clinodactyly, Hypoplastic iliac wing... ORPHA:93315
Limb Body Wall Complex
Progressive congenital scoliosis, Cutaneous finger syndactyly, Encephalocele, Aplasia/hypoplasia ... ORPHA:2369
Caudal Regression Syndrome
Pulmonary hypoplasia, Abnormal pelvic girdle bone morphology, Aplasia/Hypoplasia of the sacrum, A... ORPHA:3027
Wildervanck Syndrome
Meningocele, Fused cervical vertebrae, Short neck ORPHA:3456
Neurodevelopmental Disorder With Microcephaly, Hypotonia, Nystagmus, And Seizures
Macroglossia, Gastroesophageal reflux, Cerebral atrophy, Anteverted nares, Decreased fetal moveme... OMIM:619876
Trisomy 18
Aplasia/Hypoplasia of the corpus callosum, Narrow mouth, Cryptorchidism, Anal atresia, Non-midlin... ORPHA:3380
Chops Syndrome
High, narrow palate, Gastroesophageal reflux, Tracheomalacia, Downturned corners of mouth, Aspira... OMIM:616368
Catel-Manzke Syndrome
Abnormal epiphysis morphology, Oral synechia, Camptodactyly of finger, Joint stiffness, Radial de... ORPHA:1388
Pontine Tegmental Cap Dysplasia
Hypoplasia of the corpus callosum, Ankle clonus, Rib fusion, Dysphagia, Hemivertebrae, Scoliosis OMIM:614688
Campomelia, Cumming Type
Multicystic kidney dysplasia, Clubbing of toes, Lymphedema, Oligohydramnios, Abnormal thorax morp... ORPHA:1318
Chromosome 9P Deletion Syndrome
Narrow mouth, Short neck, High palate, Hypospadias, High, narrow palate, Choanal atresia, Thin up... OMIM:158170
Craniosynostosis, Herrmann-Opitz Type
Abnormality of the urethra, Finger syndactyly, Intrauterine growth retardation, Oligohydramnios, ... ORPHA:2145
Thanatophoric Dysplasia
Platyspondyly, Depressed nasal bridge, Narrow chest, Abnormal ilium morphology, Disproportionate ... ORPHA:2655
Marshall-Smith Syndrome
Choanal atresia, Slender long bone, Anteverted nares, Gingival overgrowth, Reduced bone mineral d... ORPHA:561
3M Syndrome
Thin ribs, Short neck, Everted lower lip vermilion, Hypoplastic ischia, Hypospadias, Abnormality ... ORPHA:2616
Lenz-Majewski Hyperostotic Dwarfism
Limitation of joint mobility, Finger syndactyly, Delayed cranial suture closure, Cryptorchidism, ... ORPHA:2658
Restrictive Dermopathy
Thin ribs, Natal tooth, Increased anterioposterior diameter of thorax, Large placenta, Narrow mou... ORPHA:1662
Ulna And Fibula, Absence Of, With Severe Limb Deficiency
Radial bowing, Aplasia/Hypoplasia of the pubic bone, Fibular aplasia, Cryptorchidism, Barrel-shap... OMIM:276820
Dyssegmental Dysplasia, Silverman-Handmaker Type
Limitation of joint mobility, Broad long bones, Narrow mouth, Encephalocele, Cryptorchidism, Shor... ORPHA:1865
Camptodactyly Syndrome, Guadalajara Type 1
Toe syndactyly, Open bite, Narrow mouth, High palate, Short nose, Pectus carinatum, Short toe, De... ORPHA:1327
Diabetes Mellitus, Neonatal, With Congenital Hypothyroidism
Cholestasis, Thoracolumbar scoliosis, Hepatomegaly, Polycystic kidney dysplasia, Choanal atresia,... OMIM:610199
Three M Syndrome 1
Postnatal growth retardation, Short neck, Hypospadias, Hip dislocation, Short 5th finger, Joint d... OMIM:273750
Marden-Walker Syndrome
Joint contracture of the hand, Postnatal growth retardation, Narrow mouth, Cryptorchidism, Agenes... OMIM:248700
Cutis Laxa, Autosomal Recessive, Type Iie
Wide nasal bridge, Hip dislocation, Broad nasal tip, Long philtrum, Thick lower lip vermilion, Lu... OMIM:619451
Mayer-Rokitansky-Küster-Hauser Syndrome Type 2
Vertebral segmentation defect, Short neck, Abnormal rib morphology, Short stature, Ectopic kidney ORPHA:2578
Orofaciodigital Syndrome Type 4
Aplasia/Hypoplasia of the tibia, Finger syndactyly, Abnormal joint morphology, Perineal fistula, ... ORPHA:2753
Fibrochondrogenesis 1
Thin ribs, Hypoplastic scapulae, Joint contracture of the hand, Small hand, Broad long bones, Nar... OMIM:228520
Spondylocarpotarsal Synostosis Syndrome
Epiphyseal dysplasia, Hypoplasia of the odontoid process, Carpal synostosis, C2-C3 subluxation, S... OMIM:272460
Acrocapitofemoral Dysplasia
Pectus carinatum, Narrow chest, Cone-shaped metacarpal epiphyses, Abnormal femoral neck morpholog... ORPHA:63446
Spondyloepimetaphyseal Dysplasia, Irapa Type
Platyspondyly, Pectus carinatum, Limitation of joint mobility, Disproportionate short-limb short ... ORPHA:93351
Brachyolmia Type 1, Hobaek Type
Platyspondyly, Pectus carinatum, Osteopenia, Sclerotic foci of metaphyses of the elbow, Kyphosis,... OMIM:271530
Multiple Epiphyseal Dysplasia, Beighton Type
Limitation of joint mobility, Genu valgum, Intervertebral space narrowing, Reduced proximal inter... ORPHA:166011
Brachyolmia Type 1, Toledo Type
Abnormal odontoid process morphology, Lumbar hyperlordosis, Precocious costochondral ossification... OMIM:271630
Robin Sequence-Oligodactyly Syndrome
Finger aplasia, Abnormality of the dentition, Abnormal form of the vertebral bodies, Abnormal mor... ORPHA:3104
Van Den Ende-Gupta Syndrome
Thin ribs, Hypoplastic scapulae, Joint contracture of the hand, Long metacarpals, Long hallux, Na... OMIM:600920
Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy
Macroglossia, Gastroesophageal reflux, Atelectasis, Open mouth, Protruding tongue, Recurrent lowe... ORPHA:258
Mucopolysaccharidosis Type 4
Carious teeth, Genu valgum, Bowing of the long bones, Short neck, Pectus carinatum, Joint disloca... ORPHA:582
Osteogenesis Imperfecta, Type Ix
Platyspondyly, Pectus carinatum, Dentinogenesis imperfecta, Disproportionate short-limb short sta... OMIM:259440
Progressive Pseudorheumatoid Arthropathy Of Childhood
Abnormal ilium morphology, Infancy onset short-trunk short stature, Joint contracture of the hand... ORPHA:1159
Pallister-Hall-Like Syndrome
Depressed nasal bridge, Hip dislocation, Microglossia, Occipital encephalocele, Toe syndactyly, P... OMIM:241800
Lethal Congenital Contracture Syndrome 10
Narrow palate, Narrow chest, Long philtrum, Stiff neck, Broad ribs, Intrauterine growth retardati... OMIM:617022
Microcephalic Primordial Dwarfism, Montreal Type
Severe short stature, Carious teeth, Open bite, Congenital pyloric atresia, Reduced bone mineral ... ORPHA:2617
Burn-Mckeown Syndrome
Wide nasal bridge, Bilateral choanal atresia, Prominent nasal bridge, Abnormal palate morphology,... ORPHA:1200
Distal Deletion 17Q
Small hand, Deviation of finger, Abnormal form of the vertebral bodies, Aplasia/Hypoplasia of the... ORPHA:1597
Cardiospondylocarpofacial Syndrome
Carpal synostosis, Tarsal synostosis, Short foot, Fused cervical vertebrae, Gastroesophageal refl... OMIM:157800
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome
Absent gallbladder, Hypoplasia of the corpus callosum, Arachnodactyly, Dysphagia, Short nose, Abn... ORPHA:500150
Microcephaly-Micromelia Syndrome
Short tibia, Aplasia/Hypoplasia of the corpus callosum, Narrow mouth, Humeroradial synostosis, Ne... OMIM:251230
Auricular Abnormalities-Cleft Lip With Or Without Cleft Palate-Ocular Abnormalities Syndrome
Wide nasal bridge, Depressed nasal ridge, Underdeveloped nasal alae, Cervical ribs, Intestinal ma... ORPHA:77300
Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly
Hypoplastic scapulae, Short lingual frenulum, Bowing of the long bones, Flat acetabular roof, Hig... OMIM:614091
Diastrophic Dysplasia
Neonatal short-limb short stature, Cervical kyphosis, Hypoplastic cervical vertebrae, Disproporti... OMIM:222600
Dyggve-Melchior-Clausen Disease
Epiphyseal dysplasia, Hypoplasia of the odontoid process, Genu valgum, Short neck, Disproportiona... ORPHA:239
Roifman Syndrome
Postnatal growth retardation, Hip contracture, Hepatomegaly, Short metacarpal, Irregular vertebra... OMIM:616651
Otopalatodigital Syndrome Type 2
Synostosis of carpal bones, Elbow dislocation, Carpal synostosis, Fibular aplasia, Narrow mouth, ... ORPHA:90652
Spondylomegaepiphyseal Dysplasia With Upper Limb Mesomelia, Punctate Calcifications, And Deafness
Platyspondyly, Disproportionate short stature, Hypoplastic iliac wing, Lumbar hyperlordosis, Enla... OMIM:609616
Arthrogryposis Multiplex Congenita 1, Neurogenic, With Myelin Defect
Ankle flexion contracture, Arthrogryposis multiplex congenita, Dental crowding, Internally rotate... OMIM:617468
Edinburgh Malformation Syndrome
Choanal atresia, Slender finger, Ulnar deviation of finger, Downturned corners of mouth, Joint st... ORPHA:1895
Deeah Syndrome
Overlapping fingers, Narrow mouth, Cryptorchidism, Prominent nasal tip, Short neck, Micropenis, C... OMIM:619004
Noonan Syndrome 7
Depressed nasal bridge, Pectus carinatum, Growth delay, Joint hypermobility, Cubitus valgus, Shor... OMIM:613706
Acromicric Dysplasia
Severe short stature, Cone-shaped epiphysis, Fifth metacarpal with ulnar notch, Delayed skeletal ... OMIM:102370
Three M Syndrome 2
Thin ribs, Clinodactyly, Prominent nasal tip, Short neck, High palate, Short 5th finger, Pectus c... OMIM:612921
Cartilage-Hair Hypoplasia
Absent pubertal growth spurt, Hypoplasia of the odontoid process, Lymphopenia, Narrow vertebral i... OMIM:250250
Spondyloepimetaphyseal Dysplasia, Strudwick Type
Severe short stature, Platyspondyly, Pectus carinatum, Hypoplasia of the odontoid process, Dispro... OMIM:184250
Spondyloepimetaphyseal Dysplasia, X-Linked, With Hypomyelinating Leukodystrophy
Thin ribs, Hypoplasia of the odontoid process, Hypoplasia of the corpus callosum, Short neck, Ant... OMIM:300232
Thanatophoric Dysplasia, Type Ii
Platyspondyly, Small abnormally formed scapulae, Narrow chest, Hypoplastic ilia, Lethal short-lim... OMIM:187601
Metaphyseal Chondrodysplasia, Schmid Type
Abnormal vertebral morphology, Radial metaphyseal irregularity, Anterior rib cupping, Genu varum,... ORPHA:174
Monosomy 9P
Limitation of joint mobility, Narrow mouth, Cryptorchidism, Agenesis of corpus callosum, Short ne... ORPHA:261112
Pallister-Hall Syndrome
Toe syndactyly, Broad thumb, Radial bowing, Natal tooth, Hypopituitarism, Polydactyly affecting t... ORPHA:672
Chromosome 1Q41-Q42 Deletion Syndrome
Supernumerary nipple, Cryptorchidism, High palate, Broad nasal tip, Vertebral segmentation defect... OMIM:612530
Achondrogenesis, Type Ii
Disproportionate short-limb short stature, Long philtrum, Broad long bones, Short tubular bones o... OMIM:200610
Microphthalmia With Cyst, Bilateral Facial Clefts, And Limb Anomalies
High, narrow palate, Choanal atresia, Depressed nasal ridge, Broad proximal phalanges of the hand... OMIM:607597
Fibrochondrogenesis 2
Platyspondyly, Hypoplastic ilia, Metaphyseal cupping, Thoracic hypoplasia, Anteverted nares, Bell... OMIM:614524
Citrullinemia, Type Ii, Adult-Onset
Hepatic fibrosis, Portal inflammation, Ballooning hepatocyte degeneration, Hepatic steatosis, Pan... OMIM:603471
Chromosome 16P13.3 Duplication Syndrome
Cryptorchidism, Short neck, Hip dislocation, Short nose, Wide nose, Short toe, Cervical C5/C6 ver... OMIM:613458
Microcephalic Primordial Dwarfism, Toriello Type
Severe short stature, Abnormal epiphysis morphology, Downturned corners of mouth, Delayed skeleta... ORPHA:2643
Alagille Syndrome 1
Cholestasis, Cirrhosis, Long nose, Focal segmental glomerulosclerosis, Bulbous nose, Butterfly ve... OMIM:118450
Dyssegmental Dysplasia, Silverman-Handmaker Type
Severe short stature, Wide nasal bridge, Anisospondyly, Occipital encephalocele, Disproportionate... OMIM:224410
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia
Thin ribs, Depressed nasal ridge, Rhizomelia, Platyspondyly, Metaphyseal cupping of metacarpals, ... OMIM:300863
Mosaic Trisomy 8
Limitation of joint mobility, Cryptorchidism, Patellar aplasia, Agenesis of corpus callosum, Shor... ORPHA:96061
Holoprosencephaly
Aplasia/Hypoplasia of the corpus callosum, Abnormality of the spleen, Cryptorchidism, Encephaloce... ORPHA:2162
Mucopolysaccharidosis, Type Ivb
Constricted iliac wing, Hypoplasia of the odontoid process, Carious teeth, Genu valgum, Dispropor... OMIM:253010
Epiphyseal Dysplasia, Multiple, With Severe Proximal Femoral Dysplasia
Epiphyseal dysplasia, Platyspondyly, Arthralgia of the hip, Broad femoral neck, Flared femoral me... OMIM:609324
Alagille Syndrome
Short distal phalanx of finger, Nephrotic syndrome, Peripheral pulmonary artery stenosis, Abnorma... ORPHA:52
Renpenning Syndrome
Severe short stature, Hypospadias, High, narrow palate, Broad columella, Decreased testicular siz... ORPHA:3242
Crouzon Syndrome
Choanal atresia, Multiple suture craniosynostosis, Convex nasal ridge, Narrow palate, Abnormal sa... ORPHA:207
Koolen-De Vries Syndrome
Pear-shaped nose, Cryptorchidism, Hypoplasia of the corpus callosum, Open mouth, Everted lower li... OMIM:610443
Spondyloepiphyseal Dysplasia-Brachydactyly-Speech Disorder Syndrome
Broad long bones, Thick upper lip vermilion, Abnormal metatarsal morphology, Cryptorchidism, Shor... ORPHA:163654
Spondylometaphyseal Dysplasia, A4 Type
Severe short stature, Platyspondyly, Limitation of joint mobility, Coxa vara, Flared, irregular r... ORPHA:168555
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Microdeletion
Postnatal growth retardation, Overlapping toe, Large placenta, Open mouth, Flexion contracture of... ORPHA:254528
Cloacal Exstrophy
Hip dislocation, Hydroureter, Ureterocele, Intestinal duplication, Myelomeningocele, Horseshoe ki... ORPHA:93929
Epiphyseal Dysplasia, Multiple, 1
Severe short stature, Delayed epiphyseal ossification, Hip osteoarthritis, Epiphyseal dysplasia, ... OMIM:132400
Vacterl Association, X-Linked, With Or Without Hydrocephalus
Abnormal vertebral morphology, Abnormality of the vertebral column, Absence of stomach bubble on ... OMIM:314390
Spondyloepimetaphyseal Dysplasia, Irapa Type
Platyspondyly, Pectus carinatum, Broad femoral neck, Hypoplastic sacrum, Upper limb undergrowth, ... OMIM:271650
Kbg Syndrome
Ulnar deviation of the 2nd finger, Cryptorchidism, Short neck, Widely-spaced maxillary central in... OMIM:148050
Intellectual Disability-Polydactyly-Uncombable Hair Syndrome
Pectus carinatum, Aplasia/Hypoplasia of fingers, Toe syndactyly, Abnormal epiphysis morphology, N... ORPHA:3082
Acromicric Dysplasia
Severe short stature, Small hand, Fifth metacarpal with ulnar notch, Abnormal epiphysis morpholog... ORPHA:969
Rhizomelic Syndrome, Urbach Type
Depressed nasal bridge, Rhizomelia, Hip dislocation, Limitation of joint mobility, Abnormal form ... ORPHA:3098
Hall-Riggs Syndrome
Platyspondyly, Depressed nasal bridge, Delayed skeletal maturation, Thick lower lip vermilion, In... OMIM:234250
Short-Rib Thoracic Dysplasia 12
Hypoplastic scapulae, Natal tooth, Neonatal death, Short neck, Short palm, Hepatomegaly, Short fo... OMIM:269860
Lethal Congenital Contracture Syndrome 1
Abnormal thorax morphology, Neonatal death, Widening of cervical spinal canal, Arthrogryposis mul... OMIM:253310
Phaver Syndrome
Depressed nasal bridge, Ulnar deviation of finger, Broad thumb, Abnormal form of the vertebral bo... ORPHA:2876
Pfeiffer Syndrome Type 3
Depressed nasal bridge, Choanal atresia, Small hand, Limitation of joint mobility, Tracheomalacia... ORPHA:93260
Elsahy-Waters Syndrome
Shortening of all phalanges of fingers, Cutaneous finger syndactyly, High palate, Hypospadias, Wi... OMIM:211380
Coffin-Siris Syndrome 1
Postnatal growth retardation, Cryptorchidism, Hypoplasia of the corpus callosum, Aplasia/Hypoplas... OMIM:135900
Craniodiaphyseal Dysplasia
Wide nasal bridge, Depressed nasal bridge, Diaphyseal undertubulation, Abnormal rib morphology, S... ORPHA:1513
Branchial Arch Abnormalities, Choanal Atresia, Athelia, Hearing Loss, And Hypothyroidism Syndrome
Carious teeth, Natal tooth, Branchial cyst, Clinodactyly, Ankyloglossia, Prolonged neonatal jaund... OMIM:620186
Sheldon-Hall Syndrome
Wide nasal bridge, Ulnar deviation of finger, Aplasia/Hypoplasia of the radius, Joint stiffness, ... ORPHA:1147
Spondyloepiphyseal Dysplasia, Stanescu Type
Platyspondyly, Hypoplastic ilia, Vertebral wedging, Stiff neck, Joint stiffness, Internal tibial ... OMIM:616583
Spondylo-Megaepiphyseal-Metaphyseal Dysplasia
Long hallux, Hypoplastic iliac wing, Genu valgum, Delayed pubic bone ossification, Short neck, Di... OMIM:613330
Intellectual Developmental Disorder, X-Linked, Syndromic, Siderius Type
Broad nasal tip, Cleft lip, Arachnodactyly, Microcephaly, Long toe, Cleft palate, Thoracic kyphosis OMIM:300263
Bronchogenic Cyst
Pneumonia, Pulmonary cyst, Bronchogenic cyst, Atelectasis, Abnormal stomach morphology, Abnormal ... ORPHA:2357
Grant Syndrome
Depressed nasal bridge, Narrow chest, Abnormality of the glenoid fossa, Joint dislocation, Abnorm... ORPHA:2097
Short-Rib Thoracic Dysplasia 11 With Or Without Polydactyly
Narrow chest, Nephrocalcinosis, Thoracic dysplasia, Bell-shaped thorax, Cryptorchidism, Horizonta... OMIM:615633
7Q11.23 Microduplication Syndrome
Short lingual frenulum, Cryptorchidism, Short neck, High palate, Hypospadias, Broad nasal tip, Tr... ORPHA:96121
Congenital Myopathy 22B, Severe Fetal
Thin ribs, Hip contracture, Short neck, Breech presentation, Hepatomegaly, High palate, Short nos... OMIM:620369
Spondyloepiphyseal Dysplasia Tarda
Enlarged metaphyses, Hypoplasia of the odontoid process, Limitation of joint mobility, Finger swe... ORPHA:93284
Hatipoglu Immunodeficiency Syndrome
Intrauterine growth retardation, Pancytopenia, Cryptorchidism, Recurrent bronchitis, Proportionat... OMIM:620331
Vertebral Hypersegmentation And Orofacial Anomalies
Unilateral cleft lip, Supernumerary nipple, Anteverted nares, Submucous cleft hard palate, Joint ... OMIM:619122
Short-Rib Thoracic Dysplasia 20 With Polydactyly
Natal tooth, Short tibia, Absent gallbladder, Neonatal death, Short neck, Anal atresia, Cleft lip... OMIM:617925
Melnick-Needles Syndrome
Tooth malposition, Delayed cranial suture closure, Bowing of the long bones, Cone-shaped epiphyse... ORPHA:2484
Bamforth-Lazarus Syndrome
Polyhydramnios, Bilateral choanal atresia, Cleft palate OMIM:241850
Bamforth-Lazarus Syndrome
Polyhydramnios, Choanal atresia, Cleft palate ORPHA:1226
Otospondylomegaepiphyseal Dysplasia, Autosomal Dominant
Platyspondyly, Depressed nasal bridge, Epiphyseal dysplasia, Premature osteoarthritis, Anteverted... OMIM:184840
Frontofacionasal Dysplasia
Tessier cleft, Choanal atresia, Depressed nasal ridge, Bifid nasal tip, Depressed nasal bridge, E... ORPHA:1791
Arrhinia-Choanal Atresia-Microphthalmia Syndrome
Choanal atresia, Aplasia/Hypoplasia involving the nose, Tooth agenesis, Abnormality of the sense ... ORPHA:1135
9Q21.13 Microdeletion Syndrome
Downturned corners of mouth, Aplasia/Hypoplasia of the corpus callosum, Abnormal tongue morpholog... ORPHA:531151
Microcephalic Osteodysplastic Dysplasia, Saul-Wilson Type
Platyspondyly, Small hand, Hypoplasia of the odontoid process, Overhanging nasal tip, Narrow nasa... ORPHA:85172
Osteogenesis Imperfecta, Type Ii
Thin ribs, Platyspondyly, Abnormal pelvic girdle bone morphology, Disproportionate short-limb sho... OMIM:166210
Congenital Amegakaryocytic Thrombocytopenia
Abnormal form of the vertebral bodies, Abnormal hemoglobin, Decreased skull ossification, Short n... ORPHA:3319
Roifman Syndrome
Epiphyseal dysplasia, Postnatal growth retardation, Hepatosplenomegaly, Hypoplasia of the corpus ... ORPHA:353298
Feingold Syndrome
Depressed nasal bridge, Deviation of the 2nd finger, Toe syndactyly, Annular pancreas, Abnormal f... ORPHA:1305
Craniofacioskeletal Syndrome
Choanal atresia, Small hand, Intrauterine growth retardation, Absent gallbladder, Cryptorchidism,... OMIM:300712
Intellectual Developmental Disorder With Cardiac Defects And Dysmorphic Facies
Overlapping toe, Overlapping fingers, Cryptorchidism, Hypospadias, Short nose, Gastroesophageal r... OMIM:618316
Camptodactyly Syndrome, Guadalajara Type 2
Short 5th toe, Patellar hypoplasia, Camptodactyly of finger, Intrauterine growth retardation, Sho... ORPHA:1326
Charge Syndrome
Abnormal tibia morphology, Postnatal growth retardation, Narrow mouth, Cryptorchidism, Micropenis... ORPHA:138
Even-Plus Syndrome
Severe short stature, Depressed nasal ridge, Bifid nasal tip, Renal hypoplasia, Epiphyseal dyspla... OMIM:616854
Atelosteogenesis Type Ii
Wide nasal base, Hypoplastic cervical vertebrae, Elbow dislocation, Bell-shaped thorax, Genu valg... ORPHA:56304
Spondylometaphyseal Dysplasia, Kozlowski Type
Hypoplasia of the odontoid process, Carpal bone hypoplasia, Short neck, Disproportionate short-tr... OMIM:184252
Mucopolysaccharidosis, Type X
Wide nasal bridge, Platyspondyly, Broad clavicles, Long philtrum, Irregular acetabular roof, Open... OMIM:619698
Autosomal Recessive Multiple Pterygium Syndrome
Limitation of joint mobility, Finger syndactyly, Cryptorchidism, Abnormal gastrointestinal tract ... ORPHA:2990
X-Linked Female Restricted Facial Dysmorphism-Short Stature-Choanal Atresia-Intellectual Disability
Wide nasal base, Flared nostrils, Small hand, Tooth malposition, Limitation of joint mobility, Ov... ORPHA:480880
Fibrochondrogenesis
Depressed nasal bridge, Hypoplastic scapulae, Narrow chest, Abnormal form of the vertebral bodies... ORPHA:2021
Garg-Mishra Progeroid Syndrome
Thin ribs, Platyspondyly, Narrow chest, Dental crowding, Slender long bone, Persistent open anter... OMIM:620601
Gm1-Gangliosidosis, Type I
Severe short stature, Depressed nasal ridge, Intrauterine growth retardation, Joint stiffness, Gi... OMIM:230500
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type
Thin ribs, Depressed nasal ridge, Rhizomelia, Platyspondyly, Metaphyseal cupping of metacarpals, ... ORPHA:163966
Gm1 Gangliosidosis Type 1
Aspiration pneumonia, Hepatosplenomegaly, Urinary glycosaminoglycan excretion, Abnormal placenta ... ORPHA:79255
Blepharocheilodontic Syndrome 1
Choanal atresia, Conical tooth, Clinodactyly, Cleft upper lip, Hypodontia, Cutaneous syndactyly, ... OMIM:119580
Maxillonasal Dysplasia
Depressed nasal bridge, Depressed nasal ridge, Short distal phalanx of finger, Tooth agenesis, Op... ORPHA:1248
Cleidocranial Dysplasia
Hypoplastic scapulae, Carious teeth, Open bite, Genu valgum, Decreased skull ossification, Abnorm... ORPHA:1452
Spondyloepimetaphyseal Dysplasia, Borochowitz-Cormier-Daire Type
Platyspondyly, Squared iliac bones, Disproportionate short-limb short stature, Thoracic hypoplasi... OMIM:608728
Intellectual Disability-Myopathy-Short Stature-Endocrine Defect Syndrome
Pectus carinatum, Limitation of joint mobility, Delayed skeletal maturation, Abnormal hip bone mo... ORPHA:3068
Laryngotracheoesophageal Cleft Type 4
Abnormal form of the vertebral bodies, Abnormal mesentery morphology, Abnormality of the spleen, ... ORPHA:93941
22Q11.2 Deletion Syndrome
Carious teeth, Narrow mouth, Cryptorchidism, Arachnodactyly, Short neck, Patellar dislocation, Hy... ORPHA:567
Pfeiffer Syndrome
Depressed nasal bridge, Choanal atresia, Coronal craniosynostosis, Broad thumb, Finger syndactyly... OMIM:101600
Mucolipidosis Type Iii
Abnormal form of the vertebral bodies, Joint stiffness, Abnormal hip bone morphology, Hyperlordos... ORPHA:577
Epiphyseal Dysplasia, Multiple, 7
Platyspondyly, Epiphyseal dysplasia, Vertebral wedging, Hypoplasia of the capital femoral epiphys... OMIM:617719
Oeis Complex
Congenital hip dislocation, Absence of the sacrum, Hydroureter, Duplicated colon, Anteriorly plac... OMIM:258040
Seckel Syndrome 5
Hypospadias, Abnormal cortical gyration, Delayed skeletal maturation, Selective tooth agenesis, 1... OMIM:613823
Cenani-Lenz Syndrome
Synostosis of joints, Toe syndactyly, Synostosis of carpal bones, Elbow dislocation, Finger synda... ORPHA:3258
Cornelia De Lange Syndrome
Multicystic kidney dysplasia, Toe syndactyly, Small hand, Elbow dislocation, Cryptorchidism, Radi... ORPHA:199
Multiple Synostoses Syndrome 2
Carpal synostosis, Humeroradial synostosis, Finger symphalangism, Brachydactyly, Proximal symphal... OMIM:610017
Blomstrand Lethal Chondrodysplasia
Synostosis of joints, Natal tooth, Protruding tongue, Bowing of the long bones, Short metacarpal,... ORPHA:50945
Spondyloepiphyseal Dysplasia-Craniosynostosis-Cleft Palate-Cataracts-Intellectual Disability Syndrome
Short neck, Abnormal bone ossification, Flattened epiphysis, High palate, Flat acetabular roof, S... ORPHA:163649
Spondylometaphyseal Dysplasia With Corneal Dystrophy
Depressed nasal bridge, Narrow chest, Coarse metaphyseal trabecularization, Thoracic platyspondyl... OMIM:618961
Larsen Syndrome
Hypoplastic cervical vertebrae, Elbow dislocation, Cryptorchidism, Beaking of vertebral bodies, H... OMIM:150250
Choanal Atresia And Lymphedema
Pericardial effusion, Choanal atresia, High palate, Lymphedema OMIM:613611
Atelosteogenesis, Type Iii
Depressed nasal bridge, Rhizomelia, Cervical kyphosis, Tombstone-shaped proximal phalanges, Elbow... OMIM:108721
Lujo Hemorrhagic Fever
Facial edema, Generalized edema, Oliguria, Elevated circulating hepatic transaminase concentratio... ORPHA:319213
Trisomy 13
High, narrow palate, Abnormality of the dentition, Narrow chest, Abnormal pelvic girdle bone morp... ORPHA:3378
Ghosal Hematodiaphyseal Dysplasia
Abnormal pelvic girdle bone morphology, Abnormal form of the vertebral bodies, Abnormal tibia mor... ORPHA:1802
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly
Postaxial polysyndactyly of foot, Polycystic kidney dysplasia, Pectus carinatum, Polysyndactyly o... OMIM:263520
Peters-Plus Syndrome
Square pelvis bone, Postnatal growth retardation, Short lingual frenulum, Cryptorchidism, Agenesi... OMIM:261540
Chromosome 18Q Deletion Syndrome
Toe syndactyly, Overlapping toe, Cryptorchidism, Short neck, Hypospadias, U-Shaped upper lip verm... OMIM:601808
Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart
Hypoplastic anterior commissure, Cryptorchidism, Hypoplasia of the corpus callosum, High palate, ... OMIM:616975
Orofaciodigital Syndrome Type 1
Multicystic kidney dysplasia, Finger syndactyly, Open bite, Agenesis of corpus callosum, Foot pol... ORPHA:2750
Cartilage-Hair Hypoplasia
Small hand, Bowing of the long bones, Short neck, Neutropenia, Abnormal bone ossification, Diaphy... ORPHA:175
Mucopolysaccharidosis Type 6
Epiphyseal dysplasia, Recurrent upper respiratory tract infections, Thick lower lip vermilion, Th... ORPHA:583
Pseudoachondroplasia
Delayed epiphyseal ossification, Atlantoaxial dislocation, Hypoplasia of the odontoid process, Ra... OMIM:177170
Mullerian Duct Aplasia, Unilateral Renal Agenesis, And Cervicothoracic Somite Anomalies
Unilateral renal agenesis, Abnormality of the vertebral column, Cleft upper lip, Sprengel anomaly... OMIM:601076
Vertebral Fusion, Posterior Lumbosacral, With Blepharoptosis
Posterior fusion of lumbosacral vertebrae OMIM:192800
Tibial Hemimelia
Aplasia of the 2nd metacarpal, Short tibia, Radial club hand, Cutaneous finger syndactyly, Crypto... ORPHA:93322
Pfeiffer Syndrome Type 2
Deviation of the thumb, Depressed nasal bridge, Choanal atresia, Small hand, Limitation of joint ... ORPHA:93259
Osteoarthritis With Mild Chondrodysplasia
Platyspondyly, Hip osteoarthritis, Schmorl's node, Joint stiffness, Knee osteoarthritis, Beaking ... OMIM:604864
Cantu Syndrome
Thick upper lip vermilion, Broad first metatarsal, Short neck, Hypoplastic ischiopubic ramus, Sho... OMIM:239850
Spondylometaphyseal Dysplasia, Kozlowski Type
Delayed epiphyseal ossification, Abnormal ilium morphology, Hypoplasia of the odontoid process, R... ORPHA:93314
Osteogenesis Imperfecta, Type Xv
Platyspondyly, Thin ribs, Bowing of limbs due to multiple fractures, Joint hypermobility, Schizen... OMIM:615220
Mosaic Trisomy 16
Pulmonary hypoplasia, Short forearm, Meckel diverticulum, Abnormality of the nose, Anteriorly pla... ORPHA:1708
Ossification Anomalies-Psychomotor Developmental Delay Syndrome
Thin ribs, Postnatal growth retardation, Abnormal bone ossification, Hepatomegaly, Dysphagia, Sho... ORPHA:73230
Antley-Bixler Syndrome Without Genital Anomalies Or Disordered Steroidogenesis
Lambdoidal craniosynostosis, Depressed nasal bridge, Choanal atresia, Narrow chest, Coronal crani... OMIM:207410
Tetraamelia-Multiple Malformations Syndrome
Multicystic kidney dysplasia, Aplasia/Hypoplasia involving the nose, Abnormal lung lobation, Apla... ORPHA:3301
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 3
Thin ribs, Platyspondyly, Metaphyseal irregularity, Multiple joint dislocation, Short femoral nec... OMIM:618395
Methimazole Embryofetopathy
Choanal atresia, Intrauterine growth retardation, Tracheoesophageal fistula, Esophageal atresia, ... ORPHA:1923
Posterior Fusion Of Lumbosacral Vertebrae-Blepharoptosis Syndrome
Abnormal form of the vertebral bodies, Joint stiffness, Posterior fusion of lumbosacral vertebrae... ORPHA:2064
Diamond-Blackfan Anemia 10
Choanal atresia, Growth delay, Macrocytic anemia, Steroid-responsive anemia, Supernumerary ribs, ... OMIM:613309
Muscular Dystrophy-Dystroglycanopathy (Congenital With Or Without Impaired Intellectual Development), Type B, 5
Macroglossia, Elbow contracture, Microcephaly, Abnormal cerebral white matter morphology, Hyperlo... OMIM:606612
Bainbridge-Ropers Syndrome
Supernumerary nipple, Cryptorchidism, Hypoplasia of the corpus callosum, Arachnodactyly, Breech p... OMIM:615485
Incontinentia Pigmenti
Conical tooth, Delayed eruption of teeth, Supernumerary nipple, Breast aplasia, Breast hypoplasia... OMIM:308300
Combined Oxidative Phosphorylation Deficiency 33
Nephrotic syndrome, Elevated circulating hepatic transaminase concentration, Intrauterine growth ... OMIM:617713
Autosomal Recessive Robinow Syndrome
Multicystic kidney dysplasia, Toe syndactyly, Synostosis of carpal bones, Elbow dislocation, Fing... ORPHA:1507
Cooper-Jabs Syndrome
Anteriorly placed anus, Umbilical hernia, Camptodactyly of finger, Anteverted nares, Abnormal hip... ORPHA:1488
White Forelock With Malformations
Finger syndactyly, Delayed skeletal maturation, Clinodactyly of the 5th finger, Abnormal palate m... ORPHA:2475
Schinzel-Giedion Midface Retraction Syndrome
Postnatal growth retardation, Aplasia/Hypoplasia of the pubic bone, Hypoplasia of the corpus call... OMIM:269150
Desbuquois Dysplasia 2
Epiphyseal dysplasia, Broad thumb, Postnatal growth retardation, Short neck, Radial head subluxat... OMIM:615777
Faciodigitogenital Syndrome, Autosomal Recessive
Cryptorchidism, High palate, Short foot, Short nose, Syndactyly, Abnormal rib cage morphology, Pr... OMIM:227330
Fetal Akinesia Deformation Sequence
Depressed nasal bridge, Arthrogryposis multiplex congenita, Camptodactyly of finger, Pterygium, I... ORPHA:994
Osteogenesis Imperfecta, Type Xix
Severe short stature, Pectus carinatum, Rhizomelia, Osteopenia, Dentinogenesis imperfecta, Verteb... OMIM:301014
Kuskokwim Syndrome
Aplasia/Hypoplasia of the radius, Abnormal clavicle morphology, Abnormal form of the vertebral bo... ORPHA:1149
Lateral Meningocele Syndrome
Dental crowding, Long philtrum, Umbilical hernia, Sclerosis of skull base, Cryptorchidism, Biconc... OMIM:130720
Congenital Osteogenesis Imperfecta-Microcephaly-Cataracts Syndrome
Disproportionate short-limb short stature, Intrauterine growth retardation, Cryptorchidism, Decre... ORPHA:2772
Aminopterin Syndrome Sine Aminopterin
Joint contracture of the hand, Clinodactyly, Short thumb, Umbilical hernia, Intrauterine growth r... OMIM:600325
Mucopolysaccharidosis, Type Iiia
Recurrent upper respiratory tract infections, Umbilical hernia, Heparan sulfate excretion in urin... OMIM:252900
Developmental And Epileptic Encephalopathy 85 With Or Without Midline Brain Defects
Small hand, Clinodactyly, Hypoplasia of the corpus callosum, Short foot, Short nose, Choanal atre... OMIM:301044
Bruck Syndrome 1
Platyspondyly, Pectus carinatum, Ankle flexion contracture, Abnormality of the dentition, Vertebr... OMIM:259450
Treacher-Collins Syndrome
Open bite, Narrow mouth, Encephalocele, Cryptorchidism, High palate, Rectovaginal fistula, Thyroi... ORPHA:861
Cat-Eye Syndrome
Intrauterine growth retardation, Hydronephrosis, Abnormal rib morphology, Short stature, Anal atr... ORPHA:195
Fanconi Anemia
Aplasia/Hypoplasia of fingers, Toe syndactyly, Finger syndactyly, Aplasia/Hypoplasia of the uvula... ORPHA:84
Hallermann-Streiff Syndrome
Rib exostoses, Small hand, Natal tooth, Narrow mouth, Cryptorchidism, Short foot, High, narrow pa... ORPHA:2108
Hydrops Fetalis, Nonimmune, With Gracile Bones And Dysmorphism
Thoracic hypoplasia, Upper limb undergrowth, Anteverted nares, Nonimmune hydrops fetalis, Polyhyd... OMIM:613124
Leukodystrophy, Hypomyelinating, 26, With Chondrodysplasia
Hypoplastic cervical vertebrae, Elbow dislocation, Cerebral atrophy, Knee dislocation, Small epip... OMIM:620269
Three M Syndrome 3
Slender long bone, Long philtrum, Anteverted nares, Increased vertebral height, Thick vermilion b... OMIM:614205
Mosaic Trisomy 1
Toe syndactyly, Broad 2nd toe, Agenesis of corpus callosum, Arachnodactyly, Hepatic agenesis, 2-3... ORPHA:1692
Lethal Congenital Contracture Syndrome 11
Elbow flexion contracture, Intrauterine growth retardation, Decreased fetal movement, Distal arth... OMIM:617194
Pelvis-Shoulder Dysplasia
Fifth finger distal phalanx clinodactyly, Bell-shaped thorax, Thick anterior alveolar ridges, Apl... ORPHA:2839
Mucopolysaccharidosis, Type Iiic
Recurrent upper respiratory tract infections, Heparan sulfate excretion in urine, Joint stiffness... OMIM:252930
Thoracolaryngopelvic Dysplasia
Hypoplastic iliac wing, Bell-shaped thorax, Hypoplastic pelvis, Horizontal ribs, Short ribs, Meta... OMIM:187760
Radio-Renal Syndrome
Severe short stature, Depressed nasal bridge, Multicystic kidney dysplasia, High, narrow palate, ... ORPHA:3015
Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency
Clinodactyly, Delayed skeletal maturation, Delayed eruption of teeth, Small placenta, Postnatal g... ORPHA:73272
Basilicata-Akhtar Syndrome
Gastroesophageal reflux, Downturned corners of mouth, Anteverted nares, Tented upper lip vermilio... OMIM:301032
Acyl-Coa Dehydrogenase, Medium-Chain, Deficiency Of
Hyperglycinuria, Elevated circulating hepatic transaminase concentration, Medium chain dicarboxyl... OMIM:201450
Maxillonasal Dysplasia, Binder Type
Depressed nasal bridge, Short distal phalanx of finger, Dental malocclusion, Short columella, Pat... OMIM:155050
Xerosis And Growth Failure With Immune And Pulmonary Dysfunction Syndrome
Hypoplastic nasal bridge, Long philtrum, Postnatal growth retardation, Intrauterine growth retard... OMIM:620510
Congenital Tufting Enteropathy
Cholestatic liver disease, Choanal atresia, Abnormal large intestinal mucosa morphology, Villous ... ORPHA:92050
Cole-Carpenter Syndrome
Abnormal form of the vertebral bodies, Delayed eruption of teeth, Abnormal dental enamel morpholo... ORPHA:2050
Mucopolysaccharidosis, Type Vii
Hypoplasia of the odontoid process, Limitation of joint mobility, Postnatal growth retardation, U... OMIM:253220
Cerebrofacioarticular Syndrome
Wide nasal bridge, Osteopenia, Renal hypoplasia, Anal stenosis, Caudal appendage, Tracheomalacia,... ORPHA:314679
Brachytelephalangic Chondrodysplasia Punctata
Abnormality of the costochondral junction, Hypoplastic cervical vertebrae, Postnatal growth retar... ORPHA:79345
Codas Syndrome
Depressed nasal bridge, Congenital hip dislocation, Abnormal pelvic girdle bone morphology, Hydro... ORPHA:1458
Schinzel-Giedion Syndrome
Abnormality of the ureter, Overlapping toe, Streak ovary, Overlapping fingers, Hypoplasia of the ... ORPHA:798
Diabetic Embryopathy
Spinal dysraphism, Aplasia/Hypoplasia of the corpus callosum, Cryptorchidism, Abnormality of the ... ORPHA:1926
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly
Agenesis of corpus callosum, Anal atresia, Polycystic kidney dysplasia, Cone-shaped epiphysis, Th... OMIM:613091
Meckel Syndrome, Type 8
Depressed nasal ridge, Narrow chest, Occipital encephalocele, Cleft upper lip, Encephalocele, Pol... OMIM:613885
Charge Syndrome
Lymphopenia, Postnatal growth retardation, Cryptorchidism, Micropenis, Radial head subluxation, A... OMIM:214800
Silver-Russell Syndrome Due To A Point Mutation
Short 5th finger, Microphallus, Ectrodactyly, Small placenta, Postnatal growth retardation, Intra... ORPHA:397590
Otospondylomegaepiphyseal Dysplasia
Abnormal vertebral morphology, Epiphyseal dysplasia, Limitation of joint mobility, Abnormal joint... ORPHA:1427
Camptodactyly-Joint Contractures-Facial Skeletal Defects Syndrome
Synostosis of carpal bones, Finger syndactyly, Camptodactyly of finger, Intrauterine growth retar... ORPHA:1323
Hyperglycinemia, Lactic Acidosis, And Seizures
Cerebral atrophy, Microcephaly, Joint contracture, Cerebral edema, Growth delay OMIM:614462
Simpson-Golabi-Behmel Syndrome
Multicystic kidney dysplasia, Toe syndactyly, Broad thumb, Finger syndactyly, Supernumerary nippl... ORPHA:373
Wolf-Hirschhorn Syndrome
Cryptorchidism, Agenesis of corpus callosum, Radioulnar synostosis, Short hallux, Hypospadias, Hi... OMIM:194190
Microcephaly, Short Stature, And Impaired Glucose Metabolism 2
Abnormal vertebral morphology, Renal hypoplasia, Downturned corners of mouth, Delayed skeletal ma... OMIM:616817
Hypochondroplasia
Abnormal pelvic girdle bone morphology, Abnormal form of the vertebral bodies, Short toe, Spinal ... ORPHA:429
Kagami-Ogata Syndrome
Thin ribs, Depressed nasal bridge, Pulmonary hypoplasia, Long philtrum, Anteverted nares, Bell-sh... OMIM:608149
Orofaciodigital Syndrome Xviii
Wide nasal bridge, Urinary incontinence, Short distal phalanx of finger, Cleft lip, Sandal gap, D... OMIM:617927
Monosomy 18Q
Open mouth, Arachnodactyly, High palate, Downturned corners of mouth, Delayed skeletal maturation... ORPHA:1600
Kilquist Syndrome
Choanal atresia, Pectus carinatum, Gastroesophageal reflux, Xerostomia, Intestinal malrotation, 2... OMIM:619080
Lethal Kniest-Like Dysplasia
Platyspondyly, Hypoplastic ilia, Narrow chest, Flared metaphysis, Broad long bones, Mesomelic/rhi... ORPHA:2347
Hypophosphatasia, Infantile
Unossified vertebral bodies, Vertebral clefting, Disproportionate short-limb short stature, Incre... OMIM:241500
Seckel Syndrome 1
Ivory epiphyses, Postnatal growth retardation, Pancytopenia, Cryptorchidism, Dislocated radial he... OMIM:210600
Caudal Duplication
Abnormal penis morphology, Intestinal duplication, Myelomeningocele, Cryptorchidism, Bifid sacrum... ORPHA:1756
Distal Deletion 10P
Wide nasal bridge, Intrauterine growth retardation, Joint stiffness, Cryptorchidism, Polycystic o... ORPHA:1580
Short Stature And Facioauriculothoracic Malformations
Pectus carinatum, Cleft upper lip, Cervical ribs, Abnormal odontoid process morphology, Proportio... OMIM:609654
Opsismodysplasia
Renal phosphate wasting, Hypoplasia of the odontoid process, Bell-shaped thorax, Short neck, Ante... OMIM:258480
Bent Bone Dysplasia Syndrome 2
Thin ribs, Short tibia, Hypoplastic iliac wing, Short neck, Hepatomegaly, Osteopenia, Short 1st m... OMIM:620076
Mandibulofacial Dysostosis, Guion-Almeida Type
Choanal atresia, Slender finger, Preaxial hand polydactyly, Anteverted nares, Microcephaly, Progr... OMIM:610536
Short-Rib Thoracic Dysplasia 17 With Or Without Polydactyly
Narrow chest, Postaxial foot polydactyly, Acetabular spurs, Horizontal ribs, Short ribs, Brachyda... OMIM:617405
Holt-Oram Syndrome
Broad thumb, Abnormal clavicle morphology, Finger syndactyly, Aplasia/Hypoplasia of the radius, A... ORPHA:392
Smith-Mccort Dysplasia 1
Hypoplastic scapulae, Hypoplasia of the odontoid process, Limitation of joint mobility, Genu valg... OMIM:607326
Gillessen-Kaesbach-Nishimura Syndrome
Periportal fibrosis, Underdeveloped nasal alae, Abnormal lung lobation, Oligohydramnios, Decrease... OMIM:263210
Chst3-Related Skeletal Dysplasia
Rhizomelia, Abnormal form of the vertebral bodies, Delayed eruption of teeth, Long philtrum, Irre... ORPHA:263463
Fryns Syndrome
Multicystic kidney dysplasia, Cryptorchidism, Agenesis of corpus callosum, Short neck, Anal atres... ORPHA:2059
Spondyloperipheral Dysplasia-Short Ulna Syndrome
Platyspondyly, Flattened femoral head, Aplasia/hypoplasia involving bones of the extremities, Dis... ORPHA:1856
Fetal Alcohol Syndrome
Intrauterine growth retardation, Anteverted nares, Joint stiffness, Vertebral segmentation defect... ORPHA:1915
Acrofacial Dysostosis, Catania Type
Cerebral cortical atrophy, Carious teeth, Intrauterine growth retardation, Prominent nose, Crypto... OMIM:101805
Mitochondrial Complex Iv Deficiency, Nuclear Type 22
Increased urine alpha-ketoglutarate concentration, Hepatic failure, Elevated circulating hepatic ... OMIM:619355
Fryns Syndrome
Thin ribs, Joint contracture of the hand, Cryptorchidism, Agenesis of corpus callosum, Short neck... OMIM:229850
Kagami-Ogata Syndrome
Depressed nasal bridge, Limitation of joint mobility, Thoracic hypoplasia, Pursed lips, Postnatal... ORPHA:254519
Spondyloepimetaphyseal Dysplasia, Shohat Type
Delayed epiphyseal ossification, Bell-shaped thorax, Narrow vertebral interpedicular distance, Sh... OMIM:602557
X-Linked Intellectual Disability-Global Development Delay-Facial Dysmorphism-Sacral Caudal Remnant Syndrome
Depressed nasal bridge, Broad nasal tip, Abnormal sacral segmentation, Oral-pharyngeal dysphagia,... ORPHA:480907
Citrullinemia Type Ii
Hepatic fibrosis, Elevated circulating hepatic transaminase concentration, Delayed menarche, Hepa... ORPHA:247585
Fanconi Anemia, Complementation Group B
Abnormal vertebral morphology, Bilateral radial aplasia, Aplastic anemia, Absent thumb, Abnormal ... OMIM:300514
Stuve-Wiedemann Syndrome 1
Wide nasal base, Thin ribs, Carious teeth, Short tibia, Pursed lips, Metaphyseal rarefaction, Bow... OMIM:601559
Neurodevelopmental Disorder With Spasticity, Hypomyelinating Leukodystrophy, And Brain Abnormalities
Unilateral wrist flexion contracture, Arthrogryposis multiplex congenita, Overlapping fingers, Kn... OMIM:616531
Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome Due To 10P11.21P12.31 Microdeletion
Depressed nasal bridge, Choanal atresia, Absent cupid's bow, Bulbous nose, Hypoplasia of the corp... ORPHA:284169
Spondyloepiphyseal Dysplasia-Brachydactyly And Distinctive Speech
Delayed epiphyseal ossification, Thick upper lip vermilion, Postnatal growth retardation, Hypopla... OMIM:611717
Solitary Median Maxillary Central Incisor
Choanal atresia, Anosmia, Cleft upper lip, Decreased response to growth hormone stimulation test,... OMIM:147250
Temple Syndrome Due To Maternal Uniparental Disomy Of Chromosome 14
Depressed nasal bridge, Pyloric stenosis, Bifid uvula, Small hand, Premature birth, Clinodactyly,... ORPHA:96184
Neu-Laxova Syndrome 1
Joint contracture of the hand, Toe syndactyly, Finger syndactyly, Clinodactyly, Cryptorchidism, A... OMIM:256520
X-Linked Intellectual Disability-Dysmorphism-Cerebral Atrophy Syndrome
Cerebral atrophy, Finger clinodactyly, Abnormal number of incisors, Prominent nose, Cryptorchidis... ORPHA:2958
Anauxetic Dysplasia 3
Broad middle phalanx of finger, Genu valgum, Beaking of vertebral bodies, Thoracolumbar kyphoscol... OMIM:618853
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly
Natal tooth, Short tibia, Bell-shaped thorax, Encephalocele, Cryptorchidism, Anal atresia, Flat a... OMIM:616300
Orofaciodigital Syndrome Xi
Wide nasal bridge, Hypoplasia of the odontoid process, Gastroesophageal reflux, Bulbous nose, Kyp... OMIM:612913
Lung Agenesis-Heart Defect-Thumb Anomalies Syndrome
Short distal phalanx of finger, Short thumb, Abnormal lung lobation, Preaxial hand polydactyly, A... ORPHA:1120
Epiphyseal Dysplasia, Multiple, With Early-Onset Diabetes Mellitus
Epiphyseal dysplasia, Hypoplasia of the odontoid process, Ivory epiphyses of the toes, Genu valgu... OMIM:226980
Congenital Hemidysplasia With Ichthyosiform Erythroderma And Limb Defects
Hypoplastic scapulae, Finger syndactyly, 2-5 finger syndactyly, Thyroid hypoplasia, Absent toe, S... OMIM:308050
Spondyloepimetaphyseal Dysplasia, Missouri Type
Pear-shaped vertebrae, Platyspondyly, Rhizomelia, Metaphyseal cupping, Radial bowing, Delayed ske... OMIM:602111
Mitochondrial Complex I Deficiency, Nuclear Type 20
Hepatic failure, Elevated circulating hepatic transaminase concentration, Dicarboxylic aciduria, ... OMIM:611126
Dyggve-Melchior-Clausen Disease
Hypoplastic scapulae, Hypoplasia of the odontoid process, Limitation of joint mobility, Postnatal... OMIM:223800
Baller-Gerold Syndrome
Abnormal vertebral morphology, Lambdoidal craniosynostosis, Carpal synostosis, Narrow mouth, Pate... OMIM:218600
Beare-Stevenson Cutis Gyrata Syndrome
Depressed nasal bridge, Choanal atresia, Bifid uvula, Narrow palate, Natal tooth, Anteriorly plac... OMIM:123790
Holoprosencephaly 9
Cryptorchidism, Bilateral cleft palate, Short hard palate, Short neck, Anterior pituitary hypopla... OMIM:610829
Nphp3-Related Meckel-Like Syndrome
Multicystic kidney dysplasia, Intestinal malrotation, Oligohydramnios, Abnormal biliary tract mor... ORPHA:3032
Crane-Heise Syndrome
Depressed nasal bridge, Hypoplastic scapulae, Aplastic clavicle, Toe syndactyly, Finger syndactyl... ORPHA:1512
Radial Ray Hypoplasia With Choanal Atresia
Depressed nasal bridge, Choanal atresia, Short thumb, Distally placed thumb, Choanal stenosis, Hy... OMIM:179270
Au-Kline Syndrome
Chronic kidney disease, Supernumerary nipple, Overlapping toe, Open mouth, Cryptorchidism, Breech... OMIM:616580
Johnson Neuroectodermal Syndrome
Severe short stature, Choanal atresia, Anosmia, Carious teeth, Preaxial hand polydactyly, Bulbous... ORPHA:2316
Cornelia De Lange Syndrome 5
Small hand, Toe syndactyly, Postnatal growth retardation, Cryptorchidism, Short neck, High palate... OMIM:300882
Hurler Syndrome
Abnormal vertebral morphology, Limitation of joint mobility, Short neck, Everted lower lip vermil... ORPHA:93473
Cutis Gyrata-Acanthosis Nigricans-Craniosynostosis Syndrome
Depressed nasal bridge, Choanal atresia, Anteriorly placed anus, Umbilical hernia, Tooth agenesis... ORPHA:1555
3Q29 Microdeletion Syndrome
Pectus carinatum, Abnormality of the dentition, Gastroesophageal reflux, Dental crowding, Horsesh... ORPHA:65286
Otospondylomegaepiphyseal Dysplasia, Autosomal Recessive
Epiphyseal dysplasia, Premature osteoarthritis, Beaking of vertebral bodies, Pierre-Robin sequenc... OMIM:215150
Mucopolysaccharidosis, Type Vi
Epiphyseal dysplasia, Hypoplasia of the odontoid process, Carious teeth, Hypoplastic iliac wing, ... OMIM:253200
Arnold-Chiari Malformation Type I
Myelopathy, Stiff neck, Cervical C2/C3 vertebral fusion, Dysphagia, Anteriorly placed odontoid pr... ORPHA:268882
Thin Ribs-Tubular Bones-Dysmorphism Syndrome
Abnormal pelvic girdle bone morphology, Slender long bone, Intrauterine growth retardation, Abnor... ORPHA:1506
Chondrodysplasia With Joint Dislocations, Gpapp Type
Genu valgum, Narrow mouth, Intervertebral space narrowing, Radial head subluxation, Patellar disl... OMIM:614078
Emanuel Syndrome
Tooth malposition, Cryptorchidism, Agenesis of corpus callosum, Breech presentation, High palate,... ORPHA:96170
Dysosteosclerosis
Natal tooth, Sclerosis of hand bone, Increased intervertebral space, Diaphyseal undertubulation, ... OMIM:224300
Tetraamelia Syndrome 1
Choanal atresia, Abnormal clavicle morphology, Abnormal scapula morphology, Cleft upper lip, Hypo... OMIM:273395
Holoprosencephaly 13, X-Linked
Gastroesophageal reflux, Thoracic hemivertebrae, Butterfly vertebrae, Median cleft palate, Submuc... OMIM:301043
Infantile-Onset X-Linked Spinal Muscular Atrophy
Ankle flexion contracture, Interphalangeal joint contracture of finger, Elbow flexion contracture... ORPHA:1145
Hypogonadism, Male, With Impaired Intellectual Development And Skeletal Anomalies
Abnormality of the cervical spine, Superior rib anomalies OMIM:307500
Diphallia
Penoscrotal transposition, Gastrointestinal duplication, Absent thumb, Duplicated colon, Horsesho... ORPHA:227
Coffin-Siris Syndrome 3
Abnormal corpus callosum morphology, Depressed nasal bridge, Delayed skeletal maturation, Umbilic... OMIM:614608
Acrodysplasia Scoliosis
Spina bifida occulta, Scoliosis, Brachydactyly, Vertebral segmentation defect ORPHA:2956
Trisomy 20P
Finger syndactyly, Abnormality of the ureter, Cryptorchidism, Short neck, Everted lower lip vermi... ORPHA:261318
Arthrogryposis, Distal, Type 3
Overlapping toe, Cutaneous finger syndactyly, Cryptorchidism, Short neck, Thoracolumbar scoliosis... OMIM:114300
Joubert Syndrome 18
Occipital encephalocele, Horseshoe kidney, Intrauterine growth retardation, Trident pelvis, Agene... OMIM:614815
Shwachman-Diamond Syndrome 1
Persistence of hemoglobin F, Pancytopenia, Irregular ossification at anterior rib ends, Acute mye... OMIM:260400
Kniest Dysplasia
Delayed epiphyseal ossification, Limitation of joint mobility, Hip contracture, Short neck, Dispr... OMIM:156550
Cole-Carpenter Syndrome 2
Platyspondyly, Thin ribs, Lambdoidal craniosynostosis, Osteopenia, Coronal craniosynostosis, Dent... OMIM:616294
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome
Abnormal vertebral morphology, Small hand, Aspiration pneumonia, High palate, Hypospadias, Short ... ORPHA:444077
Osteomesopyknosis
Sclerotic vertebral body, Abnormal form of the vertebral bodies, Increased bone mineral density, ... ORPHA:2777
Aicardi Syndrome
Small hand, Hepatoblastoma, Gastroesophageal reflux, Polymicrogyria, Butterfly vertebrae, Missing... ORPHA:50
Congenital Disorder Of Glycosylation, Type Iiw
Microcytic anemia, Ankyloglossia, Hepatic steatosis, Elevated circulating alanine aminotransferas... OMIM:619525
Nijmegen Breakage Syndrome
Recurrent bronchitis, Long nose, Anal atresia, Choanal atresia, Autoimmune hemolytic anemia, Bron... OMIM:251260
Wild Type Abeta2M Amyloidosis
Gastrointestinal hemorrhage, Intestinal pseudo-obstruction, Abnormal shoulder morphology, Arthrop... ORPHA:85446
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome
Atlantoaxial dislocation, Carious teeth, Postnatal growth retardation, Dysplasia of the femoral h... ORPHA:536467
Osteogenesis Imperfecta, Type Xviii
Wide nasal bridge, Thin ribs, Abnormality of the dentition, Umbilical hernia, Femoral bowing, Bic... OMIM:617952
Cantú Syndrome
Finger syndactyly, Short neck, Short hallux, Ovoid vertebral bodies, Delayed skeletal maturation,... ORPHA:1517
Mucopolysaccharidosis, Type Iiib
Recurrent upper respiratory tract infections, Heparan sulfate excretion in urine, Joint stiffness... OMIM:252920
Cog1-Cdg
Temporal cortical atrophy, Postnatal growth retardation, Hepatosplenomegaly, Narrow mouth, Short ... ORPHA:263508
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 2
Oral-pharyngeal dysphagia, Postnatal growth retardation, Long nose, Hypospadias, Pierre-Robin seq... OMIM:619184
Pierre Robin Sequence With Pectus Excavatum And Rib And Scapular Anomalies
Joint hypermobility, Abnormal rib morphology, Pectus excavatum, Cleft palate, Hypoplastic distal ... OMIM:602196
Ulbright-Hodes Syndrome
Thin ribs, Postnatal growth retardation, Fibular aplasia, Narrow mouth, Cryptorchidism, Humerorad... ORPHA:3404
Kcnq2-Related Epileptic Encephalopathy
Cerebral atrophy, Abnormal globus pallidus morphology, Hypoplasia of the corpus callosum, Abnorma... ORPHA:439218
Osteogenesis Imperfecta, Type V
Platyspondyly, Osteopenia, Abnormal pelvic girdle bone morphology, Dentinogenesis imperfecta, Ver... OMIM:610967
Rhizomelic Chondrodysplasia Punctata, Type 1
Severe short stature, Depressed nasal bridge, Rhizomelia, Cerebral cortical atrophy, Flared metap... OMIM:215100
Osteogenesis Imperfecta, Type X
Thin ribs, Genu valgum, Fibular bowing, Bowing of the long bones, Osteopenia, Thoracic hypoplasia... OMIM:613848
Triploidy
Narrow chest, Finger syndactyly, Non-midline cleft of the upper lip, Aplasia/Hypoplasia of the co... ORPHA:3376
Rhizomelic Skeletal Dysplasia With Or Without Pelger-Huet Anomaly
Radial bowing, Genu valgum, Thoracolumbar scoliosis, Metaphyseal dysplasia, Ovoid vertebral bodie... OMIM:618019
Progressive Spondyloepimetaphyseal Dysplasia-Short Stature-Short Fourth Metatarsals-Intellectual Disability Syndrome
Overlapping toe, Genu valgum, Hypoplasia of the corpus callosum, Carpal bone hypoplasia, Short ne... ORPHA:457395
Mucopolysaccharidosis Type 7
Anterior beaking of lower thoracic vertebrae, Hepatitis, Umbilical hernia, Lymphedema, Ascites, A... ORPHA:584
Congenital Disorder Of Glycosylation, Type Iil
Inflammation of the large intestine, Cholestasis, Pancytopenia, Hypoplasia of the corpus callosum... OMIM:614576
10Q22.3Q23.3 Microduplication Syndrome
Abnormality of the dentition, Abnormal clavicle morphology, Microcephaly, Abnormality of the phil... ORPHA:276422
Combined Oxidative Phosphorylation Deficiency 59
Cerebral edema, Cholelithiasis, Abnormal basal ganglia MRI signal intensity, Dicarboxylic aciduria OMIM:620646
Autosomal Recessive Kenny-Caffey Syndrome
Thin ribs, Small hand, Carious teeth, Delayed skeletal maturation, Delayed cranial suture closure... ORPHA:93324
Frank-Ter Haar Syndrome
Wide nasal bridge, Depressed nasal bridge, Genu recurvatum, Delayed eruption of teeth, Umbilical ... ORPHA:137834
Severe Congenital Nemaline Myopathy
Thin ribs, Pulmonary hypoplasia, Arthrogryposis multiplex congenita, Abnormal thorax morphology, ... ORPHA:171430
Hypocalcemic Vitamin D-Resistant Rickets
Hyperparathyroidism, Abnormality of the dentition, Joint dislocation, Abnormal form of the verteb... ORPHA:93160
Temple Syndrome
Depressed nasal bridge, Bifid uvula, Small hand, Premature birth, Clinodactyly, Flexion contractu... OMIM:616222
Chopra-Amiel-Gordon Syndrome
Flared nostrils, Unilateral renal agenesis, Cleft lip, Delayed skeletal maturation, Thick nasal a... OMIM:619504
Alopecia-Contractures-Dwarfism-Intellectual Disability Syndrome
Severe short stature, Hip dislocation, Synostosis of carpal bones, Moderate postnatal growth reta... ORPHA:1005
Congenital Hypotonia, Epilepsy, Developmental Delay, And Digital Anomalies
Overlapping toe, Overlapping fingers, Open mouth, Cryptorchidism, Hypoplasia of the corpus callos... OMIM:618494
Hypophosphatasia
Abnormality of the dentition, Narrow chest, Emphysema, Abnormal metaphysis morphology, Bowing of ... ORPHA:436
Cerebrocostomandibular Syndrome
Carious teeth, Postnatal growth retardation, Cleft soft palate, Bell-shaped thorax, Short hard pa... OMIM:117650
Myhre Syndrome
Limitation of joint mobility, Clinodactyly, Hypoplastic iliac wing, Enlarged vertebral pedicles, ... OMIM:139210
Glycogen Storage Disease Iv
Hepatic failure, Ascites, Hepatosplenomegaly, Portal hypertension, Decreased fetal movement, Esop... OMIM:232500
Larsen Syndrome
Depressed nasal bridge, Short distal phalanx of finger, Broad thumb, Broad distal phalanx of fing... ORPHA:503
Myotonia With Skeletal Abnormalities And Impaired Intellectual Development
Pectus carinatum, Vertebral wedging, Irregular femoral epiphysis, Bell-shaped thorax, Genu valgum... OMIM:255710
Encephalopathy, Acute, Infection-Induced, Susceptibility To, 3
Pneumonia, Cerebral edema OMIM:608033
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome
Absent gallbladder, Cryptorchidism, Micropenis, Hypospadias, Hyperextensibility of the finger joi... ORPHA:163979
Spondyloepiphyseal Dysplasia Congenita
Hypoplasia of the odontoid process, Limited hip movement, Delayed pubic bone ossification, Barrel... OMIM:183900
Ulnar Hemimelia
Abnormal upper limb bone morphology, Hypoplastic scapulae, Short forearm, Radial bowing, Abnormal... ORPHA:93320
Lymphangiectasia, Intestinal
Intestinal lymphangiectasia, Lymphopenia, Stillbirth, Prominent floating ribs, Edema, Pedal edema OMIM:152800
Multiple Pterygium-Malignant Hyperthermia Syndrome
Finger syndactyly, Narrow mouth, Cryptorchidism, Arachnodactyly, Ulnar deviation of finger, Downt... ORPHA:2215
Glioblastoma
Abnormal corpus callosum morphology, Cerebral edema, Abnormal cerebral white matter morphology ORPHA:360
Distal Monosomy 7Q36
Bulbous nose, Clinodactyly of the 5th finger, Cryptorchidism, Symphalangism affecting the phalang... ORPHA:1636
Acyl-Coa Dehydrogenase 9 Deficiency
Elevated circulating hepatic transaminase concentration, Dicarboxylic aciduria, Acute hepatic fai... ORPHA:99901
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 3
Toe syndactyly, Xerostomia, Ureterocele, Carious teeth, Cryptorchidism, Absence of Stensen duct, ... OMIM:604292
Scarf Syndrome
Wide nasal base, Pectus carinatum, Abnormal form of the vertebral bodies, Long philtrum, Umbilica... ORPHA:3134
Maple Syrup Urine Disease, Type Ia
Cerebral edema, Pancreatitis, Increased level of hippuric acid in urine, Positive 2,4-dinitrophen... OMIM:248600
Rajab Interstitial Lung Disease With Brain Calcifications 1
Cholestasis, Pancytopenia, Cerebral calcification, Hepatic steatosis, Cirrhosis, High palate, Bil... OMIM:613658
Tarp Syndrome
Finger syndactyly, Extramedullary hematopoiesis, Clinodactyly, Cryptorchidism, Pierre-Robin seque... ORPHA:2886
Tonne-Kalscheuer Syndrome
Wide nasal bridge, Hypospadias, Broad thumb, Velopharyngeal insufficiency, Downturned corners of ... OMIM:300978
Short Rib-Polydactyly Syndrome, Verma-Naumoff Type
Abnormal pelvis bone ossification, Cryptorchidism, Congenital hepatic fibrosis, Agenesis of corpu... ORPHA:93271
Wieacker-Wolff Syndrome, Female-Restricted
Hip contracture, Short neck, Urinary incontinence, Dysphagia, Hip dislocation, U-Shaped upper lip... OMIM:301041
Faundes-Banka Syndrome
Lumbar hemivertebrae, Fetal ascites, Gastroesophageal reflux, Underdeveloped nasal alae, Bulbous ... OMIM:619376
Becker Nevus Syndrome
Pectus carinatum, Supernumerary nipple, Abnormal tibia morphology, Rib fusion, Supernumerary ribs... ORPHA:64755
Angiostrongyliasis
Stiff neck, Cerebral edema, Hypereosinophilia, Gastrointestinal eosinophilia ORPHA:74
Trisomy 1Q
Depressed nasal bridge, Multicystic kidney dysplasia, Toe syndactyly, Short thorax, Camptodactyly... ORPHA:261344
Hypertelorism, Microtia, Facial Clefting Syndrome
Abnormal vertebral morphology, Short 5th finger, Tessier cleft, Broad nasal tip, Abnormality of t... OMIM:239800
Placental Insufficiency
Abnormal umbilical cord blood vessel morphology, Small placenta, Intrauterine growth retardation,... ORPHA:439167
Crouzon Syndrome With Acanthosis Nigricans
Choanal atresia, Craniosynostosis OMIM:612247
Kaposiform Lymphangiomatosis
Hepatosplenomegaly, Abnormal thoracic spine morphology, Abnormal spleen morphology, Abnormal pelv... ORPHA:464329
Short-Rib Thoracic Dysplasia 8 With Or Without Polydactyly
Depressed nasal bridge, Narrow chest, Pulmonary hypoplasia, Thoracic dysplasia, Preaxial polydact... OMIM:615503
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome
Open mouth, Cryptorchidism, Hypoplasia of the corpus callosum, High palate, Osteopenia, Gastroeso... ORPHA:453499
Stickler Syndrome, Type I
Arachnodactyly, Beaking of vertebral bodies, Pierre-Robin sequence, Abnormal femoral epiphysis mo... OMIM:108300
Syndromic Multisystem Autoimmune Disease Due To Itch Deficiency
Choanal atresia, Clinodactyly, Hepatitis, Acute hepatic failure, Hepatosplenomegaly, Pancytopenia... ORPHA:228426
Short-Rib Thoracic Dysplasia 14 With Polydactyly
Depressed nasal bridge, Narrow chest, Aplastic clavicle, Polymicrogyria, Hamartoma of tongue, Pre... OMIM:616546
Spondylometaepiphyseal Dysplasia, Short Limb-Hand Type
Hypoplasia of the odontoid process, Broad long bones, Bell-shaped thorax, Short neck, Anterior ri... OMIM:271665
Pentalogy Of Cantrell
Hypospadias, Aplasia/Hypoplasia of the radius, Polysplenia, Abnormal sternum morphology, Abnormal... ORPHA:1335
Spondyloepiphyseal Dysplasia Congenita
Dysplasia of the femoral head, Genu valgum, Barrel-shaped chest, Limited elbow movement, Short ne... ORPHA:94068
Microgastria-Limb Reduction Defect Syndrome
Multicystic kidney dysplasia, Elbow dislocation, Abnormality of the spleen, Esophagitis, Perineal... ORPHA:2538
Osteogenesis Imperfecta, Type Iii
Thin ribs, Dentinogenesis imperfecta, Neonatal short-limb short stature, Disproportionate short-l... OMIM:259420
Japanese Encephalitis
Genu recurvatum, Abnormality of the internal capsule, Abnormal substantia nigra morphology, Stiff... ORPHA:79139
Craniometadiaphyseal Dysplasia
Osteopenia, Carious teeth, Natal tooth, Dental crowding, Flared metaphysis, Broad long bones, Bro... OMIM:269300
Intellectual Developmental Disorder, Autosomal Dominant 6, With Or Without Seizures
Choanal atresia, Microcephaly, Cryptorchidism OMIM:613970
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly
Chronic kidney disease, Hypoplastic iliac wing, Foot polydactyly, Jaundice, Cone-shaped epiphyses... OMIM:208500
Spondyloperipheral Dysplasia
Broad thumb, Absent styloid process of ulna, Barrel-shaped chest, Short neck, Flat acetabular roo... OMIM:271700
Hardikar Syndrome
Portal inflammation, Cholestasis, Hepatosplenomegaly, Hypersplenism, Cleft soft palate, Bilateral... OMIM:301068
Marcus-Gunn Syndrome
Choanal atresia, Cleft lip, Postnatal growth retardation, Abnormality of the sense of smell, Neph... ORPHA:91412
Coffin-Siris Syndrome 6
High, narrow palate, Depressed nasal bridge, Broad nasal tip, Gastroesophageal reflux, Clinodacty... OMIM:617808
Myhre Syndrome
Narrow mouth, Cryptorchidism, Hypospadias, Epispadias, Abnormal penis morphology, Submucous cleft... ORPHA:2588
Gaucher Disease, Perinatal Lethal
Everted upper lip vermilion, Hepatosplenomegaly, Open mouth, Narrow mouth, Neonatal death, Everte... OMIM:608013
Familial Osteodysplasia, Anderson Type
Depressed nasal ridge, Aplastic clavicle, Bifid femur, Tooth malposition, Abnormal form of the ve... ORPHA:2769
Spondyloepimetaphyseal Dysplasia, Shohat Type
Abnormal vertebral morphology, Delayed epiphyseal ossification, Premature osteoarthritis, Hepatos... ORPHA:93352
ERI1-related disease
Velopharyngeal insufficiency, Patellar dislocation, Finger joint hypermobility, Dislocated radial... OMIM:608739
Diarrhea 3, Secretory Sodium, Congenital, With Or Without Other Congenital Anomalies
Choanal atresia, Intestinal malrotation, Polyhydramnios, Ureteral duplication, Anal atresia, Rect... OMIM:270420
Isolated Osteopoikilosis
Sclerotic foci within carpal bones, Tarsal sclerosis, Limitation of joint mobility, Abnormal pelv... ORPHA:166119
Spondyloepiphyseal Dysplasia Tarda, X-Linked
Platyspondyly, Hip osteoarthritis, Hump-shaped mound of bone in central and posterior portions of... OMIM:313400
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly
Depressed nasal bridge, Narrow chest, Pulmonary hypoplasia, Hypoplastic ilia, Thoracic hypoplasia... OMIM:617895
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease
Hepatic fibrosis, Periportal fibrosis, Multiple small medullary renal cysts, Oligohydramnios, Ren... OMIM:263200
Mirror Polydactyly-Vertebral Segmentation-Limbs Defects Syndrome
Vertebral segmentation defect, Aplasia of the thymus, Split hand, Short stature, Foot polydactyly... ORPHA:3004
Alg3-Cdg
Macroglossia, Osteopenia, Arthrogryposis multiplex congenita, Abnormality of the nose, Decreased ... ORPHA:79321
Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 1
Cervical myelopathy, Leukoencephalopathy, Myelopathy, Cerebral white matter atrophy, Cerebral edema OMIM:617186
Schneckenbecken Dysplasia
Hypoplastic ilia, Hypoplastic scapulae, Narrow chest, Disproportionate short-limb short stature, ... ORPHA:3144
Osteogenesis Imperfecta, Type Xvi
Platyspondyly, Osteopenia, Rhizomelia, Narrow chest, Tooth agenesis, Decreased calvarial ossifica... OMIM:616229
Spondylodysplastic Ehlers-Danlos Syndrome
Abnormal vertebral morphology, Subluxation of the small joints of the hand, Dysplasia of the femo... ORPHA:536471
Spondyloepiphyseal Dysplasia Tarda, Autosomal Dominant
Platyspondyly, Pectus carinatum, Hypoplasia of the odontoid process, Lumbar hyperlordosis, Avascu... OMIM:184100
Renal Tubular Dysgenesis
Nephropathy, Pulmonary hypoplasia, Proximal tubulopathy, Oligohydramnios, Joint hypermobility, Mi... ORPHA:3033
Microcephaly 30, Primary, Autosomal Recessive
Cerebral cortical atrophy, Fetal distress, Intrauterine growth retardation, Increased nuchal tran... OMIM:620183
Czeizel-Losonci Syndrome
1-2 finger syndactyly, Clubbing of toes, Ectrodactyly, Myelomeningocele, Ureteral agenesis, High ... ORPHA:2437
Anauxetic Dysplasia 1
Atlantoaxial dislocation, Barrel-shaped chest, Hip contracture, Short neck, Short foot, Hypoplast... OMIM:607095
Myotubular Myopathy With Abnormal Genital Development
Thin ribs, Atelectasis, Bilateral cryptorchidism, Glandular hypospadias, Penile hypospadias, Decr... OMIM:300219
Diaphragmatic Defect-Limb Deficiency-Skull Defect Syndrome
Aplasia/Hypoplasia of the radius, Finger syndactyly, Abnormal scapula morphology, Abnormal femur ... ORPHA:2141
Coffin-Lowry Syndrome
Aplasia/Hypoplasia of the corpus callosum, Open mouth, Everted lower lip vermilion, High palate, ... ORPHA:192
Arthrogryposis, Cleft Palate, Craniosynostosis, And Impaired Intellectual Development
Thin ribs, Slender long bone, Vesicoureteral reflux, Nonimmune hydrops fetalis, Hydronephrosis, D... OMIM:618265
Dyskeratosis Congenita
Carious teeth, Periodontitis, Cerebral calcification, Displacement of the urethral meatus, Cirrho... ORPHA:1775
Xylt1-Cdg
Broad thumb, Joint dislocation, Clinodactyly, Short femoral neck, Flared metaphysis, Long philtru... ORPHA:370930
Leri Pleonosteosis
Severe short stature, Genu recurvatum, Broad thumb, Abnormal epiphysis morphology, Abnormal form ... ORPHA:2900
Omodysplasia 2
Limited elbow flexion, Cryptorchidism, Dislocated radial head, Hypospadias, Hypoplastic distal hu... OMIM:164745
Orofaciodigital Syndrome Ii
Postaxial foot polydactyly, High palate, Syndactyly, Accessory oral frenulum, Broad nasal tip, Pr... OMIM:252100
Cryptococcosis
Pneumonia, Cerebral cortical atrophy, Osteomyelitis, Nodular pattern on pulmonary HRCT, Pleural e... ORPHA:1546
Schwartz-Jampel Syndrome
Elbow dislocation, Pursed lips, Abnormality of the ureter, Genu valgum, Narrow mouth, Hip contrac... ORPHA:800
Rhizomelic Dysplasia, Patterson-Lowry Type
Depressed nasal ridge, Rhizomelia, Deviation of finger, Abnormal form of the vertebral bodies, Ge... ORPHA:2831
Antley-Bixler Syndrome With Genital Anomalies And Disordered Steroidogenesis
Joint contracture of the hand, Carpal synostosis, Cryptorchidism, Ovarian cyst, Polycystic ovarie... OMIM:201750
Mucopolysaccharidosis Type 1
Everted lower lip vermilion, Joint dislocation, Thick nasal alae, Mucopolysacchariduria, Abnormal... ORPHA:579
Acrodysostosis
Open bite, Open mouth, Cryptorchidism, Bowing of the long bones, Abnormal metacarpal morphology, ... ORPHA:950
2Q31.1 Microdeletion Syndrome
Toe syndactyly, Finger syndactyly, Abnormal tibia morphology, Cryptorchidism, Short neck, Abnorma... ORPHA:251014
Microphthalmia, Syndromic 12
Wide nasal bridge, Broad nasal tip, Intestinal malrotation, Cryptorchidism, Neonatal death, Cleft... OMIM:615524
Fountain Syndrome
Facial edema, Short distal phalanx of finger, Coarse metaphyseal trabecularization, Abnormal form... ORPHA:3219
Verloove Vanhorick-Brubakk Syndrome
Abnormal pelvic girdle bone morphology, Abnormal form of the vertebral bodies, Abnormality of the... ORPHA:3429
Hyper-Ige Syndrome 1, Autosomal Dominant, With Recurrent Infections
Pulmonary cyst, Eosinophilic infiltration of the esophagus, High palate, Duodenal ulcer, Dysphagi... OMIM:147060
Treacher Collins Syndrome 4
Microcephaly, Choanal stenosis, Cleft palate OMIM:618939
Eec Syndrome
Toe syndactyly, Xerostomia, Finger syndactyly, Carious teeth, Aplasia/Hypoplasia of the thumb, Hy... ORPHA:1896
Braddock-Carey Syndrome 1
Wide nasal bridge, Multicystic kidney dysplasia, Small hand, Clinodactyly, Anteriorly placed anus... OMIM:619980
Coach Syndrome 1
Unilateral renal agenesis, Hepatic fibrosis, Nephronophthisis, Occipital encephalocele, Elevated ... OMIM:216360
Kyphomelic Dysplasia
Limitation of joint mobility, Radial bowing, Anterior rib cupping, Flat acetabular roof, Short me... OMIM:211350
Acute Disseminated Encephalomyelitis
Diffuse white matter abnormalities, Abnormal basal ganglia morphology, Abnormal periventricular w... ORPHA:83597
Emanuel Syndrome
Cryptorchidism, Hypoplasia of the corpus callosum, Delayed eruption of primary teeth, Anal atresi... OMIM:609029
Acrocapitofemoral Dysplasia
Radial bowing, Short tibia, Hypoplastic iliac wing, Dysplasia of the femoral head, Cone-shaped ep... OMIM:607778
Congenital Myopathy 1B, Autosomal Recessive
Recurrent respiratory infections, Decreased fetal movement, Joint hypermobility, Polyhydramnios, ... OMIM:255320
Sialidosis Type 1
Wide nasal bridge, Aminoaciduria, Pectus carinatum, Abnormal form of the vertebral bodies, Urinar... ORPHA:812
Multiple Synostoses Syndrome 1
Hypoplastic nasal septum, Carpal synostosis, Thick upper lip vermilion, Cutaneous finger syndacty... OMIM:186500
Hoxha-Aliu Syndrome
Abnormal vertebral morphology, Overlapping toe, Absent fifth metatarsal, Patellar dislocation, Hi... OMIM:620662
Trisomy 8Q
Wide nasal bridge, Camptodactyly of finger, Myelomeningocele, Joint stiffness, Cryptorchidism, Lo... ORPHA:1752
Herpes Simplex Virus Encephalitis
Cerebral edema, Leukocytosis, Neutrophilia ORPHA:1930
Trisomy 17P
Narrow mouth, Short neck, High palate, Polycystic kidney dysplasia, Wide nose, Thick nasal alae, ... ORPHA:261290
Galloway-Mowat Syndrome 7
Focal segmental glomerulosclerosis, Minimal change glomerulonephritis, Cleft lip, Clinodactyly, S... OMIM:618348
Encephalopathy, Acute, Infection-Induced, Susceptibility To, 4
Cerebral edema OMIM:614212
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 5
Macroglossia, Exercise-induced myoglobinuria, Hyperlordosis, Achilles tendon contracture, Vertebr... OMIM:607155
Supernumerary Nostril
Tessier cleft, Choanal atresia, Supernumerary naris ORPHA:141096
Otopalatodigital Syndrome, Type I
Toe syndactyly, Synostosis of carpal bones, Narrow mouth, Short hallux, Dislocated radial head, H... OMIM:311300
Metaphyseal Dysostosis, Impaired Intellectual Development, And Conductive Deafness
Genu valgum, Carpal bone hypoplasia, Broad phalanx, Metaphyseal dysplasia, Short foot, Genu varum... OMIM:250420
Mucopolysaccharidosis, Type Iiid
Epiphyseal dysplasia, Short neck, Ovoid thoracolumbar vertebrae, Hepatomegaly, Dysphagia, Pilonid... OMIM:252940
Aarskog-Scott Syndrome
Elevated circulating luteinizing hormone level, Cervical spine hypermobility, Hypoplasia of the o... OMIM:305400
Weismann-Netter Syndrome
Severe short stature, Aplasia/Hypoplasia of the radius, Abnormal form of the vertebral bodies, Ab... ORPHA:3344
Geroderma Osteodysplastica
Severe short stature, Platyspondyly, Pectus carinatum, Abnormal epiphysis morphology, Abnormal fo... ORPHA:2078
Spondyloepimetaphyseal Dysplasia, Guo-Campeau Type
Velopharyngeal insufficiency, Clinodactyly of the 2nd finger, Diaphyseal undertubulation, Patella... OMIM:620663
Mucolipidosis Ii Alpha/Beta
Bullet-shaped phalanges of the hand, Atlantoaxial dislocation, Hypoplastic scapulae, Hypoplasia o... OMIM:252500
Cerebroretinal Microangiopathy With Calcifications And Cysts 2
Abnormally low T cell receptor excision circle level, Bone marrow hypocellularity, Gastrointestin... OMIM:617341
Maternal Uniparental Disomy Of Chromosome 2
Hypospadias, Pulmonary hypoplasia, Abnormality of the ankle, Contractures of the large joints, Bi... ORPHA:96179
Lacrimoauriculodentodigital Syndrome
Toe syndactyly, Xerostomia, Finger syndactyly, Clinodactyly, Carious teeth, Cryptorchidism, Dysph... ORPHA:2363
Jacobsen Syndrome
Multicystic kidney dysplasia, Toe syndactyly, Finger syndactyly, Long hallux, Cryptorchidism, Age... ORPHA:2308
Solitary Bone Cyst
Abnormal ilium morphology, Abnormal form of the vertebral bodies, Pathologic fracture, Abnormal t... ORPHA:83468
Lethal Congenital Contracture Syndrome 9
Axillary pterygium, Depressed nasal bridge, Joint contracture of the hand, Congenital contracture... OMIM:616503
Acromesomelic Dysplasia 4
Radial bowing, Prominent deltoid tuberosities, Genu valgum, Beaking of vertebral bodies, Broad to... OMIM:619636
Kenny-Caffey Syndrome, Type 1
Thin ribs, Small hand, Carious teeth, Slender long bone, Delayed skeletal maturation, Intrauterin... OMIM:244460
Intellectual Disability, Buenos-Aires Type
Wide nasal bridge, Pectus carinatum, Cuboid-shaped thoracolumbar vertebral bodies, Abnormal pelvi... ORPHA:3079
Ichthyosis Follicularis-Alopecia-Photophobia Syndrome
Abnormal vertebral morphology, Cryptorchidism, Agenesis of corpus callosum, Abnormal pelvis bone ... ORPHA:2273
Cervical Ribs, Sprengel Anomaly, Anal Atresia, And Urethral Obstruction
Urethral obstruction, Renal hypoplasia, Cervical ribs, Preaxial hand polydactyly, Sprengel anomal... OMIM:601389
Mitochondrial Complex I Deficiency, Nuclear Type 1
Leukoencephalopathy, Hypospadias, Hepatic failure, Focal T2 hyperintense basal ganglia lesion, Sp... OMIM:252010
Bilateral Perisylvian Polymicrogyria
Ectopic posterior pituitary, Choanal atresia, Bilateral perisylvian polymicrogyria, Gastroesophag... ORPHA:98889
Hyperparathyroidism, Transient Neonatal
Thin ribs, Fractured rib, Ovarian cyst, Osteopenia, Gastroesophageal reflux, Femoral bowing, Undu... OMIM:618188
Meckel Syndrome, Type 1
Postaxial foot polydactyly, Occipital encephalocele, Clinodactyly, Natal tooth, Abnormality of th... OMIM:249000
Monosomy 18P
Wide nasal bridge, Tooth malposition, Carious teeth, Downturned corners of mouth, Lymphedema, Kyp... ORPHA:1598
Hurler Syndrome
Hypoplasia of the odontoid process, Hepatosplenomegaly, Urinary glycosaminoglycan excretion, Shor... OMIM:607014
Simpson-Golabi-Behmel Syndrome, Type 1
Broad thumb, Exaggerated median tongue furrow, Supernumerary nipple, Cryptorchidism, Agenesis of ... OMIM:312870
Holt-Oram Syndrome
Hypoplastic scapulae, Short forearm, Elbow dislocation, Radial bowing, Cleft soft palate, Ulnar d... OMIM:142900
Osteogenesis Imperfecta
Thin ribs, Carious teeth, Abnormal tibia morphology, Enlarged vertebral pedicles, Genu valgum, In... ORPHA:666
Acrofacial Dysostosis, Palagonia Type
High, narrow palate, Small hand, Abnormal form of the vertebral bodies, Delayed skeletal maturati... ORPHA:1787
Wolf-Hirschhorn Syndrome
Abnormal vertebral morphology, Cryptorchidism, Agenesis of corpus callosum, Arachnodactyly, Short... ORPHA:280
Richieri Costa-Da Silva Syndrome
Pectus carinatum, Vertebral wedging, Decreased anterioposterior diameter of lumbar vertebral bodi... ORPHA:3101
Short-Rib Thoracic Dysplasia 18 With Polydactyly
Platyspondyly, Vertebral wedging, Thoracic hypoplasia, Radial bowing, Intestinal malrotation, Pre... OMIM:617866
Autosomal Recessive Stickler Syndrome
Platyspondyly, Epiphyseal dysplasia, Abnormal epiphysis morphology, Genu valgum, Joint hypermobil... ORPHA:250984
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly
Cryptorchidism, Short neck, Pulmonary lymphangiectasia, Hepatomegaly, High palate, Lymphedema, As... OMIM:235255
Fucosidosis
Barrel-shaped chest, Beaking of vertebral bodies, Absent/hypoplastic coccyx, Anterior beaking of ... OMIM:230000
Ethylene Glycol Poisoning
Renal insufficiency, Renal tubular dysfunction, Pulmonary edema, Hematuria, Gastritis, Decreased ... ORPHA:31826
Gm1-Gangliosidosis, Type Ii
Platyspondyly, Thoracolumbar kyphosis, Cerebral atrophy, Sea-blue histiocytosis, Joint stiffness,... OMIM:230600
Retinitis Pigmentosa 89
Hepatic fibrosis, Micronodular cirrhosis, Hepatosplenomegaly, Intrahepatic bile duct dilatation, ... OMIM:618955
Campomelic Dysplasia
Thin ribs, Delayed epiphyseal ossification, Hypoplastic scapulae, Carious teeth, Hypoplastic cerv... OMIM:114290
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 1
Toe syndactyly, Xerostomia, Ureterocele, Carious teeth, Cryptorchidism, Absence of Stensen duct, ... OMIM:129900
Genitopalatocardiac Syndrome
Wide nasal bridge, Hypospadias, Multicystic kidney dysplasia, Downturned corners of mouth, Non-mi... ORPHA:2075
X-Linked Myotubular Myopathy-Abnormal Genitalia Syndrome
Thin ribs, Glandular hypospadias, Penile hypospadias, Cryptorchidism, Joint hypermobility, Penosc... ORPHA:456328
Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 2
Cerebral edema, Pancytopenia, Abnormal cerebral white matter morphology, Cerebral atrophy OMIM:618321
Osteopathia Striata With Cranial Sclerosis
Multicystic kidney dysplasia, Joint contracture of the hand, Natal tooth, Fibular aplasia, Arachn... OMIM:300373
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 1, With Or Without Fractures
Epiphyseal dysplasia, Radial bowing, Carpal synostosis, Genu valgum, Short neck, Hypoplastic ilia... OMIM:271640
Amoebiasis Due To Free-Living Amoebae
Pneumonia, Increased red blood cell count, Abnormal cerebral cortex morphology, Stiff neck, Abnor... ORPHA:68
Acrofacial Dysostosis, Rodríguez Type
Finger aplasia, Abnormal pelvic girdle bone morphology, Aplasia/Hypoplasia of the radius, Abnorma... ORPHA:1788
17Q12 Microduplication Syndrome
Abnormal vertebral morphology, Toe syndactyly, Finger syndactyly, Tracheoesophageal fistula, Poly... ORPHA:261272
Familial Acute Necrotizing Encephalopathy
Cerebral edema, Abnormal putamen morphology ORPHA:88619
Spondyloepimetaphyseal Dysplasia, Sponastrime Type
Genu valgum, Narrow vertebral interpedicular distance, Lumbar interpedicular narrowing, Neutropen... OMIM:271510
Scarf Syndrome
Wide nasal bridge, Pectus carinatum, Lambdoidal craniosynostosis, Coronal craniosynostosis, Abnor... OMIM:312830
Distal Triplication 15Q
Scoliosis, Abnormal sternum morphology, Horseshoe kidney, Flexion contracture, Intrauterine growt... ORPHA:314588
Stickler Syndrome Type 1
Platyspondyly, Abnormal epiphysis morphology, Long philtrum, Abnormal vertebral epiphysis morphol... ORPHA:90653
Arthrogryposis, Distal, Type 5D
Tongue atrophy, Congenital hip dislocation, Hypermobility of distal interphalangeal joints, Elbow... OMIM:615065
Dural Sinus Malformation
Cerebral edema, Myelopathy, Hypoplasia of the frontal lobes ORPHA:97339
Oculoauriculofrontonasal Syndrome
Bifid nasal tip, Cleft lip, Underdeveloped nasal alae, Narrow mouth, Encephalocele, Pericallosal ... ORPHA:398156
X-Linked Hypophosphatemia
Renal phosphate wasting, Limitation of joint mobility, Genu valgum, Bowing of the long bones, Too... ORPHA:89936
Smith-Magenis Syndrome
Toe syndactyly, Aplasia/Hypoplasia of the corpus callosum, Abnormality of the ureter, Open mouth,... ORPHA:819
Occipital Horn Syndrome
Genu valgum, High palate, Pectus carinatum, Broad clavicles, Ureteral obstruction, Limited elbow ... OMIM:304150
Spondylometaphyseal Dysplasia With Cone-Rod Dystrophy
Postnatal growth retardation, Hypoplastic inferior ilia, Short metacarpal, Ovoid vertebral bodies... OMIM:608940
Microcephaly-Cardiac Defect-Lung Malsegmentation Syndrome
High, narrow palate, Short distal phalanx of finger, Underdeveloped nasal alae, Abnormal lung lob... ORPHA:2516
49,Xxxxy Syndrome
Carious teeth, Elbow dislocation, Open bite, Cryptorchidism, Hypoplasia of the corpus callosum, R... ORPHA:96264
Generalized Arterial Calcification Of Infancy
Osteomalacia, Cerebral calcification, Pancreatic calcification, Abnormality of the knee, Fused ce... ORPHA:51608
Oculofaciocardiodental Syndrome
Tooth malposition, Genu valgum, Radioulnar synostosis, Submucous cleft hard palate, Oligodontia, ... ORPHA:2712
Intermediate Osteopetrosis
Abnormality of the dentition, Erlenmeyer flask deformity of the femurs, Dental malocclusion, Sand... ORPHA:210110
Craniofacial Microsomia 1
Block vertebrae, Multicystic kidney dysplasia, Occipital encephalocele, Pulmonary hypoplasia, Cle... OMIM:164210
Tetrasomy 5P
Wide nasal bridge, Recurrent respiratory infections, Long philtrum, Postnatal growth retardation,... ORPHA:3309
Carbamoyl Phosphate Synthetase I Deficiency, Hyperammonemia Due To
Cerebral edema OMIM:237300
Cerebrocostomandibular Syndrome
Posterior rib gap, Hydranencephaly, Multicystic kidney dysplasia, Tracheomalacia, Myelomeningocel... ORPHA:1393
Hepatoportal Sclerosis
Nodular regenerative hyperplasia of liver, Gastrointestinal hemorrhage, Periportal fibrosis, Elev... ORPHA:64743
Robinow Syndrome, Autosomal Dominant 2
Broad thumb, Clinodactyly, Cleft soft palate, Cryptorchidism, Short nose, Oligodontia, Thin upper... OMIM:616331
Schimke Immuno-Osseous Dysplasia
Nephropathy, Minimal change glomerulonephritis, Shallow acetabular fossae, Lymphopenia, Abnormal ... ORPHA:1830
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Hypermethylation
Thoracic hypoplasia, Umbilical hernia, Postnatal growth retardation, Large placenta, Polyhydramni... ORPHA:254534
Mirage Syndrome
Hypospadias, Gastroesophageal reflux, Rocker bottom foot, Microphallus, Aspiration pneumonia, Rad... OMIM:617053
Multiple Epiphyseal Dysplasia Type 4
Hypoplastic cervical vertebrae, Limitation of joint mobility, Radial bowing, Premature osteoarthr... ORPHA:93307
Craniofrontonasal Syndrome
Toe syndactyly, Cryptorchidism, Hypoplasia of the corpus callosum, Agenesis of corpus callosum, S... OMIM:304110
Cousin Syndrome
Hypoplastic scapulae, Joint contracture of the hand, Hypoplastic iliac wing, Dislocation of the f... OMIM:260660
Renal Agenesis, Bilateral
Depressed nasal ridge, Fetal polyuria, Oligohydramnios, Sirenomelia, Abnormal intestine morpholog... ORPHA:1848
Spondylometaphyseal Dysplasia, Sedaghatian Type
Delayed epiphyseal ossification, Widened greater sciatic notch, Short neck, Horizontal inferior b... OMIM:250220
Craniometadiaphyseal Dysplasia, Wormian Bone Type
Osteopenia, Broad femoral neck, Overtubulated long bones, Abnormal diaphysis morphology, Short tu... ORPHA:85184
Acrofacial Dysostosis, Cincinnati Type
Median pseudocleft lip, Cryptorchidism, High palate, Dysphagia, Short nose, Choanal atresia, Pulm... OMIM:616462
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins
Congenital shortened small intestine, Neonatal death, Pulmonary lymphangiectasia, Anal atresia, H... OMIM:265380
Craniometadiaphyseal Osteosclerosis With Hip Dysplasia
Depressed nasal bridge, Coarse metaphyseal trabecularization, Sandwich appearance of vertebral bo... OMIM:620558
Portal Hypertension, Noncirrhotic, 2
Epistaxis, Nodular regenerative hyperplasia of liver, Elevated circulating hepatic transaminase c... OMIM:619463
Congenital Myopathy 17
Renal hypoplasia, Narrow chest, Dental malocclusion, Clinodactyly, Long philtrum, Overlapping toe... OMIM:618975
Osteogenesis Imperfecta, Type Vii
Delayed cranial suture closure, Breech presentation, Multiple prenatal fractures, Protrusio aceta... OMIM:610682
Spondylometaphyseal Dysplasia, Sedaghatian Type
Platyspondyly, Narrow chest, Disproportionate short stature, Cone-shaped epiphysis, Abnormal scap... ORPHA:93317
Neu-Laxova Syndrome
Osteomalacia, Cerebral calcification, Everted lower lip vermilion, Depressed nasal ridge, Osteope... ORPHA:2671
Skeletal Defects, Genital Hypoplasia, And Impaired Intellectual Development
Aplasia/Hypoplasia of the radius, Absent thumb, Short tibia, Delayed skeletal maturation, Narrow ... OMIM:612447
Acrocephalopolydactylous Dysplasia
Hepatic fibrosis, Polysplenia, Ascites, Hypoplastic colon, Postaxial hand polydactyly, Short neck... OMIM:200995
Cleidocranial Dysplasia 1
Hypoplastic scapulae, Hypoplastic iliac wing, Delayed pubic bone ossification, Delayed eruption o... OMIM:119600
Migraine, Familial Hemiplegic, 2
Cerebral edema OMIM:602481
Trichohepatoenteric Syndrome 1
Cholestasis, Large placenta, Narrow mouth, Cirrhosis, Hepatomegaly, Jaundice, Hypospadias, Wide n... OMIM:222470
Cranioectodermal Dysplasia 2
Clinodactyly, Cholestasis, Short neck, Everted lower lip vermilion, Hepatomegaly, High palate, Bi... OMIM:613610
Mitochondrial Complex I Deficiency, Nuclear Type 35
Intrauterine growth retardation, Neonatal death, Nonimmune hydrops fetalis, Lacticaciduria, Eleva... OMIM:619003
Osteopathia Striata-Cranial Sclerosis Syndrome
Severe short stature, Wide nasal bridge, High, narrow palate, Bifid uvula, Asymmetry of the thora... ORPHA:2780
Homocystinuria Due To Cystathionine Beta-Synthase Deficiency
Pectus carinatum, Gastrointestinal hemorrhage, Elevated circulating hepatic transaminase concentr... ORPHA:394
Gm1 Gangliosidosis
Aspiration pneumonia, Hepatosplenomegaly, Narrow mouth, Dysphagia, Depressed nasal ridge, Broad n... ORPHA:354
Coffin-Siris Syndrome 11
Depressed nasal bridge, Bifid uvula, Small hand, Downturned corners of mouth, Bulbous nose, Cleft... OMIM:618779
Hypomandibular Faciocranial Dysostosis
Bifid uvula, Aplasia/Hypoplasia of the tongue, Anteverted nares, Narrow mouth, Choanal stenosis, ... ORPHA:1790
Acromesomelic Dysplasia 1
Radial bowing, Long hallux, Beaking of vertebral bodies, Broad phalanx, Cone-shaped epiphyses of ... OMIM:602875
Spondyloepimetaphyseal Dysplasia, Missouri Type
Pear-shaped vertebrae, Disproportionate short stature, Flared metaphysis, Small epiphyses, Femora... ORPHA:93356
Deafness-Epiphyseal Dysplasia-Short Stature Syndrome
Abnormal femoral epiphysis morphology, Abnormal form of the vertebral bodies, Umbilical hernia, S... ORPHA:3218
Schimke Immunoosseous Dysplasia
Shallow acetabular fossae, Lymphopenia, Pancytopenia, Short neck, Disproportionate short-trunk sh... OMIM:242900
Distal Duplication 17Q
Overlapping toe, Genu valgum, Cryptorchidism, Arachnodactyly, High palate, Pectus carinatum, Thin... ORPHA:3379
Ellis-Van Creveld Syndrome
Postaxial foot polydactyly, Natal tooth, Hypoplastic iliac wing, Genu valgum, Cryptorchidism, Con... OMIM:225500
3P25.3 Microdeletion Syndrome
Broad thumb, Overlapping toe, Cerebral white matter atrophy, 2-3 finger syndactyly, High, narrow ... ORPHA:435638
Osteogenesis Imperfecta, Type Viii
Thin ribs, Radial bowing, Barrel-shaped chest, Decreased skull ossification, Multiple prenatal fr... OMIM:610915
Campomelic Dysplasia
Bowing of the long bones, Short neck, Hypoplastic inferior ilia, Hip dislocation, Small abnormall... ORPHA:140
Systemic Sclerosis
Chronic kidney disease, Intestinal bleeding, Finger swelling, Narrow mouth, Glomerulonephritis, A... ORPHA:90291
Mucolipidosis Iii Alpha/Beta
Shallow acetabular fossae, Limitation of joint mobility, Broad ribs, Irregular carpal bones, Spon... OMIM:252600
Microphthalmia With Limb Anomalies
Flared nostrils, Toe syndactyly, Postaxial foot polydactyly, Postnatal growth retardation, High p... OMIM:206920
Acro-Renal-Ocular Syndrome
Toe syndactyly, Short distal phalanx of the thumb, Finger syndactyly, Radial club hand, Postnatal... ORPHA:959
Miller-Dieker Lissencephaly Syndrome
Joint contracture of the hand, Midline brain calcifications, Thick upper lip vermilion, Cryptorch... OMIM:247200
Spondylometaphyseal Dysplasia, Algerian Type
Severe short stature, Platyspondyly, Hypoplasia of proximal radius, Short tubular bones of the ha... OMIM:184253
Genitopatellar Syndrome
Multicystic kidney dysplasia, Cryptorchidism, Hip contracture, Agenesis of corpus callosum, Patel... ORPHA:85201
Tarp Syndrome
Clinodactyly, Neonatal death, High palate, Premature rupture of membranes, Cleft palate, Wide nas... OMIM:311900
Shprintzen-Goldberg Craniosynostosis Syndrome
Thin ribs, Joint contracture of the hand, Genu valgum, Cryptorchidism, Arachnodactyly, Dislocated... OMIM:182212
Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency
Hepatic failure, Elevated circulating hepatic transaminase concentration, Decreased liver functio... ORPHA:367
Monosomy 9Q22.3
Abnormality of the vertebral column, Delayed eruption of teeth, Umbilical hernia, Long philtrum, ... ORPHA:77301
Opitz Gbbb Syndrome
Natal tooth, Ankyloglossia, Cryptorchidism, Hypoplasia of the corpus callosum, Agenesis of corpus... ORPHA:2745
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation
Lambdoidal craniosynostosis, Exaggerated median tongue furrow, Intestinal pseudo-obstruction, Sup... ORPHA:453504
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion
Lambdoidal craniosynostosis, Exaggerated median tongue furrow, Intestinal pseudo-obstruction, Sup... ORPHA:352665
Adams-Oliver Syndrome 6
Hepatic fibrosis, Renal hypoplasia, Foot oligodactyly, Portal hypertension, Splenomegaly, Brachyd... OMIM:616589
Kapur-Toriello Syndrome
Joint contracture of the hand, Short thumb, Cleft upper lip, Polymicrogyria, Intestinal malrotati... OMIM:244300
Craniolenticulosutural Dysplasia
Carious teeth, Cryptorchidism, High palate, Osteopenia, Gastroesophageal reflux, Thin upper lip v... OMIM:607812
Spondyloenchondrodysplasia With Immune Dysregulation
Rheumatoid arthritis, Lymphopenia, Cerebral calcification, Increased intervertebral space, Barrel... OMIM:607944
Intellectual Developmental Disorder, X-Linked, Syndromic, Snyder-Robinson Type
Long hallux, Cryptorchidism, Short neck, Hyperextensibility of the finger joints, High, narrow pa... OMIM:309583
Congenital Syphilis
Extramedullary hematopoiesis, Hepatosplenomegaly, Large placenta, Synovitis, Osteochondrosis, Nep... ORPHA:499009
Hypophosphatemic Rickets, X-Linked Dominant
Renal phosphate wasting, Osteomalacia, Hepatosplenomegaly, Genu valgum, Fibular bowing, Enamel hy... OMIM:307800
Alg9-Cdg
Delayed cranial suture closure, Short neck, Broad ischia, Abnormal bone ossification, Hepatomegal... ORPHA:79328
Adams-Oliver Syndrome
Short distal phalanx of finger, Gastrointestinal hemorrhage, Finger syndactyly, Ascites, Leukopen... ORPHA:974
Hallermann-Streiff Syndrome
Thin ribs, Natal tooth, Narrow mouth, Cryptorchidism, Everted lower lip vermilion, High palate, H... OMIM:234100
Musculocontractural Ehlers-Danlos Syndrome
Atlantoaxial dislocation, Abnormal mesentery morphology, Recurrent joint dislocation, Narrow mout... ORPHA:2953
Coenzyme Q10 Deficiency, Primary, 8
Postnatal growth retardation, Intrauterine growth retardation, Oligohydramnios, Abnormal renal co... OMIM:616733
Fraser Syndrome
Toe syndactyly, Finger syndactyly, Encephalocele, Cryptorchidism, High palate, Anal atresia, Hypo... ORPHA:2052
Basel-Vanagaite-Smirin-Yosef Syndrome
Hypospadias, Pectus carinatum, Gastroesophageal reflux, Recurrent pneumonia, Cerebral atrophy, Fu... OMIM:616449
Pyknoachondrogenesis
Abnormal intramembranous ossification, Depressed nasal ridge, Unossified sacrum, Short iliac bone... ORPHA:3003
Reversible Cerebral Vasoconstriction Syndrome
Leukoencephalopathy, Cerebral edema, Ischemic stroke ORPHA:284388
Fanconi Anemia, Complementation Group L
Wide nasal bridge, Bone marrow hypocellularity, Unilateral renal agenesis, Renal hypoplasia, Abse... OMIM:614083
Townes-Brocks Syndrome 1
Multicystic kidney dysplasia, Broad thumb, Cryptorchidism, Pseudoepiphyses of second metacarpal, ... OMIM:107480
Diamond-Blackfan Anemia 1
Persistence of hemoglobin F, Delayed cranial suture closure, Short neck, Neutropenia, High palate... OMIM:105650
Cholesteryl Ester Storage Disease
Hepatic bridging fibrosis, Acute hepatic failure, Hepatosplenomegaly, Hypersplenism, Hepatic stea... OMIM:278000
Dyssegmental Dysplasia, Rolland-Desbuquois Type
Severe short stature, Neonatal short-limb short stature, Narrow chest, Joint contracture of the h... OMIM:224400
Mosaic Variegated Aneuploidy Syndrome 1
Multicystic kidney dysplasia, Postnatal growth retardation, Cryptorchidism, Agenesis of corpus ca... OMIM:257300
Saul-Wilson Syndrome
Hypoplasia of the odontoid process, Postnatal growth retardation, Neutropenia, Cone-shaped epiphy... OMIM:618150
Distal Deletion 10Q
Clinodactyly, Postnatal growth retardation, High palate, Anal atresia, Hip dislocation, Short nos... ORPHA:96148
Fraser Syndrome 1
Aplasia/Hypoplasia of the sternum, Cutaneous finger syndactyly, Encephalocele, Cryptorchidism, Ap... OMIM:219000
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia
Shallow acetabular fossae, Toe syndactyly, Broad thumb, Hypoplastic iliac wing, Cryptorchidism, S... OMIM:609945
Familial Or Sporadic Hemiplegic Migraine
Cerebral edema ORPHA:569
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate
Wide nasal bridge, Conical tooth, Cleft lip, Bilateral choanal atresia, Selective tooth agenesis,... OMIM:106260
Mycetoma
Abnormal form of the vertebral bodies, Painless fractures due to injury, Abnormal forearm bone mo... ORPHA:2583
Autosomal Recessive Polycystic Kidney Disease
Cholestasis, Hepatosplenomegaly, Hypersplenism, Congenital hepatic fibrosis, Hepatoblastoma, Jaun... ORPHA:731
Marden-Walker Syndrome
Multicystic kidney dysplasia, Arthrogryposis multiplex congenita, Narrow mouth, Agenesis of corpu... ORPHA:2461
Dyskeratosis Congenita, Autosomal Dominant 3
Aplastic anemia, Pancytopenia, Cerebral calcification, Cryptorchidism, Urethral stricture, Neutro... OMIM:613990
Van Esch-O'Driscoll Syndrome
Depressed nasal bridge, Bifid uvula, Downturned corners of mouth, Cerebral atrophy, Sacral dimple... OMIM:301030
Waardenburg Syndrome, Type 1
Wide nasal bridge, Supernumerary vertebrae, Underdeveloped nasal alae, Myelomeningocele, Supernum... OMIM:193500
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome
Ivory epiphyses, Bowing of the long bones, Short metacarpal, Ovoid vertebral bodies, Hypoplastic ... ORPHA:85167
Basel-Vanagaite-Smirin-Yosef Syndrome
Finger syndactyly, Male urethral meatus stenosis, Clinodactyly, Overlapping toe, Overlapping fing... ORPHA:464738
Cholesteryl Ester Storage Disease
Hepatic failure, Splenomegaly, Cirrhosis, Hepatomegaly, Jaundice, Esophageal varix ORPHA:75234
Distal Deletion 6P
Depressed nasal bridge, Abnormality of the dentition, Abnormal epiphysis morphology, Downturned c... ORPHA:96125
Citrullinemia, Classic
Oroticaciduria, Cerebral edema, Cirrhosis, Hepatomegaly OMIM:215700
Cardiospondylocarpofacial Syndrome
Severe short stature, High, narrow palate, Tooth malposition, Synostosis of carpal bones, Abnorma... ORPHA:3238
Camptodactyly Syndrome, Guadalajara Type 3
Wide nasal base, Osteopenia, Small hand, Broad nasal tip, Broad femoral neck, Broad columella, De... ORPHA:488434
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 2
Platyspondyly, Osteopenia, Epiphyseal dysplasia, Hypoplastic ilia, Flared metaphysis, Carpal syno... OMIM:615349
Ogden Syndrome
Flared nostrils, Everted upper lip vermilion, Delayed cranial suture closure, Thick upper lip ver... OMIM:300855
Argininosuccinic Aciduria
Aminoaciduria, Hepatic fibrosis, Oroticaciduria, Elevated circulating aspartate aminotransferase ... OMIM:207900
Homocystinuria Due To Cystathionine Beta-Synthase Deficiency
Generalized osteoporosis, Homocystinuria, Pectus carinatum, Limitation of joint mobility, Dental ... OMIM:236200
Hajdu-Cheney Syndrome
Periodontitis, Open bite, Narrow mouth, Decreased skull ossification, Bowing of the long bones, S... ORPHA:955
High-Grade Dysplasia In Patients With Barrett Esophagus
Barrett esophagus, Gastroesophageal reflux, Dysphagia, Esophageal obstruction ORPHA:231080
Isolated Posterior Meningocele
Hydromyelia, Enuresis, Thoracic hemivertebrae, Lipomyelomeningocele, Meningocele, Occipital menin... ORPHA:268810
Tetrasomy 9P
Hypoplastic scapulae, Small hand, Absent gallbladder, Cryptorchidism, Short neck, Jaundice, High ... ORPHA:3310
Craniolenticulosutural Dysplasia
Narrow chest, Posterior wedging of vertebral bodies, High iliac wing, Carious teeth, Delayed erup... ORPHA:50814
Nail-Patella Syndrome
Patellar aplasia, Hematuria, Disproportionate prominence of the femoral medial condyle, Glomerulo... OMIM:161200
3Mc Syndrome 2
Wide nasal bridge, Abnormal vertebral morphology, Caudal appendage, Abnormality of the vertebral ... OMIM:265050
Oculodentodigital Dysplasia
Toe syndactyly, Carious teeth, Finger syndactyly, Clinodactyly, Cerebral calcification, Short hal... ORPHA:2710
Jung Syndrome
Wide nasal bridge, Depressed nasal bridge, Abnormal form of the vertebral bodies, Aplasia/Hypopla... ORPHA:2321
Teebi-Shaltout Syndrome
Caudal appendage, Narrow mouth, Syndactyly, High, narrow palate, Pectus carinatum, Broad nasal ti... OMIM:272950
Dextrocardia
Congenital hip dislocation, Meckel diverticulum, Pancreatic hypoplasia, Abnormality of abdominal ... ORPHA:1666
Spinal Muscular Atrophy With Congenital Bone Fractures 2
Abnormal cortical gyration, Pulmonary hypoplasia, Arthrogryposis multiplex congenita, Decreased f... OMIM:616867
Epidermolysis Bullosa Dystrophica, Autosomal Recessive
Narrow mouth, Oral mucosal blisters, Abnormal esophagus morphology, Spontaneous esophageal perfor... OMIM:226600
48,Xxxy Syndrome
Carious teeth, Elbow dislocation, Open bite, Cryptorchidism, Radioulnar synostosis, Short neck, H... ORPHA:96263
Proximal 16P11.2 Microdeletion Syndrome
Abnormal vertebral morphology, Multicystic kidney dysplasia, Gastroesophageal reflux, Rib fusion,... ORPHA:261197
Microcephaly, Short Stature, And Polymicrogyria With Or Without Seizures
Thin ribs, Polymicrogyria, Narrow mouth, Agenesis of corpus callosum, Dysplastic corpus callosum,... OMIM:614833
Methylmalonic Aciduria And Homocystinuria, Cblj Type
Homocystinuria, Gastroesophageal reflux, Methylmalonic aciduria, Cerebral atrophy, Fetal distress... OMIM:614857
Shprintzen-Goldberg Syndrome
Elbow dislocation, Genu valgum, Cryptorchidism, Arachnodactyly, Bowing of the long bones, High, n... ORPHA:2462
Distal Deletion 12Q
Overlapping toe, Short neck, Ectopic kidney, Polycystic kidney dysplasia, Duodenal atresia, High,... ORPHA:96149
Lissencephaly Type 3-Metacarpal Bone Dysplasia Syndrome
Facial edema, Short distal phalanx of finger, Cerebral hypoplasia, Pachygyria, Small basal gangli... ORPHA:86822
Coffin-Lowry Syndrome
Thick nasal septum, Open mouth, Everted lower lip vermilion, High palate, Rectal prolapse, Short ... OMIM:303600
Duane Retraction Syndrome
Wide nasal bridge, Abnormal form of the vertebral bodies, Preaxial hand polydactyly, Anteverted n... ORPHA:233
Peroxisome Biogenesis Disorder 1A (Zellweger)
Aplasia/Hypoplasia of the corpus callosum, Bell-shaped thorax, Cryptorchidism, Protruding tongue,... OMIM:214100
Kinsship Syndrome
Ankyloglossia, Short neck, Dislocated radial head, Hip dislocation, Osteopenia, Gastroesophageal ... OMIM:619297
Infantile Liver Failure Syndrome 3
Platyspondyly, Hepatic bridging fibrosis, Elevated circulating hepatic transaminase concentration... OMIM:618641
Holoprosencephaly-Radial Heart Renal Anomalies Syndrome
Absent gallbladder, Foot polydactyly, Vertebral segmentation defect, Missing ribs, Microcephaly, ... ORPHA:3186
Short-Rib Thoracic Dysplasia 15 With Polydactyly
Depressed nasal bridge, Narrow chest, Cone-shaped epiphysis, Horseshoe kidney, Polyhydramnios, Sp... OMIM:617088
Wolman Disease
Hepatic failure, Ascites, Splenomegaly, Hepatomegaly, Anemia, Bone-marrow foam cells, Growth dela... ORPHA:75233
Sclerosteosis 1
Wide nasal bridge, Depressed nasal bridge, Broad clavicles, Abnormal pelvic girdle bone morpholog... OMIM:269500
Mannosidosis, Alpha B, Lysosomal
Thoracolumbar kyphosis, Depressed nasal ridge, Cerebral cortical atrophy, Macroglossia, Abnormal ... OMIM:248500
Marshall Syndrome
Radial bowing, Thick upper lip vermilion, Knee osteoarthritis, Small proximal tibial epiphyses, S... OMIM:154780
Growth Retardation, Developmental Delay, And Facial Dysmorphism
Bifid uvula, Umbilical hernia, Secondary microcephaly, Intrauterine growth retardation, Anteverte... OMIM:612938
Microcephalic Osteodysplastic Primordial Dwarfism Types I And Iii
Osteomalacia, Cryptorchidism, Short neck, Abnormal metacarpal morphology, Short palm, Aplasia/hyp... ORPHA:2636
Premature Aging Syndrome, Penttinen Type
Thin ribs, Delayed cranial suture closure, Aplasia of the nasal bone, Flexion contracture of fing... OMIM:601812
Orofaciodigital Syndrome Iii
Bifid uvula, Postaxial foot polydactyly, Tongue nodules, Bulbous nose, Microdontia, Short sternum... OMIM:258850
Acropectorovertebral Dysplasia
High, narrow palate, Short distal phalanx of finger, Broad thumb, Synostosis of carpal bones, Fin... ORPHA:957
Neu-Laxova Syndrome 2
Depressed nasal ridge, Toe syndactyly, Edema, Finger syndactyly, Intrauterine growth retardation,... OMIM:616038
Microphthalmia With Limb Anomalies
Synostosis of joints, Toe syndactyly, Synostosis of carpal bones, Elbow dislocation, Postaxial fo... ORPHA:1106
Gracile Bone Dysplasia
Thin ribs, Slender long bone, Flared metaphysis, Ascites, Ankyloglossia, Decreased skull ossifica... OMIM:602361
Lateral Meningocele Syndrome
High, narrow palate, Dental crowding, Abnormal form of the vertebral bodies, Umbilical hernia, Cr... ORPHA:2789
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 8
Nodular regenerative hyperplasia of liver, Usual interstitial pneumonia, Hepatic failure, Increas... OMIM:620367
Eiken Syndrome
Delayed epiphyseal ossification, Clinodactyly, Long hallux, Long thumb, Multiple unerupted teeth,... OMIM:600002
Cornelia De Lange Syndrome 6
Pectus carinatum, Macrodontia of permanent maxillary central incisor, Gastroesophageal reflux, Sh... OMIM:620568
Smith-Lemli-Opitz Syndrome
Postaxial foot polydactyly, Overlapping toe, Cryptorchidism, Hypoplasia of the corpus callosum, H... OMIM:270400
Meckel Syndrome, Type 10
Malformation of the hepatic ductal plate, Bifid uvula, Postaxial foot polydactyly, Occipital ence... OMIM:614175
Distal Deletion 13Q
Abnormal form of the vertebral bodies, Aplasia/Hypoplasia of the corpus callosum, Encephalocele, ... ORPHA:1590
Ifap Syndrome 1, With Or Without Bresheck Syndrome
Multicystic kidney dysplasia, Cryptorchidism, Hypoplasia of the corpus callosum, Neonatal death, ... OMIM:308205
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects
Enlarged metaphyses, Genu valgum, Narrow mouth, Radioulnar synostosis, Short neck, Broad distal p... OMIM:245600
Oculocerebrocutaneous Syndrome
Tessier cleft, Congenital hip dislocation, Short distal phalanx of finger, Finger syndactyly, Pol... ORPHA:1647
Intellectual Developmental Disorder, X-Linked, Syndromic, With Pigmentary Mosaicism And Coarse Facies
Hepatosplenomegaly, Genu valgum, Open mouth, Everted lower lip vermilion, Hepatomegaly, Bifid nos... OMIM:301066
Cleft Palate-Congenital Heart Defect-Intellectual Disability Syndrome Due To 15Q14 Microdeletion
Abnormality of the dentition, Long philtrum, Prominent nasal bridge, Microcephaly, Smooth philtru... ORPHA:261190
Dyskeratosis Congenita, Autosomal Dominant 2
Bone marrow hypocellularity, Abnormality of the dentition, Hepatic fibrosis, Aplastic anemia, Ora... OMIM:613989
Familial Visceral Myopathy
Hyperparathyroidism, Narrow chest, Hydroureter, Megacystis, Umbilical hernia, Camptodactyly of fi... ORPHA:2604
Catel-Manzke Syndrome
Narrow naris, Postnatal growth retardation, Ulnar deviation of the 2nd finger, Genu valgum, Narro... OMIM:616145
Pseudo-Torch Syndrome 2
Thin ribs, Elevated circulating hepatic transaminase concentration, Fetal distress, Ascites, Poly... OMIM:617397
Ear-Patella-Short Stature Syndrome
Elbow dislocation, Narrow mouth, Cryptorchidism, Patellar aplasia, Hypospadias, Epispadias, High,... ORPHA:2554
Portal Hypertension, Noncirrhotic, 1
Elevated circulating hepatic transaminase concentration, Portal hypertension, Splenomegaly, Hepat... OMIM:617068
Dystonia-Deafness Syndrome 1
Hypoplastic scapulae, Cleft upper lip, Pseudobulbar paralysis, Kyphoscoliosis, Femoral retroversi... OMIM:607371
Diaphragmatic Defects, Limb Deficiencies, And Ossification Defects Of Skull
Toe syndactyly, Intestinal malrotation, Anteverted nares, Decreased skull ossification, Syndactyl... OMIM:601163
Nestor-Guillermo Progeria Syndrome
Thin ribs, Limited elbow movement, Thin vermilion border, Flexion contracture, Osteolysis, Dental... OMIM:614008
Carey-Fineman-Ziter Syndrome
Ulnar deviation of finger, Growth delay, Aplasia/Hypoplasia of the tongue, Long philtrum, Glandul... ORPHA:1358
Contractures-Developmental Delay-Pierre Robin Syndrome
High, narrow palate, Peripheral pulmonary artery stenosis, Short thumb, Underdeveloped nasal alae... ORPHA:436003
Budd-Chiari Syndrome
Gastrointestinal hemorrhage, Elevated circulating hepatic transaminase concentration, Ascites, Ga... ORPHA:131
Phocomelia, Schinzel Type
Radial bowing, Abnormal tibia morphology, Fibular aplasia, Cryptorchidism, Humeroradial synostosi... ORPHA:2879
Hypophosphatemic Rickets With Hypercalciuria, Hereditary
Renal phosphate wasting, Delayed epiphyseal ossification, Fibular bowing, Rickets, Bulging of the... OMIM:241530
Nivelon-Nivelon-Mabille Syndrome
Severe short stature, Narrow chest, Distal clavicular thinning, Bell-shaped thorax, Trapezoidal v... OMIM:600092
Renal-Hepatic-Pancreatic Dysplasia 1
Cholestasis, Neonatal death, Cirrhosis, Hepatomegaly, Polycystic kidney dysplasia, Bile duct prol... OMIM:208540
Geleophysic Dysplasia 1
Joint contracture of the hand, Short palm, Irregular capital femoral epiphysis, Short metacarpals... OMIM:231050
Corpus Callosum, Agenesis Of, With Facial Anomalies And Robin Sequence
Depressed nasal bridge, Narrow chest, Tracheomalacia, Anteriorly placed anus, Clinodactyly, Proxi... OMIM:217980
Oculocerebrorenal Syndrome Of Lowe
Carious teeth, Periodontitis, Osteomalacia, Open bite, Genu valgum, Open mouth, Cryptorchidism, H... ORPHA:534
Renal-Hepatic-Pancreatic Dysplasia 2
Malformation of the hepatic ductal plate, Hepatic fibrosis, Abnormal lung lobation, Cholestasis, ... OMIM:615415
Branchioskeletogenital Syndrome
Carious teeth, Short neck, Thoracolumbar kyphoscoliosis, Broad nasal tip, Downturned corners of m... ORPHA:1299
Alkaptonuria
Elevated urinary homogentisic acid, Limited hip movement, Decreased glomerular filtration rate, D... OMIM:203500
Vitamin D Hydroxylation-Deficient Rickets, Type 1A
Delayed epiphyseal ossification, Fibular bowing, Secondary hyperparathyroidism, Generalized amino... OMIM:264700
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies
Internally rotated shoulders, Cholestasis, Hepatosplenomegaly, Cleft soft palate, Clinodactyly of... OMIM:619503
Ornithine Transcarbamylase Deficiency, Hyperammonemia Due To
Oroticaciduria, Cerebral edema, Elevated circulating aspartate aminotransferase concentration, El... OMIM:311250
Distal Limb Deficiencies-Micrognathia Syndrome
Renal hypoplasia, Microglossia, Abnormality of the ankle, Aplasia/Hypoplasia of the radius, Oligo... ORPHA:1307
Geroderma Osteodysplasticum
Severe short stature, Platyspondyly, Osteopenia, Abnormality of the dentition, Periodontitis, Hyp... OMIM:231070
Spondyloepiphyseal Dysplasia With Congenital Joint Dislocations
Elbow dislocation, Genu valgum, Barrel-shaped chest, Intervertebral space narrowing, Narrow verte... OMIM:143095
Diaphragmatic Hernia 4, With Cardiovascular Defects
Pulmonary artery hypoplasia, Finger syndactyly, Bulbous nose, 11 pairs of ribs, Cryptorchidism, 2... OMIM:620025
Proton-Pump Inhibitor-Responsive Esophageal Eosinophilia
Allergic rhinitis, Gastroesophageal reflux, Eosinophilic microabscess formation in the esophagus,... ORPHA:411696
Alpha-Mannosidosis, Infantile Form
Hepatosplenomegaly, Pancytopenia, Genu valgum, Short neck, Bilateral coxa valga, Hypoplastic infe... ORPHA:309282
Orofaciodigital Syndrome V
Postaxial foot polydactyly, Ankyloglossia, Agenesis of corpus callosum, High palate, Hamartoma of... OMIM:174300
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency
Hepatic fibrosis, Portal fibrosis, Growth delay, Elevated circulating hepatic transaminase concen... ORPHA:264580
Weill-Marchesani Syndrome 1
Depressed nasal bridge, Tooth malposition, Broad phalanges of the hand, Spinal canal stenosis, Br... OMIM:277600
Gastrointestinal Defects And Immunodeficiency Syndrome 2
Inflammation of the large intestine, Bronchiectasis, Rectovaginal fistula, Interstitial emphysema... OMIM:619708
Mucopolysaccharidosis Type 3
Aspiration pneumonia, Urinary glycosaminoglycan excretion, Genu valgum, Hepatomegaly, Dysphagia, ... ORPHA:581
Distal Deletion 9P
Wide nasal bridge, High, narrow palate, Abnormality of the dentition, Short neck, Cleft palate, B... ORPHA:1642
Immunodeficiency 23
Allergic rhinitis, Recurrent respiratory infections, Lymphopenia, Joint hypermobility, Eosinophil... OMIM:615816
Baller-Gerold Syndrome
Abnormality of the ureter, Narrow mouth, Aplasia/Hypoplasia of the patella, Bowing of the long bo... ORPHA:1225
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome
Thoracolumbar kyphosis, Hepatic fibrosis, Cholelithiasis, Abnormal pulmonary interstitial morphol... ORPHA:2072
Recombinant 8 Syndrome
Depressed nasal bridge, Abnormality of the dentition, Downturned corners of mouth, Abnormal stern... ORPHA:96167
Sponastrime Dysplasia
Delayed epiphyseal ossification, Shallow acetabular fossae, Genu valgum, Aplasia of the nasal bon... ORPHA:93357
Senior-Boichis Syndrome
Chronic kidney disease, Malformation of the hepatic ductal plate, Renal hypoplasia, Hepatic fibro... ORPHA:84081
Fibrous Dysplasia Of Bone
Osteomalacia, Abnormal tibia morphology, Ovarian cyst, Bowing of the long bones, Elevated circula... ORPHA:249
Caroli Disease
Intrahepatic cholestasis, Cholelithiasis, Hepatic fibrosis, Biliary cirrhosis, Ascites, Cholestas... ORPHA:53035
Teebi Hypertelorism Syndrome 1
Wide nasal bridge, Depressed nasal bridge, Coronal craniosynostosis, Small hand, Natal tooth, Den... OMIM:145420
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 4B
Pulmonary hypoplasia, 3-Methylglutaconic aciduria, Neonatal death OMIM:615228
Osteogenesis Imperfecta, Type Xi
Osteopenia, Dentinogenesis imperfecta, Vertebral wedging, Increased susceptibility to fractures, ... OMIM:610968
Melnick-Needles Syndrome
Tooth malposition, Hypoplastic scapulae, Delayed cranial suture closure, Genu valgum, Anterior co... OMIM:309350
Saethre-Chotzen Syndrome
Depressed nasal bridge, Broad thumb, Abnormal form of the vertebral bodies, Finger syndactyly, De... ORPHA:794
Vitamin D Hydroxylation-Deficient Rickets, Type 1B
Delayed epiphyseal ossification, Metaphyseal irregularity, Rickets, Bulging epiphyses, Bulging of... OMIM:600081
Waardenburg Syndrome Type 1
Wide nasal bridge, Underdeveloped nasal alae, Cleft upper lip, Tented upper lip vermilion, Agangl... ORPHA:894
Cortical Dysplasia, Complex, With Other Brain Malformations 9
Reduced cerebral white matter volume, Pachygyria, Secondary microcephaly, Hypoplasia of the corpu... OMIM:618174
Mandibuloacral Dysplasia Progeroid Syndrome
Thin ribs, Delayed cranial suture closure, Decreased fibular diameter, Postnatal growth retardati... OMIM:619127
Brachycephaly, Deafness, Cataract, Microstomia, And Impaired Intellectual Development
Depressed nasal bridge, Rocker bottom foot, Cerebral atrophy, Finger clinodactyly, Long philtrum,... OMIM:601353
Joubert Syndrome
Abnormal form of the vertebral bodies, Aplasia/Hypoplasia of the corpus callosum, Polymicrogyria,... ORPHA:475
Thoracic Outlet Syndrome
Edema, Abnormal rib morphology ORPHA:97330
Visceral Myopathy 2
Barrett esophagus, Gastroesophageal reflux, Intestinal pseudo-obstruction, Volvulus, Megacystis, ... OMIM:619350
Oculodentodigital Dysplasia
Carious teeth, Clinodactyly, Basal ganglia calcification, Joint contracture of the 5th finger, Hi... OMIM:164200
Dyskeratosis Congenita, Autosomal Dominant 6
Bone marrow hypocellularity, Abnormality of the dentition, Aplastic anemia, Oral leukoplakia, Pan... OMIM:616553
Spondyloepimetaphyseal Dysplasia, X-Linked
Hypoplasia of the odontoid process, Broad long bones, Disproportionate short-trunk short stature,... OMIM:300106
Meckel Syndrome 14
Hepatic fibrosis, Postaxial foot polydactyly, Occipital encephalocele, Anteverted nares, Oligohyd... OMIM:619879
Andersen Cardiodysrhythmic Periodic Paralysis
Small hand, Toe syndactyly, High palate, Short foot, Short metacarpal, Delayed skeletal maturatio... OMIM:170390
Mayer-Rokitansky-Küster-Hauser Syndrome
Ectopic ovary, Unilateral renal agenesis, Abnormal form of the vertebral bodies, Horseshoe kidney... ORPHA:3109
Kindler Epidermolysis Bullosa
Inflammation of the large intestine, Carious teeth, Periodontitis, Finger syndactyly, Esophagitis... ORPHA:2908
Meckel Syndrome, Type 6
Hepatic fibrosis, Postaxial foot polydactyly, Occipital encephalocele, Cleft upper lip, Horseshoe... OMIM:612284
Steinfeld Syndrome
Abnormal vertebral morphology, Bifid uvula, Abnormality of the vertebral column, Absent gallbladd... OMIM:184705
Hajdu-Cheney Syndrome
Genu valgum, Fibular bowing, Cryptorchidism, Narrow mouth, Crowded carpal bones, Short neck, Disl... OMIM:102500
Acute Liver Failure
Gastrointestinal hemorrhage, Acute kidney injury, Elevated circulating hepatic transaminase conce... ORPHA:90062
Robinow Syndrome, Autosomal Dominant 3
Broad thumb, Clinodactyly, Cryptorchidism, Short neck, Short nose, Syndactyly, Cleft lip, Downtur... OMIM:616894
Loeys-Dietz Syndrome 5
Cleft soft palate, Arachnodactyly, Eosinophilic infiltration of the esophagus, Bilateral coxa val... OMIM:615582
X-Linked Alport Syndrome-Diffuse Leiomyomatosis
Nephropathy, Chronic kidney disease, Gastroesophageal reflux, Aspiration pneumonia, Stage 5 chron... ORPHA:1018
Neuronal Intranuclear Inclusion Disease
Spina bifida occulta, Scoliosis, Abnormal form of the vertebral bodies ORPHA:2289
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 1
Abnormal ilium morphology, Open mouth, Anal atresia, High palate, Short nose, Gastroesophageal re... OMIM:614080
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Intermediate Form
Gastroesophageal reflux, Carious teeth, Anal fissure, Esophageal stricture, Ankyloglossia, Narrow... ORPHA:89842
Aspartylglucosaminuria
Abnormal vertebral morphology, Carious teeth, Beaking of vertebral bodies, Anterior beaking of lu... ORPHA:93
Telo2-Related Intellectual Disability-Neurodevelopmental Disorder
Small hand, Clinodactyly, Ankyloglossia, Overlapping toe, Hip contracture, Short foot, Pectus car... ORPHA:488642
Microcephaly-Seizures-Intellectual Disability-Heart Disease Syndrome
Abnormal sternum morphology, Supernumerary nipple, Broad ribs, Cryptorchidism, Hypoplasia of the ... ORPHA:2519
Global Developmental Delay-Alopecia-Macrocephaly-Facial Dysmorphism-Structural Brain Anomalies Syndrome
Tapered toe, Bilateral cryptorchidism, Periventricular cysts, Bulbous nose, Increased nuchal tran... ORPHA:544488
1Q41Q42 Microdeletion Syndrome
Depressed nasal bridge, Broad nasal tip, Underdeveloped nasal alae, Cryptorchidism, Submucous cle... ORPHA:250999
Pulmonary Hypoplasia, Primary
Pulmonary hypoplasia, Neonatal death OMIM:265430
Stickler Syndrome
Open bite, Genu valgum, Arachnodactyly, Short hard palate, Hip dislocation, Short nose, Protrusio... ORPHA:828
Duplication Of The Pituitary Gland
Volvulus, Abnormal odontoid process morphology, Polyhydramnios, Encephalocele, Thoracic scoliosis... ORPHA:314621
Cutis Laxa, Autosomal Recessive, Type Ic
Breech presentation, Periorbital edema, Rectal prolapse, Osteopenia, Multiple bladder diverticula... OMIM:613177
Hypocalcemic Vitamin D-Dependent Rickets
Delayed epiphyseal ossification, Hypochromic anemia, Osteomalacia, Postnatal growth retardation, ... ORPHA:289157
Aymé-Gripp Syndrome
Limitation of joint mobility, Delayed cranial suture closure, Postnatal growth retardation, Narro... ORPHA:1272
Otopalatodigital Syndrome, Type Ii
Toe syndactyly, Broad thumb, Radial bowing, Rudimentary fibula, Postnatal growth retardation, Ove... OMIM:304120
Wilson Disease
Osteomalacia, Acute hepatic failure, Hepatic steatosis, Cirrhosis, Elevated circulating alanine a... OMIM:277900
8P11.2 Deletion Syndrome
Anosmia, Depressed nasal bridge, Growth delay, Splenomegaly, Cryptorchidism, Supernumerary ribs, ... ORPHA:251066
Coffin-Siris Syndrome 4
Everted upper lip vermilion, Agenesis of corpus callosum, Wide nose, Short 5th finger, Delayed sk... OMIM:614609
Bosma Arhinia Microphthalmia Syndrome
Choanal atresia, Anosmia, Cleft lip, Dental malocclusion, Cryptorchidism, Hypoplasia of teeth, Mi... OMIM:603457
Roberts Syndrome
Synostosis of carpal bones, Finger syndactyly, Postnatal growth retardation, Cryptorchidism, Pate... ORPHA:3103
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency
Platyspondyly, Pneumonia, Recurrent pneumonia, Abnormal pelvic girdle bone morphology, Growth arr... OMIM:102700
Primary Pulmonary Hypoplasia
Abnormal pulmonary artery morphology, Ureteral stenosis, Patellar hypoplasia, Intrauterine growth... ORPHA:2257
Frank-Ter Haar Syndrome
Delayed cranial suture closure, Anterior concavity of thoracic vertebrae, Hypoplasia of the corpu... OMIM:249420
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 1
Narrow mouth, Arachnodactyly, Radioulnar synostosis, Bowing of the long bones, Dislocated radial ... OMIM:130070
Osteopetrosis, Autosomal Dominant 2
Bone marrow hypocellularity, Hip osteoarthritis, Mandibular osteomyelitis, Abnormal pelvic girdle... OMIM:166600
Developmental Delay With Or Without Dysmorphic Facies And Autism
Supernumerary nipple, Cryptorchidism, Hypoplasia of the corpus callosum, Short foot, Short nose, ... OMIM:618454
Treacher Collins Syndrome 2
Choanal atresia, Choanal stenosis, Cleft palate, Fusion of middle ear ossicles OMIM:613717
Spondylospinal Thoracic Dysostosis
Pulmonary hypoplasia, Arthrogryposis multiplex congenita, Multiple pterygia, Short thorax OMIM:601809
Genitopatellar Syndrome
Multicystic kidney dysplasia, Cryptorchidism, Hip contracture, Agenesis of corpus callosum, Patel... OMIM:606170
Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 1
Thin ribs, Depressed nasal bridge, Platyspondyly, Progressive congenital scoliosis, Premature rup... OMIM:225400
Chromosome 15Q25 Deletion Syndrome
Polysplenia, Cleft upper lip, Intrauterine growth retardation, Thin vermilion border, Cryptorchid... OMIM:614294
Dyskeratosis Congenita, Autosomal Recessive 5
Bone marrow hypocellularity, Postnatal growth retardation, Leukopenia, Intrauterine growth retard... OMIM:615190
Mucopolysaccharidosis Type 2, Attenuated Form
Abnormal vertebral morphology, Limitation of joint mobility, Hepatosplenomegaly, Diaphyseal under... ORPHA:217093
Weill-Marchesani Syndrome 2
Tooth malposition, Broad phalanges of the hand, High palate, Short metacarpal, Delayed skeletal m... OMIM:608328
Hereditary Acrokeratotic Poikiloderma
Gingival bleeding, Abnormality of the dentition, Xerostomia, Abnormality of the urethra, Oral leu... ORPHA:2907
Ramos-Arroyo Syndrome
Severe short stature, Depressed nasal bridge, Carious teeth, Xerostomia, Smooth tongue, Long phil... ORPHA:1051
Cdags Syndrome
Lambdoidal craniosynostosis, Coronal craniosynostosis, Delayed cranial suture closure, Rectoureth... OMIM:603116
Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum
Broad clavicles, Osteopenia, Abnormal form of the vertebral bodies, Carpal osteolysis, Pterygium,... ORPHA:371428
Craniosynostosis-Anal Anomalies-Porokeratosis Syndrome
Aplastic clavicle, Coronal craniosynostosis, Abnormal clavicle morphology, Delayed skeletal matur... ORPHA:85199
Osteogenesis Imperfecta, Type Vi
Dentinogenesis imperfecta, Bowing of the arm, Increased susceptibility to fractures, Biconcave ve... OMIM:613982
Agnathia-Otocephaly Complex
Pulmonary hypoplasia, Microglossia, Tracheomalacia, Aglossia, Narrow mouth, Agenesis of corpus ca... OMIM:202650
Heterotaxy, Visceral, 1, X-Linked
Congenital hip dislocation, Block vertebrae, Absence of the sacrum, Total anomalous pulmonary ven... OMIM:306955
Immunodeficiency 12
Delayed skeletal maturation, Recurrent aphthous stomatitis, Abnormal lymphocyte count, Osteoporos... OMIM:615468
Cholestasis, Progressive Familial Intrahepatic, 8
Hepatic bridging fibrosis, Hepatic fibrosis, Cholestasis, Elevated circulating aspartate aminotra... OMIM:619662
Orofaciodigital Syndrome Iv
Toe syndactyly, Short tibia, Cerebral atrophy, Clinodactyly, Hamartoma of tongue, Short finger, A... OMIM:258860
Hyperphosphatasia With Impaired Intellectual Development Syndrome 3
Wide nasal bridge, Anal stenosis, Broad nasal tip, Wide mouth, Tented upper lip vermilion, Decrea... OMIM:614207
Camptodactyly, Tall Stature, And Hearing Loss Syndrome
Increased vertebral height, Camptodactyly of toe, Microcephaly, Arachnodactyly, Wide femoral meta... OMIM:610474
Fontaine Progeroid Syndrome
Narrow mouth, Cryptorchidism, Hypoplasia of the corpus callosum, Neonatal death, Protruding tongu... OMIM:612289
Toriello-Carey Syndrome
Abnormal corpus callosum morphology, Narrow chest, Clinodactyly, Cerebral atrophy, Anteriorly pla... ORPHA:3338
Acrofacial Dysostosis 1, Nager Type
Toe syndactyly, Velopharyngeal insufficiency, Clinodactyly, Overlapping toe, Radioulnar synostosi... OMIM:154400
Williams Syndrome
Synostosis of joints, Carious teeth, Open bite, Genu valgum, Cryptorchidism, Polycystic ovaries, ... ORPHA:904
1P36 Deletion Syndrome
Delayed cranial suture closure, Abnormality of the spleen, Narrow mouth, Cryptorchidism, Hepatic ... ORPHA:1606
Autosomal Dominant Centronuclear Myopathy
Thin ribs, Polyhydramnios, Cryptorchidism, Decreased fetal movement, Urinary incontinence, Pylori... ORPHA:169189
Matthew-Wood Syndrome
Renal hypoplasia, Annular pancreas, Duodenal stenosis, Horseshoe kidney, Intrauterine growth reta... ORPHA:2470
Renal Hypodysplasia/Aplasia 4
Anhydramnios, Pulmonary hypoplasia OMIM:619887
Renal Hypodysplasia/Aplasia 2
Anhydramnios, Pulmonary hypoplasia OMIM:615721
Czech Dysplasia
Platyspondyly, Limitation of joint mobility, Short toe, Short femoral neck, Thoracic kyphosis, In... OMIM:609162
Orofaciodigital Syndrome Vi
Toe syndactyly, Clinodactyly, Fibular aplasia, Agenesis of corpus callosum, High palate, Accessor... OMIM:277170
Septo-Optic Dysplasia Spectrum
Anosmia, Cryptorchidism, Absent septum pellucidum, Agenesis of corpus callosum, Tracheoesophageal... ORPHA:3157
Epidermolysis Bullosa, Junctional 5B, With Pyloric Atresia
Axillary pterygium, Congenital pyloric atresia, Oral mucosal blisters, Urethrovesical occlusion, ... OMIM:226730
Hypomandibular Faciocranial Dysostosis
Aglossia, Choanal stenosis, Coronal craniosynostosis, Pursed lips OMIM:241310
Distal Deletion 15Q
Multicystic kidney dysplasia, Small hand, Postnatal growth retardation, Genu valgum, Cryptorchidi... ORPHA:1596
Benign Schwannoma
Nasal polyposis, Abnormality of the liver, Intestinal polyposis, Abnormal esophagus morphology, A... ORPHA:252164
Constricting Bands, Congenital
Abnormal rib cage morphology, Tessier cleft, Cleft upper lip, Abnormal lung lobation, Encephaloce... OMIM:217100
Trisomy 8P
Clinodactyly of the 2nd finger, Overlapping toe, Cryptorchidism, Agenesis of corpus callosum, Sho... ORPHA:264450
Mucopolysaccharidosis Type 2, Severe Form
Abnormal vertebral morphology, Limitation of joint mobility, Hepatosplenomegaly, Diaphyseal under... ORPHA:217085
Caroli Syndrome
Hypersplenism, Congenital hepatic fibrosis, Cirrhosis, Abnormal ductus choledochus morphology, He... ORPHA:480520
Progeroid Short Stature With Pigmented Nevi
Allergic rhinitis, Abnormal joint morphology, Irregular dentition, Thoracic scoliosis, Hypodontia... OMIM:176690
Neutropenia, Severe Congenital, 4, Autosomal Recessive
Broad thumb, Clinodactyly, Lymphopenia, Hepatosplenomegaly, Cryptorchidism, Oral ulcer, Neutropen... OMIM:612541
Serkal Syndrome
Abnormal penis morphology, Malrotation of small bowel, Growth delay, Oligohydramnios, Orofacial c... ORPHA:139466
C Syndrome
Multicystic kidney dysplasia, Toe syndactyly, Limitation of joint mobility, Aplasia/Hypoplasia of... ORPHA:1308
Craniotubular Dysplasia, Ikegawa Type
Platyspondyly, Wide nasal bridge, Broad femoral neck, Long philtrum, Thick lower lip vermilion, T... OMIM:619727
Juvenile Sialidosis Type 2
Abnormal form of the vertebral bodies, Umbilical hernia, Hepatosplenomegaly, Gingival overgrowth,... ORPHA:93399
Dyskeratosis Congenita, Autosomal Recessive 1
Bone marrow hypocellularity, Hepatic fibrosis, Carious teeth, Aplastic anemia, Oral leukoplakia, ... OMIM:224230
Acrocallosal Syndrome
Toe syndactyly, Postaxial foot polydactyly, Finger syndactyly, Everted upper lip vermilion, Aplas... OMIM:200990
Rhombencephalosynapsis
Finger syndactyly, Anteverted nares, Narrow mouth, Polydactyly, Aganglionic megacolon, Tracheoeso... ORPHA:59315
Multiple Acyl-Coa Dehydrogenase Deficiency
Depressed nasal bridge, Generalized aminoaciduria, Proximal tubulopathy, Glutaric aciduria, Glyco... OMIM:231680
Intellectual Disability-Cataracts-Calcified Pinnae-Myopathy Syndrome
Narrow chest, Abnormal form of the vertebral bodies, Bilateral cryptorchidism, Osteolysis, Hip co... ORPHA:3042
Leopard Syndrome 1
Cryptorchidism, Aplasia of the ovary, Limited elbow movement, Short neck, Hypospadias, Depressed ... OMIM:151100
Frontorhiny
Cranium bifidum occultum, Finger clinodactyly, Aplasia/Hypoplasia of the corpus callosum, Hypopit... ORPHA:391474
Microphthalmia, Syndromic 1
Tooth malposition, Joint contracture of the hand, Clinodactyly, Cryptorchidism, Anal atresia, Hig... OMIM:309800
Feingold Syndrome 1
Everted lower lip vermilion, High palate, Duodenal atresia, Annular pancreas, Short toe, Depresse... OMIM:164280
Osteopetrosis With Renal Tubular Acidosis
Tooth malposition, Basal ganglia calcification, Pancytopenia, Cerebral calcification, Narrow mout... ORPHA:2785
Atelosteogenesis Type Iii
Absent humerus, Elbow dislocation, Short tibia, Fibular aplasia, Absent radius, Patellar dislocat... ORPHA:56305
Maternal Phenylketonuria
Wide nasal bridge, Clinodactyly, Long philtrum, Intrauterine growth retardation, Anteverted nares... ORPHA:2209
Shwachman-Diamond Syndrome 2
Normocytic anemia, Exocrine pancreatic insufficiency, Hyperechogenic pancreas, Microcephaly, Hepa... OMIM:617941
Spinal Muscular Atrophy With Congenital Bone Fractures 1
Pulmonary hypoplasia, Arthrogryposis multiplex congenita, Flexion contracture, Oligohydramnios, N... OMIM:616866
Microphthalmia, Syndromic 9
Severe short stature, Wide nasal bridge, Renal hypoplasia, Multilobulated spleen, Agenesis of pul... OMIM:601186
46,Xx Sex Reversal With Dysgenesis Of Kidneys, Adrenals, And Lungs
Congenital pulmonary airway malformation, Cleft lip, Intrauterine growth retardation, Oligohydram... OMIM:611812
Meckel Syndrome, Type 2
Intestinal malrotation, Intrauterine growth retardation, Encephalocele, Polydactyly, Bowing of th... OMIM:603194
Autosomal Recessive Malignant Osteopetrosis
Narrow chest, Abnormal epiphysis morphology, Delayed eruption of teeth, Premature loss of primary... ORPHA:667
Biliary, Renal, Neurologic, And Skeletal Syndrome
Broad thumb, Cholestasis, Dark urine, Congenital hepatic fibrosis, Neonatal death, Broad first me... OMIM:619534
Geleophysic Dysplasia 2
Cone-shaped epiphysis, Limitation of joint mobility, Delayed skeletal maturation, Long philtrum, ... OMIM:614185
Joubert Syndrome 21
Occipital encephalocele, Bell-shaped thorax, Encephalocele, Splenomegaly, Short ribs, Hypoplasia ... OMIM:615636
Arima Syndrome
Hepatic fibrosis, Nephronophthisis, Growth delay, Postaxial foot polydactyly, Stage 5 chronic kid... OMIM:243910
Paget Disease Of Bone 2, Early-Onset
Hydroxyprolinuria, Sandwich appearance of vertebral bodies, Fractures of the long bones, Prematur... OMIM:602080
Combined Oxidative Phosphorylation Deficiency 8
Pulmonary hypoplasia, Neonatal death OMIM:614096
Adams-Oliver Syndrome 5
Umbilical hernia, Hypersplenism, Splenomegaly, Portal vein thrombosis, Brachydactyly, Esophageal ... OMIM:616028
Pagod Syndrome
Multicystic kidney dysplasia, Pulmonary artery hypoplasia, Abnormal clavicle morphology, Abnormal... ORPHA:991
Lethal Congenital Contracture Syndrome 5
Thin ribs, Congenital contracture, Decreased fetal movement, Polyhydramnios, Flexion contracture OMIM:615368
Primary Biliary Cholangitis
Hepatic fibrosis, Hepatic failure, Biliary cirrhosis, Hepatitis, Ascites, Portal hypertension, Sp... ORPHA:186
Larsen-Like Syndrome, Lethal Type
Multiple joint dislocation, Joint dislocation, Tracheomalacia, Neonatal death, Pulmonary hypoplasia OMIM:245650
Non-Syndromic Posterior Hypospadias
Urethral diverticulum, Cryptorchidism, Displacement of the urethral meatus, Esophageal atresia, M... ORPHA:95706
Proboscis Lateralis
Abnormal corpus callosum morphology, Choanal atresia, Unilateral renal agenesis, Duplication of r... ORPHA:141099
Congenital Diaphragmatic Hernia
Intestinal malrotation, Prominent sternum, Pulmonary hypoplasia ORPHA:2140
Cirrhosis, Familial
Increased level of L-fucose in urine, Biliary cirrhosis, Micronodular cirrhosis, Ascites, Cirrhos... OMIM:215600
Faciocardiomelic Syndrome
Depressed nasal bridge, Narrow chest, Osteopenia, Dental malocclusion, Slender long bone, Long ph... OMIM:612731
Recessive Dystrophic Epidermolysis Bullosa Inversa
Carious teeth, Oral mucosal blisters, Urethral stricture, Gastrointestinal inflammation, Anemia, ... ORPHA:79409
Aspartylglucosaminuria
Beaking of vertebral bodies, Neutropenia, Hepatomegaly, Cerebral atrophy, Delayed skeletal matura... OMIM:208400
Fanconi Anemia, Complementation Group Q
Bone marrow hypocellularity, Absent thumb, Anteriorly placed anus, Biliary atresia, Microcephaly,... OMIM:615272
Fanconi Anemia, Complementation Group D2
Pancytopenia, Cryptorchidism, Hypoplasia of the corpus callosum, Agenesis of corpus callosum, Neu... OMIM:227646
Dyskeratosis Congenita, Autosomal Recessive 8
Bone marrow hypocellularity, Reduced natural killer cell count, Inflammation of the large intesti... OMIM:620133
Chronic Graft Versus Host Disease
Gastroesophageal reflux, Xerostomia, Elevated circulating hepatic transaminase concentration, Uri... ORPHA:99921
Townes-Brocks Syndrome
Abnormal vertebral morphology, Toe syndactyly, Broad thumb, Cryptorchidism, Agenesis of corpus ca... ORPHA:857
Breasts And/Or Nipples, Aplasia Or Hypoplasia Of, 1
Choanal atresia, Absent nipple OMIM:113700
Plummer-Vinson Syndrome
Narrow mouth, Iron deficiency anemia, Esophageal web, Dysphagia, Hypochromic microcytic anemia, I... ORPHA:54028
Focal Dermal Hypoplasia
Toe syndactyly, Midclavicular aplasia, Supernumerary nipple, Cryptorchidism, Agenesis of corpus c... OMIM:305600
Mycophenolate Mofetil Embryopathy
Tessier cleft, Bifid thoracic vertebrae, Tracheomalacia, Agenesis of corpus callosum, Orofacial c... ORPHA:268249
Orofaciodigital Syndrome I
Carious teeth, Clinodactyly, Ankyloglossia, Ovarian cyst, Agenesis of corpus callosum, High palat... OMIM:311200
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome
Bone marrow hypocellularity, Elevated circulating hepatic transaminase concentration, Lymphopenia... OMIM:615688
Ehlers-Danlos Syndrome, Musculocontractural Type, 1
Delayed cranial suture closure, Narrow mouth, Cryptorchidism, Arachnodactyly, Nephrotic syndrome,... OMIM:601776
Dyskeratosis Congenita, X-Linked
Carious teeth, Pancytopenia, Cryptorchidism, Acute myeloid leukemia, Cirrhosis, Anal mucosal leuk... OMIM:305000
Sacral Agenesis With Vertebral Anomalies
Abnormal vertebral morphology, Unilateral renal agenesis, Absence of the sacrum, Neonatal death, ... OMIM:615709
Bartsocas-Papas Syndrome 1
Hypoplastic scapulae, Hypoplastic iliac wing, Short neck, Absent radius, Anal atresia, Ectopic ki... OMIM:263650
Renpenning Syndrome 1
Joint contracture of the hand, Narrow mouth, Anal atresia, High palate, Hypospadias, Cerebral atr... OMIM:309500
Epidermolysis Bullosa, Junctional 6, With Pyloric Atresia
Congenital pyloric atresia, Oral mucosal blisters, Esophageal stenosis, Neonatal death OMIM:619817
Linear Nevus Sebaceus Syndrome
Genu recurvatum, Aplasia/Hypoplasia of the corpus callosum, Cerebral calcification, Vertebral seg... ORPHA:2612
Chromosome 1P36 Deletion Syndrome, Distal
Cryptorchidism, Hypoplasia of the corpus callosum, Agenesis of corpus callosum, High palate, Shor... OMIM:607872
Pericardial And Diaphragmatic Defect
Meckel diverticulum, Abnormal sternum morphology, Intestinal malrotation, Abnormal gastrointestin... ORPHA:2847
Okamoto Syndrome
Exaggerated median tongue furrow, Open bite, Open mouth, Hypoplasia of the corpus callosum, Urina... ORPHA:2729
Osteoporosis-Pseudoglioma Syndrome
Platyspondyly, Osteopenia, Pathologic fracture, Recurrent fractures, Increased susceptibility to ... OMIM:259770
Wiedemann-Rautenstrauch Syndrome
Thin ribs, Natal tooth, Clinodactyly, Narrow mouth, Cryptorchidism, Agenesis of corpus callosum, ... OMIM:264090
Gabriele-De Vries Syndrome
Oral-pharyngeal dysphagia, Cryptorchidism, Hypoplasia of the corpus callosum, Agenesis of corpus ... ORPHA:506358
Peters Plus Syndrome
Multicystic kidney dysplasia, Toe syndactyly, Aplasia/Hypoplasia of the corpus callosum, Postnata... ORPHA:709
Kabuki Syndrome 1
Abnormal vertebral morphology, Anoperineal fistula, Postnatal growth retardation, Cryptorchidism,... OMIM:147920
Yunis-Varon Syndrome
Hypoplastic scapulae, Toe syndactyly, Clinodactyly, Aspiration pneumonia, Cryptorchidism, Anterio... OMIM:216340
Treacher Collins Syndrome 1
Choanal atresia, Cleft soft palate, Narrow mouth, Cryptorchidism, Wide mouth, Abnormal parotid gl... OMIM:154500
Pallister-Killian Syndrome
Small hand, Postaxial foot polydactyly, Supernumerary nipple, Secondary microcephaly, Delayed cra... OMIM:601803
Cirrhosis-Dystonia-Polycythemia-Hypermanganesemia Syndrome
Elevated circulating hepatic transaminase concentration, Polycythemia, Micronodular cirrhosis, Ab... ORPHA:309854
Feingold Syndrome Type 1
Nephritis, Toe syndactyly, Short thumb, Horseshoe kidney, Short middle phalanx of finger, Renal i... ORPHA:391641
Lysosomal Acid Lipase Deficiency
Hepatic fibrosis, Renal salt wasting, Hepatic failure, Elevated circulating hepatic transaminase ... ORPHA:275761
Proteus Syndrome
Rib exostoses, Pulmonary cyst, Carious teeth, Finger syndactyly, Open mouth, Abnormal metacarpal ... ORPHA:744
Beckwith-Wiedemann Syndrome
Subchorionic septal cyst, Nephropathy, Large placenta, Cryptorchidism, Hepatoblastoma, Hepatomega... ORPHA:116
Nephronophthisis 2
Nephronophthisis, Stage 5 chronic kidney disease, Oligohydramnios, Absence of renal corticomedull... OMIM:602088
Currarino Syndrome
Urinary incontinence, Anal stenosis, Absence of the sacrum, Horseshoe kidney, Gastrointestinal ob... OMIM:176450
Coccidioidomycosis
Pneumonia, Abnormality of the vertebral column, Exudative pleural effusion, Abnormality of the sp... ORPHA:228123
Severe Generalized Junctional Epidermolysis Bullosa
Abnormal fingertip morphology, Multicystic kidney dysplasia, Ureterocele, Urethral stricture, Abn... ORPHA:79404
Ectodermal Dysplasia/Short Stature Syndrome
Delayed eruption of teeth, Hypodontia, Enamel hypoplasia, Short stature, Dysphagia, Esophageal st... OMIM:616029
Ring Chromosome 7 Syndrome
Small hand, Narrow naris, Genu valgum, Narrow mouth, Lumbar kyphoscoliosis, Hypospadias, Short no... ORPHA:1449
Menke-Hennekam Syndrome 1
Everted upper lip vermilion, Overlapping toe, Cryptorchidism, High palate, Short nose, Depressed ... OMIM:618332
Chromosome 17Q12 Duplication Syndrome
Broad thumb, Cleft soft palate, Smooth philtrum, Esophageal atresia, Brachydactyly OMIM:614526
Penile Agenesis
Depressed nasal bridge, Hydroureter, Bilateral renal hypoplasia, Anorectal anomaly, Oligohydramni... ORPHA:49
Oculogastrointestinal Muscular Dystrophy
Spontaneous esophageal perforation, Abnormality of the gastrointestinal tract, Intestinal pseudo-... ORPHA:1876
Noonan Syndrome 1
Clinodactyly, Postnatal growth retardation, Cryptorchidism, Synovitis, Short neck, High palate, H... OMIM:163950
Mckusick-Kaufman Syndrome
Congenital hip dislocation, Hydroureter, Edema, Mesoaxial hand polydactyly, Cryptorchidism, Hydro... OMIM:236700
Orofaciodigital Syndrome Xiv
Occipital encephalocele, Natal tooth, Cryptorchidism, Hypoplasia of the corpus callosum, Epispadi... OMIM:615948
Craniorachischisis
Bifid sternum, Spinal dysraphism, Myelomeningocele, Sirenomelia, Cervical spina bifida, Anal atre... ORPHA:63260
Dpagt1-Cdg
Cerebral cortical atrophy, Elevated circulating hepatic transaminase concentration, Anasarca, Cli... ORPHA:86309
Robin Sequence With Cleft Mandible And Limb Anomalies
Short tibia, Narrow mouth, Short hallux, High palate, Short metacarpal, Hip dislocation, Pierre-R... OMIM:268305
Sacral Defect With Anterior Meningocele
Absence of the sacrum, Hydromyelia, Urinary retention, Myelomeningocele, Myeloschisis, Back pain,... OMIM:600145
Stevens-Johnson Syndrome
Gastrointestinal hemorrhage, Elevated circulating hepatic transaminase concentration, Abnormality... ORPHA:36426
Mowat-Wilson Syndrome Due To Monosomy 2Q22
Tooth malposition, Multicystic kidney dysplasia, Secondary microcephaly, Long hallux, Genu valgum... ORPHA:261537
Roberts-Sc Phocomelia Syndrome
Clinodactyly, Narrow naris, Postnatal growth retardation, Cryptorchidism, Short neck, Abnormal me... OMIM:268300
Osteopetrosis, Autosomal Recessive 7
Recurrent pneumonia, Splenomegaly, Multiple rib fractures, Femur fracture, Hepatomegaly, Osteopet... OMIM:612301
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Severe Form
Chronic kidney disease, Carious teeth, Anal fissure, Ankyloglossia, Narrow mouth, Urethral strict... ORPHA:79408
Oligomeganephronia
Unilateral renal agenesis, Pulmonary hypoplasia, Branchial cyst, Bilateral renal hypoplasia, Decr... ORPHA:2260
Localized Dystrophic Epidermolysis Bullosa, Acral Form
Abnormality of the knee, Esophageal stricture, Abnormality of the elbow ORPHA:158673
Congenital Tracheomalacia
Pneumonia, Abnormal pulmonary artery morphology, Recurrent upper respiratory tract infections, Ga... ORPHA:95430
Mowat-Wilson Syndrome
Tooth malposition, Multicystic kidney dysplasia, Genu valgum, Open mouth, Cryptorchidism, Hypopla... ORPHA:2152
Hydrolethalus Syndrome 1
Agenesis of corpus callosum, Bifid nose, Hypospadias, Preaxial hand polydactyly, Absent septum pe... OMIM:236680
Kindler Syndrome
Anal stenosis, Carious teeth, Periodontitis, Oral leukoplakia, Amniotic constriction ring, Phimos... OMIM:173650
Hemangiomas, Cavernous, Of Face And Supraumbilical Midline Raphe
Bifid sternum, Supraumbilical raphe OMIM:140850
Alström Syndrome
Chronic kidney disease, Testicular fibrosis, Hepatosplenomegaly, Hepatic steatosis, Polycystic ov... ORPHA:64
Alacrima, Achalasia, And Impaired Intellectual Development Syndrome
Downturned corners of mouth, Prominent nose, Achalasia, Short philtrum, Dysphagia, Esophageal ste... OMIM:615510
Renal Tubular Dysgenesis
Anuria, Oligohydramnios, Microcephaly, Widely patent fontanelles and sutures, Pulmonary hypoplasia OMIM:267430
Cardiac-Urogenital Syndrome
Accessory spleen, Wide nasal bridge, Tracheomalacia, Intestinal malrotation, Scimitar anomaly, Cr... OMIM:618280
Loeys-Dietz Syndrome 1
Bifid uvula, Pectus carinatum, Pulmonary artery aneurysm, Abnormal sternum morphology, Spondyloli... OMIM:609192
Scimitar Syndrome
Pulmonary artery hypoplasia, Bronchogenic cyst, Abnormality of the vertebral column, Pneumothorax... ORPHA:185
Meacham Syndrome
Accessory spleen, Horseshoe kidney, Scimitar anomaly, Congenital alveolar dysplasia, Neonatal dea... OMIM:608978
Hereditary Hemorrhagic Telangiectasia
Epistaxis, Cholelithiasis, Gastrointestinal hemorrhage, Hepatic failure, Tongue telangiectasia, N... ORPHA:774
Visceral Myopathy, Familial, With External Ophthalmoplegia
Spontaneous esophageal perforation OMIM:277320
Neurodegeneration And Seizures Due To Copper Transport Defect
Short tibia, Cerebral atrophy, Glandular hypospadias, Pneumothorax, Thickened nuchal skin fold, S... OMIM:620306
Tracheoesophageal Fistula With Or Without Esophageal Atresia
Tracheoesophageal fistula, Esophageal atresia OMIM:189960
Renal Hypodysplasia/Aplasia 1
Proteinuria, Anhydramnios, Oligohydramnios, Pulmonary hypoplasia OMIM:191830
Renal Agenesis
Unilateral renal agenesis, Ureteral agenesis, Oligohydramnios, Renal insufficiency, Proteinuria, ... ORPHA:411709
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 2
Microcolon, Ileal atresia, Anuria, Megacystis, Pyelonephritis, Oligohydramnios, Peritonitis, Pulm... OMIM:619351
Thoracoabdominal Syndrome
Cleft upper lip, Anencephaly, Hypospadias, Cleft palate, Pulmonary hypoplasia OMIM:313850
Leiomyoma Of Vulva And Esophagus
Esophageal obstruction OMIM:150700
Barrett Esophagus
Barrett esophagus, Gastroesophageal reflux, Esophageal carcinoma, Esophageal ulceration OMIM:614266
Truncus Arteriosus
Aplasia/hypoplasia involving bones of the extremities, Pulmonary artery hypoplasia, Abnormal lung... ORPHA:3384
Gastrointestinal Ulceration, Recurrent, With Dysfunctional Platelets
Duodenal ulcer, Iron deficiency anemia, Gastric ulcer, Esophageal ulceration OMIM:618372
Absence Of The Pulmonary Artery
Recurrent pneumonia, Pulmonary edema, Recurrent respiratory infections, Growth delay, Bronchiecta... ORPHA:980
Congenital Total Pulmonary Venous Return Anomaly
Mixed total anomalous pulmonary venous connection, Increased anterioposterior diameter of thorax,... ORPHA:99125
Abnormal Origin Of Right Or Left Pulmonary Artery From The Aorta
Anomalous origin of right pulmonary artery from ascending aorta, Anomalous origin of left pulmona... ORPHA:99050

Histopathology

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

There is no histopathology data for Wbp11

IMPC related publications

The table below lists publications which used either products generated by the IMPC or data produced by the phenotyping efforts of the IMPC. These publications have also been associated to Wbp11.

No publications found that use IMPC mice or data for Wbp11.

Order Mouse and ES Cells

All available products are supplied via our member's centres or partnerships. When ordering a product from the IMPC you will be redirected to one of their websites or prompted to start an email.

MGI Allele Allele Type Produced
Wbp11tm1e(EUCOMM)Hmgu Targeted, non-conditional allele ES Cells
Wbp11tm1a(EUCOMM)Hmgu KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells

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