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Gene: Wbp11 MGI:1891823

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.

Human diseases associated with Wbp11 (1 diseases)
Human diseases predicted to be associated with Wbp11 (1148 diseases)

The table below shows human diseases associated to Wbp11 by orthology or direct annotation.

Disease	Similarity of phenotypes	Matching phenotypes	Source
Vertebral, Cardiac, Tracheoesophageal, Renal, And Limb Defects		Wide nose, Short stature, Choanal atresia, Unilateral renal agenesis, Microcephaly, Pectus excava...	OMIM:619227

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

Disease	Matching phenotypes	Source
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 2	11 pairs of ribs, Depressed nasal bridge, Short stature, Unilateral renal agenesis, Microcephaly,...	OMIM:617661
Spondylocostal Dysostosis 1, Autosomal Recessive	Back pain, Vertebral fusion, Recurrent respiratory infections, Severe short stature, Block verteb...	OMIM:277300
Spondylocostal Dysostosis 2, Autosomal Recessive	Recurrent respiratory infections, Short neck, Vertebral clefting, Rib fusion, Hemivertebrae, Disp...	OMIM:608681
Radioulnar Synostosis-Microcephaly-Scoliosis Syndrome	Finger syndactyly, Abnormality of the philtrum, Premature birth, Short stature, Abnormality of th...	ORPHA:3268
Microcephaly-Cervical Spine Fusion Anomalies Syndrome	Abnormal clavicle morphology, Abnormal dental morphology, Hypospadias, Short stature, Short neck,...	ORPHA:2522
Imperforate Oropharynx-Costovertebral Anomalies Syndrome	Recurrent respiratory infections, Abnormality of the philtrum, Aplasia/Hypoplasia of the tongue, ...	ORPHA:2759
Isolated Klippel-Feil Syndrome	Spina bifida, Short neck, Abnormal sacrum morphology, Abnormal rib morphology, Cleft palate, Abno...	ORPHA:2345
Verheij Syndrome	Branchial cyst, Short neck, Clinodactyly, Hemivertebrae, Renal cyst, Joint laxity, Vertebral fusi...	OMIM:615583
Phosphoribosylaminoimidazole Carboxylase Deficiency	Anteverted nares, Depressed nasal bridge, Choanal atresia, Short neck, Missing ribs, Esophageal a...	OMIM:619859
Spondylocostal Dysostosis 5	Vertebral fusion, Low back pain, Severe short stature, Missing ribs, Short neck, Hemivertebrae, D...	OMIM:122600
Hydrocephalus-Costovertebral Dysplasia-Sprengel Anomaly Syndrome	Anteverted nares, Abnormal dental enamel morphology, Depressed nasal bridge, Prominent nose, Sand...	ORPHA:2180
Acro-Renal-Mandibular Syndrome	Abnormal clavicle morphology, Short neck, Hemivertebrae, Abnormal lung lobation, Orofacial cleft,...	ORPHA:958
Dysostosis Multiplex, Ain-Naz Type	Severe short stature, Glenoid fossa hypoplasia, Hemivertebrae, Hip dislocation, Flat acetabular r...	OMIM:619345
Klippel-Feil Syndrome 2, Autosomal Recessive	Short neck, Cleft upper lip, Cleft palate, Fused cervical vertebrae, Scoliosis, Cervical C2/C3 ve...	OMIM:214300
Sprengel Deformity	Rib segmentation abnormalities, Cervical segmentation defect, Hemivertebrae, Scoliosis, Sprengel ...	OMIM:184400
Autosomal Dominant Spondylocostal Dysostosis	Recurrent respiratory infections, Severe short stature, Anteverted nares, Missing ribs, Short nec...	ORPHA:1797
Mental Retardation, Skeletal Dysplasia, And Abducens Palsy	Prominent metopic ridge, Short stature, Wide nasal bridge, Fused cervical vertebrae, Short middle...	OMIM:309620
X-Linked Skeletal Dysplasia-Intellectual Disability Syndrome	Short stature, Abnormal sacrum morphology, Fused cervical vertebrae, Short middle phalanx of fing...	ORPHA:1436
Bresek Syndrome	Decreased testicular size, Aganglionic megacolon, Microcephaly, Cryptorchidism, Postaxial hand po...	ORPHA:85284
Ritscher-Schinzel Syndrome 1	Syndactyly, Depressed nasal bridge, Hypospadias, Decreased response to growth hormone stimulation...	OMIM:220210
Kniest Dysplasia	Arthropathy, Enlarged epiphyses, Enlarged joints, Abnormality of the epiphysis of the femoral hea...	ORPHA:485
Spondylocostal Dysostosis 4, Autosomal Recessive	Vertebral fusion, Anal stenosis, Neurogenic bladder, Abnormal odontoid process morphology, Block ...	OMIM:613686
Male Hypergonadotropic Hypogonadism-Intellectual Disability-Skeletal Anomalies Syndrome	Hypoplasia of penis, Short stature, Short neck, Abnormal rib morphology, Hemivertebrae, Abnormal ...	ORPHA:2234
Distal Duplication 18Q	Thickened nuchal skin fold, Hypoplasia of penis, Abnormal dental morphology, Anteverted nares, Ch...	ORPHA:1716
Cerebrofaciothoracic Dysplasia	Wide nose, Short stature, Polyhydramnios, Cleft upper lip, Short neck, Short nose, Rib fusion, He...	ORPHA:1394
Vertebral, Cardiac, Tracheoesophageal, Renal, And Limb Defects	Wide nose, Short stature, Choanal atresia, Unilateral renal agenesis, Microcephaly, Pectus excava...	OMIM:619227
Klippel-Feil Syndrome 4, Autosomal Recessive, With Nemaline Myopathy And Facial Dysmorphism	Thin upper lip vermilion, Short stature, Thoracolumbar scoliosis, Short neck, Underdeveloped nasa...	OMIM:616549
Atelosteogenesis, Type I	Polyhydramnios, Short neck, Short metatarsal, Tibial bowing, Knee dislocation, Narrow chest, Neon...	OMIM:108720
Braddock Syndrome	Short stature, Unilateral renal agenesis, Short neck, Pectus excavatum, Missing ribs, Preaxial ha...	ORPHA:52047
Contractures, Pterygia, And Spondylocarpotarsal Fusion Syndrome 1A	Elbow contracture, Multiple pterygia, Short neck, Hemivertebrae, Pectus carinatum, Knee flexion c...	OMIM:178110
Poland Syndrome	Syndactyly, Unilateral oligodactyly, Rib fusion, Hemivertebrae, Unilateral brachydactyly, Short r...	OMIM:173800
Diaphanospondylodysostosis	Short neck, Missing ribs, Myelomeningocele, Short thorax, Cleft palate, Enlarged thorax, Narrow p...	ORPHA:66637
Frontometaphyseal Dysplasia 1	Selective tooth agenesis, Limited elbow movement, Knee flexion contracture, Increased density of ...	OMIM:305620
3C Syndrome	Hypoplasia of penis, Short neck, High, narrow palate, Hemivertebrae, Orofacial cleft, Gastroesoph...	ORPHA:7
Multiple Pterygium Syndrome, X-Linked	Joint dislocation, Vertebral fusion, Abnormal cervical curvature, Polyhydramnios, Cleft upper lip...	OMIM:312150
Osteoglosphonic Dysplasia	Abnormal clavicle morphology, Severe short stature, Anteverted nares, Choanal atresia, Craniosyno...	ORPHA:2645
Intellectual Developmental Disorder With Dysmorphic Facies And Ptosis	Short stature, Joint hypermobility, Reduced cerebral white matter volume, Microcephaly, Narrow mo...	OMIM:617333
Intellectual Disability-Facial Dysmorphism-Hand Anomalies Syndrome	Thin upper lip vermilion, Brachydactyly, Short stature, Microcephaly, Broad nasal tip, Triangular...	ORPHA:370010
Multiple Pterygium Syndrome, Escobar Variant	Multiple joint contractures, Short neck, Flexion contracture, Hydrops fetalis, Knee flexion contr...	OMIM:265000
Brachydactyly, Type B1	Type B brachydactyly, Vertebral fusion, Syndactyly, Hypoplastic sacrum, Thoracolumbar scoliosis, ...	OMIM:113000
Cornelia De Lange Syndrome 4 With Or Without Midline Brain Defects	Hemivertebrae, Coxa vara, Pectus carinatum, Gastroesophageal reflux, Clinodactyly of the 5th fing...	OMIM:614701
Trigonocephaly 1	Craniosynostosis, Microcephaly, High, narrow palate, Long penis, Wide nasal bridge, Lumbar hemive...	OMIM:190440
Cenani-Lenz Syndactyly Syndrome	Premature loss of permanent teeth, Syndactyly, Hypoplasia of the ulna, Broad hallux, Ectopic kidn...	OMIM:212780
Spondylometaphyseal Dysplasia, Corner Fracture Type	Short stature, Ovoid vertebral bodies, Hypoplasia of the odontoid process, Coxa vara, Pectus cari...	OMIM:184255
Mosaic Trisomy 9	Hypoplasia of penis, Polyhydramnios, Short neck, Asplenia, Hemivertebrae, Hydrops fetalis, Abnorm...	ORPHA:99776
Klippel-Feil Syndrome 1, Autosomal Dominant	Unilateral renal agenesis, Short neck, Abnormal rib morphology, Cleft palate, Scoliosis, Cervical...	OMIM:118100
Pallister-Hall Syndrome	Thyroid dysgenesis, Decreased response to growth hormone stimulation test, Ectopic kidney, Hemive...	OMIM:146510
Spondylocostal Dysostosis With Anal Atresia And Urogenital Anomalies	Vertebral fusion, Block vertebrae, Missing ribs, Short neck, Rib fusion, Hemivertebrae, Thin ribs...	OMIM:271520
Congenital Absence Of Upper Arm And Forearm With Hand Present	Syndactyly, Abnormal thorax morphology, Abnormal lung morphology, Cleft palate, Upper limb phocom...	ORPHA:294975
Metatropic Dysplasia	Abnormal intervertebral disk morphology, Depressed nasal bridge, Camptodactyly of finger, Severe ...	ORPHA:2635
Al Kaissi Syndrome	Thin upper lip vermilion, Sacral dimple, Macrodontia, Depressed nasal bridge, Short stature, Broa...	OMIM:617694
Vitamin K Antagonist Embryofetopathy	Brachydactyly, Anteverted nares, Depressed nasal bridge, Choanal atresia, Short neck, Myelomening...	ORPHA:1914
Intellectual Developmental Disorder, Autosomal Dominant 52	Scapular winging, Lumbar hyperlordosis, Anteverted nares, Depressed nasal bridge, Prominent nasal...	OMIM:617796
Acromesomelic Dysplasia, Maroteaux Type	Bowing of the long bones, Depressed nasal bridge, Ovoid vertebral bodies, Hyperlordosis, Joint st...	ORPHA:40
Spondylocostal Dysostosis 6, Autosomal Recessive	Cervical kyphosis, Hemivertebrae, Spinal canal stenosis, Scoliosis, Butterfly vertebrae	OMIM:616566
Lenz-Majewski Hyperostotic Dwarfism	Hyperextensibility of the finger joints, Anterior pituitary hypoplasia, Hemivertebrae, Knee flexi...	OMIM:151050
Lamb-Shaffer Syndrome	Mild postnatal growth retardation, Broad nasal tip, Microcephaly, Fused cervical vertebrae, Hip d...	ORPHA:530983
Becker Nevus Syndrome	Pectus excavatum, Hemivertebrae, Cervical ribs, Scoliosis, Unilateral breast hypoplasia	OMIM:604919
Chronic Recurrent Multifocal Osteomyelitis 2, With Periostitis And Pustulosis	Osteopenia, Hepatomegaly, Neutrophilia, Osteomyelitis, Splenomegaly, Osteolysis, Fused cervical v...	OMIM:612852
Klippel-Feil Syndrome 3, Autosomal Dominant	Thoracic scoliosis, Cervical C3/C4 vertebral fusion, Cervical C5/C6 vertebrae fusion	OMIM:613702
Metatropic Dysplasia	Abnormal metaphyseal vascular invasion, Enlarged joints, Fetal akinesia sequence, Flexion contrac...	OMIM:156530
Multiple Pterygium Syndrome, Lethal Type	Joint dislocation, Vertebral fusion, Abnormal cervical curvature, Polyhydramnios, Fetal akinesia ...	OMIM:253290
Thrombocytopenia-Absent Radius Syndrome	Clinodactyly of the 5th finger, Phocomelia, Genu varum, Finger syndactyly, Fused cervical vertebr...	ORPHA:3320
Contractures, Pterygia, And Spondylocarpotarsal Fusion Syndrome 1B	Fused thoracic vertebrae, Tarsal synostosis, Short neck, Flexion contracture, Absent phalangeal c...	OMIM:618469
Kbg Syndrome	Persistent open anterior fontanelle, Short neck, Finger clinodactyly, Widely-spaced maxillary cen...	ORPHA:2332
Meier-Gorlin Syndrome 1	Genu recurvatum, Lateral clavicle hook, Flat glenoid fossa, Hemivertebrae, Flexion contracture, P...	OMIM:224690
Diamond-Blackfan Anemia 7	Osteopenia, Macrocytic anemia, Choanal atresia, Polyhydramnios, Short thumb, Neutropenia, Osteopo...	OMIM:612562
Oculogastrointestinal Neurodevelopmental Syndrome	Sacral dimple, Short stature, Microcephaly, Hemivertebrae, Horseshoe kidney, Anal atresia, Low ha...	OMIM:619318
Ring Chromosome 21 Syndrome	Fused thoracic vertebrae, Syndactyly, Short stature, Microcephaly, Abnormal thorax morphology, Sm...	ORPHA:1445
Acrorenal-Mandibular Syndrome	Hemivertebrae, High palate, Narrow chest, Hypoplasia of the ulna, Split hand, Split foot, Oligohy...	OMIM:200980
Acrocraniofacial Dysostosis	Abnormal form of the vertebral bodies, Short philtrum, Triphalangeal thumb, Advanced eruption of ...	ORPHA:949
Juberg-Hayward Syndrome	Wide nose, Severe short stature, Hypospadias, Toe syndactyly, Microcephaly, Short thumb, Abnormal...	ORPHA:2319
Autosomal Recessive Spondylocostal Dysostosis	Abnormal intervertebral disk morphology, Short neck, Abnormal form of the vertebral bodies, Verte...	ORPHA:2311
Robinow Syndrome, Autosomal Recessive 1	Tented upper lip vermilion, Dental crowding, Short neck, Clinodactyly, Hemivertebrae, Nephrocalci...	OMIM:268310
Postaxial Polydactyly-Dental And Vertebral Anomalies Syndrome	Thickened nuchal skin fold, Vertebral fusion, Macrodontia, Abnormal dental enamel morphology, Sho...	ORPHA:2916
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome	11 pairs of ribs, Hypoplasia of penis, Hypospadias, Esophageal atresia, Cryptorchidism, Hemiverte...	ORPHA:77298
Craniofacial Dysmorphism, Skeletal Anomalies, And Impaired Intellectual Development Syndrome 1	Hyperextensibility of the finger joints, Decreased response to growth hormone stimulation test, P...	OMIM:213980
Autoimmune Disease, Multisystem, With Facial Dysmorphism	Increased vertebral height, Short philtrum, Gastroesophageal reflux, Hepatomegaly, Lumbar hyperlo...	OMIM:613385
Diaphanospondylodysostosis	Absent in utero ossification of vertebral bodies, Short neck, Depressed nasal ridge, Vertebral se...	OMIM:608022
Femoral-Facial Syndrome	Orofacial cleft, Coxa vara, Vertebral segmentation defect, Aplasia/Hypoplasia of the tibia, Short...	ORPHA:1988
Basal Cell Nevus Syndrome 1	Hemivertebrae, Abnormal sternum morphology, Vertebral fusion, Odontogenic keratocysts of the jaw,...	OMIM:109400
Heart Defects-Limb Shortening Syndrome	Accelerated skeletal maturation, Mesomelic/rhizomelic limb shortening, Kyphosis, Disproportionate...	ORPHA:1354
Spondylometaphyseal Dysplasia, Type A4	Metaphyseal widening, Pectus carinatum, Narrow greater sciatic notch, Osteoporotic tarsals, Enlar...	OMIM:609052
Diastrophic Dysplasia	Joint dislocation, Abnormal clavicle morphology, Cerebral calcification, Proximal placement of th...	ORPHA:628
Gorlin Syndrome	Vertebral fusion, Cerebral calcification, Arachnodactyly, Carious teeth, Cryptorchidism, Hemivert...	ORPHA:377
Intellectual Developmental Disorder, Autosomal Dominant 1	Prominent nose, Hemivertebrae, Depressed nasal ridge, Downturned corners of mouth, Widely spaced ...	OMIM:156200
Gapo Syndrome	Abnormal clavicle morphology, Abnormal form of the vertebral bodies, Decreased skull ossification...	ORPHA:2067
Axial Mesodermal Dysplasia Spectrum	Short neck, Abnormality of the spleen, Anorectal anomaly, Abnormal form of the vertebral bodies, ...	ORPHA:1834
Postaxial Acrofacial Dysostosis	Syndactyly, Hypoplasia of the ulna, Congenital hip dislocation, Choanal atresia, Supernumerary ni...	OMIM:263750
Anophthalmia Plus Syndrome	Choanal atresia, Spina bifida, Abnormal nasal morphology, Non-midline cleft lip, Cleft palate, Bi...	ORPHA:1104
Mosaic Trisomy 14	Hypoplasia of penis, Anteverted nares, Prominent nasal bridge, Hypospadias, Short neck, Camptodac...	ORPHA:1703
Mesomelic Dwarfism-Cleft Palate-Camptodactyly Syndrome	Bowing of the long bones, Camptodactyly of finger, Elbow dislocation, Abnormal lung lobation, Cle...	ORPHA:2631
Amastia, Bilateral, With Ureteral Triplication And Dysmorphism	Syndactyly, Absent nipple, Depressed nasal bridge, Congenital hip dislocation, Pectus excavatum, ...	OMIM:104350
Apert Syndrome	Limited elbow movement, Delayed epiphyseal ossification, Pectus carinatum, Cutaneous finger synda...	OMIM:101200
Spinal Dysplasia, Anhalt Type	Osteoarthritis of the small joints of the hand, Short stature, Thoracolumbar scoliosis, Coxa vara...	OMIM:601344
X-Linked Intellectual Disability, Snyder Type	Dental crowding, Ectopic kidney, Pectus carinatum, High palate, Short philtrum, Long toe, Antever...	ORPHA:3063
Fg Syndrome Type 1	Dental crowding, Prominent nose, Generalized joint laxity, Abnormal sternum morphology, Fused tee...	ORPHA:93932
Spondylocostal Dysostosis 3, Autosomal Recessive	Contracture of the proximal interphalangeal joint of the 2nd finger, Short stature, Kyphosis, Hyp...	OMIM:609813
Poland Syndrome	Aplasia/Hypoplasia of the thumb, Short neck, Hemivertebrae, Pectus carinatum, Reduced bone minera...	ORPHA:2911
Atelosteogenesis, Type Ii	Cervical kyphosis, Short neck, Increased intervertebral space, Lumbar hyperlordosis, Depressed na...	OMIM:256050
Microform Holoprosencephaly	Narrow nasal bridge, Hypoplasia of penis, Tented upper lip vermilion, Anteverted nares, Choanal a...	ORPHA:280200
Zttk Syndrome	Unilateral lung agenesis, Flexion contracture, Hemivertebrae, Downturned corners of mouth, High p...	OMIM:617140
Cardioneuromyopathy With Hyaline Masses And Nemaline Rods	Fusion of midcervical facet joints, Widening of cervical spinal canal, Cervical vertebral bodies ...	OMIM:606842
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome	Diffuse cerebral atrophy, Severe B lymphocytopenia, Biliary hyperplasia, Choanal stenosis, Microp...	ORPHA:83617
Ehlers-Danlos Syndrome, Classic-Like, 2	Osteopenia, Hallux valgus, Thoracic scoliosis, Short neck, Cryptorchidism, Facet joint arthrosis,...	OMIM:618000
Proximal 16P11.2 Microduplication Syndrome	Abnormal basal ganglia MRI signal intensity, Thin upper lip vermilion, Short stature, Arachnodact...	ORPHA:370079
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14	Tented upper lip vermilion, Polyhydramnios, Short neck, Deep philtrum, Flexion contracture, Hemiv...	ORPHA:96334
Fanconi Anemia, Complementation Group I	Short stature, Decreased response to growth hormone stimulation test, Absent septum pellucidum, S...	OMIM:609053
Fibrodysplasia Ossificans Progressiva	Hallux valgus, Small cervical vertebral bodies, Progressive cervical vertebral spine fusion, Ecto...	OMIM:135100
Burn-Mckeown Syndrome	Short stature, Choanal atresia, Prominent nasal bridge, Cleft upper lip, Underdeveloped nasal ala...	OMIM:608572
Greenberg Dysplasia	Polyhydramnios, Beaded ribs, Multiple prenatal fractures, Patchy variation in bone mineral densit...	OMIM:215140
Chondrodysplasia Punctata 2, X-Linked Dominant	Rhizomelia, Kyphoscoliosis, Short neck, Polyhydramnios, Edema, Abnormal thorax morphology, Postna...	OMIM:302960
Duane-Radial Ray Syndrome	Abnormal nasopharynx morphology, Preaxial polydactyly, Shoulder dislocation, Choanal stenosis, Tr...	OMIM:607323
Thakker-Donnai Syndrome	Anteverted nares, Short neck, Bulbous nose, Hemivertebrae, Tracheoesophageal fistula, Downturned ...	ORPHA:1780
Frontometaphyseal Dysplasia	Limited elbow movement, Metaphyseal widening, Short metatarsal, Oligodontia, Spina bifida occulta...	ORPHA:1826
Fetal Akinesia Deformation Sequence 1	Elbow contracture, Polyhydramnios, Short neck, Fetal akinesia sequence, High, narrow palate, Cong...	OMIM:208150
Arthrogryposis, Distal, Type 1C	Short neck, Knee flexion contracture, High palate, Clinodactyly of the 5th finger, Camptodactyly ...	OMIM:619110
Lamb-Shaffer Syndrome	Dental crowding, Depressed nasal bridge, Overlapping toe, Long fingers, Bulbous nose, Vertebral c...	OMIM:616803
Cornelia De Lange Syndrome 1	Proximal placement of thumb, Short neck, Ectopic kidney, High, narrow palate, Renal cyst, Downtur...	OMIM:122470
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked	Clinodactyly, Hemivertebrae, Widely-spaced maxillary central incisors, Gastroesophageal reflux, M...	OMIM:301040
Gordon Syndrome	Finger syndactyly, Short stature, Camptodactyly of finger, Pectus excavatum, Cryptorchidism, Limi...	ORPHA:376
Endosteal Hyperostosis, Worth Type	Sclerotic vertebral body, Generalized osteosclerosis, Abnormal rib morphology, Abnormal form of t...	ORPHA:2790
Antley-Bixler Syndrome	Anteverted nares, Choanal atresia, Recurrent fractures, Craniosynostosis, Joint stiffness, Narrow...	ORPHA:83
Chromosome 13Q33-Q34 Deletion Syndrome	Irregular dentition, Tented upper lip vermilion, Anteriorly placed anus, High palate, Narrow ches...	OMIM:619148
Intellectual Developmental Disorder, X-Linked 99, Syndromic, Female-Restricted	Prominent nose, Bifid uvula, Joint laxity, Depressed nasal bridge, Short stature, Tapered finger,...	OMIM:300968
Mosaic Trisomy 20	Vertebral fusion, Down-sloping shoulders, Cleft lip, Kyphosis, Cryptorchidism, Spinal canal steno...	ORPHA:1724
Bryant-Li-Bhoj Neurodevelopmental Syndrome 2	Joint laxity, Prominent metopic ridge, Short stature, Arachnodactyly, Postaxial polydactyly, Micr...	OMIM:619721
Raine Syndrome	Cerebral calcification, Short neck, High palate, Choanal stenosis, Neonatal death, Microdontia, L...	OMIM:259775
Stapes Ankylosis With Broad Thumbs And Toes	Toe syndactyly, Broad hallux, Underdeveloped nasal alae, Long nose, Proximal/middle symphalangism...	OMIM:184460
Frontonasal Dysplasia-Bifid Nose-Upper Limb Anomalies Syndrome	Thin upper lip vermilion, Wide nose, Abnormal nasal bone morphology, Choanal atresia, Underdevelo...	ORPHA:521308
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 3	Vertebral fusion, Sacral dimple, Unilateral renal agenesis, Short thorax, Ureteral atresia, Verte...	OMIM:618845
Crouzon Syndrome-Acanthosis Nigricans Syndrome	Choanal atresia, Abnormal sacrum morphology, Abnormal form of the vertebral bodies, Abnormal meta...	ORPHA:93262
Neurogenic Thoracic Outlet Syndrome	Abnormal rib morphology	ORPHA:100073
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type	Osteopenia, Polyhydramnios, Beaded ribs, Short neck, Multiple prenatal fractures, Flexion contrac...	OMIM:616897
Achondrogenesis Type 1B	Thickened nuchal skin fold, Severe short stature, Anteverted nares, Polyhydramnios, Short neck, A...	ORPHA:93298
Aarskog-Scott Syndrome	Genu recurvatum, Short neck, Orofacial cleft, Short palm, Clinodactyly of the 5th finger, Abnorma...	ORPHA:915
Thrombocytopenia-Absent Radius Syndrome	Ureteral duplication, Edema of the dorsum of feet, Edema of the dorsum of hands, Lateral clavicle...	OMIM:274000
Vertebral Anomalies And Variable Endocrine And T-Cell Dysfunction	Hypoparathyroidism, Depressed nasal bridge, Decreased response to growth hormone stimulation test...	OMIM:618223
Kyphomelic Dysplasia	Bowing of the long bones, Anterior rib cupping, Missing ribs, Lateral clavicle hook, Joint stiffn...	ORPHA:1801
Aicardi Syndrome	Proximal placement of thumb, Partial agenesis of the corpus callosum, Hemivertebrae, Hepatoblasto...	OMIM:304050
Robinow Syndrome	Dental crowding, Hemivertebrae, Orofacial cleft, Webbed penis, Micropenis, Fused thoracic vertebr...	ORPHA:97360
Microcephaly With Cervical Spine Fusion Anomalies	Vertebral fusion, Short stature, Spinal instability, Microcephaly	OMIM:251250
Autosomal Dominant Robinow Syndrome	Hypoplasia of penis, Short neck, High, narrow palate, Abnormality of the gingiva, Epispadias, Hem...	ORPHA:3107
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome	Thoracic scoliosis, Short neck, Generalized joint laxity, Thoracic kyphosis, Hypermobility of int...	ORPHA:508498
Dysspondyloenchondromatosis	Joint dislocation, Cerebral calcification, Enlarged joints, Short stature, Kyphoscoliosis, Osteoa...	ORPHA:85198
Familial Congenital Mirror Movements	Fused cervical vertebrae, Agenesis of corpus callosum	ORPHA:238722
Anauxetic Dysplasia 2	Short neck, Flexion contracture, Coxa vara, Short stature, Thoracolumbar kyphoscoliosis, Hypoplas...	OMIM:617396
Microphthalmia, Syndromic 3	Vertebral fusion, Hypospadias, Anterior pituitary hypoplasia, Short stature, Missing ribs, Microc...	OMIM:206900
Femoral-Facial Syndrome	Short fourth metatarsal, Limited elbow movement, Hemivertebrae, Sprengel anomaly, Gastroesophagea...	OMIM:134780
Meier-Gorlin Syndrome 7	Urethral stricture, Bowing of the legs, Anteriorly placed anus, Vertebral segmentation defect, Hi...	OMIM:617063
Restrictive Dermopathy 1	Ureteral duplication, Spontaneous chorioamniotic separation, Polyhydramnios, Flexion contracture,...	OMIM:275210
Wildervanck Syndrome	Fused cervical vertebrae	OMIM:314600
Sifrim-Hitz-Weiss Syndrome	Renal insufficiency, Wormian bones, Short stature, Tapered finger, Cryptorchidism, Flat acetabula...	OMIM:617159
Chromosome 8Q22.1 Duplication Syndrome	Hallux valgus, Enlarged interphalangeal joints, Short metacarpal, Genu recurvatum, Interphalangea...	OMIM:151200
Shashi-Pena Syndrome	Thin upper lip vermilion, Short metacarpal, Unilateral renal agenesis, Broad nasal tip, Reduced c...	OMIM:617190
Hypo- And Hypermelanotic Cutaneous Macules-Retarded Growth-Intellectual Disability Syndrome	Abnormal rib morphology, Short stature, Microcephaly	ORPHA:2435
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency	Adrenal hyperplasia, High, narrow palate, Clinodactyly, Flexion contracture, Femoral bowing, Ante...	ORPHA:95699
Vacterl/Vater Association	Occipital encephalocele, Hypoplasia of penis, Abnormal intervertebral disk morphology, Polyhydram...	ORPHA:887
Pseudotrisomy 13 Syndrome	11 pairs of ribs, Encephalocele, Cleft upper lip, Microcephaly, Cryptorchidism, Postaxial hand po...	OMIM:264480
Spondylometaphyseal Dysplasia, Axial	Short stature, Anterior rib cupping, Rhizomelia, Splenomegaly, Proximal femoral metaphyseal irreg...	OMIM:602271
Marfanoid Habitus-Autosomal Recessive Intellectual Disability Syndrome	Osteopenia, Wide nose, Arachnodactyly, Joint hypermobility, Pectus excavatum, Delayed skeletal ma...	ORPHA:2463
Cleft Palate-Short Stature-Vertebral Anomalies Syndrome	Thin upper lip vermilion, Anteverted nares, Short stature, Short neck, Cleft palate, Short nose, ...	ORPHA:2015
Septopreoptic Holoprosencephaly	Megalencephaly, Microcephaly, Perisylvian polymicrogyria, Abnormal rib morphology, Anteriorly pla...	ORPHA:280195
Larsen-Like Osseous Dysplasia-Short Stature Syndrome	Short stature, Abnormal metacarpal morphology, Abnormal form of the vertebral bodies, Reduced bon...	ORPHA:2370
Frontometaphyseal Dysplasia 2	Congenital hip dislocation, Elbow contracture, Deep philtrum, Short metatarsal, Finger clinodacty...	OMIM:617137
Koolen-De Vries Syndrome	Ureteral duplication, High, narrow palate, Vertebral segmentation defect, Vesicoureteral reflux, ...	ORPHA:96169
Prune Belly Syndrome	Congenital hip dislocation, Vertebral segmentation defect, Vesicoureteral reflux, Multicystic kid...	ORPHA:2970
Nemaline Myopathy 9	Polyhydramnios, Fetal akinesia sequence, Breech presentation, Cleft palate, High palate, Narrow c...	OMIM:615731
Brachyolmia, Maroteaux Type	Short stature, Pectus excavatum, Short thorax, Abnormal form of the vertebral bodies, Platyspondy...	ORPHA:93302
Apert Syndrome	Delayed eruption of teeth, Aplasia/Hypoplasia of the thumb, Finger syndactyly, Toe syndactyly, De...	ORPHA:87
Autosomal Dominant Popliteal Pterygium Syndrome	Thin upper lip vermilion, Finger syndactyly, Toe syndactyly, Choanal atresia, Lip pit, Joint stif...	ORPHA:1300
Metaphyseal Chondrodysplasia, Jansen Type	Hypoparathyroidism, Osteopenia, Hyperphosphaturia, Hip contracture, Severe short stature, Choanal...	OMIM:156400
Holzgreve Syndrome	Abnormally ossified vertebrae, Aplasia/Hypoplasia of the tongue, Abnormal morphology of ulna, Joi...	ORPHA:2167
Odontochondrodysplasia 1	Genu recurvatum, Metaphyseal widening, Pectus carinatum, Narrow chest, Nephronophthisis, Short ph...	OMIM:184260
Congenital Unilateral Hypoplasia Of Depressor Anguli Oris	Short stature, Microcephaly, Joint stiffness, Cryptorchidism, Cleft palate, Tooth agenesis, Verte...	ORPHA:1166
Mesomelic Dysplasia, Kantaputra Type	Short stature, Camptodactyly of finger, Tarsal synostosis, Abnormality of the humerus, Abnormal r...	ORPHA:1836
Corpus Callosum Agenesis-Intellectual Disability-Coloboma-Micrognathia Syndrome	Short stature, Choanal atresia, Prominent nasal bridge, Short neck, Pectus excavatum, Cleft palat...	ORPHA:52055
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome	Abnormal clavicle morphology, Bowing of the long bones, Rhizomelia, Proximal placement of thumb, ...	ORPHA:93267
Thanatophoric Dysplasia, Type I	Champagne cork sign, Polyhydramnios, Short neck, Femoral bowing, Narrow chest, Neonatal death, Sm...	OMIM:187600
Osteoglophonic Dysplasia	Osteopenia, Short neck, Short metatarsal, Eruption failure, High palate, Short palm, Pseudoarthro...	OMIM:166250
Ulna Metaphyseal Dysplasia Syndrome	Abnormal dental morphology, Short stature, Abnormal morphology of ulna, Abnormality of the dentit...	ORPHA:1837
Otopalatodigital Syndrome Type 1	Increased bone mineral density, Bowing of the long bones, Depressed nasal bridge, Sandal gap, Pro...	ORPHA:90650
Sprengel Deformity	Abnormal shoulder morphology, Cleft palate, Short neck	ORPHA:3181
Smith-Lemli-Opitz Syndrome	Hypoplasia of penis, Polyhydramnios, Short neck, Proximal placement of thumb, Abnormal lung lobat...	ORPHA:818
Sweeney-Cox Syndrome	Polyhydramnios, Asplenia, Bilateral cryptorchidism, High palate, Narrow chest, Short philtrum, Ga...	OMIM:617746
Microcephaly 10, Primary, Autosomal Recessive	Prominent nasal bridge, Choanal atresia, Reduced cerebral white matter volume, Simplified gyral p...	OMIM:615095
Lowry-Maclean Syndrome	Osteopenia, Bilateral cryptorchidism, High, narrow palate, Downturned corners of mouth, Hypospadi...	ORPHA:2409
Lethal Congenital Contracture Syndrome Type 1	Short stature, Recurrent fractures, Polyhydramnios, Short neck, Limitation of joint mobility, Abn...	ORPHA:1486
Progressive Non-Infectious Anterior Vertebral Fusion	Proximal radio-ulnar synostosis, Abnormal intervertebral disk morphology, Depressed nasal bridge,...	ORPHA:2062
Opitz-Kaveggia Syndrome	Multiple joint contractures, Dental crowding, Short neck, Prominent nose, Partial agenesis of the...	OMIM:305450
Congenital Disorder Of Glycosylation, Type Iig	Osteopenia, Thoracic scoliosis, Short neck, Glossoptosis, Vertebral segmentation defect, High pal...	OMIM:611209
Doors Syndrome	Adrenal hyperplasia, Short lingual frenulum, Abnormal placental membrane morphology, Polyhydramni...	ORPHA:79500
Trisomy 10P	Hemivertebrae, Simplified gyral pattern, Orofacial cleft, High palate, Gastroesophageal reflux, A...	ORPHA:171929
Schneckenbecken Dysplasia	Polyhydramnios, Short neck, Lateral clavicle hook, Snail-like ilia, Narrow chest, Nonimmune hydro...	OMIM:269250
Spondyloepiphyseal Dysplasia Tarda, Autosomal Recessive, Leroy-Spranger Type	Lumbar hyperlordosis, Decreased hip abduction, Flat capital femoral epiphysis, Disproportionate s...	OMIM:609223
Platyspondylic Dysplasia, Torrance Type	Short palm, Bowing of the long bones, Hypoplastic scapulae, Depressed nasal bridge, Polyhydramnio...	ORPHA:85166
Achondrogenesis, Type Ia	Abnormal femoral metaphysis morphology, Polyhydramnios, Beaded ribs, Short neck, Abnormal hand bo...	OMIM:200600
Marshall-Smith Syndrome	Irregular dentition, Thoracic scoliosis, Large sternal ossification centers, Accelerated skeletal...	OMIM:602535
Developmental And Speech Delay Due To Sox5 Deficiency	Thoracic kyphoscoliosis, Exaggerated median tongue furrow, Lumbar hyperlordosis, Dental crowding,...	ORPHA:313892
Keratoconus Posticus Circumscriptus	Limited elbow extension and supination, Short neck, Cleft upper lip, Cleft palate, Growth delay, ...	OMIM:244600
Aphalangy-Hemivertebrae-Urogenital-Intestinal Dysgenesis Syndrome	Finger syndactyly, Toe syndactyly, Elbow dislocation, Aplasia/Hypoplasia of the phalanges of the ...	ORPHA:1112
Jeune Syndrome	Abnormal clavicle morphology, Renal insufficiency, Toe syndactyly, Short stature, Postaxial hand ...	ORPHA:474
Hypogonadotropic Hypogonadism 2 With Or Without Anosmia	Osteopenia, Short stature, Choanal atresia, Cleft upper lip, Cryptorchidism, Clinodactyly, Anosmi...	OMIM:147950
Vacterl With Hydrocephalus	Absence of the sacrum, Polyhydramnios, Spina bifida, Esophageal atresia, Cryptorchidism, Hypoplas...	ORPHA:3412
Corpus Callosum, Agenesis Of, With Impaired Intellectual Development, Ocular Coloboma, And Micrognathia	Short stature, Thoracolumbar scoliosis, Choanal atresia, Short neck, Pectus excavatum, Prominent ...	OMIM:300472
Symbrachydactyly Of Hands And Feet	Aplasia/Hypoplasia of the thumb, Abnormal morphology of ulna, Abnormality of the humerus, Vertebr...	ORPHA:1570
Axial Spondylometaphyseal Dysplasia	Osteopenia, Aplasia/Hypoplasia of the vertebrae, Thoracic scoliosis, Mild postnatal growth retard...	ORPHA:168549
Pseudoachondroplasia	Limited hip extension, Distal joint laxity, Delayed epiphyseal ossification, Osteoarthritis, Gene...	ORPHA:750
Rere-Related Neurodevelopmental Syndrome	Hypospadias, Anteverted nares, Choanal atresia, Postnatal growth retardation, Cryptorchidism, Hip...	ORPHA:494344
Wildervanck Syndrome	Fused cervical vertebrae, Meningocele, Short neck	ORPHA:3456
Growth Delay-Hydrocephaly-Lung Hypoplasia Syndrome	Abnormally ossified vertebrae, Cerebral calcification, Bowing of the long bones, Intestinal malro...	ORPHA:3035
Achondrogenesis Type 1A	Thickened nuchal skin fold, Multiple rib fractures, Short palm, Severe short stature, Anteverted ...	ORPHA:93299
Autosomal Dominant Brachyolmia	Short stature, Kyphoscoliosis, Increased vertebral height, Short thorax, Platyspondyly, Abnormal ...	ORPHA:93304
Platyspondylic Lethal Skeletal Dysplasia, Torrance Type	Polyhydramnios, Short neck, Narrow chest, Neonatal short-limb short stature, Radial bowing, Depre...	OMIM:151210
Distal 22Q11.2 Microdeletion Syndrome	High, narrow palate, Short palm, Clinodactyly of the 5th finger, Branchial fistula, Premature bir...	ORPHA:261330
Limb Body Wall Complex	Amniotic constriction ring, Abnormality of the liver, Cutaneous finger syndactyly, Aplasia of the...	ORPHA:2369
Short Stature, Amelogenesis Imperfecta, And Skeletal Dysplasia With Scoliosis	Accelerated skeletal maturation, Irregular vertebral endplates, Knee dislocation, High palate, Am...	OMIM:618363
Diastrophic Dysplasia	Hip contracture, Lumbar hyperlordosis, Cervical kyphosis, Kyphoscoliosis, Costal cartilage calcif...	OMIM:222600
Vater/Vacterl Association	Occipital encephalocele, Abnormal nasopharynx morphology, Ectopic kidney, Preaxial polydactyly, A...	OMIM:192350
Spondylometaphyseal Dysplasia, 'Corner Fracture' Type	Short neck, Clinodactyly, Coxa vara, Pectus carinatum, Reduced bone mineral density, Iron deficie...	ORPHA:93315
Kabuki Syndrome	Hypoplasia of penis, Hemivertebrae, Orofacial cleft, Abnormal form of the vertebral bodies, High ...	ORPHA:2322
Esophageal Atresia	Polyhydramnios, Bronchitis, Gastrointestinal dysmotility, Anorectal anomaly, Clinodactyly, Gastro...	ORPHA:1199
Catel-Manzke Syndrome	Short stature, Camptodactyly of finger, Joint stiffness, Pectus excavatum, Metatarsus valgus, Rad...	ORPHA:1388
Neurodevelopmental Disorder With Microcephaly, Hypotonia, Nystagmus, And Seizures	Decreased fetal movement, Anteverted nares, Microcephaly, Corpus callosum atrophy, Cerebral atrop...	OMIM:619876
Achondrogenesis Type 2	Delayed vertebral ossification, Absent vertebral body mineralization, Short stature, Edema, Hypop...	ORPHA:93296
Mayer-Rokitansky-Küster-Hauser Syndrome Type 2	Short stature, Ectopic kidney, Short neck, Abnormal rib morphology, Vertebral segmentation defect	ORPHA:2578
Greenberg Dysplasia	Abnormal leukocyte morphology, Abnormally ossified vertebrae, Rhizomelia, Lymphedema, Abnormal pe...	ORPHA:1426
Mucopolysaccharidosis, Type Iva	Short neck, Epiphyseal deformities of tubular bones, Metaphyseal widening, Pectus carinatum, Wide...	OMIM:253000
Trisomy 18	Short stature, Spina bifida, Esophageal atresia, Cryptorchidism, Delayed skeletal maturation, Abn...	ORPHA:3380
X-Linked Intellectual Disability, Abidi Type	Short stature, Prominent nasal bridge, Microcephaly, Pectus excavatum, Non-midline cleft lip, Cle...	ORPHA:85273
Caudal Regression Syndrome	Ureteral duplication, Renal insufficiency, Missing ribs, Ectopic kidney, Cryptorchidism, Joint st...	ORPHA:3027
Craniosynostosis, Herrmann-Opitz Type	Finger syndactyly, Brachydactyly, Short stature, Craniosynostosis, Abnormality of the urethra, Sp...	ORPHA:2145
Marshall-Smith Syndrome	Bowing of the long bones, Anteverted nares, Choanal atresia, Craniosynostosis, Protruding tongue,...	ORPHA:561
Pontine Tegmental Cap Dysplasia	Rib fusion, Hemivertebrae, Dysphagia, Ankle clonus, Hypoplasia of the corpus callosum, Scoliosis	OMIM:614688
Campomelia, Cumming Type	Hepatomegaly, Abnormally ossified vertebrae, Multicystic kidney dysplasia, Brachydactyly, Bowing ...	ORPHA:1318
Lenz-Majewski Hyperostotic Dwarfism	High, narrow palate, Epispadias, Abnormal finger morphology, Symphalangism affecting the phalange...	ORPHA:2658
Diabetes Mellitus, Neonatal, With Congenital Hypothyroidism	Osteopenia, Renal cyst, Hepatic fibrosis, Pancreatic hypoplasia, Hepatomegaly, Depressed nasal br...	OMIM:610199
Restrictive Dermopathy	Osteopenia, Ureteral duplication, Multiple joint contractures, Premature delivery because of cerv...	ORPHA:1662
Chromosome 9P Deletion Syndrome	Short neck, High, narrow palate, Deep philtrum, High palate, Micropenis, Long toe, Anteverted nar...	OMIM:158170
Ulna And Fibula, Absence Of, With Severe Limb Deficiency	Short neck, Hemivertebrae, Pectus carinatum, Femoral bowing, High palate, Foot oligodactyly, Apla...	OMIM:276820
Robin Sequence-Oligodactyly Syndrome	Abnormal morphology of ulna, Abnormality of the dentition, Hand oligodactyly, Abnormal form of th...	ORPHA:3104
Acrocapitofemoral Dysplasia	Cone-shaped metacarpal epiphyses, Short stature, Ovoid vertebral bodies, Abnormal femoral neck mo...	ORPHA:63446
Chops Syndrome	Anteverted nares, Short stature, Tracheomalacia, Microcephaly, High, narrow palate, Cryptorchidis...	OMIM:616368
Cutis Laxa, Autosomal Recessive, Type Iie	Joint laxity, Syndactyly, Brachydactyly, Lumbar hyperlordosis, Short stature, Ovoid vertebral bod...	OMIM:619451
Three M Syndrome 1	Joint dislocation, Short neck, Increased vertebral height, Clinodactyly of the 5th finger, Spina ...	OMIM:273750
Spondyloepimetaphyseal Dysplasia, Irapa Type	Short metacarpal, Osteoarthritis, Limitation of joint mobility, Abnormal rib morphology, Abnormal...	ORPHA:93351
Cartilage-Hair Hypoplasia	Metaphyseal widening, Coxa vara, Femoral bowing, Narrow chest, Neutropenia, Short palm, Neonatal ...	OMIM:250250
Multiple Epiphyseal Dysplasia, Beighton Type	Thoracic scoliosis, Osteoarthritis, Pedal edema, Coxa vara, Double-layered patella, Abnormal hip ...	ORPHA:166011
Fibrochondrogenesis 1	Short neck, Hydrops fetalis, Narrow greater sciatic notch, Short palm, Clinodactyly of the 5th fi...	OMIM:228520
Camptodactyly Syndrome, Guadalajara Type 1	Abnormal form of the vertebral bodies, Pectus carinatum, Downturned corners of mouth, High palate...	ORPHA:1327
3M Syndrome	Congenital hip dislocation, Short neck, Increased vertebral height, Enlarged thorax, Clinodactyly...	ORPHA:2616
Spondylocarpotarsal Synostosis Syndrome	Short neck, Renal cyst, Pectus carinatum, Coxa vara, Vertebral segmentation defect, Clinodactyly ...	OMIM:272460
Orofaciodigital Syndrome Type 4	Joint dislocation, Abnormal oral mucosa morphology, High, narrow palate, Abnormality of the gingi...	ORPHA:2753
Distal Deletion 17Q	Aplasia/Hypoplasia of the thumb, Prominent metopic ridge, Hepatomegaly, Abnormality of the philtr...	ORPHA:1597
Osteogenesis Imperfecta, Type Ix	Short lower limbs, Recurrent fractures, Beaded ribs, Pectus excavatum, Kyphosis, Multiple prenata...	OMIM:259440
Aspergillosis	Osteomyelitis, Eosinophilia, Pneumonia, Hypersensitivity pneumonitis, Abnormal rib morphology, Br...	ORPHA:1163
Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy	Protruding tongue, Hyperlordosis, Atelectasis, Flexion contracture, Dysphagia, Macroglossia, Gast...	ORPHA:258
Cardiospondylocarpofacial Syndrome	Pseudoepiphyses, Gastroesophageal reflux, Vesicoureteral reflux, Joint laxity, Anteverted nares, ...	OMIM:157800
Mucopolysaccharidosis Type 4	Joint dislocation, Short neck, Pectus carinatum, Reduced bone mineral density, Anteverted nares, ...	ORPHA:582
Deeah Syndrome	Decreased hemoglobin concentration, Decreased response to growth hormone stimulation test, Anteri...	OMIM:619004
Auricular Abnormalities-Cleft Lip With Or Without Cleft Palate-Ocular Abnormalities Syndrome	Intestinal malrotation, Underdeveloped nasal alae, Pectus excavatum, Kyphosis, Deep philtrum, Inc...	ORPHA:77300
Burn-Mckeown Syndrome	Short stature, Prominent nasal bridge, Wide nasal bridge, Abnormal palate morphology, Short nose,...	ORPHA:1200
Noonan Syndrome 7	Depressed nasal bridge, Joint hypermobility, Short stature, Short neck, Pectus excavatum, Pectus ...	OMIM:613706
Otopalatodigital Syndrome Type 2	Preaxial polydactyly, Glossoptosis, Oligodontia, Narrow chest, Short palm, Abnormal vertebral seg...	ORPHA:90652
Roifman Syndrome	Downturned corners of mouth, Irregular vertebral endplates, Clinodactyly of the 5th finger, Hepat...	OMIM:616651
Edinburgh Malformation Syndrome	Anteverted nares, Choanal atresia, Accelerated skeletal maturation, Joint stiffness, Long fingers...	ORPHA:1895
Brachyolmia Type 1, Toledo Type	Back pain, Broad tibial metaphyses, Kyphoscoliosis, Short neck, Childhood-onset short-trunk short...	OMIM:271630
Three M Syndrome 2	Short neck, Pectus carinatum, High palate, Intrauterine growth retardation, Scapular winging, Lum...	OMIM:612921
Microcephalic Primordial Dwarfism, Montreal Type	Severe short stature, Microcephaly, Open bite, Carious teeth, Kyphosis, Cryptorchidism, Congenita...	ORPHA:2617
Acromicric Dysplasia	Short palm, Short metacarpal, Severe short stature, Anteverted nares, Ovoid vertebral bodies, Nar...	OMIM:102370
Spondylomegaepiphyseal Dysplasia With Upper Limb Mesomelia, Punctate Calcifications, And Deafness	Broad toe, Lumbar hyperlordosis, Enlarged metacarpal epiphyses, Cupped ribs, Enlarged epiphyses o...	OMIM:609616
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome	Unilateral lung agenesis, Gastrointestinal dysmotility, Hemivertebrae, Simplified gyral pattern, ...	ORPHA:500150
Thanatophoric Dysplasia, Type Ii	Decreased fetal movement, Small abnormally formed scapulae, Polyhydramnios, Hypoplastic ilia, Wid...	OMIM:187601
Spondyloepimetaphyseal Dysplasia, Strudwick Type	Brachydactyly, Severe short stature, Club-shaped proximal femur, Anterior rib cupping, Hyperlordo...	OMIM:184250
Metaphyseal Chondrodysplasia, Schmid Type	Broad proximal phalanges of the hand, Short tubular bones of the hand, Bowing of the legs, Proxim...	ORPHA:174
Citrullinemia, Type Ii, Adult-Onset	Portal inflammation, Elevated circulating alanine aminotransferase concentration, Ballooning hepa...	OMIM:603471
Achondrogenesis, Type Ii	Barrel-shaped chest, Absent vertebral body mineralization, Broad long bones, Polyhydramnios, Edem...	OMIM:200610
Rhizomelic Syndrome, Urbach Type	Abnormality of the knee, Brachydactyly, Depressed nasal bridge, Short stature, Rhizomelia, Short ...	ORPHA:3098
Monosomy 9P	Proximal placement of thumb, Short neck, High palate, Agenesis of corpus callosum, Anteverted nar...	ORPHA:261112
Pallister-Hall Syndrome	Ectopic kidney, Hemivertebrae, Depressed nasal ridge, Gonadotropin deficiency, Abnormal lung loba...	ORPHA:672
Atelosteogenesis Type I	Joint dislocation, Short femur, Rhizomelia, Polyhydramnios, Malrotation of colon, Abnormal ossifi...	ORPHA:1190
Spondylometaphyseal Dysplasia With Cone-Rod Dystrophy	Short metacarpal, Rhizomelia, Ovoid vertebral bodies, Joint stiffness, Postnatal growth retardati...	OMIM:608940
Spondyloepimetaphyseal Dysplasia, X-Linked, With Hypomyelinating Leukodystrophy	Short neck, Metaphyseal widening, Flexion contracture, Coxa vara, Metaphyseal cupping of metacarp...	OMIM:300232
Progressive Pseudorheumatoid Arthropathy Of Childhood	Irregularity of vertebral bodies, Enlarged epiphyses, Wrist swelling, Coxa vara, Abnormal shoulde...	ORPHA:1159
Microcephalic Primordial Dwarfism, Toriello Type	Recurrent respiratory infections, Severe short stature, Microcephaly, Delayed skeletal maturation...	ORPHA:2643
Chromosome 1Q41-Q42 Deletion Syndrome	Tented upper lip vermilion, Deep philtrum, Vertebral segmentation defect, High palate, Short phil...	OMIM:612530
Marden-Walker Syndrome	Short neck, High, narrow palate, Abnormal sternum morphology, Zollinger-Ellison syndrome, High pa...	OMIM:248700
Chromosome 16P13.3 Duplication Syndrome	Tented upper lip vermilion, Proximal placement of thumb, Short neck, Microdontia, Bifid uvula, An...	OMIM:613458
Alagille Syndrome 1	Long nose, Multiple small medullary renal cysts, Hemivertebrae, Vesicoureteral reflux, Hypoplasia...	OMIM:118450
Dyssegmental Dysplasia, Silverman-Handmaker Type	Short neck, Bowing of the legs, Flexion contracture, Hydrops fetalis, Narrow chest, Pterygium, An...	ORPHA:1865
Vacterl Association, X-Linked, With Or Without Hydrocephalus	Short humerus, Sacral dimple, Polyhydramnios, Proximal placement of thumb, Absent radius, Esophag...	OMIM:314390
Spondylometaphyseal Dysplasia, A4 Type	Severe short stature, Limitation of joint mobility, Coxa vara, Platyspondyly, Flared, irregular r...	ORPHA:168555
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia	11 pairs of ribs, Short stature, Rhizomelia, Metaphyseal cupping, Depressed nasal ridge, Metaphys...	OMIM:300863
Thanatophoric Dysplasia	Depressed nasal bridge, Polyhydramnios, Joint stiffness, Abnormal sacroiliac joint morphology, Ky...	ORPHA:2655
Epiphyseal Dysplasia, Multiple, 1	Epiphyseal dysplasia, Short metacarpal, Severe short stature, Ovoid vertebral bodies, Joint stiff...	OMIM:132400
Epiphyseal Dysplasia, Multiple, With Severe Proximal Femoral Dysplasia	Irregularity of vertebral bodies, Epiphyseal dysplasia, Flat distal femoral epiphysis, Short stat...	OMIM:609324
Renpenning Syndrome	Decreased testicular size, Severe short stature, Macrodontia, Hypospadias, Prominent nose, Pectus...	ORPHA:3242
Intellectual Developmental Disorder, X-Linked, Syndromic, Siderius Type	Long toe, Arachnodactyly, Microcephaly, Broad nasal tip, Cleft lip, Cleft palate, Thoracic kyphosis	OMIM:300263
Holoprosencephaly	Hypoplasia of penis, Short neck, Abnormality of the spleen, Deep philtrum, Depressed nasal ridge,...	ORPHA:2162
Spondyloepiphyseal Dysplasia-Brachydactyly-Speech Disorder Syndrome	Abnormal metatarsal morphology, Short neck, Rhizo-meso-acromelic limb shortening, Enlarged thorax...	ORPHA:163654
Hall-Riggs Syndrome	Metaphyseal dysplasia, Brachydactyly, Anteverted nares, Depressed nasal bridge, Prominent nose, M...	OMIM:234250
Crouzon Syndrome	Choanal atresia, Abnormal sacrum morphology, Narrow palate, Multiple suture craniosynostosis, Con...	ORPHA:207
Acromicric Dysplasia	Short palm, Short metacarpal, Severe short stature, Anteverted nares, Ovoid vertebral bodies, Joi...	ORPHA:969
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Microdeletion	Polyhydramnios, Flexion contracture, Wrist flexion contracture, Joint laxity, Long toe, Exaggerat...	ORPHA:254528
Spondyloepimetaphyseal Dysplasia, Irapa Type	Metaphyseal dysplasia, Short metacarpal, Lumbar hyperlordosis, Hypoplastic sacrum, Enlargement of...	OMIM:271650
Lethal Congenital Contracture Syndrome 10	Thoracic scoliosis, Stiff neck, Overlapping fingers, Short neck, Fetal akinesia sequence, Adducte...	OMIM:617022
Mosaic Trisomy 8	Short neck, Vertebral segmentation defect, High palate, Narrow chest, Clinodactyly of the 5th fin...	ORPHA:96061
Short-Rib Thoracic Dysplasia 20 With Polydactyly	Short neck, Lateral clavicle hook, Preaxial polydactyly, Long thorax, Absent nasal bridge, Narrow...	OMIM:617925
Alagille Syndrome	Peripheral pulmonary artery stenosis, Hypoplasia of the ulna, Hepatomegaly, Long nose, Cryptorchi...	ORPHA:52
Sheldon-Hall Syndrome	Ulnar deviation of the wrist, Tarsal synostosis, Short stature, Short neck, Joint stiffness, Wide...	ORPHA:1147
Pallister-Hall-Like Syndrome	Occipital encephalocele, Median cleft lip, Depressed nasal bridge, Short stature, Toe syndactyly,...	OMIM:241800
Spondylo-Megaepiphyseal-Metaphyseal Dysplasia	Back pain, Enlarged epiphyses, Proximal placement of thumb, Short neck, Flexion contracture, Coxa...	OMIM:613330
Intellectual Disability-Polydactyly-Uncombable Hair Syndrome	Narrow nasal bridge, Broad hallux phalanx, Hypoplasia of penis, Toe syndactyly, Short stature, Sh...	ORPHA:3082
Kbg Syndrome	Tented upper lip vermilion, Short neck, Epispadias, Widely-spaced maxillary central incisors, Oli...	OMIM:148050
Fibrochondrogenesis 2	Anteverted nares, Hypoplastic ischia, Metaphyseal cupping, Cupped ribs, Metaphyseal widening, Hyp...	OMIM:614524
Craniodiaphyseal Dysplasia	Depressed nasal bridge, Short stature, Abnormal rib morphology, Wide nasal bridge, Diaphyseal thi...	ORPHA:1513
Koolen-De Vries Syndrome	High palate, Widely spaced teeth, Vesicoureteral reflux, Prominent fingertip pads, Vertebral fusi...	OMIM:610443
Coffin-Siris Syndrome 1	Conical tooth, Ectopic kidney, Partial agenesis of the corpus callosum, Prominent interphalangeal...	OMIM:135900
Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly	Short lingual frenulum, Hydrops fetalis, Renal cyst, Fused teeth, Thoracic dysplasia, Narrow ches...	OMIM:614091
Microcephaly-Micromelia Syndrome	Short neck, Simplified gyral pattern, Narrow chest, Neonatal death, Short tibia, Humeroradial syn...	OMIM:251230
Spondyloepiphyseal Dysplasia, Stanescu Type	Stiff neck, Short stature, Kyphoscoliosis, Joint stiffness, Hypoplastic ilia, Coxa valga, Vertebr...	OMIM:616583
Microphthalmia With Cyst, Bilateral Facial Clefts, And Limb Anomalies	Choanal atresia, Joint hypermobility, Cleft upper lip, Broad proximal phalanges of the hand, High...	OMIM:607597
Charge Syndrome	Polyhydramnios, Abnormal tibia morphology, Hemivertebrae, Gastroesophageal reflux, Abnormality of...	ORPHA:138
Grant Syndrome	Joint dislocation, Bowing of the long bones, Depressed nasal bridge, Short stature, Open bite, Ab...	ORPHA:2097
Spondyloepiphyseal Dysplasia Tarda	Back pain, Osteoarthritis of the distal interphalangeal joint, Abnormality of the tibial plateaux...	ORPHA:93284
Dyggve-Melchior-Clausen Disease	Glenoid fossa hypoplasia, Short neck, Coxa vara, Pectus carinatum, Broad ribs, Rhizomelia, Iliac ...	ORPHA:239
Phaver Syndrome	Broad hallux phalanx, Depressed nasal bridge, Camptodactyly of finger, Joint stiffness, Short thu...	ORPHA:2876
Cloacal Exstrophy	Hypoplasia of penis, Hydroureter, Intestinal malrotation, Spina bifida, Ectopic kidney, Myelomeni...	ORPHA:93929
Bamforth-Lazarus Syndrome	Bilateral choanal atresia, Polyhydramnios, Cleft palate	OMIM:241850
Mucopolysaccharidosis, Type Ivb	Epiphyseal deformities of tubular bones, Metaphyseal widening, Widely spaced teeth, Flaring of ri...	OMIM:253010
Bamforth-Lazarus Syndrome	Polyhydramnios, Choanal atresia, Cleft palate	ORPHA:1226
7Q11.23 Microduplication Syndrome	Short lingual frenulum, Short neck, Hemivertebrae, Simplified gyral pattern, Short philtrum, High...	ORPHA:96121
Feingold Syndrome	Hallux valgus, Brachydactyly, Toe syndactyly, Anteverted nares, Depressed nasal bridge, Short sta...	ORPHA:1305
Melnick-Needles Syndrome	Narrow chest, Vesicoureteral reflux, Anisospondyly, Short stature, Short thorax, Abnormal rib mor...	ORPHA:2484
Pfeiffer Syndrome Type 3	Finger syndactyly, Broad hallux phalanx, Toe syndactyly, Depressed nasal bridge, Intestinal malro...	ORPHA:93260
Branchial Arch Abnormalities, Choanal Atresia, Athelia, Hearing Loss, And Hypothyroidism Syndrome	Branchial cyst, Thoracic scoliosis, Polyhydramnios, Downturned corners of mouth, Choanal stenosis...	OMIM:620186
Camptodactyly Syndrome, Guadalajara Type 2	Short stature, Camptodactyly of finger, Microcephaly, Pectus excavatum, Short 3rd toe, Cuboid-sha...	ORPHA:1326
Short-Rib Thoracic Dysplasia 11 With Or Without Polydactyly	Recurrent respiratory infections, Polyhydramnios, Postaxial polydactyly, Lateral clavicle hook, C...	OMIM:615633
Congenital Amegakaryocytic Thrombocytopenia	Short stature, Abnormal hemoglobin, Short neck, Thrombocytopenia, Abnormal form of the vertebral ...	ORPHA:3319
Elsahy-Waters Syndrome	Bilateral cryptorchidism, Anteriorly placed anus, Cutaneous finger syndactyly, High palate, Bifid...	OMIM:211380
Arthrogryposis Multiplex Congenita 1, Neurogenic, With Myelin Defect	Decreased fetal movement, Scapular winging, Hip contracture, Internally rotated shoulders, Dental...	OMIM:617468
Osteogenesis Imperfecta, Type Ii	Crumpled long bones, Broad long bones, Premature birth, Nonimmune hydrops fetalis, Recurrent frac...	OMIM:166210
Laryngotracheoesophageal Cleft Type 4	Abnormality of the spleen, Abnormal mesentery morphology, Abnormal rib morphology, Tracheoesophag...	ORPHA:93941
Bronchogenic Cyst	Back pain, Abnormal peritoneum morphology, Pulmonary cyst, Pneumonia, Abnormal pleura morphology,...	ORPHA:2357
Craniofacioskeletal Syndrome	Barrel-shaped chest, Thin upper lip vermilion, Absent gallbladder, Hypospadias, Choanal atresia, ...	OMIM:300712
Mucopolysaccharidosis, Type X	Irregular acetabular roof, Spatulate ribs, Broad clavicles, Diastema, Open bite, Hyperlordosis, D...	OMIM:619698
Spondylometaphyseal Dysplasia, Kozlowski Type	Enlarged joints, Irregular, rachitic-like metaphyses, Short neck, Coxa vara, Pectus carinatum, Ha...	OMIM:184252
Microcephalic Osteodysplastic Dysplasia, Saul-Wilson Type	Narrow nasal bridge, Irregularity of vertebral bodies, Short stature, Convex nasal ridge, Microce...	ORPHA:85172
Intellectual Disability-Myopathy-Short Stature-Endocrine Defect Syndrome	Hypoplasia of penis, Short stature, Prominent nasal bridge, Hyperlordosis, Microcephaly, Delayed ...	ORPHA:3068
Autosomal Recessive Multiple Pterygium Syndrome	Hypoplasia of penis, Multiple pterygia, Orofacial cleft, Symphalangism affecting the phalanges of...	ORPHA:2990
X-Linked Female Restricted Facial Dysmorphism-Short Stature-Choanal Atresia-Intellectual Disability	Osteopenia, Congenital hip dislocation, Prominent nose, Abnormal periodontium morphology, High pa...	ORPHA:480880
Hatipoglu Immunodeficiency Syndrome	Pancytopenia, Hypospadias, Recurrent bronchitis, Proportionate short stature, Cryptorchidism, Hem...	OMIM:620331
Fibrochondrogenesis	Hypoplastic scapulae, Anteverted nares, Depressed nasal bridge, Camptodactyly of finger, Short ne...	ORPHA:2021
Blepharocheilodontic Syndrome 1	Choanal atresia, Cleft upper lip, Conical tooth, Cutaneous syndactyly, Neural tube defect, Hypodo...	OMIM:119580
Gm1-Gangliosidosis, Type I	Hepatomegaly, Thickened ribs, Cerebral degeneration, Severe short stature, Short neck, Joint stif...	OMIM:230500
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type	Short stature, Rhizomelia, Hypoplastic iliac wing, Metaphyseal chondrodysplasia, Abnormality of t...	ORPHA:163966
9Q21.13 Microdeletion Syndrome	Wide nasal ridge, Craniosynostosis, Postnatal growth retardation, Cryptorchidism, Abnormal tongue...	ORPHA:531151
Spondyloepimetaphyseal Dysplasia, Borochowitz-Cormier-Daire Type	Dysplastic iliac wing, Lumbar hyperlordosis, Ovoid vertebral bodies, Metaphyseal spurs, Bowing of...	OMIM:608728
Mucolipidosis Type Iii	Short stature, Hyperlordosis, Joint stiffness, Cleft palate, Reduced bone mineral density, Abnorm...	ORPHA:577
Mullerian Duct Aplasia, Unilateral Renal Agenesis, And Cervicothoracic Somite Anomalies	Short stature, Unilateral renal agenesis, Cleft upper lip, Ectopic kidney, Abnormal rib morpholog...	OMIM:601076
Even-Plus Syndrome	Epiphyseal dysplasia, Severe short stature, Short neck, Bifid nasal tip, Dysplastic corpus callos...	OMIM:616854
22Q11.2 Deletion Syndrome	Polyhydramnios, Short neck, Anorectal anomaly, Abnormal lung lobation, Short philtrum, Hypoplasia...	ORPHA:567
Cenani-Lenz Syndrome	High, narrow palate, Abnormal form of the vertebral bodies, Short philtrum, Foot oligodactyly, Sy...	ORPHA:3258
Multiple Synostoses Syndrome 2	Vertebral fusion, Wide nose, Tarsal synostosis, Humeroradial synostosis, Finger symphalangism, Pr...	OMIM:610017
Cleidocranial Dysplasia	High, narrow palate, Coxa vara, Glossoptosis, Narrow chest, Hypoplastic inferior ilia, Clinodacty...	ORPHA:1452
Spondyloepiphyseal Dysplasia-Craniosynostosis-Cleft Palate-Cataracts-Intellectual Disability Syndrome	Short neck, Oligosacchariduria, Downturned corners of mouth, High palate, Thoracic kyphosis, Narr...	ORPHA:163649
Epiphyseal Dysplasia, Multiple, 7	Epiphyseal dysplasia, Monkey wrench femoral neck, Advanced ossification of carpal bones, Flat ace...	OMIM:617719
Spondylometaphyseal Dysplasia With Corneal Dystrophy	Coarse metaphyseal trabecularization, Anteverted nares, Depressed nasal bridge, Increased interve...	OMIM:618961
Achondroplasia	Limited hip extension, Polyhydramnios, Bowing of the legs, Generalized joint laxity, Femoral bowi...	OMIM:100800
Roifman Syndrome	Delayed proximal femoral epiphyseal ossification, Downturned corners of mouth, Hippocampal atroph...	ORPHA:353298
Arrhinia-Choanal Atresia-Microphthalmia Syndrome	Aplasia/Hypoplasia involving the nose, Choanal atresia, Cleft palate, Abnormality of the sense of...	ORPHA:1135
Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart	Renal cyst, High palate, Gastroesophageal reflux, Vesicoureteral reflux, Clinodactyly of the 5th ...	OMIM:616975
Seckel Syndrome 5	11 pairs of ribs, Hypospadias, Selective tooth agenesis, Prominent nasal bridge, Abnormal cortica...	OMIM:613823
Mucopolysaccharidosis Type 6	Epiphyseal dysplasia, Ovoid vertebral bodies, Short neck, Joint stiffness, Kyphosis, Splenomegaly...	ORPHA:583
Orofaciodigital Syndrome Type 1	Reduced bone mineral density, Lobulated tongue, High palate, Clinodactyly of the 5th finger, Agen...	ORPHA:2750
Cartilage-Hair Hypoplasia	Short neck, Accelerated skeletal maturation, Metaphyseal chondrodysplasia, Depressed nasal ridge,...	ORPHA:175
Choanal Atresia And Lymphedema	Pericardial effusion, High palate, Choanal atresia, Lymphedema	OMIM:613611
Oeis Complex	11 pairs of ribs, Absence of the sacrum, Hydroureter, Congenital hip dislocation, Intestinal malr...	OMIM:258040
Multinucleated Neurons, Anhydramnios, Renal Dysplasia, Cerebellar Hypoplasia, And Hydranencephaly	Brachydactyly, Hydranencephaly, Anteverted nares, Narrow nasal ridge, Short neck, Bulbous nose, R...	OMIM:236500
Lujo Hemorrhagic Fever	Elevated hepatic transaminase, Lymphopenia, Renal insufficiency, Stiff neck, Facial edema, Perior...	ORPHA:319213
Ghosal Hematodiaphyseal Dysplasia	Bowing of the long bones, Splenomegaly, Abnormal tibia morphology, Abnormal femur morphology, Abn...	ORPHA:1802
Vertebral Hypersegmentation And Orofacial Anomalies	Scapular winging, Anteverted nares, Supernumerary nipple, Pectus excavatum, Submucous cleft hard ...	OMIM:619122
Trisomy 13	Median cleft lip, Abnormality of the dentition, High, narrow palate, Kyphosis, Cryptorchidism, Ab...	ORPHA:3378
Dyssegmental Dysplasia, Silverman-Handmaker Type	Occipital encephalocele, Bowing of the long bones, Severe short stature, Thoracic hypoplasia, Mic...	OMIM:224410
Otospondylomegaepiphyseal Dysplasia, Autosomal Dominant	Epiphyseal dysplasia, Enlarged epiphyses, Depressed nasal bridge, Anteverted nares, Pierre-Robin ...	OMIM:184840
Cornelia De Lange Syndrome	Hypoplasia of penis, Proximal placement of thumb, Short neck, Downturned corners of mouth, Widely...	ORPHA:199
Osteoarthritis With Mild Chondrodysplasia	Heberden's node, Short stature, Joint stiffness, Knee osteoarthritis, Schmorl's node, Irregular v...	OMIM:604864
Pseudoachondroplasia	Genu recurvatum, Limited hip extension, Spatulate ribs, Delayed epiphyseal ossification, Osteoart...	OMIM:177170
Peters-Plus Syndrome	Ureteral duplication, Short lingual frenulum, Bilobate gallbladder, Polyhydramnios, Short neck, L...	OMIM:261540
Pfeiffer Syndrome	Syndactyly, Finger syndactyly, Shortening of all middle phalanges of the fingers, Depressed nasal...	OMIM:101600
Larsen Syndrome	Cervical kyphosis, Short metatarsal, Pectus carinatum, Knee dislocation, Spina bifida occulta, Hy...	OMIM:150250
Methimazole Embryofetopathy	Hypospadias, Choanal atresia, Polyhydramnios, Esophageal atresia, Tracheoesophageal fistula, Intr...	ORPHA:1923
Vertebral Fusion, Posterior Lumbosacral, With Blepharoptosis	Posterior fusion of lumbosacral vertebrae	OMIM:192800
Spondylometaphyseal Dysplasia, Kozlowski Type	Short tubular bones of the hand, Increased intervertebral space, Delayed epiphyseal ossification,...	ORPHA:93314
Mosaic Trisomy 16	Abnormality of the gastrointestinal tract, Syndactyly, Hypospadias, Premature birth, Abnormality ...	ORPHA:1708
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 3	Joint laxity, Hypoplasia of the ulna, Short stature, Short neck, Tapered finger, Multiple joint d...	OMIM:618395
Short-Rib Thoracic Dysplasia 12	Polyhydramnios, Short neck, Edema, Bowing of the legs, Lobulated tongue, Thoracic dysplasia, Narr...	OMIM:269860
Cantu Syndrome	Short neck, Lymphedema, Metaphyseal widening, Narrow chest, Thick upper lip vermilion, Erlenmeyer...	OMIM:239850
Maxillonasal Dysplasia	Depressed nasal bridge, Aplasia/Hypoplasia of the distal phalanges of the toes, Open bite, Verteb...	ORPHA:1248
Osteogenesis Imperfecta, Type Xv	Schizencephaly, Short stature, Recurrent fractures, Thin ribs, Platyspondyly, Bowing of limbs due...	OMIM:615220
Posterior Fusion Of Lumbosacral Vertebrae-Blepharoptosis Syndrome	Sacral dimple, Tarsal synostosis, Joint stiffness, Abnormal form of the vertebral bodies, Posteri...	ORPHA:2064
Pfeiffer Syndrome Type 2	Finger syndactyly, Broad hallux phalanx, Toe syndactyly, Depressed nasal bridge, Intestinal malro...	ORPHA:93259
Lethal Congenital Contracture Syndrome 1	Edema, Abnormal thorax morphology, Abnormality of the amniotic fluid, Pulmonary hypoplasia, Neona...	OMIM:253310
Frontofacionasal Dysplasia	Encephalocele, Depressed nasal bridge, Choanal atresia, Short stature, Bifid nasal tip, Non-midli...	ORPHA:1791
Diamond-Blackfan Anemia 10	Macrocytic anemia, Short stature, Choanal atresia, Ectopic kidney, Reticulocytopenia, Cleft palat...	OMIM:613309
White Forelock With Malformations	Finger syndactyly, Deep philtrum, Delayed skeletal maturation, Abnormal rib morphology, Joint hyp...	ORPHA:2475
Combined Oxidative Phosphorylation Deficiency 33	Elevated hepatic transaminase, Hepatomegaly, Nephrotic syndrome, Intrauterine growth retardation,...	OMIM:617713
Tibial Hemimelia	Hemivertebrae, Aplasia of the 2nd metacarpal, Aplasia of the 4th metacarpal, Knee flexion contrac...	ORPHA:93322
Incontinentia Pigmenti	Delayed eruption of teeth, Short stature, Eosinophilia, Kyphoscoliosis, Conical tooth, Supernumer...	OMIM:308300
Ossification Anomalies-Psychomotor Developmental Delay Syndrome	Metaphyseal widening, Abnormal form of the vertebral bodies, Triangular shaped distal phalanges o...	ORPHA:73230
Kuskokwim Syndrome	Abnormal clavicle morphology, Aplasia/Hypoplasia of the patella, Joint stiffness, Abnormal form o...	ORPHA:1149
Tetraamelia-Multiple Malformations Syndrome	Abnormally ossified vertebrae, Aplasia/Hypoplasia involving the nose, Multicystic kidney dysplasi...	ORPHA:3301
Congenital Tufting Enteropathy	Villous atrophy, Abnormal small intestinal mucosa morphology, Choanal atresia, Elevated fecal osm...	ORPHA:92050
Cooper-Jabs Syndrome	Anteverted nares, Camptodactyly of finger, Short stature, Missing ribs, Proximal placement of thu...	ORPHA:1488
Mucopolysaccharidosis, Type Iiia	Hepatomegaly, Thickened ribs, Joint stiffness, Heparan sulfate excretion in urine, Splenomegaly, ...	OMIM:252900
Brachytelephalangic Chondrodysplasia Punctata	Cervical kyphosis, Depressed nasal ridge, Gastroesophageal reflux, Thick nasal alae, Hypoplastic ...	ORPHA:79345
Desbuquois Dysplasia 2	Dental crowding, Short neck, Metaphyseal widening, Pectus carinatum, Knee dislocation, Narrow che...	OMIM:615777
Congenital Myopathy 22B, Severe Fetal	Thoracic scoliosis, Tented upper lip vermilion, Dental crowding, Polyhydramnios, Short neck, Flex...	OMIM:620369
Muscular Dystrophy-Dystroglycanopathy (Congenital With Or Without Impaired Intellectual Development), Type B, 5	Vertebral fusion, Elbow contracture, Hyperlordosis, Microcephaly, Kyphosis, Achilles tendon contr...	OMIM:606612
Gm1 Gangliosidosis Type 1	Diffuse cerebral atrophy, Spatulate ribs, Diffuse white matter abnormalities, Hydrops fetalis, Pe...	ORPHA:79255
Atelosteogenesis, Type Iii	Cervical segmentation defect, Radial bowing, Depressed nasal bridge, Cervical kyphosis, Rhizomeli...	OMIM:108721
Cat-Eye Syndrome	Short stature, Abnormal rib morphology, Hip dysplasia, Intrauterine growth retardation, Hydroneph...	ORPHA:195
Hallermann-Streiff Syndrome	High, narrow palate, Reduced bone mineral density, Glossoptosis, Rib exostoses, Clinodactyly of t...	ORPHA:2108
Osteogenesis Imperfecta, Type Xix	Osteopenia, Severe short stature, Rhizomelia, Recurrent fractures, Bowing of the legs, Pectus exc...	OMIM:301014
Orofaciodigital Syndrome Xviii	Brachydactyly, Short stature, Prominent nasal bridge, Accessory oral frenulum, Urinary incontinen...	OMIM:617927
Faciodigitogenital Syndrome, Autosomal Recessive	Deep philtrum, High palate, Clinodactyly of the 5th finger, Vertebral fusion, Syndactyly, Antever...	OMIM:227330
Congenital Osteogenesis Imperfecta-Microcephaly-Cataracts Syndrome	Hypoplasia of penis, Recurrent fractures, Microcephaly, Cryptorchidism, Abnormal rib morphology, ...	ORPHA:2772
Autosomal Recessive Robinow Syndrome	Hypoplasia of penis, Tented upper lip vermilion, Short neck, Orofacial cleft, Pectus carinatum, D...	ORPHA:1507
Leukodystrophy, Hypomyelinating, 26, With Chondrodysplasia	Joint laxity, Short stature, Coxa valga, Elbow dislocation, Pierre-Robin sequence, Advanced ossif...	OMIM:620269
Antley-Bixler Syndrome Without Genital Anomalies Or Disordered Steroidogenesis	Depressed nasal bridge, Choanal atresia, Arachnodactyly, Rocker bottom foot, Ulnar bowing, Flexio...	OMIM:207410
Fanconi Anemia	Abnormal femur morphology, Reduced bone mineral density, Leukopenia, Abnormality of the liver, Hi...	ORPHA:84
Pelvis-Shoulder Dysplasia	Aplasia/Hypoplasia of the scapulae, Aplasia/Hypoplasia of the fibula, Prominent protruding coccyx...	ORPHA:2839
Lateral Meningocele Syndrome	Vertebral fusion, Neurogenic bladder, Dental crowding, Joint hypermobility, Short stature, Short ...	OMIM:130720
Aminopterin Syndrome Sine Aminopterin	Syndactyly, Thoracic scoliosis, Rudimentary postaxial polydactyly of hands, Short stature, Arachn...	OMIM:600325
Developmental And Epileptic Encephalopathy 85 With Or Without Midline Brain Defects	Dental crowding, Clinodactyly, Downturned corners of mouth, Widely spaced teeth, Short philtrum, ...	OMIM:301044
Thoracolaryngopelvic Dysplasia	Metaphyseal widening, Irregular chondrocostal junctions, Bell-shaped thorax, Irregular vertebral ...	OMIM:187760
Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency	Delayed eruption of teeth, Short stature, Microcephaly, Postnatal growth retardation, Delayed ske...	ORPHA:73272
Mucopolysaccharidosis, Type Iiic	Hepatomegaly, Thickened ribs, Kyphoscoliosis, Joint stiffness, Heparan sulfate excretion in urine...	OMIM:252930
Craniodiaphyseal Dysplasia, Autosomal Dominant	Thickened ribs, Depressed nasal bridge, Short stature, Cortical sclerosis, Craniofacial osteoscle...	OMIM:122860
Radio-Renal Syndrome	Multicystic kidney dysplasia, Severe short stature, Depressed nasal bridge, Short neck, High, nar...	ORPHA:3015
Maxillonasal Dysplasia, Binder Type	Depressed nasal bridge, Vertebral clefting, Dental malocclusion, Short columella, Patchy distorti...	OMIM:155050
Blomstrand Lethal Chondrodysplasia	Polyhydramnios, Accelerated skeletal maturation, Hydrops fetalis, Narrow chest, Neonatal short-li...	ORPHA:50945
Acyl-Coa Dehydrogenase, Medium-Chain, Deficiency Of	Elevated hepatic transaminase, Hepatomegaly, Hyperglycinuria, Medium chain dicarboxylic aciduria,...	OMIM:201450
Atelosteogenesis Type Ii	Cervical kyphosis, Polyhydramnios, Short neck, Narrow chest, Short phalanx of finger, Hypoplastic...	ORPHA:56304
Treacher-Collins Syndrome	Hypoplasia of penis, Glossoptosis, High palate, Hypoplasia of the thymus, Abnormality of bone min...	ORPHA:861
Codas Syndrome	Delayed eruption of teeth, Short metacarpal, Hydroureter, Abnormal dental morphology, Abnormal de...	ORPHA:1458
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly	Lateral clavicle hook, Hydrops fetalis, Pectus carinatum, Thoracic dysplasia, Narrow chest, Hepat...	OMIM:263520
Intellectual Developmental Disorder With Cardiac Defects And Dysmorphic Facies	Mesenteric cyst, Prominent nose, Short philtrum, Gastroesophageal reflux, Pulmonary artery atresi...	OMIM:618316
Hyperglycinemia, Lactic Acidosis, And Seizures	Microcephaly, Cerebral atrophy, Growth delay, Joint contracture, Cerebral edema	OMIM:614462
Hypochondroplasia	Bowing of the long bones, Brachydactyly, Hyperlordosis, Osteoarthritis, Abnormality of the elbow,...	ORPHA:429
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly	Lateral clavicle hook, Metaphyseal widening, Preaxial polydactyly, Femoral bowing, Micropenis, Ag...	OMIM:613091
Camptodactyly-Joint Contractures-Facial Skeletal Defects Syndrome	Finger syndactyly, Short stature, Camptodactyly of finger, Hyperlordosis, Joint stiffness, Narrow...	ORPHA:1323
Meckel Syndrome, Type 8	Encephalocele, Occipital encephalocele, Short neck, Cleft upper lip, Pericardial effusion, Microc...	OMIM:613885
Charge Syndrome	Decreased response to growth hormone stimulation test, Polyhydramnios, Hemivertebrae, Gonadotropi...	OMIM:214800
Bruck Syndrome 1	Joint laxity, Hip contracture, Short stature, Protrusio acetabuli, Ankle flexion contracture, Kyp...	OMIM:259450
Simpson-Golabi-Behmel Syndrome	Ureteral duplication, Hypoplasia of penis, Congenital hip dislocation, Polyhydramnios, Short neck...	ORPHA:373
Wolf-Hirschhorn Syndrome	Periventricular cysts, Orofacial cleft, Abnormal form of the vertebral bodies, Downturned corners...	OMIM:194190
Lethal Kniest-Like Dysplasia	Abnormal ischium morphology, Broad long bones, Anterior rib cupping, Polyhydramnios, Short neck, ...	ORPHA:2347
Three M Syndrome 3	Anteverted nares, Short stature, Short neck, Hyperlordosis, Increased vertebral height, Microceph...	OMIM:614205
Mucopolysaccharidosis, Type Vii	Spatulate ribs, Short neck, Accelerated skeletal maturation, Flexion contracture, Hydrops fetalis...	OMIM:253220
Phocomelia-Ectrodactyly, Ear Malformation, Deafness, And Sinus Arrhythmia	Aplasia/Hypoplasia of the thumb, Short humerus, Long clavicles, Short stature, Lateral clavicle h...	OMIM:171480
Microcephaly, Short Stature, And Impaired Glucose Metabolism 2	Short stature, Down-sloping shoulders, Kyphoscoliosis, Hyperlordosis, Pectus excavatum, Increased...	OMIM:616817
Hypophosphatasia, Infantile	Polyhydramnios, Bowing of the legs, Nephrocalcinosis, Unossified vertebral bodies, Increased susc...	OMIM:241500
Short-Rib Thoracic Dysplasia 17 With Or Without Polydactyly	Short stature, Lateral clavicle hook, Postaxial hand polydactyly, Postaxial foot polydactyly, Tri...	OMIM:617405
Silver-Russell Syndrome Due To A Point Mutation	Syndactyly, Hypospadias, Postnatal growth retardation, Cryptorchidism, Cleft palate, Short 5th fi...	ORPHA:397590
Bent Bone Dysplasia Syndrome 2	Osteopenia, Short neck, Femoral bowing, Hypoplastic iliac wing, Short tibia, Micropenis, Hepatome...	OMIM:620076
Diabetic Embryopathy	Ureteral duplication, Microcephaly, Cryptorchidism, Abnormal sacrum morphology, Abnormality of th...	ORPHA:1926
Seckel Syndrome 1	Dental crowding, Selective tooth agenesis, Abnormal finger flexion crease, Prominent nose, Large ...	OMIM:210600
Smith-Mccort Dysplasia 1	Short neck, Short phalanx of finger, Genu varum, Barrel-shaped chest, Short metacarpal, Short sta...	OMIM:607326
Opsismodysplasia	Polyhydramnios, Short neck, Edema, Hypoplastic vertebral bodies, Narrow chest, Short palm, Short ...	OMIM:258480
Chst3-Related Skeletal Dysplasia	Barrel-shaped chest, Delayed eruption of teeth, Short metacarpal, Enlarged joints, Rhizomelia, Ky...	ORPHA:263463
Short Stature And Facioauriculothoracic Malformations	Abnormal odontoid process morphology, Proportionate short stature, Cleft upper lip, Pectus excava...	OMIM:609654
Cerebrofacioarticular Syndrome	Osteopenia, Irregular dentition, Anal stenosis, Syndactyly, Hypospadias, Short stature, Lymphedem...	ORPHA:314679
Spondyloperipheral Dysplasia-Short Ulna Syndrome	Hypoplasia of the ulna, Broad hallux, Ovoid vertebral bodies, Abnormality of the vertebral endpla...	ORPHA:1856
Kilquist Syndrome	Intestinal malrotation, Choanal atresia, Coxa valga, Midgut malrotation, Xerostomia, 2-3 toe synd...	OMIM:619080
Mitochondrial Complex Iv Deficiency, Nuclear Type 22	3-hydroxydicarboxylic aciduria, Increased urine alpha-ketoglutarate concentration, Elevated hepat...	OMIM:619355
Fryns Syndrome	Ureteral duplication, Tented upper lip vermilion, Ectopic pancreatic tissue, Polyhydramnios, Shor...	OMIM:229850
Holt-Oram Syndrome	Abnormal clavicle morphology, Finger syndactyly, Down-sloping shoulders, Joint stiffness, Pectus ...	ORPHA:392
Caudal Duplication	Abnormal penis morphology, Ureteral duplication, Spina bifida, Cryptorchidism, Abnormal sacrum mo...	ORPHA:1756
Citrullinemia Type Ii	Elevated hepatic transaminase, Hepatomegaly, Enuresis, Hepatic fibrosis, Hepatocellular carcinoma...	ORPHA:247585
Kagami-Ogata Syndrome	Pursed lips, Anteverted nares, Thoracic hypoplasia, Kyphoscoliosis, Short neck, Depressed nasal b...	ORPHA:254519
Mandibulofacial Dysostosis, Guion-Almeida Type	Anteverted nares, Choanal atresia, Short stature, Microcephaly, Proximal placement of thumb, Esop...	OMIM:610536
Fanconi Anemia, Complementation Group B	Aplastic anemia, Short neck, Absent thumb, Esophageal atresia, Abnormal lung lobation, Tracheoeso...	OMIM:300514
Cole-Carpenter Syndrome	Delayed eruption of teeth, Crumpled long bones, Bowing of the long bones, Short stature, Abnormal...	ORPHA:2050
Spondyloepimetaphyseal Dysplasia, Shohat Type	Short neck, Delayed epiphyseal ossification, Coxa vara, Narrow greater sciatic notch, Genu varum,...	OMIM:602557
X-Linked Intellectual Disability-Global Development Delay-Facial Dysmorphism-Sacral Caudal Remnant Syndrome	Thin upper lip vermilion, Anteverted nares, Depressed nasal bridge, Broad nasal tip, Oral-pharyng...	ORPHA:480907
Fetal Alcohol Syndrome	Thin upper lip vermilion, Anteverted nares, Short stature, Microcephaly, Joint stiffness, Non-mid...	ORPHA:1915
Distal Deletion 10P	Hypoplasia of penis, Short stature, Short neck, Microcephaly, Cryptorchidism, Non-midline cleft l...	ORPHA:1580
Aicardi Syndrome	Partial agenesis of the corpus callosum, Short philtrum, Gastroesophageal reflux, Hepatoblastoma,...	ORPHA:50
Epiphyseal Dysplasia, Multiple, With Early-Onset Diabetes Mellitus	Ivory epiphyses of the phalanges of the hand, Irregular vertebral endplates, High palate, Barrel-...	OMIM:226980
Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome Due To 10P11.21P12.31 Microdeletion	Depressed nasal bridge, Choanal atresia, Celiac disease, Bulbous nose, Absent cupid's bow, Hypopl...	ORPHA:284169
Infantile-Onset X-Linked Spinal Muscular Atrophy	Hip contracture, Interphalangeal joint contracture of finger, Kyphoscoliosis, Ankle flexion contr...	ORPHA:1145
Dysosteosclerosis	Osteopenia, Sclerosis of hand bone, Increased intervertebral space, Hypoplastic vertebral bodies,...	OMIM:224300
Solitary Median Maxillary Central Incisor	Abnormal nasopharynx morphology, Midnasal stenosis, Choanal atresia, Decreased response to growth...	OMIM:147250
Spondyloepimetaphyseal Dysplasia, Missouri Type	Radial bowing, Rhizomelia, Irregular sclerotic endplates, Osteoarthritis, Delayed skeletal matura...	OMIM:602111
Dyggve-Melchior-Clausen Disease	Short neck, Metaphyseal widening, Flat glenoid fossa, Short metatarsal, Pectus carinatum, Femoral...	OMIM:223800
Mitochondrial Complex I Deficiency, Nuclear Type 20	Elevated hepatic transaminase, Dicarboxylic aciduria, Microvesicular hepatic steatosis, Thrombocy...	OMIM:611126
Orofaciodigital Syndrome Xi	Kyphoscoliosis, Postaxial polydactyly, Hypoplasia of the odontoid process, Bulbous nose, Wide nas...	OMIM:612913
Neu-Laxova Syndrome 1	Polyhydramnios, Short neck, Swollen lip, Fetal akinesia sequence, Calcaneovalgus deformity, Depre...	OMIM:256520
Fetal Akinesia Deformation Sequence	Intestinal hypoplasia, Multiple joint contractures, Depressed nasal bridge, Camptodactyly of fing...	ORPHA:994
Temple Syndrome Due To Maternal Uniparental Disomy Of Chromosome 14	Wide nose, Anteverted nares, Depressed nasal bridge, Premature birth, Short stature, Postnatal gr...	ORPHA:96184
Johnson Neuroectodermal Syndrome	Severe short stature, Choanal atresia, Microcephaly, Carious teeth, Preaxial hand polydactyly, Bu...	ORPHA:2316
X-Linked Intellectual Disability-Dysmorphism-Cerebral Atrophy Syndrome	Abnormal number of incisors, Prominent nose, Coxa valga, Cryptorchidism, Osteoporosis, Cerebral a...	ORPHA:2958
Mosaic Trisomy 1	Thoracic scoliosis, Polyhydramnios, Orofacial cleft, Renal cyst, Finger clinodactyly, Pulmonary a...	ORPHA:1692
Lymphangiectasia, Intestinal	Edema, Malabsorption, Pedal edema, Stillbirth, Intestinal lymphangiectasia, Lymphopenia, Prominen...	OMIM:152800
Lung Agenesis-Heart Defect-Thumb Anomalies Syndrome	Spina bifida, Proximal placement of thumb, Abnormal thumb morphology, Short thumb, Preaxial hand ...	ORPHA:1120
3Q29 Microdeletion Syndrome	Dental crowding, Prominent nasal bridge, Hypospadias, Abnormality of the dentition, Pectus excava...	ORPHA:65286
Thin Ribs-Tubular Bones-Dysmorphism Syndrome	Abnormal rib morphology, Slender long bone, Abnormal pelvic girdle bone morphology, Intrauterine ...	ORPHA:1506
Au-Kline Syndrome	Downturned corners of mouth, Oligodontia, Vertebral segmentation defect, High palate, Gastroesoph...	OMIM:616580
Arnold-Chiari Malformation Type I	Stiff neck, Urinary incontinence, Myelopathy, Fused cervical vertebrae, Scoliosis, Dysphagia, Cer...	ORPHA:268882
Hypogonadism, Male, With Mental Retardation And Skeletal Anomalies	Superior rib anomalies, Abnormality of the cervical spine	OMIM:307500
Beare-Stevenson Cutis Gyrata Syndrome	Natal tooth, Anteverted nares, Depressed nasal bridge, Choanal atresia, Prominent nasal bridge, H...	OMIM:123790
Lethal Congenital Contracture Syndrome 11	Decreased fetal movement, Polyhydramnios, Flexion contracture, Elbow flexion contracture, Distal ...	OMIM:617194
Osteogenesis Imperfecta, Type Xviii	Joint laxity, Bowing of the long bones, Recurrent fractures, Joint hypermobility, Abnormality of ...	OMIM:617952
Spondyloepiphyseal Dysplasia-Brachydactyly And Distinctive Speech	Short neck, Delayed epiphyseal ossification, Flexion contracture, Rhizo-meso-acromelic limb short...	OMIM:611717
Anauxetic Dysplasia 3	Femoral bowing, Oligodontia, Gastroesophageal reflux, Narrow chest, Trident hand, Short metacarpa...	OMIM:618853
Hydrops Fetalis, Nonimmune, With Gracile Bones And Dysmorphism	Anteverted nares, Nonimmune hydrops fetalis, Polyhydramnios, Hydrops fetalis, Upper limb undergro...	OMIM:613124
Chondrodysplasia With Joint Dislocations, Gpapp Type	Knee dislocation, Irregular epiphyses of the metacarpals, Short metacarpal, Hitchhiker thumb, Sho...	OMIM:614078
Crane-Heise Syndrome	Finger syndactyly, Abnormally ossified vertebrae, Hypoplastic scapulae, Anteverted nares, Depress...	ORPHA:1512
Shwachman-Diamond Syndrome 1	Metaphyseal chondrodysplasia, Metaphyseal widening, Proximal femoral metaphyseal irregularity, Co...	OMIM:260400
Hurler Syndrome	Abnormal clavicle morphology, Short neck, Abnormal vertebral morphology, Hepatomegaly, Anteverted...	ORPHA:93473
Radial Ray Hypoplasia With Choanal Atresia	Depressed nasal bridge, Choanal atresia, Short thumb, Hypoplasia of the radius, Choanal stenosis,...	OMIM:179270
Holoprosencephaly 13, X-Linked	Septo-optic dysplasia, Median cleft lip, Microcephaly, Submucous cleft hard palate, Vertebral cle...	OMIM:301043
Acrodysplasia Scoliosis	Vertebral segmentation defect, Spina bifida occulta, Scoliosis, Brachydactyly	ORPHA:2956
Coffin-Siris Syndrome 3	Joint laxity, Wide nose, Anteverted nares, Depressed nasal bridge, Short stature, Microcephaly, D...	OMIM:614608
Mucopolysaccharidosis, Type Iiib	Hepatomegaly, Thickened ribs, Joint stiffness, Heparan sulfate excretion in urine, Splenomegaly, ...	OMIM:252920
Diphallia	Abnormality of the gastrointestinal tract, Ureteral duplication, Rectoperineal fistula, Hypospadi...	ORPHA:227
Cornelia De Lange Syndrome 5	Proximal placement of thumb, Short neck, Downturned corners of mouth, High palate, Widely spaced ...	OMIM:300882
Osteomesopyknosis	Increased bone mineral density, Sclerotic vertebral body, Kyphosis, Abnormal form of the vertebra...	ORPHA:2777
Wild Type Abeta2M Amyloidosis	Gastrointestinal hemorrhage, Arthropathy, Abnormal intervertebral disk morphology, Intestinal pse...	ORPHA:85446
Cutis Gyrata-Acanthosis Nigricans-Craniosynostosis Syndrome	Anteverted nares, Depressed nasal bridge, Choanal atresia, Craniosynostosis, Cryptorchidism, Abno...	ORPHA:1555
Cantú Syndrome	Short neck, Accelerated skeletal maturation, Narrow chest, Broad ribs, Finger syndactyly, Broad h...	ORPHA:1517
Arthrogryposis, Distal, Type 3	Congenital hip dislocation, Short neck, Knee flexion contracture, Cutaneous finger syndactyly, Hi...	OMIM:114300
Steroid-Responsive Encephalopathy Associated With Autoimmune Thyroiditis	Leukocytosis, Cerebral edema, Anterior open-bite malocclusion, Abnormal cerebral white matter mor...	ORPHA:83601
Cog1-Cdg	Osteopenia, Irregularity of vertebral bodies, Short neck, Vertebral segmentation defect, High pal...	ORPHA:263508
Emanuel Syndrome	Congenital hip dislocation, Dental crowding, Multiple joint contractures, High palate, Gastroesop...	ORPHA:96170
Joubert Syndrome 18	Joint laxity, Occipital encephalocele, Trident pelvis, Bowing of the long bones, Kyphoscoliosis, ...	OMIM:614815
Otospondylomegaepiphyseal Dysplasia, Autosomal Recessive	Enlarged joints, Flexion contracture, Prominent interphalangeal joints, Aplasia/Hypoplasia of the...	OMIM:215150
Glycogen Storage Disease Iv	Decreased fetal movement, Polyhydramnios, Edema, Portal hypertension, Esophageal varix, Hydrops f...	OMIM:232500
Pierre Robin Sequence With Pectus Excavatum And Rib And Scapular Anomalies	Hypoplastic distal segments of scapulae, Pectus excavatum, Pierre-Robin sequence, Abnormal rib mo...	OMIM:602196
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 2	Dental crowding, Oral-pharyngeal dysphagia, Long nose, Oligodontia, Short palm, Hypospadias, Thic...	OMIM:619184
10Q22.3Q23.3 Microduplication Syndrome	Abnormal clavicle morphology, Abnormality of the philtrum, Hypospadias, Abnormality of the dentit...	ORPHA:276422
Split Cord Malformation	Back pain, Urinary incontinence, Functional abnormality of the bladder, Hemivertebrae, Abnormal t...	ORPHA:573278
Trisomy 20P	Short neck, Abnormal form of the vertebral bodies, Reduced bone mineral density, Downturned corne...	ORPHA:261318
Kagami-Ogata Syndrome	Hepatomegaly, Long clavicles, Anteverted nares, Depressed nasal bridge, Kyphoscoliosis, Polyhydra...	OMIM:608149
Kcnq2-Related Epileptic Encephalopathy	Abnormal globus pallidus morphology, Cerebral atrophy, Abnormal cerebral white matter morphology,...	ORPHA:439218
Mucopolysaccharidosis, Type Vi	Metaphyseal widening, Flexion contracture, Pectus carinatum, Hypoplastic iliac wing, Broad ribs, ...	OMIM:253200
Nijmegen Breakage Syndrome	Long nose, Deep philtrum, T lymphocytopenia, Short stature, Cleft upper lip, Bronchiectasis, 2-3 ...	OMIM:251260
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome	Decreased response to growth hormone stimulation test, Downturned corners of mouth, Glossoptosis,...	ORPHA:444077
Congenital Disorder Of Glycosylation, Type Iil	Inflammation of the large intestine, Hepatomegaly, Peau d'orange, Elevated hepatic transaminase, ...	OMIM:614576
Progressive Spondyloepimetaphyseal Dysplasia-Short Stature-Short Fourth Metatarsals-Intellectual Disability Syndrome	Osteopenia, Short fourth metatarsal, Tented upper lip vermilion, Short neck, Tibial metaphyseal i...	ORPHA:457395
Cerebrocostomandibular Syndrome	Congenital hip dislocation, Polyhydramnios, Ectopic kidney, Porencephalic cyst, Renal cyst, Anter...	OMIM:117650
Rhizomelic Chondrodysplasia Punctata, Type 1	Calcific stippling of infantile cartilaginous skeleton, Severe short stature, Depressed nasal bri...	OMIM:215100
Osteogenesis Imperfecta, Type V	Osteopenia, Hyperextensibility of the finger joints, Wormian bones, Short stature, Recurrent frac...	OMIM:610967
Congenital Disorder Of Glycosylation, Type Iiw	Microcytic anemia, Pectus carinatum, Gastroesophageal reflux, Narrow chest, Hepatic steatosis, He...	OMIM:619525
Cole-Carpenter Syndrome 2	Osteopenia, Wide cranial sutures, Short stature, Recurrent fractures, Pectus excavatum, Kyphosis,...	OMIM:616294
Ulbright-Hodes Syndrome	Short neck, Ovoid thoracolumbar vertebrae, High palate, Phocomelia, Abnormal penis morphology, Sh...	ORPHA:3404
Kniest Dysplasia	Enlarged joints, Short neck, Delayed epiphyseal ossification, Coxa vara, Tibial bowing, Genu varu...	OMIM:156550
Autosomal Recessive Kenny-Caffey Syndrome	Stenosis of the medullary cavity of the long bones, Microcephaly, Carious teeth, Thin clavicles, ...	ORPHA:93324
Frank-Ter Haar Syndrome	Delayed eruption of teeth, Beaking of vertebral bodies, Depressed nasal bridge, Genu recurvatum, ...	ORPHA:137834
Hypocalcemic Vitamin D-Resistant Rickets	Joint dislocation, Hyperparathyroidism, Coarse metaphyseal trabecularization, Short stature, Oste...	ORPHA:93160
Triploidy	Finger syndactyly, Hypoplasia of penis, Hepatomegaly, Hypospadias, Intestinal malrotation, Polyhy...	ORPHA:3376
Gillessen-Kaesbach-Nishimura Syndrome	Thickened nuchal skin fold, Polyhydramnios, Underdeveloped nasal alae, Short neck, Microcephaly, ...	OMIM:263210
Congenital Hemidysplasia With Ichthyosiform Erythroderma And Limb Defects	2-5 finger syndactyly, Congenital hip dislocation, Absent middle phalanx of 3rd finger, Flexion c...	OMIM:308050
Fryns Syndrome	Tented upper lip vermilion, Polyhydramnios, Short neck, High palate, Narrow chest, Gastroesophage...	ORPHA:2059
Myotonia With Skeletal Abnormalities And Mental Retardation	Short stature, Kyphoscoliosis, Irregular femoral epiphysis, Vertebral wedging, Genu valgum, Bell-...	OMIM:255710
Alopecia-Contractures-Dwarfism-Intellectual Disability Syndrome	Finger syndactyly, Brachydactyly, Severe short stature, Abnormal dental enamel morphology, Promin...	ORPHA:1005
Hypophosphatasia	Bowing of the long bones, Short stature, Recurrent fractures, Craniosynostosis, Abnormality of th...	ORPHA:436
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly	Prominent nose, Preaxial polydactyly, Renal cyst, Lobulated tongue, Narrow greater sciatic notch,...	OMIM:616300
Mucopolysaccharidosis Type 7	Recurrent respiratory infections, Anterior beaking of lower thoracic vertebrae, Abnormal pleura m...	ORPHA:584
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome	Hyperextensibility of the finger joints, Short philtrum, Micropenis, Long toe, Absent gallbladder...	ORPHA:163979
Neurodevelopmental Disorder With Spasticity, Hypomyelinating Leukodystrophy, And Brain Abnormalities	Unilateral wrist flexion contracture, Overlapping fingers, Femoral retroversion, Fetal pyelectasi...	OMIM:616531
Rhizomelic Skeletal Dysplasia With Or Without Pelger-Huet Anomaly	Joint dislocation, Knee flexion contracture, Femoral bowing, Short 5th metacarpal, Radial bowing,...	OMIM:618019
Otospondylomegaepiphyseal Dysplasia	Enlarged joints, Polyhydramnios, Short neck, Osteoarthritis, Abnormal iliac wing morphology, Tibi...	ORPHA:1427
Glioblastoma	Abnormal cerebral white matter morphology, Cerebral edema, Abnormal corpus callosum morphology	ORPHA:360
Scarf Syndrome	Craniosynostosis, Short neck, Cryptorchidism, Wide nasal base, Hepatocellular adenoma, Abnormal f...	ORPHA:3134
Osteogenesis Imperfecta, Type X	Osteopenia, Thoracic scoliosis, Generalized joint laxity, Tibial bowing, Narrow chest, Broad ribs...	OMIM:613848
Temple Syndrome	Decreased testicular size, Wide nose, Anteverted nares, Depressed nasal bridge, Premature birth, ...	OMIM:616222
Larsen Syndrome	Finger syndactyly, Brachydactyly, Depressed nasal bridge, Short stature, Large joint dislocations...	ORPHA:503
Encephalopathy, Acute, Infection-Induced, Susceptibility To, 3	Pneumonia, Cerebral edema	OMIM:608033
Acyl-Coa Dehydrogenase 9 Deficiency	Acute hepatic failure, Elevated hepatic transaminase, Dicarboxylic aciduria, Thrombocytopenia, He...	ORPHA:99901
Ulnar Hemimelia	Glenoid fossa hypoplasia, Limited elbow movement, Osteoarthritis, Abnormal calcification of the c...	ORPHA:93320
Myhre Syndrome	Short neck, Short philtrum, Hypoplastic iliac wing, Broad ribs, Vertebral fusion, Short stature, ...	OMIM:139210
Chopra-Amiel-Gordon Syndrome	Thin upper lip vermilion, Short stature, Joint hypermobility, Unilateral renal agenesis, Microcep...	OMIM:619504
Spondyloepiphyseal Dysplasia Congenita	Limited elbow movement, Short neck, Coxa vara, Pectus carinatum, Delayed calcaneal ossification, ...	OMIM:183900
Multiple Pterygium-Malignant Hyperthermia Syndrome	Polyhydramnios, Amniotic constriction ring, Downturned corners of mouth, Advanced eruption of tee...	ORPHA:2215
Congenital Hypotonia, Epilepsy, Developmental Delay, And Digital Anomalies	High, narrow palate, Anteriorly placed anus, Gastroesophageal reflux, Prominent fingertip pads, C...	OMIM:618494
Osteogenesis Imperfecta, Type Xvi	Osteopenia, Multiple rib fractures, Angulated humerus, Bowing of the long bones, Short stature, R...	OMIM:616229
Wieacker-Wolff Syndrome, Female-Restricted	Urinary incontinence, Polyhydramnios, Short neck, Fetal akinesia sequence, Flexion contracture, D...	OMIM:301041
Becker Nevus Syndrome	Supernumerary nipple, Pectus excavatum, Kyphosis, Abnormal tibia morphology, Rib fusion, Pectus c...	ORPHA:64755
Marcus-Gunn Syndrome	Choanal atresia, Postnatal growth retardation, Cleft lip, Nephrolithiasis, Cleft palate, Abnormal...	ORPHA:91412
Angiostrongyliasis	Gastrointestinal eosinophilia, Stiff neck, Hypereosinophilia, Cerebral edema	ORPHA:74
Rajab Interstitial Lung Disease With Brain Calcifications 1	Osteopenia, Cerebral calcification, Reduced bone mineral density, High palate, Gastroesophageal r...	OMIM:613658
Nphp3-Related Meckel-Like Syndrome	Multicystic kidney dysplasia, Intestinal malrotation, Polyhydramnios, Abnormality of the pancreas...	ORPHA:3032
Maple Syrup Urine Disease	Increased level of hippuric acid in urine, Pancreatitis, Cerebral edema	OMIM:248600
Trisomy 1Q	Wide nose, Multicystic kidney dysplasia, Depressed nasal bridge, Camptodactyly of finger, Polyhyd...	ORPHA:261344
Craniometadiaphyseal Dysplasia	Osteopenia, Natal tooth, Wormian bones, Dental crowding, Short stature, Broad long bones, Megalen...	OMIM:269300
Distal Monosomy 7Q36	Hypoplasia of penis, Short stature, Short neck, Pectus excavatum, Cryptorchidism, Non-midline cle...	ORPHA:1636
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 3	Abnormal nasopharynx morphology, Absence of Stensen duct, Selective tooth agenesis, Decreased res...	OMIM:604292
Placental Insufficiency	Abnormal umbilical cord blood vessel morphology, Proportionate short stature, Abnormal lung morph...	ORPHA:439167
Faundes-Banka Syndrome	Thin upper lip vermilion, Fetal ascites, Underdeveloped nasal alae, Cryptorchidism, Bulbous nose,...	OMIM:619376
Osteogenesis Imperfecta, Type Iii	Recurrent fractures, Protrusio acetabuli, Severe generalized osteoporosis, Multiple prenatal frac...	OMIM:259420
Mucopolysaccharidosis Type 1	Joint dislocation, Abnormal form of the vertebral bodies, Enlarged thorax, Widely spaced teeth, M...	ORPHA:579
Japanese Encephalitis	Neutrophilia, Abnormal substantia nigra morphology, Genu recurvatum, Stiff neck, Elbow flexion co...	ORPHA:79139
Van Den Ende-Gupta Syndrome	Glenoid fossa hypoplasia, Dental crowding, Lateral clavicle hook, High, narrow palate, 2-3 toe cu...	OMIM:600920
Stickler Syndrome, Type I	Arthropathy, Osteoarthritis, Bifid uvula, Anteverted nares, Depressed nasal bridge, Arachnodactyl...	OMIM:108300
Dyskeratosis Congenita	Cerebral calcification, Abnormality of neutrophils, Anorectal anomaly, Periodontitis, Intrauterin...	ORPHA:1775
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome	Osteopenia, Gastrointestinal dysmotility, Downturned corners of mouth, Oligodontia, Vertebral seg...	ORPHA:453499
Microgastria-Limb Reduction Defect Syndrome	Abnormality of the spleen, Abnormal lung lobation, Abnormal finger morphology, Gastroesophageal r...	ORPHA:2538
Familial Osteodysplasia, Anderson Type	Recurrent fractures, Aplastic clavicle, Missing ribs, Carious teeth, Kyphosis, Prominent nose, Lo...	ORPHA:2769
Crouzon Syndrome With Acanthosis Nigricans	Choanal atresia, Craniosynostosis	OMIM:612247
Kaposiform Lymphangiomatosis	Abnormal lung morphology, Abnormal femur morphology, Abnormal form of the vertebral bodies, Abnor...	ORPHA:464329
Coffin-Siris Syndrome 6	Depressed nasal bridge, Short stature, Kyphoscoliosis, Broad nasal tip, Pectus excavatum, High, n...	OMIM:617808
Short Rib-Polydactyly Syndrome, Verma-Naumoff Type	Hypoplasia of penis, Hydrops fetalis, Renal cyst, Narrow chest, Absent or minimally ossified vert...	ORPHA:93271
Spondyloepiphyseal Dysplasia Tarda, X-Linked	Barrel-shaped chest, Back pain, Lumbar hyperlordosis, Short neck, Postnatal growth retardation, K...	OMIM:313400
Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 1	Cerebral white matter atrophy, Myelopathy, Leukoencephalopathy, Cervical myelopathy, Cerebral edema	OMIM:617186
Diarrhea 3, Secretory Sodium, Congenital, With Or Without Other Congenital Anomalies	Ureteral duplication, Choanal atresia, Intestinal malrotation, Polyhydramnios, Cleft palate, Rect...	OMIM:270420
Intellectual Developmental Disorder, Autosomal Dominant 6, With Or Without Seizures	Cryptorchidism, Choanal atresia, Microcephaly	OMIM:613970
Syndromic Multisystem Autoimmune Disease Due To Itch Deficiency	Acute hepatic failure, Pancytopenia, Choanal atresia, Cholangitis, Portal hypertension, Hypersple...	ORPHA:228426
Spondyloepiphyseal Dysplasia Congenita	Back pain, Limited elbow movement, Short neck, Reduced bone mineral density, Glossoptosis, Barrel...	ORPHA:94068
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate	Hypospadias, Selective tooth agenesis, Supernumerary nipple, Cleft upper lip, Conical tooth, Wide...	OMIM:106260
Anauxetic Dysplasia 1	Short neck, Thoracic kyphosis, Short palm, Microdontia, Barrel-shaped chest, Joint laxity, Lumbar...	OMIM:607095
Spondyloperipheral Dysplasia	Short distal phalanx of the 4th finger, Short neck, Short metatarsal, Pectus carinatum, Irregular...	OMIM:271700
Spondyloepiphyseal Dysplasia Tarda, Autosomal Dominant	Barrel-shaped chest, Lumbar hyperlordosis, Kyphoscoliosis, Short neck, Avascular necrosis of the ...	OMIM:184100
Hardikar Syndrome	Intrahepatic bile duct cysts, Cholangitis, Premature rupture of membranes, Hepatic fibrosis, Vesi...	OMIM:301068
Stuve-Wiedemann Syndrome 1	Enlarged joints, Short neck, Knee flexion contracture, Femoral bowing, Tibial bowing, Smooth tong...	OMIM:601559
Mirror Polydactyly-Vertebral Segmentation-Limbs Defects Syndrome	Aplasia of the thymus, Short stature, Split hand, Vertebral segmentation defect, Foot polydactyly...	ORPHA:3004
Spondylometaepiphyseal Dysplasia, Short Limb-Hand Type	Short neck, Bowing of the legs, Depressed nasal ridge, Pectus carinatum, Knee flexion contracture...	OMIM:271665
Coffin-Lowry Syndrome	Abnormal form of the vertebral bodies, Pectus carinatum, High palate, Widely spaced teeth, Advanc...	ORPHA:192
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease	Hepatomegaly, Renal insufficiency, Hepatic cysts, Portal hypertension, Absence of renal corticome...	OMIM:263200
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome	Osteopenia, Multiple joint contractures, Metaphyseal widening, Multiple joint dislocation, Pectus...	ORPHA:536467
Arthrogryposis, Cleft Palate, Craniosynostosis, And Impaired Intellectual Development	Short stature, Nonimmune hydrops fetalis, Craniosynostosis, Cleft palate, Thin ribs, Slender long...	OMIM:618265
Xylt1-Cdg	Joint dislocation, Joint laxity, Hepatomegaly, Short stature, Microcephaly, Accelerated skeletal ...	ORPHA:370930
Schneckenbecken Dysplasia	Hypoplastic scapulae, Increased fibular diameter, Polyhydramnios, Short neck, Lateral clavicle ho...	ORPHA:3144
Severe Congenital Nemaline Myopathy	Decreased fetal movement, Hypospadias, Premature birth, Polyhydramnios, Edema of the dorsum of ha...	ORPHA:171430
Spondyloepimetaphyseal Dysplasia, Shohat Type	Short neck, Bowing of the legs, Delayed epiphyseal ossification, Metaphyseal widening, Abnormal v...	ORPHA:93352
Myhre Syndrome	Epispadias, Short palm, Large iliac wing, Bifid uvula, Abnormal penis morphology, Hypospadias, Cr...	ORPHA:2588
Mohr Syndrome	Porencephalic cyst, Lobulated tongue, High palate, Short palm, Clinodactyly of the 5th finger, Sy...	OMIM:252100
Rhizomelic Dysplasia, Patterson-Lowry Type	Short humerus, Wide nose, Short metacarpal, Rhizomelia, Hyperlordosis, Depressed nasal ridge, Abn...	ORPHA:2831
Schwartz-Jampel Syndrome	Polyhydramnios, Short neck, Coxa vara, Pectus carinatum, High palate, Wrist flexion contracture, ...	ORPHA:800
Richieri Costa-Da Silva Syndrome	Joint dislocation, Short stature, Kyphoscoliosis, Abnormality of the dentition, Short neck, Metat...	ORPHA:3101
Cryptococcosis	Lymphoid leukemia, Osteomyelitis, Pneumonia, Nodular pattern on pulmonary HRCT, Mediastinal lymph...	ORPHA:1546
Leri Pleonosteosis	Severe short stature, Genu recurvatum, Camptodactyly of finger, Joint stiffness, Elbow dislocatio...	ORPHA:2900
Isolated Osteopoikilosis	Syndactyly, Abnormally ossified vertebrae, Increased bone mineral density, Abnormal pelvis bone m...	ORPHA:166119
Hypertelorism, Microtia, Facial Clefting Syndrome	Cleft upper lip, Broad nasal tip, Ectopic kidney, Microcephaly, 2-3 toe syndactyly, Cleft palate,...	OMIM:239800
Mucopolysaccharidosis, Type Iiid	Thoracic scoliosis, Thickened ribs, Short neck, Ovoid thoracolumbar vertebrae, Hypoplastic verteb...	OMIM:252940
Acute Disseminated Encephalomyelitis	Viral hepatitis, Hypointensity of cerebral white matter on MRI, Diffuse white matter abnormalitie...	ORPHA:83597
Eec Syndrome	Aplasia/Hypoplasia of the thumb, Decreased response to growth hormone stimulation test, Proximal ...	ORPHA:1896
Coach Syndrome 1	Encephalocele, Occipital encephalocele, Hepatomegaly, Elevated hepatic transaminase, Anteverted n...	OMIM:216360
Galloway-Mowat Syndrome 7	Diffuse mesangial sclerosis, Hallux valgus, Proteinuria, Short stature, Kyphoscoliosis, Minimal c...	OMIM:618348
Kyphomelic Dysplasia	Lateral clavicle hook, Femoral bowing, Tibial bowing, Pterygium, Short metacarpal, Radial bowing,...	OMIM:211350
Amoebiasis Due To Free-Living Amoebae	Abnormality of taste sensation, Stiff neck, Pneumonia, Respiratory tract infection, Abnormal basa...	ORPHA:68
Myotubular Myopathy With Abnormal Genital Development	Decreased fetal movement, Hypospadias, Unilateral cryptorchidism, Polyhydramnios, Bilateral crypt...	OMIM:300219
Verloove Vanhorick-Brubakk Syndrome	Finger syndactyly, Tarsal synostosis, Cryptorchidism, Non-midline cleft lip, Abnormality of the p...	ORPHA:3429
Acrocapitofemoral Dysplasia	Short proximal phalanx of thumb, Coxa vara, Pectus carinatum, Narrow chest, Short palm, Hypoplast...	OMIM:607778
Omodysplasia 2	Tented upper lip vermilion, Gastroesophageal reflux, Limited elbow flexion, Clinodactyly of the 5...	OMIM:164745
Mitochondrial Complex I Deficiency, Nuclear Type 1	3-hydroxydicarboxylic aciduria, Hepatomegaly, Hypospadias, Microcephaly, Splenomegaly, Lacticacid...	OMIM:252010
Braddock-Carey Syndrome 1	Multicystic kidney dysplasia, Anteverted nares, Hyperlordosis, Microcephaly, Clinodactyly, Pierre...	OMIM:619980
Fountain Syndrome	Metaphyseal dysplasia, Brachydactyly, Coarse metaphyseal trabecularization, Short stature, Spina ...	ORPHA:3219
Multiple Synostoses Syndrome 1	Hypoplastic spinal processes, Symphalangism affecting the phalanges of the hand, Hypoplastic nasa...	OMIM:186500
Sialidosis Type 1	Urinary excretion of sialylated oligosaccharides, Short stature, Kyphosis, Increased urinary O-li...	ORPHA:812
Antley-Bixler Syndrome With Genital Anomalies And Disordered Steroidogenesis	Hemivertebrae, Femoral bowing, Anteriorly placed anus, Choanal stenosis, Micropenis, Caesarian se...	OMIM:201750
Fucosidosis	Anterior beaking of thoracic vertebrae, Vacuolated lymphocytes, Flexion contracture, Oligosacchar...	OMIM:230000
2Q31.1 Microdeletion Syndrome	Short neck, Deep philtrum, Abnormal tibia morphology, Downturned corners of mouth, Vertebral segm...	ORPHA:251014
Tarp Syndrome	Extramedullary hematopoiesis, Glossoptosis, Finger syndactyly, Anteverted nares, Cryptorchidism, ...	ORPHA:2886
Encephalopathy, Acute, Infection-Induced, Susceptibility To, 4	Cerebral edema	OMIM:614212
Herpes Simplex Virus Encephalitis	Leukocytosis, Neutrophilia, Cerebral edema	ORPHA:1930
Weismann-Netter Syndrome	Bowing of the long bones, Severe short stature, Abnormal morphology of ulna, Abnormality of the h...	ORPHA:3344
Trisomy 17P	Hypoplasia of penis, Short neck, Prominent nose, Flexion contracture, Orofacial cleft, High palat...	ORPHA:261290
Otopalatodigital Syndrome, Type I	Abnormality of the fifth metatarsal bone, Selective tooth agenesis, Femoral bowing, Broad distal ...	OMIM:311300
Short-Rib Thoracic Dysplasia 8 With Or Without Polydactyly	Syndactyly, Depressed nasal bridge, Pancreatic fibrosis, Polyhydramnios, Short stature, Lateral c...	OMIM:615503
Short-Rib Thoracic Dysplasia 14 With Polydactyly	Depressed nasal bridge, Accessory oral frenulum, Hamartoma of tongue, Aplastic clavicle, Short ne...	OMIM:616546
Emanuel Syndrome	Congenital hip dislocation, Dental crowding, High palate, Gastroesophageal reflux, Micropenis, Jo...	OMIM:609029
Cerebroretinal Microangiopathy With Calcifications And Cysts 2	Gastrointestinal hemorrhage, Osteopenia, Pancytopenia, Portal hypertension, Esophageal varix, Gro...	OMIM:617341
Solitary Bone Cyst	Back pain, Abnormal tibia morphology, Bone pain, Abnormal pubic bone morphology, Abnormal form of...	ORPHA:83468
Lacrimoauriculodentodigital Syndrome	Xerostomia, Orofacial cleft, Vesicoureteral reflux, Microdontia, Abnormal salivary gland morpholo...	ORPHA:2363
Geroderma Osteodysplastica	Severe short stature, Recurrent fractures, Vertebral compression fracture, Osteoporosis, Abnormal...	ORPHA:2078
Kenny-Caffey Syndrome, Type 1	Long clavicles, Delayed closure of the anterior fontanelle, Proportionate short stature, Carious ...	OMIM:244460
Intellectual Disability, Buenos-Aires Type	Abnormal dental morphology, Short stature, Microcephaly, Open bite, Dental malocclusion, Wide nas...	ORPHA:3079
Trisomy 8Q	Hypoplasia of penis, Camptodactyly of finger, Short neck, Joint stiffness, Cryptorchidism, Non-mi...	ORPHA:1752
Acromesomelic Dysplasia 4	Thoracic scoliosis, Accelerated skeletal maturation, Short metatarsal, Short phalanx of finger, G...	OMIM:619636
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly	Lateral clavicle hook, Early ossification of capital femoral epiphyses, Renal cyst, Thoracic dysp...	OMIM:208500
Metaphyseal Dysostosis, Impaired Intellectual Development, And Conductive Deafness	Metaphyseal widening, Flat glenoid fossa, Coxa vara, Short palm, Genu varum, Joint laxity, Lumbar...	OMIM:250420
Jacobsen Syndrome	Short neck, Abnormal form of the vertebral bodies, Pachygyria, Agenesis of corpus callosum, Broad...	ORPHA:2308
Aarskog-Scott Syndrome	Hyperextensibility of the finger joints, Short neck, Bilateral cryptorchidism, Clinodactyly, Shor...	OMIM:305400
Meckel Syndrome, Type 1	Occipital encephalocele, Short neck, Asplenia, Lobulated tongue, Agenesis of corpus callosum, Acc...	OMIM:249000
Pentalogy Of Cantrell	Encephalocele, Absent gallbladder, Hypospadias, Non-midline cleft lip, Abnormal tibia morphology,...	ORPHA:1335
Osteogenesis Imperfecta	Osteopenia, Abnormality of dental color, Cervical kyphosis, Convex nasal ridge, Osteoarthritis, F...	ORPHA:666
Cervical Ribs, Sprengel Anomaly, Anal Atresia, And Urethral Obstruction	Thoracolumbar scoliosis, Autoimmune thrombocytopenia, Preaxial hand polydactyly, Renal hypoplasia...	OMIM:601389
Bilateral Perisylvian Polymicrogyria	Ectopic posterior pituitary, Choanal atresia, Protruding tongue, Pectus excavatum, Microcephaly, ...	ORPHA:98889
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 5	Vertebral fusion, Hyperlordosis, Exercise-induced myoglobinuria, Kyphosis, Achilles tendon contra...	OMIM:607155
Tonne-Kalscheuer Syndrome	Decreased testicular size, Hypospadias, Prominent nasal bridge, Short stature, Prominent nose, Mi...	OMIM:300978
Mucolipidosis Ii Alpha/Beta	Osteopenia, Metaphyseal widening, Progressive alveolar ridge hypertropy, Hepatomegaly, Anteverted...	OMIM:252500
Ichthyosis Follicularis-Alopecia-Photophobia Syndrome	Subcortical cerebral atrophy, Agenesis of corpus callosum, Abnormal vertebral morphology, Abnorma...	ORPHA:2273
Gaucher Disease, Perinatal Lethal	Polyhydramnios, Neonatal death, Hepatomegaly, Anteverted nares, Depressed nasal bridge, Premature...	OMIM:608013
Monosomy 18P	Short stature, Kyphoscoliosis, Short neck, Pectus excavatum, Carious teeth, Lymphedema, Microceph...	ORPHA:1598
Hyperparathyroidism, Transient Neonatal	Osteopenia, Hyperparathyroidism, Polyhydramnios, Femoral bowing, Gastroesophageal reflux, Narrow ...	OMIM:618188
Czeizel-Losonci Syndrome	Thickened nuchal skin fold, Hitchhiker thumb, Thoracolumbar scoliosis, Spina bifida, Myelomeningo...	ORPHA:2437
Short-Rib Thoracic Dysplasia 18 With Polydactyly	Thin upper lip vermilion, Radial bowing, Intestinal malrotation, Postaxial polydactyly, Missing r...	OMIM:617866
Acrodysostosis	Accelerated skeletal maturation, Depressed nasal ridge, Short metatarsal, Abnormal form of the ve...	ORPHA:950
Simpson-Golabi-Behmel Syndrome, Type 1	Polyhydramnios, Accelerated skeletal maturation, Abnormal lung lobation, Renal cyst, Pectus carin...	OMIM:312870
Gm1-Gangliosidosis, Type Ii	Hepatomegaly, Premature birth, Protruding tongue, Joint stiffness, Splenomegaly, Coxa valga, Ging...	OMIM:230600
Alg3-Cdg	Abnormality of the gastrointestinal tract, Osteopenia, Cerebral white matter atrophy, Abnormality...	ORPHA:79321
Osteopathia Striata With Cranial Sclerosis	Dental crowding, Polyhydramnios, Partial agenesis of the corpus callosum, Craniofacial osteoscler...	OMIM:300373
Hurler Syndrome	Short neck, Metaphyseal widening, Flexion contracture, Microdontia, Hepatomegaly, Anteverted nare...	OMIM:607014
Autosomal Recessive Stickler Syndrome	Epiphyseal dysplasia, Short stature, Cleft palate, Genu valgum, Irregular vertebral endplates, Pl...	ORPHA:250984
17Q12 Microduplication Syndrome	Finger syndactyly, Toe syndactyly, Polyhydramnios, Cortical dysplasia, Tracheoesophageal fistula,...	ORPHA:261272
Oculoauriculofrontonasal Syndrome	Encephalocele, Pericallosal lipoma, Wide nose, Underdeveloped nasal alae, Bifid nasal tip, Cleft ...	ORPHA:398156
Ethylene Glycol Poisoning	Renal insufficiency, Gastritis, Renal tubular epithelial necrosis, Renal tubular dysfunction, Hem...	ORPHA:31826
Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 2	Abnormal cerebral white matter morphology, Pancytopenia, Cerebral edema, Cerebral atrophy	OMIM:618321
Spondylodysplastic Ehlers-Danlos Syndrome	Osteopenia, Joint dislocation, Multiple joint contractures, Lymphedema, Generalized joint laxity,...	ORPHA:536471
Wolf-Hirschhorn Syndrome	Hypoplastic pubic ramus, Abnormal form of the vertebral bodies, Downturned corners of mouth, Shor...	ORPHA:280
Acrofacial Dysostosis, Palagonia Type	Finger syndactyly, Short stature, Short neck, High, narrow palate, Supernumerary tooth, Bulbous n...	ORPHA:1787
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 1, With Or Without Fractures	Short neck, Delayed proximal femoral epiphyseal ossification, Flexion contracture, Metaphyseal wi...	OMIM:271640
Familial Acute Necrotizing Encephalopathy	Abnormal putamen morphology, Cerebral edema	ORPHA:88619
Acrofacial Dysostosis, Rodríguez Type	Finger syndactyly, Prominent nasal bridge, Hand oligodactyly, Abnormal form of the vertebral bodi...	ORPHA:1788
Campomelic Dysplasia	Irregular dentition, Thoracic scoliosis, Cervical kyphosis, Polyhydramnios, Anterior tibial bowin...	OMIM:114290
Renal Tubular Dysgenesis	Premature birth, Polyhydramnios, Microcephaly, Joint hyperflexibility, Proximal tubulopathy, Mult...	ORPHA:3033
Dural Sinus Malformation	Myelopathy, Hypoplasia of the frontal lobes, Cerebral edema	ORPHA:97339
X-Linked Myotubular Myopathy-Abnormal Genitalia Syndrome	Joint hypermobility, Polyhydramnios, Cryptorchidism, Glandular hypospadias, Thin ribs, High palat...	ORPHA:456328
Diaphragmatic Defect-Limb Deficiency-Skull Defect Syndrome	Finger syndactyly, Abnormal scapula morphology, Aplasia/Hypoplasia of the fibula, Aplasia/hypopla...	ORPHA:2141
Occipital Horn Syndrome	Persistent open anterior fontanelle, Pectus carinatum, High palate, Narrow chest, Broad ribs, Joi...	OMIM:304150
Arthrogryposis, Distal, Type 5D	Tongue atrophy, Congenital hip dislocation, Anteverted nares, Short stature, Limited elbow moveme...	OMIM:615065
Stickler Syndrome Type 1	Osteoarthritis, Cleft palate, Joint hyperflexibility, Platyspondyly, Abnormal epiphysis morpholog...	ORPHA:90653
Scarf Syndrome	Barrel-shaped chest, Thickened nuchal skin fold, Prominent nasal bridge, Short neck, Cryptorchidi...	OMIM:312830
Hepatoportal Sclerosis	Gastrointestinal hemorrhage, Elevated hepatic transaminase, Portal hypertension, Nodular regenera...	ORPHA:64743
X-Linked Hypophosphatemia	Beaded ribs, Bowing of the legs, Generalized osteosclerosis, Bone pain, Trapezoidal distal femora...	ORPHA:89936
Retinitis Pigmentosa 89	Postaxial polydactyly, Micronodular cirrhosis, Esophageal varix, Hepatosplenomegaly, Hepatic fibr...	OMIM:618955
Generalized Arterial Calcification Of Infancy	Cerebral calcification, Polyhydramnios, Edema, Hydrops fetalis, Nephrocalcinosis, Abnormal calcif...	ORPHA:51608
Congenital Myopathy 1B, Autosomal Recessive	Joint laxity, Decreased fetal movement, Recurrent respiratory infections, Polyhydramnios, Hydrops...	OMIM:255320
Genitopalatocardiac Syndrome	Multicystic kidney dysplasia, Hypospadias, Microcephaly, Kyphosis, Non-midline cleft lip, Cryptor...	ORPHA:2075
Cerebrocostomandibular Syndrome	Multicystic kidney dysplasia, Cerebral calcification, Short stature, Spina bifida, Microcephaly, ...	ORPHA:1393
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly	Polyhydramnios, Short neck, Lymphedema, Protein-losing enteropathy, High palate, Narrow chest, Mi...	OMIM:235255
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly	Syndactyly, Depressed nasal bridge, Thoracic hypoplasia, Postaxial polydactyly, Lateral clavicle ...	OMIM:617895
Smith-Magenis Syndrome	Tented upper lip vermilion, Abnormal form of the vertebral bodies, Short philtrum, Gastroesophage...	ORPHA:819
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 1	Abnormal nasopharynx morphology, Absence of Stensen duct, Selective tooth agenesis, Decreased res...	OMIM:129900
Carbamoyl Phosphate Synthetase I Deficiency, Hyperammonemia Due To	Cerebral edema	OMIM:237300
Tetraamelia Syndrome 1	Choanal atresia, Cleft upper lip, Asplenia, Single naris, Peripheral pulmonary vessel aplasia, Cl...	OMIM:273395
Spondyloepimetaphyseal Dysplasia, Sponastrime Type	Osteopenia, Metaphyseal widening, Coxa vara, Thoracic kyphosis, Neutropenia, Lumbar interpedicula...	OMIM:271510
Microcephaly-Cardiac Defect-Lung Malsegmentation Syndrome	Underdeveloped nasal alae, Short neck, High, narrow palate, Microcephaly, Joint stiffness, Abnorm...	ORPHA:2516
Oculofaciocardiodental Syndrome	Oligodontia, Fused teeth, Clinodactyly of the 5th finger, Short thumb, 2-3 toe syndactyly, Flexio...	ORPHA:2712
Craniometadiaphyseal Dysplasia, Wormian Bone Type	Osteopenia, Increased bone mineral density, Short tubular bones of the hand, Coxa valga, Vertebra...	ORPHA:85184
Craniofacial Microsomia 1	Occipital encephalocele, Multicystic kidney dysplasia, Block vertebrae, Cleft upper lip, Ectopic ...	OMIM:164210
49,Xxxxy Syndrome	Hypoplasia of penis, Short neck, Depressed nasal ridge, Gastroesophageal reflux, Clinodactyly of ...	ORPHA:96264
Multiple Epiphyseal Dysplasia Type 4	Cervical kyphosis, Accelerated skeletal maturation, Metaphyseal widening, Flexion contracture, Sh...	ORPHA:93307
Spondylometaphyseal Dysplasia, Sedaghatian Type	Short neck, Delayed epiphyseal ossification, Porencephalic cyst, Long fibula, Narrow chest, Narro...	OMIM:250220
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins	Polyhydramnios, Asplenia, Abnormal lung lobation, Posterior rib fusion, Neonatal death, Hypospadi...	OMIM:265380
Schimke Immuno-Osseous Dysplasia	Short neck, Neutropenia, Microdontia, Nephropathy, Nephrotic range proteinuria, Lumbar hyperlordo...	ORPHA:1830
Cousin Syndrome	Short neck, Prominent protruding coccyx, Hypoplastic iliac wing, Clinodactyly of the 5th finger, ...	OMIM:260660
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Hypermethylation	Polyhydramnios, Postnatal growth retardation, Large placenta, Coat hanger sign of ribs, Umbilical...	ORPHA:254534
Lethal Congenital Contracture Syndrome 9	Thoracic kyphoscoliosis, Thin upper lip vermilion, Decreased fetal movement, Depressed nasal brid...	OMIM:616503
Spondylometaphyseal Dysplasia, Sedaghatian Type	Short metacarpal, Abnormal scapula morphology, Iliac crest serration, Accelerated skeletal matura...	ORPHA:93317
Craniofrontonasal Syndrome	Short neck, Sprengel anomaly, Clinodactyly of the 5th finger, Agenesis of corpus callosum, Joint ...	OMIM:304110
Microphthalmia, Syndromic 12	Intestinal malrotation, Broad nasal tip, Cryptorchidism, Wide nasal bridge, Cleft palate, Pulmona...	OMIM:615524
Familial Or Sporadic Hemiplegic Migraine	Tongue fasciculations, Cerebral edema	ORPHA:569
Osteogenesis Imperfecta, Type Vii	Osteopenia, Bowing of the legs, Multiple prenatal fractures, Coxa vara, Narrow chest, Short statu...	OMIM:610682
Classic Homocystinuria	Gastrointestinal hemorrhage, Hepatomegaly, Elevated hepatic transaminase, Dental crowding, Recurr...	ORPHA:394
Trichohepatoenteric Syndrome 1	Villous atrophy, Polyhydramnios, Depressed nasal ridge, Hepatic fibrosis, Bifid uvula, Hepatomega...	OMIM:222470
Portal Hypertension, Noncirrhotic, 2	Elevated hepatic transaminase, Hepatomegaly, Epistaxis, Portal hypertension, Nodular regenerative...	OMIM:619463
Migraine, Familial Hemiplegic, 2	Cerebral edema	OMIM:602481
Osteopathia Striata-Cranial Sclerosis Syndrome	Delayed eruption of teeth, Increased bone mineral density, Cerebral calcification, Severe short s...	ORPHA:2780
Mirage Syndrome	Overlapping fingers, Hypospadias, Short stature, Rocker bottom foot, Cryptorchidism, Esophageal s...	OMIM:617053
Maternal Uniparental Disomy Of Chromosome 2	Renal insufficiency, Hypospadias, Decreased response to growth hormone stimulation test, Prematur...	ORPHA:96179
Skeletal Defects, Genital Hypoplasia, And Impaired Intellectual Development	Hypoplasia of the ulna, Short femur, Short stature, Microcephaly, Absent thumb, Cryptorchidism, D...	OMIM:612447
Cleidocranial Dysplasia 1	Persistent open anterior fontanelle, Short middle phalanx of the 2nd finger, High, narrow palate,...	OMIM:119600
Spondyloepimetaphyseal Dysplasia, Missouri Type	Knee osteoarthritis, Disproportionate short stature, Flared metaphysis, Flattened epiphysis, Femo...	ORPHA:93356
Intermediate Osteopetrosis	Back pain, Sandwich appearance of vertebral bodies, Osteomyelitis, Abnormal dental morphology, Re...	ORPHA:210110
Deafness-Epiphyseal Dysplasia-Short Stature Syndrome	Short stature, Hyperlordosis, Short neck, Short thorax, Abnormal form of the vertebral bodies, Ab...	ORPHA:3218
Distal Duplication 17Q	Pectus carinatum, High palate, Short philtrum, Vesicoureteral reflux, Accessory spleen, Joint lax...	ORPHA:3379
Gm1 Gangliosidosis	Depressed nasal ridge, Hydrops fetalis, Abnormal form of the vertebral bodies, Encephalomalacia, ...	ORPHA:354
Acromesomelic Dysplasia 1	Short metatarsal, Short phalanx of finger, Broad metacarpals, Long hallux, Joint laxity, Short me...	OMIM:602875
Systemic Sclerosis	Flexion contracture, Intestinal bleeding, Gastroesophageal reflux, Abnormal small intestine morph...	ORPHA:90291
Schimke Immunoosseous Dysplasia	Osteopenia, Short neck, Bilateral cryptorchidism, Abnormal T cell morphology, Thoracic kyphosis, ...	OMIM:242900
Osteogenesis Imperfecta, Type Viii	Osteopenia, Multiple prenatal fractures, Femoral bowing, Tibial bowing, Decreased skull ossificat...	OMIM:610915
Cranioectodermal Dysplasia 2	Cholangitis, Polyhydramnios, Short neck, Hydrops fetalis, Renal cyst, Fused teeth, High palate, N...	OMIM:613610
Ellis-Van Creveld Syndrome	Epispadias, Pectus carinatum, Narrow chest, Hypoplastic iliac wing, Neonatal short-limb short sta...	OMIM:225500
3P25.3 Microdeletion Syndrome	Cerebral white matter atrophy, Proximal placement of thumb, Prominent nose, High, narrow palate, ...	ORPHA:435638
Campomelic Dysplasia	Short neck, Femoral bowing, Tibial bowing, Narrow chest, Hypoplastic inferior ilia, Poorly ossifi...	ORPHA:140
Coffin-Siris Syndrome 11	Prominent metopic ridge, Depressed nasal bridge, Cleft soft palate, Esophageal atresia, Bulbous n...	OMIM:618779
Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency	Elevated hepatic transaminase, Hepatomegaly, Nonimmune hydrops fetalis, Polyhydramnios, Fetal aki...	ORPHA:367
Shprintzen-Goldberg Craniosynostosis Syndrome	Osteopenia, Genu recurvatum, Lateral clavicle hook, Metaphyseal widening, Pectus carinatum, High ...	OMIM:182212
Spondylometaphyseal Dysplasia, Algerian Type	Metaphyseal dysplasia, Lumbar hyperlordosis, Severe short stature, Anterior rib cupping, Kyphosco...	OMIM:184253
Acro-Renal-Ocular Syndrome	Vertebral segmentation defect, Triphalangeal thumb, Vesicoureteral reflux, Vertebral fusion, Hypo...	ORPHA:959
Adams-Oliver Syndrome 6	Syndactyly, Portal hypertension, Splenomegaly, Esophageal varix, Renal hypoplasia, Foot oligodact...	OMIM:616589
Duane Retraction Syndrome	Aplasia/Hypoplasia of the thumb, Anteverted nares, Short neck, Ectopic kidney, Microcephaly, Abse...	ORPHA:233
Reversible Cerebral Vasoconstriction Syndrome	Ischemic stroke, Cerebral edema, Leukoencephalopathy	ORPHA:284388
Tarp Syndrome	Glossoptosis, Premature rupture of membranes, High palate, Neonatal death, Anteverted nares, Wide...	OMIM:311900
Robinow Syndrome, Autosomal Dominant 2	Dental crowding, Clinodactyly, Oligodontia, Micropenis, Calvarial osteosclerosis, Anteverted nare...	OMIM:616331
Adams-Oliver Syndrome	Gastrointestinal hemorrhage, Encephalocele, Periventricular leukomalacia, Finger syndactyly, Prem...	ORPHA:974
Fanconi Anemia, Complementation Group L	Hypoplastic sacrum, Unilateral renal agenesis, Short neck, Absent thumb, Esophageal atresia, Abse...	OMIM:614083
Monosomy 9Q22.3	Delayed eruption of teeth, Odontogenic keratocysts of the jaw, Ovarian fibroma, Short neck, Pectu...	ORPHA:77301
Opitz Gbbb Syndrome	Vertebral segmentation defect, High palate, Vesicoureteral reflux, Agenesis of corpus callosum, R...	ORPHA:2745
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation	Osteopenia, Intestinal pseudo-obstruction, High, narrow palate, Gastrointestinal dysmotility, Dow...	ORPHA:453504
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion	Osteopenia, Intestinal pseudo-obstruction, High, narrow palate, Gastrointestinal dysmotility, Dow...	ORPHA:352665
Microphthalmia With Limb Anomalies	Deep philtrum, 2-3 toe cutaneous syndactyly, Tibial bowing, Camptodactyly of 2nd-5th fingers, Hig...	OMIM:206920
Diamond-Blackfan Anemia 1	Short neck, Depressed nasal ridge, Reticulocytopenia, Hypoplastic coccygeal vertebrae, High palat...	OMIM:105650
Pyknoachondrogenesis	Abnormal intramembranous ossification, Palpebral edema, Hypoplastic ischia, Short iliac bones, Sh...	ORPHA:3003
Cholesteryl Ester Storage Disease	Acute hepatic failure, Bone-marrow foam cells, Leukopenia, Hepatic fibrosis, Hepatic steatosis, H...	OMIM:278000
Isolated Posterior Meningocele	Occipital meningocele, Lipomyelomeningocele, Meningocele, Enuresis, Neural tube defect, Hydromyel...	ORPHA:268810
Cholesteryl Ester Storage Disease	Hepatomegaly, Splenomegaly, Jaundice, Esophageal varix, Cirrhosis, Hepatic failure	ORPHA:75234
Schinzel-Giedion Midface Retraction Syndrome	Abnormal nasopharynx morphology, Increased density of long bones, Short neck, Tibial bowing, Hypo...	OMIM:269150
Microcephaly, Short Stature, And Polymicrogyria With Or Without Seizures	Short stature, Microcephaly, Dysplastic corpus callosum, Flexion contracture, Thin ribs, Lissence...	OMIM:614833
Townes-Brocks Syndrome 1	Short metatarsal, Gastroesophageal reflux, Triphalangeal thumb, Vesicoureteral reflux, 2-4 finger...	OMIM:107480
Musculocontractural Ehlers-Danlos Syndrome	Cervical kyphosis, Generalized joint laxity, Functional abnormality of the bladder, Abnormal ster...	ORPHA:2953
Kapur-Toriello Syndrome	Overlapping fingers, Intestinal malrotation, Camptodactyly of finger, Short neck, Cleft upper lip...	OMIM:244300
Supernumerary Nostril	Supernumerary naris, Choanal atresia	ORPHA:141096
Intellectual Developmental Disorder, X-Linked, Syndromic, Snyder-Robinson Type	Hyperextensibility of the finger joints, Dental crowding, Short neck, High, narrow palate, Pectus...	OMIM:309583
Basel-Vanagaite-Smirin-Yosef Syndrome	Tented upper lip vermilion, Anteverted nares, Hypospadias, Microcephaly, Kyphosis, Recurrent pneu...	OMIM:616449
Distal Deletion 10Q	Prominent nose, 2-3 toe cutaneous syndactyly, Functional abnormality of the bladder, Short metata...	ORPHA:96148
Van Esch-O'Driscoll Syndrome	Sacral dimple, Depressed nasal bridge, Short stature, Microcephaly, Esophageal atresia, Pulmonary...	OMIM:301030
Hallermann-Streiff Syndrome	Selective tooth agenesis, High, narrow palate, Metaphyseal widening, High palate, Spina bifida, H...	OMIM:234100
Renal Agenesis, Bilateral	Fetal polyuria, Non-midline cleft lip, Abnormal sacrum morphology, Depressed nasal ridge, Tracheo...	ORPHA:1848
Marden-Walker Syndrome	Epispadias, Abnormal form of the vertebral bodies, Pectus carinatum, Agenesis of corpus callosum,...	ORPHA:2461
Distal Triplication 15Q	Arachnodactyly, Craniosynostosis, Kyphosis, Flexion contracture, Horseshoe kidney, Hydrocele test...	ORPHA:314588
Argininosuccinic Aciduria	Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Aminoaciduria, Hepat...	OMIM:207900
Autosomal Recessive Polycystic Kidney Disease	Cholangitis, Biliary hyperplasia, Depressed nasal ridge, Abnormal intrahepatic bile duct morpholo...	ORPHA:731
Miller-Dieker Lissencephaly Syndrome	Polyhydramnios, Clinodactyly of the 5th finger, Cavum septum pellucidum, Pachygyria, Pelvic kidne...	OMIM:247200
Citrullinemia, Classic	Hepatomegaly, Oroticaciduria, Cirrhosis, Cerebral edema	OMIM:215700
Homocystinuria Due To Cystathionine Beta-Synthase Deficiency	Hepatic steatosis, Dental crowding, Arachnodactyly, Kyphoscoliosis, Pectus excavatum, Methioninur...	OMIM:236200
Mycetoma	Back pain, Abnormality of the knee, Osteomyelitis, Abnormal thorax morphology, Osteoporosis, Abno...	ORPHA:2583
Craniolenticulosutural Dysplasia	Osteopenia, High palate, Narrow chest, Gastroesophageal reflux, Bifid uvula, Joint laxity, Anteve...	OMIM:607812
Waardenburg Syndrome, Type 1	Spina bifida, Underdeveloped nasal alae, Myelomeningocele, Wide nasal bridge, Orofacial cleft, Su...	OMIM:193500
Schinzel-Giedion Syndrome	Abnormal clavicle morphology, Short neck, Abnormality of the gingiva, Renal cyst, Tibial bowing, ...	ORPHA:798
Cardiospondylocarpofacial Syndrome	Brachydactyly, Severe short stature, High, narrow palate, Abnormal form of the vertebral bodies, ...	ORPHA:3238
Acrofacial Dysostosis, Cincinnati Type	Short stature, Choanal atresia, Microcephaly, Cleft palate, Femoral bowing, Flared lower limb met...	OMIM:616462
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia	Hypoplastic pubic ramus, Proximal placement of thumb, Short neck, Short metatarsal, Patellar hypo...	OMIM:609945
Neu-Laxova Syndrome	Osteopenia, Cerebral calcification, Polyhydramnios, Flexion contracture, Depressed nasal ridge, P...	ORPHA:2671
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome	Bowing of the legs, Coxa vara, Narrow greater sciatic notch, Short phalanx of finger, Short metac...	ORPHA:85167
Mosaic Variegated Aneuploidy Syndrome 1	Short neck, Hypodysplasia of the corpus callosum, Renal cyst, Micropenis, Agenesis of corpus call...	OMIM:257300
Dyssegmental Dysplasia, Rolland-Desbuquois Type	Encephalocele, Bowing of the long bones, Severe short stature, Broad long bones, Short neck, Meta...	OMIM:224400
Congenital Myopathy 17	Tented upper lip vermilion, Overlapping toe, Polyhydramnios, Fetal akinesia sequence, Pectus exca...	OMIM:618975
Craniolenticulosutural Dysplasia	Delayed eruption of teeth, Wide nose, Short stature, Prominent nasal bridge, Carious teeth, Poste...	ORPHA:50814
Spondyloenchondrodysplasia With Immune Dysregulation	Cerebral calcification, Increased intervertebral space, Metaphyseal widening, Irregular vertebral...	OMIM:607944
Acrocephalopolydactylous Dysplasia	Hypoplastic colon, Hepatomegaly, Pancreatic fibrosis, Craniosynostosis, Short neck, Postaxial han...	OMIM:200995
3Mc Syndrome 2	Hypospadias, Prominent nasal bridge, Limited elbow movement, Cleft upper lip, Joint hypermobility...	OMIM:265050
Camptodactyly Syndrome, Guadalajara Type 3	Osteopenia, Short neck, Broad nasal tip, Thickened cortex of long bones, Delayed skeletal maturat...	ORPHA:488434
Basel-Vanagaite-Smirin-Yosef Syndrome	Tented upper lip vermilion, High, narrow palate, Pectus carinatum, Short philtrum, Male urethral ...	ORPHA:464738
Tetrasomy 5P	Pericallosal lipoma, Recurrent respiratory infections, Anteverted nares, Overlapping toe, Short h...	ORPHA:3309
Distal Deletion 6P	Wide nose, Anteverted nares, Depressed nasal bridge, Abnormality of the dentition, Underdeveloped...	ORPHA:96125
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 2	Osteopenia, Joint laxity, Epiphyseal dysplasia, Bowing of the long bones, Short stature, Kyphosco...	OMIM:615349
Nail-Patella Syndrome	Back pain, Glenoid fossa hypoplasia, Patellar hypoplasia, Thickening of the lateral border of the...	OMIM:161200
Oculodentodigital Dysplasia	Abnormal clavicle morphology, Cerebral calcification, Clinodactyly, Abnormal form of the vertebra...	ORPHA:2710
Teebi-Shaltout Syndrome	High, narrow palate, Pectus carinatum, Oligodontia, Prominent palatine ridges, Caudal appendage, ...	OMIM:272950
Distal Deletion 12Q	Short neck, Ectopic kidney, High, narrow palate, Biliary atresia, Aplasia/Hypoplasia of the middl...	ORPHA:96149
Marshall Syndrome	Knee osteoarthritis, Meningeal calcification, Clinodactyly of the 5th finger, Small proximal tibi...	OMIM:154780
Mannosidosis, Alpha B, Lysosomal	Hepatomegaly, Corpus callosum atrophy, Increased vertebral height, Splenomegaly, Vacuolated lymph...	OMIM:248500
Hajdu-Cheney Syndrome	Osteopenia, Short neck, Bone pain, Pectus carinatum, Downturned corners of mouth, Periodontitis, ...	ORPHA:955
Epidermolysis Bullosa Dystrophica, Autosomal Recessive	Spontaneous esophageal perforation, Oral mucosal blisters, Esophageal stricture, Flexion contract...	OMIM:226600
Dextrocardia	Congenital hip dislocation, Intestinal malrotation, Abnormality of the spleen, Abnormal rib morph...	ORPHA:1666
Short-Rib Thoracic Dysplasia 15 With Polydactyly	Hepatomegaly, Median cleft lip, Depressed nasal bridge, Short stature, Accessory oral frenulum, P...	OMIM:617088
Jung Syndrome	Recurrent respiratory infections, Depressed nasal bridge, Microcephaly, Wide nasal bridge, Abnorm...	ORPHA:2321
Infantile Liver Failure Syndrome 3	Acute hepatic failure, Hepatomegaly, Elevated hepatic transaminase, Abnormal acetabulum morpholog...	OMIM:618641
Methylmalonic Aciduria And Homocystinuria, Cblj Type	Cryptorchidism, Thrombocytopenia, Delayed skeletal maturation, Methylmalonic aciduria, Cerebral a...	OMIM:614857
Coffin-Lowry Syndrome	Hyperextensibility of the finger joints, Rectal prolapse, Pectus carinatum, Thick nasal septum, H...	OMIM:303600
Budd-Chiari Syndrome	Gastrointestinal hemorrhage, Hepatomegaly, Intestinal obstruction, Elevated hepatic transaminase,...	ORPHA:131
Mayer-Rokitansky-Küster-Hauser Syndrome	Vertebral fusion, Unilateral renal agenesis, Ectopic kidney, Abnormal sacrum morphology, Abnormal...	ORPHA:3109
Wolman Disease	Hepatomegaly, Bone-marrow foam cells, Splenomegaly, Hepatic failure, Esophageal varix, Growth del...	ORPHA:75233
Kinsship Syndrome	Osteopenia, Short neck, Downturned corners of mouth, Widely spaced teeth, Short philtrum, Gastroe...	OMIM:619297
Wilson Disease	Acute hepatic failure, Edema, Osteoarthritis, Pedal edema, Aminoaciduria, Hepatic steatosis, Hypo...	OMIM:277900
Shprintzen-Goldberg Syndrome	Osteopenia, High, narrow palate, Abnormal form of the vertebral bodies, Pectus carinatum, Gastroe...	ORPHA:2462
Holoprosencephaly-Radial Heart Renal Anomalies Syndrome	Absent gallbladder, Aplasia/Hypoplasia of the thumb, Median cleft lip, Hypoplasia of the ulna, Mi...	ORPHA:3186
Orofaciodigital Syndrome Iii	Pectus excavatum, Kyphosis, Supernumerary tooth, Bulbous nose, Postaxial hand polydactyly, Tongue...	OMIM:258850
Proximal 16P11.2 Microdeletion Syndrome	Multicystic kidney dysplasia, Craniosynostosis, Pyloric stenosis, Rib fusion, Cleft palate, Hand ...	ORPHA:261197
Acropectorovertebral Dysplasia	Finger syndactyly, Tarsal synostosis, Spina bifida, Camptodactyly of finger, Pectus excavatum, Hi...	ORPHA:957
Mitochondrial Complex I Deficiency, Nuclear Type 35	Elevated urinary 4-hydroxybutyric acid, Nonimmune hydrops fetalis, Lacticaciduria, Pulmonary hypo...	OMIM:619003
Microcephalic Osteodysplastic Primordial Dwarfism Types I And Iii	Osteopenia, Abnormal intervertebral disk morphology, Short neck, Prominent nose, Long nose, Abnor...	ORPHA:2636
Sclerosteosis 1	Syndactyly, Depressed nasal bridge, Sclerotic scapulae, Broad clavicles, Dental malocclusion, Wid...	OMIM:269500
Intellectual Developmental Disorder, X-Linked, Syndromic, With Pigmentary Mosaicism And Coarse Facies	Cholecystitis, Broad ribs, Broad metacarpals, Hepatomegaly, Depressed nasal bridge, Hyperlordosis...	OMIM:301066
Microphthalmia With Limb Anomalies	Abnormal form of the vertebral bodies, Tibial bowing, Camptodactyly of 2nd-5th fingers, High pala...	ORPHA:1106
Neu-Laxova Syndrome 2	Decreased fetal movement, Finger syndactyly, Toe syndactyly, Rocker bottom foot, Polyhydramnios, ...	OMIM:616038
Growth Retardation, Developmental Delay, And Facial Dysmorphism	Anteverted nares, Protruding tongue, Short neck, Cryptorchidism, Alveolar ridge overgrowth, Cleft...	OMIM:612938
Alkaptonuria	Arthropathy, Vertebral fusion, Low back pain, Kyphosis, Elevated urinary homogentisic acid, Nephr...	OMIM:203500
Gracile Bone Dysplasia	Short stature, Asplenia, Flared metaphysis, Hypoplastic spleen, Thin ribs, Decreased skull ossifi...	OMIM:602361
Baller-Gerold Syndrome	Limited elbow movement, Patellar hypoplasia, Anteriorly placed anus, High palate, Choanal stenosi...	OMIM:218600
Genitopatellar Syndrome	Prominent nose, Knee flexion contracture, Gastroesophageal reflux, Short palm, Agenesis of corpus...	ORPHA:85201
Alg9-Cdg	Villous atrophy, Short neck, Abnormal lung lobation, Hydrops fetalis, Gastroesophageal reflux, Na...	ORPHA:79328
Oculocerebrorenal Syndrome Of Lowe	Hyperparathyroidism, Dental crowding, Deep philtrum, Gingivitis, Oligosacchariduria, Nephrocalcin...	ORPHA:534
Distal Deletion 13Q	Encephalocele, Aplasia/Hypoplasia of the thumb, Short stature, Microcephaly, Anencephaly, Abnorma...	ORPHA:1590
Lateral Meningocele Syndrome	Prominent metopic ridge, Dental crowding, Short neck, Pectus excavatum, High, narrow palate, Hype...	ORPHA:2789
Premature Aging Syndrome, Penttinen Type	Aplasia of the nasal bone, Hyperextensibility of the knee, Tibial bowing, Short palm, Joint contr...	OMIM:601812
Meckel Syndrome, Type 10	Occipital encephalocele, Sacral dimple, Hypospadias, Postaxial polydactyly, Malformation of the h...	OMIM:614175
Carey-Fineman-Ziter Syndrome	Cerebral calcification, Anteverted nares, Aplasia/Hypoplasia of the tongue, Short stature, Microc...	ORPHA:1358
Coenzyme Q10 Deficiency, Primary, 8	Postnatal growth retardation, Flexion contracture, Pulmonary hypoplasia, Abnormal renal corticome...	OMIM:616733
Dyskeratosis Congenita, Autosomal Dominant 2	Urethral stricture, Pancytopenia, Aplastic anemia, Short stature, Abnormality of the dentition, M...	OMIM:613989
15Q14 Microdeletion Syndrome	Short stature, Prominent nasal bridge, Abnormality of the dentition, Microcephaly, Kyphosis, Clef...	ORPHA:261190
Baller-Gerold Syndrome	Aplasia/Hypoplasia of the thumb, Abnormal carpal morphology, Anteriorly placed anus, High palate,...	ORPHA:1225
Eiken Syndrome	Delayed epiphyseal ossification, Eruption failure, Oligodontia, Pseudoepiphyses, Short philtrum, ...	OMIM:600002
Proton-Pump Inhibitor-Responsive Esophageal Eosinophilia	Abnormal peristalsis, Esophageal food impaction, Lactose intolerance, Esophageal stenosis, Allerg...	ORPHA:411696
Portal Hypertension, Noncirrhotic, 1	Elevated hepatic transaminase, Hepatomegaly, Portal hypertension, Splenomegaly, Esophageal varix	OMIM:617068
Ear-Patella-Short Stature Syndrome	Hypoplasia of penis, High, narrow palate, Epispadias, Clinodactyly of the 5th finger, Bifid uvula...	ORPHA:2554
Ornithine Transcarbamylase Deficiency, Hyperammonemia Due To	Oroticaciduria, Elevated circulating aspartate aminotransferase concentration, Cerebral edema, El...	OMIM:311250
Fraser Syndrome	Hypoplasia of penis, Cleft ala nasi, Dental crowding, Abnormal lung lobation, Orofacial cleft, Ur...	ORPHA:2052
Dystonia-Deafness Syndrome 1	Hypoplastic scapulae, Kyphoscoliosis, Cleft upper lip, Femoral retroversion, Cleft palate, Pseudo...	OMIM:607371
Aspartylglucosaminuria	Pectus carinatum, Anterior beaking of lumbar vertebrae, Abnormal vertebral morphology, Hepatomega...	ORPHA:93
Catel-Manzke Syndrome	Joint dislocation, Short neck, Pectus carinatum, Glossoptosis, High palate, Clinodactyly of the 5...	OMIM:616145
Nivelon-Nivelon-Mabille Syndrome	Short metacarpal, Severe short stature, Distal clavicular thinning, Microcephaly, Bell-shaped tho...	OMIM:600092
Pseudo-Torch Syndrome 2	Elevated hepatic transaminase, Hepatomegaly, Cerebral calcification, Microcephaly, Polymicrogyria...	OMIM:617397
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects	Osteopenia, Short neck, Accelerated skeletal maturation, Multiple joint dislocation, Pectus carin...	OMIM:245600
Phocomelia, Schinzel Type	Hypoplasia of penis, Short neck, High, narrow palate, Abnormal tibia morphology, Hydrops fetalis,...	ORPHA:2879
Hypophosphatemic Rickets With Hypercalciuria, Hereditary	Calcium nephrolithiasis, Bowing of the legs, Delayed epiphyseal ossification, Bone pain, Deformed...	OMIM:241530
Branchioskeletogenital Syndrome	Short neck, Upper limb peromelia, Downturned corners of mouth, Anteriorly placed anus, Short phil...	ORPHA:1299
Tetrasomy 9P	Joint dislocation, Dental crowding, Short neck, Biliary atresia, Downturned corners of mouth, Hig...	ORPHA:3310
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency	Elevated hepatic transaminase, Hepatomegaly, Short stature, Abnormal erythrocyte enzyme level, Sp...	ORPHA:264580
Familial Visceral Myopathy	Hyperparathyroidism, Hydroureter, Anteverted nares, Prominent nasal bridge, Aganglionic megacolon...	ORPHA:2604
Osteogenesis Imperfecta, Type Vi	Joint laxity, Protrusio acetabuli, Vertebral compression fracture, Coxa vara, Increased susceptib...	OMIM:613982
Contractures-Developmental Delay-Pierre Robin Syndrome	Hypospadias, Thoracolumbar scoliosis, Arachnodactyly, Underdeveloped nasal alae, Overlapping toe,...	ORPHA:436003
Mucolipidosis Iii Alpha/Beta	Soft tissue swelling of interphalangeal joints, Short stature, Craniosynostosis, Irregular carpal...	OMIM:252600
Vitamin D Hydroxylation-Deficient Rickets, Type 1A	Bowing of the legs, Delayed epiphyseal ossification, Bone pain, Deformed rib cage, Femoral bowing...	OMIM:264700
Spondyloepiphyseal Dysplasia With Congenital Joint Dislocations	Joint dislocation, Arthropathy, Genu recurvatum, Limited hip extension, Short neck, Flexion contr...	OMIM:143095
Lissencephaly Type 3-Metacarpal Bone Dysplasia Syndrome	Short metacarpal, Polyhydramnios, Microcephaly, Facial edema, Partial agenesis of the corpus call...	ORPHA:86822
Corpus Callosum, Agenesis Of, With Facial Anomalies And Robin Sequence	Syndactyly, Anteverted nares, Depressed nasal bridge, Hypospadias, Short neck, Microcephaly, Cryp...	OMIM:217980
Ogden Syndrome	Congenital hip dislocation, Short neck, Lymphedema, Microvesicular hepatic steatosis, Deep philtr...	OMIM:300855
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies	Hyperextensibility of the finger joints, Internally rotated shoulders, Dental crowding, Decreased...	OMIM:619503
Distal Limb Deficiencies-Micrognathia Syndrome	Aplasia/Hypoplasia of the thumb, Renal insufficiency, Proteinuria, Prominent nasal bridge, Tarsal...	ORPHA:1307
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome	Hallux valgus, Spontaneous, recurrent epistaxis, Pancytopenia, Pectus excavatum, Abnormality of t...	ORPHA:2072
Mucopolysaccharidosis Type 3	Abnormal clavicle morphology, Adenoiditis, Flexion contracture, Abnormal form of the vertebral bo...	ORPHA:581
Alpha-Mannosidosis, Infantile Form	Osteopenia, Thickened ribs, Short neck, Pectus carinatum, Oligosacchariduria, Cortical thickening...	ORPHA:309282
Senior-Boichis Syndrome	Elevated hepatic transaminase, Diffuse cerebral atrophy, Portal hypertension, Malformation of the...	ORPHA:84081
Oculocerebrocutaneous Syndrome	Finger syndactyly, Congenital hip dislocation, Missing ribs, Aplasia/Hypoplasia of the distal pha...	ORPHA:1647
Caroli Disease	Cholangiocarcinoma, Hepatomegaly, Liver abscess, Cholangitis, Portal hypertension, Splenomegaly, ...	ORPHA:53035
Orofaciodigital Syndrome V	Lobulated tongue, High palate, Agenesis of corpus callosum, Bifid uvula, Hamartoma of tongue, Pos...	OMIM:174300
Geroderma Osteodysplasticum	Osteopenia, Hyperextensibility of the finger joints, Severe short stature, Recurrent fractures, K...	OMIM:231070
Fibrous Dysplasia Of Bone	Abnormal clavicle morphology, Abnormal tibia morphology, Bone pain, Abnormal femur morphology, Co...	ORPHA:249
Recombinant 8 Syndrome	Anteverted nares, Depressed nasal bridge, Camptodactyly of finger, Cleft upper lip, Pectus excava...	ORPHA:96167
Spondyloepimetaphyseal Dysplasia, X-Linked	Anterior wedging of T12, Pectus carinatum, Long fibula, Short palm, Short phalanx of finger, Broa...	OMIM:300106
Peroxisome Biogenesis Disorder 1A (Zellweger)	High, narrow palate, Aminoaciduria, High palate, Intrahepatic biliary dysgenesis, Hepatomegaly, A...	OMIM:214100
Nestor-Guillermo Progeria Syndrome	Dental crowding, Limited elbow movement, Flexion contracture, Rib osteolysis, Cavum septum pelluc...	OMIM:614008
Osteogenesis Imperfecta, Type Xi	Osteopenia, Joint laxity, Short stature, Recurrent fractures, Kyphoscoliosis, Protrusio acetabuli...	OMIM:610968
Spinal Muscular Atrophy With Congenital Bone Fractures 2	Decreased fetal movement, Premature birth, Abnormal cortical gyration, Polyhydramnios, Multiple p...	OMIM:616867
Mandibuloacral Dysplasia Progeroid Syndrome	Osteopenia, Flexion contracture, High palate, Short philtrum, Macrovesicular hepatic steatosis, H...	OMIM:619127
Visceral Myopathy 2	Intestinal obstruction, Necrotizing enterocolitis, Intestinal pseudo-obstruction, Intestinal malr...	OMIM:619350
Waardenburg Syndrome Type 1	Tented upper lip vermilion, Aganglionic megacolon, Spina bifida, Cleft upper lip, Underdeveloped ...	ORPHA:894
Vitamin D Hydroxylation-Deficient Rickets, Type 1B	Enlargement of the ankles, Bulging epiphyses, Recurrent fractures, Bowing of the legs, Enlargemen...	OMIM:600081
Melnick-Needles Syndrome	Anterior concavity of thoracic vertebrae, Tibial bowing, Narrow chest, Ureteral stenosis, Cone-sh...	OMIM:309350
Saethre-Chotzen Syndrome	Proximal radio-ulnar synostosis, Finger syndactyly, Hallux valgus, Depressed nasal bridge, Promin...	ORPHA:794
Joubert Syndrome	Encephalocele, Aganglionic megacolon, Anteverted nares, Prominent nasal bridge, Orofacial cleft, ...	ORPHA:475
Duplication Of The Pituitary Gland	Encephalocele, Thoracic scoliosis, Abnormal odontoid process morphology, Abnormality of joint mob...	ORPHA:314621
Sponastrime Dysplasia	Aplasia of the nasal bone, Delayed epiphyseal ossification, Generalized joint laxity, Metaphyseal...	ORPHA:93357
Immunodeficiency 23	Hemolytic anemia, Recurrent respiratory infections, Membranoproliferative glomerulonephritis, All...	OMIM:615816
Weill-Marchesani Syndrome 1	Lumbar hyperlordosis, Depressed nasal bridge, Short stature, Proportionate short stature, Joint s...	OMIM:277600
Thoracic Outlet Syndrome	Abnormal rib morphology, Edema	ORPHA:97330
Andersen Cardiodysrhythmic Periodic Paralysis	Dental crowding, Short metatarsal, Oligodontia, High palate, Short palm, Clinodactyly of the 5th ...	OMIM:170390
Smith-Lemli-Opitz Syndrome	Diffuse cerebral atrophy, Dental crowding, Proximal placement of thumb, Gastrointestinal dysmotil...	OMIM:270400
Brachycephaly, Deafness, Cataract, Microstomia, And Impaired Intellectual Development	Pectus excavatum of inferior sternum, Thin upper lip vermilion, Brachydactyly, Depressed nasal br...	OMIM:601353
Neuronal Intranuclear Inclusion Disease	Spina bifida occulta, Scoliosis, Abnormal form of the vertebral bodies	ORPHA:2289
Dyskeratosis Congenita, Autosomal Dominant 6	Pancytopenia, Esophageal stenosis, Aplastic anemia, Abnormality of the dentition, Microcephaly, B...	OMIM:616553
Hajdu-Cheney Syndrome	Osteopenia, Short neck, Renal cyst, High palate, Premature loss of teeth, Dislocated radial head,...	OMIM:102500
Kindler Epidermolysis Bullosa	Urethral stricture, Flexion contracture, Gingivitis, Inflammation of the large intestine, Colitis...	ORPHA:2908
Stickler Syndrome	Joint dislocation, Osteoarthritis, Depressed nasal ridge, Bone pain, Abnormal form of the vertebr...	ORPHA:828
Distal Deletion 9P	Hypospadias, Short neck, Abnormality of the dentition, High, narrow palate, Wide nasal bridge, Cl...	ORPHA:1642
Oculodentodigital Dysplasia	Selective tooth agenesis, Basal ganglia calcification, Clinodactyly, High palate, Joint contractu...	OMIM:164200
Telo2-Related Intellectual Disability-Neurodevelopmental Disorder	Pectus carinatum, Downturned corners of mouth, Knee flexion contracture, Clinodactyly of the 5th ...	ORPHA:488642
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Intermediate Form	Esophageal stenosis, Anal fissure, Carious teeth, Esophageal stricture, Flexion contracture, Dysp...	ORPHA:89842
Microcephaly-Seizures-Intellectual Disability-Heart Disease Syndrome	Supernumerary nipple, Microcephaly, Cryptorchidism, Postaxial hand polydactyly, Abnormal rib morp...	ORPHA:2519
8P11.2 Deletion Syndrome	Hemolytic anemia, Sacral dimple, Hypoplasia of penis, Depressed nasal bridge, Short stature, Micr...	ORPHA:251066
Osteopetrosis, Autosomal Dominant 2	Recurrent fractures, Mandibular osteomyelitis, Abnormality of the vertebral endplates, Fractures ...	OMIM:166600
Aymé-Gripp Syndrome	Oligodontia, Clinodactyly of the 5th finger, Prominent metopic ridge, Depressed nasal bridge, Sho...	ORPHA:1272
Robinow Syndrome, Autosomal Dominant 3	Short neck, Clinodactyly, Anteriorly placed anus, Downturned corners of mouth, Vesicoureteral ref...	OMIM:616894
Acute Liver Failure	Gastrointestinal hemorrhage, Elevated hepatic transaminase, Thrombocytopenia, Jaundice, Hepatitis...	ORPHA:90062
Renal-Hepatic-Pancreatic Dysplasia 1	Asplenia, Hepatic fibrosis, Neonatal death, Hepatomegaly, Portal hypertension, Malformation of th...	OMIM:208540
Frank-Ter Haar Syndrome	Osteopenia, Anterior concavity of thoracic vertebrae, High palate, Short palm, Short phalanx of f...	OMIM:249420
Loeys-Dietz Syndrome 5	Tented upper lip vermilion, Osteoarthritis, Pectus carinatum, High palate, Bilateral coxa valga, ...	OMIM:615582
Bosma Arhinia Microphthalmia Syndrome	Hypospadias, Choanal atresia, Cleft lip, Cryptorchidism, Dental malocclusion, Anosmia, Cleft pala...	OMIM:603457
X-Linked Alport Syndrome-Diffuse Leiomyomatosis	Recurrent respiratory infections, Tracheobronchial leiomyomatosis, Esophageal stenosis, Proteinur...	ORPHA:1018
Roberts Syndrome	Aplasia/Hypoplasia of the thumb, Polyhydramnios, Short neck, Proximal placement of thumb, Knee fl...	ORPHA:3103
Cholestasis, Progressive Familial Intrahepatic, 8	Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Portal hypertension,...	OMIM:619662
Global Developmental Delay-Alopecia-Macrocephaly-Facial Dysmorphism-Structural Brain Anomalies Syndrome	Sacral dimple, Tapered toe, Polyhydramnios, Tapered finger, Celiac disease, Bilateral cryptorchid...	ORPHA:544488
Renal-Hepatic-Pancreatic Dysplasia 2	Hepatomegaly, Hepatic cysts, Malformation of the hepatic ductal plate, Asplenia, Abnormal lung lo...	OMIM:615415
Otopalatodigital Syndrome, Type Ii	Congenital hip dislocation, Elbow contracture, Short neck, Short metatarsal, Femoral bowing, Tibi...	OMIM:304120
Developmental Delay With Or Without Dysmorphic Facies And Autism	Laryngotracheomalacia, 2-3 toe cutaneous syndactyly, Renal cyst, Short philtrum, Microphallus, Ve...	OMIM:618454
Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 1	Gastrointestinal hemorrhage, Decreased fetal movement, Osteopenia, Joint dislocation, Dental crow...	OMIM:225400
Chromosome 15Q25 Deletion Syndrome	Macrocytic anemia, Tented upper lip vermilion, Short stature, Cleft upper lip, Pectus excavatum, ...	OMIM:614294
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency	Diffuse mesangial sclerosis, Hepatomegaly, Autoimmune hemolytic anemia, Severe B lymphocytopenia,...	OMIM:102700
Diaphragmatic Defects, Limb Deficiencies, And Ossification Defects Of Skull	Syndactyly, Toe syndactyly, Anteverted nares, Intestinal malrotation, Pulmonary hypoplasia, Clino...	OMIM:601163
Coffin-Siris Syndrome 4	Prominent interphalangeal joints, Short philtrum, Pulmonary artery atresia, Thick nasal alae, Age...	OMIM:614609
Craniosynostosis-Anal Anomalies-Porokeratosis Syndrome	Abnormal clavicle morphology, Abnormal dental morphology, Abnormal dental enamel morphology, Apla...	ORPHA:85199
Dyskeratosis Congenita, Autosomal Recessive 5	Esophageal stenosis, Microcephaly, Postnatal growth retardation, Leukopenia, Colitis, Bone marrow...	OMIM:615190
Treacher Collins Syndrome 2	Fusion of middle ear ossicles, Choanal stenosis, Choanal atresia, Cleft palate	OMIM:613717
Hereditary Acrokeratotic Poikiloderma	Abnormality of the gastrointestinal tract, Finger syndactyly, Short stature, Camptodactyly of fin...	ORPHA:2907
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 1	Osteopenia, Joint dislocation, Genu recurvatum, Accelerated skeletal maturation, Flexion contract...	OMIM:130070
Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum	Osteopenia, Arthropathy, Sclerotic cranial sutures, Osteolysis involving bones of the upper limbs...	ORPHA:371428
Gastrointestinal Defects And Immunodeficiency Syndrome 2	Kyphosis, Interstitial emphysema, Bronchiectasis, Knee flexion contracture, Thin corpus callosum,...	OMIM:619708
Orofaciodigital Syndrome Iv	Toe syndactyly, Short stature, Hamartoma of tongue, Accessory oral frenulum, Pectus excavatum, Po...	OMIM:258860
Diaphragmatic Hernia 4, With Cardiovascular Defects	11 pairs of ribs, Finger syndactyly, Hepatomegaly, Polyhydramnios, Cryptorchidism, Bulbous nose, ...	OMIM:620025
Camptodactyly, Tall Stature, And Hearing Loss Syndrome	Arachnodactyly, Microcephaly, Pectus excavatum, Increased vertebral height, High palate, Scoliosi...	OMIM:610474
Immunodeficiency 12	Short stature, Abnormal lymphocyte count, Esophageal stricture, Delayed skeletal maturation, Oste...	OMIM:615468
Cdags Syndrome	Hypospadias, Delayed cranial suture closure, Sagittal craniosynostosis, Rectourethral fistula, Ky...	OMIM:603116
Hypocalcemic Vitamin D-Dependent Rickets	Irregular, rachitic-like metaphyses, Delayed epiphyseal ossification, Bone pain, Deformed rib cag...	ORPHA:289157
Weill-Marchesani Syndrome 2	Short metatarsal, High palate, Broad ribs, Broad metacarpals, Short metacarpal, Lumbar hyperlordo...	OMIM:608328
Williams Syndrome	Osteopenia, Hypoplasia of penis, Periorbital edema, Rectal prolapse, Abnormal form of the vertebr...	ORPHA:904
Caroli Syndrome	Liver abscess, Cholangitis, Abnormal intrahepatic bile duct morphology, Leukopenia, Hepatomegaly,...	ORPHA:480520
Septo-Optic Dysplasia Spectrum	Hypoplasia of penis, Septo-optic dysplasia, Short stature, Anterior pituitary hypoplasia, Absent ...	ORPHA:3157
Cortical Dysplasia, Complex, With Other Brain Malformations 9	Short stature, Reduced cerebral white matter volume, Secondary microcephaly, Pulmonary hypoplasia...	OMIM:618174
Meckel Syndrome, Type 6	Absent gallbladder, Occipital encephalocele, Cleft upper lip, Postaxial hand polydactyly, Bilobed...	OMIM:612284
Mucopolysaccharidosis Type 2, Attenuated Form	Thickened ribs, Flexion contracture, Increased size of nasopharyngeal adenoids, Abnormal vertebra...	ORPHA:217093
Acrofacial Dysostosis 1, Nager Type	Aplasia/Hypoplasia of the thumb, Hypoplasia of first ribs, Foot oligodactyly, Triphalangeal thumb...	OMIM:154400
Heterotaxy, Visceral, 1, X-Linked	Absence of the sacrum, Bilateral trilobed lung, Congenital hip dislocation, Block vertebrae, Hepa...	OMIM:306955
Orofaciodigital Syndrome Vi	Porencephalic cyst, Tibial bowing, Lobulated tongue, High palate, Agenesis of corpus callosum, Sh...	OMIM:277170
Toriello-Carey Syndrome	Brachydactyly, Aganglionic megacolon, Short stature, Short neck, Microcephaly, Cryptorchidism, Pa...	ORPHA:3338
Czech Dysplasia	Narrow femoral neck, Short metacarpal, Flat capital femoral epiphysis, Short toe, Flexion contrac...	OMIM:609162
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 4B	Neonatal death, 3-Methylglutaconic aciduria, Pulmonary hypoplasia	OMIM:615228
Teebi Hypertelorism Syndrome 1	Thin upper lip vermilion, Natal tooth, Anteverted nares, Dental crowding, Depressed nasal bridge,...	OMIM:145420
1P36 Deletion Syndrome	Hypoplasia of penis, Abnormality of the spleen, Depressed nasal ridge, Renal cyst, Abnormality of...	ORPHA:1606
Meckel Syndrome 14	Occipital encephalocele, Syndactyly, Bowing of the long bones, Anteverted nares, Postaxial polyda...	OMIM:619879
Autosomal Dominant Centronuclear Myopathy	Decreased fetal movement, Urinary incontinence, Polyhydramnios, Cryptorchidism, Pyloric stenosis,...	ORPHA:169189
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 1	Ureteral duplication, Polyhydramnios, High palate, Gastroesophageal reflux, Vesicoureteral reflux...	OMIM:614080
Juvenile Sialidosis Type 2	Hepatomegaly, Protruding tongue, Gingival overgrowth, Abnormal form of the vertebral bodies, Hepa...	ORPHA:93399
Epidermolysis Bullosa, Junctional 5B, With Pyloric Atresia	Polyhydramnios, Oral mucosal blisters, Esophageal atresia, Congenital pyloric atresia, Urethroves...	OMIM:226730
1Q41Q42 Microdeletion Syndrome	Depressed nasal bridge, Short stature, Broad nasal tip, Underdeveloped nasal alae, Cryptorchidism...	ORPHA:250999
Osteopetrosis With Renal Tubular Acidosis	Cerebral calcification, Basal ganglia calcification, Leukopenia, High palate, Abnormal periventri...	ORPHA:2785
Trisomy 8P	Short fourth metatarsal, Multiple joint contractures, Short neck, Fetal pyelectasis, Abnormal lun...	ORPHA:264450
Dyskeratosis Congenita, Autosomal Recessive 1	Pancytopenia, Aplastic anemia, Microcephaly, Carious teeth, Esophageal stricture, Osteoporosis, H...	OMIM:224230
Rhombencephalosynapsis	Finger syndactyly, Septo-optic dysplasia, Aganglionic megacolon, Anteverted nares, Esophageal atr...	ORPHA:59315
Craniotubular Dysplasia, Ikegawa Type	Short palm, Metaphyseal dysplasia, Anteverted nares, Short stature, Increased intervertebral spac...	OMIM:619727
Pulmonary Hypoplasia, Primary	Neonatal death, Pulmonary hypoplasia	OMIM:265430
Acrocallosal Syndrome	Downturned corners of mouth, High palate, Short philtrum, Clinodactyly of the 5th finger, Micrope...	OMIM:200990
Cutis Laxa, Autosomal Recessive, Type Ic	Osteopenia, Periorbital edema, Rectal prolapse, Hypoplasia of the thymus, Gastroesophageal reflux...	OMIM:613177
Genitopatellar Syndrome	Congenital hip dislocation, Polyhydramnios, Prominent nose, Knee flexion contracture, Anteriorly ...	OMIM:606170
C Syndrome	Joint dislocation, Polyhydramnios, Short neck, High palate, Clinodactyly of the 5th finger, Abnor...	ORPHA:1308
Progeroid Short Stature With Pigmented Nevi	Irregular dentition, Thoracic scoliosis, Hypospadias, Allergic rhinitis, Short stature, Abnormal ...	OMIM:176690
Feingold Syndrome 1	Polyhydramnios, Asplenia, High palate, Accessory spleen, Anteverted nares, Esophageal atresia, Sh...	OMIM:164280
Neutropenia, Severe Congenital, 4, Autosomal Recessive	Oral ulcer, Neonatal omphalitis, Pectus carinatum, Leukopenia, High palate, Hypoplasia of the thy...	OMIM:612541
Spondylospinal Thoracic Dysostosis	Arthrogryposis multiplex congenita, Short thorax, Pulmonary hypoplasia, Multiple pterygia	OMIM:601809
Atelosteogenesis Type Iii	Polyhydramnios, Short tubular bones of the hand, Knee dislocation, High palate, Short tibia, Vert...	ORPHA:56305
Mucopolysaccharidosis Type 2, Severe Form	Thickened ribs, Flexion contracture, Increased size of nasopharyngeal adenoids, Abnormal vertebra...	ORPHA:217085
Maternal Phenylketonuria	Brachydactyly, Anteverted nares, Microcephaly, Bifid distal phalanx of the thumb, Esophageal atre...	ORPHA:2209
Shwachman-Diamond Syndrome 2	Normocytic anemia, Hepatomegaly, Short stature, Anterior rib cupping, Microcephaly, Exocrine panc...	OMIM:617941
Leopard Syndrome 1	Limited elbow movement, Short neck, Depressed nasal ridge, Pectus carinatum, Aplasia of the ovary...	OMIM:151100
Autosomal Recessive Malignant Osteopetrosis	Delayed eruption of teeth, Recurrent respiratory infections, Bowing of the long bones, Hepatomega...	ORPHA:667
Constricting Bands, Congenital	Encephalocele, Syndactyly, Cleft upper lip, Abnormal lung lobation, Cleft palate, Abnormal rib ca...	OMIM:217100
Intellectual Disability-Cataracts-Calcified Pinnae-Myopathy Syndrome	Hip contracture, Short stature, Pectus excavatum, Kyphosis, Bilateral cryptorchidism, Flexion con...	ORPHA:3042
Primary Pulmonary Hypoplasia	Recurrent respiratory infections, Ureteral stenosis, Microcephaly, Pneumothorax, Cleft palate, Pa...	ORPHA:2257
Fontaine Progeroid Syndrome	High, narrow palate, Coronal craniosynostosis, Anteriorly placed anus, Oligodontia, Gastroesophag...	OMIM:612289
Meckel Syndrome, Type 2	Encephalocele, Bowing of the long bones, Intestinal malrotation, Postaxial hand polydactyly, Meni...	OMIM:603194
Biliary, Renal, Neurologic, And Skeletal Syndrome	Osteopenia, Anterior pituitary hypoplasia, Polyhydramnios, Edema, Knee dislocation, Gastroesophag...	OMIM:619534
Agnathia-Otocephaly Complex	Wide nose, Polyhydramnios, Aglossia, Cleft palate, Pulmonary hypoplasia, Narrow mouth, Tracheomal...	OMIM:202650
Arima Syndrome	Hepatomegaly, Proteinuria, Polyuria, Postaxial hand polydactyly, Esophageal varix, Stage 5 chroni...	OMIM:243910
Geleophysic Dysplasia 2	Short palm, Thin upper lip vermilion, Hepatomegaly, Short stature, Ovoid vertebral bodies, Joint ...	OMIM:614185
Paget Disease Of Bone 2, Early-Onset	Sandwich appearance of vertebral bodies, Bowing of the long bones, Short femur, Fractures of the ...	OMIM:602080
Matthew-Wood Syndrome	Cryptorchidism, Abnormal lung morphology, Renal hypoplasia, Horseshoe kidney, Duodenal stenosis, ...	ORPHA:2470
Renal Hypodysplasia/Aplasia 4	Pulmonary hypoplasia, Anhydramnios	OMIM:619887
Proboscis Lateralis	Choanal atresia, Proboscis, Unilateral renal agenesis, Agenesis of canine, Single naris, Orofacia...	ORPHA:141099
Aspartylglucosaminuria	Vacuolated lymphocytes, Neutropenia, Joint laxity, Hepatomegaly, Anteverted nares, Depressed nasa...	OMIM:208400
Renal Hypodysplasia/Aplasia 2	Pulmonary hypoplasia, Anhydramnios	OMIM:615721
Lethal Congenital Contracture Syndrome 5	Decreased fetal movement, Polyhydramnios, Flexion contracture, Thin ribs, Congenital contracture	OMIM:615368
Faciocardiomelic Syndrome	Osteopenia, Dysharmonic bone age, Anteverted nares, Depressed nasal bridge, Microcephaly, Cuboid-...	OMIM:612731
Cirrhosis, Familial	Jaundice, Micronodular cirrhosis, Esophageal varix, Biliary cirrhosis, Increased level of L-fucos...	OMIM:215600
Plummer-Vinson Syndrome	Tongue atrophy, Intra-oral hyperpigmentation, Cheilitis, Hypochromic microcytic anemia, Dysphagia...	ORPHA:54028
Distal Deletion 15Q	Generalized joint laxity, 2-3 toe cutaneous syndactyly, Finger clinodactyly, Short philtrum, Low ...	ORPHA:1596
Dyskeratosis Congenita, Autosomal Recessive 8	Pancytopenia, Premature birth, Esophageal stricture, Pancolitis, Inflammation of the large intest...	OMIM:620133
Fanconi Anemia, Complementation Group D2	Ectopic kidney, Reticulocytopenia, Aplasia of the 1st metacarpal, Neutropenia, Micropenis, Pelvic...	OMIM:227646
Townes-Brocks Syndrome	Hypoplasia of penis, Ectopic kidney, Anteriorly placed anus, Triphalangeal thumb, Vesicoureteral ...	ORPHA:857
Breasts And/Or Nipples, Aplasia Or Hypoplasia Of, 1	Absent nipple, Choanal atresia	OMIM:113700
Serkal Syndrome	Abnormal penis morphology, Hypospadias, Malrotation of small bowel, Orofacial cleft, Growth delay...	ORPHA:139466
Fanconi Anemia, Complementation Group Q	Short stature, Microcephaly, Absent thumb, Esophageal atresia, Biliary atresia, Anteriorly placed...	OMIM:615272
Adams-Oliver Syndrome 5	Syndactyly, Hypersplenism, Splenomegaly, Portal vein thrombosis, Esophageal varix, Umbilical hern...	OMIM:616028
Non-Syndromic Posterior Hypospadias	Esophageal atresia, Ventral shortening of foreskin, Cryptorchidism, Cleft palate, Urethral divert...	ORPHA:95706
Pagod Syndrome	Encephalocele, Abnormal clavicle morphology, Multicystic kidney dysplasia, Short stature, Spina b...	ORPHA:991
Microphthalmia, Syndromic 1	Dental crowding, High, narrow palate, Rectal prolapse, Orofacial cleft, High palate, Narrow chest...	OMIM:309800
Focal Dermal Hypoplasia	Ureteral duplication, Cleft ala nasi, Congenital hip dislocation, Osteopathia striata, Short meta...	OMIM:305600
Multiple Acyl-Coa Dehydrogenase Deficiency	Hepatomegaly, Depressed nasal bridge, Glutaric aciduria, Jaundice, Generalized aminoaciduria, Ren...	OMIM:231680
Orofaciodigital Syndrome I	Porencephalic cyst, Lobulated tongue, High palate, Hepatic fibrosis, Agenesis of corpus callosum,...	OMIM:311200
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome	Elevated hepatic transaminase, Hepatomegaly, Pancytopenia, Portal hypertension, Splenomegaly, Aph...	OMIM:615688
Sacral Agenesis With Vertebral Anomalies	Absence of the sacrum, Unilateral renal agenesis, Vertebral clefting, Neonatal death, Abnormal ve...	OMIM:615709
46,Xx Sex Reversal With Dysgenesis Of Kidneys, Adrenals, And Lungs	Hypospadias, Cleft lip, Pulmonary artery stenosis, Oligohydramnios, Cleft palate, Bilateral lung ...	OMIM:611812
Mycophenolate Mofetil Embryopathy	Ectopic kidney, Tracheoesophageal fistula, Orofacial cleft, Hydrops fetalis, Bifid thoracic verte...	ORPHA:268249
Linear Nevus Sebaceus Syndrome	Cerebral calcification, Genu recurvatum, Porencephalic cyst, Aplasia/Hypoplasia of the corpus cal...	ORPHA:2612
Fraser Syndrome 1	Aplasia/Hypoplasia of the thumb, Cleft ala nasi, Dental crowding, Cutaneous finger syndactyly, Ch...	OMIM:219000
Chromosome 1P36 Deletion Syndrome, Distal	Ectopic kidney, Depressed nasal ridge, Abnormal lung lobation, Orofacial cleft, High palate, Gast...	OMIM:607872
Recessive Dystrophic Epidermolysis Bullosa Inversa	Urethral stricture, Oral mucosal blisters, Carious teeth, Esophageal stricture, Gastrointestinal ...	ORPHA:79409
Epidermolysis Bullosa, Junctional 6, With Pyloric Atresia	Neonatal death, Esophageal stenosis, Congenital pyloric atresia, Oral mucosal blisters	OMIM:619817
Chronic Graft Versus Host Disease	Elevated hepatic transaminase, Pancytopenia, Phimosis, Urinary bladder inflammation, Esophageal s...	ORPHA:99921
Joubert Syndrome 21	Encephalocele, Occipital encephalocele, Splenomegaly, Single naris, Renal cyst, Bell-shaped thora...	OMIM:615636
Osteoporosis-Pseudoglioma Syndrome	Barrel-shaped chest, Osteopenia, Short stature, Recurrent fractures, Kyphoscoliosis, Microcephaly...	OMIM:259770
Dyskeratosis Congenita, X-Linked	Leukopenia, Pterygium, Premature loss of teeth, Hypospadias, Short stature, Cryptorchidism, Osteo...	OMIM:305000
Gabriele-De Vries Syndrome	Decreased response to growth hormone stimulation test, Oral-pharyngeal dysphagia, High palate, Fi...	ORPHA:506358
Microphthalmia, Syndromic 9	Severe short stature, Short stature, Pulmonary artery atresia, Cryptorchidism, Agenesis of pulmon...	OMIM:601186
Renpenning Syndrome 1	High palate, Short philtrum, Clinodactyly of the 5th finger, Hypospadias, Short stature, Wide nas...	OMIM:309500
Wiedemann-Rautenstrauch Syndrome	Short neck, Flexion contracture, Downturned corners of mouth, Hypoplasia of the thymus, Narrow ch...	OMIM:264090
Okamoto Syndrome	Tented upper lip vermilion, Urinary incontinence, Downturned corners of mouth, Gastroesophageal r...	ORPHA:2729
Ehlers-Danlos Syndrome, Musculocontractural Type, 1	Joint dislocation, Generalized joint laxity, High palate, Long philtrum, Joint laxity, Arachnodac...	OMIM:601776
Spinal Muscular Atrophy With Congenital Bone Fractures 1	Decreased fetal movement, Premature birth, Multiple prenatal fractures, Narrow mouth, Flexion con...	OMIM:616866
Yunis-Varon Syndrome	Congenital hip dislocation, Anterior concavity of thoracic vertebrae, Polyhydramnios, Short metat...	OMIM:216340
Cirrhosis-Dystonia-Polycythemia-Hypermanganesemia Syndrome	Abnormal basal ganglia MRI signal intensity, Hepatomegaly, Elevated hepatic transaminase, Portal ...	ORPHA:309854
Kabuki Syndrome 1	Joint dislocation, Congenital hip dislocation, High palate, Prominent fingertip pads, Micropenis,...	OMIM:147920
Feingold Syndrome Type 1	Renal insufficiency, Toe syndactyly, Jejunal atresia, Short stature, Microcephaly, Short middle p...	ORPHA:391641
Combined Oxidative Phosphorylation Deficiency 8	Neonatal death, Pulmonary hypoplasia	OMIM:614096
Treacher Collins Syndrome 1	Cleft soft palate, Choanal atresia, Cryptorchidism, Cleft palate, Wide mouth, Abnormal parotid gl...	OMIM:154500
Congenital Diaphragmatic Hernia	Prominent sternum, Pulmonary hypoplasia, Intestinal malrotation	ORPHA:2140
Larsen-Like Syndrome, Lethal Type	Joint dislocation, Tracheomalacia, Multiple joint dislocation, Pulmonary hypoplasia, Neonatal death	OMIM:245650
Peters Plus Syndrome	Ureteral duplication, Polyhydramnios, Short neck, Abnormal pulmonary vein morphology, Widely spac...	ORPHA:709
Lysosomal Acid Lipase Deficiency	Elevated hepatic transaminase, Fatal liver failure in infancy, Bone-marrow foam cells, Renal salt...	ORPHA:275761
Oculogastrointestinal Muscular Dystrophy	Abnormality of the gastrointestinal tract, Spontaneous esophageal perforation, Intestinal pseudo-...	ORPHA:1876
Hereditary Hemorrhagic Telangiectasia	Intestinal polyposis, Gastrointestinal hemorrhage, Epistaxis, Portal hypertension, Microcytic ane...	ORPHA:774
Proteus Syndrome	Lymphedema, Abnormal lung lobation, Abnormal finger morphology, Abnormal form of the vertebral bo...	ORPHA:744
Beckwith-Wiedemann Syndrome	Ureteral duplication, Polyhydramnios, Accelerated skeletal maturation, Subchorionic septal cyst, ...	ORPHA:116
Benign Schwannoma	Intestinal polyposis, Nasal polyposis, Abnormal fibula morphology, Abnormality of the liver, Abno...	ORPHA:252164
Ectodermal Dysplasia/Short Stature Syndrome	Delayed eruption of teeth, Short stature, Esophageal stricture, Hypodontia, Dysphagia, Enamel hyp...	OMIM:616029
Coccidioidomycosis	Renal insufficiency, Osteomyelitis, Eosinophilia, Pneumonia, Abnormality of the spleen, Mediastin...	ORPHA:228123
Pericardial And Diaphragmatic Defect	Intestinal malrotation, Pectus excavatum, Abnormal sternum morphology, Pulmonary hypoplasia, Pulm...	ORPHA:2847
Currarino Syndrome	Absence of the sacrum, Anal stenosis, Hemisacrum, Neurogenic bladder, Urinary incontinence, Peria...	OMIM:176450
Ring Chromosome 7 Syndrome	Short philtrum, Clinodactyly of the 5th finger, Median cleft palate, Bifid uvula, Anteverted nare...	ORPHA:1449
Severe Generalized Junctional Epidermolysis Bullosa	Urethral stricture, Abnormal oral mucosa morphology, Edema, Renal cyst, Gastrointestinal inflamma...	ORPHA:79404
Menke-Hennekam Syndrome 1	Deep philtrum, Flexion contracture, Depressed nasal ridge, Cutaneous syndactyly of toes, High pal...	OMIM:618332
Noonan Syndrome 1	Amegakaryocytic thrombocytopenia, Short neck, Lymphedema, High, narrow palate, Abnormal sternum m...	OMIM:163950
Chromosome 17Q12 Duplication Syndrome	Cleft soft palate, Esophageal atresia, Broad thumb, Smooth philtrum, Brachydactyly	OMIM:614526
Orofaciodigital Syndrome Xiv	Occipital encephalocele, Epispadias, Partial agenesis of the corpus callosum, Preaxial polydactyl...	OMIM:615948
Sacral Defect With Anterior Meningocele	Back pain, Absence of the sacrum, Neurogenic bladder, Hemisacrum, Myeloschisis, Myelomeningocele,...	OMIM:600145
Craniorachischisis	Cervical spina bifida, Myelomeningocele, Anencephaly, Spinal dysraphism, Sirenomelia, Bifid stern...	ORPHA:63260
Robin Sequence With Cleft Mandible And Limb Anomalies	Proximal placement of thumb, Prominent nose, Aplasia of the epiglottis, High palate, Clinodactyly...	OMIM:268305
Nephronophthisis 2	Absence of renal corticomedullary differentiation, Stage 5 chronic kidney disease, Chronic tubulo...	OMIM:602088
Pallister-Killian Syndrome	Tented upper lip vermilion, Edema of the dorsum of feet, Congenital hip dislocation, Polyhydramni...	OMIM:601803
Ifap Syndrome 1, With Or Without Bresheck Syndrome	Choanal stenosis, Neonatal death, Multicystic kidney dysplasia, Hypospadias, Short stature, Crypt...	OMIM:308205
Stevens-Johnson Syndrome	Gastrointestinal hemorrhage, Recurrent respiratory infections, Renal insufficiency, Acute hepatic...	ORPHA:36426
Roberts-Sc Phocomelia Syndrome	Polyhydramnios, Short neck, Tetraphocomelia, Knee flexion contracture, High palate, Phocomelia, W...	OMIM:268300
Penile Agenesis	Urethral atresia, male, Depressed nasal bridge, Hydroureter, Rectal fistula, Cryptorchidism, Feta...	ORPHA:49
Mowat-Wilson Syndrome Due To Monosomy 2Q22	Dental crowding, Urinary incontinence, Cleft hard palate, Asplenia, Flexion contracture, Calcaneo...	ORPHA:261537
Osteopetrosis, Autosomal Recessive 7	Multiple rib fractures, Hepatomegaly, Femur fracture, Splenomegaly, Recurrent pneumonia, Growth d...	OMIM:612301
Localized Dystrophic Epidermolysis Bullosa, Acral Form	Abnormality of the knee, Esophageal stricture, Abnormality of the elbow	ORPHA:158673
Kindler Syndrome	Anal stenosis, Esophageal stenosis, Phimosis, Carious teeth, Urethral stenosis, Amniotic constric...	OMIM:173650
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Severe Form	Urethral stricture, Osteopenia, Flexion contracture, Gastrointestinal inflammation, Iron deficien...	ORPHA:79408
Mckusick-Kaufman Syndrome	Syndactyly, Hydroureter, Aganglionic megacolon, Congenital hip dislocation, Edema, Mesoaxial hand...	OMIM:236700
Congenital Tracheomalacia	Premature birth, Pneumonia, Esophageal atresia, Tracheobronchomalacia, Recurrent upper respirator...	ORPHA:95430
Mowat-Wilson Syndrome	Dental crowding, Urinary incontinence, Cleft hard palate, Asplenia, Gastrointestinal dysmotility,...	ORPHA:2152
Hydrolethalus Syndrome 1	Polyhydramnios, Abnormal lung lobation, Agenesis of corpus callosum, Accessory spleen, Hypospadia...	OMIM:236680
Alacrima, Achalasia, And Impaired Intellectual Development Syndrome	Esophageal stenosis, Prominent nose, Downturned corners of mouth, Short philtrum, Dysphagia, Acha...	OMIM:615510
Hemangiomas, Cavernous, Of Face And Supraumbilical Midline Raphe	Bifid sternum, Supraumbilical raphe	OMIM:140850
Dpagt1-Cdg	Elevated hepatic transaminase, Decreased fetal movement, Hepatomegaly, Arachnodactyly, Fetal akin...	ORPHA:86309
Alström Syndrome	Thoracic scoliosis, Abnormality of dental color, Urinary incontinence, Decreased response to grow...	ORPHA:64
Oligomeganephronia	Branchial cyst, Renal insufficiency, Pulmonary venous occlusion, Proteinuria, Premature birth, Un...	ORPHA:2260
Tracheoesophageal Fistula With Or Without Esophageal Atresia	Esophageal atresia, Tracheoesophageal fistula	OMIM:189960
Visceral Myopathy, Familial, With External Ophthalmoplegia	Spontaneous esophageal perforation	OMIM:277320
Renal Tubular Dysgenesis	Anuria, Microcephaly, Pulmonary hypoplasia, Widely patent fontanelles and sutures, Oligohydramnios	OMIM:267430
Cardiac-Urogenital Syndrome	Accessory spleen, Unilateral cryptorchidism, Intestinal malrotation, Tracheomalacia, Pericardial ...	OMIM:618280
Scimitar Syndrome	Recurrent respiratory infections, Abnormal lung morphology, Partial anomalous pulmonary venous re...	ORPHA:185
Meacham Syndrome	Accessory spleen, Congenital alveolar dysplasia, Partial anomalous pulmonary venous return, Horse...	OMIM:608978
Neurodegeneration And Seizures Due To Copper Transport Defect	Thickened nuchal skin fold, Short femur, Pneumothorax, Glandular hypospadias, Cerebral atrophy, P...	OMIM:620306
Renal Hypodysplasia/Aplasia 1	Pulmonary hypoplasia, Proteinuria, Oligohydramnios, Anhydramnios	OMIM:191830
Renal Agenesis	Renal insufficiency, Proteinuria, Unilateral renal agenesis, Ureteral agenesis, Pulmonary hypopla...	ORPHA:411709
Leiomyoma Of Vulva And Esophagus	Esophageal obstruction	OMIM:150700
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 2	Anuria, Ileal atresia, Peritonitis, Megacystis, Pyelonephritis, Pulmonary hypoplasia, Microcolon,...	OMIM:619351
Thoracoabdominal Syndrome	Hypospadias, Cleft upper lip, Anencephaly, Cleft palate, Pulmonary hypoplasia	OMIM:313850
Barrett Esophagus	Gastroesophageal reflux, Esophageal carcinoma, Barrett esophagus, Esophageal ulceration	OMIM:614266
Gastrointestinal Ulceration, Recurrent, With Dysfunctional Platelets	Iron deficiency anemia, Esophageal ulceration, Gastric ulcer, Duodenal ulcer	OMIM:618372
Truncus Arteriosus	Anomalous origin of one pulmonary artery from ascending aorta, Pulmonary artery stenosis, Abnorma...	ORPHA:3384
Absence Of The Pulmonary Artery	Recurrent respiratory infections, Recurrent pneumonia, Bronchiectasis, Pedal edema, Growth delay,...	ORPHA:980
Congenital Total Pulmonary Venous Return Anomaly	Low 5-minute APGAR score, Recurrent respiratory infections, Hepatomegaly, Pulmonary artery stenos...	ORPHA:99125
Abnormal Origin Of Right Or Left Pulmonary Artery From The Aorta	Recurrent respiratory infections, Aortopulmonary window, Pulmonary hypoplasia, Pulmonary artery a...	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

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MGI Allele	Allele Type	Produced
Wbp11^{tm1e(EUCOMM)Hmgu}	Targeted, non-conditional allele	ES Cells
Wbp11^{tm1a(EUCOMM)Hmgu}	KO first allele (reporter-tagged insertion with conditional potential)	Targeting vectors, ES Cells

Sequence

Guides

Sequence	Guide sequence	pam	chr	start	stop	strand	Genome build	gRNA Concentration	Truncated Guide	Reversed	Sanger service	Guide format	Guide source

Nucleases

Nuclease type	Nuclease class

Genotype primers

Sequence	Name

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