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Gene: Zfp366 MGI:2178429

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Not currently registered for phenotyping at IMPC

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

Gene Summary

Name:
zinc finger protein 366
Synonyms:
DC-SCRIPT

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 Zfp366 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.

No human diseases associated to this gene by orthology or annotation.

The table below shows human diseases predicted to be associated to Zfp366 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Gombo Syndrome
Abnormal heart morphology, Radial deviation of finger, Delayed puberty, Microphthalmia, Clinodact... OMIM:233270
Synpolydactyly 1
2nd-5th toe middle phalangeal hypoplasia, Finger syndactyly, Broad hallux, Mesoaxial hand polydac... OMIM:186000
Syndactyly Type 2
Mesoaxial polydactyly, Sandal gap, Camptodactyly of finger, 2-3 toe syndactyly, Symphalangism aff... ORPHA:93403
Polydactyly, Preaxial Ii
Syndactyly, Duplication of thumb phalanx, Opposable triphalangeal thumb, Preaxial hand polydactyl... OMIM:174500
Fallot Complex-Intellectual Disability-Growth Delay Syndrome
Overriding aorta, Single transverse palmar crease, Micrognathia, Cryptorchidism, Patent ductus ar... ORPHA:3304
Congenital Absence Of Upper Arm And Forearm With Hand Present
Syndactyly, Renal agenesis, Upper limb phocomelia, Abnormal heart morphology, Abnormal cardiac se... ORPHA:294975
Symphalangism With Multiple Anomalies Of Hands And Feet
Finger syndactyly, Small hypothenar eminence, Toe syndactyly, 2-5 finger cutaneous syndactyly, Ab... ORPHA:3246
Syndactyly, Type Iii
Absent middle phalanx of 5th finger, Syndactyly, 4-5 finger syndactyly, Short 5th finger OMIM:186100
Polydactyly, Postaxial, Type A1
Syndactyly, Preaxial hand polydactyly, Postaxial hand polydactyly, Postaxial foot polydactyly, Tr... OMIM:174200
Mmep Syndrome
Mandibular prognathia, Ventricular septal defect, Cryptorchidism, Split foot, Triphalangeal thumb... ORPHA:3434
Ring Chromosome 8 Syndrome
Anteverted nares, Abnormality of the ureter, Deviation of finger, Short nose, Hydronephrosis ORPHA:1450
Nephrosis-Deafness-Urinary Tract-Digital Malformations Syndrome
Broad hallux, Bifid distal phalanx of the thumb, Abnormal thumb morphology, Partial duplication o... ORPHA:2669
8P23.1 Duplication Syndrome
Wide nose, Toe syndactyly, Ventricular septal defect, Adrenal insufficiency, Pulmonic stenosis, T... ORPHA:251076
17Q21.31 Microduplication Syndrome
Toe syndactyly, Anteverted nares, Sandal gap, Micrognathia, Delayed puberty, Clinodactyly of the ... ORPHA:217340
Crossed Polysyndactyly
Finger syndactyly, Aplasia/Hypoplasia of the thumb, Hypoplasia of penis, Depressed nasal bridge, ... ORPHA:2935
Fetal Minoxidil Syndrome
Ventricular septal defect, Depressed nasal bridge, Micrognathia, Cryptorchidism, Clinodactyly of ... ORPHA:1918
Syndactyly Type 1
Finger syndactyly, Toe syndactyly, Symphalangism affecting the phalanges of the hand ORPHA:93402
Microphthalmia, Syndromic 12
Anophthalmia, Ventricular septal defect, Broad nasal tip, Micrognathia, Cryptorchidism, Hypoplast... OMIM:615524
Adams-Oliver Syndrome 4
Ventricular septal defect, Short toe, Patent ductus arteriosus, Absent middle phalanx of the 3rd ... OMIM:615297
Aortic Arch Anomaly-Facial Dysmorphism-Intellectual Disability Syndrome
Mandibular prognathia, Overriding aorta, Prominent nasal bridge, Carious teeth, Abnormal aortic a... ORPHA:1110
Bardet-Biedl Syndrome 19
Atrial septal defect, Renal insufficiency, Ventricular septal defect, Mesoaxial hand polydactyly,... OMIM:615996
Triphalangeal Thumb With Polysyndactyly
Finger syndactyly, Preaxial hand polydactyly, Postaxial hand polydactyly, Triphalangeal thumb, Br... OMIM:190605
Brachydactyly, Type A2
Hallux valgus, Triangular shaped middle phalanx of the 2nd finger, Broad hallux, Short hallux, Ul... OMIM:112600
Brachydactyly Type A7
Hallux valgus, Short 2nd finger, Sandal gap, Short hallux, Aplasia/Hypoplasia of the middle phala... ORPHA:93397
Bowen-Conradi Syndrome
Clinodactyly of the 5th finger, Micrognathia, Rocker bottom foot, Prominent nose OMIM:211180
Microphthalmia-Microtia-Fetal Akinesia Syndrome
Hypoplasia of penis, Hydroureter, Camptodactyly of finger, Abnormality of the upper urinary tract... ORPHA:2547
Hallux Varus And Preaxial Polysyndactyly
Preaxial hand polydactyly, Syndactyly, Broad hallux, Hallux varus OMIM:234280
2p15-16.1 microdeletion syndrome
Hydronephrosis, Optic disc hypoplasia, Camptodactyly of finger DECIPHER:70
Intellectual Disability-Spasticity-Ectrodactyly Syndrome
Finger syndactyly, Abnormality of the upper limb, Abnormal hip bone morphology, Clinodactyly of t... ORPHA:1891
Acitretin/Etretinate Embryopathy
Aplasia/hypoplasia involving bones of the lower limbs, Aplasia/Hypoplasia of the maxilla, Antever... ORPHA:40366
Noduli Cutanei, Multiple, With Urinary Tract Abnormalities
Duplicated collecting system, Hydronephrosis OMIM:163850
Lethal Congenital Contracture Syndrome 10
Overriding aorta, Ventricular septal defect, Cardiomegaly, Micrognathia, Femoral bowing, Short lo... OMIM:617022
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency
Metaphyseal chondrodysplasia, Lymphopenia, Hypoplasia of the thymus OMIM:200900
Pmp22-Rai1 Contiguous Gene Duplication Syndrome
Wide nose, Overriding aorta, Bicuspid aortic valve, Ventricular septal defect, Sandal gap, Abnorm... ORPHA:477817
Syndactyly, Type Iv
1-5 finger syndactyly, Postaxial polydactyly, 6 metacarpals, 2-3 toe syndactyly, Supernumerary me... OMIM:186200
14Q24.1Q24.3 Microdeletion Syndrome
Limited elbow extension and supination, Brachydactyly, Truncus arteriosus, Prominent nasal bridge... ORPHA:401935
Intellectual Developmental Disorder, X-Linked 91
Small hand, Short foot, Short 5th finger, Cubitus valgus, Clinodactyly, Short nose OMIM:300577
14Q11.2 Microdeletion Syndrome
Toe syndactyly, Ventricular septal defect, Depressed nasal bridge, Micrognathia, Patent ductus ar... ORPHA:261120
Syndactyly Type 5
Camptodactyly of finger, 2-3 toe syndactyly, Ulnar deviation of finger, Metacarpal synostosis, Cl... ORPHA:93406
Lymphedema, Cardiac Septal Defects, And Characteristic Facies
Overriding aorta, Ventricular septal defect, Depressed nasal bridge, Broad nasal tip, Patent duct... OMIM:601927
Hypogonadism With Low-Grade Mental Deficiency And Microcephaly
2-4 toe syndactyly, Syndactyly, Male hypogonadism OMIM:241000
Feingold Syndrome 2
Ventricular septal defect, Short middle phalanx of the 2nd finger, Short thumb, 2-3 toe syndactyl... OMIM:614326
Tetraploidy
Convex nasal ridge, Micrognathia, Renal hypoplasia/aplasia, Radial club hand, Hydronephrosis, Apl... ORPHA:3305
Wahab Syndrome
Syndactyly, Short metacarpal, Short thumb, Short foot, Short palm, Clinodactyly, Camptodactyly, A... OMIM:615170
Congenital Radioulnar Synostosis
Syndactyly, Abnormal morphology of the radius, Congenital hip dislocation, Abnormal morphology of... ORPHA:3269
Intellectual Developmental Disorder, Autosomal Recessive 33
Syndactyly, Short toe OMIM:614341
Radio-Ulnar Synostosis-Amegakaryocytic Thrombocytopenia Syndrome
Finger syndactyly, Amegakaryocytic thrombocytopenia, Radioulnar synostosis, Hip dysplasia, Clinod... ORPHA:71289
Ritscher-Schinzel Syndrome 1
Syndactyly, Depressed nasal bridge, Ventricular septal defect, Decreased response to growth hormo... OMIM:220210
Syndactyly Type 3
Finger syndactyly, Short toe, Camptodactyly of finger ORPHA:93404
Feingold Syndrome Type 2
Toe syndactyly, Ventricular septal defect, Short thumb, Short middle phalanx of finger, Brachydac... ORPHA:391646
Sonoda Syndrome
Ventricular septal defect, High axial triradius, Depressed nasal bridge OMIM:270460
Brachydactyly-Mesomelia-Intellectual Disability-Heart Defects Syndrome
Micrognathia, Abnormal shoulder morphology, Mesomelia, Abnormal mitral valve morphology, Convex n... ORPHA:1277
Image Syndrome
Metaphyseal dysplasia, Depressed nasal bridge, Hypospadias, Adrenal hypoplasia, Micromelia, Crypt... ORPHA:85173
Mesoaxial Synostotic Syndactyly With Phalangeal Reduction
Finger syndactyly, Toe syndactyly, Short hallux, Aplasia/Hypoplasia of the middle phalanges of th... ORPHA:157801
Apert Syndrome
Mandibular prognathia, Limited elbow movement, Delayed epiphyseal ossification, Cutaneous finger ... OMIM:101200
Split-Hand/Foot Malformation 4
Syndactyly, Aplasia/Hypoplasia of the phalanges of the hand, Split hand, Aplasia/Hypoplasia of th... OMIM:605289
Syndactyly, Mesoaxial Synostotic, With Phalangeal Reduction
Aplasia/Hypoplasia of the thumb, Single transverse palmar crease, Aplasia/Hypoplasia of the middl... OMIM:609432
Heart-Hand Syndrome, Slovenian Type
Syndactyly, Dilated cardiomyopathy, Aplasia of the middle phalanx of the hand, Clinodactyly, Brac... OMIM:610140
Polydactyly, Postaxial, Type A5
Syndactyly, Postaxial hand polydactyly, Cutaneous finger syndactyly, Metacarpal synostosis OMIM:263450
Larsen-Like Osseous Dysplasia-Short Stature Syndrome
Abnormal pelvic girdle bone morphology, Abnormal cardiac septum morphology, Hip dysplasia, Abnorm... ORPHA:2370
Non-Distal Duplication 10Q
Depressed nasal bridge, Micrognathia, Cryptorchidism, Abnormality of the urinary system, Short no... ORPHA:1695
Maxillonasal Dysplasia, Binder Type
Depressed nasal bridge, Dental malocclusion, Short columella, Short nose, Short distal phalanx of... OMIM:155050
Cleft Palate-Short Stature-Vertebral Anomalies Syndrome
Short nose, Anteverted nares, Micrognathia ORPHA:2015
Acrocephalopolydactyly
Abnormal renal morphology, Depressed nasal ridge, Hepatosplenomegaly, Short long bone, Limb under... ORPHA:221054
Frontonasal Dysplasia 1
Broad nasal tip, Bifid nasal tip, Hypoplasia of the maxilla, Postaxial hand polydactyly, Hypoplas... OMIM:136760
Cayler Cardiofacial Syndrome
Patent ductus arteriosus, Tetralogy of Fallot, Ventricular septal defect OMIM:125520
Fibulo-Ulnar Hypoplasia-Renal Anomalies Syndrome
Hypoplasia of the ulna, Finger syndactyly, Hypoplasia of penis, Ventricular septal defect, Depres... ORPHA:2256
Microphthalmia With Limb Anomalies
Anophthalmia, Single transverse palmar crease, 2-3 toe cutaneous syndactyly, Tibial bowing, Campt... OMIM:206920
Holoprosencephaly-Radial Heart Renal Anomalies Syndrome
Aplasia/Hypoplasia of the thumb, Hypoplasia of the ulna, Overriding aorta, Absent gallbladder, Mi... ORPHA:3186
Recombinant Chromosome 8 Syndrome
Depressed nasal bridge, Anteverted nares, Ventricular septal defect, Micrognathia, Cryptorchidism... OMIM:179613
Genitopalatocardiac Syndrome
Ventricular septal defect, Hypospadias, Micrognathia, Renal cyst, Right aortic arch, Transpositio... OMIM:231060
Camptosynpolydactyly, Complex
Syndactyly, Polydactyly, Camptodactyly, Cutaneous syndactyly OMIM:607539
Burn-Mckeown Syndrome
Prominent nasal bridge, Wide nasal bridge, Abnormal cardiac septum morphology, Short nose, Bilate... ORPHA:1200
Xk Aprosencephaly Syndrome
Abnormal morphology of the radius, Ventricular septal defect, Abnormal nostril morphology, Atrial... ORPHA:3469
Jawad Syndrome
Hallux valgus, Single interphalangeal crease of fifth finger, Postaxial polydactyly, Prominent no... OMIM:251255
Carpenter Syndrome 1
Duplication of the proximal phalanx of the hallux, Micrognathia, Hypoplasia of the maxilla, Clino... OMIM:201000
Megabladder, Congenital
Multiple glomerular cysts, Ventricular septal defect, Bicuspid aortic valve, Left ventricular non... OMIM:618719
22Q11.2 Duplication Syndrome
Wide nose, Ventricular septal defect, Micrognathia, Urethral stenosis, Depressed nasal ridge, Hyd... ORPHA:1727
Meckel Syndrome, Type 8
Anophthalmia, Pericardial effusion, Depressed nasal ridge, Polydactyly, Talipes equinovarus, Poly... OMIM:613885
Rhizomelic Dysplasia, Patterson-Lowry Type
Mandibular prognathia, Short humerus, Wide nose, Short metacarpal, Rhizomelia, Depressed nasal ri... ORPHA:2831
Temtamy Syndrome
Brachydactyly, Micrognathia, Short toe, Aortic aneurysm, Clinodactyly of the 5th finger, Micropht... ORPHA:1777
Orofaciodigital Syndrome Xv
Broad hallux, Anteverted nares, Postaxial hand polydactyly, Duplication of phalanx of hallux, Wid... OMIM:617127
Syndactyly Type 4
1-5 finger syndactyly, Toe syndactyly, Camptodactyly of finger, 6 metacarpals, Hand polydactyly, ... ORPHA:93405
Microphthalmia, Syndromic 9
Anophthalmia, Micrognathia, Atrial septal defect, Pulmonary artery atresia, Pelvic kidney, Single... OMIM:601186
Brachydactyly, Type B1
Type B brachydactyly, Syndactyly, Hypoplastic sacrum, Ventricular septal defect, Aplasia/Hypoplas... OMIM:113000
Congenital Hypotonia, Epilepsy, Developmental Delay, And Digital Anomalies
Prominent fingertip pads, Overlapping fingers, Ventricular septal defect, Overlapping toe, Unilat... OMIM:618494
Eng-Strom Syndrome
Abnormal cardiac septum morphology, Ventricular septal defect, Camptodactyly of finger, Brachydac... ORPHA:1937
Catel-Manzke Syndrome
Ventricular septal defect, Camptodactyly of finger, Metatarsus valgus, Micrognathia, Radial devia... ORPHA:1388
Nanophthalmos 1
Bilateral microphthalmos OMIM:600165
Microphthalmia, Isolated 7
Microphthalmia OMIM:613704
Nanophthalmos 2
Microphthalmia OMIM:609549
Mesomelia-Synostoses Syndrome
Brachydactyly, Micromelia, Abnormality of the hand, Abnormality of the humerus, Abnormal metacarp... ORPHA:2496
Bardet-Biedl Syndrome 5
Syndactyly, Hypogonadism, Polydactyly, Micropenis, Brachydactyly OMIM:615983
Hydrops, Lactic Acidosis, And Sideroblastic Anemia
Sideroblastic anemia, Extramedullary hematopoiesis, Overriding aorta, Ventricular septal defect, ... OMIM:617021
Split-Foot Malformation-Mesoaxial Polydactyly Syndrome
Aplasia/Hypoplasia of the phalanges of the 3rd toe, Mesoaxial foot polydactyly, 1-2 toe syndactyl... ORPHA:488232
Cerebrooculofacioskeletal Syndrome 3
Talipes equinovarus, Microphthalmia, Rocker bottom foot, Micrognathia OMIM:616570
Acromicric Dysplasia
Short metacarpal, Anteverted nares, Bulbous nose, Small hand, Abnormal femur morphology, Abnormal... ORPHA:969
Split-Hand/Foot Malformation 1
Syndactyly, Broad hallux, Split hand, Hand oligodactyly, Split foot, Foot oligodactyly, Ectrodact... OMIM:183600
Verheij Syndrome
Anteverted nares, Optic nerve hypoplasia, Truncus arteriosus, Broad nasal tip, Ventricular septal... OMIM:615583
Mesomelic Limb Shortening And Bowing
Camptodactyly of finger, Bowing of the legs, Micrognathia, Mesomelic arm shortening, Mesomelic le... OMIM:249710
Catel-Manzke Syndrome
Single transverse palmar crease, Micrognathia, Clinodactyly of the 5th finger, Short metacarpal, ... OMIM:616145
Tricuspid Atresia
Ventricular septal defect, Hypoplasia of right ventricle, Coarctation of aorta, Persistent left s... ORPHA:1209
Congenital Heart Defects, Multiple Types, 4
Ventricular septal defect, Coarctation of aorta, Hypoplastic left heart, Aortic valve stenosis, A... OMIM:615779
Cranioacrofacial Syndrome
Abnormal hand morphology, Dupuytren contracture, Ventricular septal defect, Pulmonic stenosis OMIM:122850
Diabetic Embryopathy
Ureteral duplication, Ventricular septal defect, Micrognathia, Renal hypoplasia/aplasia, Cryptorc... ORPHA:1926
Odontochondrodysplasia
Delayed eruption of teeth, Bowing of the long bones, Depressed nasal bridge, Micromelia, Coxa val... ORPHA:166272
Syndactyly, Type V
Brachydactyly, Camptodactyly of finger, 4-5 toe syndactyly, 4-5 metacarpal synostosis, Enlarged p... OMIM:186300
Fetal Trimethadione Syndrome
Depressed nasal bridge, Ventricular septal defect, Hypospadias, Micrognathia, Transposition of th... ORPHA:1913
Pallister-Hall Syndrome
Thyroid dysgenesis, Decreased circulating cortisol level, Decreased response to growth hormone st... OMIM:146510
Liebenberg Syndrome
Metaphyseal widening, Elbow flexion contracture, Abnormal carpal morphology, 2-3 finger syndactyl... OMIM:186550
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome
Bowing of the long bones, Rhizomelia, Ventricular septal defect, Proximal placement of thumb, Mic... ORPHA:93267
Split-Hand/Foot Malformation 6
Finger syndactyly, Toe syndactyly, Split hand, Hand oligodactyly, Split foot, Foot oligodactyly OMIM:225300
Craniosynostosis-Hydrocephalus-Arnold-Chiari Malformation Type I-Radioulnar Synostosis Syndrome
Bowing of the long bones, Toe syndactyly, Depressed nasal bridge, Anteverted nares, Hypospadias, ... ORPHA:171839
Renal Hypodysplasia/Aplasia 3
Renal dysplasia, Multicystic kidney dysplasia, Renal agenesis, Horseshoe kidney, Vesicoureteral r... OMIM:617805
Pentasomy X
Camptodactyly of finger, Micrognathia, Patent ductus arteriosus, Small hand, Wide nasal bridge, S... ORPHA:11
Fanconi Anemia, Complementation Group O
Proximal placement of thumb, Absent thumb, Short thumb, Cryptorchidism, Hypoplasia of the radius,... OMIM:613390
Acropectoral Syndrome
Preaxial hand polydactyly, Finger syndactyly ORPHA:85203
Craniofacial-Deafness-Hand Syndrome
Aplasia/Hypoplasia involving the nose, Ulnar deviation of the wrist, Depressed nasal bridge, Camp... ORPHA:1529
Ventricular Septal Defect 1
Ventricular septal defect, Pulmonic stenosis, Atrial septal defect, Atrioventricular canal defect... OMIM:614429
Autosomal Dominant Omodysplasia
Short humerus, Hypoplasia of penis, Rhizomelia, Depressed nasal bridge, Micrognathia, Elbow dislo... ORPHA:93328
Duane-Radial Ray Syndrome
Abnormal nasopharynx morphology, Optic disc hypoplasia, Preaxial polydactyly, Shoulder dislocatio... OMIM:607323
Temtamy Preaxial Brachydactyly Syndrome
Abnormally large globe, Micrognathia, Hypoplasia of the maxilla, Partial duplication of the proxi... ORPHA:363417
Chondrodysplasia With Joint Dislocations, Gpapp Type
Short metacarpal, Hitchhiker thumb, Micrognathia, Capitate-hamate fusion, Short toe, Limited elbo... OMIM:614078
Grange Syndrome
Syndactyly, Ventricular septal defect, Patent ductus arteriosus, Arterial stenosis, Short palm ORPHA:79094
Polydactyly, Preaxial Iv
Duplication of thumb phalanx, Preaxial polydactyly, Dysplastic distal thumb phalanges with a cent... OMIM:174700
Ectrodactyly-Polydactyly Syndrome
Finger syndactyly, Camptodactyly of finger, Postaxial hand polydactyly, Symphalangism affecting t... ORPHA:1892
Acrorenal Syndrome
Renal insufficiency, Abnormal morphology of ulna, Micrognathia, Renal hypoplasia/aplasia, Abnorma... ORPHA:971
Chromosome 2Q35 Duplication Syndrome
Distal symphalangism of hands, 3-4 finger syndactyly, 2-3 toe syndactyly, Cutaneous syndactyly OMIM:185900
Intellectual Developmental Disorder With Speech Delay And Dysmorphic Facies
Ventricular septal defect, Anteverted nares, Rocker bottom foot, Delayed eruption of permanent te... OMIM:618506
Brachydactyly-Syndactyly Syndrome
Syndactyly, Finger syndactyly, Camptodactyly, Short phalanx of finger, Short digit, Oligodactyly,... OMIM:610713
Congenital Primary Megaureter
Abnormal penis morphology, Recurrent urinary tract infections, Abnormality of the upper urinary t... ORPHA:617
Microphthalmia, Isolated 4
Microphthalmia, Absent testis, Postaxial polydactyly OMIM:613094
Feingold Syndrome Type 1
Micrognathia, Short middle phalanx of the 2nd finger, Vesicoureteral reflux, Clinodactyly of the ... ORPHA:391641
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome
Syndactyly, Ventricular septal defect, Depressed nasal bridge, Nephroblastoma, Polydactyly, Micro... OMIM:602501
Microcephaly, Facial Dysmorphism, Renal Agenesis, And Ambiguous Genitalia Syndrome
Crossed fused renal ectopia, Hypoplastic right heart, Ventricular septal defect, Depressed nasal ... OMIM:618142
Weyers Ulnar Ray/Oligodactyly Syndrome
Proximal placement of thumb, Absent thumb, Micrognathia, Hypoplasia of the radius, Hand oligodact... OMIM:602418
Seckel Syndrome 2
Hypospadias, Micrognathia, Prominent nose, Ectopic kidney, Clinodactyly of the 5th finger, Microp... OMIM:606744
Congenital Heart Defect-Round Face-Developmental Delay Syndrome
Depressed nasal ridge, Short nose, Anteverted nares, Hypospadias ORPHA:1355
Truncus Arteriosus
Abnormal coronary artery morphology, Anomalous origin of one pulmonary artery from ascending aort... ORPHA:3384
Spinal Muscular Atrophy With Mental Retardation
Syndactyly OMIM:271109
Distal Duplication 18Q
Hypoplasia of penis, Anteverted nares, Prominent nasal bridge, Choanal atresia, Arachnodactyly, C... ORPHA:1716
Chromosome 15Q26-Qter Deletion Syndrome
Hypospadias, Micrognathia, Cryptorchidism, Wide nasal bridge, Abnormal cardiac septum morphology,... OMIM:612626
Split-Foot Deformity With Mandibulofacial Dysostosis
Toe syndactyly, Micrognathia, Split hand, Split foot, Malar flattening OMIM:183700
Endove Syndrome, Limb-Only Type
Short middle phalanx of the 2nd finger, Fibular hypoplasia, Disproportionate shortening of the ti... OMIM:619217
Lethal Osteosclerotic Bone Dysplasia
Anteverted nares, Micrognathia, Depressed nasal ridge, Mandibular aplasia, Short nose, Retrognathia ORPHA:1832
Renal Caliceal Diverticuli-Deafness Syndrome
Hydroureter, Abnormality of the kidney, Abnormality of the upper urinary tract, Abnormality of th... ORPHA:2838
Mesoaxial Hexadactyly And Cardiac Malformation
Ventricular septal defect, Patent ductus arteriosus, Hand polydactyly, Pulmonic stenosis, Atrial ... OMIM:249670
Fallot Complex With Severe Mental And Growth Retardation
Double outlet right ventricle, Tetralogy of Fallot, Ventricular septal defect, Pulmonic stenosis OMIM:601127
Acrodysostosis 2 With Or Without Hormone Resistance
Mandibular prognathia, Short metacarpal, Diabetes mellitus, Depressed nasal bridge, Anteverted na... OMIM:614613
Pallister-Hall-Like Syndrome
Toe syndactyly, Depressed nasal bridge, Micromelia, Micrognathia, Postaxial hand polydactyly, Hip... OMIM:241800
Intellectual Developmental Disorder, Autosomal Recessive 79
Ventricular septal defect, Short hallux, Broad nasal tip, Long fingers, Wide nasal bridge, Clinod... OMIM:620393
Congenital Unilateral Hypoplasia Of Depressor Anguli Oris
Ventricular septal defect, Micrognathia, Renal hypoplasia/aplasia, Cryptorchidism, Abnormal aorti... ORPHA:1166
Hirschsprung Disease, Cardiac Defects, And Autonomic Dysfunction
Ventricular septal defect, Prominent nasal bridge, Tapered finger, Bulbous nose, Patent ductus ar... OMIM:613870
Craniosynostosis, Herrmann-Opitz Type
Finger syndactyly, Micromelia, Micrognathia, Abnormality of the urethra, Abnormality of the upper... ORPHA:2145
Heart Defects-Limb Shortening Syndrome
Atrial septal defect, Ventricular septal defect, Mesomelic/rhizomelic limb shortening, Abnormal t... ORPHA:1354
Megalencephaly-Polymicrogyria-Postaxial Polydactyly-Hydrocephalus Syndrome
Ventricular septal defect, Depressed nasal bridge, Abnormal nasal morphology, Postaxial hand poly... ORPHA:83473
3P25.3 Microdeletion Syndrome
Mandibular prognathia, Depressed nasal bridge, Anteverted nares, Ventricular septal defect, Promi... ORPHA:435638
Epiphyseal Dysplasia-Hearing Loss-Dysmorphism Syndrome
Finger syndactyly, Depressed nasal bridge, Anteverted nares, Proximal placement of thumb, Abnorma... ORPHA:1825
Brachydactyly Type B
Type B brachydactyly, Finger syndactyly, Short metacarpal, 2nd-5th toe middle phalangeal hypoplas... ORPHA:93383
Cat-Eye Syndrome
Renal hypoplasia/aplasia, Abnormal localization of kidney, Hip dysplasia, Microphthalmia, Hydrone... ORPHA:195
Moebius Syndrome
Syndactyly, Abnormal nasopharynx morphology, Brachydactyly, Depressed nasal bridge, Hypogonadotro... OMIM:157900
Reticular Dysgenesis
Leukopenia, Congenital agranulocytosis, Lymphopenia, Hypoplasia of the thymus OMIM:267500
Maxillonasal Dysplasia
Mandibular prognathia, Depressed nasal bridge, Aplasia/Hypoplasia of the distal phalanges of the ... ORPHA:1248
Potocki-Shaffer Syndrome
2-5 finger cutaneous syndactyly, Single transverse palmar crease, Underdeveloped nasal alae, Wide... OMIM:601224
Charlie M Syndrome
Finger syndactyly, Micrognathia, Split hand, Wide nasal bridge, Triphalangeal thumb, Abnormal met... ORPHA:1406
Tetrasomy 15Q26
Microretrognathia, Arachnodactyly, Patent ductus arteriosus, Hypoplastic aortic arch, Horseshoe k... OMIM:614846
3C Syndrome
Hypoplasia of penis, Adrenal hypoplasia, Micrognathia, Abnormal tricuspid valve morphology, Atria... ORPHA:7
Neurodevelopmental, Jaw, Eye, And Digital Syndrome
Mandibular prognathia, Sandal gap, Micrognathia, Lens coloboma, 2-3 toe syndactyly, Renal hypopla... OMIM:618914
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia
11 pairs of ribs, Rhizomelia, Metaphyseal cupping, Depressed nasal ridge, Metaphyseal cupping of ... OMIM:300863
Onychodystrophy, Osteodystrophy, Impaired Intellectual Development, And Seizures Syndrome
Anteverted nares, Micrognathia, Precocious puberty, Delayed eruption of permanent teeth, Short di... OMIM:619356
Czeizel-Losonci Syndrome
Hitchhiker thumb, Single transverse palmar crease, Dextrocardia, Micrognathia, 2-3 finger syndact... ORPHA:2437
Charge Syndrome
Anophthalmia, Abnormal palmar dermatoglyphics, Decreased response to growth hormone stimulation t... OMIM:214800
Woods Syndrome
Ventricular septal defect, Single transverse palmar crease, Supernumerary nipple, 3-4 finger cuta... OMIM:615236
Aphalangia, Partial, With Syndactyly And Duplication Of Metatarsal Iv
Aplasia/Hypoplasia of toe, Syndactyly, Duplication of metatarsal bones, Cutaneous finger syndactyly OMIM:600384
Adams-Oliver Syndrome 6
Syndactyly, Ventricular septal defect, Splenomegaly, Renal hypoplasia, Foot oligodactyly, Truncus... OMIM:616589
Zaki Syndrome
Wide nose, Toe syndactyly, Anteverted nares, Renal agenesis, Micrognathia, Long fingers, Patent d... OMIM:619648
Microphthalmia, Isolated, With Cataract 1
Microphthalmia OMIM:156850
Trisomy 1Q
Microretrognathia, Wide nose, Anophthalmia, Ventricular septal defect, Depressed nasal bridge, Ar... ORPHA:261344
Diabetes Insipidus, Neurohypophyseal
Wide nose, Decreased circulating osteocalcin level, Central diabetes insipidus, Short nose OMIM:125700
Stankiewicz-Isidor Syndrome
Ureteral duplication, Ventricular septal defect, Hypospadias, Prominent nose, Absent thumb, Short... OMIM:617516
Periventricular Nodular Heterotopia 7
Microretrognathia, Contracture of the proximal interphalangeal joint of the 2nd finger, Ventricul... OMIM:617201
Spondylometaphyseal Dysplasia With Corneal Dystrophy
Coarse metaphyseal trabecularization, Depressed nasal bridge, Anteverted nares, Metaphyseal widen... OMIM:618961
Holt-Oram Syndrome
Finger syndactyly, Ventricular septal defect, Down-sloping shoulders, Absent thumb, Abnormality o... ORPHA:392
Fibrochondrogenesis 2
Anteverted nares, Hypoplastic ischia, Micrognathia, Hypoplastic ilia, Metaphyseal widening, Hypop... OMIM:614524
Microcephaly-Cardiac Defect-Lung Malsegmentation Syndrome
Ventricular septal defect, Renal agenesis, Underdeveloped nasal alae, Micrognathia, Renal hypopla... ORPHA:2516
Wt Limb-Blood Syndrome
Pancytopenia, Ulnar deviation of the 3rd finger, Absent thumb, Micrognathia, Short thumb, Cryptor... OMIM:194350
Polysyndactyly With Cardiac Malformation
Syndactyly, Ventricular septal defect, Anteverted nares, Preaxial hand polydactyly, Duplication o... OMIM:263630
Santos Syndrome
Syndactyly, Postaxial polydactyly, Metatarsus adductus, Preaxial polydactyly, Genu valgum, Polyda... OMIM:613005
Cenani-Lenz Syndactyly Syndrome
Syndactyly, Hypoplasia of the ulna, Broad hallux, Renal agenesis, Micrognathia, Ectopic kidney, H... OMIM:212780
Prominent Glabella-Microcephaly-Hypogenitalism Syndrome
Brachydactyly, Hypoplasia of penis, Prominent nasal bridge, Camptodactyly of finger, Underdevelop... ORPHA:2083
Microcephaly, Congenital Heart Disease, Unilateral Renal Agenesis, And Hyposegmented Lungs
Ventricular septal defect, Unilateral renal agenesis, Underdeveloped nasal alae, Truncus arterios... OMIM:601355
Rhiny
Short nose, Anteverted nares OMIM:180360
Brachydactyly Type B2
Type B brachydactyly, Finger syndactyly, Short toe, Symphalangism affecting the phalanges of the ... ORPHA:140908
Mosaic Trisomy 1
Single transverse palmar crease, Renal cyst, Finger clinodactyly, Pulmonary artery atresia, Micro... ORPHA:1692
Cofs Syndrome
Camptodactyly of finger, Micrognathia, Abnormal nasal morphology, Wide nasal bridge, Hypogonadism... ORPHA:1466
Intellectual Developmental Disorder With Cardiac Defects And Dysmorphic Facies
Long toe, Depressed nasal bridge, Anteverted nares, Parachute mitral valve, Prominent nose, Ventr... OMIM:618316
Bardet-Biedl Syndrome 4
Syndactyly, Abnormality of the kidney, Cryptorchidism, Renal cyst, Hypogonadism, Polydactyly, Bra... OMIM:615982
Congenital Anomalies Of Kidney And Urinary Tract 3
Multicystic kidney dysplasia, Ectopic kidney, Renal hypoplasia, Vesicoureteral reflux, Hydronephr... OMIM:618270
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type
Rhizomelia, Micrognathia, Hypoplastic iliac wing, Metaphyseal chondrodysplasia, Abnormality of th... ORPHA:163966
Nephrotic Syndrome, Type 11
Diffuse mesangial sclerosis, Arachnodactyly, Ventricular septal defect, Proteinuria, Micrognathia... OMIM:616730
Cleft-Limb-Heart Malformation Syndrome
Syndactyly, Truncus arteriosus OMIM:215850
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type
Short femur, Anteverted nares, Ventricular septal defect, Fractured radius, Cardiomegaly, Decreas... OMIM:616897
Mckusick-Kaufman Syndrome
Urethral stricture, Finger syndactyly, Multicystic kidney dysplasia, Ventricular septal defect, T... ORPHA:2473
Pierpont Syndrome
Wide nose, Broad nasal tip, Cryptorchidism, Short toe, Broad palm, Micropenis, Short foot, Deep p... OMIM:602342
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 3
Syndactyly, Postaxial hand polydactyly OMIM:615938
Microcephaly And Chorioretinopathy, Autosomal Recessive, 3
Microphthalmia OMIM:616335
Pulmonary Atresia With Ventricular Septal Defect
Pulmonary artery atresia, Ventricular septal defect OMIM:178370
Codas Syndrome
Delayed eruption of teeth, Short metacarpal, Congenital hip dislocation, Ventricular septal defec... ORPHA:1458
Rubinstein-Taybi Syndrome 2
Syndactyly, Broad hallux, Prominent nose, Micrognathia, Carious teeth, Talon cusp, Dental maloccl... OMIM:613684
Craniodigital-Intellectual Disability Syndrome
Narrow nasal bridge, Finger syndactyly, Short nose, Micrognathia ORPHA:1514
16P13.11 Microduplication Syndrome
Arachnodactyly, Ventricular septal defect, Coarctation of aorta, Hand polydactyly, Transposition ... ORPHA:261243
Toluene Embryopathy
Micrognathia, Tapered finger, Cryptorchidism, Abnormal localization of kidney, Hypoplasia of the ... ORPHA:1920
Prune Belly Syndrome With Pulmonic Stenosis, Mental Retardation, And Deafness
Hydroureter, Hydronephrosis, Pulmonic stenosis OMIM:264140
Char Syndrome
Mesoaxial foot polydactyly, Ventricular septal defect, Depressed nasal bridge, Toe syndactyly, Me... ORPHA:46627
Indomethacin Embryofetopathy
Renal insufficiency, Multicystic kidney dysplasia, Ventricular septal defect, Cardiomyopathy, Atr... ORPHA:1909
Otopalatodigital Syndrome, Type I
Abnormality of the fifth metatarsal bone, Absent frontal sinuses, Femoral bowing, Broad distal ph... OMIM:311300
Braddock-Carey Syndrome 2
Bulbous nose, Microphthalmia, Clinodactyly, Retrognathia, Thrombocytopenia OMIM:619981
Desbuquois Dysplasia 1
Triangular shaped phalanges of the hand, Metaphyseal widening, Short metatarsal, Coxa vara, Genu ... OMIM:251450
Heterotaxy, Visceral, 4, Autosomal
Ventricular septal defect, Dextrocardia, Complete atrioventricular canal defect, Dextrotransposit... OMIM:613751
Split-Hand/Foot Malformation 2
Finger syndactyly, Short metacarpal, Split hand, Split foot, Short phalanx of finger OMIM:313350
Terminal Osseous Dysplasia-Pigmentary Defects Syndrome
Syndactyly, Osteolysis involving bones of the upper limbs, Depressed nasal tip, Osteolysis involv... ORPHA:88630
Autosomal Recessive Omodysplasia
Abnormal morphology of the radius, Depressed nasal bridge, Anteverted nares, Micromelia, Rhizomel... ORPHA:93329
Brachydactyly, Coloboma, And Anterior Segment Dysgenesis
Clinodactyly, Microphthalmia, Brachydactyly, Syndactyly OMIM:610023
Acrodysostosis
Mandibular prognathia, Micromelia, Hypoplasia of the maxilla, Depressed nasal ridge, Short metata... ORPHA:950
Congenital Hemidysplasia With Ichthyosiform Erythroderma And Limb Defects
2-5 finger syndactyly, Congenital hip dislocation, Single transverse palmar crease, Adrenal hypop... OMIM:308050
Filippi Syndrome
Ventricular septal defect, Single transverse palmar crease, Underdeveloped nasal alae, 2-4 toe sy... OMIM:272440
Biemond Syndrome Type 2
Hypogonadotropic hypogonadism, Hypospadias, Preaxial polydactyly, Hypogonadism, Delayed puberty, ... ORPHA:141333
Edinburgh Malformation Syndrome
Anteverted nares, Choanal atresia, Micrognathia, Long fingers, Ulnar deviation of finger, Short n... ORPHA:1895
Burn-Mckeown Syndrome
Mandibular prognathia, Ventricular septal defect, Prominent nasal bridge, Choanal atresia, Underd... OMIM:608572
Short Stature-Wormian Bones-Dextrocardia Syndrome
Delayed eruption of teeth, Dextrocardia, Camptodactyly of finger, Micrognathia, Renal hypoplasia/... ORPHA:2863
Holt-Oram Syndrome
Secundum atrial septal defect, Aplasia of the pectoralis major muscle, Abnormal carpal morphology... OMIM:142900
C Syndrome
Short metacarpal, Toe syndactyly, Ventricular septal defect, Anteverted nares, Micromelia, Microg... OMIM:211750
Fraser Syndrome 2
Wide nose, Renal agenesis, Unilateral renal agenesis, Underdeveloped nasal alae, Renal hypoplasia... OMIM:617666
Linear Skin Defects With Multiple Congenital Anomalies 2
Ventricular hypertrophy, Sandal gap, Atrial septal defect, Microphthalmia, Short nose, Tetralogy ... OMIM:300887
Frontometaphyseal Dysplasia 1
Limited elbow movement, Absent frontal sinuses, Increased density of long bone diaphyses, Antegon... OMIM:305620
Thrombocytopenia-Absent Radius Syndrome
Micrognathia, Axial malrotation of the kidney, Clinodactyly of the 5th finger, Phocomelia, Genu v... ORPHA:3320
Brachydactyly-Preaxial Hallux Varus Syndrome
Short metacarpal, Micrognathia, Preaxial hand polydactyly, Radial club hand, Short metatarsal, Wi... ORPHA:1278
Intellectual Developmental Disorder With Language Impairment And With Or Without Autistic Features
Broad nasal tip, Enuresis, Malar flattening, Short nose, Retrognathia OMIM:613670
Suleiman-El-Hattab Syndrome
Microretrognathia, Ventricular septal defect, Single transverse palmar crease, Cryptorchidism, Wi... OMIM:618950
6P22 Microdeletion Syndrome
Patent ductus arteriosus, Finger syndactyly, Clinodactyly, Hydronephrosis ORPHA:251046
Sclerosteosis
Finger syndactyly, Craniofacial hyperostosis, Abnormality of the nose, 2-3 finger syndactyly, Cur... ORPHA:3152
1Q21.1 Microdeletion Syndrome
Broad hallux phalanx, Toe syndactyly, Cryptorchidism, Bulbous nose, Patent ductus arteriosus, Wid... ORPHA:250989
Neutropenia, Severe Congenital, 4, Autosomal Recessive
Single transverse palmar crease, Secundum atrial septal defect, Leukopenia, Hypoplasia of the thy... OMIM:612541
Femoral-Facial Syndrome
Short femur, Maternal diabetes, Micrognathia, Renal hypoplasia/aplasia, Cryptorchidism, Long peni... ORPHA:1988
Beaulieu-Boycott-Innes Syndrome
Recurrent urinary tract infections, Ventricular septal defect, Unilateral renal agenesis, Microgn... OMIM:613680
Pelvis-Shoulder Dysplasia
Syndactyly, Aplasia/Hypoplasia of the ribs, Aplasia/Hypoplasia of the clavicles, Camptodactyly of... ORPHA:2839
Multinucleated Neurons, Anhydramnios, Renal Dysplasia, Cerebellar Hypoplasia, And Hydranencephaly
Microretrognathia, Anteverted nares, Single transverse palmar crease, Narrow nasal ridge, Bulbous... OMIM:236500
Ectodermal Dysplasia, Ectrodactyly, And Macular Dystrophy Syndrome
2-4 finger syndactyly, 1-4 finger syndactyly, Split hand, 2-3 finger syndactyly, Camptodactyly, J... OMIM:225280
Trisomy 13
Anophthalmia, Ventricular septal defect, Displacement of the urethral meatus, Cryptorchidism, Pos... ORPHA:3378
2Q24 Microdeletion Syndrome
Toe syndactyly, Camptodactyly of finger, Long fingers, Bullet-shaped distal phalanx of the hallux... ORPHA:1617
8P23.1 Microdeletion Syndrome
Broad hallux phalanx, Hypospadias, Prominent nasal bridge, Proximal placement of thumb, Tapered f... ORPHA:251071
15Q11Q13 Microduplication Syndrome
Clinodactyly of the 5th finger, Finger syndactyly ORPHA:238446
Laurin-Sandrow Syndrome
Aplasia/Hypoplasia of the thumb, Finger syndactyly, Toe syndactyly, Tarsal synostosis, Underdevel... ORPHA:2378
Hennekam Lymphangiectasia-Lymphedema Syndrome 1
Ectopic kidney, Conical incisor, Cutaneous finger syndactyly, Short palm, Hypoplastic iliac wing,... OMIM:235510
16P12.1P12.3 Triplication Syndrome
Hallux valgus, Prominent fingertip pads, Decreased response to growth hormone stimulation test, T... ORPHA:485405
Peroxisome Biogenesis Disorder 2A (Zellweger)
Single transverse palmar crease, Micrognathia, Metatarsus adductus, Cryptorchidism, Abnormal hear... OMIM:214110
Microphthalmia, Isolated, With Coloboma 6
Hypoplasia of the fovea, Bilateral microphthalmos, Optic disc hypoplasia OMIM:613703
Diamond-Blackfan Anemia 6
Ventricular hypertrophy, Macrocytic anemia, Ventricular septal defect, Micrognathia, Short thumb,... OMIM:612561
Brachydactyly-Syndactyly, Zhao Type
Hallux valgus, Toe syndactyly, Short fifth metatarsal, Short middle phalanx of the 2nd finger, Sy... ORPHA:93409
Melnick-Needles Syndrome
Delayed eruption of teeth, Craniofacial hyperostosis, Bowing of the long bones, Coxa valga, Micro... ORPHA:2484
Sandestig-Stefanova Syndrome
Rocker bottom foot, Muscular ventricular septal defect, Wide nasal bridge, Perimembranous ventric... OMIM:618804
Multiple Epiphyseal Dysplasia, Al-Gazali Type
Delayed epiphyseal ossification, Wide nasal bridge, Genu valgum, Cutaneous syndactyly, Clinodacty... ORPHA:166024
Teebi-Shaltout Syndrome
Syndactyly, Ulnar deviation of the hand, Ventricular septal defect, Single transverse palmar crea... OMIM:272950
Intellectual Disability-Facial Dysmorphism-Hand Anomalies Syndrome
Brachydactyly, Single transverse palmar crease, Broad nasal tip, Bifid distal phalanx of the thum... ORPHA:370010
Desbuquois Syndrome
Ventricular septal defect, Depressed nasal bridge, Anteverted nares, Camptodactyly of finger, Elb... ORPHA:1425
Oculofaciocardiodental Syndrome
Delayed eruption of teeth, Prominent nasal bridge, Bifid nasal tip, Short thumb, Cubitus valgus, ... ORPHA:2712
Radioulnar Synostosis-Microcephaly-Scoliosis Syndrome
Clinodactyly of the 5th finger, Finger syndactyly, Radioulnar synostosis, Abnormality of the elbow ORPHA:3268
Neurodevelopmental Disorder With Dysmorphic Facies And Skeletal And Brain Abnormalities
Micrognathia, Short palm, Clinodactyly of the 5th finger, Micropenis, Depressed nasal bridge, Bro... OMIM:620073
Tarp Syndrome
Anteverted nares, Single transverse palmar crease, Rocker bottom foot, Postaxial polydactyly, Mic... OMIM:311900
Toe Syndactyly, Telecanthus, And Anogenital And Renal Malformations
Bicuspid aortic valve, Single transverse palmar crease, 3-5 toe syndactyly, Vesicoureteral reflux... OMIM:300707
Femur-Fibula-Ulna Complex
Short humerus, Finger syndactyly, Abnormal morphology of ulna, Micromelia, Humeroradial synostosi... ORPHA:2019
Pde4D Haploinsufficiency Syndrome
Mandibular prognathia, Prominent nose, Micrognathia, Hypoplasia of the maxilla, Short metatarsal,... ORPHA:439822
Intellectual Disability-Severe Speech Delay-Mild Dysmorphism Syndrome
Mandibular prognathia, Diabetes mellitus, Single transverse palmar crease, Abnormality of the kid... ORPHA:391372
Genitopatellar Syndrome
Delayed eruption of teeth, Hip contracture, Wide nose, Multicystic kidney dysplasia, Prominent na... ORPHA:85201
Basel-Vanagaite-Smirin-Yosef Syndrome
Mandibular prognathia, Single transverse palmar crease, Male urethral meatus stenosis, Atrial sep... ORPHA:464738
Neurooculocardiogenitourinary Syndrome
Ventricular septal defect, Prominent nasal bridge, Cardiomegaly, Bilateral cryptorchidism, Patent... OMIM:618652
Carpenter Syndrome
Syndactyly, Finger syndactyly, Toe syndactyly, Cryptorchidism, Postaxial hand polydactyly, Patent... ORPHA:65759
Congenital Heart Defects, Multiple Types, 6
Ventricular septal defect, Hypoplastic pulmonary veins, Secundum atrial septal defect, Complete a... OMIM:613854
Macdermot-Winter Syndrome
Hydronephrosis, Camptodactyly of finger OMIM:247990
Perlman Syndrome
Hypoplasia of penis, Anteverted nares, Nephroblastoma, Micrognathia, Cryptorchidism, Hyperinsulin... ORPHA:2849
Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts
Ventricular septal defect, Ectopic kidney, Cryptorchidism, Microphthalmia, Cystic renal dysplasia OMIM:613730
Fanconi Anemia, Complementation Group G
Abnormal thumb morphology, Thrombocytopenia, Neutropenia, Microphthalmia, Leukemia, Anemia OMIM:614082
Pfeiffer Syndrome
Mandibular prognathia, Syndactyly, Finger syndactyly, Shortening of all middle phalanges of the f... OMIM:101600
Spondyloepiphyseal Dysplasia, Nishimura Type
Delayed epiphyseal ossification, Small hand, Cone-shaped epiphysis, Short nose, Brachydactyly OMIM:618618
Microcephaly And Chorioretinopathy, Autosomal Recessive, 2
Microphthalmia, Micrognathia, Talipes equinovarus, Prominent nose OMIM:616171
Joubert Syndrome 37
Wide nose, Anteverted nares, Postaxial polydactyly, Cryptorchidism, Wide nasal bridge, Hydronephr... OMIM:619185
Congenital Myopathy 19
Micrognathia, Cryptorchidism, Renal atrophy, Depressed nasal ridge, Hydronephrosis OMIM:618578
Microphthalmia With Limb Anomalies
Micrognathia, Hypoplasia of the maxilla, Venous insufficiency, Tibial bowing, Camptodactyly of 2n... ORPHA:1106
Acropectorovertebral Dysplasia
Finger syndactyly, Toe syndactyly, Bifid distal phalanx of the thumb, Capitate-hamate fusion, Sho... OMIM:102510
Roifman Syndrome
Noncompaction cardiomyopathy, Short metacarpal, Hip contracture, Ventricular septal defect, Antev... OMIM:616651
Rhizomelic Limb Shortening With Dysmorphic Features
Hyperextensibility of the finger joints, Rhizomelia, Single transverse palmar crease, Micrognathi... OMIM:618821
Mosaic Trisomy 9
Hypoplasia of penis, Micromelia, Micrognathia, Asplenia, Finger clinodactyly, Endocardial fibroel... ORPHA:99776
Fibular Aplasia Or Hypoplasia, Femoral Bowing And Poly-, Syn-, And Oligodactyly
Congenital hip dislocation, Abnormal finger flexion crease, Aplasia/Hypoplasia of the 5th finger,... OMIM:228930
Cenani-Lenz Syndrome
Hypoplasia of the ulna, Finger syndactyly, Toe syndactyly, Crossed fused renal ectopia, Abnormal ... ORPHA:3258
Galloway-Mowat Syndrome 7
Hallux valgus, Diffuse mesangial sclerosis, Arachnodactyly, Ventricular septal defect, Single tra... OMIM:618348
Congenital Heart Defects, Multiple Types, 5
Bicuspid aortic valve, Ventricular septal defect, Dilated cardiomyopathy, Aortic valve stenosis, ... OMIM:617912
Lethal Congenital Contracture Syndrome 2
Dilated cardiomyopathy, Ventricular septal defect, Hydronephrosis, Micrognathia OMIM:607598
Hamel Cerebro-Palato-Cardiac Syndrome
Arachnodactyly, Micrognathia, Bulbous nose, Wide nasal bridge, Atrial septal defect, Malar flatte... ORPHA:93946
Congenital Megacalycosis
Recurrent urinary tract infections, Nephrolithiasis, Renal cyst, Hematuria, Tubulointerstitial ne... ORPHA:93109
Rhizomelic Syndrome
Rhizomelia, Bifid distal phalanx of the thumb, Micrognathia, Hip dislocation, Pulmonic stenosis, ... OMIM:268250
Trisomy 12P
Supernumerary nipple, Micrognathia, Wide nasal bridge, Aplasia/Hypoplasia of the iris, Large hand... ORPHA:1699
Microcephaly-Microcornea Syndrome, Seemanova Type
Microphthalmia, Retrognathia, Hypogonadism ORPHA:2528
Greig Cephalopolysyndactyly Syndrome
Finger syndactyly, Broad hallux phalanx, Toe syndactyly, Preaxial hand polydactyly, Postaxial han... ORPHA:380
Brachytelephalangy-Dysmorphism-Kallmann Syndrome
Brachydactyly, Hypoplasia of penis, Hypogonadotropic hypogonadism, Anosmia, Genu valgum, Hypoplas... ORPHA:1295
Microphthalmia-Ankyloblepharon-Intellectual Disability Syndrome
Microphthalmia, Anophthalmia ORPHA:85275
Cerebrooculofacioskeletal Syndrome 2
Rocker bottom foot, Camptodactyly of finger, Prominent nose, Micrognathia, Microphthalmia, Microp... OMIM:610756
Summitt Syndrome
Finger syndactyly, Wide nose, Camptodactyly of finger, Depressed nasal ridge, Genu valgum, Short ... ORPHA:3210
Spondyloepiphyseal Dysplasia-Craniosynostosis-Cleft Palate-Cataracts-Intellectual Disability Syndrome
Depressed nasal bridge, Anteverted nares, Coxa valga, Micrognathia, Abnormality of the elbow, Fla... ORPHA:163649
Terminal Osseous Dysplasia
Syndactyly, Camptodactyly of finger, Abnormal hand bone ossification, Short toe, Mesomelic arm sh... OMIM:300244
Congenital Anomalies Of Kidney And Urinary Tract 2
Renal dysplasia, Renal insufficiency, Hydroureter, Renal hypoplasia, Congenital megaureter, Urete... OMIM:143400
Neurodevelopmental Disorder With Central Hypotonia And Dysmorphic Facies
Delayed eruption of teeth, Hyperextensibility of the finger joints, Congenital hip dislocation, C... OMIM:619797
Teebi Hypertelorism Syndrome 2
Delayed eruption of teeth, Syndactyly, Depressed nasal bridge, Hypospadias, Broad nasal tip, Clin... OMIM:619736
Kury-Isidor Syndrome
Finger syndactyly, Ventricular septal defect, Anteverted nares, Proximal placement of thumb, Rock... OMIM:619762
Kapur-Toriello Syndrome
Overlapping fingers, Ventricular septal defect, Single transverse palmar crease, Bilateral single... OMIM:244300
Even-Plus Syndrome
Epiphyseal dysplasia, Recurrent urinary tract infections, Bifid nasal tip, Depressed nasal ridge,... OMIM:616854
Subaortic Stenosis-Short Stature Syndrome
Anteverted nares, Bilateral single transverse palmar creases, Micrognathia, Membranous subvalvula... ORPHA:3191
Posterior Urethral Valve
Renal insufficiency, Recurrent urinary tract infections, Urinary incontinence, Dysuria, Abnormal ... ORPHA:93110
Congenital Heart Defects, Hamartomas Of Tongue, And Polysyndactyly
Broad hallux, Complete atrioventricular canal defect, Postaxial hand polydactyly, 2-3 finger synd... OMIM:217085
Joubert Syndrome 18
Bowing of the long bones, Trident pelvis, Ventricular septal defect, Postaxial polydactyly, Renal... OMIM:614815
Pfeiffer Syndrome Type 1
Aplasia/Hypoplasia of the thumb, Finger syndactyly, Broad hallux phalanx, Depressed nasal bridge,... ORPHA:93258
Congenital Rubella Syndrome
Ventricular septal defect, Thrombocytopenia, Patent ductus arteriosus, Splenomegaly, Aplasia/Hypo... ORPHA:290
Developmental Delay With Variable Neurologic And Brain Abnormalities
Wide nose, Anteverted nares, Down-sloping shoulders, Micrognathia, Camptodactyly, Microphthalmia,... OMIM:619694
Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency
Mandibular prognathia, Syndactyly, Depressed nasal bridge, Ventricular septal defect, Abnormality... ORPHA:369891
Brachydactyly, Type B2
Tarsal synostosis, Proximal placement of thumb, Aplasia/Hypoplasia of the distal phalanges of the... OMIM:611377
Immunodeficiency, Common Variable, 6
Glomerulonephritis, Autoimmune thrombocytopenia, Stage 5 chronic kidney disease, Mesangial Immune... OMIM:613496
Skeletal Dysplasia, Mild, With Joint Laxity And Advanced Bone Age
Microretrognathia, Scapular winging, Depressed nasal bridge, Anteverted nares, Ventricular septal... OMIM:618870
Vacterl Association, X-Linked, With Or Without Hydrocephalus
Short humerus, Dextrocardia, Proximal placement of thumb, Absent radius, Urethral atresia, Hand p... OMIM:314390
Craniofacioskeletal Syndrome
Absent gallbladder, Ventricular septal defect, Choanal atresia, Hypospadias, Micrognathia, Crypto... OMIM:300712
Chondrodysplasia Punctata 1, X-Linked Recessive
Depressed nasal bridge, Anosmia, Epiphyseal stippling, Hypogonadism, Short nose, Short nasal sept... OMIM:302950
Robinow Syndrome, Autosomal Recessive 2
Bicuspid aortic valve, Anteverted nares, Broad hallux, Broad nasal tip, Sandal gap, Micrognathia,... OMIM:618529
Pfeiffer Syndrome Type 3
Finger syndactyly, Broad hallux phalanx, Toe syndactyly, Depressed nasal bridge, Choanal atresia,... ORPHA:93260
Fanconi Anemia, Complementation Group I
Ventricular septal defect, Optic nerve hypoplasia, Decreased response to growth hormone stimulati... OMIM:609053
17P13.3 Microduplication Syndrome
Wide nose, Congenital hip dislocation, Hypoplasia of penis, Clinodactyly of the 5th finger, Short... ORPHA:217385
Trisomy 17P
Wide nose, Hypoplasia of penis, Urethral valve, Prominent nose, Tapered finger, Micrognathia, Pat... ORPHA:261290
Laurin-Sandrow Syndrome
Syndactyly, Underdeveloped nasal alae, Absent radius, Patellar aplasia, Short foot, Hand polydact... OMIM:135750
Baller-Gerold Syndrome
Narrow nasal bridge, Aplasia/Hypoplasia of the thumb, Bowing of the long bones, Prominent nasal b... ORPHA:1225
Monosomy 5P
Microretrognathia, Finger syndactyly, Small hand, Wide nasal bridge ORPHA:281
Ruvalcaba Syndrome
Short metacarpal, Brachydactyly, Proximal placement of thumb, Micromelia, Cryptorchidism, Abnorma... ORPHA:3121
Ring Chromosome 10 Syndrome
Sandal gap, Micrognathia, Tapered finger, Renal hypoplasia/aplasia, Wide nasal bridge, Microphtha... ORPHA:1438
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia
Hypoplastic pubic ramus, Proximal placement of thumb, Micrognathia, Short metatarsal, Patellar hy... OMIM:609945
Peho-Like Syndrome
Short nose, Retrognathia, Tapered finger OMIM:617507
Immunodeficiency 42
Splenomegaly, Hypoplasia of the thymus OMIM:616622
Lung Disease, Immunodeficiency, And Chromosome Breakage Syndrome
Decreased proportion of CD8-positive T cells, Hypoplasia of the thymus, Decreased proportion of C... OMIM:617241
Cutis Laxa, Autosomal Recessive, Type Ic
Accessory spleen, Peripheral pulmonary artery stenosis, Sandal gap, Single transverse palmar crea... OMIM:613177
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy
Impaired lymphocyte transformation with phytohemagglutinin, Pericardial effusion, T lymphocytopen... OMIM:619313
Teebi Hypertelorism Syndrome 1
Natal tooth, Depressed nasal bridge, Anteverted nares, Ventricular septal defect, Micrognathia, S... OMIM:145420
Lethal Hemolytic Anemia-Genital Anomalies Syndrome
Hypoplasia of penis, Sandal gap, Hypospadias, Micrognathia, Renal hypoplasia/aplasia, Splenomegal... ORPHA:1046
Neurodevelopmental Disorder With Structural Brain Anomalies And Dysmorphic Facies
Anteverted nares, Ulnar deviation of the wrist, Micrognathia, Cryptorchidism, Wide nasal bridge, ... OMIM:618577
Nemaline Myopathy 9
Ventricular septal defect, Micrognathia OMIM:615731
Otopalatodigital Syndrome Type 2
Micrognathia, Preaxial polydactyly, Short palm, Synostosis of carpal bones, Depressed nasal bridg... ORPHA:90652
Split hand/foot malformation 1 (SHFM1)
Toe syndactyly, Split hand, 2-3 toe syndactyly, Cutaneous finger syndactyly, Split foot, Abnormal... DECIPHER:46
Ritscher-Schinzel Syndrome 3
Hypoplasia of the ulna, Anteverted nares, Micrognathia, Cryptorchidism, Ulnar bowing, Shortening ... OMIM:619135
Microcephaly-Capillary Malformation Syndrome
Wide nose, Brachydactyly, Ventricular septal defect, Hypoplasia of the maxilla, Clinodactyly, Ves... OMIM:614261
Stevenson-Carey Syndrome
Prominent nasal tip, Recurrent urinary tract infections, Anteverted nares, Underdeveloped nasal a... OMIM:611961
Microphthalmia, Isolated, With Coloboma 4
Microphthalmia OMIM:251505
Miller-Dieker Syndrome
Clinodactyly of the 5th finger, Nephropathy, Short nose, Anteverted nares ORPHA:531
Distal Duplication 5Q
Hypoplasia of the ulna, Ventricular septal defect, Dextrocardia, Prominent nasal bridge, Absent t... ORPHA:96097
Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked
Leukopenia, Vesicoureteral reflux, Pulmonary artery atresia, Micropenis, Hypospadias, Cryptorchid... OMIM:301056
Distal Triplication 15Q
Arachnodactyly, Abnormality of the kidney, Micrognathia, Patent ductus arteriosus, Hypoplastic ao... ORPHA:314588
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 3
Depressed nasal bridge, Hypospadias, Cryptorchidism, Polydactyly, Short nose, Hypoplastic ischia OMIM:616910
Eec Syndrome
Aplasia/Hypoplasia of the thumb, Finger syndactyly, Toe syndactyly, Hypospadias, Choanal atresia,... ORPHA:1896
Autosomal Dominant Intellectual Disability-Craniofacial Anomalies-Cardiac Defects Syndrome
Microretrognathia, Ventricular septal defect, Prominent nasal bridge, Broad nasal tip, Cryptorchi... ORPHA:457193
Vitamin K Antagonist Embryofetopathy
Brachydactyly, Depressed nasal bridge, Anteverted nares, Choanal atresia, Epiphyseal stippling, S... ORPHA:1914
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type
Wide nose, Depressed nasal bridge, Anteverted nares, Micromelia, Cardiomegaly, Iliac crest serrat... OMIM:613320
Cat Eye Syndrome
Ventricular septal defect, Renal agenesis, Micrognathia, Absent radius, Patent ductus arteriosus,... OMIM:115470
Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency
Depressed nasal bridge, Anteverted nares, Ventricular septal defect, Postaxial polydactyly, Abnor... ORPHA:404440
Greig Cephalopolysyndactyly Syndrome
Broad hallux phalanx, Broad hallux, Hypospadias, 1-3 toe syndactyly, Preaxial hand polydactyly, P... OMIM:175700
Atrioventricular Defect-Blepharophimosis-Radial And Anal Defect Syndrome
Aplasia/Hypoplasia of the thumb, Hypoplasia of the ulna, Micrognathia, Absent radius, Wide nasal ... ORPHA:1352
Chung-Jansen Syndrome
Anteverted nares, Tapered finger, Micrognathia, Cryptorchidism, Hip dysplasia, Clinodactyly of th... OMIM:617991
X-Linked Intellectual Disability, Schimke Type
Narrow nasal bridge, Hip contracture, Elbow flexion contracture, Vesicoureteral reflux, Hydroneph... ORPHA:85285
8P Inverted Duplication/Deletion Syndrome
Small hypothenar eminence, Anteverted nares, Dextrocardia, Micrognathia, Precocious puberty, Long... ORPHA:96092
Chromosome 3Q29 Duplication Syndrome
Abnormally large globe, Bulbous nose, Wide nasal bridge, Multiple palmar creases, Short nose OMIM:611936
Mietens Syndrome
Hypoplasia of the ulna, Wide nose, Coxa valga, Elbow dislocation, Metatarsus adductus, Avascular ... ORPHA:2557
Mitochondrial Myopathy And Sideroblastic Anemia
Short nose, Delayed puberty, Anemia, Micrognathia ORPHA:2598
Severe Intellectual Disability-Epilepsy-Anal Anomalies-Distal Phalangeal Hypoplasia
Mandibular prognathia, Ventricular septal defect, Aplasia/Hypoplasia of the distal phalanges of t... ORPHA:94066
Linear Skin Defects With Multiple Congenital Anomalies 1
Overriding aorta, Ventricular septal defect, Single transverse palmar crease, Hypospadias, Chorde... OMIM:309801
Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, And Genital Anomalies
Epiphyseal dysplasia, Metaphyseal dysplasia, Depressed nasal bridge, Decreased response to growth... OMIM:614732
Maternal Phenylketonuria
Anteverted nares, Ventricular septal defect, Bifid distal phalanx of the thumb, Micrognathia, Cli... ORPHA:2209
Joubert Syndrome 22
Postaxial hand polydactyly, 2-3 toe syndactyly, Renal hypoplasia, Postaxial foot polydactyly, Mic... OMIM:615665
Proximal Symphalangism
Finger syndactyly, Brachydactyly, Camptodactyly of finger, Tarsal synostosis, Elbow dislocation, ... ORPHA:3250
Camptodactyly Syndrome, Guadalajara Type 1
Hallux valgus, Mandibular prognathia, Scapular winging, Toe syndactyly, Depressed nasal bridge, A... ORPHA:1327
Oculodentodigital Dysplasia, Autosomal Recessive
Delayed eruption of teeth, Broad long bones, Fifth finger distal phalanx clinodactyly, Underdevel... OMIM:257850
Amastia, Bilateral, With Ureteral Triplication And Dysmorphism
Syndactyly, Congenital hip dislocation, Depressed nasal bridge, Absent nipple, Patent ductus arte... OMIM:104350
Warburg Micro Syndrome 1
Overlapping toe, Anteverted nares, Micrognathia, Cryptorchidism, Wide nasal bridge, Microphthalmia OMIM:600118
Jackson-Weiss Syndrome
Mandibular prognathia, Broad hallux phalanx, Toe syndactyly, Hypoplasia of the maxilla, Short met... ORPHA:1540
Robinow Syndrome
Micrognathia, Atrial septal defect, Webbed penis, Micropenis, Syndactyly, Multicystic kidney dysp... ORPHA:97360
Pierpont Syndrome
Wide nasal ridge, Cryptorchidism, Short toe, Deep palmar crease, Short finger, Prominent fingerti... ORPHA:487825
Arthrogryposis, Cleft Palate, Craniosynostosis, And Impaired Intellectual Development
Micrognathia, Slender long bone, Vesicoureteral reflux, Retrognathia, Hydronephrosis, Brachydactyly OMIM:618265
Chromosome 16P12.2-P11.2 Deletion Syndrome, 7.1- To 8.7-Mb
Anteverted nares, Single transverse palmar crease, Micrognathia, Bulbous nose, Clinodactyly, Wide... OMIM:613604
Nance-Horan Syndrome
Mandibular prognathia, Short metacarpal, Prominent nasal bridge, Prominent nose, Supernumerary to... ORPHA:627
17Q12 Microduplication Syndrome
Atrial septal defect, Microphthalmia, Toe syndactyly, Finger syndactyly ORPHA:261272
Microphthalmia With Hyperopia, Retinal Degeneration, Macrophakia, And Dental Anomalies
Microphthalmia OMIM:251700
Chondrodysplasia, Blomstrand Type
Depressed nasal bridge, Micromelia, Micrognathia, Squared iliac bones, Flared metaphysis, Advance... OMIM:215045
Williams Syndrome
Hypoplasia of penis, Bicuspid aortic valve, Abnormal cerebral vascular morphology, Cardiomegaly, ... ORPHA:904
Hirschsprung Disease With Ulnar Polydactyly, Polysyndactyly Of Big Toes, And Ventricular Septal Defect
Preaxial foot polydactyly, Polysyndactyly of hallux, Ventricular septal defect OMIM:235750
Renal Hypoplasia
Renal insufficiency, Urethral valve, Proteinuria, Recurrent urinary tract infections, Unilateral ... ORPHA:93101
Trisomy 8P
Short fourth metatarsal, Abnormal atrioventricular connection, Single transverse palmar crease, F... ORPHA:264450
Severe X-Linked Intellectual Disability, Gustavson Type
Congenital hip dislocation, Ventricular septal defect, Rocker bottom foot, Micrognathia, Recurren... ORPHA:3078
Cousin Syndrome
Micrognathia, Prominent protruding coccyx, Hypoplastic iliac wing, Clinodactyly of the 5th finger... OMIM:260660
Acrofacial Dysostosis, Rodríguez Type
Microretrognathia, Finger syndactyly, Prominent nasal bridge, Renal hypoplasia/aplasia, Hand olig... ORPHA:1788
Fryns Syndrome
Multicystic kidney dysplasia, Anteverted nares, Hypospadias, Micrognathia, Cryptorchidism, Wide n... ORPHA:2059
Microcephaly-Cardiomyopathy Syndrome
Sandal gap, Dilated cardiomyopathy, Ventricular septal defect, Clinodactyly of the 5th finger ORPHA:2515
Intellectual Developmental Disorder, Autosomal Dominant 44, With Microcephaly
Scapular winging, Depressed nasal bridge, Ventricular septal defect, Single transverse palmar cre... OMIM:617061
Acrocardiofacial Syndrome
Hallux valgus, Finger syndactyly, Hypoplasia of penis, Toe syndactyly, Mitral stenosis, Ventricul... ORPHA:2008
Temtamy Syndrome
Micrognathia, Hip dislocation, Hypoplasia of teeth, Aortic aneurysm, Short 2nd toe, Talipes equin... OMIM:218340
Cerebrooculofacioskeletal Syndrome 4
Prominent nasal bridge, Rocker bottom foot, Camptodactyly of finger, Micrognathia, Bilateral micr... OMIM:610758
Neurodevelopmental Disorder With Intention Tremor, Pyramidal Signs, Dyspraxia, And Ocular Anomalies
Wide nose, Depressed nasal bridge, Ventricular septal defect, Broad nasal tip, Long nose, Wide na... OMIM:619995
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome
Hyperextensibility of the finger joints, Intracranial hemorrhage, Atrial septal defect, Micropeni... ORPHA:163979
Distal Duplication 6P
Prominent nasal bridge, Micrognathia, Renal hypoplasia, Abnormality of the urinary system, Aplasi... ORPHA:1745
Bartsocas-Papas Syndrome
Finger syndactyly, Toe syndactyly, Aplasia/Hypoplasia of the distal phalanges of the toes, Underd... ORPHA:1234
Diaphragmatic Defect-Limb Deficiency-Skull Defect Syndrome
Finger syndactyly, Aplasia/hypoplasia of the humerus, Aplasia/Hypoplasia of the fibula, Abnormal ... ORPHA:2141
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked
Mandibular prognathia, Absent frontal sinuses, Micropenis, Depressed nasal bridge, Anteverted nar... OMIM:301040
Autosomal Recessive Robinow Syndrome
Hypoplasia of penis, Micrognathia, Abnormal tricuspid valve morphology, Clinodactyly of the 5th f... ORPHA:1507
Developmental Delay With Or Without Dysmorphic Facies And Autism
Micrognathia, 2-3 toe cutaneous syndactyly, Renal cyst, Microphallus, Vesicoureteral reflux, Clin... OMIM:618454
Microphthalmia, Isolated 1
Microphthalmia, Anophthalmia OMIM:251600
Intellectual Disability, Buenos-Aires Type
Mandibular prognathia, Dental malocclusion, Wide nasal bridge, Abnormal pelvic girdle bone morpho... ORPHA:3079
Hand-Foot-Genital Syndrome
Shortening of all middle phalanges of the fingers, Recurrent urinary tract infections, Ventricula... ORPHA:2438
15q26 overgrowth syndrome
Long toe, Mandibular prognathia, Arachnodactyly, Camptodactyly of finger, Abnormality of the kidn... DECIPHER:81
Verloove Vanhorick-Brubakk Syndrome
Finger syndactyly, Tarsal synostosis, Micrognathia, Cryptorchidism, Abnormality of the parathyroi... ORPHA:3429
Congenital Disorder Of Glycosylation With Defective Fucosylation 1
Patent ductus arteriosus, Hip dislocation, Wide nasal bridge, Buphthalmos, Nephrocalcinosis, Limb... OMIM:618005
Noonan Syndrome-Like Disorder With Loose Anagen Hair
Anteverted nares, Carious teeth, Cryptorchidism, Abnormality of the elbow, Pulmonic stenosis, Hyp... ORPHA:2701
Fibular Hemimelia
Anophthalmia, Bowing of the legs, Tibial bowing, Foot oligodactyly, Short tibia, Arthralgia of th... ORPHA:93323
Autosomal Recessive Amelia
Hypoplasia of penis, Micrognathia, Cryptorchidism, Abnormal cardiac septum morphology, Amelia inv... ORPHA:1027
Periventricular Nodular Heterotopia 1
Syndactyly, Bicuspid aortic valve, Cerebral hemorrhage, Patent ductus arteriosus, Stroke, Short f... OMIM:300049
8Q12 Microduplication Syndrome
Ventricular septal defect, Wide nasal bridge, Vesicoureteral reflux, Short foot, Atrial septal de... ORPHA:228399
Premature Ovarian Failure 12
Microphthalmia OMIM:616947
Baraitser-Winter Syndrome 1
Bicuspid aortic valve, Anteverted nares, Cryptorchidism, Duplication of phalanx of hallux, Patent... OMIM:243310
Li-Campeau Syndrome
Ventricular septal defect, Single transverse palmar crease, Hypothyroidism, Patent ductus arterio... OMIM:619189
Focal Dermal Hypoplasia
Abnormal palmar dermatoglyphics, Hypoplasia of the iris, Finger syndactyly, Multicystic kidney dy... ORPHA:2092
Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome Due To 10P11.21P12.31 Microdeletion
Ventricular hypertrophy, Bicuspid aortic valve, Depressed nasal bridge, Choanal atresia, Ventricu... ORPHA:284169
Fanconi Anemia, Complementation Group J
Microphthalmia, Short thumb, Bone marrow hypocellularity OMIM:609054
Kleefstra Syndrome
Mandibular prognathia, Hypoplasia of penis, Bicuspid aortic valve, Renal cyst, Vesicoureteral ref... ORPHA:261494
Acro-Renal-Ocular Syndrome
Optic disc hypoplasia, Triphalangeal thumb, Vesicoureteral reflux, Hypoplasia of the ulna, Finger... ORPHA:959
Cortical Blindness-Intellectual Disability-Polydactyly Syndrome
Microretrognathia, Short nose, Postaxial hand polydactyly ORPHA:1389
Endove Syndrome, Limb-Brain Type
Neurogenic bladder, Toe syndactyly, Recurrent urinary tract infections, Aplasia of the 3rd finger... OMIM:619218
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome
Ventricular septal defect, Micrognathia, Abnormally large globe, Broad nasal tip, Postaxial hand ... ORPHA:1655
Lethal Faciocardiomelic Dysplasia
Microretrognathia, Hypoplasia of the ulna, Sandal gap, Radial club hand, Short thumb, Hypoplasia ... ORPHA:1972
Congenital Disorder Of Glycosylation, Type Iig
Single transverse palmar crease, Micrognathia, Rhizomelia, Anteverted nares, Hypospadias, Hemolyt... OMIM:611209
Robinow Syndrome, Autosomal Recessive 1
Micrognathia, Nephrocalcinosis, Short palm, Micropenis, Duplication of the distal phalanx of hand... OMIM:268310
Phaver Syndrome
Broad hallux phalanx, Ventricular septal defect, Depressed nasal bridge, Camptodactyly of finger,... ORPHA:2876
Li-Ghorbani-Weisz-Hubshman Syndrome
Ventricular septal defect, Depressed nasal bridge, Prominent nasal bridge, Overlapping toe, Paten... OMIM:618974
Brachytelephalangic Chondrodysplasia Punctata
Optic disc hypoplasia, Hypoplasia of the maxilla, Depressed nasal ridge, Atrial septal defect, Th... ORPHA:79345
Non-Distal Duplication 13Q
Arachnodactyly, Micrognathia, Cryptorchidism, Postaxial hand polydactyly, Short nose, Aplasia/Hyp... ORPHA:1702
Immunodeficiency 90 With Encephalopathy, Functional Hyposplenia, And Hepatic Dysfunction
Pulmonary artery atresia, Howell-Jolly bodies, Ventricular septal defect, Left superior vena cava... OMIM:613759
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 1
11 pairs of ribs, Anteverted nares, Sandal gap, Short toe, Anterior open-bite malocclusion, Perim... OMIM:617877
Congenital Heart Defects And Skeletal Malformations Syndrome
Ventricular septal defect, Arachnodactyly, Sandal gap, Hypospadias, Long nose, Carious teeth, Cry... OMIM:617602
Filippi Syndrome
Enlarged epiphyses, Wide nose, Finger syndactyly, Ventricular septal defect, Prominent nasal brid... ORPHA:3255
Renal And Mullerian Duct Hypoplasia
Micrognathia, Renal hypoplasia, Horseshoe kidney, Hydrocele testis, Anteriorly displaced urethral... OMIM:266810
Braddock-Carey Syndrome 1
Multicystic kidney dysplasia, Aortic valve prolapse, Ventricular septal defect, Anteverted nares,... OMIM:619980
Urofacial Syndrome 1
Recurrent urinary tract infections, Hydroureter, Urethral valve, Cryptorchidism, Urethral obstruc... OMIM:236730
Craniofacial Abnormalities, Cataracts, Congenital Heart Disease, Sacral Neural Tube Defects, And Growth And Developmental Retardation
Atrial septal defect, Ventricular septal defect, Micrognathia OMIM:608227
Progressive Spondyloepimetaphyseal Dysplasia-Short Stature-Short Fourth Metatarsals-Intellectual Disability Syndrome
Short fourth metatarsal, Tibial metaphyseal irregularity, Coxa vara, Flattened femoral head, Incr... ORPHA:457395
Ritscher-Schinzel Syndrome 2
Prominent fingertip pads, Syndactyly, Ventricular septal defect, Broad hallux, Overlapping toe, C... OMIM:300963
Schizophrenia 1
Partially duplicated kidney, Syndactyly, Renal agenesis, Ectopic kidney, Short proximal phalanx o... OMIM:181510
Arthrogryposis, Perthes Disease, And Upward Gaze Palsy
Overlapping toe, Ventricular septal defect, Avascular necrosis of the capital femoral epiphysis, ... OMIM:614262
Gordon Syndrome
Clinodactyly of the 5th finger, Finger syndactyly, Camptodactyly of finger, Cryptorchidism ORPHA:376
Ventricular Septal Defect 3
Atrial septal defect, Pulmonary artery stenosis, Patent ductus arteriosus, Ventricular septal defect OMIM:614432
Mohr Syndrome
Syndactyly, Depressed nasal bridge, Broad nasal tip, Bifid nasal tip, Preaxial hand polydactyly, ... OMIM:252100
Chromosome 17Q12 Duplication Syndrome
Micrognathia, Atrial septal defect, Microphthalmia, Broad thumb, Brachydactyly OMIM:614526
Multiple Epiphyseal Dysplasia, Lowry Type
Epiphyseal dysplasia, Brachydactyly, Rhizomelia, Broad nasal tip, Micrognathia, Delayed epiphysea... ORPHA:166016
Developmental And Epileptic Encephalopathy 73
Narrow nasal bridge, Short nose, Hip dysplasia OMIM:618379
Cleft Palate, Cardiac Defects, And Impaired Intellectual Development
Short 2nd finger, Broad hallux, Ventricular septal defect, Sandal gap, Secundum atrial septal def... OMIM:600987
Ocular Anomalies-Axonal Neuropathy-Developmental Delay Syndrome
Mandibular prognathia, Optic nerve hypoplasia, Micrognathia, Cryptorchidism, Hip dysplasia, 3-Met... ORPHA:496790
Microphthalmia, Syndromic 8
Mandibular prognathia, Microphthalmia, Split foot, Cryptorchidism OMIM:601349
Ectodermal Dysplasia With Facial Dysmorphism And Acral, Ocular, And Brain Anomalies
Broad hallux, Sandal gap, Persistence of primary teeth, Dental malocclusion, Wide nasal bridge, 3... OMIM:618727
Williams-Beuren Region Duplication Syndrome
Decreased response to growth hormone stimulation test, Unilateral renal agenesis, Micrognathia, B... OMIM:609757
22Q11.2 Deletion Syndrome
Micrognathia, Abnormal aortic arch morphology, Hypoplasia of the thymus, Atrial septal defect, Ve... ORPHA:567
Opsismodysplasia
Depressed nasal bridge, Tapered finger, Splenomegaly, Squared iliac bones, Hypoplastic pubic bone... ORPHA:2746
Short-Rib Thoracic Dysplasia 8 With Or Without Polydactyly
Syndactyly, Ventricular septal defect, Depressed nasal bridge, Postaxial polydactyly, Pancreatic ... OMIM:615503
Adenylosuccinate Lyase Deficiency
Short nose, Anteverted nares ORPHA:46
Meckel Syndrome 14
Microretrognathia, Syndactyly, Bowing of the long bones, Anteverted nares, Postaxial polydactyly,... OMIM:619879
Congenital Varicella Syndrome
Microphthalmia, Micromelia ORPHA:291
Hadziselimovic Syndrome
Ventricular hypertrophy, Anteverted nares, Prominent nasal bridge, Ventricular septal defect, Ren... OMIM:612946
Thrombocytopenia-Absent Radius Syndrome
Ureteral duplication, Micrognathia, Femoral bowing, Abnormal shoulder morphology, Clinodactyly of... OMIM:274000
Urofacial Syndrome 2
Renal insufficiency, Recurrent urinary tract infections, Bladder trabeculation, Spastic/hyperacti... OMIM:615112
Joubert Syndrome 35
Multicystic kidney dysplasia, Recurrent urinary tract infections, Depressed nasal bridge, Antever... OMIM:618161
Chromosome 6Q11-Q14 Deletion Syndrome
Single transverse palmar crease, Prominent nasal bridge, Broad nasal tip, Micrognathia, Bilateral... OMIM:613544
Macrocephaly-Intellectual Disability-Autism Syndrome
Depressed nasal bridge, Penile freckling, Hurthle cell thyroid adenoma, Preaxial hand polydactyly... ORPHA:210548
Hypertelorism, Microtia, Facial Clefting Syndrome
Broad nasal tip, Micrognathia, Ectopic kidney, 2-3 toe syndactyly, Abnormal heart morphology, Sma... OMIM:239800
Boomerang Dysplasia
Finger syndactyly, Abnormal morphology of the radius, Abnormal morphology of ulna, Micromelia, Ap... ORPHA:1263
Wolfram Syndrome 1
Sideroblastic anemia, Neurogenic bladder, Diabetes mellitus, Diabetes insipidus, Hydroureter, Meg... OMIM:222300
Stromme Syndrome
Accessory spleen, Prominent nasal bridge, Optic nerve hypoplasia, Micrognathia, Bilateral renal h... OMIM:243605
Cardiac Valvular Dysplasia 1
Arteria lusoria, Atrial septal defect, Pulmonary artery atresia, Patent foramen ovale, Pulmonic s... OMIM:212093
Ectodermal Dysplasia-Syndactyly Syndrome 2
Syndactyly, Enamel hypoplasia, Palmoplantar keratoderma, Cardiomegaly OMIM:613576
Weaver Syndrome
Finger syndactyly, Hypoplasia of penis, Sandal gap, Camptodactyly of finger, Micrognathia, Crypto... ORPHA:3447
Frontometaphyseal Dysplasia
Single transverse palmar crease, Limited elbow movement, Micrognathia, Metaphyseal widening, Shor... ORPHA:1826
Intellectual Disability-Hypoplastic Corpus Callosum-Preauricular Tag Syndrome
Short nose, Camptodactyly of finger, Micrognathia ORPHA:1495
Pseudotrisomy 13 Syndrome
11 pairs of ribs, Ventricular septal defect, Dextrocardia, Adrenal hypoplasia, Renal agenesis, Co... OMIM:264480
Nanophthalmos
Microphthalmia ORPHA:35612
Stickler Syndrome Type 1
Hypoplasia of the maxilla, Mitral valve prolapse, Abnormal epiphysis morphology, Abnormal vertebr... ORPHA:90653
Corpus Callosum, Agenesis Of, With Facial Anomalies And Robin Sequence
Syndactyly, Depressed nasal bridge, Anteverted nares, Proximal placement of thumb, Micrognathia, ... OMIM:217980
Aarskog-Scott Syndrome
Hyperextensibility of the finger joints, Single transverse palmar crease, Hypoplasia of the maxil... OMIM:305400
Urban-Rogers-Meyer Syndrome
Hypoplasia of penis, Toe syndactyly, Prominent nasal bridge, Camptodactyly of finger, Micrognathi... ORPHA:3409
9Q21.13 Microdeletion Syndrome
Wide nasal ridge, Cryptorchidism, Abnormal heart morphology, Hip dysplasia, Polydactyly, Hydronep... ORPHA:531151
Koolen-De Vries Syndrome
Ureteral duplication, Bicuspid aortic valve, Prominent nasal bridge, Arachnodactyly, Underdevelop... ORPHA:96169
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome
Mandibular prognathia, Bicuspid aortic valve, Micrognathia, Short palm, Clinodactyly of the 5th f... ORPHA:508498
Bartsocas-Papas Syndrome 2
2-5 finger cutaneous syndactyly, Micrognathia, Small hand, Absent distal phalanges, Microphthalmia OMIM:619339
Silver-Russell Syndrome 1
Syndactyly, Urethral valve, Hypospadias, Decreased response to growth hormone stimulation test, M... OMIM:180860
Igg4-Related Aortitis
Thoracic aortic aneurysm, Hypereosinophilia, Abnormal aortic arch morphology, Ascending tubular a... ORPHA:449400
Chromosome 13Q33-Q34 Deletion Syndrome
Single transverse palmar crease, Micrognathia, Advanced eruption of teeth, Distally placed thumb,... OMIM:619148
Methylmalonate Semialdehyde Dehydrogenase Deficiency
Elevated urinary 3-hydroxybutyric acid, Depressed nasal bridge, Anteverted nares, Single transver... OMIM:614105
Fanconi Anemia, Complementation Group S
Anteverted nares, Prominent nasal bridge, Proximal placement of thumb, Underdeveloped nasal alae,... OMIM:617883
Orofaciodigital Syndrome Viii
Syndactyly, Broad nasal tip, Bifid nasal tip, Polydactyly, Short tibia OMIM:300484
Oculogastrointestinal Neurodevelopmental Syndrome
Bicuspid aortic valve, Bilateral microphthalmos, Unilateral microphthalmos, Horseshoe kidney, Low... OMIM:619318
Microphthalmia, Isolated, With Coloboma 5
Microphthalmia, Anophthalmia, Bilateral microphthalmos OMIM:611638
Basel-Vanagaite-Smirin-Yosef Syndrome
Ventricular septal defect, Anteverted nares, Single transverse palmar crease, Hypospadias, 2-3 to... OMIM:616449
Conotruncal Heart Malformations
Broad hallux, Postaxial polydactyly, Complete atrioventricular canal defect, Double outlet right ... OMIM:217095
Meckel Syndrome, Type 4
Bowing of the long bones, Ventricular septal defect, Postaxial hand polydactyly, Renal cyst, Bile... OMIM:611134
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly
Ventricular septal defect, Micrognathia, Thyroid lymphangiectasia, Pancreatic lymphangiectasis, P... OMIM:235255
Mandibulofacial Dysostosis, Guion-Almeida Type
Ventricular septal defect, Anteverted nares, Choanal atresia, Proximal placement of thumb, Microg... OMIM:610536
Chromosome 19Q13.11 Deletion Syndrome, Distal
Anteverted nares, Overlapping toe, Hypospadias, Underdeveloped nasal alae, Micrognathia, Carious ... OMIM:613026
Say Syndrome
Ulnar deviation of the 3rd finger, Micrognathia, Tapered finger, Proximal renal tubular acidosis,... OMIM:181180
Ohdo Syndrome
Depressed nasal bridge, Anteverted nares, Proteinuria, Micrognathia, Cryptorchidism, Wide nasal b... OMIM:249620
Congenitally Uncorrected Transposition Of The Great Arteries
Levotransposition of the great arteries, Ventricular septal defect, Abnormal pulmonary valve morp... ORPHA:860
Microgastria-Limb Reduction Defect Syndrome
Anophthalmia, Abnormality of the spleen, Abnormal finger morphology, Atrial septal defect, Phocom... ORPHA:2538
Fatco Syndrome
Finger syndactyly, Tarsal synostosis, Abnormal tibia morphology, Split hand, Absent hand, Abnorma... ORPHA:2492
Hennekam Lymphangiectasia-Lymphedema Syndrome 2
Syndactyly, Pericardial lymphangiectasia, Depressed nasal bridge, Pulmonary lymphangiectasia, Cam... OMIM:616006
Rhombencephalosynapsis
Microretrognathia, Finger syndactyly, Septo-optic dysplasia, Anteverted nares, Abnormal renal mor... ORPHA:59315
Congenital Heart Defects, Multiple Types, 2
Bicuspid aortic valve, Ventricular septal defect, Myxomatous mitral valve degeneration, Subvalvul... OMIM:614980
Robinow Syndrome, Autosomal Dominant 3
Hypoplastic right heart, Micrognathia, Vesicoureteral reflux, Pulmonary artery atresia, Micropeni... OMIM:616894
Al-Raqad Syndrome
Atrial septal defect, Short nose, Sandal gap, Brachydactyly OMIM:616459
Chromosome 2P16.1-P15 Deletion Syndrome
Depressed nasal bridge, Optic nerve hypoplasia, Arachnodactyly, Metatarsus adductus, Cryptorchidi... OMIM:612513
Mesomelia-Synostoses Syndrome
Microretrognathia, Ulnar deviation of the hand, Progressive forearm bowing, Micromelia, Micrognat... OMIM:600383
Tarp Syndrome
Finger syndactyly, Extramedullary hematopoiesis, Anteverted nares, Single transverse palmar creas... ORPHA:2886
Intellectual Developmental Disorder, X-Linked 99, Syndromic, Female-Restricted
Depressed nasal bridge, Choanal atresia, Postaxial polydactyly, Prominent nose, Tapered finger, A... OMIM:300968
2Q31.1 Microdeletion Syndrome
Micrognathia, Abnormal tibia morphology, Short palm, Clinodactyly of the 5th finger, Atrial septa... ORPHA:251014
Methimazole Embryofetopathy
Ventricular septal defect, Choanal atresia, Hypospadias, Abnormality of the thyroid gland, Coarct... ORPHA:1923
Inverted Duplicated Chromosome 15 Syndrome
Ventricular septal defect, Unilateral renal agenesis, Broad nasal tip, Precocious puberty, Crypto... ORPHA:3306
Micro Syndrome
Hypoplasia of penis, Anteverted nares, Micrognathia, Cryptorchidism, Wide nasal bridge, Abnormal ... ORPHA:2510
Poland Syndrome
Syndactyly, Unilateral oligodactyly, Dextrocardia, Unilateral brachydactyly, Short ribs, Hypoplas... OMIM:173800
Nance-Horan Syndrome
Prominent nasal bridge, Prominent nose, Mulberry molar, Broad finger, Supernumerary maxillary inc... OMIM:302350
Mesomelic Dysplasia, Nievergelt Type
Finger syndactyly, Abnormal morphology of ulna, Micromelia, Tarsal synostosis, Elbow dislocation,... ORPHA:2633
Encephalocraniocutaneous Lipomatosis
Ventricular septal defect, Cryptorchidism, Hypoplasia of the iris, Subvalvular aortic stenosis, A... OMIM:613001
Right Atrial Isomerism
Right atrial isomerism, Ventricular septal defect, Dextrocardia, Aortopulmonary collateral arteri... OMIM:208530
Congenital Alveolar Capillary Dysplasia
Absent gallbladder, Bicuspid aortic valve, Ventricular septal defect, Asplenia, Patent ductus art... ORPHA:210122
Atrial Septal Defect 2
Ventricular septal defect, Dextrocardia, Patent ductus arteriosus, Pulmonic stenosis, Atrial sept... OMIM:607941
Khan-Khan-Katsanis Syndrome
Ureteral duplication, Patent ductus arteriosus after premature birth, Postaxial polydactyly, Micr... OMIM:618460
Cerebrooculofacioskeletal Syndrome 1
Delayed eruption of teeth, Prominent nasal bridge, Rocker bottom foot, Prominent nose, Coxa valga... OMIM:214150
Martsolf Syndrome 1
Micrognathia, Hypoplasia of the maxilla, Osteopathia striata, Finger joint hypermobility, Short p... OMIM:212720
Acrofacial Dysostosis, Catania Type
Microretrognathia, Finger syndactyly, Brachydactyly, Hypospadias, Carious teeth, Cryptorchidism, ... ORPHA:1786
Fanconi Anemia, Complementation Group F
Decreased response to growth hormone stimulation test, Absent thumb, Short thumb, Patent ductus a... OMIM:603467
Oculomaxillofacial Dysostosis
Camptodactyly of finger, Underdeveloped nasal alae, Abnormality of the humerus, Abnormality of th... ORPHA:1794
Clark-Baraitser Syndrome
Depressed nasal bridge, Anteverted nares, Sandal gap, Clinodactyly, Short nose, Low hanging colum... OMIM:617752
Johanson-Blizzard Syndrome
Delayed eruption of teeth, Hypoplasia of penis, Diabetes mellitus, Hypospadias, Dextrocardia, Und... ORPHA:2315
Takenouchi-Kosaki Syndrome
Overlapping toe, Hypospadias, Proximal placement of thumb, Tapered finger, Increased mean platele... OMIM:616737
Cutis Laxa, Autosomal Recessive, Type Iie
Syndactyly, Brachydactyly, Broad nasal tip, Hip dislocation, Wide nasal bridge, Prominent nasolab... OMIM:619451
Femoral-Facial Syndrome
Short fourth metatarsal, Limited elbow movement, Micrognathia, Maternal diabetes, Micropenis, Cry... OMIM:134780
Intellectual Developmental Disorder, Autosomal Recessive 73
Clinodactyly of the 5th finger, Patent ductus arteriosus, Ventricular septal defect, Single trans... OMIM:619717
Severe Combined Immunodeficiency, X-Linked
Impaired lymphocyte transformation with phytohemagglutinin, T lymphocytopenia, Hypoplasia of the ... OMIM:300400
Wolfram Syndrome, Mitochondrial Form
Sideroblastic anemia, Diabetes mellitus, Hydroureter, Megaloblastic anemia, Neutropenia, Diabetes... OMIM:598500
Brain Malformation-Congenital Heart Disease-Postaxial Polydactyly Syndrome
Ventricular septal defect, Depressed nasal bridge, Anteverted nares, Postaxial hand polydactyly, ... ORPHA:75389
5Q14.3 Microdeletion Syndrome
Short nose, Toe syndactyly, Anteverted nares, Optic nerve hypoplasia ORPHA:228384
Macrosomia-Microphthalmia-Cleft Palate Syndrome
Microphthalmia ORPHA:2432
Arrhinia-Choanal Atresia-Microphthalmia Syndrome
Aplasia/Hypoplasia involving the nose, Hypogonadotropic hypogonadism, Choanal atresia, Abnormalit... ORPHA:1135
Neurodevelopmental Disorder With Cataracts, Poor Growth, And Dysmorphic Facies
Microretrognathia, Overlapping toe, Bulbous nose, Wide nasal bridge, Abnormal heart morphology, M... OMIM:618571
Histiocytosis-Lymphadenopathy Plus Syndrome
Decreased response to growth hormone stimulation test, Cardiomegaly, Joint contracture of the 5th... OMIM:602782
Retinal Degeneration-Nanophthalmos-Glaucoma Syndrome
Microphthalmia ORPHA:1574
Feingold Syndrome
Hallux valgus, Toe syndactyly, Depressed nasal bridge, Anteverted nares, Micrognathia, Abnormalit... ORPHA:1305
Craniofrontonasal Dysplasia
Finger syndactyly, Broad hallux phalanx, Sandal gap, Camptodactyly of finger, Down-sloping should... ORPHA:1520
Noonan Syndrome 12
11 pairs of ribs, Lymphopenia, Ventricular septal defect, Decreased response to growth hormone st... OMIM:618624
Alkuraya-Kucinskas Syndrome
Depressed nasal bridge, Anteverted nares, Overlapping toe, Micrognathia, Pericardial effusion, Cl... OMIM:617822
Skraban-Deardorff Syndrome
Ventricular septal defect, Depressed nasal bridge, Anteverted nares, Micrognathia, Right aortic a... OMIM:617616
Prune Belly Syndrome
Congenital hip dislocation, Hydroureter, Cryptorchidism, Patent ductus arteriosus, Congenital pos... OMIM:100100
Phace Association
Anomalous branches of internal carotid artery, Ventricular septal defect, Optic nerve hypoplasia,... OMIM:606519
Syndromic Diarrhea
Lymphopenia, Bicuspid aortic valve, Ventricular septal defect, Increased mean platelet volume, Sp... ORPHA:84064
Atelosteogenesis, Type Iii
Radial bowing, Rhizomelia, Depressed nasal bridge, Sandal gap, Micrognathia, Elbow dislocation, T... OMIM:108721
Cerebellar-Facial-Dental Syndrome
Ventricular septal defect, Single transverse palmar crease, Anteverted nares, Tapered finger, Mic... ORPHA:444072
Meckel Syndrome, Type 5
Bowing of the long bones, Postaxial hand polydactyly, Renal cyst, Postaxial foot polydactyly, Bil... OMIM:611561
9q subtelomeric deletion syndrome
Short nose, Anteverted nares, Abnormal heart morphology DECIPHER:52
Microphthalmia, Isolated, With Coloboma 10
Microphthalmia, Anophthalmia OMIM:616428
Rere-Related Neurodevelopmental Syndrome
Ventricular septal defect, Anteverted nares, Choanal atresia, Micrognathia, Hypospadias, Cryptorc... ORPHA:494344
Harel-Yoon Syndrome
Mandibular prognathia, Micrognathia, Hip dysplasia, Hypertrophic cardiomyopathy, Short nose OMIM:617183
Bresek Syndrome
Decreased testicular size, Hypoplasia of the bladder, Renal dysplasia, Optic nerve hypoplasia, Cr... ORPHA:85284
Isolated Split Hand-Split Foot Malformation
Finger syndactyly, Split hand, Absent hand, Aniridia, Oligodactyly ORPHA:2440
Hinman Syndrome
Renal insufficiency, Recurrent urinary tract infections, Enuresis, Vesicoureteral reflux, Hydrone... ORPHA:84085
Diaphragmatic Defects, Limb Deficiencies, And Ossification Defects Of Skull
Syndactyly, Toe syndactyly, Anteverted nares, Clinodactyly of the 5th finger, Amelia, Testicular ... OMIM:601163
Congenital Disorder Of Glycosylation, Type Il
Depressed nasal bridge, Pericardial effusion, Hip dislocation, Hepatosplenomegaly, Abnormal cardi... OMIM:608776
Weiss-Kruszka Syndrome
Bicuspid aortic valve, Anteverted nares, Ventricular septal defect, Single transverse palmar crea... OMIM:618619
Hartsfield Syndrome
Microphthalmia, Aplasia/Hypoplasia of the radius, Split hand, Depressed nasal bridge ORPHA:2117
Osteoglophonic Dysplasia
Mandibular prognathia, Hypoplasia of the maxilla, Short metatarsal, Eruption failure, Short palm,... OMIM:166250
Achondrogenesis Type 1B
Anteverted nares, Micromelia, Micrognathia, Short foot, Talipes equinovarus, Short nose ORPHA:93298
Phosphoribosylaminoimidazole Carboxylase Deficiency
Anteverted nares, Choanal atresia, Depressed nasal bridge, Missing ribs, Bilateral cryptorchidism... OMIM:619859
Lowry-Maclean Syndrome
Hypospadias, Choanal atresia, Single transverse palmar crease, Micrognathia, Hypoplasia of the ma... ORPHA:2409
Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome
Hypogonadotropic hypogonadism, Camptodactyly of finger, Malar prominence, Micrognathia, Microphth... ORPHA:48431
Noonan Syndrome 4
Ureteral duplication, Ventricular septal defect, Depressed nasal bridge, Cryptorchidism, Dental m... OMIM:610733
Achondrogenesis Type 1A
Anteverted nares, Micromelia, Micrognathia, Short foot, Short palm, Short nose ORPHA:93299
Aminopterin Syndrome Sine Aminopterin
Syndactyly, Rudimentary postaxial polydactyly of hands, Arachnodactyly, Micrognathia, Short thumb... OMIM:600325
Thoc6-Related Developmental Delay-Microcephaly-Facial Dysmorphism Syndrome
Recurrent urinary tract infections, Overlapping toe, Hypospadias, Abnormality of the kidney, Unil... ORPHA:363444
Autosomal Dominant Coarctation Of Aorta
Aortic arch aneurysm, Ventricular septal defect, Patent ductus arteriosus, Abnormal aortic arch m... ORPHA:1455
Gabriele-De Vries Syndrome
Hallux valgus, Sandal gap, Aortopulmonary collateral arteries, Broad nasal tip, Micrognathia, Lon... OMIM:617557
Neurodevelopmental Disorder With Hypotonia, Stereotypic Hand Movements, And Impaired Language
Depressed nasal bridge, Anteverted nares, Single transverse palmar crease, 2-3 toe syndactyly, Cl... OMIM:613443
Fibrochondrogenesis 1
Narrow greater sciatic notch, Short palm, Clinodactyly of the 5th finger, Patent foramen ovale, P... OMIM:228520
Vater/Vacterl Association
Abnormal nasopharynx morphology, Ectopic kidney, Preaxial polydactyly, Triphalangeal thumb, Paten... OMIM:192350
Otodental Syndrome
Delayed eruption of teeth, Anteverted nares, Abnormal dental enamel morphology, Abnormal dental p... ORPHA:2791
Oculodentodigital Dysplasia
Mandibular prognathia, Micrognathia, Clinodactyly of the 5th finger, Broad columella, Finger synd... ORPHA:2710
Acromesomelic Dysplasia 1
Short metacarpal, Radial bowing, Broad metatarsal, Short toe, Hypoplasia of the radius, Short met... OMIM:602875
Hyperphosphatasia With Impaired Intellectual Development Syndrome 1
Mandibular prognathia, Abnormally large globe, Broad nasal tip, Tapered finger, Short toe, Abnorm... OMIM:239300
Nanophthalmos 4
Microphthalmia OMIM:615972
Cohen Syndrome
Finger syndactyly, Ventricular septal defect, Prominent nasal bridge, Arachnodactyly, Tapered fin... ORPHA:193
Chromosome 9P Deletion Syndrome
Long toe, Depressed nasal bridge, Anteverted nares, Choanal atresia, Ventricular septal defect, T... OMIM:158170
Smith-Magenis Syndrome
Mandibular prognathia, Toe syndactyly, Depressed nasal bridge, Anteverted nares, Delayed eruption... ORPHA:819
Deafness, Congenital Heart Defects, And Posterior Embryotoxon
Tetralogy of Fallot, Ventricular septal defect, Peripheral pulmonary artery stenosis OMIM:617992
Pfeiffer Syndrome Type 2
Finger syndactyly, Broad hallux phalanx, Toe syndactyly, Depressed nasal bridge, Choanal atresia,... ORPHA:93259
Pfeiffer Syndrome
Mandibular prognathia, Finger syndactyly, Brachydactyly, Wide nasal bridge, Symphalangism affecti... ORPHA:710
Melanocytic Nevus Syndrome, Congenital
Prominence of the premaxilla, Anteverted nares, Narrow nasal ridge, Broad nasal tip, Short nose OMIM:137550
Mosaic Trisomy 16
Syndactyly, Ventricular septal defect, Single transverse palmar crease, Maternal diabetes, Abnorm... ORPHA:1708
Distal Deletion 10Q
Single transverse palmar crease, Prominent nose, Micrognathia, 2-3 toe cutaneous syndactyly, Func... ORPHA:96148
Odontochondrodysplasia 2 With Hearing Loss And Diabetes
Prominent nasal bridge, Precocious puberty, Moderate albuminuria, Short toe, Cone-shaped epiphyse... OMIM:619269
Microphthalmia, Lenz Type
Delayed eruption of teeth, Finger syndactyly, Hydroureter, Hypospadias, Camptodactyly of finger, ... ORPHA:568
Mosaic Variegated Aneuploidy Syndrome 2
Depressed nasal bridge, Ventricular septal defect, Single transverse palmar crease, Rhizomelia, M... OMIM:614114
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly
Syndactyly, Ventricular septal defect, Depressed nasal bridge, Micromelia, Postaxial polydactyly,... OMIM:617895
Oculodentodigital Dysplasia
Narrow nasal bridge, Neurogenic bladder, Anteverted nares, Underdeveloped nasal alae, Cubitus val... OMIM:164200
Lambotte Syndrome
Preaxial foot polydactyly, Retrognathia, Ventricular septal defect, Convex nasal ridge OMIM:245552
15Q Overgrowth Syndrome
Mandibular prognathia, Microretrognathia, Contracture of the proximal interphalangeal joint of th... ORPHA:314585
Fanconi Anemia, Complementation Group A
Duplicated collecting system, Pancytopenia, Hypergonadotropic hypogonadism, Renal agenesis, Absen... OMIM:227650
Fanconi Anemia, Complementation Group E
Duplicated collecting system, Pancytopenia, Hypergonadotropic hypogonadism, Renal agenesis, Absen... OMIM:600901
Steinfeld Syndrome
Aplasia/Hypoplasia of the thumb, Hypoplasia of the ulna, Absent gallbladder, Missing ribs, Hypopl... OMIM:184705
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly
Ventricular septal defect, Splenomegaly, Postaxial hand polydactyly, Chronic kidney disease, Cone... OMIM:615630
Acrootoocular Syndrome
Delayed eruption of teeth, Short metacarpal, Small hypothenar eminence, Sandal gap, Abnormal fing... ORPHA:2980
Crane-Heise Syndrome
Finger syndactyly, Hypoplasia of penis, Hypoplastic scapulae, Depressed nasal bridge, Anteverted ... ORPHA:1512
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 1
Renal dysplasia, Ureteral duplication, Depressed nasal bridge, Anteverted nares, Ureteral hypopla... OMIM:614080
Cataract 11, Multiple Types
Microphthalmia OMIM:610623
Congenital Disorder Of Glycosylation, Type Iie
Wide nose, Neurogenic bladder, Micrognathia, Secundum atrial septal defect, Splenomegaly, Perimem... OMIM:608779
Ehlers-Danlos Syndrome, Musculocontractural Type, 2
Arachnodactyly, Mitral valve prolapse, Bilateral talipes equinovarus, Talipes equinovarus, Campto... OMIM:615539
Floating-Harbor Syndrome
Long nose, Hypoplasia of the maxilla, Renal cyst, Nephrocalcinosis, Humeral pseudarthrosis, Atria... ORPHA:2044
Trigonocephaly With Short Stature And Developmental Delay
Clinodactyly of the 5th finger, Convex nasal ridge, Ventricular septal defect, Wide nasal bridge OMIM:314320
Multiple Synostoses Syndrome 1
Hypoplastic spinal processes, Single transverse palmar crease, Symphalangism affecting the phalan... OMIM:186500
Fibular Aplasia, Tibial Campomelia, And Oligosyndactyly Syndrome
Syndactyly, Abnormality of the hand, Hand oligodactyly, Tibial bowing, Foot oligodactyly, Short t... OMIM:246570
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 4
Hallux valgus, Dilation of Virchow-Robin spaces, Depressed nasal bridge, Single transverse palmar... OMIM:619951
Tibial Aplasia-Ectrodactyly Syndrome
Finger syndactyly, Short femur, Preaxial hand polydactyly, Postaxial hand polydactyly, Split hand... ORPHA:3329
Oculocerebrocutaneous Syndrome
Anophthalmia, Cleft ala nasi, Congenital hip dislocation, Cryptorchidism, Microphthalmia OMIM:164180
Prune Belly Syndrome
Multicystic kidney dysplasia, Congenital hip dislocation, Ventricular septal defect, Recurrent ur... ORPHA:2970
Cranioectodermal Dysplasia
Finger syndactyly, Brachydactyly, Rhizomelia, Anteverted nares, Abnormal dental enamel morphology... ORPHA:1515
Camptobrachydactyly
Finger syndactyly, Aplasia/Hypoplasia of the thumb, Toe syndactyly, Camptodactyly of finger, Ulna... ORPHA:1319
Treacher-Collins Syndrome
Hypoplasia of penis, Choanal atresia, Abnormal dental enamel morphology, Micrognathia, Hypoplasia... ORPHA:861
Floating-Harbor Syndrome
Prominent nose, Short middle phalanx of the 2nd finger, Glandular hypospadias, Nephrocalcinosis, ... OMIM:136140
Penile Agenesis
Urethral atresia, male, Ventricular septal defect, Depressed nasal bridge, Maternal diabetes, Hyd... ORPHA:49
Camptobrachydactyly
Syndactyly, Urinary incontinence, Short toe, Hand polydactyly, Congenital finger flexion contract... OMIM:114150
Insulin-Like Growth Factor I, Resistance To
Rieger anomaly, Diabetes mellitus, Ventricular septal defect, Sandal gap, Micrognathia, Small han... OMIM:270450
Kagami-Ogata Syndrome
Ventricular septal defect, Depressed nasal bridge, Anteverted nares, Coxa valga, Micrognathia, Lo... OMIM:608149
Mirror Polydactyly-Vertebral Segmentation-Limbs Defects Syndrome
Phocomelia, Split hand, Aplasia of the thymus, Foot polydactyly ORPHA:3004
Fg Syndrome 5
Depressed nasal bridge, Hypospadias, Anteverted nares, Short nose OMIM:300581
Carey-Fineman-Ziter Syndrome
Anteverted nares, Micrognathia, Aplasia of the pectoralis major muscle, Glandular hypospadias, Ul... ORPHA:1358
Hypoparathyroidism-Retardation-Dysmorphism Syndrome
Depressed nasal bridge, Decreased response to growth hormone stimulation test, Decreased circulat... OMIM:241410
Curry-Jones Syndrome
Finger syndactyly, Toe syndactyly, Abnormality of thumb phalanx, Preaxial hand polydactyly, Foot ... ORPHA:1553
Peroxisome Biogenesis Disorder 8A (Zellweger)
Epiphyseal stippling, Ventricular septal defect OMIM:614876
Heterotaxy, Visceral, 12, Autosomal
Dextrotransposition of the great arteries, Pulmonary artery atresia, Atrial septal defect, Patent... OMIM:619702
Spinal Muscular Atrophy, Type I
Atrial septal defect, Ventricular septal defect OMIM:253300
Aminopterin/Methotrexate Embryofetopathy
Mandibular prognathia, Aplasia/Hypoplasia of the thumb, Finger syndactyly, Ventricular septal def... ORPHA:1908
Microcephaly-Micromelia Syndrome
Wide nose, Micromelia, Absent thumb, Absent radius, Micrognathia, Short tibia, Humeroradial synos... OMIM:251230
Chime Syndrome
Ventricular septal defect, Abnormality of the kidney, Aplastic clavicle, Supernumerary tooth, Apl... ORPHA:3474
Bladder Dysfunction, Autonomic, With Impaired Pupillary Reflex And Secondary Cakut
Neurogenic bladder, Recurrent urinary tract infections, Hypospadias, Stage 2 chronic kidney disea... OMIM:191800
Nabais Sa-De Vries Syndrome, Type 1
Depressed nasal bridge, Optic nerve hypoplasia, Prominent nasal bridge, Bulbous nose, Vesicourete... OMIM:618828
Orofaciodigital Syndrome Type 10
Radial deviation of the hand, Depressed nasal bridge, Duplication of thumb phalanx, Tarsal synost... ORPHA:2756
Macrocephaly-Spastic Paraplegia-Dysmorphism Syndrome
Mandibular prognathia, Short nose ORPHA:2429
Roberts Syndrome
Aplasia/Hypoplasia of the thumb, Proximal placement of thumb, Micrognathia, Clinodactyly of the 5... ORPHA:3103
Renal Dysplasia
Abnormal renal calyx morphology, Urinary incontinence, Functional abnormality of the bladder, Ure... ORPHA:93108
Global Developmental Delay With Or Without Impaired Intellectual Development
Ventricular septal defect, Hypospadias, Bulbous nose, Patent ductus arteriosus, Atrial septal defect OMIM:618330
Intellectual Disability-Strabismus Syndrome
Decreased serum insulin-like growth factor 1, Depressed nasal bridge, Rocker bottom foot, Narrow ... ORPHA:363528
Weill-Marchesani Syndrome
Ventricular septal defect, Short thumb, Pulmonic stenosis, Aortic valve stenosis, Brachydactyly ORPHA:3449
Heart And Brain Malformation Syndrome
Depressed nasal bridge, Anteverted nares, Ventricular septal defect, Camptodactyly of finger, Wid... OMIM:616920
Grange Syndrome
Syndactyly, Bicuspid aortic valve, Carotid artery stenosis, Renovascular hypertension, Finger cli... OMIM:602531
Aorto-Ventricular Tunnel
Ventricular hypertrophy, Abnormal coronary artery morphology, Abnormal heart valve morphology, Ao... ORPHA:3400
Microphthalmia, Isolated 2
Microphthalmia OMIM:610093
Simpson-Golabi-Behmel Syndrome
Mandibular prognathia, Ureteral duplication, Hypoplasia of penis, Congenital hip dislocation, Cli... ORPHA:373
Multicentric Carpo-Tarsal Osteolysis With Or Without Nephropathy
Proteinuria, Camptodactyly of finger, Micrognathia, Wrist swelling, Wide nasal bridge, Slender lo... ORPHA:2774
Coloboma, Ocular, With Or Without Hearing Impairment, Cleft Lip/Palate, And/Or Impaired Intellectual Development
Hematuria, Microphthalmia OMIM:120433
Chromosome 17Q12 Deletion Syndrome
Mandibular prognathia, Micrognathia, Renal cyst, Short palm, Long toe, Multicystic kidney dysplas... OMIM:614527
Facial Clefting, Oblique, 1
Microphthalmia, Deep palmar crease OMIM:600251
Achondrogenesis
Short nose, Anteverted nares, Micromelia, Micrognathia ORPHA:932
Acrofacial Dysostosis Syndrome Of Rodriguez
11 pairs of ribs, Overlapping toe, Single transverse palmar crease, Prominent nose, Micrognathia,... OMIM:201170
Brachydactyly-Short Stature-Retinitis Pigmentosa Syndrome
Hallux valgus, Short metacarpal, Ventricular septal defect, Underdeveloped nasal alae, Micrognath... ORPHA:166035
Nasopalpebral Lipoma-Coloboma Syndrome
Depressed nasal bridge, Hypoplasia of the maxilla, Wide nasal bridge, Clinodactyly of the 5th fin... OMIM:167730
Marden-Walker Syndrome
Arachnodactyly, Anteverted nares, Dextrocardia, Micrognathia, Hypospadias, Cryptorchidism, Renal ... OMIM:248700
Laurence-Moon Syndrome
Finger syndactyly, Hypoplasia of penis, Renal insufficiency, Bilateral single transverse palmar c... ORPHA:2377
Mycophenolate Mofetil Embryopathy
Ventricular septal defect, Micrognathia, Ectopic kidney, Coarctation of aorta, Foot polydactyly, ... ORPHA:268249
Robinow Syndrome, Autosomal Dominant 2
Brachydactyly, Depressed nasal bridge, Anteverted nares, Micrognathia, Cryptorchidism, Partial du... OMIM:616331
Zellweger Syndrome
Multicystic kidney dysplasia, Ventricular septal defect, Depressed nasal bridge, Hypospadias, Mic... ORPHA:912
Trigonocephaly-Short Stature-Developmental Delay Syndrome
Convex nasal ridge, Ventricular septal defect, Wide nasal bridge, Fifth finger distal phalanx cli... ORPHA:3369
Microphthalmia, Isolated, With Coloboma 7
Microphthalmia OMIM:614497
Alg9-Cdg
Micrognathia, Right ventricular dilatation, Abnormal left ventricular outflow tract morphology, N... ORPHA:79328
Penoscrotal Transposition
Renal agenesis, Hypospadias, Micrognathia, Abnormality of the urethra, Penoscrotal transposition,... ORPHA:2842
Fatty Acyl-Coa Reductase 1 Deficiency
Short nose, Depressed nasal bridge ORPHA:438178
Adams-Oliver Syndrome 2
Depressed nasal bridge, Single transverse palmar crease, Micrognathia, Bulbous nose, Absent dista... OMIM:614219
Pelger-Huet Anomaly
Ventricular septal defect, Depressed nasal bridge, Abnormality of neutrophils, Thrombocytopenia, ... OMIM:169400
Schneckenbecken Dysplasia
Hypoplastic scapulae, Dumbbell-shaped long bone, Snail-like ilia, Flat acetabular roof, Advanced ... OMIM:269250
Intellectual Developmental Disorder, Autosomal Recessive 71
Ventricular septal defect, Unilateral renal agenesis, Abnormally large globe, Cryptorchidism, Mic... OMIM:618504
Gastrointestinal Defects And Immunodeficiency Syndrome 1
Impaired lymphocyte transformation with phytohemagglutinin, Autoimmune hemolytic anemia, Ventricu... OMIM:243150
Intellectual Developmental Disorder, Autosomal Recessive 18, With Or Without Epilepsy
Atrial septal defect, Ventricular septal defect OMIM:614249
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome
11 pairs of ribs, Hypoplasia of penis, Anophthalmia, Ventricular septal defect, Hypospadias, Cryp... ORPHA:77298
Omodysplasia 1
Short humerus, Ventricular septal defect, Depressed nasal bridge, Rhizomelia, Increased fibular d... OMIM:258315
Premature Aging Syndrome, Penttinen Type
Aplasia of the nasal bone, Micrognathia, Hypoplasia of the maxilla, Elevated circulating thyroid-... OMIM:601812
Schinzel-Giedion Midface Retraction Syndrome
Abnormal nasopharynx morphology, Increased density of long bones, Single transverse palmar crease... OMIM:269150
19Q13.11 Microdeletion Syndrome
Finger syndactyly, Congenital hip dislocation, Ventricular septal defect, Toe syndactyly, Supernu... ORPHA:217346
Oculoauriculofrontonasal Syndrome
Wide nose, Ventricular septal defect, Micrognathia, Bifid nasal tip, Underdeveloped nasal alae ORPHA:398156
Orofaciodigital Syndrome Type 1
Micrognathia, Clinodactyly of the 5th finger, Finger syndactyly, Multicystic kidney dysplasia, Ab... ORPHA:2750
Deafness, Onychodystrophy, Osteodystrophy, Impaired Intellectual Development, And Seizures Syndrome
Increased urine alpha-ketoglutarate concentration, Ventricular septal defect, Anteverted nares, R... OMIM:220500
Pectus Excavatum-Macrocephaly-Dysplastic Nails Syndrome
Hypoplasia of the zygomatic bone, Malar flattening, Short nose, Depressed nasal bridge ORPHA:2835
Summitt Syndrome
Syndactyly OMIM:272350
Marshall Syndrome
Radial bowing, Depressed nasal bridge, Anteverted nares, Coxa valga, Hypoplastic ilia, Micrognath... OMIM:154780
Rubinstein-Taybi Syndrome 1
Single transverse palmar crease, Premature thelarche, Prominent nose, Micrognathia, Hypoplasia of... OMIM:180849
Intellectual Developmental Disorder With Behavioral Abnormalities And Craniofacial Dysmorphism With Or Without Seizures
Clinodactyly of the 5th finger, Syndactyly, Tapered finger OMIM:618725
Short Stature-Craniofacial Anomalies-Genital Hypoplasia Syndrome
Microretrognathia, Finger syndactyly, Arachnodactyly, Camptodactyly of finger, Triphalangeal thum... ORPHA:2994
Mandibulofacial Dysostosis-Microcephaly Syndrome
Micrognathia, Hypoplasia of the maxilla, Preaxial hand polydactyly, Atrial septal defect, Malar f... ORPHA:79113
Diamond-Blackfan Anemia 8
Macrocytic anemia, Wide nasal bridge, Increased mean corpuscular volume, Neutropenia, Short nose OMIM:612563
Trichothiodystrophy 4, Nonphotosensitive
Anteverted nares, Ventricular septal defect, Hypoplasia of teeth, Microphthalmia, Short nose, Ret... OMIM:234050
Intellectual Developmental Disorder, X-Linked, Syndromic, Lujan-Fryns Type
Narrow nasal bridge, Hyperextensibility of the finger joints, Macroorchidism, Ventricular septal ... OMIM:309520
Diaphragmatic Hernia 4, With Cardiovascular Defects
11 pairs of ribs, Finger syndactyly, Ventricular septal defect, Optic nerve hypoplasia, Aortopulm... OMIM:620025
Axial Mesodermal Dysplasia Spectrum
Missing ribs, Micrognathia, Abnormality of the spleen, Renal hypoplasia/aplasia, Abnormality of t... ORPHA:1834
Cornelia De Lange Syndrome 4 With Or Without Midline Brain Defects
Syndactyly, Anteverted nares, Single transverse palmar crease, Wide nasal bridge, Coxa vara, 2-3 ... OMIM:614701
Jacobsen Syndrome
Long hallux, Broad columella, Broad hallux phalanx, Finger syndactyly, Multicystic kidney dysplas... ORPHA:2308
Atelosteogenesis, Type I
Micrognathia, Short metatarsal, Tibial bowing, Vertebral hypoplasia, Short metacarpal, Radial bow... OMIM:108720
Heterotaxy, Visceral, 8, Autosomal
Atrial situs inversus, Atrial situs ambiguous, Ventricular septal defect, Dextrocardia, Aortopulm... OMIM:617205
Microlissencephaly-Micromelia Syndrome
11 pairs of ribs, Hypoparathyroidism, Bilateral single transverse palmar creases, Micromelia, Fet... ORPHA:50810
Hydrolethalus Syndrome 1
Accessory spleen, Ventricular septal defect, Hypospadias, Micrognathia, Complete atrioventricular... OMIM:236680
Trisomy 18
Microretrognathia, Ventricular septal defect, Choanal atresia, Camptodactyly of finger, Abnormali... ORPHA:3380
Ochoa Syndrome
Recurrent urinary tract infections, Renal insufficiency, Urinary incontinence, Cryptorchidism, Ur... ORPHA:2704
Intestinal Pseudoobstruction, Neuronal, Chronic Idiopathic, X-Linked
Increased mean platelet volume, Patent ductus arteriosus, Increased size of the mandible, Hydrone... OMIM:300048
Acropectorovertebral Dysplasia
Finger syndactyly, Camptodactyly of finger, Tarsal synostosis, Triphalangeal thumb, Synostosis of... ORPHA:957
Intellectual Developmental Disorder With Microcephaly And With Or Without Ocular Malformations Or Hypogonadotropic Hypogonadism
Delayed eruption of teeth, Renal malrotation, Depressed nasal bridge, Anteverted nares, Decreased... OMIM:615866
Microcephaly-Corpus Callosum And Cerebellar Vermis Hypoplasia-Facial Dysmorphism-Intellectual Disability Syndrom
Diabetes mellitus, Bicuspid aortic valve, Anteverted nares, Prominent nasal bridge, Ventricular s... ORPHA:500159
Sponastrime Dysplasia
Mandibular prognathia, Obtuse angle of mandible, Aplasia of the nasal bone, Delayed epiphyseal os... ORPHA:93357
Microphthalmia, Isolated, With Coloboma 3
Microphthalmia OMIM:610092
Keutel Syndrome
Wide nose, Ventricular septal defect, Depressed nasal bridge, Underdeveloped nasal alae, Pulmonar... ORPHA:85202
Early-Onset Seizures-Distal Limb Anomalies-Facial Dysmorphism-Global Developmental Delay Syndrome
Hyperextensibility of the finger joints, Wide nose, Toe syndactyly, Ventricular septal defect, Pr... ORPHA:505237
Thumb Deformity-Alopecia-Pigmentation Anomaly Syndrome
Finger syndactyly, Camptodactyly of finger, Short thumb, Palmoplantar keratoderma, Triphalangeal ... ORPHA:2251
Marden-Walker Syndrome
Micrognathia, Epispadias, Abnormal penis morphology, Multicystic kidney dysplasia, Arachnodactyly... ORPHA:2461
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 2
Depressed nasal bridge, Anteverted nares, Recurrent upper respiratory tract infections, B lymphoc... OMIM:614069
Adams-Oliver Syndrome
Finger syndactyly, Brachydactyly, Abnormal pulmonary valve morphology, Absent toe, Split hand, Ab... ORPHA:974
Craniosynostosis, Philadelphia Type
Finger syndactyly ORPHA:1527
Contractural Arachnodactyly, Congenital
Hip contracture, Bowing of the long bones, Ventricular septal defect, Bicuspid aortic valve, Arac... OMIM:121050
Refsum Disease
Short metacarpal, Renal insufficiency, Splenomegaly, Anosmia, Cardiomyopathy, Hammertoe, Abnormal... ORPHA:773
Primary Microcephaly-Mild Intellectual Disability-Young-Onset Diabetes Syndrome
Wide nose, Diabetes mellitus, Anteverted nares, Down-sloping shoulders, Deviation of the 5th toe,... ORPHA:391408
Congenital Toxoplasmosis
Cardiomegaly, Lymphadenopathy, Anemia, Microphthalmia, Thrombocytopenia ORPHA:858
Congenital Heart Defects, Multiple Types, 8, With Or Without Heterotaxy
Toe syndactyly, Ventricular septal defect, Dextrocardia, Bilateral single transverse palmar creas... OMIM:619657
2Q37 Microdeletion Syndrome
Finger syndactyly, Short metacarpal, Toe syndactyly, Depressed nasal bridge, Anteverted nares, Br... ORPHA:1001
Al-Gazali Syndrome
Proximal radio-ulnar synostosis, Bowed humerus, Micrognathia, Bilateral talipes equinovarus, Broa... OMIM:609465
Campomelic Dysplasia
11 pairs of ribs, Bowing of the long bones, Depressed nasal bridge, Small abnormally formed scapu... ORPHA:140
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency
Decreased circulating cortisol level, Adrenal hyperplasia, Decreased circulating dehydroepiandros... ORPHA:95699
Dihydropyrimidine Dehydrogenase Deficiency
Microphthalmia, Uraciluria OMIM:274270
Epilepsy, Focal, With Speech Disorder And With Or Without Impaired Intellectual Development
Short nose OMIM:245570
Neurodevelopmental Disorder With Hypotonia, Impaired Speech, And Behavioral Abnormalities
Short nose, Anteverted nares, Long hallux, Tapered finger OMIM:619854
Satb2-Associated Syndrome Due To A Chromosomal Rearrangement
Convex nasal ridge, Micrognathia, Tibial bowing, Clinodactyly of the 5th finger, Micropenis, Broa... ORPHA:251028
Diamond-Blackfan Anemia 7
Small hypothenar eminence, Macrocytic anemia, Ventricular septal defect, Choanal atresia, Secundu... OMIM:612562
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins
Bicuspid aortic valve, Parachute mitral valve, Micrognathia, Asplenia, Atrial septal defect, Atri... OMIM:265380
Fetal Alcohol Syndrome
Anteverted nares, Micrognathia, Atrial septal defect, Microphthalmia, Short nose ORPHA:1915
Diamond-Blackfan Anemia 12
Macrocytic anemia, Ventricular septal defect, Reticulocytopenia, Normochromic anemia, Triphalange... OMIM:615550
Xy Type Gonadal Dysgenesis-Associated Anomalies Syndrome
Brachydactyly, Ventricular septal defect, Renal hypoplasia/aplasia, Abnormality of the ureter, Po... ORPHA:1770
Fanconi Anemia, Complementation Group C
Duplicated collecting system, Pancytopenia, Ventricular septal defect, Hypergonadotropic hypogona... OMIM:227645
46,Xx Sex Reversal 5
Ventricular septal defect, Secundum atrial septal defect, Hypoplastic left heart, Increased serum... OMIM:618901
Isolated Osteopoikilosis
Syndactyly, Abnormal pelvis bone morphology, Abnormality of the kidney, Abnormality of the endocr... ORPHA:166119
Chromosome 1P36 Deletion Syndrome, Proximal
Bicuspid aortic valve, Anteverted nares, Ventricular septal defect, Micrognathia, Bifid nasal tip... OMIM:619343
Kapur-Toriello Syndrome
Hypoplasia of penis, Ventricular septal defect, Patent ductus arteriosus, Bulbous nose, Microphth... ORPHA:2328
Fetal Valproate Spectrum Disorder
Short nose, Depressed nasal ridge ORPHA:1906
Chromosome 5Q12 Deletion Syndrome
Long toe, Ventricular septal defect, Prominent nose, Micrognathia, Long fingers, Patent ductus ar... OMIM:615668
Koolen-De Vries Syndrome
Prominent fingertip pads, Recurrent urinary tract infections, Bicuspid aortic valve, Prominent na... OMIM:610443
Trisomy 20P
Finger syndactyly, Anteverted nares, Camptodactyly of finger, Hypospadias, Micrognathia, Abnormal... ORPHA:261318
Aural Atresia, Multiple Congenital Anomalies, And Mental Retardation
Ventricular septal defect, Talipes equinovarus OMIM:209770
Vesicoureteral Reflux 3
Ureteropelvic junction obstruction, Grade IV vesicoureteral reflux, Recurrent urinary tract infec... OMIM:613674
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly
Microretrognathia, Natal tooth, Rhizomelia, Postaxial polydactyly, Prominent nose, Cryptorchidism... OMIM:616300
46,Xy Sex Reversal 4
Renal dysplasia, Anteverted nares, Hypergonadotropic hypogonadism, Micrognathia, Prominent nose, ... OMIM:154230
16P11.2P12.2 Microdeletion Syndrome
Microretrognathia, Toe syndactyly, Anteverted nares, Camptodactyly of finger, Proximal placement ... ORPHA:261211
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome
Limited elbow movement, Micrognathia, Long nose, T lymphocytopenia, Narrow greater sciatic notch,... ORPHA:508533
Contractures-Developmental Delay-Pierre Robin Syndrome
Arachnodactyly, Overlapping toe, Hypospadias, Underdeveloped nasal alae, Metatarsus adductus, Sho... ORPHA:436003
Smith-Lemli-Opitz Syndrome
Hypoplasia of penis, Proximal placement of thumb, Micrognathia, Atrial septal defect, Advanced er... ORPHA:818
Intellectual Developmental Disorder, Autosomal Dominant 4
Syndactyly, Short toe OMIM:612581
Au-Kline Syndrome
Overlapping toe, Prominent nasal bridge, Wide nasal ridge, Underdeveloped nasal alae, Bifid nasal... OMIM:616580
Fryns Syndrome
Ureteral duplication, Ectopic pancreatic tissue, Single transverse palmar crease, Proximal placem... OMIM:229850
Heterotaxy, Visceral, 1, X-Linked
Congenital hip dislocation, Cardiomegaly, Asplenia, Dextrotransposition of the great arteries, At... OMIM:306955
Temtamy Preaxial Brachydactyly Syndrome
Syndactyly, Short metacarpal, Hitchhiker thumb, Tarsal synostosis, Talon cusp, Short metatarsal, ... OMIM:605282
Spondyloepimetaphyseal Dysplasia, Sponastrime Type
Mandibular prognathia, Metaphyseal widening, Coxa vara, Neutropenia, Genu varum, Depressed nasal ... OMIM:271510
Craniofacial-Deafness-Hand Syndrome
Ulnar deviation of the hand, Depressed nasal bridge, Hypoplasia of the maxilla, Narrow naris, Mal... OMIM:122880
Blomstrand Lethal Chondrodysplasia
Natal tooth, Short metacarpal, Bowing of the long bones, Depressed nasal bridge, Anteverted nares... ORPHA:50945
Mosaic Trisomy 8
Wide nose, Anteverted nares, Camptodactyly of finger, Broad nasal tip, Micrognathia, Cryptorchidi... ORPHA:96061
Microphthalmia, Syndromic 2
Anophthalmia, 2-3 toe cutaneous syndactyly, Atrial septal defect, Contracture of the proximal int... OMIM:300166
Endocrine-Cerebroosteodysplasia
Single transverse palmar crease, Micromelia, Micrognathia, Adrenal hypoplasia, Preaxial polydacty... OMIM:612651
Vacterl/Vater Association
Finger syndactyly, Hypoplasia of penis, Multicystic kidney dysplasia, Hypospadias, Renal agenesis... ORPHA:887
Distal Deletion 12Q
Single transverse palmar crease, Micrognathia, Ectopic kidney, Aplasia/Hypoplasia of the middle p... ORPHA:96149
Short Stature-Micrognathia Syndrome
Penoscrotal hypospadias, Rhizomelia, Ventricular septal defect, Bowing of the legs, Coxa valga, M... OMIM:617164
Diaphanospondylodysostosis
Nephrogenic rest, Depressed nasal bridge, Micrognathia, Missing ribs, Depressed nasal ridge, Neph... OMIM:608022
Pituitary Hormone Deficiency, Combined Or Isolated, 1
Decreased thyroid-stimulating hormone level, Hypopituitarism, Depressed nasal bridge, Anteverted ... OMIM:613038
Hyperphosphatasia With Impaired Intellectual Development Syndrome 2
Broad hallux, Broad nasal tip, Wide nasal bridge, Shortening of all distal phalanges of the finge... OMIM:614749
Retinitis Pigmentosa With Or Without Skeletal Anomalies
Metaphyseal dysplasia, Short metacarpal, Brachydactyly, Ventricular septal defect, Underdeveloped... OMIM:250410
Waardenburg Syndrome, Type 3
Mandibular prognathia, Scapular winging, Prominent nasal bridge, Camptodactyly of finger, Wide na... OMIM:148820
Chondrodysplasia Punctata 2, X-Linked Dominant
Rhizomelia, Postaxial polydactyly, Epiphyseal stippling, Abnormal pelvic girdle bone morphology, ... OMIM:302960
Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 1
Cryptorchidism, Slender nose, Short nose, Micrognathia OMIM:615419
Hydrolethalus
Anophthalmia, Micromelia, Micrognathia, Cryptorchidism, Postaxial hand polydactyly, Abnormality o... ORPHA:2189
Micrognathia-Recurrent Infections-Behavioral Abnormalities-Mild Intellectual Disability Syndrome
Urinary incontinence, Abnormality of the hand, Tapered finger, Unilateral radial aplasia, Complet... ORPHA:476126
Baraitser-Winter Cerebrofrontofacial Syndrome
Wide nose, Hydroureter, Transient ischemic attack, Duplication of thumb phalanx, Abnormality of t... ORPHA:2995
Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities
Urethral stricture, Single transverse palmar crease, Urinary incontinence, Long nose, Clinodactyl... OMIM:619522
Yunis-Varon Syndrome
Aplasia of the distal phalanges of the hand, Single transverse palmar crease, Aplasia/Hypoplasia ... ORPHA:3472
X Small Rings
Toe syndactyly, Bicuspid aortic valve, Anteverted nares, Ventricular septal defect, Tapered finge... ORPHA:96201
Acrofacial Dysostosis 1, Nager Type
Aplasia/Hypoplasia of the thumb, Micrognathia, Hypoplasia of first ribs, Foot oligodactyly, Triph... OMIM:154400
Fanconi Anemia
Micrognathia, Abnormal femur morphology, Leukopenia, Triphalangeal thumb, Clinodactyly of the 5th... ORPHA:84
Melnick-Needles Syndrome
Delayed eruption of teeth, Short humerus, Obtuse angle of mandible, Hypoplastic scapulae, Uretera... OMIM:309350
Antley-Bixler Syndrome
Anteverted nares, Choanal atresia, Arachnodactyly, Camptodactyly of finger, Abnormal renal morpho... ORPHA:83
Webb-Dattani Syndrome
Neurogenic bladder, Decreased response to growth hormone stimulation test, Anterior pituitary hyp... OMIM:615926
Atelis Syndrome 1
Ventricular septal defect, Prominent nose, Carious teeth, Thrombocytopenia, Leukopenia, Atrial se... OMIM:620184
3Q29 Microduplication Syndrome
Toe syndactyly, Ventricular septal defect, Sandal gap, Wide nasal bridge, Aniridia, Microphthalmi... ORPHA:251038
Peroxisome Biogenesis Disorder 1A (Zellweger)
Ulnar deviation of the hand, Ventricular septal defect, Anteverted nares, Single transverse palma... OMIM:214100
Congenital Fibrinogen Deficiency
Hemorrhagic ovarian cyst, Splenic rupture, Clubbing of fingers, Left ventricular hypertrophy, Mic... ORPHA:335
Arachnodactyly-Abnormal Ossification-Intellectual Disability Syndrome
Short nose, Arachnodactyly, Micrognathia ORPHA:1129
2P15P16.1 Microdeletion Syndrome
Multicystic kidney dysplasia, Sandal gap, Optic nerve hypoplasia, Prominent nasal bridge, Tapered... ORPHA:261349
Bardet-Biedl Syndrome 12
Hydroureter, Postaxial hand polydactyly, Postaxial foot polydactyly, Hydronephrosis, Polydactyly,... OMIM:615989
Absent Eyebrows And Eyelashes With Mental Retardation
Short nose, Convex nasal ridge OMIM:200130
Monosomy 18P
Micrognathia, Carious teeth, Wide nasal bridge, Microphthalmia, Hypothyroidism, Brachydactyly ORPHA:1598
8Q21.11 Microdeletion Syndrome
Finger syndactyly, Wide nose, Hypoplasia of penis, Camptodactyly of finger, Underdeveloped nasal ... ORPHA:284160
Gracile Bone Dysplasia
Asplenia, Flared metaphysis, Micropenis, Slender long bone, Aniridia, Microphthalmia, Hypoplastic... OMIM:602361
Developmental Delay With Short Stature, Dysmorphic Facial Features, And Sparse Hair 1
Natal tooth, Ventricular septal defect, Depressed nasal bridge, Proteinuria, Micrognathia, Hematu... OMIM:616901
Ventriculomegaly With Cystic Kidney Disease
Renal insufficiency, Ventricular septal defect, Postaxial polydactyly, Tubular luminal dilatation... OMIM:219730
Fanconi Anemia, Complementation Group R
Radial dysplasia, Absent thumb, Bone marrow hypocellularity, Microphthalmia, Pelvic kidney, Anemia OMIM:617244
Malan Syndrome
Mandibular prognathia, Hyperplasia of the premaxilla, Coxa valga, Long fingers, Advanced eruption... OMIM:614753
Fanconi Anemia, Complementation Group D2
Ectopic kidney, Aplasia of the 1st metacarpal, Reticulocytopenia, Neutropenia, Micropenis, Pelvic... OMIM:227646
Hypomandibular Faciocranial Dysostosis
Micrognathia, Hypoplasia of the maxilla, Patent ductus arteriosus, Choanal stenosis, Atrial septa... OMIM:241310
Mandibuloacral Dysplasia With Type B Lipodystrophy
Prominent superficial veins, Narrow nasal ridge, Micrognathia, Insulin-resistant diabetes mellitu... OMIM:608612
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Long toe, Ureteral duplication, Renal insufficiency, Renal dysplasia, Tapered toe, Long-chain dic... OMIM:608836
Double Outlet Right Ventricle
Hypoparathyroidism, Depressed nasal bridge, Ventricular septal defect, Double outlet right ventri... ORPHA:3426
Stuve-Wiedemann Syndrome 1
Single transverse palmar crease, Micrognathia, Femoral bowing, Tibial bowing, Short tibia, Short ... OMIM:601559
Robinow Syndrome, Autosomal Dominant 1
Micrognathia, Short palm, Micropenis, Duplication of the distal phalanx of hand, Dislocated radia... OMIM:180700
Bohring-Opitz Syndrome
Syndactyly, Ventricular septal defect, Depressed nasal bridge, Anteverted nares, Tapered finger, ... OMIM:605039
Pallister-Hall Syndrome
Adrenal hypoplasia, Ectopic kidney, Depressed nasal ridge, Gonadotropin deficiency, Atrial septal... ORPHA:672
Pelvis-Shoulder Dysplasia
Congenital hip dislocation, Hypoplastic scapulae, Hypoplastic ilia, Hypoplastic acetabulae, Short... OMIM:169550
Solitary Median Maxillary Central Incisor
Abnormal nasopharynx morphology, Anophthalmia, Midnasal stenosis, Choanal atresia, Decreased resp... OMIM:147250
Meckel Syndrome, Type 2
Bowing of the long bones, Postaxial hand polydactyly, Renal cyst, Bile duct proliferation, Polyda... OMIM:603194
Aorta Coarctation
Bicuspid aortic valve, Pseudocoarctation of the aorta, Cardiomegaly, Patent ductus arteriosus, Hy... ORPHA:1457
Digeorge Syndrome
Micrognathia, Parathyroid hypoplasia, Abnormal thymus morphology, Hypoplasia of the thymus, Hypot... OMIM:188400
Developmental And Epileptic Encephalopathy 66
Ventricular septal defect, Dextrocardia, Cryptorchidism, Wide nasal bridge, Clinodactyly of the 5... OMIM:618067
Timothy Syndrome
Ventricular septal defect, Depressed nasal bridge, Cardiomegaly, Hypothyroidism, Patent ductus ar... OMIM:601005
Immunodeficiency 9
Hypoplasia of the thymus, Amelogenesis imperfecta OMIM:612782
Intellectual Developmental Disorder With Dysmorphic Facies, Seizures, And Distal Limb Anomalies
Ventricular septal defect, Prominent nasal bridge, Overlapping toe, Tapered finger, Down-sloping ... OMIM:617452
Agenesis Of The Corpus Callosum With Peripheral Neuropathy
Tapered finger, Hypoplasia of the maxilla, Long fingers, Wide nasal bridge, 2-3 toe syndactyly, S... OMIM:218000
Sweeney-Cox Syndrome
2-4 finger syndactyly, 2-5 finger cutaneous syndactyly, Choanal atresia, Broad nasal tip, Underde... OMIM:617746
Structural Heart Defects And Renal Anomalies Syndrome
Renal insufficiency, Ventricular septal defect, Overlapping toe, Partial anomalous pulmonary veno... OMIM:617478
Microcephalic Osteodysplastic Primordial Dwarfism Types I And Iii
Micromelia, Prominent nose, Long nose, Micrognathia, Abnormal finger morphology, Short palm, Larg... ORPHA:2636
Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Impaired Intellectual Development, And Ear Anomalies Syndrome
Palmoplantar hyperkeratosis, Clinodactyly of the 5th finger, Depressed nasal bridge, Pulmonary ar... OMIM:280000
Fadd-Related Immunodeficiency
Pulmonary artery atresia, Ventricular septal defect ORPHA:306550
Bent Bone Dysplasia Syndrome 1
Bent long bone, Natal tooth, Abnormally large globe, Micrognathia, Hypoplastic pubic bone, Hepato... OMIM:614592
Foveal Hypoplasia 2
Hypoplasia of the fovea, Microphthalmia OMIM:609218
Klippel-Trenaunay-Weber Syndrome
Syndactyly, Macrodactyly, Hand oligodactyly, Hand polydactyly, Arteriovenous fistula, Lymphangioma OMIM:149000
Tetraamelia Syndrome 2
Microretrognathia, Absent nipple, Ventricular septal defect, Hypoplastic pulmonary veins, Microgn... OMIM:618021
Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly
Syndactyly, Brachydactyly, Hypoplastic scapulae, Bowing of the long bones, Hypospadias, Micromeli... OMIM:614091
Neurodevelopmental Disorder With Dysmorphic Facies And Ischiopubic Hypoplasia
Recurrent urinary tract infections, Ventricular septal defect, Splenomegaly, Coarctation of aorta... OMIM:620210
3Q29 Microdeletion Syndrome
Hypospadias, Prominent nasal bridge, Tapered finger, Patent ductus arteriosus, Horseshoe kidney, ... ORPHA:65286
Dyrk1A-Related Intellectual Disability Syndrome
Hallux valgus, Toe syndactyly, Ventricular septal defect, Narrow nasal tip, Prominent nasal bridg... ORPHA:464306
Silver-Russell Syndrome 3
Syndactyly, Unilateral cryptorchidism, Patent ductus arteriosus, Small hand, Clinodactyly of the ... OMIM:616489
Arterial Tortuosity Syndrome
Coxa vara, Clinodactyly of the 5th finger, Arachnodactyly, Pulmonary artery stenosis, Dilated car... ORPHA:3342
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome
Hypertrophy of the urinary bladder, Atrial septal defect, Patent foramen ovale, Microretrognathia... ORPHA:280633
Mitochondrial Complex Iv Deficiency, Nuclear Type 10
Ketonuria, Single transverse palmar crease, Renal hypoplasia, Microphthalmia, Hypertrophic cardio... OMIM:619053
Jacobsen Syndrome
Depressed nasal bridge, Anteverted nares, Ventricular septal defect, Micrognathia, Missing ribs, ... OMIM:147791
Cornelia De Lange Syndrome 3 With Or Without Midline Brain Defects
Bicuspid aortic valve, Single transverse palmar crease, Limited elbow movement, Proximal placemen... OMIM:610759
Ring Chromosome 21 Syndrome
Syndactyly, Narrow palm, Small hand, Abnormal heart morphology, Clinodactyly, Diabetes insipidus ORPHA:1445
Hamamy Syndrome
Long toe, Syndactyly, Hypoparathyroidism, Anteverted nares, Down-sloping shoulders, Tapered finge... OMIM:611174
Otopalatodigital Syndrome, Type Ii
Congenital hip dislocation, Micrognathia, Short metatarsal, Femoral bowing, Tibial bowing, Atrial... OMIM:304120
Arthrogryposis, Distal, Type 2A
Mandibular prognathia, Hip contracture, Flexion contracture of finger, Shoulder flexion contractu... OMIM:193700
Spinocerebellar Ataxia 42, Early-Onset, Severe, With Neurodevelopmental Deficits
Clinodactyly, Syndactyly, Short nose, Mandibular prognathia OMIM:618087
14Q22Q23 Microdeletion Syndrome
Optic nerve aplasia, Finger syndactyly, Anophthalmia, Toe syndactyly, Anterior pituitary hypoplas... ORPHA:264200
Neurodevelopmental Disorder With Hypotonia, Facial Dysmorphism, And Brain Abnormalities
Narrow nasal bridge, Anteverted nares, Overlapping toe, Wide nasal bridge, Hypertrophic cardiomyo... OMIM:619383
Raine Syndrome
Mandibular prognathia, Natal tooth, Bowing of the long bones, Hydroureter, Depressed nasal bridge... OMIM:259775
Musculocontractural Ehlers-Danlos Syndrome
Microretrognathia, Abnormal heart valve morphology, Decreased palmar creases, Tapered finger, Cry... ORPHA:2953
Aarskog-Scott Syndrome
Delayed eruption of teeth, Finger syndactyly, Anteverted nares, Single transverse palmar crease, ... ORPHA:915
Thiamine-Responsive Megaloblastic Anemia Syndrome
Sideroblastic anemia, Diabetes mellitus, Ventricular septal defect, Situs inversus totalis, Crypt... OMIM:249270
Intellectual Developmental Disorder, X-Linked, Syndromic, 35
Mandibular prognathia, Microretrognathia, Contracture of the proximal interphalangeal joint of th... OMIM:300998
Microcephaly 26, Primary, Autosomal Dominant
Prominent nasal bridge, Wide nasal bridge, Short nose, Patent foramen ovale, Hydronephrosis OMIM:619179
Phocomelia, Schinzel Type
Bowing of the long bones, Radial bowing, Hypoplasia of penis, Micromelia, Aplasia of the ulna, Mi... ORPHA:2879
Meacham Syndrome
Hypoplasia of penis, Crossed fused renal ectopia, Ventricular septal defect, Situs inversus total... ORPHA:3097
Chromosome 1Q41-Q42 Deletion Syndrome
Depressed nasal bridge, Ventricular septal defect, Anteverted nares, Broad nasal tip, Sandal gap,... OMIM:612530
Macrothrombocytopenia-Lymphedema-Developmental Delay-Facial Dysmorphism-Camptodactyly Syndrome
Overlapping toe, Hypospadias, Proximal placement of thumb, Tapered finger, Abnormality of the end... ORPHA:487796
X-Linked Dominant Chondrodysplasia Punctata
Depressed nasal bridge, Neonatal epiphyseal stippling, Hip dislocation, Upper limb asymmetry, Hyd... ORPHA:35173
Tibial Hemimelia
Aplasia of the 2nd metacarpal, Aplasia of the 4th metacarpal, Cutaneous finger syndactyly, Foot o... ORPHA:93322
Arthrogryposis, Renal Dysfunction, And Cholestasis 1
Ventricular septal defect, Micrognathia, Nephrogenic diabetes insipidus, Nephrocalcinosis, Renal ... OMIM:208085
Donnai-Barrow Syndrome
Ventricular septal defect, Short nose, Depressed nasal bridge, Proteinuria ORPHA:2143
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 3
Abnormal nasopharynx morphology, Absence of Stensen duct, Decreased response to growth hormone st... OMIM:604292
Developmental Delay, Language Impairment, And Ocular Abnormalities
Contracture of the proximal interphalangeal joint of the 5th finger, Hydronephrosis, Pulmonic ste... OMIM:620141
Holoprosencephaly-Postaxial Polydactyly Syndrome
Hypoplasia of penis, Hypospadias, Hypoplasia of the premaxilla, Adrenal hypoplasia, Micrognathia,... ORPHA:2166
Hyperphosphatasia With Impaired Intellectual Development Syndrome 4
Short nose, Wide nasal bridge, Shortening of all distal phalanges of the fingers, Broad nasal tip OMIM:615716
Ischiocoxopodopatellar Syndrome With Or Without Pulmonary Arterial Hypertension
Wide capital femoral epiphyses, Short femur, Sandal gap, Tarsal synostosis, Micrognathia, Flat ca... OMIM:147891
Glutamine Deficiency, Congenital
Depressed nasal bridge, Anteverted nares, Micromelia, Wide nasal bridge, Camptodactyly, Short nose OMIM:610015
Donnai-Barrow Syndrome
Ventricular septal defect, Depressed nasal bridge, Proteinuria, Broad nasal tip, Non-acidotic pro... OMIM:222448
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Microdeletion
Long toe, Depressed nasal bridge, Anteverted nares, Single transverse palmar crease, Overlapping ... ORPHA:254528
Heterotaxy, Visceral, 5, Autosomal
Absence of the sacrum, Right atrial isomerism, Ureteral duplication, Ventricular septal defect, D... OMIM:270100
Neurodevelopmental Disorder With Growth Retardation, Dysmorphic Facies, And Corpus Callosum Abnormalities
Ulnar deviation of the hand, Ventricular septal defect, Proximal placement of thumb, Clinodactyly... OMIM:620113
Cardiofacioneurodevelopmental Syndrome
Ventricular septal defect, Micrognathia, Asplenia, Cryptorchidism, Pulmonic stenosis, Camptodacty... OMIM:619123
Joubert Syndrome 14
Ventricular septal defect, Prominent nasal bridge, Postaxial polydactyly, Renal cyst, Intracrania... OMIM:614424
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1
Sinusitis, Depressed nasal bridge, Anteverted nares, Micrognathia, T lymphocytopenia, Malar flatt... OMIM:242860
Intellectual Developmental Disorder, X-Linked 30
Prominent fingertip pads, Short nose, Anteverted nares, Prominent nasal bridge OMIM:300558
Intellectual Developmental Disorder, X-Linked 21
Mandibular prognathia, Short nose, Macroorchidism OMIM:300143
Smith-Lemli-Opitz Syndrome
Micromelia, Proximal placement of thumb, Micrognathia, 2-3 toe cutaneous syndactyly, Renal cyst, ... OMIM:270400
Specc1L-Related Hypertelorism Syndrome
Finger syndactyly, Ventricular septal defect, Prominent nasal bridge, Ectopic kidney, Cryptorchid... ORPHA:1519
Simpson-Golabi-Behmel Syndrome, Type 1
Mandibular prognathia, Renal cyst, Narrow greater sciatic notch, Short palm, Atrial septal defect... OMIM:312870
Bardet-Biedl Syndrome 9
Syndactyly, Renal insufficiency, Postaxial polydactyly, Postaxial hand polydactyly, Postaxial foo... OMIM:615986
X-Linked Cerebral-Cerebellar-Coloboma Syndrome
Short nose, Thick nasal alae, Retrognathia, Micrognathia ORPHA:163961
Facial Paresis, Hereditary Congenital, 3
Depressed nasal bridge, Anteverted nares, Short nose, Micrognathia OMIM:614744
Congenital Myopathy 17
Mandibular prognathia, Ureteropelvic junction obstruction, Overlapping toe, Tapered finger, Denta... OMIM:618975
Frontonasal Dysplasia-Severe Microphthalmia-Severe Facial Clefting Syndrome
Camptodactyly of finger, Underdeveloped nasal alae, Hypoplasia of the maxilla, Wide nasal bridge,... ORPHA:306542
Bardet-Biedl Syndrome 6
Syndactyly, Diabetes mellitus, Hypospadias, Postaxial polydactyly, Renal cyst OMIM:605231
Developmental Delay With Variable Intellectual Disability And Dysmorphic Facies
Depressed nasal bridge, Single transverse palmar crease, Supernumerary nipple, Bulbous nose, Wide... OMIM:620098
Meacham Syndrome
Accessory spleen, Bicuspid aortic valve, Ventricular septal defect, Dextrocardia, Patent ductus a... OMIM:608978
Limb-Mammary Syndrome
Hallux valgus, Syndactyly, Split hand, Split foot, Hypoplastic nipples, Camptodactyly, Joint cont... OMIM:603543
Spondyloepimetaphyseal Dysplasia, Faden-Alkuraya Type
Short metacarpal, Short fourth metatarsal, Depressed nasal bridge, Overlapping toe, Femoral bowin... OMIM:616723
Langer Mesomelic Dysplasia
Hypoplasia of the ulna, Radial bowing, Micrognathia, Hypoplasia of the radius, Madelung deformity... OMIM:249700
Cataracts, Growth Hormone Deficiency, Sensory Neuropathy, Sensorineural Hearing Loss, And Skeletal Dysplasia
Mandibular prognathia, Congenital hip dislocation, Depressed nasal bridge, Decreased response to ... OMIM:616007
Cleft Lip/Palate-Intestinal Malrotation-Cardiopathy Syndrome
Micrognathia, Patent ductus arteriosus, Abnormal aortic morphology, Hypoplastic left heart, Clino... ORPHA:2001
19P13.3 Microduplication Syndrome
Ventricular septal defect, Unilateral cryptorchidism, Underdeveloped nasal alae, Prominent nose, ... ORPHA:447980
Pentalogy Of Cantrell
Absent gallbladder, Ventricular septal defect, Abnormal pericardium morphology, Hypospadias, Rena... ORPHA:1335
Thakker-Donnai Syndrome
Ventricular septal defect, Anteverted nares, Bulbous nose, Transposition of the great arteries, T... ORPHA:1780
Baker-Gordon Syndrome
Prominent nasal tip, Short nose OMIM:618218
Miller-Dieker Lissencephaly Syndrome
Delayed eruption of teeth, Anteverted nares, Single transverse palmar crease, Micrognathia, Crypt... OMIM:247200
Combined Oxidative Phosphorylation Deficiency 25
Syndactyly, Depressed nasal bridge, Anteverted nares, Intraventricular hemorrhage, Wide nasal bri... OMIM:616430
Jansen-De Vries Syndrome
Bicuspid aortic valve, Ventricular septal defect, Anteverted nares, Small hand, Short foot, Brach... OMIM:617450
Microphthalmia, Isolated 6
Microphthalmia OMIM:613517
Atrial Septal Defect 7 With Or Without Atrioventricular Conduction Defects
Ventricular septal defect, Secundum atrial septal defect, Subvalvular aortic stenosis, Left ventr... OMIM:108900
Short-Rib Thoracic Dysplasia 20 With Polydactyly
Natal tooth, Absent gallbladder, Depressed nasal bridge, Postaxial polydactyly, Micrognathia, Com... OMIM:617925
Brain Malformations With Or Without Urinary Tract Defects
Anteverted nares, Renal hypoplasia, Vesicoureteral reflux, Short nose, Hydronephrosis OMIM:613735
Frank-Ter Haar Syndrome
Abnormally large globe, Secundum atrial septal defect, Micrognathia, Short palm, Atrial septal de... OMIM:249420
Tetraamelia-Multiple Malformations Syndrome
Aplasia/Hypoplasia involving the nose, Septo-optic dysplasia, Multicystic kidney dysplasia, Micro... ORPHA:3301
Prader-Willi Syndrome Due To Translocation
Decreased response to growth hormone stimulation test, Anterior pituitary hypoplasia, Prominent n... ORPHA:177907
Heart Defect-Tongue Hamartoma-Polysyndactyly Syndrome
Cryptorchidism, Patent ductus arteriosus, 2-3 finger syndactyly, Subvalvular aortic stenosis ORPHA:1338
Anemia, Congenital Dyserythropoietic, Type Ib
Syndactyly, Reticulocytosis, Anisocytosis, Anemia of inadequate production, Splenomegaly, Poikilo... OMIM:615631
Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 1
Proximal radio-ulnar synostosis, Syndactyly, Amegakaryocytic thrombocytopenia, Radial bowing, Apl... OMIM:605432
Encephalopathy Due To Sulfite Oxidase Deficiency
Short nose, Aminoaciduria ORPHA:833
Chromosome 8Q21.11 Deletion Syndrome
Syndactyly, Short metacarpal, Underdeveloped nasal alae, Micrognathia, Cryptorchidism, Wide nasal... OMIM:614230
Lambert Syndrome
Malar flattening, Ventricular septal defect, Hypospadias ORPHA:1296
Sifrim-Hitz-Weiss Syndrome
Renal insufficiency, Ventricular septal defect, Hypogonadotropic hypogonadism, Tapered finger, Cr... OMIM:617159
Warburg Micro Syndrome 2
Overlapping toe, Prominent nasal bridge, Cryptorchidism, Micropenis, Microphthalmia, Short nose, ... OMIM:614225
Intellectual Disability-Brachydactyly-Pierre Robin Syndrome
Prominent nasal bridge, Underdeveloped nasal alae, Aplasia of the distal phalanx of the 5th toe, ... ORPHA:364577
Hirschsprung Disease With Hypoplastic Nails And Dysmorphic Facial Features
Hydronephrosis OMIM:235760
Emanuel Syndrome
Broad jaw, Recurrent urinary tract infections, Congenital hip dislocation, Truncus arteriosus, Ve... OMIM:609029
Metaphyseal Chondrodysplasia, Jansen Type
Hypoparathyroidism, Hip contracture, Bowing of the long bones, Hyperphosphaturia, Choanal atresia... OMIM:156400
Left Ventricular Noncompaction 1
Noncompaction cardiomyopathy, Ventricular septal defect, Left ventricular noncompaction cardiomyo... OMIM:604169
Bor Syndrome
Renal insufficiency, Multicystic kidney dysplasia, Renal hypoplasia/aplasia, Vesicoureteral reflu... ORPHA:107
Hyperphosphatasia-Intellectual Disability Syndrome
Mandibular prognathia, Prominent nasal bridge, Supernumerary nipple, Micrognathia, Bulbous nose, ... ORPHA:247262
Spondylocarpotarsal Synostosis Syndrome
Carpal synostosis, Epiphyseal dysplasia, Scapular winging, Short metacarpal, Anteverted nares, Bo... OMIM:272460
Congenital Osteogenesis Imperfecta-Microcephaly-Cataracts Syndrome
Hypoplasia of penis, Ventricular septal defect, Micromelia, Cryptorchidism, Hypoplastic left heart ORPHA:2772
Prolidase Deficiency
Depressed nasal bridge, Micrognathia, Hyperimidodipeptiduria, Thrombocytopenia, Splenomegaly, Con... OMIM:170100
Visceral Neuropathy-Brain Anomalies-Facial Dysmorphism-Developmental Delay Syndrome
Finger syndactyly, Multicystic kidney dysplasia, Toe syndactyly, Arachnodactyly, Cryptorchidism, ... ORPHA:73246
Chromosome 16P13.3 Duplication Syndrome
Proximal placement of thumb, Micrognathia, Atrial septal defect, Depressed nasal bridge, Antevert... OMIM:613458
Holoprosencephaly 3
Depressed nasal bridge, Proboscis, Abnormality of the nose, Single naris, Short columella, Malar ... OMIM:142945
Silver-Russell Syndrome Due To A Point Mutation
Syndactyly, Hypospadias, Micrognathia, Cryptorchidism, Short 5th finger, Polydactyly, Ectrodactyl... ORPHA:397590
Opitz Gbbb Syndrome
Natal tooth, Enlarged ovaries, Anteverted nares, Ventricular septal defect, Hypospadias, Microgna... ORPHA:2745
Bone Fragility With Contractures, Arterial Rupture, And Deafness
Contracture of the proximal interphalangeal joint of the 2nd finger, Anteverted nares, Decreased ... OMIM:612394
Loeys-Dietz Syndrome 2
Bicuspid aortic valve, Micrognathia, Descending thoracic aorta aneurysm, Bicuspid pulmonary valve... OMIM:610168
Cardiac-Urogenital Syndrome
Patent urachus, Scimitar anomaly, Atrial septal defect, Micropenis, Mesocardia, Penoscrotal hypos... OMIM:618280
Spondylodysplastic Ehlers-Danlos Syndrome
Abnormality of the temporomandibular joint, Single transverse palmar crease, Micrognathia, Metaph... ORPHA:536471
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency
Bicuspid aortic valve, Micrognathia, Atrial septal defect, Vesicoureteral reflux, Patent foramen ... ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations
Bicuspid aortic valve, Micrognathia, Atrial septal defect, Vesicoureteral reflux, Patent foramen ... ORPHA:353277
Scimitar Syndrome
Pulmonary artery hypoplasia, Atrial septal defect, Single ventricle, Patent ductus arteriosus, Pa... ORPHA:185
Orofaciodigital Syndrome Type 6
Syndactyly, Mesoaxial polydactyly, Renal agenesis, Prominent nasal bridge, Broad nasal tip, Micro... ORPHA:2754
Campomelic Dysplasia
Anterior tibial bowing, Micrognathia, Delayed epiphyseal ossification, Depressed nasal ridge, Pat... OMIM:114290
Short Stature With Microcephaly And Distinctive Facies
Microretrognathia, Syndactyly, Brachydactyly, Depressed nasal bridge, Anteverted nares, Proximal ... OMIM:615789
Cooper-Jabs Syndrome
Ventricular septal defect, Camptodactyly of finger, Anteverted nares, Proximal placement of thumb... ORPHA:1488
Vertebral Anomalies And Variable Endocrine And T-Cell Dysfunction
Hypoparathyroidism, Depressed nasal bridge, Decreased response to growth hormone stimulation test... OMIM:618223
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome
Ivory epiphyses, Short metacarpal, Bowing of the long bones, Rhizomelia, Metaphyseal spurs, Bowin... ORPHA:85167
Cardiac Septal Defects With Coarctation Of The Aorta
Secundum atrial septal defect, Perimembranous ventricular septal defect, Coarctation of aorta OMIM:212090
Frontofacionasal Dysplasia
Depressed nasal bridge, Choanal atresia, Bifid nasal tip, Depressed nasal ridge, Dimple on nasal ... ORPHA:1791
Intellectual Disability-Craniofacial Dysmorphism-Cryptorchidism Syndrome
Bicuspid aortic valve, Ventricular septal defect, Single transverse palmar crease, Slender finger... ORPHA:329224
Ellis Van Creveld Syndrome
Micromelia, Epispadias, Conical incisor, Atrial septal defect, Atrioventricular canal defect, Syn... ORPHA:289
Coenzyme Q10 Deficiency, Primary, 7
Patent ductus arteriosus, Ventricular septal defect, Hypertrophic cardiomyopathy, Hypoplastic lef... OMIM:616276
Pterygium Colli, Isolated
Short nose OMIM:177990
Chops Syndrome
Anteverted nares, Ventricular septal defect, Cryptorchidism, Patent ductus arteriosus, Splenomega... OMIM:616368
Congenital Disorder Of Glycosylation, Type Iil
Pancytopenia, Ventricular septal defect, Postaxial polydactyly, Unilateral renal agenesis, Spleno... OMIM:614576
Microphthalmia With Brain And Digit Anomalies
Finger syndactyly, Anophthalmia, Proximal placement of thumb, Cryptorchidism, Postaxial foot poly... ORPHA:139471
Okamoto Syndrome
Ureteropelvic junction obstruction, Depressed nasal bridge, Anteverted nares, Ventricular septal ... ORPHA:2729
Matthew-Wood Syndrome
Anophthalmia, Cryptorchidism, Renal hypoplasia, Aplasia/Hypoplasia of the pancreas, Horseshoe kid... ORPHA:2470
Chromosome 17Q11.2 Duplication Syndrome, 1.4-Mb
Hypospadias, Bifid nasal tip, Unilateral microphthalmos, Mitral valve prolapse, Macroorchidism, M... OMIM:618874
Mosaic Variegated Aneuploidy Syndrome 1
Wide nose, Multicystic kidney dysplasia, Depressed nasal bridge, Anteverted nares, Hypospadias, M... OMIM:257300
Cerebrofacioarticular Syndrome
Syndactyly, Hypospadias, Micrognathia, Bilateral choanal atresia/stenosis, Hypoplasia of the maxi... ORPHA:314679
Focal Dermal Hypoplasia
Ureteral duplication, Cleft ala nasi, Anophthalmia, Congenital hip dislocation, Osteopathia stria... OMIM:305600
Van Den Ende-Gupta Syndrome
Glenoid fossa hypoplasia, Micrognathia, Hypoplasia of the maxilla, 2-3 toe cutaneous syndactyly, ... OMIM:600920
Coffin-Siris Syndrome
Delayed eruption of teeth, Depressed nasal bridge, Anteverted nares, Ventricular septal defect, B... ORPHA:1465
Rubinstein-Taybi Syndrome
Finger syndactyly, Broad hallux phalanx, Abnormal distal phalanx morphology of finger, Micrognath... ORPHA:783
Fanconi Anemia, Complementation Group B
Ventricular septal defect, Optic disc hypoplasia, Aplastic anemia, Absent thumb, Hypergonadotropi... OMIM:300514
Congenital Disorder Of Glycosylation, Type Iu
Short nose, Micrognathia OMIM:615042
Opsismodysplasia
Short metacarpal, Depressed nasal bridge, Anteverted nares, Rhizomelia, Metaphyseal cupping, Hypo... OMIM:258480
Xeroderma Pigmentosum, Complementation Group G
Microphthalmia OMIM:278780
Recombinant 8 Syndrome
Ventricular septal defect, Depressed nasal bridge, Anteverted nares, Camptodactyly of finger, Mic... ORPHA:96167
Blepharophimosis-Intellectual Disability Syndrome, Ohdo Type
Proteinuria, Abnormal palmar dermatoglyphics, Cryptorchidism, Hypoplasia of teeth, Multiple bladd... ORPHA:2728
Aortic Valve Disease 1
Ventricular septal defect, Bicuspid aortic valve, Mitral atresia, Aortic valve calcification, Dou... OMIM:109730
Frontonasal Dysplasia 3
Microphthalmia, Wide nasal bridge, Underdeveloped nasal alae OMIM:613456
Ohdo Syndrome, X-Linked
Ulnar deviation of the hand, Depressed nasal bridge, Overlapping toe, Prominent nose, Micrognathi... OMIM:300895
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion
Bicuspid aortic valve, Atrial septal defect, Vesicoureteral reflux, Broad hallux, Hypospadias, Cr... ORPHA:353281
Dermotrichic Syndrome
Short nose, Aminoaciduria, Depressed nasal bridge, Anemia ORPHA:99688
Epidermolysis Bullosa, Lethal Acantholytic
Syndactyly, Natal tooth, Sandal gap, Widely spaced toes, Mitten deformity, Clinodactyly of the 5t... OMIM:609638
X-Linked Microcephaly-Growth Retardation-Prognathism-Cryptorchidism Syndrome
Mandibular prognathia, Finger syndactyly, Hypospadias, Single transverse palmar crease, Tapered f... ORPHA:435938
Desmosterolosis
Depressed nasal bridge, Renal agenesis, Micromelia, Abnormality of the nose, Metatarsus adductus,... ORPHA:35107
Meckel Syndrome, Type 1
Adrenal hypoplasia, Micrognathia, Asplenia, Accessory spleen, Syndactyly, Cryptorchidism, Patent ... OMIM:249000
Acrocallosal Syndrome
Mandibular prognathia, Clinodactyly of the 5th finger, Micropenis, Microretrognathia, Finger synd... OMIM:200990
Cardiofaciocutaneous Syndrome 1
Hyperextensibility of the finger joints, Depressed nasal bridge, Anteverted nares, Micrognathia, ... OMIM:115150
Deafness-Genital Anomalies-Metacarpal And Metatarsal Synostosis Syndrome
Finger syndactyly, Toe syndactyly, Hypospadias, Short hallux, Supernumerary nipple, Abnormal nasa... ORPHA:3224
Osteoporosis-Pseudoglioma Syndrome
Crumpled long bones, Isosexual precocious puberty, Metaphyseal widening, Abnormal femoral neck/he... ORPHA:2788
Achondrogenesis, Type Ia
Abnormal femoral metaphysis morphology, Hypoplastic nasal bridge, Hypoplastic scapulae, Anteverte... OMIM:200600
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 3
Hypoplasia of the ulna, Ureteral stenosis, Depressed nasal bridge, Anteverted nares, Hydroureter,... OMIM:615398
Chromosome 17P13.3, Telomeric, Duplication Syndrome
Contracture of the proximal interphalangeal joint of the 3rd finger, Short metacarpal, Brachydact... OMIM:612576
Alagille Syndrome
Hypoplasia of the ulna, Ventricular septal defect, Micrognathia, Long nose, Cryptorchidism, Renal... ORPHA:52
Frontorhiny
Camptodactyly of finger, Hypoplasia of the maxilla, Hypoplastic frontal sinuses, Finger clinodact... ORPHA:391474
Genitopatellar Syndrome
Congenital hip dislocation, Prominent nose, Micrognathia, Atrial septal defect, Micropenis, Hypot... OMIM:606170
Ulnar-Mammary Syndrome
Abnormal morphology of the radius, Hypoplasia of penis, Ventricular septal defect, Camptodactyly ... ORPHA:3138
Wiedemann-Rautenstrauch Syndrome
Micrognathia, Secundum atrial septal defect, Hypoplasia of the thymus, Genu varum, Long toe, Depr... OMIM:264090
Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To 5Q31.3 Microdeletion
Depressed nasal bridge, Anteverted nares, Micrognathia, Abnormal heart morphology, Polydactyly, S... ORPHA:314655
Microphthalmia With Cyst, Bilateral Facial Clefts, And Limb Anomalies
Optic nerve hypoplasia, Broad proximal phalanges of the hand, Choanal atresia, Bilateral micropht... OMIM:607597
Orofaciodigital Syndrome Type 2
Micrognathia, Complete duplication of hallux phalanx, Central retinal vessel vascular tortuosity,... ORPHA:2751
Intellectual Developmental Disorder With Impaired Language And Dysmorphic Facies
Overlapping toe, Supernumerary nipple, Tapered finger, Cryptorchidism, Arteria lusoria, 2-3 toe s... OMIM:618653
Atelis Syndrome 2
Single transverse palmar crease, Prominent nose, Micrognathia, Thrombocytopenia, Bulbous nose, Pa... OMIM:620185
Omenn Syndrome
Severe B lymphocytopenia, Eosinophilia, Splenomegaly, Thrombocytopenia, Lymphadenopathy, Hypoplas... OMIM:603554
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation
Ventricular septal defect, Prominent nasal bridge, Hypospadias, Tapered finger, Unilateral renal ... ORPHA:464311
Mend Syndrome
Overlapping fingers, Broad hallux, Prominent nasal bridge, Overlapping toe, Micrognathia, Long fi... ORPHA:401973
Trigonocephaly 1
Short nose, Long penis, Wide nasal bridge OMIM:190440
Chromosome 18Q Deletion Syndrome
Mandibular prognathia, Decreased response to growth hormone stimulation test, Proximal placement ... OMIM:601808
Neurodevelopmental Disorder With Microcephaly, Impaired Language, Epilepsy, And Gait Abnormalities
Syndactyly, Clinodactyly, Retrognathia, Arachnodactyly OMIM:619092
Dysraphism-Cleft Lip/Palate-Limb Reduction Defects Syndrome
Aplasia/Hypoplasia of the radius, Hypoplastic left heart, Ventricular septal defect ORPHA:2476
Growth Retardation, Developmental Delay, And Facial Dysmorphism
Ventricular septal defect, Anteverted nares, Cryptorchidism, Patent ductus arteriosus, Drumstick ... OMIM:612938
20Q11.2 Microduplication Syndrome
Depressed nasal bridge, Anteverted nares, Cryptorchidism, Wide nasal bridge, Micropenis, Short fo... ORPHA:363659
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome
Micrognathia, Metaphyseal widening, Renal neoplasm, Depressed nasal bridge, Anteverted nares, Ara... ORPHA:536467
Dubowitz Syndrome
Aplasia/Hypoplasia of the thumb, Abnormality of thumb phalanx, Micrognathia, Abnormality of neutr... ORPHA:235
Postaxial Acrofacial Dysostosis
Syndactyly, Hypoplasia of the ulna, Congenital hip dislocation, Choanal atresia, Supernumerary ni... OMIM:263750
Coffin-Siris Syndrome 7
Wide nose, Depressed nasal bridge, Anteverted nares, Bicuspid aortic valve, Ventricular septal de... OMIM:618027
19P13.12 Microdeletion Syndrome
Narrow nasal bridge, Finger syndactyly, Toe clinodactyly, Ventricular septal defect, Anteverted n... ORPHA:254346
Radio-Renal Syndrome
Renal dysplasia, Multicystic kidney dysplasia, Depressed nasal bridge, Renal agenesis, Micromelia... ORPHA:3015
Kbg Syndrome
Anteverted nares, Single transverse palmar crease, Prominent nasal bridge, Underdeveloped nasal a... ORPHA:2332
Hypomelanosis Of Ito
Syndactyly, Clinodactyly, Hand polydactyly, Radial deviation of finger OMIM:300337
Myhre Syndrome
Mandibular prognathia, Hypoplasia of the maxilla, Hypoplastic iliac wing, Atrial septal defect, P... OMIM:139210
Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum
Ventricular septal defect, Bicuspid aortic valve, Premature thelarche, Abnormal hand morphology, ... ORPHA:371428
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate
Ventricular septal defect, Hypospadias, Supernumerary nipple, Hypoplasia of the maxilla, Patent d... OMIM:106260
Peho Syndrome
Short nose, Retrognathia, Tapered finger OMIM:260565
Diamond-Blackfan Anemia 10
Macrocytic anemia, Ventricular septal defect, Choanal atresia, Micrognathia, Ectopic kidney, Pate... OMIM:613309
Sotos Syndrome
Mandibular prognathia, Depressed nasal bridge, Anteverted nares, Ventricular septal defect, Broad... OMIM:117550
Warburg Micro Syndrome 3
Micrognathia, Micropenis, Clinodactyly of the 5th finger, Microphthalmia, Short nose, Decreased t... OMIM:614222
Branchial Arch Abnormalities, Choanal Atresia, Athelia, Hearing Loss, And Hypothyroidism Syndrome
Single transverse palmar crease, Micrognathia, Choanal stenosis, Atrial septal defect, Hypothyroi... OMIM:620186
Abnormal Origin Of Right Or Left Pulmonary Artery From The Aorta
Ventricular septal defect, Patent ductus arteriosus, Arteria lusoria, Abnormal aortic arch morpho... ORPHA:99050
Myoclonic-Astatic Epilepsy
Syndactyly, Anteverted nares, Wide nasal bridge, Microphthalmia, Thick nasal alae ORPHA:1942
Epidermolysis Bullosa, Junctional 1B, Severe
Carious teeth, Syndactyly, Enamel hypoplasia OMIM:226700
Fanconi Anemia, Complementation Group L
Hypoplastic sacrum, Unilateral renal agenesis, Absent thumb, Absent radius, Micrognathia, Wide na... OMIM:614083
Feingold Syndrome 1
Accessory spleen, Ventricular septal defect, Anteverted nares, Tricuspid stenosis, Micrognathia, ... OMIM:164280
Poikiloderma With Neutropenia
Depressed nasal bridge, Underdeveloped nasal alae, Micrognathia, Carious teeth, Splenomegaly, Leu... OMIM:604173
Chromosome 15Q14 Deletion Syndrome
Atrial septal defect, Recurrent viral upper respiratory tract infections, Ventricular septal defect OMIM:616898
Kleefstra Syndrome Due To 9Q34 Microdeletion
Hypoplasia of penis, Renal insufficiency, Anteverted nares, Cryptorchidism, Conotruncal defect, C... ORPHA:96147
Faciodigitogenital Syndrome, Autosomal Recessive
Syndactyly, Anteverted nares, Prominent nasal bridge, Down-sloping shoulders, Metatarsus adductus... OMIM:227330
7Q11.23 Microduplication Syndrome
Ventricular septal defect, Single transverse palmar crease, Unilateral renal agenesis, Broad nasa... ORPHA:96121
Spondylometaepiphyseal Dysplasia, Short Limb-Hand Type
Micromelia, Bowing of the legs, Micrognathia, Depressed nasal ridge, Triangular shaped distal pha... OMIM:271665
8Q22.1 Microdeletion Syndrome
Finger syndactyly, Sandal gap, Camptodactyly of finger, Hypoplasia of the maxilla, Cryptorchidism... ORPHA:178303
Nablus Mask-Like Facial Syndrome
Depressed nasal bridge, Single transverse palmar crease, Anteverted nares, Tapered finger, Short ... OMIM:608156
Microform Holoprosencephaly
Narrow nasal bridge, Hypoplasia of penis, Midnasal stenosis, Anteverted nares, Choanal atresia, M... ORPHA:280200
Robin Sequence With Distinctive Facial Appearance And Brachydactyly
Ventricular septal defect, Prominent nasal bridge, Underdeveloped nasal alae, Micrognathia, Aplas... OMIM:608670
Ectodermal Dysplasia-Intellectual Disability-Central Nervous System Malformation Syndrome
Hypoplasia of penis, Sandal gap, Depressed nasal bridge, Abnormal dental enamel morphology, Super... ORPHA:1812
Monosomy 22
Finger syndactyly, Wide nose, Aplasia of the thymus, Single transverse palmar crease, Clubbing, H... ORPHA:96123
Leukodystrophy, Hypomyelinating, 10
Arachnodactyly, Anteverted nares, Bulbous nose, Malar flattening, Short nose OMIM:616420
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome
Bicuspid aortic valve, Ventricular septal defect, Underdeveloped nasal alae, Abnormal bladder mor... ORPHA:453499
Chromosome 14Q11-Q22 Deletion Syndrome
Depressed nasal bridge, Ventricular septal defect, Anterior pituitary hypoplasia, Micrognathia, B... OMIM:613457
Umbilical Cord Ulceration-Intestinal Atresia Syndrome
Abnormal aortic morphology, Ventricular septal defect, Abnormal tricuspid valve morphology, Anemia ORPHA:3405
Trisomy 10P
Thumb contracture, Absent gallbladder, Depressed nasal bridge, Anteverted nares, Abnormality of t... ORPHA:171929
Intellectual Developmental Disorder, Autosomal Dominant 1
Mandibular prognathia, Sandal gap, Prominent nose, Micrognathia, Bulbous nose, Depressed nasal ri... OMIM:156200
Chromosome 4Q32.1-Q32.2 Triplication Syndrome
Mandibular prognathia, Microretrognathia, Tapered finger, Intraventricular hemorrhage, Wide nasal... OMIM:613603
Geleophysic Dysplasia 1
Mitral stenosis, Anteverted nares, Tricuspid stenosis, Camptodactyly of finger, Coxa valga, Hypop... OMIM:231050
Ogden Syndrome
Microretrognathia, Broad hallux, Ventricular septal defect, Underdeveloped nasal alae, Cryptorchi... ORPHA:276432
Chromosome 13Q14 Deletion Syndrome
Ventricular septal defect, Single transverse palmar crease, Overlapping toe, Micrognathia, Supern... OMIM:613884
Mandibuloacral Dysplasia With Type B Lipodystrophy
Aplasia/Hypoplasia of the clavicles, Acroosteolysis of distal phalanges (feet), Abnormal fingerti... ORPHA:90154
Bartsocas-Papas Syndrome 1
Micrognathia, Hypoplasia of the maxilla, Bilateral cryptorchidism, Ectopic kidney, Hypoplastic il... OMIM:263650
Congenital Disorder Of Glycosylation, Type It
Decreased serum insulin-like growth factor 1, Ventricular septal defect, Micrognathia, Cardiomega... OMIM:614921
Adams-Oliver Syndrome 5
Syndactyly, Brachydactyly, Hypersplenism, Splenomegaly, Right atrial enlargement, Pulmonic stenos... OMIM:616028
Nasopalpebral Lipoma-Coloboma Syndrome
Wide nose, Hypoplasia of the maxilla, Recurrent upper respiratory tract infections, Bilateral mic... ORPHA:2399
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 1
Abnormal nasopharynx morphology, Absence of Stensen duct, Decreased response to growth hormone st... OMIM:129900
Facial Dysmorphism, Lens Dislocation, Anterior Segment Abnormalities, And Spontaneous Filtering Blebs
Wide nose, Arachnodactyly, Prominent nasal bridge, Broad hallux, Prominent nose, Cubitus valgus, ... OMIM:601552
Diamond-Blackfan Anemia
Radial artery aplasia, Pure red cell aplasia, Micrognathia, Reticulocytopenia, Leukopenia, Tripha... ORPHA:124
Hereditary Xanthinuria
Crystalluria, Recurrent urinary tract infections, Xanthine nephrolithiasis, Xanthinuria, Hydronep... ORPHA:3467
Bainbridge-Ropers Syndrome
Ulnar deviation of the hand, Depressed nasal bridge, Anteverted nares, Prominent nasal bridge, Un... OMIM:615485
Distal 22Q11.2 Microdeletion Syndrome
Bowing of the long bones, Toe syndactyly, Ventricular septal defect, Prominent nasal bridge, Choa... ORPHA:261330
Lathosterolosis
Toe syndactyly, Anteverted nares, Foam cells with lamellar inclusion bodies, Bilobate gallbladder... OMIM:607330
Atrial Septal Defect 1
Tetralogy of Fallot with pulmonary atresia, Ventricular septal defect, Bicuspid aortic valve, Sec... OMIM:108800
Hepatic Fibrosis-Renal Cysts-Intellectual Disability Syndrome
Multicystic kidney dysplasia, Anteverted nares, Underdeveloped nasal alae, Renal cyst, Clinodacty... ORPHA:2031
Developmental And Epileptic Encephalopathy 75
Cardiomyopathy, Short nose, Anteverted nares, Wide nasal bridge OMIM:618437
Cardiofaciocutaneous Syndrome
Depressed nasal bridge, Anteverted nares, Abnormal heart valve morphology, Abnormal morphology of... ORPHA:1340
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome
11 pairs of ribs, Accessory spleen, Severe B lymphocytopenia, Depressed nasal bridge, Tapered fin... OMIM:620005
Ciliary Dyskinesia, Primary, 30
Nasal polyposis, Ventricular septal defect, Dextrocardia, Situs inversus totalis, Nasal congestio... OMIM:616037
Lathosterolosis
Hypoplasia of penis, Toe syndactyly, Anteverted nares, Micrognathia, Bulbous nose, Postaxial hand... ORPHA:46059
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 8
Microphthalmia OMIM:614830
Eem Syndrome
Carious teeth, Finger syndactyly, Ectrodactyly ORPHA:1897
Lacrimoauriculodentodigital Syndrome
Micrognathia, Vesicoureteral reflux, Abnormal salivary gland morphology, Abnormal digit morpholog... ORPHA:2363
Codas Syndrome
Delayed eruption of teeth, Short humerus, Short metacarpal, Congenital hip dislocation, Ventricul... OMIM:600373
Joubert Syndrome 33
Splenomegaly, Syndactyly OMIM:617767
Neurodevelopmental Disorder With Seizures, Spasticity, And Complete Or Partial Agenesis Of The Corpus Callosum
Micrognathia, Tapered finger, Wide nasal bridge, Hypoplasia of teeth, Short nose, Retrognathia OMIM:620250
Meckel Syndrome
Accessory spleen, Ureteral duplication, Bowing of the long bones, Anophthalmia, Pancreatic fibros... ORPHA:564
Mitochondrial Complex I Deficiency, Nuclear Type 18
Hydroureter, Hydronephrosis OMIM:618240
Isolated Arrhinia
Aplasia/Hypoplasia of the nasal septum, Underdeveloped nasal alae, Hypoplasia of the nasal bone, ... ORPHA:1134
Deafness, X-Linked 7
Unilateral microphthalmos, Wide nasal bridge OMIM:301018
46,Xx Difference Of Sex Development-Anorectal Anomalies Syndrome
Multicystic kidney dysplasia, Hydroureter, Renal hypoplasia/aplasia, Abnormality of the urethra, ... ORPHA:2973
Serkal Syndrome
Abnormal penis morphology, Hypoplasia of the bladder, Ventricular septal defect, Renal agenesis, ... ORPHA:139466
Neu-Laxova Syndrome 1
Micromelia, Micrognathia, Calcaneovalgus deformity, Depressed nasal ridge, Patent foramen ovale, ... OMIM:256520
Charge Syndrome
Anophthalmia, Abnormal tibia morphology, Clinodactyly of the 5th finger, Vesicoureteral reflux, M... ORPHA:138
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1
Ventricular septal defect, Postaxial polydactyly, Abnormally large globe, Vascular ring, Atrial s... OMIM:603387
Craniofacial Dyssynostosis With Short Stature
Ventricular septal defect, Hypospadias, Cryptorchidism, Patent ductus arteriosus, Horseshoe kidne... OMIM:218350
Cardiac Diverticulum
Bicuspid aortic valve, Bicuspid pulmonary valve, Pulmonary artery hypoplasia, Atrial septal defec... ORPHA:1686
Kaufman Oculocerebrofacial Syndrome
Congenital hip dislocation, Ventricular septal defect, Depressed nasal bridge, Anteverted nares, ... OMIM:244450
Kabuki Syndrome
Duplicated collecting system, Hypoplasia of penis, Crossed fused renal ectopia, Hypospadias, Rena... ORPHA:2322
Fg Syndrome Type 1
Finger syndactyly, Limited elbow extension and supination, Broad toe, Hypospadias, Optic nerve hy... ORPHA:93932
Autosomal Recessive Spastic Paraplegia Type 20
Dysuria, Abnormality of the hand, Prominent nose, Abnormal thumb morphology, Abnormal hand morpho... ORPHA:101000
Microcephaly With Or Without Chorioretinopathy, Lymphedema, Or Impaired Intellectual Development
Mandibular prognathia, Depressed nasal bridge, Anteverted nares, Broad nasal tip, Microphthalmia OMIM:152950
Frontonasal Dysplasia-Alopecia-Genital Anomalies Syndrome
Depressed nasal bridge, Anteverted nares, Underdeveloped nasal alae, Cryptorchidism, Hypogonadism... ORPHA:228390
Right Pulmonary Artery, Anomalous Origin Of, Familial
Ventricular septal defect, Patent ductus arteriosus, Coarctation of aorta, Patent foramen ovale, ... OMIM:610338
Nijmegen Breakage Syndrome
Autoimmune hemolytic anemia, Sinusitis, Sandal gap, Choanal atresia, Recurrent urinary tract infe... OMIM:251260
Tetrasomy 5P
Anteverted nares, Overlapping toe, Short hallux, Micrognathia, Long fingers, Wide nasal bridge, T... ORPHA:3309
Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb
Mandibular prognathia, Bicuspid aortic valve, Single transverse palmar crease, Prominent nose, Mi... OMIM:612474
Rothmund-Thomson Syndrome, Type 2
Mandibular prognathia, Delayed eruption of teeth, Congenital hip dislocation, Depressed nasal bri... OMIM:268400
3Mc Syndrome 1
Ventricular septal defect, Single interphalangeal crease of fifth finger, Supernumerary nipple, P... OMIM:257920
Acromelic Frontonasal Dysostosis
Syndactyly, Dilation of Virchow-Robin spaces, Optic nerve hypoplasia, Broad nasal tip, Bifid nasa... OMIM:603671
Robin Sequence With Cleft Mandible And Limb Anomalies
Proximal placement of thumb, Prominent nose, Micrognathia, Clinodactyly of the 5th finger, Short ... OMIM:268305
Xanthinuria, Type I
Xanthinuria, Xanthine nephrolithiasis, Hydronephrosis, Pyelonephritis OMIM:278300
Galloway-Mowat Syndrome 3
Diffuse mesangial sclerosis, Arachnodactyly, Proteinuria, Micrognathia, Hip dislocation, Stage 5 ... OMIM:617729
Intellectual Developmental Disorder, X-Linked 98
Mandibular prognathia, Depressed nasal bridge, Anteverted nares, Prominent nasal bridge, Underdev... OMIM:300912
Macrocephaly, Neurodevelopmental Delay, Lymphoid Hyperplasia, And Persistent Fetal Hemoglobin
Ventricular septal defect, Persistence of primary teeth, Patent ductus arteriosus, Recurrent uppe... OMIM:619769
Down Syndrome
Brachydactyly, Depressed nasal bridge, Sandal gap, Renal hypoplasia/aplasia, Abnormality of the l... ORPHA:870
Transaldolase Deficiency
Pancytopenia, Ventricular septal defect, Depressed nasal bridge, Thrombocytopenia, Patent ductus ... OMIM:606003
Cataract 9, Multiple Types
Microphthalmia OMIM:604219
Velocardiofacial Syndrome
Hypoparathyroidism, Ventricular septal defect, Abnormality of the hand, Underdeveloped nasal alae... OMIM:192430
Renpenning Syndrome 1
Mandibular prognathia, Ventricular septal defect, Hypospadias, Micrognathia, Situs inversus total... OMIM:309500
Postaxial Acrofacial Dysostosis
Hypoplasia of the ulna, Finger syndactyly, Camptodactyly of finger, Supernumerary nipple, Microgn... ORPHA:246
Noonan Syndrome 9
Hydroureter, Ventricular septal defect, Cryptorchidism, Coarctation of aorta, Pulmonic stenosis OMIM:616559
Dysosteosclerosis
Delayed eruption of teeth, Craniofacial hyperostosis, Ventricular septal defect, Abnormal dental ... ORPHA:1782
Congenital Primary Aphakia
Microphthalmia, Aplasia/Hypoplasia affecting the anterior segment of the eye, Congenital aphakia ORPHA:83461
Down Syndrome
Single transverse palmar crease, Short palm, Hypoplastic iliac wing, Atrial septal defect, Atriov... OMIM:190685
Developmental Delay With Variable Intellectual Impairment And Behavioral Abnormalities
Depressed nasal bridge, Sandal gap, Tapered finger, Bulbous nose, Clinodactyly of the 5th finger,... OMIM:618430
Cleft Palate, Cardiac Defect, Genital Anomalies, And Ectrodactyly
Ventricular septal defect, Hypospadias, Cryptorchidism, Patent ductus arteriosus, Split hand, Clu... OMIM:600460
Wiskott-Aldrich Syndrome
Hemolytic anemia, Glomerulopathy, Sinusitis, Abnormal eosinophil morphology, Epistaxis, Microcyti... ORPHA:906
Fryns Microphthalmia Syndrome
Microphthalmia, Anophthalmia OMIM:600776
Neurodevelopmental Disorder With Microcephaly, Cataracts, And Renal Abnormalities
Epiphyseal dysplasia, Congenital hip dislocation, Micrognathia, Splenomegaly, Renal hypoplasia, N... OMIM:617913
Thiamine-Responsive Megaloblastic Anemia Syndrome
Diabetes mellitus, Ventricular septal defect, Megaloblastic anemia, Stroke, Atrial septal defect,... ORPHA:49827
Holoprosencephaly
Hypoplasia of penis, Anophthalmia, Abnormality of the spleen, Depressed nasal ridge, Panhypopitui... ORPHA:2162
Hypoglossia-Hypodactyly Syndrome
Finger syndactyly, Brachydactyly, Micrognathia, Adactyly, Split hand, Wide nasal bridge, Aplasia/... ORPHA:989
Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability
Hematuria, Microphthalmia ORPHA:1473
Radio-Tartaglia Syndrome
Depressed nasal bridge, Anteverted nares, Prominent nasal bridge, Ventricular septal defect, Tape... OMIM:619312
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 1
Microphthalmia, Cardiomyopathy OMIM:613155
Seckel Syndrome 9
Recurrent urinary tract infections, Ventricular septal defect, Micrognathia, Pulmonary artery hyp... OMIM:616777
Cockayne Syndrome Type 3
Renal insufficiency, Neurogenic bladder, Hydroureter, Unilateral renal agenesis, Carious teeth, S... ORPHA:90324
Arthrogryposis, Renal Dysfunction, And Cholestasis 2
Ventricular septal defect, Proteinuria, Nephrogenic diabetes insipidus, Nephrocalcinosis, Renal t... OMIM:613404
Peters Plus Syndrome
Ureteral duplication, Micromelia, Micrognathia, Bicuspid pulmonary valve, Abnormal pulmonary vein... ORPHA:709
Neurodegeneration With Developmental Delay, Early Respiratory Failure, Myoclonic Seizures, And Brain Abnormalities
Cryptorchidism, Patent ductus arteriosus, Atrial septal defect, Patent foramen ovale, Hydronephrosis OMIM:620327
Tetrasomy 9P
Micrognathia, Clinodactyly of the 5th finger, Micropenis, Patent foramen ovale, Amelogenesis impe... ORPHA:3310
Acrofrontofacionasal Dysostosis 2
Syndactyly, Wide nose, Broad hallux, Hypospadias, Hand polydactyly, Broad thumb OMIM:239710
Koolen-De Vries Syndrome Due To A Point Mutation
Hand muscle atrophy, Bicuspid aortic valve, Decreased response to growth hormone stimulation test... ORPHA:363965
17Q21.31 Microdeletion Syndrome
Hand muscle atrophy, Bicuspid aortic valve, Decreased response to growth hormone stimulation test... ORPHA:363958
Poland Syndrome
Aplasia/Hypoplasia of the thumb, Aplasia of the pectoralis major muscle, Ureterocele, Atrial sept... ORPHA:2911
Degcags Syndrome
Prominent nose, Micrognathia, Bilateral renal hypoplasia, Leukopenia, Iron deficiency anemia, Atr... OMIM:619488
Triploidy
Finger syndactyly, Hypoplasia of penis, Hypospadias, Micrognathia, Cryptorchidism, Abnormal cardi... ORPHA:3376
Diamond-Blackfan Anemia 1
Micrognathia, Depressed nasal ridge, Reticulocytopenia, Hypoplastic coccygeal vertebrae, Triphala... OMIM:105650
Neurodevelopmental Disorder With Dysmorphic Facies, Sleep Disturbance, And Brain Abnormalities
Mandibular prognathia, Recurrent urinary tract infections, Ventricular septal defect, Depressed n... OMIM:619103
Arboleda-Tham Syndrome
Mandibular prognathia, Secundum atrial septal defect, Bilateral cryptorchidism, Atrial septal def... OMIM:616268
Weill-Marchesani Syndrome 1
Ventricular septal defect, Depressed nasal bridge, Hypoplasia of the maxilla, Patent ductus arter... OMIM:277600
Distichiasis With Congenital Anomalies Of The Heart And Peripheral Vasculature
Varicose veins, Patent ductus arteriosus, Ventricular septal defect, Peripheral arterial stenosis OMIM:126320
Marshall-Smith Syndrome
Bowing of the long bones, Anteverted nares, Choanal atresia, Slender long bone, Short nose, Retro... ORPHA:561
Branchio-Oculo-Facial Syndrome
Multicystic kidney dysplasia, Renal agenesis, Broad nasal tip, Preaxial hand polydactyly, Wide na... ORPHA:1297
Triokinase And Fmn Cyclase Deficiency Syndrome
Microphthalmia, Dilated cardiomyopathy, Microcytic anemia OMIM:618805
Cri-Du-Chat Syndrome
Microretrognathia, Syndactyly, Short metacarpal, Hypospadias, Single transverse palmar crease, Ab... OMIM:123450
Microcephaly-Seizures-Intellectual Disability-Heart Disease Syndrome
Ventricular septal defect, Supernumerary nipple, Cryptorchidism, Postaxial hand polydactyly, Pate... ORPHA:2519
Intellectual Developmental Disorder, X-Linked, Syndromic, Hackmann-Di Donato Type
Arachnodactyly, Ventricular septal defect, Cryptorchidism, Aortic root aneurysm, Talipes equinova... OMIM:301039
Cantú Syndrome
Finger syndactyly, Broad hallux phalanx, Abnormal heart valve morphology, Anteverted nares, Short... ORPHA:1517
16P13.11 Microdeletion Syndrome
Ventricular septal defect, Depressed nasal bridge, Anteverted nares, Metatarsus valgus, Camptodac... ORPHA:261236
Sclerosteosis 1
Mandibular prognathia, Syndactyly, Depressed nasal bridge, 2-3 finger syndactyly, Wide nasal brid... OMIM:269500
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome
Severe B lymphocytopenia, Arachnodactyly, Single transverse palmar crease, Overlapping toe, Under... ORPHA:83617
Cortical Dysplasia, Complex, With Other Brain Malformations 6
Microphthalmia OMIM:615771
Microphthalmia, Syndromic 16
Microphthalmia, Anophthalmia OMIM:611038
Fixed Subaortic Stenosis
Bicuspid aortic valve, Ventricular septal defect, Cardiomegaly, Patent ductus arteriosus, Abnorma... ORPHA:3092
Marshall-Smith Syndrome
Bilateral cryptorchidism, Distal widening of metacarpals, Coxa vara, Choanal stenosis, Prominent ... OMIM:602535
Bardet-Biedl Syndrome
Finger syndactyly, Hypoplasia of penis, Multicystic kidney dysplasia, Prominent nasal bridge, Cry... ORPHA:110
Marshall Syndrome
Depressed nasal bridge, Anteverted nares, Micrognathia, Hypoplasia of the maxilla, Hypoplastic fr... ORPHA:560
Acrofacial Dysostosis, Palagonia Type
Finger syndactyly, Micrognathia, Bulbous nose, Supernumerary tooth, Small hand, Malar flattening,... ORPHA:1787
Galloway-Mowat Syndrome 1
Diffuse mesangial sclerosis, Renal insufficiency, Proteinuria, Narrow nasal ridge, Prominent nose... OMIM:251300
X-Linked Lissencephaly With Abnormal Genitalia
Hypoplasia of penis, Ventricular septal defect, Micrognathia, Cryptorchidism, Patent ductus arter... ORPHA:452
Oligomeganephronia
Renal insufficiency, Pulmonary venous occlusion, Proteinuria, Unilateral renal agenesis, Microgna... ORPHA:2260
Rnf13-Related Severe Early-Onset Epileptic Encephalopathy
Narrow nasal bridge, Tapered finger, Hip dysplasia, Finger joint hypermobility, Metacarpophalange... ORPHA:544503
8Q24.3 Microdeletion Syndrome
Ectopic posterior pituitary, Congenital hip dislocation, Single transverse palmar crease, Microme... ORPHA:508488
Neurodevelopmental Disorder With Neuromuscular And Skeletal Abnormalities
Depressed nasal bridge, Coxa valga, Micrognathia, Hammertoe, Hip dysplasia, Short nose, Acetabula... OMIM:619833
Microphthalmia, Syndromic 13
Microphthalmia OMIM:300915
X-Linked Intellectual Disability Due To Gria3 Mutations
Mandibular prognathia, Cryptorchidism, Macrodontia of permanent maxillary central incisor, Microp... ORPHA:364028
Blepharophimosis-Intellectual Disability Syndrome, Sbbys Type
Thyroid dysgenesis, Ventricular septal defect, Camptodactyly of finger, Prominent nose, Long nose... ORPHA:3047
Cornelia De Lange Syndrome 1
Single transverse palmar crease, Micromelia, Proximal placement of thumb, Micrognathia, Ectopic k... OMIM:122470
Retinal Degeneration With Nanophthalmos, Cystic Macular Degeneration, And Angle Closure Glaucoma
Microphthalmia OMIM:267760
Mosaic Variegated Aneuploidy Syndrome
Wide nose, Multicystic kidney dysplasia, Micrognathia, Depressed nasal ridge, Coarctation of aort... ORPHA:1052
Aphalangy-Hemivertebrae-Urogenital-Intestinal Dysgenesis Syndrome
Finger syndactyly, Toe syndactyly, Renal hypoplasia/aplasia, Elbow dislocation, Patent ductus art... ORPHA:1112
Smith-Kingsmore Syndrome
Rhizomelia, Depressed nasal bridge, Short proximal phalanx of finger, Cryptorchidism, Deep palmar... OMIM:616638
Microphthalmia, Isolated 5
Microphthalmia OMIM:611040
Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart
Syndactyly, Anteverted nares, Choanal atresia, Ventricular septal defect, Micrognathia, Hypospadi... OMIM:616975
Frontonasal Dysplasia 2
Aplasia of the nasal bone, Cleft ala nasi, Anteverted nares, Depressed nasal bridge, Wide nasal r... OMIM:613451
Craniotelencephalic Dysplasia
Microphthalmia, Septo-optic dysplasia ORPHA:1528
Diamond-Blackfan Anemia 5
Macrocytic anemia, Ventricular septal defect, Hypospadias, Erythroid hypoplasia, Reticulocytopeni... OMIM:612528
Holoprosencephaly 9
Anophthalmia, Depressed nasal bridge, Optic nerve hypoplasia, Hypoplasia of the premaxilla, Decre... OMIM:610829
Aplasia Cutis Congenita
Finger syndactyly, Toe syndactyly ORPHA:1114
Cebalid Syndrome
Anteverted nares, Short nose, Depressed nasal ridge, Depressed nasal bridge OMIM:618774
Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion
Decreased response to growth hormone stimulation test, Premature thelarche, Micropenis, Hypothyro... ORPHA:268261
Intellectual Developmental Disorder, Autosomal Dominant 53
Short femur, Ventricular septal defect, Cryptorchidism, Genu valgum, Micropenis, Hydronephrosis OMIM:617798
Desbuquois Dysplasia 2
Epiphyseal dysplasia, Short metacarpal, Depressed nasal bridge, Single transverse palmar crease, ... OMIM:615777
Cleft Lip/Palate-Ectodermal Dysplasia Syndrome
Finger syndactyly, Toe syndactyly, Abnormal dental enamel morphology, Micrognathia, Carious teeth... ORPHA:3253
Blepharonasofacial Malformation Syndrome
Finger syndactyly, Wide nose, Underdeveloped nasal alae, Cryptorchidism, Wide nasal bridge ORPHA:1252
Craniotelencephalic Dysplasia
Microphthalmia, Optic nerve hypoplasia OMIM:218670
Cerebellofaciodental Syndrome
Ventricular septal defect, Single transverse palmar crease, Tapered finger, Cryptorchidism, Denta... OMIM:616202
Phelan-Mcdermid Syndrome
Ventricular septal defect, Abnormality of the kidney, Micrognathia, Bulbous nose, Patent ductus a... OMIM:606232
Hypotonia, Infantile, With Psychomotor Retardation
Cryptorchidism, Ventricular septal defect OMIM:616816
Neurodevelopmental Disorder With Language Delay And Behavioral Abnormalities, With Or Without Seizures
Bulbous nose, Wide nasal bridge, Short nose OMIM:620292
Fraser Syndrome 3
Hypoplasia of the bladder, Wide nose, Hypoplasia of penis, Micrognathia, Short toe, Cutaneous syn... OMIM:617667
Townes-Brocks Syndrome 1
Short metatarsal, Triphalangeal thumb, Atrial septal defect, Vesicoureteral reflux, Hypothyroidis... OMIM:107480
Townes-Brocks Syndrome
Hypoplasia of penis, Ectopic kidney, Triphalangeal thumb, Clinodactyly of the 5th finger, Atrial ... ORPHA:857
Fetal Hydantoin Syndrome
Cryptorchidism, Depressed nasal ridge, Triphalangeal thumb, Short nose, Short distal phalanx of f... ORPHA:1912
Monosomy 13Q14
Aplasia/Hypoplasia of the thumb, Finger syndactyly, Prominent nasal bridge, Micrognathia, Wide na... ORPHA:1587
Doors Syndrome
Adrenal hyperplasia, Abnormal finger morphology, Nephrocalcinosis, Triphalangeal thumb, Clinodact... ORPHA:79500
Chromosome 6Pter-P24 Deletion Syndrome
Broad toe, Ventricular septal defect, Depressed nasal bridge, Rocker bottom foot, Patent ductus a... OMIM:612582
Desmosterolosis
Hypoplastic nasal bridge, Rhizomelia, Anteverted nares, Micrognathia, Patent ductus arteriosus, B... OMIM:602398
Meier-Gorlin Syndrome 6
Microretrognathia, Anteverted nares, Depressed nasal bridge, Sandal gap, Underdeveloped nasal ala... OMIM:616835
Intellectual Developmental Disorder, Autosomal Dominant 48
Bicuspid aortic valve, Ventricular septal defect, Anteverted nares, Prominent nasal bridge, Hypos... OMIM:617751
Emanuel Syndrome
Delayed eruption of teeth, Broad jaw, Congenital hip dislocation, Truncus arteriosus, Ventricular... ORPHA:96170
Short Stature, Developmental Delay, And Congenital Heart Defects
Atrial septal defect, Patent foramen ovale, Patent ductus arteriosus, Ventricular septal defect OMIM:617044
Schinzel-Giedion Syndrome
Micrognathia, Renal cyst, Tibial bowing, Choanal stenosis, Myeloid leukemia, Micropenis, Streak o... ORPHA:798
White-Kernohan Syndrome
Hydroureter, Depressed nasal bridge, Anteverted nares, Underdeveloped nasal alae, Horseshoe kidne... OMIM:619426
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation
Bicuspid aortic valve, Optic nerve hypoplasia, Ventricular septal defect, Broad nasal tip, Underd... ORPHA:453504
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion
Bicuspid aortic valve, Optic nerve hypoplasia, Ventricular septal defect, Broad nasal tip, Underd... ORPHA:352665
Roberts-Sc Phocomelia Syndrome
Micrognathia, Tetraphocomelia, Atrial septal defect, Phocomelia, Wrist flexion contracture, Hyper... OMIM:268300
Basal Cell Nevus Syndrome 1
Mandibular prognathia, Ovarian fibroma, Down-sloping shoulders, Palmar pits, Irregular ossificati... OMIM:109400
Macrocephaly/Autism Syndrome
Dilation of Virchow-Robin spaces, Depressed nasal bridge, Penile freckling, Splenomegaly, Hydroce... OMIM:605309
Tetrasomy 18P
Large hands, Short nose ORPHA:3307
Baraitser-Winter Syndrome 2
Microphthalmia, Retrognathia OMIM:614583
Lissencephaly 8
Microphthalmia, Talipes equinovarus OMIM:617255
Oculocerebral Hypopigmentation Syndrome, Cross Type
Ureteral stenosis, Arachnodactyly, Depressed nasal bridge, Anteverted nares, Abnormal thumb morph... ORPHA:2719
Craniofaciofrontodigital Syndrome
Prominent superficial veins, Anomalous branches of internal carotid artery, Bicuspid aortic valve... ORPHA:363705
Proboscis Lateralis
Aplasia/Hypoplasia of the maxilla, Anophthalmia, Ventricular septal defect, Optic nerve hypoplasi... ORPHA:141099
Tetraamelia Syndrome 1
Renal agenesis, Choanal atresia, Micrognathia, Asplenia, Single naris, Urethral atresia, Hypoplas... OMIM:273395
Toriello-Carey Syndrome
Micrognathia, Cryptorchidism, Clinodactyly, Patent ductus arteriosus, Coarctation of aorta, Cardi... ORPHA:3338
Difference Of Sex Development-Intellectual Disability Syndrome
Short nose, Hypoplasia of penis, Hypogonadism, Genu valgum ORPHA:2983
Neurodevelopmental Disorder With Microcephaly, Impaired Language, And Gait Abnormalities
Syndactyly, Clinodactyly OMIM:619091
Saethre-Chotzen Syndrome
Hallux valgus, Syndactyly, Absent first metatarsal, Toe syndactyly, Partial duplication of the di... OMIM:101400
Ogden Syndrome
Congenital hip dislocation, Bicuspid aortic valve, Maternal diabetes, Cardiomegaly, Secundum atri... OMIM:300855
Spondylo-Ocular Syndrome
Microphthalmia, Aplasia/Hypoplasia of the lens, Ventricular septal defect ORPHA:85194
Orotic Aciduria
Orotic acid crystalluria, Ventricular septal defect, Anisocytosis, Folate-unresponsive megaloblas... OMIM:258900
Microphthalmia/Coloboma And Skeletal Dysplasia Syndrome
Anophthalmia, Rhizomelia, Hypospadias, Precocious puberty, 2-3 toe syndactyly, Microphthalmia, 3-... OMIM:615877
Encephalomyopathy, Mitochondrial, Due To Voltage-Dependent Anion Channel Deficiency
Syndactyly, Ketonuria, Depressed nasal bridge, Anemia, Aminoaciduria, Bone marrow hypocellularity... OMIM:614520
Developmental And Epileptic Encephalopathy 85 With Or Without Midline Brain Defects
Contracture of the proximal interphalangeal joint of the 3rd finger, Anteverted nares, Choanal at... OMIM:301044
Microphthalmia, Syndromic 11
Microphthalmia, Agenesis of pineal gland OMIM:614402
Acro-Renal-Mandibular Syndrome
Hypoplasia of the ulna, Finger syndactyly, Hypoplastic scapulae, Micrognathia, Renal hypoplasia/a... ORPHA:958
Charcot-Marie-Tooth Disease, Type 4B3
Syndactyly, Urinary incontinence OMIM:615284
Neurodevelopmental Disorder With Microcephaly, Seizures, And Cortical Atrophy
Natal tooth, Short nose, Depressed nasal bridge, Micrognathia OMIM:617802
Transketolase Deficiency
Increased level of ribose in urine, Ventricular septal defect, Abnormal coronary artery course, P... ORPHA:488618
Mckusick-Kaufman Syndrome
Syndactyly, Congenital hip dislocation, Hydroureter, Mesoaxial hand polydactyly, Cryptorchidism, ... OMIM:236700
Primary Non-Essential Cutis Verticis Gyrata
Atrial septal defect, Ventricular septal defect ORPHA:357225
Igg4-Related Kidney Disease
Lymphadenitis, Renal interstitial immunoglobulin deposits, Sterile pyuria, Tubulointerstitial nep... ORPHA:449395
Larsen Syndrome
Finger syndactyly, Brachydactyly, Depressed nasal bridge, Cryptorchidism, Accessory carpal bones,... ORPHA:503
Autosomal Dominant Robinow Syndrome
Hypoplasia of penis, Micromelia, Micrognathia, Epispadias, Coxa vara, Short palm, Clinodactyly of... ORPHA:3107
Craniofacial Dysmorphism, Skeletal Anomalies, And Impaired Intellectual Development Syndrome 1
Hyperextensibility of the finger joints, Wide nose, Anteverted nares, Overlapping toe, Decreased ... OMIM:213980
Vitamin K-Dependent Clotting Factors, Combined Deficiency Of, 1
Epistaxis, Cerebral hemorrhage, Epiphyseal stippling, Short nose, Short distal phalanx of finger OMIM:277450
Multifocal Atrial Tachycardia
Ventricular septal defect, Hypothyroidism, Cryptorchidism, Pulmonic stenosis, Atrial septal defec... ORPHA:3282
Yuan-Harel-Lupski Syndrome
Wide nose, Ventricular septal defect, Bicuspid aortic valve, Sandal gap, Aortic root aneurysm, Cl... OMIM:616652
X-Linked Female Restricted Facial Dysmorphism-Short Stature-Choanal Atresia-Intellectual Disability
Congenital hip dislocation, Prominent nose, Atrial septal defect, Depressed nasal bridge, Tapered... ORPHA:480880
19P13.13 Microdeletion Syndrome
Depressed nasal bridge, Anteverted nares, Optic nerve hypoplasia, Sandal gap, Long fingers, Malar... ORPHA:357001
Acrofrontofacionasal Dysostosis 1
Mandibular prognathia, Short metacarpal, Wide nasal bridge, Microphthalmia, Acetabular dysplasia,... OMIM:201180
Neurodevelopmental Disorder With Coarse Facies And Mild Distal Skeletal Abnormalities
Mandibular prognathia, Syndactyly, Depressed nasal bridge, Prominent nasal bridge, Cryptorchidism... OMIM:618505
Papillorenal Syndrome
Renal malrotation, Multicystic kidney dysplasia, Proteinuria, Absence of renal corticomedullary d... OMIM:120330
Gm1 Gangliosidosis
Mandibular prognathia, Depressed nasal bridge, Ventricular septal defect, Camptodactyly of finger... ORPHA:354
1P36 Deletion Syndrome
Hypoplasia of penis, Abnormality of the spleen, Depressed nasal ridge, Renal cyst, Clinodactyly o... ORPHA:1606
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome
Hypoparathyroidism, Renal dysplasia, Renal insufficiency, Diabetes mellitus, Unilateral renal age... ORPHA:2237
Brachial Amelia, Cleft Lip, And Holoprosencephaly
Short femur, Ventricular septal defect, Foot oligodactyly, Amelia OMIM:601357
Vacterl With Hydrocephalus
Absence of the sacrum, Anophthalmia, Renal agenesis, Micrognathia, Renal hypoplasia/aplasia, Cryp... ORPHA:3412
Alpha-Thalassemia-X-Linked Intellectual Disability Syndrome
Hypoplasia of penis, Recurrent urinary tract infections, Anteverted nares, Abnormal hemoglobin, A... ORPHA:847
Viss Syndrome
Tortuous cerebral arteries, Epidural hemorrhage, Micrognathia, Right ventricular dilatation, Atri... OMIM:619472
Lenz-Majewski Hyperostotic Dwarfism
Mandibular prognathia, Hyperextensibility of the finger joints, Syndactyly, Prominent scalp veins... OMIM:151050
Hypomandibular Faciocranial Dysostosis
Anteverted nares, Patent ductus arteriosus, Choanal stenosis, Atrial septal defect, Short nose, M... ORPHA:1790
Coffin-Siris Syndrome 4
Narrow nasal bridge, Wide nose, Depressed nasal bridge, Anteverted nares, Ventricular septal defe... OMIM:614609
Weill-Marchesani Syndrome 2
Short metacarpal, Ventricular septal defect, Depressed nasal bridge, Hypoplasia of the maxilla, P... OMIM:608328
X-Linked Intellectual Disability, Nascimento Type
Depressed nasal bridge, Ventricular septal defect, Overlapping toe, Underdeveloped nasal alae, Hy... ORPHA:163956
Tatton-Brown-Rahman Syndrome
Ventricular septal defect, Anteverted nares, Optic nerve hypoplasia, Vesicoureteral reflux, Short... OMIM:615879
Rabson-Mendenhall Syndrome
Mandibular prognathia, Increased pineal volume, Wide nose, Enlarged ovaries, Anteverted nares, Pr... ORPHA:769
Nicolaides-Baraitser Syndrome
Narrow nasal bridge, Long toe, Short metacarpal, Hallux valgus, Anteverted nares, Single transver... OMIM:601358
Kabuki Syndrome 1
Ureteropelvic junction obstruction, Prominent fingertip pads, Hemolytic anemia, Congenital hip di... OMIM:147920
Orofaciodigital Syndrome I
Microretrognathia, Syndactyly, Proteinuria, Underdeveloped nasal alae, Carious teeth, Pancreatic ... OMIM:311200
Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome
Congenital hip dislocation, Bicuspid aortic valve, Ventricular septal defect, Supernumerary nippl... ORPHA:457279
Microcephaly 20, Primary, Autosomal Recessive
Optic nerve hypoplasia, Renal hypoplasia, Ureteral agenesis, Bilateral renal agenesis, Microphtha... OMIM:617914
Alagille Syndrome 1
Long nose, Multiple small medullary renal cysts, Papillary thyroid carcinoma, Vesicoureteral refl... OMIM:118450
Phace Syndrome
Optic nerve hypoplasia, Cerebral arteriovenous malformation, Lens coloboma, Abnormal heart morpho... ORPHA:42775
Ring Chromosome 12 Syndrome
Syndactyly, Secundum atrial septal defect, Cryptorchidism, Abnormal 5th finger morphology, Glandu... ORPHA:1439
Microphthalmia, Syndromic 3
Optic nerve aplasia, Anophthalmia, Ventricular septal defect, Optic nerve hypoplasia, Anterior pi... OMIM:206900
Renal Agenesis
Renal insufficiency, Renal agenesis, Ventricular septal defect, Proteinuria, Unilateral renal age... ORPHA:411709
Developmental And Epileptic Encephalopathy 1
Microphthalmia, Micropenis OMIM:308350
Igg4-Related Retroperitoneal Fibrosis
Normocytic anemia, Renal insufficiency, Dysuria, Large vessel vasculitis, Renovascular hypertensi... ORPHA:49041
Cornelia De Lange Syndrome
Hypoplasia of penis, Micromelia, Proximal placement of thumb, Micrognathia, Clinodactyly of the 5... ORPHA:199
Ring Chromosome 7 Syndrome
Mandibular prognathia, Anteverted nares, Prominent nasal bridge, Single transverse palmar crease,... ORPHA:1449
Hyposmia-Nasal And Ocular Hypoplasia-Hypogonadotropic Hypogonadism Syndrome
Hypoplasia of penis, Anophthalmia, Failure of eruption of permanent teeth, Cryptorchidism, Anosmi... ORPHA:2250
Skin Creases, Congenital Symmetric Circumferential, 1
Depressed nasal bridge, Micrognathia, Long fingers, Hypoplastic nipples, Microphthalmia OMIM:156610
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 1, With Or Without Fractures
Bicuspid aortic valve, Micrognathia, Metaphyseal widening, Delayed proximal femoral epiphyseal os... OMIM:271640
Van Esch-O'Driscoll Syndrome
Ventricular septal defect, Depressed nasal bridge, Hypogonadotropic hypogonadism, Pulmonary arter... OMIM:301030
Short-Rib Thoracic Dysplasia 12
Natal tooth, Hypoplastic scapulae, Ventricular septal defect, Bowing of the legs, Splenomegaly, S... OMIM:269860
Proteus-Like Syndrome
Mandibular prognathia, Thymus hyperplasia, Anteverted nares, Venous insufficiency, Splenomegaly, ... ORPHA:2969
Neurodevelopmental Disorder With Movement Abnormalities, Abnormal Gait, And Autistic Features
Depressed nasal bridge, Talipes equinovarus, Advanced eruption of teeth, Short nose, Broad columella OMIM:617865
Muscular Hypertrophy-Hepatomegaly-Polyhydramnios Syndrome
Microphthalmia ORPHA:324416
Gaucher Disease, Perinatal Lethal
Depressed nasal bridge, Anteverted nares, Micrognathia, Cardiomegaly, Thrombocytopenia, Splenomeg... OMIM:608013
Skin Creases, Congenital Symmetric Circumferential, 2
Depressed nasal bridge, Hypospadias, Tapered finger, Micrognathia, Long fingers, Carious teeth, C... OMIM:616734
Monosomy 9P
Ureteropelvic junction obstruction, Depressed nasal bridge, Anteverted nares, Choanal atresia, Pr... ORPHA:261112
Keutel Syndrome
Sinusitis, Ventricular septal defect, Depressed nasal bridge, Cartilaginous ossification of nose,... OMIM:245150
Cutis Marmorata Telangiectatica Congenita
Finger syndactyly, Multicystic kidney dysplasia, Toe syndactyly, Micrognathia, Patent ductus arte... ORPHA:1556
Opitz-Kaveggia Syndrome
Syndactyly, Broad hallux, Single transverse palmar crease, Choanal atresia, Prominent nose, Micro... OMIM:305450
Adams-Oliver Syndrome 1
Toe syndactyly, Bicuspid aortic valve, Ventricular septal defect, Supernumerary nipple, Pulmonary... OMIM:100300
Junctional Epidermolysis Bullosa With Pyloric Atresia
Urethral stricture, Urinary bladder inflammation, Hydronephrosis, Hematuria, Aplasia of the bladd... ORPHA:79403
Dubowitz Syndrome
Delayed eruption of teeth, Syndactyly, Aplastic anemia, Prominent nasal bridge, Single transverse... OMIM:223370
15Q11.2 Microdeletion Syndrome
Ventricular septal defect, Abnormal heart morphology, Coarctation of aorta, Total anomalous pulmo... ORPHA:261183
Warsaw Breakage Syndrome
Ventricular septal defect, Single transverse palmar crease, 2-3 toe syndactyly, Clinodactyly of t... OMIM:613398
Intellectual Developmental Disorder With Or Without Epilepsy Or Cerebellar Ataxia
Cryptorchidism, Hydronephrosis OMIM:618060
Coffin-Siris Syndrome 1
Single transverse palmar crease, Ectopic kidney, Prominent interphalangeal joints, Prominent fing... OMIM:135900
Tetrasomy 12P
Delayed eruption of teeth, Short nose, Anteverted nares ORPHA:884
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation
Generalized lymphadenopathy, Aplasia of the thymus, Eosinophilia, Splenomegaly, Recurrent upper r... OMIM:602450
Goldberg-Shprintzen Syndrome
Ventricular septal defect, Prominent nasal bridge, Tapered finger, Hypoplasia of the maxilla, Bul... OMIM:609460
Neurodevelopmental Disorder With Dysmorphic Facies, Impaired Speech, And Hypotonia
Decreased hemoglobin concentration, Depressed nasal bridge, Anteverted nares, Underdeveloped nasa... OMIM:619005
Coloboma, Osteopetrosis, Microphthalmia, Macrocephaly, Albinism, And Deafness
Clinodactyly of the 5th finger, Microphthalmia, Micrognathia OMIM:617306
Delpire-Mcneill Syndrome
Ventricular septal defect, Hip dislocation OMIM:619083
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome
Finger syndactyly, Toe syndactyly, Depressed nasal bridge, Hand polydactyly, Foot polydactyly, Ar... ORPHA:60040
Neurocardiofaciodigital Syndrome
Syndactyly, Patent ductus arteriosus, Retrognathia, Vesicoureteral reflux, Double inlet left vent... OMIM:619869
Cadds
Short nose, Adrenal hypoplasia, Micrognathia ORPHA:369942
White Forelock With Malformations
Atrial septal defect, Finger syndactyly, Clinodactyly of the 5th finger ORPHA:2475
Rapp-Hodgkin Syndrome
Syndactyly, Depressed nasal bridge, Hypospadias, Supernumerary nipple, Underdeveloped nasal alae,... OMIM:129400
Noonan Syndrome 2
Abnormal coronary artery origin, Mitral stenosis, Ventricular septal defect, Micrognathia, Crypto... OMIM:605275
Mitochondrial Short-Chain Enoyl-Coa Hydratase 1 Deficiency
Hypertrophic cardiomyopathy, Ventricular septal defect OMIM:616277
Lymphedema-Distichiasis Syndrome
Ventricular septal defect, Micrognathia, Patent ductus arteriosus, Varicose veins, Microphthalmia... OMIM:153400
Fanconi Anemia, Complementation Group N
Short thumb, Aplastic anemia, Ventricular septal defect, Nephroblastoma OMIM:610832
Geleophysic Dysplasia 2
Mitral stenosis, Tricuspid stenosis, Mitral valve prolapse, Cone-shaped epiphysis, Short foot, Ao... OMIM:614185
Hallermann-Streiff Syndrome
Natal tooth, Choanal atresia, Underdeveloped nasal alae, Micrognathia, Hypothyroidism, Supernumer... ORPHA:2108
Orofaciodigital Syndrome Type 4
Micromelia, Micrognathia, Depressed nasal ridge, Aplasia/Hypoplasia of the tibia, Genu varum, Fin... ORPHA:2753
Autosomal Recessive Faciodigitogenital Syndrome
Finger syndactyly, Anteverted nares, Prominent nasal bridge, Down-sloping shoulders, Micrognathia... ORPHA:1974
Microphthalmia, Isolated 8
Microphthalmia, Anophthalmia, Optic nerve hypoplasia, True anophthalmia OMIM:615113
Hajdu-Cheney Syndrome
Wide nose, Ventricular septal defect, Anteverted nares, Hypospadias, Micrognathia, Absent frontal... OMIM:102500
Hardikar Syndrome
Vesicoureteral reflux, Atrial septal defect, Bladder exstrophy, Patent foramen ovale, Patent duct... OMIM:301068
Corpus Callosum Agenesis-Intellectual Disability-Coloboma-Micrognathia Syndrome
Ventricular septal defect, Prominent nasal bridge, Choanal atresia, Patent ductus arteriosus, Ret... ORPHA:52055
20P13 Microdeletion Syndrome
Finger syndactyly, Prominent nasal bridge, Polydactyly, Clinodactyly, Brachydactyly ORPHA:313781
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5
Left ventricular hypertrophy, Microphthalmia OMIM:613153
Desmoid Tumor
Hydronephrosis, Abnormality of the upper urinary tract ORPHA:873
Intellectual Developmental Disorder With Microcephaly And Pontine And Cerebellar Hypoplasia
Prominent nasal bridge, Optic nerve hypoplasia, Abnormally large globe, Broad nasal tip, Microgna... OMIM:300749
Foxg1 Syndrome Due To 14Q12 Microdeletion
Mandibular prognathia, Bulbous nose, Depressed nasal bridge, Short nose ORPHA:261144
Neurodegeneration With Brain Iron Accumulation 2A
Short nose, Micrognathia OMIM:256600
Silver-Russell Syndrome Due To Maternal Uniparental Disomy Of Chromosome 7
Syndactyly, Narrow joint spaces of the elbow, Hypospadias, Decreased response to growth hormone s... ORPHA:96182
Noonan Syndrome 8
Ventricular septal defect, Cryptorchidism, Patent ductus arteriosus, Pulmonic stenosis, Palmoplan... OMIM:615355
Gomez-Lopez-Hernandez Syndrome
Malar flattening, Short nose, Anteverted nares, Decreased response to growth hormone stimulation ... OMIM:601853
Joubert Syndrome 17
Abnormal renal morphology, Preaxial polydactyly, Postaxial polydactyly, 3-4 finger syndactyly OMIM:614615
Atresia Of Urethra
Renal dysplasia, Renal insufficiency, Bladder fistula, Hydroureter, Recurrent urinary tract infec... ORPHA:105
Combined Immunodeficiency-Enteropathy Spectrum
Autoimmune hemolytic anemia, Ventricular septal defect, Hypoplasia of the thymus, Type I diabetes... ORPHA:436252
Autosomal Recessive Spondylocostal Dysostosis
Finger syndactyly, Depressed nasal bridge, Anteverted nares, Camptodactyly of finger, Hypospadias... ORPHA:2311
Alopecia-Contractures-Dwarfism-Intellectual Disability Syndrome
Finger syndactyly, Abnormal dental enamel morphology, Prominent nose, Abnormality of the elbow, H... ORPHA:1005
Acrocephalopolydactylous Dysplasia
Pancreatic fibrosis, Micromelia, Postaxial hand polydactyly, Polysplenia, Short nose, Cystic rena... OMIM:200995
Noonan Syndrome 3
Juvenile myelomonocytic leukemia, Hypoplastic nasal bridge, Anteverted nares, Ventricular septal ... OMIM:609942
Warburg Micro Syndrome 4
Anteverted nares, Prominent nasal bridge, Cryptorchidism, Microphthalmia, Micropenis, Decreased t... OMIM:615663
Moebius Syndrome
Aplasia/Hypoplasia of the thumb, Finger syndactyly, Brachydactyly, Hypogonadotropic hypogonadism,... ORPHA:570
Coloboma-Obesity-Hypogenitalism-Mental Retardation Syndrome
Microphthalmia, Hypogonadism, Cryptorchidism OMIM:601794
Hennekam Syndrome
Delayed eruption of teeth, Finger syndactyly, Lymphopenia, Depressed nasal bridge, Camptodactyly ... ORPHA:2136
16Q24.3 Microdeletion Syndrome
Ventricular septal defect, Anteverted nares, Optic nerve hypoplasia, Proximal placement of thumb,... ORPHA:261250
Intellectual Developmental Disorder, Autosomal Dominant 71, With Behavioral Abnormalities
Mandibular prognathia, Ventricular septal defect, Optic nerve hypoplasia, Sandal gap, Broad nasal... OMIM:620330
Primary Hyperaldosteronism-Seizures-Neurological Abnormalities Syndrome
Ventricular hypertrophy, Adrenal hyperplasia, Ventricular septal defect, Epistaxis, Abnormal circ... ORPHA:369929
Osteopetrosis, Autosomal Recessive 8
Splenomegaly, Thrombocytopenia, Unilateral microphthalmos, Anemia OMIM:615085
Mosaic Trisomy 20
Ventricular septal defect, Down-sloping shoulders, Abnormality of the kidney, Micrognathia, Crypt... ORPHA:1724
Tall Stature-Intellectual Disability-Renal Anomalies Syndrome
Renal malrotation, Multicystic kidney dysplasia, Transient neutropenia, Ventricular septal defect... ORPHA:500095
Aase-Smith Syndrome I
Slender finger, Ventricular septal defect, Talipes equinovarus OMIM:147800
Isolated Klippel-Feil Syndrome
Abnormal shoulder morphology, Ventricular septal defect, Renal hypoplasia/aplasia ORPHA:2345
Brachycephaly, Deafness, Cataract, Microstomia, And Impaired Intellectual Development
Depressed nasal bridge, Rocker bottom foot, Tapered finger, Cryptorchidism, Finger clinodactyly, ... OMIM:601353
Microcephalic Osteodysplastic Primordial Dwarfism, Type I
Single transverse palmar crease, Micromelia, Prominent nose, Micrognathia, Delayed epiphyseal oss... OMIM:210710
Larsen Syndrome
Short metacarpal, Ventricular septal defect, Depressed nasal bridge, Spatulate thumbs, Elbow disl... OMIM:150250
Bannayan-Riley-Ruvalcaba Syndrome
Neoplasm of the adrenal cortex, Wide nose, Anteverted nares, Hashimoto thyroiditis, Micrognathia,... ORPHA:109
Occipital Horn Syndrome
Short humerus, Pelvic bone exostoses, Coxa valga, Ureteral obstruction, Capitate-hamate fusion, G... OMIM:304150
Fraser Syndrome 1
Aplasia/Hypoplasia of the thumb, Cleft ala nasi, Anophthalmia, Cutaneous finger syndactyly, Choan... OMIM:219000
Ataxia-Telangiectasia
Sinusitis, Diabetes mellitus, Female hypogonadism, Acute lymphoblastic leukemia, T lymphocytopeni... OMIM:208900
Meier-Gorlin Syndrome 7
2-4 finger syndactyly, Urethral stricture, Ventricular septal defect, Choanal atresia, Hypospadia... OMIM:617063
Tbck-Related Intellectual Disability Syndrome
Mandibular prognathia, Broad toe, 11 pairs of ribs, Hyperthyroidism, Ventricular septal defect, D... ORPHA:488632
Colobomatous Microphthalmia-Obesity-Hypogenitalism-Intellectual Disability Syndrome
Microphthalmia, Hypogonadism, Cryptorchidism ORPHA:363741
Witteveen-Kolk Syndrome
Decreased response to growth hormone stimulation test, Proximal placement of thumb, Intracranial ... OMIM:613406
Hyperphosphatasia With Impaired Intellectual Development Syndrome 3
Broad nasal tip, Wide nasal bridge, Shortening of all distal phalanges of the fingers, Atrial sep... OMIM:614207
Autosomal Dominant Popliteal Pterygium Syndrome
Finger syndactyly, Toe syndactyly, Choanal atresia, Micrognathia, Cryptorchidism, Split hand, Fib... ORPHA:1300
X-Linked Intellectual Disability, Cantagrel Type
Short nose ORPHA:85277
Microcephaly And Chorioretinopathy, Autosomal Recessive, 1
Microphthalmia OMIM:251270
Multiple Benign Circumferential Skin Creases On Limbs
Hypospadias, Micrognathia, Cryptorchidism, Upper limb asymmetry, Microphthalmia ORPHA:2505
Toriello-Lacassie-Droste Syndrome
Abnormal penis morphology, Anteverted nares, Hypospadias, Epispadias, Abnormality of the ureter, ... ORPHA:3339
Neurofibromatosis Type 1 Due To Nf1 Mutation Or Intragenic Deletion
Sinusitis, Ventricular septal defect, Micrognathia, Renal hypoplasia/aplasia, Abnormal tibia morp... ORPHA:363700
Craniofrontonasal Dysplasia-Poland Anomaly Syndrome
Syndactyly, Wide nose, Supernumerary nipple, Broad nasal tip, Aplasia/Hypoplasia involving bones ... ORPHA:1521
Lethal Acantholytic Erosive Disorder
Natal tooth, Cardiomegaly, 4-5 finger syndactyly, 2-3 finger syndactyly, Cardiomyopathy, Clinodac... ORPHA:158687
Loeys-Dietz Syndrome 5
Scapular winging, Ventricular septal defect, Prominent nasal bridge, Arachnodactyly, Increased ar... OMIM:615582
Chromosome 15Q25 Deletion Syndrome
Macrocytic anemia, Ventricular septal defect, Dextrocardia, Long fingers, Cryptorchidism, Coronar... OMIM:614294
Spinocerebellar Ataxia-Dysmorphism Syndrome
Cubitus valgus, Slender long bone, Short nose, Anteverted nares ORPHA:1185
Momo Syndrome
Delayed eruption of teeth, Abnormality of the thyroid gland, Bilateral microphthalmos, Dental mal... ORPHA:2563
Mowat-Wilson Syndrome Due To Monosomy 2Q22
Mandibular prognathia, Bicuspid aortic valve, Urinary incontinence, Asplenia, Calcaneovalgus defo... ORPHA:261537
Growth Delay-Intellectual Disability-Hepatopathy Syndrome
Duplicated collecting system, Diabetes mellitus, Hepatosplenomegaly, Drumstick terminal phalanges... ORPHA:541423
Curry-Jones Syndrome
Duplication of thumb phalanx, Preaxial hand polydactyly, 2-3 finger syndactyly, Preaxial foot pol... OMIM:601707
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders
Proteinuria, Heparan sulfate excretion in urine, Thrombocytopenia, Patent ductus arteriosus, Enla... ORPHA:505248
Cranioectodermal Dysplasia 2
Micrognathia, Renal cyst, Atrial septal defect, Patent foramen ovale, Syndactyly, Depressed nasal... OMIM:613610
Nevus Comedonicus Syndrome
Finger syndactyly, Toe syndactyly, Preaxial polydactyly ORPHA:64754
Severe Generalized Junctional Epidermolysis Bullosa
Urethral stricture, Duplicated collecting system, Multicystic kidney dysplasia, Recurrent urinary... ORPHA:79404
Intellectual Developmental Disorder, Autosomal Dominant 47
Cryptorchidism, Ventricular septal defect, Prominent nasal bridge, Supernumerary nipple OMIM:617635
Pontocerebellar Hypoplasia, Type 17
Secundum atrial septal defect, Microretrognathia, Patent ductus arteriosus, Ventricular septal de... OMIM:619909
Short Stature, Optic Nerve Atrophy, And Pelger-Huet Anomaly
Syndactyly, Broad hallux, Single transverse palmar crease, Micromelia, Sandal gap, Hyposegmentati... OMIM:614800
Congenital Disorder Of Glycosylation, Type Iq
Microphthalmia, Depressed nasal bridge, Microcytic anemia OMIM:612379
Gabriele-De Vries Syndrome
Hallux valgus, Sydney crease, Sandal gap, Decreased response to growth hormone stimulation test, ... ORPHA:506358
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation
Mandibular prognathia, Bicuspid aortic valve, Urinary incontinence, Asplenia, Calcaneovalgus defo... ORPHA:261552
Ulnar-Mammary Syndrome
Deformed radius, Ectopic posterior pituitary, Anterior pituitary hypoplasia, Aplasia of the 3rd m... OMIM:181450
Monosomy 9Q22.3
Delayed eruption of teeth, Ovarian fibroma, Nephroblastoma, Palmar pits, Cardiac fibroma, Polydac... ORPHA:77301
King-Denborough Syndrome
Ventricular septal defect, Broad nasal tip, Bilateral cryptorchidism, Cryptorchidism, Low hanging... OMIM:619542
Wiedemann-Steiner Syndrome
Aplasia/Hypoplasia of the ribs, Rhizomelia, Decreased response to growth hormone stimulation test... ORPHA:319182
Biliary, Renal, Neurologic, And Skeletal Syndrome
Anterior pituitary hypoplasia, Secundum atrial septal defect, Primum atrial septal defect, Inlet ... OMIM:619534
Criss-Cross Heart
Ventricular septal defect, Tricuspid stenosis, Transposition of the great arteries, Pulmonic sten... ORPHA:1461
Helsmoortel-Van Der Aa Syndrome
Decreased response to growth hormone stimulation test, Pineal cyst, Enuresis nocturna, Short 4th ... OMIM:615873
Hypoplastic Left Heart Syndrome 2
Aortic valve atresia, Hypoplastic left heart, Ventricular septal defect, Mitral atresia OMIM:614435
Bosma Arhinia Microphthalmia Syndrome
Paranasal sinus hypoplasia, Hypogonadotropic hypogonadism, Choanal atresia, Hypospadias, Cryptorc... OMIM:603457
Multiple Pterygium-Malignant Hyperthermia Syndrome
Finger syndactyly, Arachnodactyly, Prominent nasal bridge, Long palm, Tapered finger, Camptodacty... ORPHA:2215
Dysmorphism-Short Stature-Deafness-Difference Of Sex Development Syndrome
Anteverted nares, Hypospadias, Micrognathia, Cryptorchidism, Patent ductus arteriosus, Wide nasal... ORPHA:2282
Heart Defects, Congenital, And Other Congenital Anomalies
Absent gallbladder, Double outlet left ventricle, Diabetes mellitus, Ventricular septal defect, U... OMIM:600001
Loeys-Dietz Syndrome 1
Arachnodactyly, Bicuspid aortic valve, Micrognathia, Arterial tortuosity, Descending thoracic aor... OMIM:609192
Camptodactyly-Joint Contractures-Facial Skeletal Defects Syndrome
Finger syndactyly, Camptodactyly of finger, Micrognathia, Abnormal hip bone morphology, Synostosi... ORPHA:1323
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate Syndrome
Delayed eruption of teeth, Finger syndactyly, Ventricular septal defect, Abnormal dental enamel m... ORPHA:1071
Microphthalmia, Syndromic 5
Ectopic posterior pituitary, Anophthalmia, Optic nerve hypoplasia, Cryptorchidism, Microphthalmia... OMIM:610125
Osteopathia Striata With Cranial Sclerosis
Natal tooth, Multicystic kidney dysplasia, Paranasal sinus hypoplasia, Ventricular septal defect,... OMIM:300373
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14
Mandibular prognathia, Single transverse palmar crease, Micrognathia, Hypoplasia of the maxilla, ... ORPHA:96334
Hajdu-Cheney Syndrome
Micrognathia, Absent frontal sinuses, Partial absence of toe, Anteverted nares, Hypospadias, Shor... ORPHA:955
Pontocerebellar Hypoplasia, Type 10
Underdeveloped nasal alae, Tapered finger, Cryptorchidism, Bulbous nose, Wide nasal bridge, Short... OMIM:615803
Blepharocheilodontic Syndrome 1
Clinodactyly, Choanal atresia, Cutaneous syndactyly OMIM:119580
Erdheim-Chester Disease
Renal insufficiency, Hypogonadotropic hypogonadism, Abnormal pericardium morphology, Dysuria, Abn... ORPHA:35687
Osteopetrosis With Renal Tubular Acidosis
Pancytopenia, Persistence of primary teeth, Micrognathia, Thrombocytopenia, Distal renal tubular ... ORPHA:2785
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome
Ventricular septal defect, Anteverted nares, Decreased response to growth hormone stimulation tes... ORPHA:444077
Ayme-Gripp Syndrome
Mandibular prognathia, Pericarditis, Depressed nasal bridge, Tapered finger, Wide nasal bridge, R... OMIM:601088
Peters-Plus Syndrome
Ureteral duplication, Single transverse palmar crease, Limited elbow movement, Proximal placement... OMIM:261540
Distal Deletion 9P
Short nose, Hypospadias, Wide nasal bridge, Brachydactyly ORPHA:1642
Limb Body Wall Complex
Duplication of hand bones, Depressed nasal bridge, Choanal atresia, Ventricular septal defect, Br... ORPHA:2369
Waardenburg Syndrome Type 1
Mandibular prognathia, Short nose, Wide nasal bridge, Underdeveloped nasal alae ORPHA:894
Mowat-Wilson Syndrome
Mandibular prognathia, Bicuspid aortic valve, Urinary incontinence, Asplenia, Calcaneovalgus defo... ORPHA:2152
Saethre-Chotzen Syndrome
Hallux valgus, Finger syndactyly, Proximal radio-ulnar synostosis, Brachydactyly, Depressed nasal... ORPHA:794
Short Rib-Polydactyly Syndrome, Verma-Naumoff Type
Wide nose, Hypoplasia of penis, Depressed nasal bridge, Micromelia, Micrognathia, Urethrovaginal ... ORPHA:93271
Trichothiodystrophy 3, Photosensitive
Natal tooth, Carious teeth, Bilateral cryptorchidism, Neutropenia, Microphthalmia, Lymphopenia OMIM:616395
Blepharo-Cheilo-Odontic Syndrome
Carious teeth, Finger syndactyly ORPHA:1997
Cerebrooculonasal Syndrome
Anophthalmia, Anteverted nares, Prominent nasal bridge, Proboscis, Optic nerve hypoplasia, Postax... OMIM:605627
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency
Adrenal cortical sclerosis, Diffuse mesangial sclerosis, Autoimmune hemolytic anemia, Severe B ly... OMIM:102700
Plaa-Associated Neurodevelopmental Disorder
Hyperextensibility of the finger joints, Single transverse palmar crease, Rocker bottom foot, Mic... ORPHA:521426
Apert Syndrome
Mandibular prognathia, Aplasia/Hypoplasia of the thumb, Finger syndactyly, Toe syndactyly, Depres... ORPHA:87
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly
Ventricular septal defect, Pancreatic fibrosis, Preaxial hand polydactyly, Postaxial hand polydac... OMIM:263520
Osteogenesis Imperfecta, Type Vii
Crumpled long bones, Rhizomelia, Protrusio acetabuli, Femoral retroversion, Micromelia, Bowing of... OMIM:610682
15Q14 Microdeletion Syndrome
Atrial septal defect, Convex nasal ridge, Ventricular septal defect, Prominent nasal bridge ORPHA:261190
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 11
Microphthalmia, Optic nerve hypoplasia OMIM:615181
Gapo Syndrome
Prominent scalp veins, Depressed nasal bridge, Anteverted nares, Micrognathia, Retinal arteriolar... OMIM:230740
Williams-Beuren Syndrome
Bicuspid aortic valve, Nephrocalcinosis, Early onset of sexual maturation, Clinodactyly of the 5t... OMIM:194050
Costello Syndrome
Ventricular septal defect, Depressed nasal bridge, Abnormal dental enamel morphology, Cryptorchid... ORPHA:3071
Myopathy, Epilepsy, And Progressive Cerebral Atrophy
Thymus hyperplasia, Arachnodactyly, Talipes equinovarus, Micrognathia OMIM:619036
Cardiospondylocarpofacial Syndrome
Carpal synostosis, Anteverted nares, Ventricular septal defect, Tarsal synostosis, Bulbous nose, ... OMIM:157800
Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Anomalies
Rocker bottom foot, Single transverse palmar crease, Postaxial polydactyly, Micrognathia, Long fi... OMIM:617527
Early-Onset Epileptic Encephalopathy And Intellectual Disability Due To Grin2A Mutation
Short nose ORPHA:289266
Rodrigues Blindness
Narrow nasal bridge, Microphthalmia OMIM:268320
Cardiofaciocutaneous Syndrome 3
Atrial septal defect, Hypertrophic cardiomyopathy, Ventricular septal defect, Pulmonic stenosis OMIM:615279
Distal 22Q11.2 Microduplication Syndrome
Mandibular prognathia, Wide nose, Toe syndactyly, Ventricular septal defect, Camptodactyly of fin... ORPHA:261337
Bardet-Biedl Syndrome 1
Decreased testicular size, Syndactyly, Diabetes mellitus, Abnormality of the kidney, Postaxial po... OMIM:209900
Ehlers-Danlos Syndrome, Musculocontractural Type, 1
Microretrognathia, Arachnodactyly, Cryptorchidism, Mitral valve prolapse, Nephrotic syndrome, Sho... OMIM:601776
Short Stature, Brachydactyly, Impaired Intellectual Development, And Seizures
Short metacarpal, Brachydactyly, Depressed nasal bridge, Anteverted nares, Recurrent urinary trac... OMIM:617157
Craniotubular Dysplasia, Ikegawa Type
Metaphyseal dysplasia, Ventricular septal defect, Anteverted nares, Phthisis bulbi, Broad ischia,... OMIM:619727
Ctcf-Related Neurodevelopmental Disorder
Prominent fingertip pads, Broad hallux phalanx, Anteverted nares, Single transverse palmar crease... ORPHA:363611
Prader-Willi Syndrome
Decreased response to growth hormone stimulation test, Short palm, Micropenis, Syndactyly, Hypogo... OMIM:176270
Pyruvate Dehydrogenase E1-Alpha Deficiency
Limb undergrowth, Abnormal medullary pyramid morphology, Ventricular septal defect, Single transv... ORPHA:79243
Pontocerebellar Hypoplasia, Type 2E
Wide nose, Short nose, Micrognathia OMIM:615851
Fontaine Progeroid Syndrome
Mandibular prognathia, Bicuspid aortic valve, Micrognathia, Atrial septal defect, Micropenis, Syn... OMIM:612289
Corpus Callosum, Agenesis Of, With Impaired Intellectual Development, Ocular Coloboma, And Micrognathia
Ventricular septal defect, Prominent nasal bridge, Choanal atresia, Bilateral cryptorchidism, Pat... OMIM:300472
Cutis Laxa, Autosomal Recessive, Type Iia
Congenital hip dislocation, Anteverted nares, Carious teeth, Malar flattening, Short nose OMIM:219200
Carpenter Syndrome 2
Single transverse palmar crease, Bilateral cryptorchidism, Preaxial polydactyly, Coxa vara, Cutan... OMIM:614976
Methylcobalamin Deficiency Type Cble
Syndactyly, Macrocytic anemia, Pancytopenia, Glomerulopathy, Hemolytic-uremic syndrome, Increased... ORPHA:2169
Spondyloepiphyseal Dysplasia With Congenital Joint Dislocations
Tibial bowing, Shoulder dislocation, Short phalanx of finger, Bilateral single transverse palmar ... OMIM:143095
Severe Microbrachycephaly-Intellectual Disability-Athetoid Cerebral Palsy Syndrome
Mandibular prognathia, Camptodactyly of finger, Supernumerary nipple, Tapered finger, Microphthal... ORPHA:1236
Hallermann-Streiff Syndrome
Natal tooth, Prominent nasal bridge, Abnormality of the hand, Underdeveloped nasal alae, Microgna... OMIM:234100
Kbg Syndrome
Syndactyly, Anteverted nares, Single transverse palmar crease, Prominent nasal bridge, Underdevel... OMIM:148050
Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency
Microretrognathia, 2-5 finger syndactyly, Hypospadias, Optic nerve hypoplasia, Prominent nasal br... ORPHA:468631
Primary Aldosteronism, Seizures, And Neurologic Abnormalities
Ventricular septal defect, Nephrolithiasis, Biventricular hypertrophy, Primary hyperaldosteronism... OMIM:615474
Wiedemann-Rautenstrauch Syndrome
Optic disc hypoplasia, Decreased response to growth hormone stimulation test, Congenital malforma... ORPHA:3455
Joubert Syndrome 2
Renal insufficiency, Depressed nasal bridge, Postaxial hand polydactyly, Renal cyst, Postaxial fo... OMIM:608091
Goldberg-Shprintzen Megacolon Syndrome
Finger syndactyly, Hypospadias, Wide nasal bridge ORPHA:66629
Congenital Disorder Of Glycosylation, Type Iia
Mandibular prognathia, Ventricular septal defect, Prominent nasal bridge, Proximal placement of t... OMIM:212066
Dend Syndrome
Clinodactyly of the 4th finger, Short nose, Anteverted nares, Elevated hemoglobin A1c ORPHA:79134
Congenital Myopathy 22B, Severe Fetal
Hip contracture, Scapular winging, Tapered toe, Shoulder flexion contracture, Micrognathia, Elbow... OMIM:620369
Double Outlet Left Ventricle
Double outlet left ventricle, Ventricular septal defect, Abnormal coronary artery course, Cardiom... ORPHA:3427
Elsahy-Waters Syndrome
Mandibular prognathia, Bilateral cryptorchidism, Hypoplasia of the maxilla, Cutaneous finger synd... OMIM:211380
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies
Mandibular prognathia, Hyperextensibility of the finger joints, Internally rotated shoulders, Sin... OMIM:619503
Congenital Muscular Dystrophy With Intellectual Disability And Severe Epilepsy
Short nose, Dental malocclusion, Micrognathia ORPHA:329178
Oeis Complex
11 pairs of ribs, Absence of the sacrum, Duplicated collecting system, Congenital hip dislocation... OMIM:258040
Fbln1-Related Developmental Delay-Central Nervous System Anomaly-Syndactyly Syndrome
Cryptorchidism, Syndactyly, Congenital bilateral hip dislocation ORPHA:404451
C Syndrome
Multicystic kidney dysplasia, Toe syndactyly, Depressed nasal bridge, Anteverted nares, Micromeli... ORPHA:1308
Autosomal Recessive Cutis Laxa Type 2, Classic Type
Congenital hip dislocation, Anteverted nares, Broad nasal tip, Carious teeth, Prominent veins on ... ORPHA:357074
Laubry-Pezzi Syndrome
Aortic valve prolapse, Bicuspid aortic valve, Ventricular septal defect, Abnormal aortic valve cu... ORPHA:99094
Cerebrocostomandibular Syndrome
11 pairs of ribs, Short humerus, 10 pairs of ribs, Congenital hip dislocation, Calcaneal epiphyse... OMIM:117650
Linear Skin Defects With Multiple Congenital Anomalies 3
Thyroid C cell hyperplasia, Delayed eruption of primary teeth, Dilated cardiomyopathy, Histiocyto... OMIM:300952
Microphthalmia, Syndromic 6
Abnormality of the hypothalamus-pituitary axis, Finger syndactyly, Thumb contracture, Anophthalmi... OMIM:607932
Lateral Meningocele Syndrome
Neurogenic bladder, Ventricular septal defect, Bicuspid aortic valve, Micrognathia, Cryptorchidis... OMIM:130720
Orofaciodigital Syndrome V
Ventricular septal defect, Sandal gap, Postaxial polydactyly, Unilateral cryptorchidism, Postaxia... OMIM:174300
Oculotrichoanal Syndrome
Bifid nasal tip, Microphthalmia, Anophthalmia ORPHA:2717
Pancreatic Hypoplasia-Diabetes-Congenital Heart Disease Syndrome
Ureteral duplication, Double outlet left ventricle, Ventricular septal defect, Neonatal insulin-d... ORPHA:2255
Cockayne Syndrome B
Mandibular prognathia, Slender nose, Renal insufficiency, Proteinuria, Prominent nasal bridge, De... OMIM:133540
Netherton Syndrome
Aminoaciduria, Hydronephrosis, Ectopic kidney ORPHA:634
Frontofacionasal Dysplasia
Underdeveloped nasal alae, Bifid nose, Midline defect of the nose, Microphthalmia, Short nose, Ma... OMIM:229400
Contractures, Pterygia, And Spondylocarpotarsal Fusion Syndrome 1A
Hip contracture, Ventricular septal defect, Tarsal synostosis, Elbow flexion contracture, Cutaneo... OMIM:178110
Manitoba Oculotrichoanal Syndrome
Bifid nasal tip, Microphthalmia, Anophthalmia, Broad nasal tip OMIM:248450
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome
Bicuspid aortic valve, Ventricular septal defect, Abnormality of the endocrine system, Precocious... ORPHA:438213
Pontocerebellar Hypoplasia, Type 8
Patent foramen ovale, Ventricular septal defect, Anteverted nares, Talipes equinovarus OMIM:614961
Aymé-Gripp Syndrome
Pericarditis, Depressed nasal bridge, Rocker bottom foot, Proteinuria, Tapered finger, Pericardia... ORPHA:1272
Granulomatosis With Polyangiitis
Glomerulopathy, Pericarditis, Sinusitis, Ureteral stenosis, Epistaxis, Renal insufficiency, Abnor... ORPHA:900
Anterior Segment Dysgenesis 5
Hypoplasia of the fovea, Hypoplasia of the iris, Rieger anomaly, Microphthalmia OMIM:604229
Distal Deletion 19P
Long toe, Arachnodactyly, Ventricular septal defect, Hypoplasia of the maxilla, Tricuspid valve p... ORPHA:96129
Holoprosencephaly 13, X-Linked
Septo-optic dysplasia, Ventricular septal defect, Optic nerve hypoplasia, Micrognathia, Patent du... OMIM:301043
Neu-Laxova Syndrome 2
Finger syndactyly, Toe syndactyly, Rocker bottom foot, Micrognathia, Depressed nasal ridge OMIM:616038
Holoprosencephaly 7
Hypoplasia of the premaxilla, Flat nasal alae, Bilateral microphthalmos, Absent nasal septal cart... OMIM:610828
Anemia, Congenital Dyserythropoietic, Type Ia
Syndactyly, Hemolytic anemia, Reticulocytosis, Anisocytosis, Anemia of inadequate production, Spl... OMIM:224120
Proteus Syndrome
Neoplasm of the thymus, Abnormal finger morphology, Renal cyst, Clinodactyly of the 5th finger, A... ORPHA:744
Intellectual Developmental Disorder, X-Linked, Syndromic, Turner Type
Depressed nasal bridge, Overlapping toe, Hypospadias, Broad nasal tip, Tapered finger, Micrognath... OMIM:309590
Peho Syndrome
Malar flattening, Short nose, Anteverted nares, Tapered finger ORPHA:2836
Isolated Anencephaly
Thymus hyperplasia, Adrenal hypoplasia, Maternal diabetes ORPHA:563609
Congenital Heart Defects, Dysmorphic Facial Features, And Intellectual Developmental Disorder
Ventricular septal defect, Prominent nasal bridge, Bulbous nose, Wide nasal bridge, Camptodactyly... OMIM:617360
Monosomy 22Q13.3
Renal dysplasia, Bulbous nose, Dental malocclusion, Wide nasal bridge, Vesicoureteral reflux, Lar... ORPHA:48652
Neurodevelopmental Disorder With Brain Anomalies, Seizures, And Scoliosis
Depressed nasal bridge, Long nose, Slender long bone, Malar flattening, Short nose OMIM:618590
Neurodevelopmental Disorder With Hypotonia, Language Delay, And Skeletal Defects With Or Without Seizures
Depressed nasal bridge, Optic nerve hypoplasia, Micrognathia, 2-3 toe cutaneous syndactyly, 3-4 f... OMIM:620029
Neurodevelopmental Disorder With Language Delay And Seizures
Cryptorchidism, Ventricular septal defect, Hypothyroidism OMIM:619908
Tukel Syndrome
Carpal synostosis, Syndactyly, Carpal bone aplasia, Postaxial oligodactyly OMIM:609428
Microphthalmia With Linear Skin Defects Syndrome
Abnormal penis morphology, Wide nose, Anophthalmia, Hypospadias, Abnormal dental enamel morpholog... ORPHA:2556
Fraser Syndrome
Finger syndactyly, Hypoplasia of penis, Cleft ala nasi, Depressed nasal bridge, Anophthalmia, Toe... ORPHA:2052
Vitreoretinochoroidopathy
Microphthalmia, Retinal arteriolar constriction, Retinal arteriolar occlusion OMIM:193220
Oculocerebrorenal Syndrome Of Lowe
Mandibular prognathia, Hyperparathyroidism, Micrognathia, Oligosacchariduria, Nephrocalcinosis, A... ORPHA:534
Adult Syndrome
Finger syndactyly, Toe syndactyly, Absent nipple, Prominent nasal bridge, Wide nasal bridge, Spli... ORPHA:978
Liver Disease, Severe Congenital
Cardiomegaly, Micrognathia, Biliary hyperplasia, Leukopenia, Aminoaciduria, Lymphocytosis, Atrial... OMIM:619991
Myopathy With Extrapyramidal Signs
Leukocytosis, Splenomegaly, Ventricular septal defect, Anteverted nares OMIM:615673
Opitz Gbbb Syndrome
Abnormal nasopharynx morphology, Ventricular septal defect, Anteverted nares, Hypospadias, Rectou... OMIM:300000
Zttk Syndrome
Absent gallbladder, Ventricular septal defect, Depressed nasal bridge, Unilateral renal agenesis,... OMIM:617140
Congenital Muscular Dystrophy With Cerebellar Involvement
Microphthalmia, Optic nerve hypoplasia, Cardiomyopathy ORPHA:370959
Lenz-Majewski Hyperostotic Dwarfism
Mandibular prognathia, Finger syndactyly, Abnormal penis morphology, Hypospadias, Choanal atresia... ORPHA:2658
Epidermolysis Bullosa Simplex With Pyloric Atresia
Renal dysplasia, Abnormality of the urethra, Abnormality of the urinary system, Aplasia of the bl... ORPHA:158684
Intellectual Disability-Seizures-Abnormal Gait-Facial Dysmorphism Syndrome
Depressed nasal bridge, Anteverted nares, Ventricular septal defect, Micrognathia, Metatarsus add... ORPHA:513456
Facial Dysmorphism-Anorexia-Cachexia-Eye And Skin Anomalies Syndrome
Finger syndactyly, Anteverted nares, Abnormality of the thyroid gland, Midline defect of the nose... ORPHA:1969
Phosphoribosylpyrophosphate Synthetase Superactivity
Renal insufficiency, Depressed nasal bridge, Hypospadias, Cryptorchidism, Urolithiasis, Hyperuric... OMIM:300661
Trichorhinophalangeal Syndrome, Type Ii
Mandibular prognathia, Bicuspid aortic valve, Single transverse palmar crease, Cerebral arteriove... OMIM:150230
46,Xx Sex Reversal With Dysgenesis Of Kidneys, Adrenals, And Lungs
Hypoplasia of the bladder, Renal agenesis, Ventricular septal defect, Hypospadias, Pulmonary arte... OMIM:611812
Coffin-Lowry Syndrome
Mandibular prognathia, Hyperextensibility of the finger joints, Wide nose, Short metacarpal, Ante... OMIM:303600
Scalp-Ear-Nipple Syndrome
Mandibular prognathia, Finger syndactyly, Renal insufficiency, Depressed nasal bridge, Anteverted... OMIM:181270
Congenitally Corrected Transposition Of The Great Arteries
Atrial situs ambiguous, Abnormal left ventricular outflow tract morphology, Abnormal tricuspid va... ORPHA:216694
Microphthalmia-Brain Atrophy Syndrome
Bilateral microphthalmos ORPHA:77299
Multiple Pterygium Syndrome, Escobar Variant
Syndactyly, Arachnodactyly, Rocker bottom foot, Down-sloping shoulders, Micrognathia, Hypospadias... OMIM:265000
Jaberi-Elahi Syndrome
Hand clenching, Short nose, Depressed nasal bridge, Talipes equinovarus OMIM:617988
Noonan Syndrome 10
Mitral stenosis, Ventricular septal defect, Cryptorchidism, Patent ductus arteriosus, Mitral valv... OMIM:616564
Microphthalmia, Isolated, With Corectopia
Microphthalmia OMIM:156900
Trichothiodystrophy 1, Photosensitive
Microphthalmia, Short nose, Retrognathia, Hypogonadism OMIM:601675
X-Linked Intellectual Disability-Cerebellar Hypoplasia-Spondylo-Epiphyseal Dysplasia Syndrome
Mandibular prognathia, Microretrognathia, Toe syndactyly, Ventricular septal defect, Single trans... ORPHA:459070
Menke-Hennekam Syndrome 1
Narrow nasal bridge, Anteverted nares, Depressed nasal bridge, Broad hallux, Underdeveloped nasal... OMIM:618332
Tyshchenko Syndrome
Ventricular septal defect, Supernumerary nipple, Cryptorchidism, Pulmonic stenosis, Atrial septal... OMIM:615102
Thauvin-Robinet-Faivre Syndrome
Renal dysplasia, Renal malrotation, Transient neutropenia, Ventricular septal defect, Bowing of t... OMIM:617107
Den Hoed-De Boer-Voisin Syndrome
Delayed eruption of teeth, Recurrent urinary tract infections, Sandal gap, Ventricular septal def... OMIM:619229
Craniofacial Microsomia 1
Multicystic kidney dysplasia, Anophthalmia, Ventricular septal defect, Renal agenesis, Micrognath... OMIM:164210
Molybdenum Cofactor Deficiency, Complementation Group A
Xanthine nephrolithiasis, Increased urinary sulfite level, Absent urinary urothione, Elevated uri... OMIM:252150
Neurodevelopmental Disorder With Dysmorphic Facies And Cerebellar Hypoplasia
Accessory spleen, Ventricular septal defect, Optic disc hypoplasia, Wide nasal bridge, Depressed ... OMIM:619306
Congenital Gerbode Defect
Ventricular septal defect, Right atrial enlargement, Perimembranous ventricular septal defect, Pu... ORPHA:99095
Knobloch Syndrome 1
Duplicated collecting system, Depressed nasal bridge, Patent ductus arteriosus, Bulbous nose, Pht... OMIM:267750
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4
Dilated cardiomyopathy, Myocardial fibrosis, Transposition of the great arteries, Pulmonic stenos... OMIM:253800
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 3
Fetal megacystis, Hydroureter, Megacystis, Hydronephrosis OMIM:619362
Peroxisome Biogenesis Disorder 5A (Zellweger)
Ventricular septal defect, Single transverse palmar crease, Hypospadias, Micrognathia, Metatarsus... OMIM:614866
De Barsy Syndrome
Delayed eruption of teeth, Congenital hip dislocation, Ventricular septal defect, Cryptorchidism,... ORPHA:2962
Blepharophimosis, Ptosis, And Epicanthus Inversus
Microphthalmia, Increased circulating gonadotropin level, Depressed nasal bridge, Wide nasal bridge OMIM:110100
T-Cell Immunodeficiency With Thymic Aplasia
Aplasia of the thymus, Hepatosplenomegaly, T lymphocytopenia, Abnormally low T cell receptor exci... OMIM:242700
Klippel-Feil Syndrome 2, Autosomal Recessive
Ventricular septal defect OMIM:214300
Walker-Warburg Syndrome
Hypoplasia of penis, Anophthalmia, Cryptorchidism, Metatarsus valgus, Microphthalmia ORPHA:899
Microcephaly, Short Stature, And Polymicrogyria With Or Without Seizures
Microphthalmia, Optic nerve hypoplasia OMIM:614833
Intellectual Developmental Disorder, X-Linked, Syndromic 34
Narrow nasal bridge, Hallux valgus, Ventricular septal defect, Left ventricular noncompaction car... OMIM:300967
Oculocerebrocutaneous Syndrome
Finger syndactyly, Congenital hip dislocation, Aplasia/Hypoplasia of the distal phalanges of the ... ORPHA:1647
Autosomal Dominant Keratitis
Hypoplasia of the fovea, Bilateral microphthalmos, Hypoplastic iris stroma, Macular hypoplasia, A... ORPHA:2334
Alzahrani-Kuwahara Syndrome
Ventricular septal defect, Pulmonary artery sling, Coronary sinus enlargement, Prominent nose, Mi... OMIM:619268
Global Developmental Delay-Neuro-Ophthalmological Abnormalities-Seizures-Intellectual Disability Syndrome
Hydronephrosis ORPHA:488613
Autosomal Dominant Kenny-Caffey Syndrome
Decreased testicular size, Stenosis of the medullary cavity of the long bones, Persistence of pri... ORPHA:93325
Holoprosencephaly 1
Adrenal hypoplasia, Proboscis, Aplasia of the nose, Microphthalmia, Micropenis, Diabetes insipidu... OMIM:236100
Stickler Syndrome
Anteverted nares, Depressed nasal bridge, Arachnodactyly, Protrusio acetabuli, Micrognathia, Hypo... ORPHA:828
Bloom Syndrome
Syndactyly, Elevated hemoglobin A1c, Prominent nose, Cryptorchidism, Recurrent upper respiratory ... OMIM:210900
Deeah Syndrome
Decreased hemoglobin concentration, Overlapping fingers, Decreased response to growth hormone sti... OMIM:619004
Ileal Neuroendocrine Tumor
Tricuspid stenosis, Lymphadenopathy, Iron deficiency anemia, Small intestine carcinoid, Increased... ORPHA:100078
Orofaciodigital Syndrome Type 14
Microretrognathia, Broad hallux, Ventricular septal defect, Deviation of the hallux, Bilateral cr... ORPHA:434179
Trichohepatoenteric Syndrome 1
Wide nose, Anteverted nares, Ventricular septal defect, Increased mean platelet volume, Hypospadi... OMIM:222470
Mitochondrial Complex Iii Deficiency, Nuclear Type 10
Ventricular septal defect, Pericardial effusion, Normochromic anemia, Cholelithiasis, Hypertrophi... OMIM:618775
Paternal Uniparental Disomy Of Chromosome 6
Ventricular septal defect, Neonatal insulin-dependent diabetes mellitus, Micrognathia, Cardiomega... ORPHA:96191
T-Cell Immunodeficiency With Thymic Aplasia
Recurrent urinary tract infections, Sinusitis, Decreased proportion of naive T cells, Aplasia of ... ORPHA:83471
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 5
Hydroureter, Megacystis, Hydronephrosis OMIM:619431
Incontinentia Pigmenti
Delayed eruption of teeth, Finger syndactyly, Camptodactyly of finger, Abnormal dental enamel mor... ORPHA:464
Sotos Syndrome
Ureteral duplication, No permanent dentition, Vesicoureteral reflux, Atrial septal defect, Hypoth... ORPHA:821
Yunis-Varon Syndrome
Congenital hip dislocation, Single transverse palmar crease, Micrognathia, Short metatarsal, Palm... OMIM:216340
Infantile Hypotonia-Oculomotor Anomalies-Hyperkinetic Movements-Developmental Delay Syndrome
Equinus calcaneus, 2-3 toe syndactyly, Bilateral talipes equinovarus, Atrial septal defect, Promi... ORPHA:522077
Blepharocheilodontic Syndrome 2
Cutaneous syndactyly OMIM:617681
Cockayne Syndrome
Urinary incontinence, Retinal arteriolar constriction, Cryptorchidism, Renal hypoplasia, Nephroti... ORPHA:191
Autosomal Recessive Multiple Pterygium Syndrome
Finger syndactyly, Hypoplasia of penis, Camptodactyly of finger, Micrognathia, Cryptorchidism, Sy... ORPHA:2990
Aortic Arch Interruption
Bicuspid aortic valve, Ventricular septal defect, Patent ductus arteriosus, Aortic valve atresia,... ORPHA:2299
Trichohepatoneurodevelopmental Syndrome
Ventricular septal defect, Overlapping toe, Splenomegaly, Bulbous nose, Patent ductus arteriosus,... OMIM:618268
Mgat2-Cdg
Impaired lymphocyte transformation with phytohemagglutinin, Brachydactyly, Ventricular septal def... ORPHA:79329
Brain-Lung-Thyroid Syndrome
Thyroid dysgenesis, Hypoparathyroidism, Thyroid hemiagenesis, Ventricular septal defect, Hypospad... ORPHA:209905
Orofaciodigital Syndrome Xiv
Microretrognathia, Natal tooth, Broad hallux, Ventricular septal defect, Micrognathia, Cryptorchi... OMIM:615948
Idiopathic Uveal Effusion Syndrome
Microphthalmia ORPHA:209956
Intellectual Developmental Disorder, Autosomal Dominant 42
Neurogenic bladder, Tapered finger, Narrow palm, Congenital hypothyroidism, Hand clenching, Urete... OMIM:616973
Coffin-Siris Syndrome 12
Depressed nasal bridge, Anteverted nares, Prominent nasal bridge, Underdeveloped nasal alae, Hip ... OMIM:619325
Genitourinary And/Or Brain Malformation Syndrome
Syndactyly, Aplasia of the nasal bone, Streak ovary, Hypospadias, Micrognathia, Cryptorchidism, M... OMIM:618820
Mowat-Wilson Syndrome
Prominent nasal tip, Delayed eruption of teeth, Ventricular septal defect, Pulmonary artery sling... OMIM:235730
Ciliary Dyskinesia, Primary, 20
Atrial situs inversus, Ventricular septal defect, Dextrocardia, Situs inversus totalis, Pulmonary... OMIM:615067
Noonan Syndrome-Like Disorder With Loose Anagen Hair 2
Wide nose, Ventricular septal defect, Optic nerve hypoplasia, Underdeveloped nasal alae, Cryptorc... OMIM:617506
Hypertelorism-Hypospadias-Polysyndactyly Syndrome
Abnormal penis morphology, Finger syndactyly, Broad hallux phalanx, Hypospadias, Preaxial hand po... ORPHA:2211
Wolf-Hirschhorn Syndrome
Single transverse palmar crease, Micrognathia, Atrial septal defect, Accessory spleen, Pseudoepip... OMIM:194190
Branchiooculofacial Syndrome
Anophthalmia, Depressed nasal bridge, Single transverse palmar crease, Proximal placement of thum... OMIM:113620
Coloboma, Ocular, Autosomal Dominant
Microphthalmia, Optic nerve aplasia, Vesicoureteral reflux OMIM:120200
Lissencephaly 9 With Complex Brainstem Malformation
Ventricular septal defect, Depressed nasal bridge OMIM:618325
Anterior Segment Dysgenesis 2
Aniridia, Microphthalmia, Congenital aphakia, Anterior segment of eye aplasia OMIM:610256
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 12
Microphthalmia, Abnormally large globe OMIM:615249
Peroxisome Biogenesis Disorder 4B
Short nose, Adrenal insufficiency, Single transverse palmar crease, Ureterocele OMIM:614863
Lowe Oculocerebrorenal Syndrome
Renal insufficiency, Hyperphosphaturia, Camptodactyly of finger, Wrist swelling, Cryptorchidism, ... OMIM:309000
Congenital Disorder Of Glycosylation, Type Iiw
Wide nose, Membranoproliferative glomerulonephritis, Ventricular septal defect, Microscopic hemat... OMIM:619525
Choroidal Atrophy-Alopecia Syndrome
Finger syndactyly, Supernumerary nipple ORPHA:1433
Johanson-Blizzard Syndrome
Diabetes mellitus, Ventricular septal defect, Single transverse palmar crease, Hypospadias, Under... OMIM:243800
Ectodermal Dysplasia-Blindness Syndrome
Narrow nasal bridge, Microphthalmia ORPHA:1806
Constricting Bands, Congenital
Syndactyly, Hand polydactyly, Talipes equinovarus, Ectopia cordis, Bladder exstrophy OMIM:217100
Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies
Decreased testicular size, Optic nerve hypoplasia, Leukocytosis, Renal hypoplasia, Genu valgum, M... OMIM:619321
Noonan Syndrome 1
Amegakaryocytic thrombocytopenia, Juvenile myelomonocytic leukemia, Ventricular septal defect, Hy... OMIM:163950
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2
Microretrognathia, Accessory spleen, Ventricular septal defect, Depressed nasal bridge, Splenomeg... OMIM:619418
Hartsfield Syndrome
Syndactyly, Wide nose, Hypospadias, Cryptorchidism, Gonadotropin deficiency, Ectrodactyly, Microp... OMIM:615465
Macrocephaly-Intellectual Disability-Left Ventricular Non Compaction Syndrome
Narrow nasal bridge, Hallux valgus, Ventricular septal defect, Prominent nasal bridge, Anterior p... ORPHA:466791
Adenylosuccinase Deficiency
Short nose, Anteverted nares OMIM:103050
Histiocytoid Cardiomyopathy
Ventricular septal defect, Cardiomegaly, Renal cyst, Stroke-like episode, Polycystic ovaries, Mic... ORPHA:137675
Trichothiodystrophy
Ventricular septal defect, Hypoplasia of mandible relative to maxilla, Carious teeth, Cryptorchid... ORPHA:33364
Early Infantile Epileptic Encephalopathy
Ventricular septal defect, Depressed nasal bridge, Anteverted nares, Precocious puberty, Broad fi... ORPHA:1934
Cornea Plana 2, Autosomal Recessive
Microphthalmia OMIM:217300
Molybdenum Cofactor Deficiency, Complementation Group B
Xanthine nephrolithiasis, Increased urinary sulfite level, Xanthinuria, Increased urinary taurine... OMIM:252160
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7
Microphthalmia, Retrognathia, Optic nerve hypoplasia, Adducted thumb OMIM:614643
Anterior Segment Dysgenesis 7
Buphthalmos, Microphthalmia OMIM:269400
Congenital Tracheomalacia
Ventricular septal defect, Cardiomegaly, Patent ductus arteriosus, Partial anomalous pulmonary ve... ORPHA:95430
Treacher Collins Syndrome 1
Choanal atresia, Micrognathia, Cryptorchidism, Bilateral microphthalmos, Abnormal heart morpholog... OMIM:154500
Optic Disc Anomalies With Retinal And/Or Macular Dystrophy
Buphthalmos, Microphthalmia OMIM:212550
Short Stature And Facioauriculothoracic Malformations
Ventricular septal defect OMIM:609654
Choreoathetosis And Congenital Hypothyroidism With Or Without Pulmonary Dysfunction
Ventricular septal defect, Decreased response to growth hormone stimulation test, Elevated circul... OMIM:610978
Cryptophthalmos, Unilateral Or Bilateral, Isolated
Microphthalmia OMIM:123570
Beck-Fahrner Syndrome
Hip dysplasia, Ventricular septal defect, Cardiomegaly OMIM:618798
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome
Absent gallbladder, Depressed nasal bridge, Optic nerve hypoplasia, Arachnodactyly, Absent thumb,... ORPHA:500150
Lateral Meningocele Syndrome
Craniofacial hyperostosis, Ventricular septal defect, Micrognathia, Cryptorchidism, Malar flattening ORPHA:2789
Diets-Jongmans Syndrome
Ventricular septal defect, Hypospadias, Broad nasal tip, Cryptorchidism, Interrupted inferior ven... OMIM:618846
Chromosome 1P36 Deletion Syndrome, Distal
Bicuspid aortic valve, Ectopic kidney, Depressed nasal ridge, Clinodactyly of the 5th finger, Atr... OMIM:607872
Cerebrocostomandibular Syndrome
Clinodactyly of the 5th finger, Multicystic kidney dysplasia, Ventricular septal defect, Microgna... ORPHA:1393
Pierson Syndrome
Diffuse mesangial sclerosis, Rieger anomaly, Hypoplasia of the ciliary body, Proteinuria, Stage 5... OMIM:609049
Growth Retardation, Impaired Intellectual Development, Hypotonia, And Hepatopathy
Duplicated collecting system, Hydronephrosis OMIM:617093
Holoprosencephaly 2
Aplasia of the nasal bone, Aplasia of the premaxilla, Diabetes insipidus, Proboscis, Adrenal hypo... OMIM:157170
Ectodermal Dysplasia 1, Hypohidrotic, X-Linked
Absent nipple, Depressed nasal bridge, Underdeveloped nasal alae, Hypoplasia of the maxilla, Apla... OMIM:305100
Spondylocostal Dysostosis With Anal Atresia And Urogenital Anomalies
Hydronephrosis, Urethral atresia, Short ribs, Missing ribs OMIM:271520
Lacrimoauriculodentodigital Syndrome 1
Absence of Stensen duct, Preaxial polydactyly, Radial deviation of the 3rd finger, Conical inciso... OMIM:149730
Microcornea-Posterior Megalolenticonus-Persistent Fetal Vasculature-Coloboma Syndrome
Microphthalmia ORPHA:231736
Limb-Mammary Syndrome
Syndactyly, Toe syndactyly, Absent nipple, 3-4 finger cutaneous syndactyly, Bilateral breast hypo... ORPHA:69085
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1
Optic nerve hypoplasia, Micrognathia, Cryptorchidism, Buphthalmos, Microphthalmia, Renal dysplasia OMIM:236670
1P21.3 Microdeletion Syndrome
Short nose, Micrognathia, Broad nasal tip ORPHA:293948
Long Qt Syndrome 8
Syndactyly OMIM:618447
Ichthyosis Follicularis-Alopecia-Photophobia Syndrome
Abnormal pelvis bone morphology, Hydroureter, Camptodactyly of finger, Abnormality of the hand, C... ORPHA:2273
Kenny-Caffey Syndrome, Type 2
Hypoparathyroidism, Microphthalmia, Thickened cortex of long bones, Anemia, Abnormality of the me... OMIM:127000
Developmental Delay, Impaired Speech, And Behavioral Abnormalities
Anteverted nares, Bicuspid aortic valve, Ventricular septal defect, Single transverse palmar crea... OMIM:619475
Exudative Vitreoretinopathy 2, X-Linked
Microphthalmia OMIM:305390
Neurodevelopmental Disorder With Seizures, Microcephaly, And Brain Abnormalities
Ventricular septal defect, Unilateral renal agenesis, Cryptorchidism, Patent ductus arteriosus, C... OMIM:620024
Seizures, Scoliosis, And Macrocephaly/Microcephaly Syndrome
Overlapping toe, Ventricular septal defect, Cerebral hemorrhage, Proteinuria, Precocious puberty,... OMIM:616682
Pallister-Killian Syndrome
Congenital hip dislocation, Single transverse palmar crease, Micrognathia, Renal cyst, Camptodact... OMIM:601803
Microcephaly-Lymphedema-Chorioretinopathy Syndrome
Wide nose, Anophthalmia, Anteverted nares, Wide nasal bridge, Atrial septal defect, Microphthalmi... ORPHA:2526
Pili Torti-Onychodysplasia Syndrome
Palmoplantar keratoderma, Cutaneous syndactyly ORPHA:2890
Microphthalmia, Syndromic 1
Syndactyly, Anophthalmia, Bicuspid aortic valve, Abnormal palmar dermatoglyphics, Down-sloping sh... OMIM:309800
Costello Syndrome
Hyperextensibility of the finger joints, Renal insufficiency, Depressed nasal bridge, Anteverted ... OMIM:218040
Neurodevelopmental Disorder With Microcephaly, Cerebral Atrophy, And Visual Impairment
Bicuspid aortic valve, Ventricular septal defect, Partial atrioventricular canal defect, Cardiome... OMIM:620066
Incontinentia Pigmenti
Hypoplasia of the fovea, Delayed eruption of teeth, Eosinophilia, Supernumerary nipple, Leukocyto... OMIM:308300
Oculo-Palato-Cerebral Syndrome
Short foot, Microphthalmia, Small hand ORPHA:2714
Osteoporosis-Pseudoglioma Syndrome
Ventricular septal defect, Metaphyseal widening, Phthisis bulbi, Tibial bowing, Microphthalmia OMIM:259770
Esophageal Atresia
Ventricular septal defect, Choanal atresia, Maternal diabetes, Renal agenesis, Coarctation of aor... ORPHA:1199
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Hypermethylation
Ventricular septal defect, Abnormal heart morphology ORPHA:254534
Congenital Total Pulmonary Venous Return Anomaly
Atrial situs ambiguous, Ventricular septal defect, Dextrocardia, Mitral atresia, Cardiomegaly, Pa... ORPHA:99125
Congenital Tracheal Stenosis
Ventricular septal defect, Abnormality of the kidney, Ascending aorta hypoplasia, Patent ductus a... ORPHA:141127
Visceral Myopathy 1
Vesicoureteral reflux, Urinary retention, Megacystis, Hydronephrosis OMIM:155310
Aicardi Syndrome
Prominence of the premaxilla, Missing ribs, Precocious puberty, Small hand, Hip dysplasia, Delaye... ORPHA:50
Leigh Syndrome
Ventricular septal defect, Lacticaciduria, Methylmalonic aciduria, Generalized aminoaciduria, Ren... ORPHA:506
Hereditary Acrokeratotic Poikiloderma
Finger syndactyly, Camptodactyly of finger, Abnormal preputium morphology, Abnormality of the ure... ORPHA:2907
Aicardi Syndrome
Prominence of the premaxilla, Anteverted nares, Proximal placement of thumb, Missing ribs, Precoc... OMIM:304050
Microphthalmia, Isolated, With Coloboma 9
Microphthalmia OMIM:615145
Familial Exudative Vitreoretinopathy
Microphthalmia ORPHA:891
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 9
Buphthalmos, Microphthalmia OMIM:616538
Aspartylglucosaminuria
Mandibular prognathia, Aspartylglucosaminuria, Abnormal morphology of ulna, Carious teeth, Spleno... ORPHA:93
Neuroocular Syndrome
Hypoplasia of the fovea, Hyperextensibility of the finger joints, Scapular winging, Tapered finge... OMIM:619539
Oculoauricular Syndrome
Short mandibular rami, Phthisis bulbi, Macular hypoplasia, Microphakia, Microphthalmia OMIM:612109
Intellectual Developmental Disorder With Hypotonia And Behavioral Abnormalities
Ventricular septal defect, Cryptorchidism, Coarctation of aorta, Hypoplastic left heart, Tetralog... OMIM:618748
Cerebrofaciothoracic Dysplasia
Wide nose, Short nose ORPHA:1394
Combined Oxidative Phosphorylation Deficiency 15
Ventricular septal defect, Single transverse palmar crease, Ventricular septal hypertrophy, Small... OMIM:614947
Kindler Epidermolysis Bullosa
Urethral stricture, Finger syndactyly, Camptodactyly of finger, Abnormal dental enamel morphology... ORPHA:2908
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Ventricular septal defect, Pericardial effusion, Dilated cardiomyopathy, Atrial septal defect, Pa... ORPHA:26793
Norrie Disease
Hypoplasia of the iris, Microphthalmia, Buphthalmos OMIM:310600
Oculopalatocerebral Syndrome
Microphthalmia OMIM:257910
Split Cord Malformation
Neurogenic bladder, Hypospadias, Urinary incontinence, Detrusor sphincter dyssynergia, Talipes ca... ORPHA:573278
Noonan Syndrome-Like Disorder With Loose Anagen Hair 1
Duplicated collecting system, Ventricular septal defect, Cryptorchidism, Deep palmar crease, Pulm... OMIM:607721
Xeroderma Pigmentosum, Complementation Group B
Microphthalmia, Hypogonadism OMIM:610651
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3
Micrognathia, Buphthalmos, Hypoplasia of the retina, Microphthalmia, Short nasal bridge, Malar fl... OMIM:253280
Holoprosencephaly 14
Anteverted nares, Ventricular septal defect, Proboscis, Aortic valve atresia, Double outlet right... OMIM:619895
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 13
11 pairs of ribs, Multicystic kidney dysplasia, Hydronephrosis, Micropenis, Decreased testicular ... OMIM:615287
Persistent Hyperplastic Primary Vitreous
Buphthalmos, Microphthalmia, Phthisis bulbi, Macular hypoplasia ORPHA:91495
Cutis Laxa, Autosomal Dominant 1
Ventricular septal defect, Convex nasal ridge, Peripheral pulmonary artery stenosis OMIM:123700
Developmental Delay With Or Without Intellectual Impairment Or Behavioral Abnormalities
Renal tubular acidosis, Ventricular septal defect, Depressed nasal bridge, Peripheral pulmonary a... OMIM:619575
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 2
Buphthalmos, Microphthalmia OMIM:613150
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive
Buphthalmos, Microphthalmia, Phthisis bulbi OMIM:221900
Eisenmenger Syndrome
Renal insufficiency, Ventricular septal defect, Patent ductus arteriosus, Clubbing, Hypochromic m... ORPHA:97214
Xeroderma Pigmentosum, Complementation Group D
Microphthalmia OMIM:278730
Neuropathy, Hereditary Sensory And Autonomic, Type Vi
Hand clenching, Ventricular septal defect, Talipes equinovarus OMIM:614653
Norrie Disease
Narrow nasal bridge, Aplasia/Hypoplasia of the lens, Diabetes mellitus, Venous insufficiency, Cry... ORPHA:649
Linear Nevus Sebaceus Syndrome
Microphthalmia, Adenoma sebaceum ORPHA:2612
Lipodystrophy, Familial Partial, Type 7
Polyuria, Pulmonary arteriovenous malformation, Narrow nasal ridge, Type I diabetes mellitus, Sho... OMIM:606721
Brain Small Vessel Disease 1 With Or Without Ocular Anomalies
Hemolytic anemia, Dilation of Virchow-Robin spaces, Cerebral hemorrhage, Retinal arteriolar tortu... OMIM:175780

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 Zfp366

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 Zfp366.

No publications found that use IMPC mice or data for Zfp366.

Order Mouse and ES Cells

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

MGI Allele Allele Type Produced
Zfp366tm1e(KOMP)Wtsi Targeted, non-conditional allele ES Cells
Zfp366tm1a(KOMP)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells

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