Gene Summary

grainyhead like transcription factor 2
BOM,  clft3,  0610015A08Rik,  Tcfcp2l3,  grainyheadlike

IMPC Phenotype Summary

Not Significant
Not tested


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.

Phenotype System Allele Zyg Sex Life Stage P Value
embryonic growth retardation Grhl2em1(IMPC)Mbp HOM E15.5 0.00
abnormal hindbrain development Grhl2em1(IMPC)Mbp HOM E9.5 0.00
abnormal midbrain development Grhl2em1(IMPC)Mbp HOM E9.5 0.00
abnormal abdominal wall morphology Grhl2em1(IMPC)Mbp HOM E15.5 0.00
abnormal heart morphology Grhl2em1(IMPC)Mbp HOM E9.5 0.00
abnormal optic vesicle formation Grhl2em1(IMPC)Mbp HOM E9.5 0.00
exencephaly Grhl2em1(IMPC)Mbp HOM E15.5 0.00
increased startle reflex Grhl2em1(IMPC)Mbp HET Early adult 3.77×10-06
abnormal blood vessel morphology Grhl2em1(IMPC)Mbp HET E15.5 0.00
syndactyly Grhl2em1(IMPC)Mbp HOM E15.5 0.00
abnormal neural tube morphology Grhl2em1(IMPC)Mbp HOM E9.5 0.00
abnormal head shape Grhl2em1(IMPC)Mbp HOM E15.5 0.00
preweaning lethality, complete penetrance Grhl2em1(IMPC)Mbp HOM   Early adult 0.00
abnormal pericardium morphology Grhl2em1(IMPC)Mbp HOM E9.5 0.00
abnormal craniofacial morphology Grhl2em1(IMPC)Mbp HOM E15.5 0.00
abnormal forebrain development Grhl2em1(IMPC)Mbp HOM E9.5 0.00
increased freezing behavior Grhl2em1(IMPC)Mbp HET Early adult 8.81×10-05
abnormal neural tube closure Grhl2em1(IMPC)Mbp HOM E9.5 0.00
abnormal placenta morphology Grhl2em1(IMPC)Mbp HET E15.5 0.00
abnormal limb morphology Grhl2em1(IMPC)Mbp HOM E15.5 0.00

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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.


XRay Images Whole Body Dorso Ventral

60 Images


XRay Images Whole Body Lateral Orientation

20 Images

MicroCT E9.5

Embryo reconstruction

8 Images

Human diseases caused by Grhl2 mutations

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

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

The table below shows human diseases associated to Grhl2 by orthology or direct annotation.

Disease Similarity of
Matching phenotypes Source
Ectodermal Dysplasia/Short Stature Syndrome
Short stature OMIM:616029
Deafness, Autosomal Dominant 28
Corneal Dystrophy, Posterior Polymorphous, 4
Posterior Polymorphous Corneal Dystrophy

The table below shows human diseases predicted to be associated to Grhl2 by phenotypic similarity.

Disease Similarity of
Matching phenotypes Source
Neural Tube Defects, Folate-Sensitive
Spinal dysraphism OMIM:601634
Severe Primary Trimethylaminuria
Depression, Anxiety, Low self esteem, Aggressive behavior, Emotional lability, Negative affectivity ORPHA:468726
Spina Bifida-Hypospadias Syndrome
Spinal dysraphism, Spina bifida ORPHA:3176
Intellectual Developmental Disorder, Autosomal Recessive 25
Anxiety OMIM:614346
Panic Disorder 1
Anxiety OMIM:167870
Fryns Microphthalmia Syndrome
Facial cleft, Neural tube defect OMIM:600776
Obsessive-Compulsive Disorder
Depression, Anxiety, Skin-picking OMIM:164230
Neural Tube Defects, X-Linked
Spina bifida, Anencephaly OMIM:301410
Anencephaly 1
Spina bifida, Anencephaly OMIM:206500
Synpolydactyly 1
Clinodactyly of the 5th finger, Mesoaxial hand polydactyly, 6 metacarpals, 2nd-5th toe middle pha... OMIM:186000
Polydactyly, Preaxial Ii
Preaxial foot polydactyly, Syndactyly, Duplication of thumb phalanx, Postaxial hand polydactyly, ... OMIM:174500
Parietal Foramina 3
Encephalocele OMIM:609566
Brachial Amelia, Cleft Lip, And Holoprosencephaly
Holoprosencephaly, Short femur, Anterior encephalocele, Coloboma, Facial cleft, Omphalocele, Foot... OMIM:601357
Myelopathy, Htlv-1-Associated
Myelopathy OMIM:159580
Dk Phocomelia Syndrome
Encephalocele OMIM:223340
Syndactyly Type 2
Clinodactyly of the 5th finger, 2-3 toe syndactyly, Camptodactyly of finger, Symphalangism affect... ORPHA:93403
Coloboma Of Macula With Type B Brachydactyly
Type B brachydactyly, Coloboma, Bifid distal phalanx of the thumb, Broad distal phalanx of the th... OMIM:120400
Dystonia 11, Myoclonic
Torticollis, Agoraphobia, Depression, Anxiety, Tremor, Writer's cramp OMIM:159900
Myoclonus-Dystonia Syndrome
Torticollis, Depression, Anxiety, Panic attack, Writer's cramp, Personality disorder, Dystonia ORPHA:36899
Myelomeningocele, Cervical spina bifida, Anencephaly, Sirenomelia, Spinal dysraphism, Bifid stern... ORPHA:63260
Syndactyly, Type Iii
Syndactyly, Short 5th finger, Absent middle phalanx of 5th finger, 4-5 finger syndactyly OMIM:186100
Symphalangism With Multiple Anomalies Of Hands And Feet
Symphalangism affecting the phalanges of the toes, Symphalangism of the 4th finger, Absent distal... ORPHA:3246
Scalp Defects-Postaxial Polydactyly Syndrome
Encephalocele ORPHA:1003
Syndactyly Type 1
Symphalangism affecting the phalanges of the hand, Finger syndactyly, Toe syndactyly ORPHA:93402
Intellectual Disability-Spasticity-Ectrodactyly Syndrome
Clinodactyly of the 5th finger, Abnormal hip bone morphology, Bilateral single transverse palmar ... ORPHA:1891
Ophthalmoplegia, External, And Myopia
Spina bifida OMIM:311000
Facial Clefting, Oblique, 1
Deep palmar crease, Facial cleft, Coloboma OMIM:600251
Frontal Encephalocele
Hydrocephalus, Spina bifida, Encephalocele ORPHA:1931
Symphalangism With Multiple Anomalies Of Hands And Feet
Proximal symphalangism of hands, Absent dorsal skin creases over affected joints, Small thenar em... OMIM:185750
Acrocephalopolysyndactyly Type Iv
Joint contracture of the hand, Hand polydactyly, Syndactyly, Camptodactyly, Ulnar deviation of th... OMIM:201020
Hallux Varus And Preaxial Polysyndactyly
Broad hallux, Syndactyly, Hallux varus, Preaxial hand polydactyly OMIM:234280
Anophthalmia Plus Syndrome
Spina bifida, Facial cleft ORPHA:1104
Cerebellar Vermis Aplasia With Associated Features Suggesting Smith-Lemli-Opitz Syndrome And Meckel Syndrome
Occipital encephalocele OMIM:213010
Parietal Foramina 2
Encephalocele OMIM:609597
Acropectoral Syndrome
Preaxial hand polydactyly, Finger syndactyly, Abnormal thorax morphology ORPHA:85203
Cocaine Embryofetopathy
Encephalocele ORPHA:1911
Hydrocephalus, Spina bifida, Holoprosencephaly ORPHA:945
Congenital Radioulnar Synostosis
Dislocated radial head, Abnormality of the musculature of the upper arm, Talipes equinovarus, Abn... ORPHA:3269
Acropectorovertebral Dysplasia
Finger syndactyly, Radial deviation of the 2nd finger, Synostosis of carpal bones, Spina bifida o... OMIM:102510
Supernumerary Nostril
Facial cleft ORPHA:141096
Oculocerebrocutaneous Syndrome
Short distal phalanx of finger, Hydrocephalus, Congenital hip dislocation, Abnormal rib morpholog... ORPHA:1647
Congenital Absence Of Upper Arm And Forearm With Hand Present
Upper limb phocomelia, Abnormal hip bone morphology, Syndactyly, Polydactyly, Abnormal thorax mor... ORPHA:294975
Acrofacial Dysostosis, Catania Type
Clinodactyly of the 5th finger, Pectus excavatum, Inguinal hernia, Small hand, Brachydactyly, Bil... ORPHA:1786
Syndactyly, Type Iv
2-3 toe syndactyly, 1-5 finger complete cutaneous syndactyly, Postaxial polydactyly, Polydactyly,... OMIM:186200
Dysraphism-Cleft Lip/Palate-Limb Reduction Defects Syndrome
Spina bifida, Anencephaly ORPHA:2476
Meckel Syndrome, Type 9
Occipital encephalocele OMIM:614209
Greig Cephalopolysyndactyly Syndrome
Hydrocephalus, Craniosynostosis, 1-3 toe syndactyly, Broad hallux, Umbilical hernia, Scaphocephal... OMIM:175700
Geniospasm 1
Anxiety OMIM:190100
Encephalocele, Midline facial cleft ORPHA:3374
Meckel Syndrome, Type 11
Occipital encephalocele OMIM:615397
Syndactyly Type 5
Short distal phalanx of finger, Clinodactyly of the 5th finger, 2-3 toe syndactyly, Camptodactyly... ORPHA:93406
Intellectual Developmental Disorder, Autosomal Recessive 33
Short toe, Syndactyly OMIM:614341
Wahab Syndrome
Adducted thumb, Syndactyly, Camptodactyly, Clinodactyly, Short foot, Short palm, Short metacarpal... OMIM:615170
Polydactyly, Postaxial, Type A5
Postaxial hand polydactyly, Cutaneous finger syndactyly, Syndactyly, Metacarpal synostosis OMIM:263450
Brachydactyly, Coloboma, And Anterior Segment Dysgenesis
Syndactyly, Brachydactyly, Coloboma, Iris coloboma, Clinodactyly OMIM:610023
Radio-Ulnar Synostosis-Amegakaryocytic Thrombocytopenia Syndrome
Clinodactyly of the 5th finger, Hip dysplasia, Finger syndactyly, Radioulnar synostosis ORPHA:71289
Constricting Bands, Congenital
Talipes equinovarus, Abnormal rib cage morphology, Syndactyly, Bladder exstrophy, Facial cleft, O... OMIM:217100
Radioulnar Synostosis-Microcephaly-Scoliosis Syndrome
Clinodactyly of the 5th finger, Pectus carinatum, Radioulnar synostosis, Abnormal rib morphology,... ORPHA:3268
Camptosynpolydactyly, Complex
Cutaneous syndactyly, Syndactyly, Polydactyly, Camptodactyly OMIM:607539
Greig Cephalopolysyndactyly Syndrome
Hydrocephalus, Craniosynostosis, Preaxial hand polydactyly, Broad hallux phalanx, Postaxial hand ... ORPHA:380
Ossification Of The Posterior Longitudinal Ligament Of Spine
Myelopathy, Spinal cord compression OMIM:602475
Isolated Dandy-Walker Malformation
Encephalocele ORPHA:217
Syndactyly Type 3
Short toe, Finger syndactyly, Camptodactyly of finger ORPHA:93404
Microphthalmia With Cyst, Bilateral Facial Clefts, And Limb Anomalies
Facial cleft, Ethmoidal encephalocele OMIM:607597
Absent Eyebrows And Eyelashes With Mental Retardation
Encephalocele OMIM:200130
Acrofacial Dysostosis, Weyers Type
Clinodactyly of the 5th finger, Small hand, Overlapping fingers, Postaxial hand polydactyly, Faci... ORPHA:952
Camptodactyly With Muscular Hypoplasia, Skeletal Dysplasia, And Abnormal Palmar Creases
Spina bifida OMIM:211960
Hemangiomas, Cavernous, Of Face And Supraumbilical Midline Raphe
Supraumbilical raphe, Bifid sternum OMIM:140850
Congenital Herpes Simplex Virus Infection
Hydranencephaly, Intrauterine growth retardation ORPHA:293
Crossed Polysyndactyly
Postaxial hand polydactyly, Aplasia/Hypoplasia of the thumb, Finger syndactyly ORPHA:2935
Spinal Muscular Atrophy With Mental Retardation
Syndactyly OMIM:271109
Convulsions, Familial Infantile, With Paroxysmal Choreoathetosis
Anxiety, Paroxysmal dystonia, Paroxysmal choreoathetosis OMIM:602066
2Q24 Microdeletion Syndrome
Bullet-shaped distal phalanx of the hallux, Camptodactyly of finger, Long fingers, Coloboma, Hand... ORPHA:1617
Aplasia Cutis Congenita
Spinal dysraphism, Calvarial skull defect, Finger syndactyly, Toe syndactyly ORPHA:1114
Short Rib-Polydactyly Syndrome
Cone-shaped epiphysis, Micromelia, Facial cleft, Bowing of the long bones, Short long bone, Thora... ORPHA:1505
Acropectorovertebral Dysplasia
Short distal phalanx of finger, Pectus excavatum, Camptodactyly of finger, Synostosis of carpal b... ORPHA:957
Microphthalmia, Isolated 4
Coloboma, Postaxial polydactyly OMIM:613094
Oculomaxillofacial Dysostosis
Adducted thumb, Camptodactyly of finger, Brachydactyly, Abnormality of the humerus, Facial cleft ORPHA:1794
Split-Hand/Foot Malformation 4
Ectrodactyly, Aplasia/Hypoplasia of the phalanges of the toes, Split foot, Syndactyly, Triphalang... OMIM:605289
Brachydactyly Type A7
Medially deviated second toe, Clinodactyly of the 5th finger, Short 2nd finger, 2-3 toe syndactyl... ORPHA:93397
Brachydactyly, Type A2
Medially deviated second toe, Clinodactyly of the 5th finger, 2-3 toe syndactyly, Triangular shap... OMIM:112600
Hypertelorism, Microtia, Facial Clefting Syndrome
Small thenar eminence, 2-3 toe syndactyly, Short 5th finger, Facial cleft OMIM:239800
Cobblestone Lissencephaly Without Muscular Or Ocular Involvement
Hydrocephalus, Occipital encephalocele ORPHA:352682
Nevus Comedonicus Syndrome
Spina bifida, Spina bifida occulta ORPHA:64754
Frontofacionasal Dysplasia
Encephalocele, Facial cleft, Short stature ORPHA:1791
Huntington Disease-Like 2
Apathy, Action tremor, Depression, Anxiety, Dystonia, Irritability OMIM:606438
Dystonia 26, Myoclonic
Torticollis, Blepharospasm, Laryngeal dystonia, Depression, Anxiety, Dystonia OMIM:616398
Dystonia 12
Torticollis, Depression, Anxiety, Tremor, Emotional lability, Dystonia OMIM:128235
Parietal Foramina 1
Encephalocele OMIM:168500
Biemond Syndrome Type 2
Preaxial polydactyly, Hydrocephalus, Coloboma ORPHA:141333
Polydactyly, Postaxial, Type A1
Preaxial polydactyly, Syndactyly, Postaxial hand polydactyly, Triphalangeal thumb, Broad thumb OMIM:174200
Chromosome 2Q35 Duplication Syndrome
Distal symphalangism of hands, 3-4 finger syndactyly, Cutaneous syndactyly, 2-3 toe syndactyly OMIM:185900
Radiohumeral Fusions With Other Skeletal And Craniofacial Anomalies
Occipital encephalocele OMIM:614416
Caudal Duplication
Myelomeningocele, Spina bifida, Spinal cord lesion ORPHA:1756
Schisis Association
Encephalocele, Spina bifida, Anencephaly ORPHA:63862
Ritscher-Schinzel Syndrome 1
Double outlet right ventricle, Hydrocephalus, Atrial septal defect, Aortic valve stenosis, Hypopl... OMIM:220210
Distal 7Q11.23 Microduplication Syndrome
Hydrocephalus, Frontal encephalocele ORPHA:261102
Mesoaxial Synostotic Syndactyly With Phalangeal Reduction
Clinodactyly of the 5th finger, 2-3 toe syndactyly, Aplasia/Hypoplasia of the hallux, Finger synd... ORPHA:157801
Liebenberg Syndrome
Radially deviated wrists, Metaphyseal widening, 2-3 finger syndactyly, Brachydactyly, Joint contr... OMIM:186550
Ectrodactyly-Polydactyly Syndrome
Ectrodactyly, Camptodactyly of finger, Brachydactyly, Symphalangism affecting the phalanges of th... ORPHA:1892
Craniofacial Anomalies And Anterior Segment Dysgenesis Syndrome
Hydrocephalus, Anterior encephalocele OMIM:614195
Split-Hand/Foot Malformation 1
Ectrodactyly, Hand oligodactyly, Split foot, Syndactyly, Broad hallux, Triphalangeal thumb, Clino... OMIM:183600
Syndactyly Type 4
Short tibia, Camptodactyly of finger, 6 metacarpals, Triphalangeal thumb, Hand polydactyly, Foot ... ORPHA:93405
Abruzzo-Erickson Syndrome
Short toe, Brachydactyly, Ulnar deviation of finger, Radioulnar synostosis, Coloboma, Iris colobo... ORPHA:921
Chiari Malformation Type Ii
Myelomeningocele, Hydrocephalus, Syringomyelia, Spina bifida, Cervical myelopathy OMIM:207950
15Q11Q13 Microduplication Syndrome
Clinodactyly of the 5th finger, Finger syndactyly ORPHA:238446
Joubert Syndrome 16
Encephalocele, Polydactyly, Coloboma OMIM:614465
Muscular Hypertrophy-Hepatomegaly-Polyhydramnios Syndrome
Hydrocephalus, Occipital encephalocele ORPHA:324416
Brachydactyly-Syndactyly Syndrome
Short digit, Brachydactyly, Syndactyly, Short phalanx of finger, Camptodactyly, Oligodactyly, Fin... OMIM:610713
Mosaic Trisomy 9
Atrial septal defect, Endocardial fibroelastosis, Ventricular septal defect, Dextrocardia, Abnorm... ORPHA:99776
Craniotelencephalic Dysplasia
Hydrocephalus, Frontal encephalocele, Arrhinencephaly ORPHA:1528
Craniotelencephalic Dysplasia
Frontal encephalocele, Arrhinencephaly OMIM:218670
Neural Tube Defects, Susceptibility To
Myelomeningocele, Hydrocephalus, Anencephaly, Spina bifida occulta OMIM:182940
Frontonasal Dysplasia 1
Joint contracture of the hand, Brachydactyly, Camptodactyly, Postaxial hand polydactyly, Coloboma... OMIM:136760
Frontonasal Dysplasia 3
Facial cleft OMIM:613456
Split-Hand/Foot Malformation 6
Hand oligodactyly, Split foot, Split hand, Foot oligodactyly, Finger syndactyly, Toe syndactyly OMIM:225300
Syndactyly, Type V
Short distal phalanx of finger, Carpal synostosis, 3-4 toe syndactyly, Joint contracture of the h... OMIM:186300
Diaphragmatic Defect-Limb Deficiency-Skull Defect Syndrome
Aplasia/Hypoplasia of the ulna, Abnormality of femur morphology, Clinodactyly of the 5th finger, ... ORPHA:2141
Parkinson Disease 6, Autosomal Recessive Early-Onset
Depression, Anxiety, Dystonia, Resting tremor OMIM:605909
Bardet-Biedl Syndrome 5
Syndactyly, Brachydactyly, Polydactyly OMIM:615983
Meckel Syndrome 13
Occipital encephalocele OMIM:617562
Subependymal Nodular Heterotopia
Myelomeningocele, Occipital encephalocele, Nasofrontal encephalocele, Meningocele ORPHA:101030
Santos Syndrome
Talipes equinovarus, Postaxial polydactyly, Preaxial polydactyly, Brachydactyly, Syndactyly, Poly... OMIM:613005
Gómez-López-Hernández Syndrome
Hydrocephalus, Short stature, Brachycephaly, Midface retrusion, Turricephaly ORPHA:1532
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 2
Streaky metaphyseal sclerosis, Congenital hip dislocation, Hypoplasia of the capital femoral epip... OMIM:603546
Aphalangia, Partial, With Syndactyly And Duplication Of Metatarsal Iv
Duplication of metatarsal bones, Cutaneous finger syndactyly, Syndactyly, Aplasia/Hypoplasia of toe OMIM:600384
Ulnar Hemimelia
Aplasia/Hypoplasia of the ulna, Upper limb phocomelia, Radial club hand, Glenoid fossa hypoplasia... ORPHA:93320
Male Pseudohermaphroditism/Mental Retardation Syndrome, Verloes Type
Postnatal growth retardation, Cervical spina bifida, Growth delay OMIM:600122
Carpenter Syndrome
Preaxial foot polydactyly, Talipes equinovarus, Craniosynostosis, Brachydactyly, Polydactyly, Clo... ORPHA:65759
Hypogonadism With Low-Grade Mental Deficiency And Microcephaly
Syndactyly, 2-4 toe syndactyly OMIM:241000
Agoraphobia, Abnormal fear/anxiety-related behavior, Impulsivity, Depression, Separation insecuri... ORPHA:66624
Aminopterin Syndrome Sine Aminopterin
Joint contracture of the hand, Inguinal hernia, Short stature, Arachnodactyly, Brachydactyly, Syn... OMIM:600325
Isolated Anencephaly/Exencephaly
Anencephaly ORPHA:1048
Heart-Hand Syndrome, Slovenian Type
Brachydactyly, Aplasia of the middle phalanx of the hand, Syndactyly, Clinodactyly OMIM:610140
Hemihyperplasia, Isolated
Myelomeningocele OMIM:235000
Polydactyly, Preaxial Iv
1-5 toe syndactyly, Preaxial polydactyly, Duplication of thumb phalanx, 3-4 finger syndactyly, Dy... OMIM:174700
Leber Congenital Amaurosis
Encephalocele ORPHA:65
Gordon Syndrome
Clinodactyly of the 5th finger, Camptodactyly of finger, Pectus excavatum, Finger syndactyly ORPHA:376
Brachydactyly Type B
Short distal phalanx of finger, Broad hallux phalanx, Synostosis of carpal bones, Type B brachyda... ORPHA:93383
Lissencephaly 5
Hydrocephalus, Occipital encephalocele OMIM:615191
Ring Chromosome 21 Syndrome
Short stature, Holoprosencephaly, Small hand, Syndactyly, Narrow palm, Clinodactyly, Abnormal hea... ORPHA:1445
Pelvis-Shoulder Dysplasia
Hydrocephalus, Absent proximal finger flexion creases, Talipes equinovarus, Aplasia/Hypoplasia of... ORPHA:2839
Aminopterin/Methotrexate Embryofetopathy
Hydrocephalus, Aplasia/Hypoplasia of the thumb, Holoprosencephaly, Short stature, Anencephaly, Mi... ORPHA:1908
Cerebrooculonasal Syndrome
Postaxial hand polydactyly, Facial cleft ORPHA:66625
Syndactyly, Mesoaxial Synostotic, With Phalangeal Reduction
Clinodactyly of the 5th finger, Aplasia/Hypoplasia of the hallux, Aplasia/Hypoplasia of the middl... OMIM:609432
Microphthalmia, Isolated, With Coloboma 7
Coloboma OMIM:614497
Hartsfield Syndrome
Encephalocele, Lobar holoprosencephaly ORPHA:2117
Microphthalmia, Isolated, With Coloboma 4
Coloboma OMIM:251505
Abruzzo-Erickson Syndrome
Coloboma, Radioulnar synostosis OMIM:302905
Pfeiffer Syndrome Type 1
Aplasia/Hypoplasia of the thumb, Aqueductal stenosis, Broad hallux phalanx, Short hallux, Broad t... ORPHA:93258
Brachydactyly Type B2
Short distal phalanx of finger, Short toe, Short distal phalanx of toe, Synostosis of carpal bone... ORPHA:140908
Eyebrows, Duplication Of, With Stretchable Skin And Syndactyly
2-3 toe syndactyly, 2-4 finger syndactyly OMIM:227210
Split-Hand/Foot Malformation 2
Split foot, Short phalanx of finger, Split hand, Short metacarpal, Finger syndactyly OMIM:313350
Multiple Epiphyseal Dysplasia, Al-Gazali Type
Delayed epiphyseal ossification, Pectus excavatum, Spindle-shaped finger, Cutaneous syndactyly, G... ORPHA:166024
Severe Microbrachycephaly-Intellectual Disability-Athetoid Cerebral Palsy Syndrome
Camptodactyly of finger, Bilateral single transverse palmar creases, Tapered finger, Abnormal tho... ORPHA:1236
Meckel Syndrome, Type 8
Encephalocele OMIM:613885
Mycophenolate Mofetil Embryopathy
Hydrocephalus, Iris coloboma, Facial cleft, Short palm, Foot polydactyly, Chorioretinal coloboma ORPHA:268249
Split-Hand With Obstructive Uropathy, Spina Bifida, And Diaphragmatic Defects
Myelomeningocele, Hydrocephalus, Split foot, Spina bifida occulta, Split hand, Cutaneous finger s... OMIM:183802
Coffin-Lowry Syndrome
Drumstick terminal phalanges, Pectus excavatum, Inguinal hernia, Hyperextensibility of the finger... OMIM:303600
Congenital Muscular Dystrophy, Fukuyama Type
Hydrocephalus, Plagiocephaly, Dolichocephaly, Camptodactyly of finger, Dilated cardiomyopathy, Br... ORPHA:272
Microphthalmia, Isolated, With Coloboma 6
Coloboma OMIM:613703
Isolated Klippel-Feil Syndrome
Spina bifida ORPHA:2345
Mend Syndrome
Overlapping toe, Hydrocephalus, 2-3 toe syndactyly, Aortic valve stenosis, Short stature, Overlap... OMIM:300960
Craniodigital-Intellectual Disability Syndrome
Brachycephaly, Finger syndactyly, Spina bifida occulta, Short stature ORPHA:1514
Joubert Syndrome 22
Postaxial hand polydactyly, 2-3 toe syndactyly, Postaxial foot polydactyly, Coloboma OMIM:615665
Camptodactyly Syndrome, Guadalajara Type 1
Spina bifida, Intrauterine growth retardation, Short stature ORPHA:1327
Distal Monosomy 13Q
Abnormal cardiac septum morphology, Holoprosencephaly, Short stature, Abnormality of the hand, An... ORPHA:1590
Czeizel-Losonci Syndrome
Myelomeningocele, Ectrodactyly, Hydrocephalus, Split foot, Thin calvarium, 2-3 finger syndactyly,... ORPHA:2437
Fibular Hemimelia
Craniosynostosis, Arthralgia of the hip, Abnormality of fibula morphology, Genu valgum, Hip sublu... ORPHA:93323
Femur-Fibula-Ulna Complex
Abnormality of femur morphology, Abnormal morphology of ulna, Short humerus, Micromelia, Abnormal... ORPHA:2019
Terminal Osseous Dysplasia
Mesomelic leg shortening, Short toe, Toe clinodactyly, Camptodactyly of toe, Camptodactyly of fin... OMIM:300244
Boomerang Dysplasia
Narrow chest, Abnormality of femur morphology, Abnormal morphology of ulna, Aplasia/Hypoplasia of... ORPHA:1263
Mesomelic Dysplasia, Nievergelt Type
Clinodactyly of the 5th finger, Abnormal morphology of ulna, Finger syndactyly, Dolichocephaly, C... ORPHA:2633
Joubert Syndrome 9
Encephalocele OMIM:612285
Ulnar Hypoplasia With Lobster-Claw Deformity Of Feet
Hypoplasia of the ulna, Short finger, Syndactyly, Split foot OMIM:314360
Fibular Aplasia Or Hypoplasia, Femoral Bowing And Poly-, Syn-, And Oligodactyly
Aplasia/Hypoplasia of the ulna, Hypoplasia of the radius, Femoral bowing, Congenital hip dislocat... OMIM:228930
Pseudoprogeria Syndrome
Cranium bifidum occultum ORPHA:2985
Summitt Syndrome
Syndactyly, Oxycephaly, Craniosynostosis OMIM:272350
Trigonobrachycephaly, Bulbous Bifid Nose, Micrognathia, And Abnormalities Of The Hands And Feet
Broad phalanx, Brachycephaly, Trigonocephaly, Broad metatarsal OMIM:275595
Joubert Syndrome 23
Polydactyly, Coloboma OMIM:616490
Spina bifida, Sirenomelia ORPHA:3169
Amish Lethal Microcephaly
Spina bifida ORPHA:99742
Neurodevelopmental Disorder With Dysmorphic Facies And Distal Skeletal Anomalies
Short toe, Pectus excavatum, 2-3 toe syndactyly, Cone-shaped epiphysis, Brachydactyly, Tapered fi... OMIM:618659
Proximal Symphalangism
Clinodactyly of the 5th finger, Elbow ankylosis, Camptodactyly of finger, Synostosis of carpal bo... ORPHA:3250
Holoprosencephaly, Recurrent Infections, And Monocytosis
Short toe, Holoprosencephaly, Brachydactyly, Tapered finger, Brachycephaly, Short finger OMIM:610680
Crouzon Syndrome With Acanthosis Nigricans
Hydrocephalus, Brachycephaly, Midface retrusion, Craniosynostosis OMIM:612247
Lissencephaly 8
Occipital encephalocele OMIM:617255
Pallister-Hall-Like Syndrome
Hydrocephalus, Occipital encephalocele OMIM:241800
Curry-Jones Syndrome
Cutaneous syndactyly of toes, Syndactyly, Duplication of thumb phalanx, Coloboma, Broad thumb, Cu... OMIM:601707
Oculoauriculofrontonasal Syndrome
Encephalocele ORPHA:398156
Intellectual Developmental Disorder, Autosomal Recessive 67
Coloboma OMIM:618295
Brachydactyly, Type B2
Short distal phalanx of finger, Carpal synostosis, Aplasia/Hypoplasia of the middle phalanges of ... OMIM:611377
Pentasomy X
Abnormal cardiac septum morphology, Plagiocephaly, Clinodactyly of the 5th finger, Short stature,... ORPHA:11
White Forelock With Malformations
Clinodactyly of the 5th finger, Atrial septal defect, Dolichocephaly, Spina bifida occulta, Finge... ORPHA:2475
Hypertelorism-Hypospadias-Polysyndactyly Syndrome
Finger syndactyly, Encephalocele, Broad hallux phalanx, Flat occiput, Broad thumb, Exencephaly, B... ORPHA:2211
Parkinson Disease 7, Autosomal Recessive Early-Onset
Leg dystonia, Blepharospasm, Resting tremor, Anxiety, Postural tremor OMIM:606324
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome
Ventricular septal defect, Hydrocephalus, Syndactyly, Polydactyly OMIM:602501
Bartsocas-Papas Syndrome 1
Talipes equinovarus, Absent thumb, Inguinal hernia, Syndactyly, Short phalanx of finger, Short th... OMIM:263650
Carpenter Syndrome 1
Aplasia/Hypoplasia of the middle phalanges of the toes, Ventricular septal defect, Sagittal crani... OMIM:201000
Craniofacial Dyssynostosis With Short Stature
Hydrocephalus, Short stature, Brachyturricephaly, Ventricular septal defect, Frontal bossing, Bra... OMIM:218350
Pfeiffer Syndrome
Hydrocephalus, Elbow ankylosis, Coronal craniosynostosis, Brachyturricephaly, Short middle phalan... OMIM:101600
Meckel Syndrome, Type 2
Encephalocele, Anencephaly, Meningocele OMIM:603194
Oculocerebrocutaneous Syndrome
Orbital encephalocele OMIM:164180
Neurodevelopmental Disorder With Structural Brain Anomalies And Dysmorphic Facies
Hydrocephalus, Plagiocephaly, Unilambdoid synostosis, Ulnar deviation of the wrist, Clinodactyly,... OMIM:618577
Meckel Syndrome, Type 5
Occipital encephalocele, Anencephaly OMIM:611561
Stiff Person Spectrum Disorder
Agoraphobia, Anxiety, Exaggerated startle response, Emotional lability ORPHA:3198
Isolated Hemihyperplasia
Myelomeningocele ORPHA:2128
Thanatophoric Dysplasia Type 2
Hydrocephalus, Holoprosencephaly, Encephalocele ORPHA:93274
Meckel Syndrome, Type 4
Encephalocele, Hydrocephalus, Anencephaly, Meningocele OMIM:611134
Non-Syndromic Bicoronal Craniosynostosis
Brachydactyly, Brachycephaly, Midface retrusion, Metacarpal synostosis ORPHA:35099
Hyperekplexia 3
Exaggerated startle response OMIM:614618
Holoprosencephaly-Craniosynostosis Syndrome
Short distal phalanx of finger, Plagiocephaly, Clinodactyly of the 5th finger, Craniosynostosis, ... ORPHA:2163
Poland Syndrome
Sprengel anomaly, Rib fusion, Unilateral oligodactyly, Short ribs, Unilateral brachydactyly, Synd... OMIM:173800
3C Syndrome
Abnormal mitral valve morphology, Hydrocephalus, Atrioventricular canal defect, Ventricular septa... ORPHA:7
Craniosynostosis, Philadelphia Type
Finger syndactyly ORPHA:1527
Enlarged Parietal Foramina
Myelomeningocele, Occipital encephalocele ORPHA:60015
Mental Retardation Syndrome, Belgian Type
Coloboma OMIM:249599
Blepharocheilodontic Syndrome 1
Cutaneous syndactyly, Clinodactyly, Neural tube defect OMIM:119580
Intellectual Disability-Facial Dysmorphism-Hand Anomalies Syndrome
Short distal phalanx of finger, Short distal phalanx of the thumb, Short toe, 3-4 finger cutaneou... ORPHA:370010
Ectodermal Dysplasia, Ectrodactyly, And Macular Dystrophy Syndrome
Split hand, Syndactyly, Joint contracture of the hand, Camptodactyly OMIM:225280
Acrofacial Dysostosis, Rodríguez Type
Aplasia/Hypoplasia of the ulna, Talipes equinovarus, Aqueductal stenosis, Hand oligodactyly, Arrh... ORPHA:1788
3Mc Syndrome 3
Preaxial polydactyly, Facial cleft, Clinodactyly, Radioulnar synostosis OMIM:248340
Cree Mental Retardation Syndrome
Pectus excavatum, Coloboma, Aplasia/Hypoplasia of the ribs, Rocker bottom foot, Cutaneous finger ... OMIM:606851
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 13
Occipital encephalocele, Hydrocephalus, Anencephaly OMIM:615287
Joubert Syndrome 14
Hydrocephalus, Encephalocele OMIM:614424
Muenke Syndrome
Carpal synostosis, Hydrocephalus, Plagiocephaly, Coronal craniosynostosis, Cone-shaped epiphysis,... ORPHA:53271
Congenital Vertical Talus
Myelomeningocele ORPHA:178382
Split hand/foot malformation 1 (SHFM1)
2-3 toe syndactyly, Split foot, Split hand, Cutaneous finger syndactyly, Toe syndactyly DECIPHER:46
Joubert Syndrome 7
Encephalocele OMIM:611560
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome
Metaphyseal irregularity, Coxa vara, Bowing of the legs, Metaphyseal spurs, Short metacarpal, Nar... ORPHA:85167
Multiple Synostoses Syndrome 1
Pectus excavatum, Short sternum, Clinodactyly of the 4th toe, Symphalangism affecting the phalang... OMIM:186500
Gm2 Gangliosidosis, Ab Variant
Abnormal fear/anxiety-related behavior, Exaggerated startle response, Anxiety, Inappropriate beha... ORPHA:309246
Abnormal cardiac septum morphology, Hydrocephalus, Holoprosencephaly, Iris coloboma, Omphalocele,... ORPHA:3376
Frontonasal Dysplasia-Bifid Nose-Upper Limb Anomalies Syndrome
Frontal encephalocele ORPHA:521308
Laurin-Sandrow Syndrome
Preaxial foot polydactyly, Hydrocephalus, Absent tibia, Absent radius, Preaxial hand polydactyly,... ORPHA:2378
Multinucleated Neurons, Anhydramnios, Renal Dysplasia, Cerebellar Hypoplasia, And Hydranencephaly
Clinodactyly of the 5th finger, 2-3 toe syndactyly, Talipes equinovarus, Cutaneous syndactyly, Br... OMIM:236500
Septopreoptic Holoprosencephaly
Ethmoidal encephalocele ORPHA:280195
Monosomy 5P
Inguinal hernia, Short stature, Small hand, Intrauterine growth retardation, Finger syndactyly ORPHA:281
15Q24 Microdeletion Syndrome
Myelomeningocele, Abnormality of toe, Small hand, Brachydactyly, Coloboma, Abnormal thumb morphol... ORPHA:94065
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly
Narrow chest, Postaxial polydactyly, Hypoplasia of the radius, Hypoplastic ilia, Short ribs, Brac... OMIM:617895
Hypomelanosis Of Ito
Syndactyly, Iris coloboma, Radial deviation of finger, Clinodactyly, Hand polydactyly OMIM:300337
Hydrolethalus Syndrome 2
Hydrocephalus, Anencephaly, Postaxial hand polydactyly, Postaxial foot polydactyly, Preaxial foot... OMIM:614120
Cerebrocostomandibular Syndrome
Myelomeningocele, Short stature, Hydranencephaly, Meningocele, Spina bifida, Intrauterine growth ... ORPHA:1393
Tibial Aplasia-Ectrodactyly Syndrome
Aplasia/Hypoplasia of the ulna, Abnormality of femur morphology, Ectrodactyly, Aplasia/Hypoplasia... ORPHA:3329
6P22 Microdeletion Syndrome
Hydrocephalus, Clinodactyly, Finger syndactyly ORPHA:251046
2-3 finger syndactyly, Diaphyseal thickening, Finger syndactyly, Curved distal phalanges of the hand ORPHA:3152
Summitt Syndrome
Plagiocephaly, Clinodactyly of the 5th finger, Craniosynostosis, Camptodactyly of finger, Brachyd... ORPHA:3210
Acromelic Frontonasal Dysostosis
Encephalocele OMIM:603671
Bryant-Li-Bhoj Neurodevelopmental Syndrome 2
Plagiocephaly, Bicuspid aortic valve, Atrial septal defect, Hypoplastic left heart, Prominent fin... OMIM:619721
Meckel Syndrome, Type 10
Occipital encephalocele, Anencephaly OMIM:614175
Brachydactyly, Type B1
Joint contracture of the hand, Syndactyly, Type B brachydactyly, Aplasia/Hypoplasia of the distal... OMIM:113000
Fountain Syndrome
Spina bifida, Spina bifida occulta, Short stature ORPHA:3219
Holt-Oram Syndrome
Aplasia of the ulna, Short clavicles, Pectus excavatum, Thoracic scoliosis, Absent thumb, Hypopla... OMIM:142900
Cutis Laxa, Autosomal Recessive, Type Iie
Clinodactyly of the 5th finger, Pectus excavatum, Inguinal hernia, Deep palmar crease, Brachydact... OMIM:619451
Cornelia De Lange Syndrome 2
Short stature, Hypertrophic cardiomyopathy, Small hand, Brachydactyly, Limited elbow movement, Cl... OMIM:300590
Fatco Syndrome
Absent hand, Abnormality of tibia morphology, Abnormality of fibula morphology, Tarsal synostosis... ORPHA:2492
Craniofacial Dysplasia-Short Stature-Ectodermal Anomalies-Intellectual Disability Syndrome
Hydrocephalus, Atrial septal defect, Aortic valve stenosis, Inguinal hernia, Short stature, Small... ORPHA:459061
Holt-Oram Syndrome
Sprengel anomaly, Abnormal clavicle morphology, Pectus excavatum, Absent thumb, Down-sloping shou... ORPHA:392
Muenke Syndrome
Cone-shaped epiphyses of the phalanges of the hand, Plagiocephaly, Thimble-shaped middle phalange... OMIM:602849
Intellectual Developmental Disorder With Behavioral Abnormalities And Craniofacial Dysmorphism With Or Without Seizures
Plagiocephaly, Clinodactyly of the 5th finger, Syndactyly, Tapered finger OMIM:618725
Intellectual Disability-Craniofacial Dysmorphism-Cryptorchidism Syndrome
Clinodactyly of the 5th finger, Pectus excavatum, Slender finger, Inguinal hernia, Coloboma, Sing... ORPHA:329224
Frontonasal Dysplasia-Severe Microphthalmia-Severe Facial Clefting Syndrome
Camptodactyly of finger, Brachydactyly, Finger clinodactyly, Cranium bifidum occultum, Pectoral m... ORPHA:306542
Craniosynostosis-Hydrocephalus-Arnold-Chiari Malformation Type I-Radioulnar Synostosis Syndrome
Brachycephaly, Hydrocephalus, Craniosynostosis, Radioulnar synostosis, Umbilical hernia, Bowing o... ORPHA:171839
Acro-Renal-Ocular Syndrome
Short distal phalanx of the thumb, Finger syndactyly, Radial club hand, Broad hallux phalanx, Sho... ORPHA:959
Myelomeningocele, Hydrocephalus, Holoprosencephaly, Anencephaly, Spinal dysraphism, Rhizomelia, E... ORPHA:63259
Waardenburg Syndrome Type 1
Spina bifida, Meningocele ORPHA:894
Developmental And Epileptic Encephalopathy 8
Exaggerated startle response OMIM:300607
Pai Syndrome
Encephalocele ORPHA:1993
Verheij Syndrome
Hip dislocation, Short 5th finger, Clinodactyly, Coloboma OMIM:615583
Frontonasal Dysplasia 2
Encephalocele, Intrauterine growth retardation, Tessier number 13 facial cleft OMIM:613451
Meckel Syndrome, Type 3
Hydrocephalus, Occipital encephalocele OMIM:607361
Thoraco-Abdominal Enteric Duplication
Diastomatomyelia, Meningocele ORPHA:1759
Cornelia De Lange Syndrome 4 With Or Without Midline Brain Defects
Coxa vara, Clinodactyly of the 5th finger, 2-3 toe syndactyly, Short stature, Brachydactyly, Shor... OMIM:614701
2Q31.1 Microdeletion Syndrome
Ectrodactyly, Clinodactyly of the 5th finger, Abnormal morphology of ulna, Inguinal hernia, Broad... ORPHA:251014
Crouzon Syndrome-Acanthosis Nigricans Syndrome
Hydrocephalus, Brachydactyly, Frontal bossing, Abnormal metacarpal morphology, Brachycephaly, Tur... ORPHA:93262
Dihydropyrimidine Dehydrogenase Deficiency
Coloboma OMIM:274270
Bardet-Biedl Syndrome 4
Syndactyly, Brachydactyly, Polydactyly OMIM:615982
Charlie M Syndrome
Brachydactyly, Abnormal metacarpal morphology, Triphalangeal thumb, Split hand, Finger syndactyly ORPHA:1406
Craniosynostosis, Herrmann-Opitz Type
Brachycephaly, Short stature, Craniosynostosis, Micromelia, Brachydactyly, Split hand, Turricepha... ORPHA:2145
Thumb Deformity-Alopecia-Pigmentation Anomaly Syndrome
Finger syndactyly, Camptodactyly of finger, Triphalangeal thumb, Palmoplantar keratoderma, Short ... ORPHA:2251
Laurence-Moon Syndrome
Short stature, Brachydactyly, Bilateral single transverse palmar creases, Iris coloboma, Hand pol... ORPHA:2377
Wildervanck Syndrome
Meningocele ORPHA:3456
Cranioectodermal Dysplasia
Short distal phalanx of finger, Clinodactyly of the 5th finger, Craniosynostosis, Dolichocephaly,... ORPHA:1515
Antley-Bixler Syndrome Without Genital Anomalies Or Disordered Steroidogenesis
Hydrocephalus, Atrial septal defect, Coronal craniosynostosis, Femoral bowing, Arachnodactyly, Ca... OMIM:207410
Coach Syndrome 2
Hydrocephalus, Chorioretinal coloboma, Coloboma OMIM:619111
Lung Agenesis-Heart Defect-Thumb Anomalies Syndrome
Spina bifida ORPHA:1120
Alkuraya-Kucinskas Syndrome
Overlapping toe, Hydrocephalus, Plagiocephaly, Talipes equinovarus, Adducted thumb, Cutaneous syn... OMIM:617822
Encephalocele, Cranium bifidum occultum, Basal encephalocele ORPHA:391474
Craniofacial Dysostosis With Diaphyseal Hyperplasia
Massively thickened long bone cortices, Short stature, Thin calvarium, Brachydactyly, Micromelia,... OMIM:122900
Isolated Split Hand-Split Foot Malformation
Absent hand, Oligodactyly, Split hand, Aniridia, Finger syndactyly ORPHA:2440
Bresek Syndrome
Hydrocephalus, Plagiocephaly, Postaxial hand polydactyly, Iris coloboma, Growth delay, Intrauteri... ORPHA:85284
Humero-Radial Synostosis
Meningocele ORPHA:3265
Griscelli Syndrome
Hydrocephalus, Encephalocele ORPHA:381
Craniofrontonasal Dysplasia
Sprengel anomaly, Abnormal clavicle morphology, Pectus excavatum, Clinodactyly of the 5th finger,... ORPHA:1520
Gorlin Syndrome
Hydrocephalus, Arachnodactyly, Brachydactyly, Frontal bossing, Iris coloboma, Palmar pits, Brachy... ORPHA:377
Microbrachycephaly-Ptosis-Cleft Lip Syndrome
Abnormality of finger, Severe short stature, Large iliac wing, Cone-shaped epiphysis, Abnormality... ORPHA:2511
Ehlers-Danlos Syndrome, Musculocontractural Type, 2
Talipes equinovarus, Inguinal hernia, Adducted thumb, Arachnodactyly, Camptodactyly, Frontal boss... OMIM:615539
Neu-Laxova Syndrome 2
Spina bifida, Intrauterine growth retardation OMIM:616038
Apert Syndrome
Hydrocephalus, Craniosynostosis, Cutaneous syndactyly, Brachyturricephaly, Rhizomelic arm shorten... OMIM:101200
Frontonasal Dysplasia-Alopecia-Genital Anomalies Syndrome
Encephalocele ORPHA:228390
Adams-Oliver Syndrome
Abnormal pulmonary valve morphology, Short distal phalanx of finger, Hydrocephalus, Calvarial sku... ORPHA:974
Chromosome 3Q13.31 Deletion Syndrome
Dolichocephaly, Plagiocephaly, Brachycephaly, Alobar holoprosencephaly OMIM:615433
Intellectual Developmental Disorder, Autosomal Dominant 4
Syndactyly, Short toe, Midface retrusion OMIM:612581
Coloboma, Ocular, With Or Without Hearing Impairment, Cleft Lip/Palate, And/Or Impaired Intellectual Development
Coloboma OMIM:120433
Cousin Syndrome
Hydrocephalus, Rhizomelia, Absent proximal finger flexion creases, Clinodactyly of the 5th finger... OMIM:260660
Macrophthalmia, Colobomatous, With Microcornea
Coloboma OMIM:602499
Camptodactyly of finger, Brachydactyly, Ulnar deviation of finger, Aplasia/Hypoplasia of the thum... ORPHA:1319
Coach Syndrome 1
Encephalocele, Occipital encephalocele OMIM:216360
Treacher-Collins Syndrome
Branchial fistula, Facial cleft, Encephalocele ORPHA:861
Crouzon Syndrome
Hydrocephalus, Frontal bossing, Multiple suture craniosynostosis, Iris coloboma, Brachycephaly, M... ORPHA:207
Fraser Syndrome 1
Myelomeningocele, Hydrocephalus, Wide pubic symphysis, Aplasia/Hypoplasia of the sternum, Facial ... OMIM:219000
Brachymorphism-Onychodysplasia-Dysphalangism Syndrome
Abnormal mitral valve morphology, Intrauterine growth retardation, Clinodactyly of the 5th finger... ORPHA:1292
Fibular Aplasia, Tibial Campomelia, And Oligosyndactyly Syndrome
Tibial bowing, Hand oligodactyly, Short tibia, Abnormality of the hand, Syndactyly, Foot oligodac... OMIM:246570
Chromosome 15Q11.2 Deletion Syndrome
Plagiocephaly, Slender finger, Abnormal heart morphology OMIM:615656
Short Stature-Craniofacial Anomalies-Genital Hypoplasia Syndrome
Short distal phalanx of finger, Short stature, Arachnodactyly, Camptodactyly of finger, Frontal b... ORPHA:2994
Tibial Hemimelia
Radial club hand, Aplasia of the 2nd metacarpal, Talipes equinovarus, Absent hallux, Polydactyly,... ORPHA:93322
Autosomal Recessive Spondylocostal Dysostosis
Anomalous pulmonary venous return, Inguinal hernia, Short stature, Camptodactyly of finger, Promi... ORPHA:2311
Mohr Syndrome
Metaphyseal irregularity, Hydrocephalus, Clinodactyly of the 5th finger, Bilateral postaxial poly... OMIM:252100
Epiphyseal Dysplasia-Hearing Loss-Dysmorphism Syndrome
Proximal placement of thumb, Abnormal thumb morphology, Finger syndactyly, Abnormality of the wrist ORPHA:1825
Pfeiffer Syndrome Type 2
Hydrocephalus, Aqueductal stenosis, Small hand, Broad hallux phalanx, Short hallux, Deviation of ... ORPHA:93259
Laurin-Sandrow Syndrome
Absent radius, Syndactyly, Triphalangeal thumb, Patellar aplasia, Short foot, Hand polydactyly, F... OMIM:135750
Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency
Plagiocephaly, Short stature, Abnormality of the hand, Syndactyly, Camptodactyly, Ventricular sep... ORPHA:369891
Schizophrenia 1
Short proximal phalanx of the 4th toe, Short stature, Syndactyly, Frontal bossing, Flat occiput OMIM:181510
Weaver Syndrome
Talipes equinovarus, Inguinal hernia, Camptodactyly of finger, Large hands, Broad thumb, Sandal g... ORPHA:3447
Short Stature-Brachydactyly-Obesity-Global Developmental Delay Syndrome
Coloboma, Patellar hypoplasia, Brachydactyly, Short fourth metatarsal ORPHA:464288
Curry-Jones Syndrome
Abnormality of thumb phalanx, Finger syndactyly, Optic disc coloboma, Broad thumb, Iris coloboma,... ORPHA:1553
Neurodevelopmental Disorder With Microcephaly, Impaired Language, Epilepsy, And Gait Abnormalities
Pectus excavatum, Arachnodactyly, Syndactyly, Thoracic kyphosis, Clinodactyly OMIM:619092
Hydrocephalus, Ulnar deviation of the hand, Holoprosencephaly, Postaxial polydactyly, Preaxial po... OMIM:612651
Short Stature, Optic Nerve Atrophy, And Pelger-Huet Anomaly
Short stature, Micromelia, Brachydactyly, Syndactyly, Single transverse palmar crease, Sandal gap... OMIM:614800
Silver-Russell Syndrome Due To A Point Mutation
Ectrodactyly, Clinodactyly of the 5th finger, Inguinal hernia, Syndactyly, Polydactyly, Short 5th... ORPHA:397590
Craniosynostosis 2
Craniosynostosis, Brachyturricephaly, Brachydactyly, Frontal bossing, Triphalangeal thumb, Bicoro... OMIM:604757
Muscle-Eye-Brain Disease
Hydrocephalus, Meningocele, Holoprosencephaly ORPHA:588
Rhizomelic Limb Shortening With Dysmorphic Features
Plagiocephaly, Prominent fingertip pads, Hyperextensibility of the finger joints, Clinodactyly of... OMIM:618821
Microcephaly, Facial Dysmorphism, Renal Agenesis, And Ambiguous Genitalia Syndrome
Overlapping toe, Atrial septal defect, Bilateral talipes equinovarus, Postaxial polydactyly, Prea... OMIM:618142
Fibuloulnar Aplasia Or Hypoplasia With Renal Abnormalities
Hypoplasia of the ulna, Mesomelia, Syndactyly, Neonatal death OMIM:228940
Pontocerebellar Hypoplasia, Type 11
Talipes equinovarus, Coloboma OMIM:617695
Myelomeningocele ORPHA:66637
Filippi Syndrome
Cutaneous syndactyly, Finger clinodactyly, Ventricular septal defect, Single transverse palmar cr... OMIM:272440
Congenital Muscular Dystrophy With Cerebellar Involvement
Hydrocephalus, Occipital encephalocele ORPHA:370959
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 1
Spinal dysraphism, Tethered cord, Short stature OMIM:617660
Impaired Intellectual Development And Distinctive Facial Features With Or Without Cardiac Defects
Talipes equinovarus, Clinodactyly, Coloboma OMIM:616789
Structural Brain Anomalies With Impaired Intellectual Development And Craniosynostosis
Spina bifida occulta, Flat occiput, Bicoronal synostosis, Brachycephaly, Lambdoidal craniosynostosis OMIM:618736
Diaphragmatic Defects, Limb Deficiencies, And Ossification Defects Of Skull
Clinodactyly of the 5th finger, Syndactyly, Omphalocele, Toe syndactyly OMIM:601163
Diabetic Embryopathy
Spinal dysraphism, Hydrocephalus ORPHA:1926
Cleft-Limb-Heart Malformation Syndrome
Syndactyly OMIM:215850
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome
Overlapping toe, Broad phalanx, Clinodactyly of the 5th finger, Pectus excavatum, Thoracic scolio... ORPHA:508498
Vacterl With Hydrocephalus
Hydrocephalus, Aqueductal stenosis, Arrhinencephaly, Spina bifida, Intrauterine growth retardation ORPHA:3412
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome
Hydrocephalus, Frontal bossing, Hand polydactyly, Foot polydactyly, Finger syndactyly, Toe syndac... ORPHA:60040
Abnormality of limb bone morphology, Cardiomyopathy, Neural tube defect, Metaphyseal chondrodyspl... ORPHA:79321
Posterior Meningocele
Occipital meningocele, Hydrocephalus, Tethered cord, Neural tube defect, Meningocele, Lipomyelome... ORPHA:268810
Ritscher-Schinzel Syndrome 2
Short distal phalanx of finger, Overlapping toe, Atrial septal defect, Syndactyly, Camptodactyly,... OMIM:300963
Microphthalmia, Syndromic 13
Coloboma OMIM:300915
Microphthalmia With Limb Anomalies
Hydrocephalus, Abnormality of the upper limb, Sandal gap, Bowing of the long bones, Short long bo... ORPHA:1106
Endove Syndrome, Limb-Only Type
Aplasia of the distal phalanges of the toes, Short middle phalanx of the 2nd finger, Cutaneous sy... OMIM:619217
Temtamy Preaxial Brachydactyly Syndrome
Carpal synostosis, Plagiocephaly, Brachydactyly, Syndactyly, Radioulnar synostosis, Clinodactyly,... OMIM:605282
Craniosynostosis 6
Brachycephaly, Plagiocephaly, Craniosynostosis, Spina bifida occulta, Turricephaly OMIM:616602
Congenital Lipomatous Overgrowth, Vascular Malformations, And Epidermal Nevi
Spinal dysraphism, Tethered cord OMIM:612918
Rubinstein-Taybi Syndrome 2
Broad hallux, Broad thumb, Syndactyly OMIM:613684
Joubert Syndrome With Oculorenal Defect
Hydrocephalus, Encephalocele ORPHA:2318
Meckel Syndrome 14
Holoprosencephaly, Postaxial polydactyly, Single ventricle, Decreased calvarial ossification, Syn... OMIM:619879
Treacher Collins Syndrome 3
Coloboma OMIM:248390
Spondylocostal Dysostosis 4, Autosomal Recessive
Myelomeningocele, Spina bifida occulta, Short stature OMIM:613686
Joubert Syndrome With Renal Defect
Hydrocephalus, Encephalocele ORPHA:220497
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5
Hydrocephalus, Coloboma OMIM:613153
Silver-Russell Syndrome 3
Syndactyly, Finger clinodactyly OMIM:616489
Filippi Syndrome
Clinodactyly of the 5th finger, Severe short stature, Short stature, Bilateral single transverse ... ORPHA:3255
Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities
Hydrocephalus, Short stature, Hip dislocation, Brachycephaly, Coxa valga OMIM:109120
Joubert Syndrome
Hydrocephalus, Encephalocele ORPHA:475
Lumbar Syndrome
Myelomeningocele, Spina bifida ORPHA:83628
Orofaciodigital Syndrome Viii
Short tibia, Syndactyly, Polydactyly OMIM:300484
Opitz-Kaveggia Syndrome
Hydrocephalus, Plagiocephaly, Joint contracture of the hand, Inguinal hernia, Short stature, Prom... OMIM:305450
Pentalogy Of Cantrell
Hydrocephalus, Atrial septal defect, Abnormal pericardium morphology, Anencephaly, Tetralogy of F... ORPHA:1335
Epidermolysis Bullosa, Lethal Acantholytic
Clinodactyly of the 5th finger, Widely spaced toes, Tapered distal phalanges of finger, Syndactyl... OMIM:609638
Short-Rib Thoracic Dysplasia 8 With Or Without Polydactyly
Narrow chest, Acetabular spurs, Lateral clavicle hook, Postaxial polydactyly, Short ribs, Femoral... OMIM:615503
Duane-Radial Ray Syndrome
Absent thumb, Hypoplasia of the radius, Ventricular septal defect, Hypoplasia of the ulna, Sandal... OMIM:607323
Joubert Syndrome 8
Occipital encephalocele OMIM:612291
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects
Hydrocephalus, Craniosynostosis, Metacarpophalangeal joint hyperextensibility, Radioulnar synosto... OMIM:245600
Stiff-Person Syndrome
Agoraphobia, Exaggerated startle response, Opisthotonus, Depression, Anxiety OMIM:184850
Richieri-Costa/Guion-Almeida Syndrome
Short stature, Palmoplantar cutis laxa, Spina bifida occulta, Abnormal digit morphology, Iris col... OMIM:268850
Fibulo-Ulnar Hypoplasia-Renal Anomalies Syndrome
Aplasia/Hypoplasia of the fibula, Aplasia of the proximal phalanges of the hand, Ventricular sept... ORPHA:2256
Intellectual Developmental Disorder, Autosomal Dominant 36
Deviation of the 5th finger, Hydrocephalus, Plagiocephaly, Postaxial polydactyly, Broad hallux, H... OMIM:616362
Chromosome 13Q33-Q34 Deletion Syndrome
Overlapping toe, Talipes equinovarus, Short stature, Pulmonic stenosis, Left ventricular hypertro... OMIM:619148
Otodental Dysplasia
Coloboma OMIM:166750
Isolated Arrhinia
Facial cleft ORPHA:1134
Short Rib-Polydactyly Syndrome, Verma-Naumoff Type
Narrow chest, Short ribs, Micromelia, Abnormal pelvis bone ossification, Postaxial hand polydacty... ORPHA:93271
Aarskog-Scott Syndrome
Clinodactyly of the 5th finger, Pectus excavatum, Inguinal hernia, Small hand, Camptodactyly of f... ORPHA:915
Acrodysostosis 1 With Or Without Hormone Resistance
Intrauterine growth retardation, Hydrocephalus, Disproportionate short-limb short stature, Cone-s... OMIM:101800
Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly
Short distal phalanx of finger, Narrow chest, Postaxial polydactyly, Short ribs, Brachydactyly, P... OMIM:614091
Acrofacial Dysostosis, Palagonia Type
Short stature, Small hand, Spina bifida occulta, Short 4th metacarpal, Midface retrusion, Finger ... ORPHA:1787
Neurodevelopmental Disorder With Microcephaly, Impaired Language, And Gait Abnormalities
Syndactyly, Clinodactyly OMIM:619091
Thrombocytopenia-Absent Radius Syndrome
Absent thumb, Atrioventricular canal defect, Hypoplasia of the radius, Femoral bowing, Ventricula... OMIM:274000
Adams-Oliver Syndrome 6
Calvarial skull defect, Syndactyly, Brachydactyly, Ventricular septal defect, Foot oligodactyly, ... OMIM:616589
Joubert Syndrome With Ocular Defect
Hydrocephalus, Encephalocele ORPHA:220493
Stevenson-Carey Syndrome
Coloboma, Hip dysplasia, Joint contracture of the hand, Camptodactyly OMIM:611961
Desbuquois Dysplasia 2
Narrow chest, Epiphyseal dysplasia, Advanced ossification of carpal bones, Pectus excavatum, Toe ... OMIM:615777
Limb-Mammary Syndrome
Joint contracture of the hand, Split foot, Syndactyly, Camptodactyly, Hallux valgus, Split hand OMIM:603543
Moebius Syndrome
Talipes equinovarus, Brachydactyly, Short phalanx of finger, Syndactyly, Camptodactyly, Radial de... OMIM:157900
Isolated Osteopoikilosis
Abnormality of femur morphology, Abnormality of limb bone, Syndactyly, Abnormal pelvis bone ossif... ORPHA:166119
Chromosome 6Pter-P24 Deletion Syndrome
Hydrocephalus, Clinodactyly of the 5th finger, Atrial septal defect, Hip dysplasia, Tetralogy of ... OMIM:612582
Fetal Trimethadione Syndrome
Intrauterine growth retardation, Atrial septal defect, Bilateral single transverse palmar creases... ORPHA:1913
Dyssegmental Dysplasia, Rolland-Desbuquois Type
Hydrocephalus, Encephalocele OMIM:224400
Ectodermal Dysplasia-Syndactyly Syndrome 2
Palmoplantar keratoderma, Syndactyly, Cardiomegaly OMIM:613576
Treacher Collins Syndrome 2
Coloboma OMIM:613717
Bardet-Biedl Syndrome 9
Postaxial polydactyly, Syndactyly, Brachydactyly, Polydactyly, Postaxial hand polydactyly, Postax... OMIM:615986
Holoprosencephaly 1
Alobar holoprosencephaly, Short stature, Single ventricle, Ethmocephaly, Facial cleft OMIM:236100
Acromelic Frontonasal Dysplasia
Encephalocele, Meningocele ORPHA:1827
Pfeiffer Syndrome Type 3
Aqueductal stenosis, Small hand, Broad hallux phalanx, Brachyturricephaly, Short hallux, Broad th... ORPHA:93260
Short toe, Syndactyly, Brachydactyly, Congenital finger flexion contractures, Hand polydactyly OMIM:114150
Nasopalpebral Lipoma-Coloboma Syndrome
Clinodactyly of the 5th finger, Coloboma OMIM:167730
Dyssegmental Dysplasia, Silverman-Handmaker Type
Hydrocephalus, Encephalocele ORPHA:1865
Vitamin K Antagonist Embryofetopathy
Myelomeningocele, Hydrocephalus, Intrauterine growth retardation ORPHA:1914
Bardet-Biedl Syndrome 8
Situs inversus totalis, Brachycephaly, Postaxial polydactyly OMIM:615985
Meckel Syndrome, Type 6
Occipital encephalocele, Hydrocephalus, Anencephaly OMIM:612284
Peroxisome Biogenesis Disorder 12A (Zellweger)
Double outlet right ventricle, Hydrocephalus, Atrial septal defect, Short stature, Scaphocephaly,... OMIM:614886
Monosomy 13Q14
Trigonocephaly, Clinodactyly of the 5th finger, Aplasia/Hypoplasia of the thumb, Short stature, H... ORPHA:1587
Cenani-Lenz Syndactyly Syndrome
Hypoplasia of the radius, Syndactyly, Hypoplasia of the ulna OMIM:212780
Osteopathia Striata-Cranial Sclerosis Syndrome
Aortic valve stenosis, Severe short stature, Large iliac wing, High iliac wing, Spina bifida occu... ORPHA:2780
Charcot-Marie-Tooth Disease, Type 4B3
Syndactyly OMIM:615284
Nail-Patella Syndrome
Hypoplasia of first ribs, Pectus excavatum, Clinodactyly of the 5th finger, Disproportionate prom... OMIM:161200
Congenital Heart Defects And Ectodermal Dysplasia
Broad thumb, Syndactyly OMIM:617364
Trisomy 18
Short stature, Holoprosencephaly, Anencephaly, Growth delay, Spina bifida, Intrauterine growth re... ORPHA:3380
Intellectual Developmental Disorder With Cardiac Defects And Dysmorphic Facies
Double outlet right ventricle, Overlapping toe, Atrial septal defect, Cutaneous syndactyly, Overl... OMIM:618316
Timothy Syndrome
Cutaneous syndactyly, Syndactyly, Tetralogy of Fallot, Ventricular septal defect, Patent foramen ... OMIM:601005
Limb Body Wall Complex
Myelomeningocele, Hydrocephalus, Aplasia/Hypoplasia involving bones of the thorax, Thoracoabdomin... ORPHA:2369
Kury-Isidor Syndrome
Talipes equinovarus, Brachydactyly, Ventricular septal defect, Frontal bossing, Rocker bottom foo... OMIM:619762
Fg Syndrome Type 1
Hydrocephalus, Plagiocephaly, Atrial septal defect, Inguinal hernia, Craniosynostosis, Short stat... ORPHA:93932
Joubert Syndrome 20
Syndactyly, Postaxial polydactyly OMIM:614970
Cooper-Jabs Syndrome
Short stature, Abnormal hip bone morphology, Camptodactyly of finger, Ventricular septal defect, ... ORPHA:1488
Pseudotrisomy 13 Syndrome
Hydrocephalus, Holoprosencephaly, Encephalocele OMIM:264480
Thrombocytopenia-Absent Radius Syndrome
Aplasia/Hypoplasia of the ulna, Clinodactyly of the 5th finger, Finger syndactyly, Adducted thumb... ORPHA:3320
Satb2-Associated Syndrome Due To A Chromosomal Rearrangement
Tibial bowing, Clinodactyly of the 5th finger, Talipes equinovarus, Slender finger, Abnormal hip ... ORPHA:251028
Focal Dermal Hypoplasia
Abnormal cardiac septum morphology, Short clavicles, Abnormal palmar dermatoglyphics, Inguinal he... ORPHA:2092
Waardenburg Syndrome, Type 1
Myelomeningocele, Spina bifida OMIM:193500
Contractural Arachnodactyly, Congenital
Bicuspid aortic valve, Atrial septal defect, Talipes equinovarus, Camptodactyly, Adducted thumb, ... OMIM:121050
Grange Syndrome
Short palm, Syndactyly ORPHA:79094
Trisomy 20P
Spina bifida, Umbilical hernia ORPHA:261318
Poland Syndrome
Cone-shaped epiphysis, Abnormality of the humerus, Pectus carinatum, Encephalocele, Sprengel anom... ORPHA:2911
Arthrogryposis, Distal, Type 4
Talipes equinovarus, 2-5 finger cutaneous syndactyly, Camptodactyly of 2nd-5th fingers, Deviation... OMIM:609128
Amastia, Bilateral, With Ureteral Triplication And Dysmorphism
Hydrocephalus, Congenital hip dislocation, Syndactyly, Mitral valve prolapse, Cubitus valgus, Umb... OMIM:104350
Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 1
Clinodactyly of the 5th finger, Radial bowing, Limited pronation/supination of forearm, Proximal ... OMIM:605432
Cleft Palate, Cardiac Defects, And Mental Retardation
2-3 toe syndactyly, Atrial septal defect, Secundum atrial septal defect, Short 2nd finger, Short ... OMIM:600987
Methylcobalamin Deficiency Type Cble
Hydrocephalus, Syndactyly, Clinodactyly, Postnatal growth retardation, Intrauterine growth retard... ORPHA:2169
Periventricular Nodular Heterotopia 1
Syndactyly, Clinodactyly, Short finger OMIM:300049
Vacterl/Vater Association
Abnormal cardiac septum morphology, Finger syndactyly, Occipital encephalocele, Anencephaly, Apla... ORPHA:887
Polysyndactyly With Cardiac Malformation
Duplication of phalanx of hallux, Syndactyly, Stillbirth, Preaxial hand polydactyly OMIM:263630
Camptodactyly-Joint Contractures-Facial Skeletal Defects Syndrome
Biparietal narrowing, Short stature, Abnormal hip bone morphology, Camptodactyly of finger, Synos... ORPHA:1323
Hennekam Lymphangiectasia-Lymphedema Syndrome 2
Growth delay, Syndactyly, Pericardial lymphangiectasia, Camptodactyly OMIM:616006
Basal Cell Nevus Syndrome
Sprengel anomaly, Bifid ribs, Short distal phalanx of the thumb, Abnormal sternum morphology, Hyd... OMIM:109400
Aromatic L-Amino Acid Decarboxylase Deficiency
Torticollis, Blepharospasm, Exaggerated startle response, Oculogyric crisis, Athetosis, Choreoath... OMIM:608643
Apert Syndrome
Hydrocephalus, Aplasia/Hypoplasia of the thumb, Brachyturricephaly, Micromelia, Acrobrachycephaly... ORPHA:87
Cenani-Lenz Syndrome
Hypoplasia of the radius, Synostosis of carpal bones, Micromelia, Short thumb, Radioulnar synosto... ORPHA:3258
Adams-Oliver Syndrome 5
Right atrial enlargement, Inguinal hernia, Right ventricular hypertrophy, Pulmonic stenosis, Brac... OMIM:616028
Congenital Hemidysplasia With Ichthyosiform Erythroderma And Limb Defects
Short clavicles, Finger syndactyly, Short ribs, Absent middle phalanx of 3rd finger, Absent middl... OMIM:308050
Sacral Defect With Anterior Meningocele
Myelomeningocele, Hydrocephalus, Tethered cord, Meningocele, Myeloschisis, Hydromyelia OMIM:600145
Microgastria-Limb Reduction Defect Syndrome
Absent hand, Plagiocephaly, Abnormality of finger, Hiatus hernia, Atrial septal defect, Ectrodact... ORPHA:2538
Eem Syndrome
Ectrodactyly, Finger syndactyly ORPHA:1897
Pagod Syndrome
Encephalocele, Spina bifida, Short stature, Meningocele ORPHA:991
Cleidocranial Dysplasia
Coxa vara, Short clavicles, Clinodactyly of the 5th finger, Short stature, Down-sloping shoulders... ORPHA:1452
Anauxetic Dysplasia 3
Plagiocephaly, Metaphyseal cupping, Severe short stature, Femoral bowing, Broad middle phalanx of... OMIM:618853
Acrocallosal Syndrome
Clinodactyly of the 5th finger, Finger syndactyly, Inguinal hernia, Brachydactyly, Duplication of... OMIM:200990
Dyggve-Melchior-Clausen Syndrome, X-Linked