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Gene: Kif7 MGI:1098239

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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:
kinesin family member 7
Synonyms:
N/A

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 Kif7 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 predicted to be associated to Kif7 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Diaphragmatic Hernia, Congenital
Congenital diaphragmatic hernia OMIM:142340
Diaphragmatic Hernia 3
Congenital diaphragmatic hernia OMIM:610187
Hernia, Anterior Diaphragmatic
Congenital diaphragmatic hernia OMIM:306950
Epidermolysis Bullosa With Diaphragmatic Hernia
Congenital diaphragmatic hernia OMIM:226735
Polydactyly, Preaxial Ii
Syndactyly, Duplication of thumb phalanx, Opposable triphalangeal thumb, Preaxial hand polydactyl... OMIM:174500
Syndactyly Type 2
Mesoaxial polydactyly, Sandal gap, Camptodactyly of finger, 2-3 toe syndactyly, Symphalangism aff... ORPHA:93403
Congenital Absence Of Upper Arm And Forearm With Hand Present
Syndactyly, Abnormal lung morphology, Cleft palate, Abnormal heart morphology, Upper limb phocome... ORPHA:294975
Polydactyly, Postaxial, Type A1
Syndactyly, Preaxial hand polydactyly, Postaxial hand polydactyly, Postaxial foot polydactyly, Tr... OMIM:174200
Synpolydactyly 1
2nd-5th toe middle phalangeal hypoplasia, Finger syndactyly, Broad hallux, Mesoaxial hand polydac... OMIM:186000
8p23.1 deletion syndrome
Atrial septal defect, Atrioventricular canal defect, Congenital diaphragmatic hernia, Abnormal he... DECIPHER:39
Acropectoral Syndrome
Pectus excavatum, Partial duplication of thumb phalanx, Preaxial polydactyly, Pectus carinatum, T... OMIM:605967
Polydactyly, Preaxial Iv
Duplication of thumb phalanx, Preaxial polydactyly, Dysplastic distal thumb phalanges with a cent... OMIM:174700
Triphalangeal Thumb With Polysyndactyly
Finger syndactyly, Preaxial hand polydactyly, Postaxial hand polydactyly, Triphalangeal thumb, Br... OMIM:190605
Acropectoral Syndrome
Preaxial hand polydactyly, Abnormal thorax morphology, Finger syndactyly ORPHA:85203
Polydactyly, Preaxial I
Preaxial hand polydactyly, Partial duplication of thumb phalanx, Radial deviation of thumb termin... OMIM:174400
Mmep Syndrome
Median cleft lip, Ventricular septal defect, Cryptorchidism, Orofacial cleft, Split foot, Triphal... ORPHA:3434
Ritscher-Schinzel Syndrome 2
Syndactyly, Atrial septal defect, Broad hallux, Overlapping toe, Camptodactyly of finger, Ventric... OMIM:300963
Diaphragmatic Hernia 2
Agenesis of the diaphragm, Congenital diaphragmatic hernia OMIM:222400
Hallux Varus And Preaxial Polysyndactyly
Preaxial hand polydactyly, Syndactyly, Broad hallux, Hallux varus OMIM:234280
Triphalangeal Thumb, Nonopposable
Polydactyly, Triphalangeal thumb OMIM:190600
Gombo Syndrome
Abnormal heart morphology, Radial deviation of finger, Microphthalmia, Clinodactyly, Brachydactyly OMIM:233270
Polydactyly, Preaxial Iii
Preaxial polydactyly, Triphalangeal thumb OMIM:174600
Cutis Laxa-Marfanoid Syndrome
Emphysema, Flexion contracture, Abnormal heart valve morphology, Congenital diaphragmatic hernia ORPHA:171719
Syndactyly, Type Iv
1-5 finger syndactyly, Postaxial polydactyly, 6 metacarpals, 2-3 toe syndactyly, Supernumerary me... OMIM:186200
Cutis Laxa, Neonatal, With Marfanoid Phenotype
Emphysema, Congenital diaphragmatic hernia, Abnormal heart morphology OMIM:614100
Santos Syndrome
Syndactyly, Postaxial polydactyly, Metatarsus adductus, Preaxial polydactyly, Genu valgum, Polyda... OMIM:613005
Hereditary Continuous Muscle Fiber Activity
Congenital diaphragmatic hernia, Type 1 muscle fiber predominance ORPHA:972
Meckel Syndrome, Type 8
Encephalocele, Occipital encephalocele, Anophthalmia, Cleft upper lip, Pericardial effusion, Clef... OMIM:613885
Craniofacial Conodysplasia
Spinal cord compression, Hydrocephalus, Cone-shaped epiphyses of the phalanges of the hand ORPHA:85168
Microphthalmia, Syndromic 12
Hypoplastic left atrium, Ventricular septal defect, Pulmonary hypoplasia, Congenital diaphragmati... OMIM:615524
Fetal Encasement Syndrome
Omphalocele, Bilateral trilobed lung, Tetralogy of Fallot, Congenital diaphragmatic hernia OMIM:613630
Brachydactyly, Type C
Triangular shaped middle phalanx of the 2nd finger, Hypersegmentation of proximal phalanx of seco... OMIM:113100
Biemond Syndrome Type 2
Hypospadias, Hypogonadotropic hypogonadism, Hydrocephalus, Preaxial polydactyly, Hypogonadism, Mi... ORPHA:141333
Short-Rib Thoracic Dysplasia 17 With Or Without Polydactyly
Death in infancy, Lateral clavicle hook, Postaxial hand polydactyly, Postaxial foot polydactyly, ... OMIM:617405
Orofaciodigital Syndrome Xviii
Sandal gap, Single transverse palmar crease, Postaxial polydactyly, Preaxial polydactyly, Genu va... OMIM:617927
Syndactyly-Polydactyly-Earlobe Syndrome
Broad toe, Preaxial hand polydactyly, 1-2 toe complete cutaneous syndactyly, Preaxial foot polyda... OMIM:186350
Genitopalatocardiac Syndrome
Ventricular septal defect, Hypospadias, Cleft upper lip, Cleft palate, Right aortic arch, Transpo... OMIM:231060
Fallot Complex-Intellectual Disability-Growth Delay Syndrome
Thin upper lip vermilion, Overriding aorta, Single transverse palmar crease, Cryptorchidism, Pate... ORPHA:3304
Preaxial Hallucal Polydactyly
Preaxial hand polydactyly, Preaxial foot polydactyly OMIM:601759
Microphthalmia With Limb Anomalies
Anophthalmia, Single transverse palmar crease, 2-3 toe cutaneous syndactyly, Deep philtrum, Tibia... OMIM:206920
Congenital Radioulnar Synostosis
Syndactyly, Abnormal morphology of the radius, Congenital hip dislocation, Abnormal morphology of... ORPHA:3269
Holzgreve Syndrome
Hand polydactyly, Hypoplastic left heart, Cleft palate, Cleft upper lip OMIM:236110
Neuronal Intestinal Pseudoobstruction
Abnormal cardiac septum morphology, Congenital diaphragmatic hernia ORPHA:99811
Poland Syndrome
Syndactyly, Unilateral oligodactyly, Unilateral brachydactyly, Rib fusion, Short ribs, Sprengel a... OMIM:173800
Scimitar Syndrome
Abnormal lung morphology, Pulmonary artery hypoplasia, Atrial septal defect, Single ventricle, Pa... ORPHA:185
Disorganization, Mouse, Homolog Of
Cleft upper lip, Hip dislocation, Cleft palate, Hand polydactyly, Limb duplication OMIM:223200
Conotruncal Heart Malformations
Broad hallux, Postaxial polydactyly, Complete atrioventricular canal defect, Double outlet right ... OMIM:217095
Heterotaxy, Visceral, 7, Autosomal
Dextrocardia, Mitral atresia, Intestinal malrotation, Situs inversus totalis, Common atrium, Hypo... OMIM:616749
14Q24.1Q24.3 Microdeletion Syndrome
Limited elbow extension and supination, Thin upper lip vermilion, Ventricular septal defect, Inte... ORPHA:401935
Phenobarbital Embryopathy
Hypospadias, Aplasia/Hypoplasia of fingers, Unilateral cleft lip, Abnormal mitral valve morpholog... ORPHA:1919
X-Linked Intellectual Disability, Siderius Type
Cleft upper lip, Cryptorchidism, Preaxial hand polydactyly, Orofacial cleft, Large hands, Decreas... ORPHA:85287
Crossed Polysyndactyly
Finger syndactyly, Aplasia/Hypoplasia of the thumb, Hypoplasia of penis, Abnormality of the philt... ORPHA:2935
Frontonasal Dysplasia 1
Median cleft lip, Postaxial hand polydactyly, Anterior basal encephalocele, Tetralogy of Fallot, ... OMIM:136760
1Q21.1 Microdeletion Syndrome
Broad hallux phalanx, Toe syndactyly, Cryptorchidism, Patent ductus arteriosus, Hydrocephalus, Sh... ORPHA:250989
Congenital Diaphragmatic Hernia
Aplasia/Hypoplasia of the diaphragm, Pulmonary hypoplasia, Congenital diaphragmatic hernia ORPHA:2140
Spondylocostal Dysostosis 3, Autosomal Recessive
Contracture of the proximal interphalangeal joint of the 2nd finger, Rib fusion, Slender finger OMIM:609813
Truncus Arteriosus
Abnormal coronary artery morphology, Anomalous origin of one pulmonary artery from ascending aort... ORPHA:3384
Aminopterin/Methotrexate Embryofetopathy
Encephalocele, Aplasia/Hypoplasia of the thumb, Finger syndactyly, Ventricular septal defect, Mic... ORPHA:1908
Osteochondrodysplasia, Brachydactyly, And Overlapping Malformed Digits
Brachydactyly, Broad hallux, Overlapping toe, Short hallux, Triangular shaped phalanges of the ha... OMIM:618167
Microcephaly, Facial Dysmorphism, Renal Agenesis, And Ambiguous Genitalia Syndrome
Ambiguous genitalia, Overlapping toe, Hypoplastic right heart, Postaxial polydactyly, Ventricular... OMIM:618142
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 3
Syndactyly, Postaxial hand polydactyly, Hydrocephalus, Ventriculomegaly OMIM:615938
Bardet-Biedl Syndrome 19
Ventricular septal defect, Mesoaxial hand polydactyly, Postaxial polydactyly, Partial atrioventri... OMIM:615996
Cleft Palate, Cardiac Defects, And Impaired Intellectual Development
Thin upper lip vermilion, Short 2nd finger, Sandal gap, Broad hallux, Ventricular septal defect, ... OMIM:600987
Adams-Oliver Syndrome 4
Ventricular septal defect, Short toe, Patent ductus arteriosus, Absent middle phalanx of the 3rd ... OMIM:615297
Heart And Brain Malformation Syndrome
Ventricular septal defect, Camptodactyly of finger, High, narrow palate, Cleft lip, Thick lower l... OMIM:616920
Camptosynpolydactyly, Complex
Syndactyly, Polydactyly, Camptodactyly, Cutaneous syndactyly OMIM:607539
Orofaciodigital Syndrome Xvii
Median cleft lip, Short middle phalanx of the 2nd finger, High, narrow palate, Partial duplicatio... OMIM:617926
Distal 7Q11.23 Microduplication Syndrome
Hydrocephalus, Frontal encephalocele, Congenital diaphragmatic hernia ORPHA:261102
Mesoaxial Hexadactyly And Cardiac Malformation
Ventricular septal defect, External genital hypoplasia, Patent ductus arteriosus, Hand polydactyl... OMIM:249670
Radioulnar Synostosis-Microcephaly-Scoliosis Syndrome
Finger syndactyly, Abnormality of the elbow, Abnormal rib morphology, Pectus carinatum, Radioulna... ORPHA:3268
Pmp22-Rai1 Contiguous Gene Duplication Syndrome
Thin upper lip vermilion, Overriding aorta, Bicuspid aortic valve, Sandal gap, Ventricular septal... ORPHA:477817
Microphthalmia, Isolated 4
Microphthalmia, Absent testis, Postaxial polydactyly OMIM:613094
Short-Rib Thoracic Dysplasia 11 With Or Without Polydactyly
Postaxial polydactyly, Polyhydramnios, Lateral clavicle hook, Bell-shaped thorax, Short long bone... OMIM:615633
Diaphragmatic Defect-Limb Deficiency-Skull Defect Syndrome
Omphalocele, Pulmonary hypoplasia, Congenital diaphragmatic hernia ORPHA:2141
Pericardial And Diaphragmatic Defect
Bicuspid aortic valve, Congenital diaphragmatic hernia, Abnormal heart morphology, Aplasia of the... ORPHA:2847
Neurogenic Thoracic Outlet Syndrome
Abnormal rib morphology ORPHA:100073
Becker Nevus Syndrome
Micromelia, Pectus excavatum, Abnormal tibia morphology, Rib fusion, Upper limb asymmetry, Pectus... ORPHA:64755
Seckel Syndrome 9
Recurrent respiratory infections, Clitoral hypertrophy, Ambiguous genitalia, Ventricular septal d... OMIM:616777
Bardet-Biedl Syndrome 7
Postaxial polydactyly, 2-3 toe syndactyly, Polydactyly, Hypogonadism, Narrow mouth, Clinodactyly OMIM:615984
Lethal Congenital Contracture Syndrome 11
Flexion contracture, Elbow flexion contracture, Distal arthrogryposis, Pulmonary hypoplasia, Camp... OMIM:617194
Ritscher-Schinzel Syndrome 1
Syndactyly, Dandy-Walker malformation, Ventricular septal defect, Hypospadias, Hydrocephalus, Dou... OMIM:220210
Trisomy 13
Anophthalmia, Ventricular septal defect, Median cleft lip, Displacement of the urethral meatus, A... ORPHA:3378
Hydrolethalus
Anophthalmia, Micromelia, Cryptorchidism, Postaxial hand polydactyly, Submucous cleft hard palate... ORPHA:2189
Serkal Syndrome
Pulmonic stenosis, Ventricular septal defect, Pulmonary hypoplasia, Congenital diaphragmatic hernia ORPHA:139466
3P25.3 Microdeletion Syndrome
Proximal placement of thumb, High, narrow palate, Deep philtrum, Downturned corners of mouth, Sho... ORPHA:435638
Congenitally Uncorrected Transposition Of The Great Arteries
Levotransposition of the great arteries, Ventricular septal defect, Abnormal pulmonary valve morp... ORPHA:860
Dysraphism-Cleft Lip/Palate-Limb Reduction Defects Syndrome
Ventricular septal defect, Spina bifida, Non-midline cleft lip, Anencephaly, Cleft palate, Aplasi... ORPHA:2476
Diaphragmatic Defects, Limb Deficiencies, And Ossification Defects Of Skull
Omphalocele, Abnormality of the diaphragm, Pulmonary hypoplasia, Congenital diaphragmatic hernia OMIM:601163
Pseudotrisomy 13 Syndrome
Encephalocele, Ventricular septal defect, Dextrocardia, Cleft upper lip, Complete atrioventricula... OMIM:264480
Congenital Heart Defects, Hamartomas Of Tongue, And Polysyndactyly
Broad hallux, Hamartoma of tongue, Complete atrioventricular canal defect, Postaxial hand polydac... OMIM:217085
Tricuspid Atresia
Ventricular septal defect, Hypoplasia of right ventricle, Coarctation of aorta, Persistent left s... ORPHA:1209
Pulmonary Atresia With Intact Ventricular Septum
Pulmonary artery atresia, Hypoplastic right heart OMIM:265150
Intellectual Developmental Disorder With Cardiac Defects And Dysmorphic Facies
Parachute mitral valve, Short philtrum, Atrial septal defect, Pulmonary artery atresia, Patent fo... OMIM:618316
Autosomal Recessive Amelia
Hypoplasia of penis, Small scrotum, Cryptorchidism, Non-midline cleft lip, Orofacial cleft, Aplas... ORPHA:1027
Velocardiofacial Syndrome
Ventricular septal defect, Abnormality of the hand, Cryptorchidism, Velopharyngeal insufficiency,... OMIM:192430
Nevus Comedonicus Syndrome
Finger syndactyly, Toe syndactyly, Spina bifida, Preaxial polydactyly, Spina bifida occulta ORPHA:64754
Microphthalmia, Isolated, With Coloboma 5
Anophthalmia, Bilateral microphthalmos, Orofacial cleft, Holoprosencephaly, Microphthalmia OMIM:611638
Jawad Syndrome
Hallux valgus, Thoracic scoliosis, Single interphalangeal crease of fifth finger, Postaxial polyd... OMIM:251255
Kallmann Syndrome-Heart Disease Syndrome
Short lingual frenulum, Hypogonadotropic hypogonadism, Anomalous origin of left coronary artery f... ORPHA:2326
Joubert Syndrome 18
Occipital encephalocele, Bowing of the long bones, Trident pelvis, Ventricular septal defect, Pos... OMIM:614815
Trisomy 1Q
Ventriculomegaly, Anophthalmia, Toe syndactyly, Arachnodactyly, Camptodactyly of finger, Ventricu... ORPHA:261344
Recombinant Chromosome 8 Syndrome
Atrial septal defect, Thin upper lip vermilion, Ventricular septal defect, Abnormality of the den... OMIM:179613
Pulmonary Atresia With Ventricular Septal Defect
Pulmonary artery atresia, Ventricular septal defect OMIM:178370
Meckel Syndrome, Type 11
Occipital encephalocele, Polydactyly, Oligohydramnios OMIM:615397
Thoracoabdominal Syndrome
Omphalocele, Ventral hernia, Congenital diaphragmatic hernia, Hydrocephalus, Anencephaly, Transpo... OMIM:313850
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1
Ventricular septal defect, Postaxial polydactyly, Abnormally large globe, Hydrocephalus, Vascular... OMIM:603387
Lethal Congenital Contracture Syndrome 10
Overriding aorta, Ventricular septal defect, Cardiomegaly, Narrow palate, Femoral bowing, Macrogl... OMIM:617022
Short-Rib Thoracic Dysplasia 8 With Or Without Polydactyly
Syndactyly, Postaxial polydactyly, Polyhydramnios, Lateral clavicle hook, Preaxial polydactyly, F... OMIM:615503
Anencephaly 2
Anophthalmia, Median cleft lip, Anencephaly, Cleft maxillary alveolar ridge, Median cleft palate OMIM:619452
46,Xx Sex Reversal 5
Secundum atrial septal defect, Hypoplastic left heart, Aplasia of the left hemidiaphragm, Ventric... OMIM:618901
Fallot Complex With Severe Mental And Growth Retardation
Double outlet right ventricle, Tetralogy of Fallot, Ventricular septal defect, Pulmonic stenosis OMIM:601127
Linear Skin Defects With Multiple Congenital Anomalies 1
Clitoral hypertrophy, Overriding aorta, Ventricular septal defect, Single transverse palmar creas... OMIM:309801
Meckel Syndrome, Type 5
Occipital encephalocele, Bowing of the long bones, Cleft upper lip, Postaxial hand polydactyly, A... OMIM:611561
Split hand/foot malformation 1 (SHFM1)
Toe syndactyly, Median cleft lip, Split hand, 2-3 toe syndactyly, Cleft palate, Cutaneous finger ... DECIPHER:46
Mosaic Trisomy 1
Single transverse palmar crease, Orofacial cleft, Finger clinodactyly, Pulmonary artery atresia, ... ORPHA:1692
Orofaciodigital Syndrome V
Thin upper lip vermilion, Recurrent respiratory infections, Median cleft lip, Sandal gap, Ventric... OMIM:174300
Apert Syndrome
Limited elbow movement, Delayed epiphyseal ossification, Cutaneous finger syndactyly, Broad dista... OMIM:101200
Spinal Muscular Atrophy, Type I
Recurrent respiratory infections, Ventricular septal defect, Spinal muscular atrophy, Proximal am... OMIM:253300
Congenital Unilateral Hypoplasia Of Depressor Anguli Oris
Tetralogy of Fallot, Ventricular septal defect, Abnormality of the pulmonary artery, Congenital d... ORPHA:1166
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome
Syndactyly, Ventriculomegaly, Ventricular septal defect, Hydrocephalus, Polydactyly, Microphthalm... OMIM:602501
Pallister-Hall-Like Syndrome
Occipital encephalocele, Toe syndactyly, Median cleft lip, Micromelia, Postaxial hand polydactyly... OMIM:241800
Patent Ductus Arteriosus-Bicuspid Aortic Valve-Hand Anomalies Syndrome
Bicuspid aortic valve, Pseudocoarctation of the aorta, Abnormal hand morphology, Patent ductus ar... ORPHA:228190
Lung Agenesis-Heart Defect-Thumb Anomalies Syndrome
Bicuspid aortic valve, Congenital diaphragmatic hernia, Spina bifida, Abnormal lung lobation, Ano... ORPHA:1120
Holoprosencephaly-Radial Heart Renal Anomalies Syndrome
Aplasia/Hypoplasia of the thumb, Hypoplasia of the ulna, Overriding aorta, Median cleft lip, Abno... ORPHA:3186
Pulmonary Atresia-Intact Ventricular Septum Syndrome
Pulmonary artery atresia, Patent ductus arteriosus, Abnormal tricuspid valve morphology ORPHA:1208
Oculocerebrocutaneous Syndrome
Anophthalmia, Congenital hip dislocation, Cryptorchidism, Orbital encephalocele, Cleft palate, Mi... OMIM:164180
Orofaciodigital Syndrome Viii
Syndactyly, Median cleft lip, Cleft palate, Polydactyly, High palate, Short tibia, Recurrent aspi... OMIM:300484
22Q11.2 Duplication Syndrome
Ventricular septal defect, Cleft palate, Hypoplastic left heart, Transposition of the great arter... ORPHA:1727
Symphalangism With Multiple Anomalies Of Hands And Feet
Finger syndactyly, Small hypothenar eminence, Toe syndactyly, 2-5 finger cutaneous syndactyly, Ab... ORPHA:3246
Femoral-Facial Syndrome
Short femur, Abnormal rib morphology, Rib fusion, Abnormal fibula morphology, Coxa vara, Abnormal... ORPHA:1988
Diaphragmatic Hernia 4, With Cardiovascular Defects
Finger syndactyly, Ventricular septal defect, Optic nerve hypoplasia, Aortopulmonary collateral a... OMIM:620025
Bardet-Biedl Syndrome 5
Syndactyly, External genital hypoplasia, Polydactyly, Hypogonadism, Micropenis, Brachydactyly OMIM:615983
Meckel Syndrome, Type 10
Dilated fourth ventricle, Occipital encephalocele, Ulnar deviation of the hand, Hypospadias, Post... OMIM:614175
Pentalogy Of Cantrell
Encephalocele, Ventricular septal defect, Abnormal pericardium morphology, Hypospadias, Abnormal ... ORPHA:1335
Cleft Palate, Cardiac Defect, Genital Anomalies, And Ectrodactyly
Ventricular septal defect, Hypospadias, Cleft upper lip, Cryptorchidism, Patent ductus arteriosus... OMIM:600460
Microphthalmia, Syndromic 8
Cleft upper lip, Cryptorchidism, Cleft palate, Orofacial cleft, Widely-spaced maxillary central i... OMIM:601349
Simpson-Golabi-Behmel Syndrome, Type 2
Recurrent respiratory infections, Postaxial hand polydactyly, Recurrent upper respiratory tract i... OMIM:300209
Diamond-Blackfan Anemia 6
Ventricular hypertrophy, Ventricular septal defect, Cleft upper lip, Short thumb, Patent ductus a... OMIM:612561
Chromosome 1Q41-Q42 Deletion Syndrome
Thin upper lip vermilion, Tented upper lip vermilion, Ventricular septal defect, Sandal gap, Clef... OMIM:612530
Hypogonadism With Low-Grade Mental Deficiency And Microcephaly
2-4 toe syndactyly, Syndactyly, Male hypogonadism, Azoospermia OMIM:241000
Oculofaciocardiodental Syndrome
Oligodontia, Fused teeth, Clinodactyly of the 5th finger, Short thumb, Patent ductus arteriosus, ... ORPHA:2712
Spinal Muscular Atrophy With Congenital Bone Fractures 2
Skeletal muscle atrophy, Spinal muscular atrophy, Flexion contracture, Increased variability in m... OMIM:616867
Cardioacrofacial Dysplasia 1
Postaxial polydactyly, Accessory oral frenulum, Conical tooth, Complete atrioventricular canal de... OMIM:619142
Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency
Thin upper lip vermilion, Ventricular septal defect, Intestinal malrotation, Postaxial polydactyl... ORPHA:404440
Congenital Heart Defects, Multiple Types, 6
Ventricular septal defect, Hypoplastic pulmonary veins, Secundum atrial septal defect, Complete a... OMIM:613854
Patent Ductus Arteriosus And Bicuspid Aortic Valve With Hand Anomalies
Bicuspid aortic valve, Pseudocoarctation of the aorta, Short toe, Patent ductus arteriosus, Short... OMIM:604381
Spondylometaphyseal Dysplasia, Type A4
Brachydactyly, Coxa valga, Metaphyseal sclerosis, Enlargement of the costochondral junction, Meta... OMIM:609052
Brachial Amelia, Cleft Lip, And Holoprosencephaly
Bilateral cleft palate, Short femur, Ventricular septal defect, Bilateral cleft lip, Cleft upper ... OMIM:601357
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 2
Postaxial hand polydactyly, Hydrocephalus, Ventriculomegaly OMIM:615937
Combined Oxidative Phosphorylation Deficiency 8
Increased variability in muscle fiber diameter, Hypertrophic cardiomyopathy, Pulmonary hypoplasia... OMIM:614096
Facial Clefting, Oblique, 1
Microphthalmia, Deep palmar crease, Cleft palate, Cleft upper lip OMIM:600251
Joubert Syndrome 14
Encephalocele, Tented upper lip vermilion, Ventricular septal defect, Postaxial polydactyly, Hydr... OMIM:614424
Aortic Arch Anomaly-Facial Dysmorphism-Intellectual Disability Syndrome
Overriding aorta, Carious teeth, Abnormal aortic arch morphology, Downturned corners of mouth, Ar... ORPHA:1110
Orofaciodigital Syndrome Type 5
Median cleft lip, Abnormality of the philtrum, Cleft soft palate, Accessory oral frenulum, Agangl... ORPHA:2919
Acrocardiofacial Syndrome
Hallux valgus, Finger syndactyly, Hypoplasia of penis, Toe syndactyly, Mitral stenosis, Camptodac... ORPHA:2008
Orofaciodigital Syndrome Vi
Tibial bowing, Lobulated tongue, High palate, Accessory oral frenulum, Cleft upper lip, Hamartoma... OMIM:277170
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome
Long toe, Hyperextensibility of the finger joints, Thin upper lip vermilion, Ventricular septal d... ORPHA:163979
Anophthalmia Plus Syndrome
Anophthalmia, Spina bifida, Non-midline cleft lip, Cleft palate, Bilateral cleft lip and palate, ... ORPHA:1104
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly
Preaxial polydactyly, Lobulated tongue, Narrow greater sciatic notch, Short tibia, Dandy-Walker m... OMIM:616300
Phaver Syndrome
Broad hallux phalanx, Ventricular septal defect, Camptodactyly of finger, Short thumb, Myelomenin... ORPHA:2876
Meckel Syndrome, Type 4
Encephalocele, Bowing of the long bones, Ventricular septal defect, Postaxial hand polydactyly, H... OMIM:611134
Catel-Manzke Syndrome
Atrial septal defect, Ventriculomegaly, Ventricular septal defect, Camptodactyly of finger, Metat... ORPHA:1388
Syndactyly, Type Iii
Absent middle phalanx of 5th finger, Syndactyly, 4-5 finger syndactyly, Short 5th finger OMIM:186100
14Q11.2 Microdeletion Syndrome
Toe syndactyly, Ventricular septal defect, Exaggerated cupid's bow, Narrow mouth, Deep philtrum, ... ORPHA:261120
Hartsfield Syndrome
Encephalocele, Non-midline cleft lip, Split hand, Cleft palate, Lobar holoprosencephaly, Aplasia/... ORPHA:2117
Intellectual Disability-Spasticity-Ectrodactyly Syndrome
Finger syndactyly, Abnormality of the upper limb, Abnormal hip bone morphology, Clinodactyly of t... ORPHA:1891
Polydactyly, Postaxial, Type A10
Postaxial foot polydactyly, Postaxial hand polydactyly, Postaxial polydactyly type A OMIM:618498
Charlie M Syndrome
Finger syndactyly, Narrow mouth, Non-midline cleft lip, Split hand, Tooth agenesis, Thin vermilio... ORPHA:1406
Short-Rib Thoracic Dysplasia 18 With Polydactyly
Radial bowing, Single transverse palmar crease, Micromelia, Postaxial polydactyly, Thoracic hypop... OMIM:617866
Lymphedema, Cardiac Septal Defects, And Characteristic Facies
Thin upper lip vermilion, Overriding aorta, Ventricular septal defect, Patent ductus arteriosus, ... OMIM:601927
Syndactyly Type 1
Finger syndactyly, Toe syndactyly, Symphalangism affecting the phalanges of the hand ORPHA:93402
Microphthalmia With Limb Anomalies
Venous insufficiency, Tibial bowing, Camptodactyly of 2nd-5th fingers, Foot oligodactyly, High pa... ORPHA:1106
Tetralogy Of Fallot
Cryptorchidism, Thin vermilion border, Clinodactyly of the 5th finger, Tetralogy of Fallot, Brach... ORPHA:3303
Catel-Manzke Syndrome
Single transverse palmar crease, Glossoptosis, High palate, Clinodactyly of the 5th finger, Bifid... OMIM:616145
Triploidy
Finger syndactyly, Hypoplasia of penis, Hypospadias, Intestinal malrotation, Cryptorchidism, Non-... ORPHA:3376
Dandy-Walker Malformation-Postaxial Polydactyly Syndrome
Postaxial hand polydactyly, Dandy-Walker malformation ORPHA:1566
Xk Aprosencephaly Syndrome
Abnormal morphology of the radius, Ventricular septal defect, Abnormal external genitalia, Narrow... ORPHA:3469
1Q21.1 Microduplication Syndrome
Hypospadias, Cryptorchidism, Hydrocephalus, Hip dislocation, Hip dysplasia, Talipes equinovarus, ... ORPHA:250994
Bardet-Biedl Syndrome 11
Polydactyly OMIM:615988
Tibia, Hypoplasia Or Aplasia Of, With Polydactyly
Short tibia, Preaxial polydactyly, Triphalangeal thumb, Absent tibia, Fibular duplication OMIM:188740
Cerebrooculofacioskeletal Syndrome 3
Rocker bottom foot, Cleft palate, Talipes equinovarus, Microphthalmia, Ventriculomegaly OMIM:616570
Orofaciodigital Syndrome Xi
Cleft palate, Postaxial polydactyly OMIM:612913
Schisis Association
Omphalocele, Encephalocele, Spina bifida, Congenital diaphragmatic hernia, Anencephaly ORPHA:63862
Fryns Microphthalmia Syndrome
Microphthalmia, Anophthalmia, Neural tube defect, Bilateral cleft lip and palate OMIM:600776
Acalvaria
Spina bifida, Postaxial hand polydactyly, Hydrocephalus, Abnormal lung lobation, Cleft palate, Ho... ORPHA:945
Hadziselimovic Syndrome
Ventricular hypertrophy, Ventricular septal defect, Thick lower lip vermilion, High palate, Atria... OMIM:612946
Jeune Syndrome
Abnormal clavicle morphology, Toe syndactyly, Micromelia, Postaxial hand polydactyly, Short thora... ORPHA:474
Aorta Coarctation
Bicuspid aortic valve, Pseudocoarctation of the aorta, Cardiomegaly, Patent ductus arteriosus, Hy... ORPHA:1457
Cardiac Diverticulum
Bicuspid aortic valve, Bicuspid pulmonary valve, Pulmonary artery hypoplasia, Atrial septal defec... ORPHA:1686
Endocrine-Cerebroosteodysplasia
Small scrotum, Single transverse palmar crease, Micromelia, Preaxial polydactyly, Tibial bowing, ... OMIM:612651
Otopalatodigital Syndrome Type 2
Preaxial polydactyly, Glossoptosis, Oligodontia, Short palm, Anodontia, Synostosis of carpal bone... ORPHA:90652
Pcna-Related Progressive Neurodegenerative Photosensitivity Syndrome
Congenital diaphragmatic hernia ORPHA:438134
Pierre Robin Sequence With Facial And Digital Anomalies
Tapered finger, Pierre-Robin sequence, Cleft palate, Glossoptosis, Easily subluxated first metaca... OMIM:311895
Structural Heart Defects And Renal Anomalies Syndrome
Overlapping toe, Ventricular septal defect, Partial anomalous pulmonary venous return, Right aort... OMIM:617478
Basal Cell Nevus Syndrome 1
Down-sloping shoulders, Spina bifida, Palmar pits, Hydrocephalus, Irregular ossification of hand ... OMIM:109400
Atrioventricular Septal Defect, Susceptibility To, 2
Pulmonary artery atresia, Atrioventricular canal defect, Right aortic arch with mirror image bran... OMIM:606217
Linear Skin Defects With Multiple Congenital Anomalies 2
Atrial septal defect, Ventricular hypertrophy, Tetralogy of Fallot, Congenital diaphragmatic hernia OMIM:300887
Pagod Syndrome
Encephalocele, Spina bifida, Situs inversus totalis, Meningocele, Abnormal morphology of female i... ORPHA:991
Kapur-Toriello Syndrome
Atrial septal defect, Ventricular septal defect, Single transverse palmar crease, Camptodactyly o... OMIM:244300
Intellectual Disability, Wolff Type
Hypospadias, Camptodactyly of finger, Cryptorchidism, Non-midline cleft lip, Thick lower lip verm... ORPHA:3080
Heart Defects-Limb Shortening Syndrome
Atrial septal defect, Ventricular septal defect, Mesomelic/rhizomelic limb shortening, Abnormal t... ORPHA:1354
Immunodeficiency 90 With Encephalopathy, Functional Hyposplenia, And Hepatic Dysfunction
Pulmonary artery atresia, Ventricular septal defect, Left superior vena cava draining directly to... OMIM:613759
Cerebellar Vermis Aplasia With Associated Features Suggesting Smith-Lemli-Opitz Syndrome And Meckel Syndrome
Occipital encephalocele, Postaxial polydactyly OMIM:213010
Oculoauriculovertebral Spectrum With Radial Defects
Aplasia/Hypoplasia of the thumb, Preaxial hand polydactyly, Non-midline cleft lip, Orofacial clef... ORPHA:2549
Bardet-Biedl Syndrome 14
Polydactyly OMIM:615991
Neurodevelopmental Disorder With Spasticity, Hypomyelinating Leukodystrophy, And Brain Abnormalities
Arthrogryposis multiplex congenita, Unilateral wrist flexion contracture, Pulmonary hypoplasia, K... OMIM:616531
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly
Syndactyly, Ventricular septal defect, Micromelia, Postaxial polydactyly, Hypoplastic ilia, Hypop... OMIM:617895
Polydactyly, Postaxial, Type A8
Postaxial polydactyly, Genu valgum OMIM:618123
2Q24 Microdeletion Syndrome
Toe syndactyly, Camptodactyly of finger, Long fingers, Bullet-shaped distal phalanx of the hallux... ORPHA:1617
Ivic Syndrome
Limited elbow movement, Preaxial polydactyly, Triphalangeal thumb, Hypoplasia of the ulna, Limite... OMIM:147750
Craniofacioskeletal Syndrome
Atrial septal defect, Thin upper lip vermilion, Ventricular septal defect, Hypospadias, Cryptorch... OMIM:300712
Cerebrooculonasal Syndrome
Hypoplasia of penis, Anophthalmia, Postaxial hand polydactyly, High palate, Widely spaced teeth, ... ORPHA:66625
Megalencephaly-Polymicrogyria-Postaxial Polydactyly-Hydrocephalus Syndrome
Ventricular septal defect, Postaxial hand polydactyly, Hydrocephalus, Abnormal cardiac septum mor... ORPHA:83473
Greig Cephalopolysyndactyly Syndrome
Umbilical hernia, Hydrocephalus, Congenital diaphragmatic hernia ORPHA:380
Joubert Syndrome 15
Ambiguous genitalia, Micropenis, Preaxial polydactyly, Exencephaly OMIM:614464
Short-Rib Thoracic Dysplasia 2 With Or Without Polydactyly
Short metacarpal, Rhizomelia, Postaxial hand polydactyly, Broad palm, Short foot, Narrow chest, M... OMIM:611263
Familial Median Cleft Of The Upper And Lower Lips
Irregular dentition, Median cleft lip, Cleft upper lip, Diastema, Cleft lower lip, Fusion of gums ORPHA:401942
Fibular Hemimelia
Anophthalmia, Bowing of the legs, Tibial bowing, Foot oligodactyly, Short tibia, Arthralgia of th... ORPHA:93323
Bardet-Biedl Syndrome 13
Polydactyly OMIM:615990
Primary Ciliary Dyskinesia
Recurrent sinopulmonary infections, Ventriculomegaly, Abnormal atrial arrangement, Atrial situs a... ORPHA:244
Feingold Syndrome 2
Ventricular septal defect, Short middle phalanx of the 2nd finger, Short thumb, 2-3 toe syndactyl... OMIM:614326
Diabetic Embryopathy
Ventricular septal defect, Cryptorchidism, Hydrocephalus, Tetralogy of Fallot, Cleft palate, Spin... ORPHA:1926
Syndactyly Type 4
1-5 finger syndactyly, Toe syndactyly, Camptodactyly of finger, 6 metacarpals, Hand polydactyly, ... ORPHA:93405
Feingold Syndrome Type 2
Toe syndactyly, Ventricular septal defect, Jejunal atresia, Short thumb, Short middle phalanx of ... ORPHA:391646
Arthrogryposis Multiplex Congenita 1, Neurogenic, With Myelin Defect
Hip contracture, Scapular winging, Ankle flexion contracture, Flexion contracture, Elbow flexion ... OMIM:617468
Joubert Syndrome 10
Deep philtrum, Thick vermilion border, Postaxial polydactyly OMIM:300804
Congenital Myopathy 1B, Autosomal Recessive
Skeletal muscle atrophy, Recurrent respiratory infections, Facial palsy, Centrally nucleated skel... OMIM:255320
Fryns Syndrome
Tented upper lip vermilion, Abnormal aortic arch morphology, High palate, Clinodactyly of the 5th... ORPHA:2059
Spondylocostal Dysostosis 2, Autosomal Recessive
Rib fusion OMIM:608681
Temtamy Syndrome
Short toe, Thick lower lip vermilion, Genu varum, Aortic aneurysm, Clinodactyly of the 5th finger... ORPHA:1777
Cardiac-Urogenital Syndrome
Bifid scrotum, Patent urachus, Scimitar anomaly, Atrial septal defect, Micropenis, Mesocardia, Pe... OMIM:618280
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 3
Bicuspid aortic valve, Anomalous origin of left coronary artery from the pulmonary artery, Patent... OMIM:618845
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome
Hypoplasia of penis, Anophthalmia, Ventricular septal defect, Hypospadias, Esophageal atresia, Pa... ORPHA:77298
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins
Bicuspid aortic valve, Parachute mitral valve, Abnormal lung lobation, Atrial septal defect, Atri... OMIM:265380
Polydactyly, Postaxial, Type A9
Postaxial foot polydactyly, Postaxial hand polydactyly OMIM:618219
46,Xx Sex Reversal With Dysgenesis Of Kidneys, Adrenals, And Lungs
Ventricular septal defect, Congenital diaphragmatic hernia, Pulmonary artery stenosis, Bilateral ... OMIM:611812
Carpenter Syndrome
Syndactyly, Finger syndactyly, Toe syndactyly, External genital hypoplasia, Abnormal reproductive... ORPHA:65759
Greig Cephalopolysyndactyly Syndrome
Broad hallux phalanx, Broad hallux, Hypospadias, 1-3 toe syndactyly, Preaxial hand polydactyly, P... OMIM:175700
8P23.1 Duplication Syndrome
Toe syndactyly, Ventricular septal defect, Thick vermilion border, Pulmonic stenosis, Long philtr... ORPHA:251076
Short-Rib Thoracic Dysplasia 20 With Polydactyly
Natal tooth, Postaxial polydactyly, Hamartoma of tongue, Esophageal diverticulum, Complete atriov... OMIM:617925
Bardet-Biedl Syndrome 8
Situs inversus totalis, Hypogonadism, Hypospadias, Postaxial polydactyly OMIM:615985
16P13.11 Microduplication Syndrome
Ventricular septal defect, Arachnodactyly, Coarctation of aorta, Hand polydactyly, Transposition ... ORPHA:261243
Adams-Oliver Syndrome
Encephalocele, Finger syndactyly, Brachydactyly, Abnormal pulmonary valve morphology, Absent toe,... ORPHA:974
Multinodular Goiter-Cystic Kidney-Polydactyly Syndrome
Preaxial foot polydactyly, Postaxial hand polydactyly, Triphalangeal thumb ORPHA:2091
Short-Rib Thoracic Dysplasia 14 With Polydactyly
Postaxial polydactyly, Aplastic clavicle, Micromelia, Accessory oral frenulum, Hamartoma of tongu... OMIM:616546
Congenital Heart Defects, Multiple Types, 8, With Or Without Heterotaxy
Toe syndactyly, Bilateral single transverse palmar creases, Ventricular septal defect, Dextrocard... OMIM:619657
Congenital Heart Defects, Multiple Types, 5
Bicuspid aortic valve, Ventricular septal defect, Dilated cardiomyopathy, Aortic valve stenosis, ... OMIM:617912
Mohr Syndrome
Lobulated tongue, High palate, Short palm, Clinodactyly of the 5th finger, Syndactyly, Accessory ... OMIM:252100
Autosomal Dominant Spondylocostal Dysostosis
Missing ribs, Short thorax, Abnormal rib morphology, Posterior rib fusion, Spina bifida occulta ORPHA:1797
Duane-Radial Ray Syndrome
Optic disc hypoplasia, Preaxial polydactyly, Shoulder dislocation, Triphalangeal thumb, Atrial se... OMIM:607323
Donnai-Barrow Syndrome
Omphalocele, Umbilical hernia, Ventricular septal defect, Congenital diaphragmatic hernia ORPHA:2143
Orofaciodigital Syndrome Iv
Toe syndactyly, Postaxial polydactyly, Accessory oral frenulum, Hamartoma of tongue, Cleft palate... OMIM:258860
Hydrolethalus Syndrome 2
Postaxial hand polydactyly, Hydrocephalus, Anencephaly, Cleft palate, Postaxial foot polydactyly,... OMIM:614120
Microcephaly-Cardiomyopathy Syndrome
Ventricular septal defect, Sandal gap, High, narrow palate, Dilated cardiomyopathy, Clinodactyly ... ORPHA:2515
Craniorachischisis
Omphalocele, Congenital diaphragmatic hernia, Cervical spina bifida, Myelomeningocele, Anencephal... ORPHA:63260
Hypo- And Hypermelanotic Cutaneous Macules-Retarded Growth-Intellectual Disability Syndrome
Abnormal rib morphology ORPHA:2435
Gillessen-Kaesbach-Nishimura Syndrome
Omphalocele, Congenital diaphragmatic hernia, Flexion contracture, Abnormal lung lobation, Abnorm... OMIM:263210
Feingold Syndrome Type 1
Toe syndactyly, Jejunal atresia, Tricuspid stenosis, Short middle phalanx of the 2nd finger, Shor... ORPHA:391641
Cranioacrofacial Syndrome
Dupuytren contracture, Ventricular septal defect, Pulmonic stenosis OMIM:122850
Ankyloblepharon Filiforme Adnatum-Imperforate Anus Syndrome
Tooth agenesis, Non-midline cleft lip, Cleft palate, Cryptorchidism ORPHA:1074
Heterotaxy, Visceral, 4, Autosomal
Ventricular septal defect, Dextrocardia, Complete atrioventricular canal defect, Dextrotransposit... OMIM:613751
Recombinant 8 Syndrome
Atrial septal defect, Small scrotum, Ventricular septal defect, Camptodactyly of finger, Cleft up... ORPHA:96167
Meckel Syndrome 14
Syndactyly, Bowing of the long bones, Occipital encephalocele, Postaxial polydactyly, Postaxial h... OMIM:619879
Kyphomelic Dysplasia
Bowing of the long bones, Anterior rib cupping, Micromelia, Missing ribs, Lateral clavicle hook, ... ORPHA:1801
Acromelic Frontonasal Dysostosis
Encephalocele, Syndactyly, Dilation of Virchow-Robin spaces, Optic nerve hypoplasia, Cleft upper ... OMIM:603671
Intellectual Developmental Disorder, Autosomal Dominant 23
Thin upper lip vermilion, Sandal gap, Dental crowding, Postaxial polydactyly, Hypospadias, Downtu... OMIM:615761
Multiple Synostoses Syndrome 3
Broad hallux, Limited interphalangeal movement, Hallux varus, Humeroradial synostosis, Cleft pala... OMIM:612961
Bardet-Biedl Syndrome 4
Syndactyly, External genital hypoplasia, Abnormality of the dentition, Cryptorchidism, Polydactyl... OMIM:615982
Ventriculomegaly With Cystic Kidney Disease
Ventriculomegaly, Ventricular septal defect, Postaxial polydactyly, Hydrocephalus, Vascular dilat... OMIM:219730
Microphthalmia, Syndromic 9
Anophthalmia, Ventricular septal defect, Agenesis of pulmonary vessels, Patent ductus arteriosus,... OMIM:601186
Baraitser-Winter Syndrome 1
Thin upper lip vermilion, Bicuspid aortic valve, Cleft upper lip, Cryptorchidism, Duplication of ... OMIM:243310
Cayler Cardiofacial Syndrome
Patent ductus arteriosus, Tetralogy of Fallot, Ventricular septal defect OMIM:125520
Orofaciodigital Syndrome Type 10
Radial deviation of the hand, Duplication of thumb phalanx, Tarsal synostosis, Cleft soft palate,... ORPHA:2756
Meacham Syndrome
Ventricular septal defect, Congenital diaphragmatic hernia, Situs inversus totalis, Abnormal lung... ORPHA:3097
Chromosome 3Pter-P25 Deletion Syndrome
Thin upper lip vermilion, Overlapping toe, Postaxial polydactyly, Tapered finger, Cryptorchidism,... OMIM:613792
Nanophthalmos 1
Bilateral microphthalmos OMIM:600165
Microphthalmia, Isolated 7
Microphthalmia OMIM:613704
Nanophthalmos 2
Microphthalmia OMIM:609549
Pallister-Hall Syndrome
Abnormal lung lobation, Anteriorly placed anus, Holoprosencephaly, Micropenis, Distal shortening ... OMIM:146510
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly
Hypoplasia of the ulna, Metaphyseal spurs, Postaxial polydactyly, Thoracic hypoplasia, Lateral cl... OMIM:613091
Biemond Syndrome Ii
Preaxial hand polydactyly, Hydrocephalus OMIM:210350
Autosomal Recessive Spondylocostal Dysostosis
Rib segmentation abnormalities, Finger syndactyly, Camptodactyly of finger, Short thorax, Rib fus... ORPHA:2311
Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly
Syndactyly, Brachydactyly, Hypoplastic scapulae, Bowing of the long bones, Short lingual frenulum... OMIM:614091
Ciliary Dyskinesia, Primary, 39
Recurrent lower respiratory tract infections, Double outlet right ventricle, Bronchiectasis, Dext... OMIM:618254
Preaxial Deficiency, Postaxial Polydactyly, And Hypospadias
Short thumb, Postaxial hand polydactyly, Glandular hypospadias, Short 2nd toe, Short 5th finger OMIM:176305
Isolated Anencephaly
Omphalocele, Congenital diaphragmatic hernia ORPHA:563609
Genitopalatocardiac Syndrome
Hypospadias, Cryptorchidism, Postaxial hand polydactyly, Non-midline cleft lip, Hydrocephalus, Ma... ORPHA:2075
Adams-Oliver Syndrome 1
Encephalocele, Toe syndactyly, Bicuspid aortic valve, Ventricular septal defect, Cleft upper lip,... OMIM:100300
Intellectual Developmental Disorder, Autosomal Recessive 73
Ventricular septal defect, Single transverse palmar crease, Deep philtrum, Patent ductus arterios... OMIM:619717
Meckel Syndrome, Type 1
Occipital encephalocele, External genital hypoplasia, Ambiguous genitalia, female, Lobulated tong... OMIM:249000
Cerebrooculonasal Syndrome
Encephalocele, Ventriculomegaly, Anophthalmia, Optic nerve hypoplasia, Postaxial polydactyly, Pos... OMIM:605627
Mesomelic Dysplasia, Kantaputra Type
Camptodactyly of finger, Tarsal synostosis, Abnormality of the humerus, Abnormal rib morphology, ... ORPHA:1836
Czeizel-Losonci Syndrome
Posterolateral diaphragmatic hernia, Dextrocardia, Spina bifida, Myelomeningocele, Hydrocephalus,... ORPHA:2437
Polydactyly, Postaxial, Type A5
Syndactyly, Postaxial hand polydactyly, Cutaneous finger syndactyly, Metacarpal synostosis OMIM:263450
Split-Foot Malformation-Mesoaxial Polydactyly Syndrome
Aplasia/Hypoplasia of the phalanges of the 3rd toe, Mesoaxial foot polydactyly, 1-2 toe syndactyl... ORPHA:488232
Acrocallosal Syndrome
Downturned corners of mouth, High palate, Short philtrum, Clinodactyly of the 5th finger, Micrope... OMIM:200990
Meckel Syndrome, Type 2
Encephalocele, Bowing of the long bones, Intestinal malrotation, Postaxial hand polydactyly, Meni... OMIM:603194
Keutel Syndrome
Ventricular septal defect, Recurrent bronchitis, Short hallux, Premature fusion of phalangeal epi... OMIM:245150
Microphthalmia With Brain And Digit Anomalies
Finger syndactyly, Anophthalmia, Proximal placement of thumb, Cryptorchidism, Postaxial foot poly... ORPHA:139471
Gordon Syndrome
Finger syndactyly, Camptodactyly of finger, Cryptorchidism, Cleft palate, High palate, Clinodacty... ORPHA:376
17Q12 Microduplication Syndrome
Finger syndactyly, Toe syndactyly, Tracheoesophageal fistula, Cleft palate, Atrial septal defect,... ORPHA:261272
Thanatophoric Dysplasia, Type Ii
Small abnormally formed scapulae, Micromelia, Polyhydramnios, Hypoplastic ilia, Wide-cupped costo... OMIM:187601
Acrocallosal Syndrome
Inguinal hernia, Congenital diaphragmatic hernia ORPHA:36
Fadd-Related Immunodeficiency
Pulmonary artery atresia, Ventricular septal defect ORPHA:306550
Tetralogy Of Fallot
Clinodactyly of the 5th finger, Tetralogy of Fallot OMIM:187500
Yuan-Harel-Lupski Syndrome
Thin upper lip vermilion, Bicuspid aortic valve, Sandal gap, Ventricular septal defect, Aortic ro... OMIM:616652
Ferguson-Bonni Neurodevelopmental Syndrome
Patent foramen ovale, Coronary-pulmonary artery fistula, Congenital diaphragmatic hernia OMIM:619699
Cooper-Jabs Syndrome
Umbilical hernia, Ventricular septal defect, Camptodactyly of finger, Congenital diaphragmatic he... ORPHA:1488
Spinal Muscular Atrophy With Congenital Bone Fractures 1
Spinal muscular atrophy, Secundum atrial septal defect, Patent foramen ovale, Flexion contracture... OMIM:616866
Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked
Ventricular septal defect, Rocker bottom foot, Optic nerve hypoplasia, Coxa valga, Hypospadias, C... OMIM:301056
Cataract-Intellectual Disability-Anal Atresia-Urinary Defects Syndrome
Hypoplasia of penis, Aplasia/Hypoplasia of the lens, Hypospadias, Cryptorchidism, Genu valgum, An... ORPHA:1381
Eng-Strom Syndrome
Abnormal cardiac septum morphology, Ventricular septal defect, Camptodactyly of finger, Brachydac... ORPHA:1937
Microphthalmia With Cyst, Bilateral Facial Clefts, And Limb Anomalies
Optic nerve hypoplasia, Broad proximal phalanges of the hand, Cleft upper lip, High, narrow palat... OMIM:607597
Pierpont Syndrome
Thin upper lip vermilion, Ventriculomegaly, Cryptorchidism, Short toe, Broad philtrum, Deep palma... ORPHA:487825
Intellectual Developmental Disorder, Autosomal Recessive 33
Syndactyly, Short toe OMIM:614341
Diprosopus
Non-midline cleft lip, Abnormal cardiac septum morphology, Anencephaly, Cleft palate ORPHA:1681
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome
Bowing of the long bones, Rhizomelia, Ventricular septal defect, Proximal placement of thumb, Dow... ORPHA:93267
Short-Rib Thoracic Dysplasia 16 With Or Without Polydactyly
Short metacarpal, Brachydactyly, Sandal gap, Postaxial polydactyly, Carious teeth, Short metatars... OMIM:617102
Chromosome 6Pter-P24 Deletion Syndrome
Broad toe, Atrial septal defect, Tented upper lip vermilion, Ventricular septal defect, Rocker bo... OMIM:612582
Split-Hand/Foot Malformation 1
Syndactyly, Broad hallux, Split hand, Hand oligodactyly, Cleft palate, Split foot, Foot oligodact... OMIM:183600
Xy Type Gonadal Dysgenesis-Associated Anomalies Syndrome
Ventricular septal defect, Bilateral single transverse palmar creases, Abnormality of the philtru... ORPHA:1770
Nemaline Myopathy 9
Arthrogryposis multiplex congenita, Nemaline bodies, Ventricular septal defect OMIM:615731
Mental Retardation, Microcephaly, Growth Retardation, Joint Contractures, And Facial Dysmorphism
Preaxial hand polydactyly, Thin upper lip vermilion, Interphalangeal joint contracture of finger,... OMIM:606242
Microcephaly, Congenital Heart Disease, Unilateral Renal Agenesis, And Hyposegmented Lungs
Ventricular septal defect, Cleft palate, Hydranencephaly, Truncus arteriosus, Short distal phalan... OMIM:601355
Ellis-Van Creveld Syndrome
Delayed eruption of teeth, Natal tooth, Hypospadias, Abnormality of the alveolar ridges, Cleft up... OMIM:225500
Cerebrofaciothoracic Dysplasia
Polyhydramnios, Rib fusion, Narrow chest, Bifid ribs, Sprengel anomaly ORPHA:1394
Tonne-Kalscheuer Syndrome
Pulmonary hypoplasia, Congenital diaphragmatic hernia, Abnormal heart morphology OMIM:300978
Oliver Syndrome
Postaxial hand polydactyly OMIM:258200
Polydactyly, Postaxial, Type A2
Postaxial hand polydactyly OMIM:602085
Sonoda Syndrome
High axial triradius, Ventricular septal defect, Narrow mouth OMIM:270460
Syngap1-Related Developmental And Epileptic Encephalopathy
Hypospadias, Postaxial polydactyly, Abnormal tongue physiology, Wide mouth, Thin vermilion border... ORPHA:544254
Aase-Smith Syndrome I
Ventricular septal defect, Hydrocephalus, Cleft palate, Talipes equinovarus, Open mouth, Slender ... OMIM:147800
Aarskog-Scott Syndrome
Delayed eruption of teeth, Finger syndactyly, Single transverse palmar crease, Camptodactyly of f... ORPHA:915
Charge Syndrome
Bifid scrotum, Anophthalmia, Aqueductal stenosis, Abnormal tibia morphology, Holoprosencephaly, C... ORPHA:138
Meckel Syndrome, Type 6
Occipital encephalocele, Abnormal internal genitalia, Cleft upper lip, Postaxial hand polydactyly... OMIM:612284
Cardioacrofacial Dysplasia 2
Tented upper lip vermilion, Accessory oral frenulum, Conical tooth, Common atrium, Postaxial hand... OMIM:619143
Arthrogryposis, Distal, Type 1C
Hip contracture, Pursed lips, Shoulder flexion contracture, Rocker bottom foot, Camptodactyly of ... OMIM:619110
Heart-Hand Syndrome Type 2
Aplasia/Hypoplasia of the thumb, Abnormal clavicle morphology, Abnormal morphology of ulna, Micro... ORPHA:1350
Microphthalmia, Syndromic 2
Anophthalmia, 2-3 toe cutaneous syndactyly, Oligodontia, Fused teeth, Atrial septal defect, Contr... OMIM:300166
Weyers Ulnar Ray/Oligodactyly Syndrome
Proximal placement of thumb, Absent thumb, Cleft upper lip, Hypoplasia of the radius, Hand oligod... OMIM:602418
Cardiomyopathy, Dilated, 1S
Bicuspid aortic valve, Dilated cardiomyopathy, Ebstein anomaly of the tricuspid valve, Coarctatio... OMIM:613426
Charge Syndrome
Anophthalmia, Abnormal palmar dermatoglyphics, External genital hypoplasia, Secundum atrial septa... OMIM:214800
Burn-Mckeown Syndrome
Ventricular septal defect, Cleft upper lip, 2-3 toe syndactyly, Cleft palate, Thin vermilion bord... OMIM:608572
Bryant-Li-Bhoj Neurodevelopmental Syndrome 2
Atrial septal defect, Arachnodactyly, Bicuspid aortic valve, Postaxial polydactyly, Tapered finge... OMIM:619721
Hyperphosphatasia With Impaired Intellectual Development Syndrome 1
Thin upper lip vermilion, Tented upper lip vermilion, Aganglionic megacolon, Abnormally large glo... OMIM:239300
Chromosome 13Q33-Q34 Deletion Syndrome
Bifid scrotum, Irregular dentition, Tented upper lip vermilion, Single transverse palmar crease, ... OMIM:619148
Robinow Syndrome, Autosomal Dominant 3
Hypoplastic right heart, Anteriorly placed anus, Downturned corners of mouth, Clitoral hypoplasia... OMIM:616894
Cleft Lip/Palate-Ectodermal Dysplasia Syndrome
Abnormality of the philtrum, Cleft upper lip, Palmoplantar hyperkeratosis, Cleft palate, Cutaneou... OMIM:225060
6P22 Microdeletion Syndrome
Finger syndactyly, Patent ductus arteriosus, Hydrocephalus, Clinodactyly, Abnormal palate morphology ORPHA:251046
Macrosomia-Microphthalmia-Cleft Palate Syndrome
Microphthalmia, Recurrent respiratory infections, Median cleft palate ORPHA:2432
Heterotaxy, Visceral, 1, X-Linked
Congenital hip dislocation, Cardiomegaly, Aqueductal stenosis, Dextrotransposition of the great a... OMIM:306955
Scalp Defects And Postaxial Polydactyly
Postaxial polydactyly type A OMIM:181250
Loeys-Dietz Syndrome 2
Bicuspid aortic valve, Descending thoracic aorta aneurysm, Bicuspid pulmonary valve, Atrial septa... OMIM:610168
Congenital Hypotonia, Epilepsy, Developmental Delay, And Digital Anomalies
Atrial septal defect, Thin upper lip vermilion, Overlapping toe, Ventricular septal defect, Paten... OMIM:618494
Hydrocephalus-Obesity-Hypogonadism Syndrome
Hypergonadotropic hypogonadism, High, narrow palate, Hydrocephalus, Mitral valve prolapse, Azoosp... ORPHA:2183
Tarp Syndrome
Meckel diverticulum, Single transverse palmar crease, Rocker bottom foot, Postaxial polydactyly, ... OMIM:311900
Neurodevelopmental Disorder With Growth Retardation, Dysmorphic Facies, And Corpus Callosum Abnormalities
Smooth philtrum, Ulnar deviation of the hand, Ventricular septal defect, Proximal placement of th... OMIM:620113
Verloove Vanhorick-Brubakk Syndrome
Finger syndactyly, Tarsal synostosis, Cryptorchidism, Non-midline cleft lip, Abnormal femur morph... ORPHA:3429
Radio-Ulnar Synostosis-Amegakaryocytic Thrombocytopenia Syndrome
Clinodactyly of the 5th finger, Finger syndactyly, Radioulnar synostosis, Hip dysplasia ORPHA:71289
Hogue-Janssen Syndrome 2
Tented upper lip vermilion, Broad hallux, Postaxial polydactyly, Hydrocephalus, Hip dysplasia, De... OMIM:616362
Spondylocostal Dysostosis 1, Autosomal Recessive
Death in infancy, Rib fusion OMIM:277300
Blepharocheilodontic Syndrome 1
Cleft upper lip, Conical tooth, Cutaneous syndactyly, Neural tube defect, Hypodontia, Clinodactyl... OMIM:119580
Microgastria-Limb Reduction Defect Syndrome
Anophthalmia, Abnormal finger morphology, Abnormal lung lobation, Atrial septal defect, Phocomeli... ORPHA:2538
Orofaciodigital Syndrome Type 6
Syndactyly, Mesoaxial polydactyly, Hamartoma of tongue, Bilateral cryptorchidism, Central Y-shape... ORPHA:2754
Growth Retardation, Developmental Delay, And Facial Dysmorphism
Ventricular septal defect, Protruding tongue, Cryptorchidism, Patent ductus arteriosus, Hydroceph... OMIM:612938
Double Outlet Right Ventricle
Ventricular septal defect, Intestinal malrotation, Submucous cleft hard palate, Double outlet rig... ORPHA:3426
Spondylocostal Dysostosis 5
Pectus carinatum, Posterior rib fusion, Supernumerary ribs, Missing ribs OMIM:122600
Coloboma, Ocular, With Or Without Hearing Impairment, Cleft Lip/Palate, And/Or Impaired Intellectual Development
Microphthalmia, Cleft palate, Cleft upper lip OMIM:120433
Orofaciodigital Syndrome Type 2
Complete duplication of hallux phalanx, Central retinal vessel vascular tortuosity, Finger clinod... ORPHA:2751
Hirschsprung Disease With Ulnar Polydactyly, Polysyndactyly Of Big Toes, And Ventricular Septal Defect
Aganglionic megacolon, Preaxial foot polydactyly, Polysyndactyly of hallux, Ventricular septal de... OMIM:235750
Syndactyly Type 3
Finger syndactyly, Short toe, Camptodactyly of finger ORPHA:93404
Synpolydactyly 2
Toe syndactyly, Tarsal synostosis, Polydactyly, Carpal synostosis, Metatarsal synostosis, Metacar... OMIM:608180
Thomas Syndrome
Hypoplastic left heart, Cleft palate, Cleft upper lip ORPHA:3316
Bardet-Biedl Syndrome 10
Hypogonadism, Polydactyly OMIM:615987
Mesomelic Dwarfism-Cleft Palate-Camptodactyly Syndrome
Pulmonary hypoplasia, Abnormal lung lobation, Camptodactyly of finger ORPHA:2631
Spinal Muscular Atrophy With Mental Retardation
Syndactyly OMIM:271109
Chromosome 18Q Deletion Syndrome
Proximal placement of thumb, Downturned corners of mouth, Short philtrum, Atrial septal defect, M... OMIM:601808
Pierre Robin Syndrome And Oligodactyly
Pierre-Robin sequence, Hand oligodactyly, Cleft palate OMIM:172880
Tetrasomy 15Q26
Arachnodactyly, Patent ductus arteriosus, Hypoplastic aortic arch, Hydrocephalus, High palate, Ca... OMIM:614846
Microphthalmia-Ankyloblepharon-Intellectual Disability Syndrome
Microphthalmia, Anophthalmia ORPHA:85275
Meacham Syndrome
Bicuspid aortic valve, Aplasia of the right hemidiaphragm, Ventricular septal defect, Dextrocardi... OMIM:608978
Feingold Syndrome 1
Ventricular septal defect, Tricuspid stenosis, Jejunal atresia, Short thumb, Short toe, 4-5 toe s... OMIM:164280
Meckel Syndrome
Encephalocele, Bowing of the long bones, Anophthalmia, True hermaphroditism, Aplasia/Hypoplasia o... ORPHA:564
Holoprosencephaly
Hypoplasia of penis, Anophthalmia, Deep philtrum, Holoprosencephaly, Dandy-Walker malformation, E... ORPHA:2162
Achondrogenesis, Type Ib
Micromelia, Edema, Hypoplastic ilia, Polyhydramnios, Hydrops fetalis, Stillbirth, Narrow chest, S... OMIM:600972
Metaphyseal Chondrodysplasia, Schmid Type
Broad proximal phalanges of the hand, Bowing of the legs, Short tubular bones of the hand, Proxim... ORPHA:174
Ectrodactyly-Polydactyly Syndrome
Finger syndactyly, Camptodactyly of finger, Postaxial hand polydactyly, Symphalangism affecting t... ORPHA:1892
Right Atrial Isomerism
Right atrial isomerism, Ventricular septal defect, Dextrocardia, Aortopulmonary collateral arteri... OMIM:208530
Carpenter Syndrome 1
External genital hypoplasia, Duplication of the proximal phalanx of the hallux, High palate, Atri... OMIM:201000
Congenital Heart Defects, Multiple Types, 7
Absence of the pulmonary valve, Aortopulmonary collateral arteries, Right aortic arch, Pulmonic s... OMIM:618780
Grange Syndrome
Syndactyly, Ventricular septal defect, Patent ductus arteriosus, Arterial stenosis, Short palm ORPHA:79094
Distal Monosomy 7Q36
Hypoplasia of penis, Cryptorchidism, Non-midline cleft lip, Cleft palate, Symphalangism affecting... ORPHA:1636
Ankyloblepharon Filiforme Adnatum And Cleft Palate
Cleft palate, Cleft upper lip OMIM:106250
Char Syndrome
Toe syndactyly, Mesoaxial foot polydactyly, Mesoaxial hand polydactyly, Ventricular septal defect... ORPHA:46627
Hypertelorism, Microtia, Facial Clefting Syndrome
Cleft upper lip, 2-3 toe syndactyly, Cleft palate, Abnormal heart morphology, Small thenar eminen... OMIM:239800
Spondylospinal Thoracic Dysostosis
Arthrogryposis multiplex congenita, Pulmonary hypoplasia OMIM:601809
Neurooculocardiogenitourinary Syndrome
Ventricular septal defect, Cardiomegaly, Bilateral cryptorchidism, Patent foramen ovale, Patent d... OMIM:618652
Solitary Bone Cyst
Abnormal tibia morphology, Abnormal spinal cord morphology, Abnormal pubic bone morphology, Proxi... ORPHA:83468
Holt-Oram Syndrome
Finger syndactyly, Atrial septal defect, Ventricular septal defect, Down-sloping shoulders, Absen... ORPHA:392
1Q41Q42 Microdeletion Syndrome
Holoprosencephaly, Pulmonary hypoplasia, Congenital diaphragmatic hernia ORPHA:250999
3C Syndrome
Hypoplasia of penis, High, narrow palate, Orofacial cleft, Abnormal tricuspid valve morphology, A... ORPHA:7
Spondylometaphyseal Dysplasia, A4 Type
Short palm, Flared, irregular rib ends, Micromelia, Coxa vara ORPHA:168555
Orofaciodigital Syndrome Ix
Toe syndactyly, Median cleft lip, Accessory oral frenulum, Abnormality of the dentition, Cleft pa... OMIM:258865
Heart-Hand Syndrome, Slovenian Type
Syndactyly, Dilated cardiomyopathy, Aplasia of the middle phalanx of the hand, Clinodactyly, Brac... OMIM:610140
Ectodermal Dysplasia, Ectrodactyly, And Macular Dystrophy Syndrome
2-4 finger syndactyly, Selective tooth agenesis, 1-4 finger syndactyly, Split hand, 2-3 finger sy... OMIM:225280
Keratoconus Posticus Circumscriptus
Limited elbow extension and supination, Cleft upper lip, Cleft palate, Clinodactyly of the 5th fi... OMIM:244600
Lethal Congenital Contracture Syndrome 1
Skeletal muscle atrophy, Arthrogryposis multiplex congenita, Pulmonary hypoplasia, Hypoplasia of ... OMIM:253310
Spondylocostal Dysostosis 4, Autosomal Recessive
Missing ribs, Pectus excavatum, Myelomeningocele, Short thorax, Rib fusion, Hydrocephalus, Bell-s... OMIM:613686
Maternal Phenylketonuria
Ventricular septal defect, Bifid distal phalanx of the thumb, Esophageal atresia, Double outlet r... ORPHA:2209
Wahab Syndrome
Syndactyly, Short metacarpal, Short thumb, Short foot, Short palm, Clinodactyly, Camptodactyly, A... OMIM:615170
Bardet-Biedl Syndrome 16
Recurrent respiratory infections, External genital hypoplasia, Hypogonadism, Polydactyly, Bronchi... OMIM:615993
Heterotaxy, Visceral, 12, Autosomal
Dextrotransposition of the great arteries, Pulmonary artery atresia, Atrial septal defect, Patent... OMIM:619702
Pierpont Syndrome
Cryptorchidism, Short toe, Broad palm, Micropenis, Short foot, Broad philtrum, Deep palmar crease... OMIM:602342
Syndactyly Type 5
Camptodactyly of finger, 2-3 toe syndactyly, Ulnar deviation of finger, Metacarpal synostosis, Cl... ORPHA:93406
Isolated Dandy-Walker Malformation
Encephalocele, Dandy-Walker malformation, Tetralogy of Fallot, Cleft palate ORPHA:217
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria
Short humerus, Recurrent respiratory infections, Short femur, Hypospadias, Patent ductus arterios... ORPHA:17
Vacterl/Vater Association
Bifid scrotum, Finger syndactyly, Occipital encephalocele, Hypoplasia of penis, Hypospadias, Prea... ORPHA:887
Rhizomelic Syndrome, Urbach Type
Brachydactyly, Rhizomelia, Abnormality of the humerus, Preaxial hand polydactyly, Abnormality of ... ORPHA:3098
Juberg-Hayward Syndrome
Aplasia/Hypoplasia of the thumb, Cleft upper lip, Abnormal toe morphology, Abnormal carpal morpho... OMIM:216100
Orofacial Cleft 5
Cleft palate, Cleft upper lip OMIM:608874
Orofacial Cleft 6, Susceptibility To
Cleft palate, Cleft upper lip OMIM:608864
Orofacial Cleft 10
Unilateral cleft palate, Unilateral cleft lip OMIM:613705
Orofacial Cleft 1
Cleft palate, Cleft upper lip OMIM:119530
Congenital Heart Defects, Multiple Types, 9
Mitral atresia, Aortopulmonary collateral arteries, Arteria lusoria, Double outlet right ventricl... OMIM:620294
Microcephaly-Cardiac Defect-Lung Malsegmentation Syndrome
Ventricular septal defect, Bilateral single transverse palmar creases, High, narrow palate, Abnor... ORPHA:2516
Splenogonadal Fusion-Limb Defects-Micrognathia Syndrome
Aplasia/Hypoplasia of the lungs, Inguinal hernia, Abnormal lung lobation, Congenital diaphragmati... ORPHA:2063
Brachydactyly, Coloboma, And Anterior Segment Dysgenesis
Microphthalmia, Syndactyly, Clinodactyly, Brachydactyly OMIM:610023
Neu-Laxova Syndrome 1
Micromelia, Swollen lip, Calcaneovalgus deformity, Patent foramen ovale, Dandy-Walker malformatio... OMIM:256520
Spondyloepimetaphyseal Dysplasia, Irapa Type
Short metacarpal, Micromelia, Abnormal carpal morphology, Short metatarsal, Coxa vara, Broad palm... ORPHA:93351
Fetal Minoxidil Syndrome
Clinodactyly of the 5th finger, Cryptorchidism, Umbilical hernia, Ventricular septal defect ORPHA:1918
Oculomaxillofacial Dysostosis
Brachydactyly, Median cleft lip, Camptodactyly of finger, Abnormality of the dentition, Abnormali... ORPHA:1794
Primary Pulmonary Hypoplasia
Recurrent respiratory infections, Dextrocardia, Secundum atrial septal defect, Pneumothorax, Clef... ORPHA:2257
Jansen-De Vries Syndrome
Ventricular septal defect, Central diaphragmatic hernia, Bicuspid aortic valve OMIM:617450
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate
Ventricular septal defect, Selective tooth agenesis, Hypospadias, Conical tooth, Cleft upper lip,... OMIM:106260
Abnormal Origin Of Right Or Left Pulmonary Artery From The Aorta
Recurrent respiratory infections, Ventricular septal defect, Patent ductus arteriosus, Arteria lu... ORPHA:99050
Intellectual Developmental Disorder, Autosomal Recessive 79
Thin upper lip vermilion, Ventricular septal defect, Short hallux, Long fingers, Clinodactyly of ... OMIM:620393
Aortic Arch Interruption, Facial Palsy, And Retinal Coloboma
Interrupted aortic arch, Coarctation of aorta OMIM:107550
Noonan Syndrome-Like Disorder With Loose Anagen Hair
Carious teeth, Cryptorchidism, Deep philtrum, Abnormality of the elbow, Thick lower lip vermilion... ORPHA:2701
Microphthalmia, Isolated 1
Microphthalmia, Anophthalmia OMIM:251600
Retinitis Pigmentosa 89
Esophageal varix, Bicuspid aortic valve, Postaxial polydactyly OMIM:618955
Craniodiaphyseal Dysplasia
Abnormal rib morphology, Diaphyseal thickening ORPHA:1513
Chromosome 15Q14 Deletion Syndrome
Tented upper lip vermilion, Ventricular septal defect, Cleft lip, Cleft palate, Short philtrum, E... OMIM:616898
Holoprosencephaly-Caudal Dysgenesis Syndrome
Abnormal morphology of the radius, Median cleft lip, Abnormal cerebral vascular morphology, Radia... ORPHA:2165
Suleiman-El-Hattab Syndrome
Thin upper lip vermilion, Recurrent respiratory infections, Ventricular septal defect, Single tra... OMIM:618950
Li-Ghorbani-Weisz-Hubshman Syndrome
Atrial septal defect, Ventricular septal defect, Overlapping toe, Patent ductus arteriosus, Downt... OMIM:618974
Dandy-Walker Malformation With Postaxial Polydactyly
Dilated fourth ventricle, Vascular dilatation, Patent ductus arteriosus, Postaxial hand polydacty... OMIM:220220
Severe Congenital Nemaline Myopathy
Skeletal muscle atrophy, Facial palsy, Increased connective tissue, Flexion contracture, Facial d... ORPHA:171430
Coffin-Siris Syndrome 3
Inguinal hernia, Central diaphragmatic hernia, Abnormal heart morphology, Macroglossia, Umbilical... OMIM:614608
Al-Gazali-Bakalinova Syndrome
Epiphyseal dysplasia, Tapered finger, Pectus excavatum, Lymphedema, Flattened epiphysis, Genu val... OMIM:607131
Non-Syndromic Bilambdoid And Sagittal Craniosynostosis
Patent ductus arteriosus, Hydrocephalus, Short philtrum, Abnormal oral cavity morphology, Clinoda... ORPHA:1516
Cleft-Limb-Heart Malformation Syndrome
Syndactyly, Truncus arteriosus OMIM:215850
Lymphangiectasia, Intestinal
Stillbirth, Prominent floating ribs, Edema, Pedal edema OMIM:152800
Intellectual Developmental Disorder, X-Linked 99, Syndromic, Female-Restricted
Recurrent respiratory infections, Ventriculomegaly, Postaxial polydactyly, Tapered finger, Abnorm... OMIM:300968
Fanconi Anemia, Complementation Group B
Ventricular septal defect, Optic disc hypoplasia, Hypergonadotropic hypogonadism, Absent thumb, E... OMIM:300514
Joubert Syndrome 17
Preaxial polydactyly, Postaxial polydactyly, 3-4 finger syndactyly OMIM:614615
Fetal Akinesia Deformation Sequence 4
11 pairs of ribs, Rocker bottom foot, Polyhydramnios, Prenatal death, Camptodactyly, Neonatal death OMIM:618393
Constricting Bands, Congenital
Encephalocele, Syndactyly, Cleft upper lip, Abnormal lung lobation, Cleft palate, Hand polydactyl... OMIM:217100
X-Linked Microcephaly-Growth Retardation-Prognathism-Cryptorchidism Syndrome
Branchial cyst, Finger syndactyly, Thin upper lip vermilion, Dental crowding, Single transverse p... ORPHA:435938
Ulnar Hemimelia
Glenoid fossa hypoplasia, Limited elbow movement, Abnormal calcification of the carpal bones, Apl... ORPHA:93320
Craniofacial Dysmorphism, Skeletal Anomalies, And Impaired Intellectual Development Syndrome 1
Hyperextensibility of the finger joints, Overlapping toe, Polyhydramnios, Pectus excavatum, Long ... OMIM:213980
Severe Intellectual Disability-Epilepsy-Anal Anomalies-Distal Phalangeal Hypoplasia
Ventricular septal defect, Aplasia/Hypoplasia of the distal phalanges of the toes, Aplasia/Hypopl... ORPHA:94066
Congenital Disorder Of Glycosylation, Type Iil
Ventricular septal defect, Postaxial polydactyly, Patent ductus arteriosus, Hydrocephalus, Esopha... OMIM:614576
Coenzyme Q10 Deficiency, Primary, 8
Left ventricular hypertrophy, Flexion contracture, Pulmonary hypoplasia OMIM:616733
Congenital Heart Defects, Multiple Types, 4
Ventricular septal defect, Coarctation of aorta, Hypoplastic left heart, Aortic valve stenosis, A... OMIM:615779
Trisomy 4P
Smooth philtrum, Hypospadias, Camptodactyly of finger, Abnormality of the dentition, Carious teet... ORPHA:1738
Short-Rib Thoracic Dysplasia 4 With Or Without Polydactyly
Short long bone, Polydactyly, Narrow chest, Brachydactyly OMIM:613819
Meckel Syndrome, Type 3
Occipital encephalocele, Postaxial hand polydactyly, Hydrocephalus, Cleft palate, Postaxial foot ... OMIM:607361
Brachydactyly, Type B1
Type B brachydactyly, Syndactyly, Ventricular septal defect, Aplasia/Hypoplasia of the distal pha... OMIM:113000
Microphthalmia, Isolated, With Cataract 1
Microphthalmia OMIM:156850
Heterotaxy, Visceral, 8, Autosomal
Atrial situs inversus, Atrial situs ambiguous, Ventricular septal defect, Dextrocardia, Aortopulm... OMIM:617205
Maternal Hyperthermia-Induced Birth Defects
Hypoplasia of penis, Cleft palate, Clinodactyly of the 5th finger, Aplasia/Hypoplasia affecting t... ORPHA:2216
Congenital Laryngomalacia
Non-midline cleft lip, Cleft palate ORPHA:2373
Acropectorovertebral Dysplasia
Finger syndactyly, Camptodactyly of finger, Tarsal synostosis, Spina bifida, High, narrow palate,... ORPHA:957
Down Syndrome
Single transverse palmar crease, Hypoplastic iliac wing, Atrial septal defect, Short palm, Atriov... OMIM:190685
Filippi Syndrome
Ambiguous genitalia, Ventricular septal defect, Single transverse palmar crease, 2-4 toe syndacty... OMIM:272440
8P23.1 Microdeletion Syndrome
Broad hallux phalanx, Hypospadias, Proximal placement of thumb, Tapered finger, Cryptorchidism, P... ORPHA:251071
Deafness, Congenital Heart Defects, And Posterior Embryotoxon
Tetralogy of Fallot, Ventricular septal defect, Peripheral pulmonary artery stenosis OMIM:617992
Heterotaxy, Visceral, 6, Autosomal
Dextrocardia, Situs inversus totalis, Double outlet right ventricle, Right aortic arch, Hypoplast... OMIM:614779
Acrofacial Dysostosis 1, Nager Type
Aplasia/Hypoplasia of the thumb, Aqueductal stenosis, Foot oligodactyly, Triphalangeal thumb, Bro... OMIM:154400
Hyperlysinemia
Abnormal CSF ornithine concentration, Recurrent pneumonia, Decreased CSF arginine concentration, ... ORPHA:2203
Joubert Syndrome 40
Optic nerve hypoplasia, Postaxial polydactyly OMIM:619582
Metatropic Dysplasia
Abnormal metaphyseal vascular invasion, Long coccyx, Narrow greater sciatic notch, Halberd-shaped... OMIM:156530
Metatropic Dysplasia
Camptodactyly of finger, Micromelia, Hydrocephalus, Abnormal rib morphology, Long thorax, Halberd... ORPHA:2635
Tarp Syndrome
Finger syndactyly, Single transverse palmar crease, Rocker bottom foot, Postaxial polydactyly, Cr... ORPHA:2886
Orofaciodigital Syndrome I
Lobulated tongue, High palate, Syndactyly, Hamartoma of tongue, Cleft upper lip, Supernumerary to... OMIM:311200
Brain Malformation-Congenital Heart Disease-Postaxial Polydactyly Syndrome
Ventricular septal defect, Postaxial hand polydactyly, Pulmonary artery stenosis, Everted lower l... ORPHA:75389
Joubert Syndrome 37
Postaxial polydactyly, Cryptorchidism, High palate, Microphthalmia, Micropenis, Decreased testicu... OMIM:619185
Microphthalmia, Isolated, With Coloboma 10
Microphthalmia, Anophthalmia OMIM:616428
16P13.11 Microdeletion Syndrome
Atrial septal defect, Thin upper lip vermilion, Ventriculomegaly, Ventricular septal defect, Camp... ORPHA:261236
Bardet-Biedl Syndrome 2
Bicuspid aortic valve, External genital hypoplasia, Postaxial hand polydactyly, Dilated cardiomyo... OMIM:615981
Multicentric Carpotarsal Osteolysis Syndrome
Congenital diaphragmatic hernia OMIM:166300
Weyers Acrofacial Dysostosis
Conical tooth, Postaxial hand polydactyly, Postaxial foot polydactyly, Solitary median maxillary ... OMIM:193530
Chromosome 1P36 Deletion Syndrome, Proximal
Bicuspid aortic valve, Ventricular septal defect, Complete atrioventricular canal defect, Cleft l... OMIM:619343
Mckusick-Kaufman Syndrome
Finger syndactyly, Ventricular septal defect, Tarsal synostosis, Aganglionic megacolon, Cryptorch... ORPHA:2473
Schneckenbecken Dysplasia
Hypoplastic scapulae, Anterior rib cupping, Dumbbell-shaped long bone, Thoracic hypoplasia, Later... OMIM:269250
Partial Atrioventricular Septal Defect
Recurrent respiratory infections, Bicuspid aortic valve, Transient ischemic attack, Coronary sinu... ORPHA:1330
Pulmonary Hypoplasia, Primary
Pulmonary hypoplasia OMIM:265430
Coffin-Siris Syndrome 4
Thin upper lip vermilion, Everted upper lip vermilion, Ventricular septal defect, Mitral atresia,... OMIM:614609
Sandestig-Stefanova Syndrome
Rocker bottom foot, Muscular ventricular septal defect, Orofacial cleft, Perimembranous ventricul... OMIM:618804
Hemifacial Microsomia With Radial Defects
Short mandibular rami, Non-midline cleft lip, Orofacial cleft, Cleft palate, Triphalangeal thumb,... OMIM:141400
Lethal Recessive Chondrodysplasia
Micromelia, Polyhydramnios, Edema, Short long bone, Narrow chest, Flared elbow metaphyses, Limb u... ORPHA:1423
Trisomy 8Q
Hypoplasia of penis, Camptodactyly of finger, Cryptorchidism, Non-midline cleft lip, Myelomeningo... ORPHA:1752
15Q11Q13 Microduplication Syndrome
Clinodactyly of the 5th finger, Finger syndactyly ORPHA:238446
Intellectual Developmental Disorder, Autosomal Recessive 13
Cleft upper lip, Downturned corners of mouth, Short philtrum, Slender finger, Smooth philtrum OMIM:613192
Diaphanospondylodysostosis
Missing ribs, Myelomeningocele, Short thorax, Narrow pelvis bone, Enlarged thorax ORPHA:66637
Thoracolaryngopelvic Dysplasia
Metaphyseal widening, Irregular chondrocostal junctions, Bell-shaped thorax, Narrow pelvis bone, ... OMIM:187760
Aphalangy-Syndactyly-Microcephaly Syndrome
Toe syndactyly, Camptodactyly of finger, Aplasia/Hypoplasia of the distal phalanges of the toes, ... ORPHA:1113
Emanuel Syndrome
Recurrent respiratory infections, Torticollis, Inguinal hernia, Truncus arteriosus, Ventricular s... OMIM:609029
Basel-Vanagaite-Smirin-Yosef Syndrome
Tented upper lip vermilion, Single transverse palmar crease, High, narrow palate, Short philtrum,... ORPHA:464738
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly
Ambiguous genitalia, Median cleft lip, Ventricular septal defect, Intestinal malrotation, Hamarto... OMIM:263520
Walker-Warburg Syndrome
Ventriculomegaly, Anophthalmia, Hypoplasia of penis, Cryptorchidism, Hydrocephalus, Submucous cle... ORPHA:899
Inverted Duplicated Chromosome 15 Syndrome
Ventricular septal defect, Precocious puberty, Cryptorchidism, 2-3 toe syndactyly, Gonadal dysgen... ORPHA:3306
Short-Rib Thoracic Dysplasia 12
Bowing of the legs, Lobulated tongue, Holoprosencephaly, Short palm, Patent foramen ovale, Hamart... OMIM:269860
Holoprosencephaly 13, X-Linked
Septo-optic dysplasia, Median cleft lip, Ventricular septal defect, Optic nerve hypoplasia, Aloba... OMIM:301043
Zaki Syndrome
Dilated fourth ventricle, Toe syndactyly, Long fingers, Patent ductus arteriosus, Wide mouth, Med... OMIM:619648
Microcephaly And Chorioretinopathy, Autosomal Recessive, 3
Microphthalmia OMIM:616335
Robin Sequence-Oligodactyly Syndrome
Abnormal morphology of ulna, Abnormality of the dentition, Hand oligodactyly, Cleft palate, Gloss... ORPHA:3104
Laurin-Sandrow Syndrome
Aplasia/Hypoplasia of the thumb, Finger syndactyly, Toe syndactyly, Tarsal synostosis, Absent rad... ORPHA:2378
Global Developmental Delay With Or Without Impaired Intellectual Development
Thin upper lip vermilion, Ventricular septal defect, Hypospadias, Patent ductus arteriosus, Oligo... OMIM:618330
Distal Deletion 15Q
Bicuspid aortic valve, Single transverse palmar crease, 2-3 toe cutaneous syndactyly, Abnormal ao... ORPHA:1596
Vacterl Association, X-Linked, With Or Without Hydrocephalus
Short humerus, Dextrocardia, Proximal placement of thumb, Absent radius, Esophageal atresia, Hydr... OMIM:314390
Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum
Bicuspid aortic valve, Ventricular septal defect, Premature thelarche, Abnormal hand morphology, ... ORPHA:371428
Zechi-Ceide Syndrome
Sandal gap, Cleft upper lip, Short metatarsal, Cleft palate, Oligodontia, Short distal phalanx of... OMIM:612916
Muscular Hypertrophy-Hepatomegaly-Polyhydramnios Syndrome
Occipital encephalocele, Hydrocephalus, Orofacial cleft, Microphthalmia, Ventriculomegaly ORPHA:324416
Emanuel Syndrome
Congenital hip dislocation, Dental crowding, High palate, Atrial septal defect, Micropenis, Bifid... ORPHA:96170
Moebius Syndrome
Decreased testicular size, Syndactyly, Brachydactyly, Hypogonadotropic hypogonadism, Abnormality ... OMIM:157900
Cardiac, Facial, And Digital Anomalies With Developmental Delay
Mitral atresia, Patent ductus arteriosus, Double outlet right ventricle, Supravalvar pulmonary st... OMIM:618164
Frank-Ter Haar Syndrome
Abnormally large globe, Secundum atrial septal defect, High palate, Short palm, Atrial septal def... OMIM:249420
Xp22.13P22.2 Duplication Syndrome
Umbilical hernia, Recurrent upper respiratory tract infections, Congenital diaphragmatic hernia ORPHA:284180
Pelvis-Shoulder Dysplasia
Aplasia/Hypoplasia of the fibula, Prominent protruding coccyx, Dislocated radial head, Syndactyly... ORPHA:2839
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type
Short femur, Fractured radius, Ventricular septal defect, Hypospadias, Decreased fibular diameter... OMIM:616897
Ventricular Septal Defect 1
Ventricular septal defect, Pulmonic stenosis, Atrial septal defect, Atrioventricular canal defect... OMIM:614429
Testicular Anomalies With Or Without Congenital Heart Disease
Corpus cavernosum hypoplasia, Cryptorchidism, Testicular dysgenesis, Perineal hypospadias, Microp... OMIM:615542
Holoprosencephaly 9
Anophthalmia, Optic nerve hypoplasia, Cleft upper lip, Cryptorchidism, Postaxial hand polydactyly... OMIM:610829
Skraban-Deardorff Syndrome
Ventricular septal defect, Absent cupid's bow, Cleft palate, Right aortic arch, Widely spaced tee... OMIM:617616
Intellectual Developmental Disorder, Autosomal Dominant 21
Ventriculomegaly, Single transverse palmar crease, Cryptorchidism, Patent ductus arteriosus, Clef... OMIM:615502
Hydrocephalus, Congenital, 1
Hydrocephalus, Ventriculomegaly OMIM:236600
Tetraamelia Syndrome 2
Ventricular septal defect, Bilateral cleft lip, Hypoplastic pulmonary veins, Cleft palate, Glosso... OMIM:618021
Bardet-Biedl Syndrome 9
Syndactyly, Postaxial polydactyly, Postaxial hand polydactyly, Postaxial foot polydactyly, Polyda... OMIM:615986
Heart Defects, Congenital, And Other Congenital Anomalies
Double outlet left ventricle, Ventricular septal defect, Intestinal malrotation, Colon perforatio... OMIM:600001
Hydrolethalus Syndrome 1
Median cleft lip, Ventricular septal defect, Hypospadias, Bifid uterus, Preaxial hand polydactyly... OMIM:236680
Alg3-Cdg
Metaphyseal chondrodysplasia, Abnormal limb bone morphology, Coarctation of the descending aortic... ORPHA:79321
Focal Facial Dermal Dysplasia Type Iv
Intracranial hemorrhage, Hydrocephalus, Cleft palate, Cleft upper lip ORPHA:398189
Temtamy Syndrome
Dental crowding, Hip dislocation, Hypoplasia of teeth, Aortic aneurysm, Short 2nd toe, Talipes eq... OMIM:218340
Renal Hypodysplasia/Aplasia 4
Pulmonary hypoplasia OMIM:619887
Chromosome 17Q12 Duplication Syndrome
Cleft soft palate, Esophageal atresia, Atrial septal defect, Microphthalmia, Broad thumb, Smooth ... OMIM:614526
Congenital Disorder Of Glycosylation, Type Iig
Thoracic scoliosis, Rhizomelia, Single transverse palmar crease, Squared iliac bones, Small hand,... OMIM:611209
Spondylomegaepiphyseal Dysplasia With Upper Limb Mesomelia, Punctate Calcifications, And Deafness
Broad toe, Enlarged metacarpal epiphyses, Cupped ribs, Enlarged epiphyses of the phalanges of the... OMIM:609616
Hydrops, Lactic Acidosis, And Sideroblastic Anemia
Patent ductus arteriosus, Overriding aorta, Ventricular septal defect OMIM:617021
Microphthalmia-Microtia-Fetal Akinesia Syndrome
Hypoplasia of penis, Camptodactyly of finger, Patent ductus arteriosus, Symphalangism affecting t... ORPHA:2547
Intellectual Developmental Disorder, X-Linked, Syndromic, Snijders Blok Type
Cleft upper lip, Precocious puberty, Cleft palate, Dysplastic pulmonary valve, Bifid uvula, Ventr... OMIM:300958
Stuve-Wiedemann Syndrome 2
Bowing of the long bones, Death in adolescence, Short long bone, Stillbirth, Camptodactyly, Neona... OMIM:619751
Renal Hypodysplasia/Aplasia 2
Pulmonary hypoplasia OMIM:615721
Ventricular Septal Defect 3
Atrial septal defect, Pulmonary artery stenosis, Patent ductus arteriosus, Ventricular septal defect OMIM:614432
Solitary Median Maxillary Central Incisor
Anophthalmia, Cleft upper lip, Prominent median palatal raphe, Holoprosencephaly, Torus palatinus... OMIM:147250
Holoprosencephaly 14
Ventriculomegaly, Median cleft lip, Ventricular septal defect, Alobar holoprosencephaly, Aqueduct... OMIM:619895
Li-Campeau Syndrome
Ventricular septal defect, Single transverse palmar crease, Cryptorchidism, Patent ductus arterio... OMIM:619189
Contractures-Developmental Delay-Pierre Robin Syndrome
Arachnodactyly, Overlapping toe, Hypospadias, Metatarsus adductus, Short thumb, High, narrow pala... ORPHA:436003
Atrial Septal Defect 7 With Or Without Atrioventricular Conduction Defects
Ventricular septal defect, Secundum atrial septal defect, Subvalvular aortic stenosis, Left ventr... OMIM:108900
Microcephaly-Corpus Callosum Hypoplasia-Intellectual Disability-Facial Dysmorphism Syndrome
Broad hallux, Optic nerve hypoplasia, Postaxial polydactyly, Hydrocephalus, Hypoplastic aortic ar... ORPHA:457284
Early-Onset Epileptic Encephalopathy-Cortical Blindness-Intellectual Disability-Facial Dysmorphism Syndrome
Anophthalmia, Abnormal spaced incisors, Everted lower lip vermilion, Thick vermilion border, Shor... ORPHA:411986
Congenital Rubella Syndrome
Ventricular septal defect, Patent ductus arteriosus, Aplasia/Hypoplasia of the iris, Atrial septa... ORPHA:290
Craniosynostosis-Hydrocephalus-Arnold-Chiari Malformation Type I-Radioulnar Synostosis Syndrome
Bowing of the long bones, Toe syndactyly, Hypospadias, Cryptorchidism, Patent ductus arteriosus, ... ORPHA:171839
15Q24 Microdeletion Syndrome
Myelomeningocele, Hernia, Congenital diaphragmatic hernia, Abnormal heart morphology ORPHA:94065
Spondyloepimetaphyseal Dysplasia, Irapa Type
Metaphyseal dysplasia, Short metacarpal, Capitate-hamate fusion, Enlargement of the costochondral... OMIM:271650
Cornelia De Lange Syndrome 4 With Or Without Midline Brain Defects
Syndactyly, Thin upper lip vermilion, Ventriculomegaly, Single transverse palmar crease, Intestin... OMIM:614701
Orofaciodigital Syndrome Xiv
Occipital encephalocele, Epispadias, Preaxial polydactyly, Aplasia of the epiglottis, Anteriorly ... OMIM:615948
Thin Ribs-Tubular Bones-Dysmorphism Syndrome
Slender long bone, Abnormal pelvic girdle bone morphology, Abnormal rib morphology ORPHA:1506
Syndactyly, Mesoaxial Synostotic, With Phalangeal Reduction
Aplasia/Hypoplasia of the thumb, Single transverse palmar crease, Aplasia/Hypoplasia of the middl... OMIM:609432
Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Impaired Intellectual Development, And Ear Anomalies Syndrome
Palmoplantar hyperkeratosis, Short philtrum, Widely spaced teeth, Clinodactyly of the 5th finger,... OMIM:280000
Alopecia-Epilepsy-Pyorrhea-Intellectual Disability Syndrome
Hydrocephalus, Periodontitis, Gingivitis, Abnormality of the dentition ORPHA:1008
Microphthalmia, Isolated, With Coloboma 6
Hypoplasia of the fovea, Bilateral microphthalmos, Optic disc hypoplasia OMIM:613703
Opitz-Kaveggia Syndrome
Dental crowding, Single transverse palmar crease, Anteriorly placed anus, Prominent fingertip pad... OMIM:305450
Acropectorovertebral Dysplasia
Finger syndactyly, Toe syndactyly, Bifid distal phalanx of the thumb, Capitate-hamate fusion, Sho... OMIM:102510
Ossification Of The Posterior Longitudinal Ligament Of Spine
Spinal cord compression, Myelopathy OMIM:602475
Omodysplasia 2
Short humerus, Tented upper lip vermilion, Hypospadias, Bilateral cleft lip, Cryptorchidism, Uter... OMIM:164745
Lambotte Syndrome
Preaxial foot polydactyly, Semilobar holoprosencephaly, Ventricular septal defect, Narrow mouth OMIM:245552
Edinburgh Malformation Syndrome
Long fingers, Hydrocephalus, Ulnar deviation of finger, Downturned corners of mouth, Thin vermili... ORPHA:1895
Achondrogenesis Type 1B
Micromelia, Polyhydramnios, Short thorax, Abnormal rib morphology, Hydrops fetalis, Short foot, N... ORPHA:93298
Moyamoya Disease 4 With Short Stature, Hypergonadotropic Hypogonadism, And Facial Dysmorphism
Hypergonadotropic hypogonadism, Cerebral hemorrhage, Abnormal hand morphology, Moyamoya phenomeno... OMIM:300845
Endosteal Hyperostosis, Worth Type
Abnormal rib morphology, Diaphyseal thickening, Clavicular sclerosis ORPHA:2790
Achondrogenesis, Type Ii
Barrel-shaped chest, Broad long bones, Edema, Short tubular bones of the hand, Polyhydramnios, Hy... OMIM:200610
Mosaic Trisomy 9
Hypoplasia of penis, Micromelia, Abnormal lung lobation, Finger clinodactyly, High palate, Abnorm... ORPHA:99776
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 1
Thin upper lip vermilion, Sandal gap, Dental crowding, Short toe, Pierre-Robin sequence, Anterior... OMIM:617877
Holoprosencephaly-Postaxial Polydactyly Syndrome
Encephalocele, Hypoplasia of penis, Hypospadias, Intestinal malrotation, Cryptorchidism, Postaxia... ORPHA:2166
Cranioectodermal Dysplasia 3
Rhizomelia, Sandal gap, Postaxial polydactyly, 2-4 toe syndactyly, 2-3 toe syndactyly, Hypoplasia... OMIM:614099
Mesoaxial Synostotic Syndactyly With Phalangeal Reduction
Finger syndactyly, Toe syndactyly, Short hallux, Aplasia/Hypoplasia of the middle phalanges of th... ORPHA:157801
Brachydactyly-Preaxial Hallux Varus Syndrome
Short metacarpal, Preaxial hand polydactyly, Radial club hand, Short metatarsal, Broad thumb, Bra... ORPHA:1278
3Mc Syndrome 3
Bifid scrotum, Cleft upper lip, Cryptorchidism, Preaxial polydactyly, Cleft palate, Micropenis, R... OMIM:248340
Curry-Jones Syndrome
Finger syndactyly, Toe syndactyly, Intestinal malrotation, Abnormality of thumb phalanx, Preaxial... ORPHA:1553
Split-Hand/Foot Malformation 4
Syndactyly, Aplasia/Hypoplasia of the phalanges of the hand, Split hand, Aplasia/Hypoplasia of th... OMIM:605289
Distal Deletion 10P
Hypoplasia of penis, Cryptorchidism, Non-midline cleft lip, Abnormality of the elbow, Cleft palat... ORPHA:1580
Stromme Syndrome
Jejunal atresia, Optic nerve hypoplasia, Intestinal malrotation, Hydrocephalus, Preaxial polydact... OMIM:243605
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly
Ventricular septal defect, Postaxial hand polydactyly, Hydrocephalus, Cone-shaped epiphyses of th... OMIM:615630
Aicardi Syndrome
Proximal placement of thumb, Missing ribs, Spina bifida, Rib fusion, Supernumerary ribs, Bifid ribs OMIM:304050
Cone-Rod Dystrophy 16
Postaxial polydactyly OMIM:614500
Braddock-Carey Syndrome 2
Pierre-Robin sequence, Cleft palate, Wide mouth, Microphthalmia, Clinodactyly OMIM:619981
Chromosome 8Q12.1-Q21.2 Deletion Syndrome
Hydrocephalus OMIM:600257
Thanatophoric Dysplasia Type 2
Encephalocele, Micromelia, Patent ductus arteriosus, Hydrocephalus, Aplasia/Hypoplasia of the lun... ORPHA:93274
Matthew-Wood Syndrome
Abnormal lung morphology, Pulmonary hypoplasia, Congenital diaphragmatic hernia ORPHA:2470
Aminopterin Syndrome Sine Aminopterin
Syndactyly, Rudimentary postaxial polydactyly of hands, Arachnodactyly, Short thumb, Cryptorchidi... OMIM:600325
Bardet-Biedl Syndrome 3
External genital hypoplasia, Postaxial polydactyly, Brachydactyly OMIM:600151
Microbrachycephaly-Ptosis-Cleft Lip Syndrome
Brachydactyly, Abnormal thumb morphology, Abnormal metacarpal morphology, Abnormal finger morphol... ORPHA:2511
Hypogonadotropic Hypogonadism 2 With Or Without Anosmia
Hypogonadotropic hypogonadism, Cleft upper lip, Cryptorchidism, Cleft palate, Micropenis, Tooth a... OMIM:147950
Aarskog-Scott Syndrome
Hyperextensibility of the finger joints, Syndactyly, Single transverse palmar crease, Cleft upper... OMIM:305400
Thoracic Outlet Syndrome
Abnormal rib morphology, Edema ORPHA:97330
Spondyloepimetaphyseal Dysplasia, Borochowitz-Cormier-Daire Type
Dysplastic iliac wing, Metaphyseal spurs, Micromelia, Bowing of the legs, Pectus excavatum, Metap... OMIM:608728
Acrofrontofacionasal Dysostosis
Bifid scrotum, Hypospadias, Camptodactyly of finger, Micromelia, Non-midline cleft lip, Cleft pal... ORPHA:1784
Chromosome 6Q24-Q25 Deletion Syndrome
Atrial septal defect, Thin upper lip vermilion, Sandal gap, High, narrow palate, Patent ductus ar... OMIM:612863
Carpenter Syndrome 2
Single transverse palmar crease, Bilateral cryptorchidism, High, narrow palate, Preaxial polydact... OMIM:614976
Fibrochondrogenesis 2
Thoracic hypoplasia, Hypoplastic ilia, Cupped ribs, Metaphyseal widening, Hypoplastic pubic bone,... OMIM:614524
Basel-Vanagaite-Smirin-Yosef Syndrome
Clitoral hypertrophy, Tented upper lip vermilion, Ventricular septal defect, Single transverse pa... OMIM:616449
2Q31.1 Microdeletion Syndrome
Abnormal tibia morphology, Deep philtrum, Downturned corners of mouth, Short palm, Atrial septal ... ORPHA:251014
Silver-Russell Syndrome Due To An Imprinting Defect Of 11P15
Dental crowding, Abnormal external genitalia, Upper limb asymmetry, High palate, Polydactyly, Cli... ORPHA:231140
Joubert Syndrome 20
4-5 toe syndactyly, Postaxial polydactyly OMIM:614970
Pelger-Huet Anomaly
Ventricular septal defect, Abnormality of the dentition, Upper limb undergrowth, Gingival overgro... OMIM:169400
Sprengel Deformity
Rib segmentation abnormalities, Sprengel anomaly, Spina bifida occulta, Shoulder muscle hypoplasia OMIM:184400
Cebalid Syndrome
Congenital diaphragmatic hernia OMIM:618774
Terminal Osseous Dysplasia
Syndactyly, Camptodactyly of finger, Accessory oral frenulum, Abnormal hand bone ossification, Sh... OMIM:300244
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type
Short palm, Rhizomelia, Metaphyseal chondrodysplasia, Abnormality of the calcaneus, Hydrocephalus... ORPHA:163966
Koolen-De Vries Syndrome
Bicuspid aortic valve, High palate, Widely spaced teeth, Atrial septal defect, Prominent fingerti... OMIM:610443
Fraser Syndrome 1
Aplasia/Hypoplasia of the thumb, Anophthalmia, Dental crowding, Cutaneous finger syndactyly, Micr... OMIM:219000
Polydactyly, Postaxial, With Progressive Myopia
Postaxial hand polydactyly OMIM:174310
Deafness, Onychodystrophy, Osteodystrophy, Impaired Intellectual Development, And Seizures Syndrome
Atrial septal defect, Thin upper lip vermilion, Ventriculomegaly, Ventricular septal defect, Pate... OMIM:220500
Ectodermal Dysplasia-Syndactyly Syndrome 2
Syndactyly, Thin upper lip vermilion, Cardiomegaly, Palmoplantar keratoderma, Enamel hypoplasia OMIM:613576
Microphthalmia With Hyperopia, Retinal Degeneration, Macrophakia, And Dental Anomalies
Microphthalmia, Abnormality of the dentition OMIM:251700
Cutis Laxa, Autosomal Recessive, Type Ia
Recurrent respiratory infections, Inguinal hernia, Congenital diaphragmatic hernia, Umbilical her... OMIM:219100
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia
Bifid scrotum, Hypoplastic pubic ramus, Proximal placement of thumb, Short metatarsal, Hand monod... OMIM:609945
Short-Rib Thoracic Dysplasia 15 With Polydactyly
Median cleft lip, Postaxial polydactyly, Accessory oral frenulum, Postaxial hand polydactyly, Sup... OMIM:617088
Megalencephaly, Autosomal Dominant
Hydrocephalus OMIM:155350
Intellectual Developmental Disorder With Speech Delay And Dysmorphic Facies
Exaggerated cupid's bow, Ventricular septal defect, Rocker bottom foot, Wide mouth, Delayed erupt... OMIM:618506
Diencephalic Syndrome
Large hands, Long penis, Everted lower lip vermilion, Hydrocephalus ORPHA:1672
Vater/Vacterl Association
Syndactyly, Occipital encephalocele, Ventricular septal defect, Hypospadias, Spina bifida, Absent... OMIM:192350
Stevenson-Carey Syndrome
Narrow mouth, Pierre-Robin sequence, Downturned corners of mouth, Hip dysplasia, Left superior ve... OMIM:611961
Halperin-Birk Syndrome
Inguinal hernia, Congenital diaphragmatic hernia, Flexion contracture, Perimembranous ventricular... OMIM:618651
Tibial Aplasia-Ectrodactyly Syndrome
Finger syndactyly, Short femur, Preaxial hand polydactyly, Postaxial hand polydactyly, Split hand... ORPHA:3329
Microcephaly-Microcornea Syndrome, Seemanova Type
Hypogonadism, Microphthalmia, High palate, Narrow mouth ORPHA:2528
Masa Syndrome
Hydrocephalus, Talipes equinovarus, Ventriculomegaly, Adducted thumb OMIM:303350
Aicardi Syndrome
Missing ribs, Small hand, Rib fusion, Hip dysplasia, Supernumerary ribs, Bifid ribs ORPHA:50
X-Linked Intellectual Disability, Nascimento Type
Recurrent respiratory infections, Overlapping toe, Ventricular septal defect, Hypospadias, Crypto... ORPHA:163956
Vacterl With Hydrocephalus
Anophthalmia, Spina bifida, Aqueductal stenosis, Esophageal atresia, Hydrocephalus, Hypoplasia of... ORPHA:3412
Mesomelic Limb Shortening And Bowing
Camptodactyly of finger, Bowing of the legs, Mesomelic arm shortening, Cleft palate, Mesomelic le... OMIM:249710
Preaxial Polydactyly-Colobomata-Intellectual Disability Syndrome
Preaxial polydactyly ORPHA:2921
Cousin Syndrome
Ambiguous genitalia, female, Prominent protruding coccyx, Ambiguous genitalia, male, Hypoplastic ... OMIM:260660
Hennekam Lymphangiectasia-Lymphedema Syndrome 2
Syndactyly, Irregular dentition, Pericardial lymphangiectasia, Narrow mouth, Pulmonary lymphangie... OMIM:616006
Bardet-Biedl Syndrome 6
Syndactyly, Hypospadias, External genital hypoplasia, Postaxial polydactyly, Vaginal atresia OMIM:605231
Peroxisome Biogenesis Disorder 8A (Zellweger)
Epiphyseal stippling, Glossoptosis, Ventricular septal defect OMIM:614876
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 4
Hallux valgus, Everted upper lip vermilion, Dilation of Virchow-Robin spaces, Sandal gap, Rocker ... OMIM:619951
Warburg Micro Syndrome 1
Enlarged sylvian cistern, Overlapping toe, External genital hypoplasia, Cryptorchidism, Thin verm... OMIM:600118
13Q12.3 Microdeletion Syndrome
Recurrent respiratory infections, Congenital diaphragmatic hernia, Camptodactyly ORPHA:412035
20Q13.33 Microdeletion Syndrome
Hallux valgus, Dilation of Virchow-Robin spaces, Hypospadias, Decreased scrotal rugation, Tapered... ORPHA:261311
Renal Tubular Dysgenesis
Tetralogy of Fallot, Pulmonary hypoplasia ORPHA:3033
Chromosome 2Q35 Duplication Syndrome
Distal symphalangism of hands, 3-4 finger syndactyly, 2-3 toe syndactyly, Cutaneous syndactyly OMIM:185900
Parietal Foramina 1
Encephalocele, Cleft palate, Cleft upper lip OMIM:168500
Martsolf Syndrome 1
Enlarged sylvian cistern, Osteopathia striata, High palate, Short philtrum, Finger joint hypermob... OMIM:212720
Omphalocele-Cleft Palate Syndrome, Lethal
Hydrocephalus, Bicornuate uterus, Bifid uvula, Cleft palate OMIM:258320
Liebenberg Syndrome
Metaphyseal widening, Elbow flexion contracture, Abnormal carpal morphology, 2-3 finger syndactyl... OMIM:186550
Terminal Osseous Dysplasia-Pigmentary Defects Syndrome
Syndactyly, Accessory oral frenulum, Osteolysis involving bones of the upper limbs, Osteolysis in... ORPHA:88630
Hypotonia, Infantile, With Psychomotor Retardation
Myopathy, Ventricular septal defect, Increased variability in muscle fiber diameter OMIM:616816
Chromosome 15Q25 Deletion Syndrome
Tented upper lip vermilion, Ventricular septal defect, Dextrocardia, Cleft upper lip, Long finger... OMIM:614294
Bartsocas-Papas Syndrome
Finger syndactyly, Toe syndactyly, Median cleft lip, Absent thumb, Aplasia/Hypoplasia of the dist... ORPHA:1234
Marden-Walker Syndrome
Arachnodactyly, Dextrocardia, Hypospadias, High, narrow palate, Narrow mouth, Pyloric stenosis, C... OMIM:248700
Axial Spondylometaphyseal Dysplasia
Thoracic scoliosis, Proximal femoral metaphyseal irregularity, Coxa vara, Deformed rib cage, Narr... ORPHA:168549
Timothy Syndrome
Thin upper lip vermilion, Ventricular septal defect, Pneumonia, Bronchitis, Cardiomegaly, Patent ... OMIM:601005
Trisomy 18
Holoprosencephaly, Atrial septal defect, Bilateral single transverse palmar creases, Spina bifida... ORPHA:3380
White Forelock With Malformations
Finger syndactyly, Abnormal rib morphology, Clinodactyly of the 5th finger, Sprengel anomaly, Spi... ORPHA:2475
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome
Finger syndactyly, Toe syndactyly, Hydrocephalus, Wide mouth, Hand polydactyly, Foot polydactyly,... ORPHA:60040
Craniofrontonasal Dysplasia
Camptodactyly of finger, Congenital diaphragmatic hernia ORPHA:1520
Loeys-Dietz Syndrome 1
Bicuspid aortic valve, Arachnodactyly, Eosinophilic infiltration of the esophagus, Arterial tortu... OMIM:609192
Aase-Smith Syndrome
Camptodactyly of finger, Cleft palate, Aplasia/Hypoplasia of the radius, Talipes equinovarus, Abn... ORPHA:916
Thrombocytopenia-Absent Radius Syndrome
Finger syndactyly, Tibial torsion, Aplasia/hypoplasia of the humerus, Absent radius, Coxa valga, ... ORPHA:3320
Oligomeganephronia
Branchial cyst, Pulmonary venous occlusion, Congenital diaphragmatic hernia, Secundum atrial sept... ORPHA:2260
Acromelic Frontonasal Dysplasia
Encephalocele, Median cleft lip, Cryptorchidism, Meningocele, Choroid plexus cyst, Patellar hypop... ORPHA:1827
Temtamy Preaxial Brachydactyly Syndrome
Abnormal spaced incisors, Abnormally large globe, Widely-spaced maxillary central incisors, Parti... ORPHA:363417
Multiple Pterygium Syndrome, X-Linked
Cleft upper lip, Cleft palate, Pulmonary hypoplasia, Hypoplastic heart, Short finger OMIM:312150
Blepharonasofacial Malformation Syndrome
Finger syndactyly, Cryptorchidism, Non-midline cleft lip, Cleft palate, Tooth agenesis, Long phil... ORPHA:1252
Papilloma Of Choroid Plexus
Choroid plexus papilloma, Hydrocephalus ORPHA:2807
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia
11 pairs of ribs, Rhizomelia, Hydrocephalus, Metaphyseal cupping of proximal phalanges, Thin ribs... OMIM:300863
Neurodevelopmental Disorder With Structural Brain Anomalies And Dysmorphic Facies
Ventriculomegaly, Ulnar deviation of the wrist, Cryptorchidism, Hydrocephalus, Long philtrum, Cli... OMIM:618577
Hypogonadotropic Hypogonadism 3 With Or Without Anosmia
Hypogonadotropic hypogonadism, Cleft upper lip, Cryptorchidism, Cleft palate, Finger joint hyperm... OMIM:244200
Osteochondrodysplasia, Rhizomelic, With Callosal Agenesis, Thrombocytopenia, Hydrocephalus, And Hypertension
Hydrocephalus, Rhizomelia OMIM:166990
Jackson-Weiss Syndrome
Broad hallux phalanx, Toe syndactyly, Short metatarsal, 2-3 toe syndactyly, Symphalangism affecti... ORPHA:1540
Klippel-Feil Syndrome 2, Autosomal Recessive
Ventricular septal defect, Cleft palate, Cleft upper lip OMIM:214300
Mitochondrial Complex I Deficiency, Nuclear Type 16
Aplasia of the left hemidiaphragm OMIM:618238
Proximal 16P11.2 Microdeletion Syndrome
Dextrocardia, Congenital diaphragmatic hernia, Abnormal heart morphology, Abnormal aortic valve m... ORPHA:261197
Joubert Syndrome 7
Encephalocele, Postaxial hand polydactyly, Postaxial polydactyly, Genu valgum OMIM:611560
Periventricular Nodular Heterotopia 7
Contracture of the proximal interphalangeal joint of the 2nd finger, Ventricular septal defect, D... OMIM:617201
Fetal Trimethadione Syndrome
Ambiguous genitalia, Ventricular septal defect, Hypospadias, High palate, Transposition of the gr... ORPHA:1913
Thakker-Donnai Syndrome
Communicating hydrocephalus, Ventricular septal defect, Congenital diaphragmatic hernia, Transpos... ORPHA:1780
Silver-Russell Syndrome Due To Maternal Uniparental Disomy Of Chromosome 11
Clinodactyly of the 5th finger, External genital hypoplasia, Cleft palate, Abnormal heart morphology ORPHA:231147
Bardet-Biedl Syndrome 1
Decreased testicular size, Syndactyly, Dental crowding, Aganglionic megacolon, Postaxial polydact... OMIM:209900
Donnai-Barrow Syndrome
Omphalocele, Ventricular septal defect, Congenital diaphragmatic hernia, Umbilical hernia, Diaphr... OMIM:222448
Microphthalmia/Coloboma And Skeletal Dysplasia Syndrome
Anophthalmia, Rhizomelia, Hypospadias, Precocious puberty, 2-3 toe syndactyly, Long philtrum, Mic... OMIM:615877
Multiple Epiphyseal Dysplasia, Al-Gazali Type
Delayed epiphyseal ossification, Triangular mouth, Genu valgum, Cutaneous syndactyly, Clinodactyl... ORPHA:166024
Bresek Syndrome
Aganglionic megacolon, Optic nerve hypoplasia, Cryptorchidism, Postaxial hand polydactyly, Hydroc... ORPHA:85284
Noonan Syndrome 12
Ventricular septal defect, Proximal placement of thumb, Anteriorly placed anus, Tetralogy of Fall... OMIM:618624
Non-Syndromic Posterior Hypospadias
Omphalocele, Congenital diaphragmatic hernia ORPHA:95706
Orofacial Cleft 14
Median cleft lip OMIM:615892
Bohring-Opitz Syndrome
Syndactyly, Bilateral cleft palate, Overlapping toe, Ulnar deviation of the wrist, Ventricular se... OMIM:605039
Intellectual Developmental Disorder, X-Linked, Syndromic, 35
Atrial septal defect, Thin upper lip vermilion, Contracture of the proximal interphalangeal joint... OMIM:300998
Abruzzo-Erickson Syndrome
Toe syndactyly, Hypospadias, Cryptorchidism, Short toe, Coronal hypospadias, Cleft palate, Ulnar ... ORPHA:921
Thanatophoric Dysplasia
Atrial septal defect, Micromelia, Abnormal sacroiliac joint morphology, Patent ductus arteriosus,... ORPHA:2655
Holt-Oram Syndrome
Secundum atrial septal defect, Aplasia of the pectoralis major muscle, Abnormal carpal morphology... OMIM:142900
Curry-Jones Syndrome
Anal stenosis, Occipital meningocele, Intestinal pseudo-obstruction, Duplication of thumb phalanx... OMIM:601707
Hyperphosphatasia With Impaired Intellectual Development Syndrome 2
Peripheral pulmonary artery stenosis, Anal stenosis, Tented upper lip vermilion, Broad hallux, Ag... OMIM:614749
Periventricular Nodular Heterotopia 1
Syndactyly, Bicuspid aortic valve, Cerebral hemorrhage, Patent ductus arteriosus, Stroke, Short f... OMIM:300049
Fg Syndrome Type 1
Dental crowding, Single transverse palmar crease, Fused teeth, High palate, Atrial septal defect,... ORPHA:93932
Split-Foot Deformity With Mandibulofacial Dysostosis
Split hand, Toe syndactyly, Cleft palate, Split foot OMIM:183700
Postaxial Oligodactyly, Tetramelic
Radial bowing, Aplasia of the 5th metacarpal, Single transverse palmar crease, Absent fifth metat... OMIM:176240
Pineocytoma
Hydrocephalus, Increased CSF protein concentration ORPHA:251912
Fraser Syndrome
Hypoplasia of penis, Anophthalmia, Dental crowding, Small scrotum, Abnormal lung lobation, Orofac... ORPHA:2052
3Q29 Microduplication Syndrome
Toe syndactyly, Sandal gap, Ventricular septal defect, Abnormality of the dentition, Deep philtru... ORPHA:251038
Congenital Varicella Syndrome
Microphthalmia, Micromelia ORPHA:291
Vitamin K Antagonist Embryofetopathy
Myelomeningocele, Hydrocephalus, Macroglossia, Epiphyseal stippling, Aplasia/Hypoplasia affecting... ORPHA:1914
Oculodentodigital Dysplasia
Atrial septal defect, Selective tooth agenesis, Microdontia, Cleft upper lip, Carious teeth, 4-5 ... OMIM:164200
Aphalangia, Partial, With Syndactyly And Duplication Of Metatarsal Iv
Aplasia/Hypoplasia of toe, Syndactyly, Duplication of metatarsal bones, Cutaneous finger syndactyly OMIM:600384
Enlarged Parietal Foramina
Occipital encephalocele, Cleft lip, Myelomeningocele, Cleft palate, Short clavicles, Abnormal cer... ORPHA:60015
Cleft Lip-Retinopathy Syndrome
Non-midline cleft lip ORPHA:1995
Thanatophoric Dysplasia, Type I
Bowing of the long bones, Small abnormally formed scapulae, Thoracic hypoplasia, Polyhydramnios, ... OMIM:187600
Verheij Syndrome
Branchial cyst, Thin upper lip vermilion, Truncus arteriosus, Optic nerve hypoplasia, Ventricular... OMIM:615583
Culler-Jones Syndrome
Postaxial polydactyly, Cleft upper lip, Cryptorchidism, Cleft palate, Hypogonadism, Micropenis OMIM:615849
Microphthalmia, Isolated, With Coloboma 4
Microphthalmia OMIM:251505
Anophthalmia-Megalocornea-Cardiopathy-Skeletal Anomalies Syndrome
Anophthalmia, Camptodactyly of finger, High, narrow palate, Cryptorchidism, Ulnar deviation of fi... ORPHA:1101
Fetal Alcohol Syndrome
Atrial septal defect, Congenital diaphragmatic hernia ORPHA:1915
Holoprosencephaly 5
Syntelencephaly, Alobar holoprosencephaly, Deep philtrum, Hydrocephalus, Orofacial cleft, Lobar h... OMIM:609637
Humerofemoral Hypoplasia With Radiotibial Ray Deficiency
Elbow flexion contracture, Congenital diaphragmatic hernia OMIM:618022
Rhombencephalosynapsis
Finger syndactyly, Septo-optic dysplasia, Ventriculomegaly, Aganglionic megacolon, Esophageal atr... ORPHA:59315
Thoraco-Abdominal Enteric Duplication
Dextrocardia, Meningocele, Abnormal tricuspid valve morphology, Camptodactyly of finger ORPHA:1759
Johnson Neuroectodermal Syndrome
Carious teeth, Preaxial hand polydactyly, Cleft palate, Hand polydactyly, Everted lower lip vermi... ORPHA:2316
Cleft Lip/Palate-Ectodermal Dysplasia Syndrome
Finger syndactyly, Recurrent respiratory infections, Toe syndactyly, Bilateral single transverse ... ORPHA:3253
Ogden Syndrome
Everted upper lip vermilion, Ventricular septal defect, Broad hallux, High, narrow palate, Pulmon... ORPHA:276432
Platyspondylic Lethal Skeletal Dysplasia, Torrance Type
Micromelia, Polyhydramnios, Narrow chest, Severe limb shortening, Radial bowing, Rhizomelia, Dumb... OMIM:151210
Microcephalic Osteodysplastic Primordial Dwarfism, Type I
Single transverse palmar crease, Micromelia, Delayed epiphyseal ossification, Preaxial polydactyl... OMIM:210710
Acrocapitofemoral Dysplasia
Micromelia, Short proximal phalanx of thumb, Coxa vara, Pectus carinatum, Narrow chest, Hypoplast... OMIM:607778
Trisomy 17P
Hypoplasia of penis, Tapered finger, Patent ductus arteriosus, Hydrocephalus, Orofacial cleft, Cl... ORPHA:261290
Proximal 16P11.2 Microduplication Syndrome
Congenital diaphragmatic hernia ORPHA:370079
Pelvis-Shoulder Dysplasia
Congenital hip dislocation, Hypoplastic scapulae, Hypoplastic ilia, Hypoplastic acetabulae, Short... OMIM:169550
Robinow Syndrome, Autosomal Recessive 1
Short palm, Duplication of the distal phalanx of hand, Dislocated radial head, Radial bowing, Mes... OMIM:268310
Cofs Syndrome
Hypogonadism, Microphthalmia, Everted lower lip vermilion, Camptodactyly of finger ORPHA:1466
Pancreatic Hypoplasia-Diabetes-Congenital Heart Disease Syndrome
Double outlet left ventricle, Ventricular septal defect, Intestinal malrotation, Patent foramen o... ORPHA:2255
Cervical Ribs, Sprengel Anomaly, Anal Atresia, And Urethral Obstruction
Preaxial hand polydactyly, Sprengel anomaly, Cervical ribs, Talipes equinovarus OMIM:601389
Distal Triplication 15Q
Arachnodactyly, Abnormal external genitalia, Patent ductus arteriosus, Hypoplastic aortic arch, H... ORPHA:314588
Fryns Syndrome
Bifid scrotum, Tented upper lip vermilion, Single transverse palmar crease, Proximal placement of... OMIM:229850
Achondrogenesis, Type Ia
Abnormal femoral metaphysis morphology, Micromelia, Bowing of the legs, Beaded ribs, Abnormal han... OMIM:200600
Short Stature And Facioauriculothoracic Malformations
High palate, Ventricular septal defect, Cleft palate, Cleft upper lip OMIM:609654
Roifman Syndrome
Hip contracture, Short metacarpal, Noncompaction cardiomyopathy, Ventricular septal defect, Singl... OMIM:616651
Cleft Lip/Palate-Intestinal Malrotation-Cardiopathy Syndrome
Intestinal malrotation, Patent ductus arteriosus, Bilateral cleft lip and palate, Abnormal aortic... ORPHA:2001
Axial Mesodermal Dysplasia Spectrum
Omphalocele, Hydrocephalus, Congenital diaphragmatic hernia, Aplasia/Hypoplasia of the lungs ORPHA:1834
X-Linked Intellectual Disability, Abidi Type
Non-midline cleft lip, Decreased testicular size, Cleft palate ORPHA:85273
Non-Distal Duplication 13Q
Arachnodactyly, Abnormality of the dentition, Cryptorchidism, Postaxial hand polydactyly, Thin ve... ORPHA:1702
Osteopathia Striata With Cranial Sclerosis
Dental crowding, Osteopathia striata, High palate, Atrial septal defect, Clinodactyly of the 5th ... OMIM:300373
Isotretinoin-Like Syndrome
Bicuspid aortic valve, Abnormal cardiac ventricle morphology, Patent ductus arteriosus, Hydroceph... ORPHA:2306
3Mc Syndrome 1
Atrial septal defect, Ventricular septal defect, Single interphalangeal crease of fifth finger, D... OMIM:257920
Achondrogenesis Type 1A
Multiple rib fractures, Micromelia, Polyhydramnios, Short thorax, Hydrops fetalis, Short foot, Na... ORPHA:93299
Congenital Hemidysplasia With Ichthyosiform Erythroderma And Limb Defects
Aplasia of the distal phalanx of the 2nd finger, 2-5 finger syndactyly, Syndactyly, Congenital hi... OMIM:308050
Larsen Syndrome
Short metacarpal, Ventricular septal defect, Spatulate thumbs, Cleft upper lip, Elbow dislocation... OMIM:150250
Adams-Oliver Syndrome 6
Syndactyly, Ventricular septal defect, Esophageal varix, Foot oligodactyly, Truncus arteriosus, B... OMIM:616589
Kagami-Ogata Syndrome
Omphalocele, Inguinal hernia, Ventricular septal defect, Diastasis recti, Flexion contracture, Pu... OMIM:608149
Temple Syndrome
Decreased testicular size, Precocious puberty, Cryptorchidism, Hydrocephalus, Small hand, Cleft p... OMIM:616222
Mosaic Trisomy 16
Syndactyly, Single coronary artery origin, Ventricular septal defect, Single transverse palmar cr... ORPHA:1708
Mycophenolate Mofetil Embryopathy
Ventricular septal defect, Hydrocephalus, Tracheoesophageal fistula, Orofacial cleft, Coarctation... ORPHA:268249
Septooptic Dysplasia
Optic disc hypoplasia, Polydactyly, Optic nerve hypoplasia, Short finger OMIM:182230
Dyssegmental Dysplasia, Silverman-Handmaker Type
Encephalocele, Broad long bones, Micromelia, Bowing of the legs, Hypoplastic ilia, Cryptorchidism... ORPHA:1865
Cat Eye Syndrome
Meckel diverticulum, Anal stenosis, Ventricular septal defect, Intestinal malrotation, Rectal fis... OMIM:115470
Neurodevelopmental, Jaw, Eye, And Digital Syndrome
Sandal gap, Lens coloboma, 2-3 toe syndactyly, Small thenar eminence, Lateral ventricle dilatatio... OMIM:618914
Atrial Septal Defect 2
Ventricular septal defect, Dextrocardia, Pulmonic stenosis, Atrial septal defect, Atrioventricula... OMIM:607941
Tibial Hemimelia
Aplasia of the 2nd metacarpal, Aplasia of the 4th metacarpal, Cutaneous finger syndactyly, Foot o... ORPHA:93322
Congenital Hydrocephalus
Hydrocephalus, Abnormal heart morphology, Colpocephaly, Macular hypoplasia, Ventriculomegaly ORPHA:2185
Focal Dermal Hypoplasia
Congenital hip dislocation, Anophthalmia, Osteopathia striata, Short metatarsal, Anteriorly place... OMIM:305600
Beemer Lethal Malformation Syndrome
Ambiguous genitalia, Hydrocephalus OMIM:209970
Orofaciodigital Syndrome Xv
Broad hallux, Postaxial hand polydactyly, Duplication of phalanx of hallux, Midline notch of uppe... OMIM:617127
Pseudoaminopterin Syndrome
Brachydactyly, Overlapping toe, Single transverse palmar crease, Limited elbow movement, Postaxia... ORPHA:221120
Autosomal Dominant Popliteal Pterygium Syndrome
Bifid scrotum, Finger syndactyly, Thin upper lip vermilion, Toe syndactyly, Small scrotum, Lip pi... ORPHA:1300
Woods Syndrome
Ventricular septal defect, Single transverse palmar crease, 3-4 finger cutaneous syndactyly, Thin... OMIM:615236
Alar Cartilages Hypoplasia-Coloboma-Telecanthus Syndrome
Non-midline cleft lip ORPHA:2007
Dextrocardia
Congenital hip dislocation, Dextrocardia, Intestinal malrotation, Situs inversus totalis, Abnorma... ORPHA:1666
Congenital Sialidosis Type 2
Hypoplasia of the fovea, Protruding tongue, Respiratory tract infection, Hydrocephalus, Gingival ... ORPHA:93400
Focal Dermal Hypoplasia
Abnormal palmar dermatoglyphics, Hypoplasia of the iris, Finger syndactyly, Abnormal dental morph... ORPHA:2092
Multiple Pterygium Syndrome, Escobar Variant
Syndactyly, Long clavicles, Arachnodactyly, Rocker bottom foot, Down-sloping shoulders, Patellar ... OMIM:265000
Congenital Myopathy 12
Arachnodactyly, High, narrow palate, Pulmonary artery stenosis, High palate, Camptodactyly, Overl... OMIM:612540
Sifrim-Hitz-Weiss Syndrome
Ambiguous genitalia, Ventricular septal defect, Hypogonadotropic hypogonadism, Tapered finger, Cr... OMIM:617159
Thumb Deformity-Alopecia-Pigmentation Anomaly Syndrome
Finger syndactyly, Abnormal dental morphology, Camptodactyly of finger, Short thumb, Palmoplantar... ORPHA:2251
14Q22Q23 Microdeletion Syndrome
Finger syndactyly, Optic nerve aplasia, Toe syndactyly, Anophthalmia, Ventriculomegaly, Small scr... ORPHA:264200
Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency
Syndactyly, Ventricular septal defect, Abnormality of the hand, Cryptorchidism, Bilateral microph... ORPHA:369891
Developmental And Epileptic Encephalopathy 36
Hydrocephalus, Small hand OMIM:300884
Epiphyseal Dysplasia-Hearing Loss-Dysmorphism Syndrome
Finger syndactyly, Proximal placement of thumb, Abnormal thumb morphology, Deep philtrum, Wide mo... ORPHA:1825
Bartsocas-Papas Syndrome 2
2-5 finger cutaneous syndactyly, Accessory oral frenulum, Small hand, Bilateral cleft lip and pal... OMIM:619339
Roberts Syndrome
Aplasia/Hypoplasia of the thumb, Proximal placement of thumb, High palate, Clinodactyly of the 5t... ORPHA:3103
Brachydactyly-Syndactyly Syndrome
Syndactyly, Finger syndactyly, Camptodactyly, Short phalanx of finger, Short digit, Oligodactyly,... OMIM:610713
Weiss-Kruszka Syndrome
Ventriculomegaly, Bicuspid aortic valve, Single transverse palmar crease, Proximal placement of t... OMIM:618619
Cortical Dysplasia, Complex, With Other Brain Malformations 9
Hydrocephalus, Pulmonary hypoplasia OMIM:618174
Joubert Syndrome 16
Encephalocele, Polydactyly OMIM:614465
Joubert Syndrome 22
Postaxial foot polydactyly, Microphthalmia, Postaxial hand polydactyly, 2-3 toe syndactyly OMIM:615665
Intellectual Disability-Facial Dysmorphism-Hand Anomalies Syndrome
Thin upper lip vermilion, Brachydactyly, Single transverse palmar crease, Bifid distal phalanx of... ORPHA:370010
Smith-Magenis Syndrome
Toe syndactyly, Tented upper lip vermilion, Delayed eruption of primary teeth, Cleft upper lip, P... ORPHA:819
Diamond-Blackfan Anemia 10
Ventricular septal defect, Congenital diaphragmatic hernia, Morgagni diaphragmatic hernia OMIM:613309
Polydactyly-Myopia Syndrome
Cryptorchidism, Postaxial hand polydactyly ORPHA:2917
Polydactyly, Postaxial, Type A7
Postaxial foot polydactyly, Postaxial hand polydactyly, Short fifth metatarsal, 2-3 toe cutaneous... OMIM:617642
Fanconi Anemia, Complementation Group G
Abnormal thumb morphology, Microphthalmia OMIM:614082
Arthrogryposis, Perthes Disease, And Upward Gaze Palsy
Ventricular septal defect, Overlapping toe, Avascular necrosis of the capital femoral epiphysis, ... OMIM:614262
Kapur-Toriello Syndrome
Hypoplasia of penis, Ventricular septal defect, Intestinal malrotation, Patent ductus arteriosus,... ORPHA:2328
Global Developmental Delay-Alopecia-Macrocephaly-Facial Dysmorphism-Structural Brain Anomalies Syndrome
Tapered toe, Polyhydramnios, Tapered finger, Increased nuchal translucency, Rib fusion, Clinodact... ORPHA:544488
Williams Syndrome
Hypoplasia of penis, Bicuspid aortic valve, Abnormal cerebral vascular morphology, Cardiomegaly, ... ORPHA:904
Toe Syndactyly, Telecanthus, And Anogenital And Renal Malformations
Atrial septal defect, Thin upper lip vermilion, Toe syndactyly, Bicuspid aortic valve, Single tra... OMIM:300707
Hypertelorism-Hypospadias-Polysyndactyly Syndrome
Encephalocele, Finger syndactyly, Broad hallux phalanx, Bifid scrotum, Abnormal penis morphology,... ORPHA:2211
Port-Wine Nevi-Mega Cisterna Magna-Hydrocephalus Syndrome
Hydrocephalus ORPHA:2703
Lymphedema-Distichiasis Syndrome
Ventricular septal defect, Cleft upper lip, Patent ductus arteriosus, Cleft palate, Varicose vein... OMIM:153400
Marfan Syndrome
Dental crowding, Limited elbow movement, High, narrow palate, Increased axial length of the globe... ORPHA:558
Pierre Robin Sequence With Pectus Excavatum And Rib And Scapular Anomalies
Pectus excavatum, Hypoplastic distal segments of scapulae, Abnormal rib morphology OMIM:602196
Lethal Congenital Contracture Syndrome 9
Elbow extension contracture, Centrally nucleated skeletal muscle fibers, Flexion contracture, Myo... OMIM:616503
Khan-Khan-Katsanis Syndrome
Tented upper lip vermilion, Patent ductus arteriosus after premature birth, Postaxial polydactyly... OMIM:618460
Hemangiomas, Cavernous, Of Face And Supraumbilical Midline Raphe
Bifid sternum, Supraumbilical raphe OMIM:140850
Campomelia, Cumming Type
Death in infancy, Bowing of the long bones, Micromelia, Lymphedema, Abnormal thorax morphology, A... ORPHA:1318
Au-Kline Syndrome
Overlapping toe, Postaxial polydactyly, Coxa valga, Cryptorchidism, Lipomyelomeningocele, Dental ... OMIM:616580
Polysyndactyly With Cardiac Malformation
Syndactyly, Polyhydramnios, Preaxial hand polydactyly, Duplication of phalanx of hallux, Stillbirth OMIM:263630
Mitochondrial Complex I Deficiency, Nuclear Type 35
Cardiomyopathy, Pulmonary hypoplasia OMIM:619003
Teebi Hypertelorism Syndrome 2
Delayed eruption of teeth, Syndactyly, Thin upper lip vermilion, Hypospadias, Cleft palate, High ... OMIM:619736
Skeletal Dysplasia, Mild, With Joint Laxity And Advanced Bone Age
Scapular winging, Ventricular septal defect, Single transverse palmar crease, Micromelia, Monkey ... OMIM:618870
Spondylometaphyseal Dysplasia With Cone-Rod Dystrophy
Short metacarpal, Rhizomelia, Cupped ribs, Metaphyseal widening, Coxa vara, Tibial bowing, Femora... OMIM:608940
Thanatophoric Dysplasia Type 1
Bowing of the long bones, Short femur, Micromelia, Hypoplastic ilia, Abnormal sacroiliac joint mo... ORPHA:1860
Trisomy 8P
Short fourth metatarsal, Single transverse palmar crease, Abnormal atrioventricular connection, A... ORPHA:264450
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 4B
Pulmonary hypoplasia OMIM:615228
Premature Ovarian Failure 12
Microphthalmia OMIM:616947
Myhre Syndrome
External genital hypoplasia, Epispadias, Short palm, Large iliac wing, Bifid uvula, Abnormal peni... ORPHA:2588
Metaphyseal Dysostosis, Impaired Intellectual Development, And Conductive Deafness
Metaphyseal dysplasia, Brachydactyly, Irregular iliac crest, Cupped ribs, Metaphyseal widening, F... OMIM:250420
Alkuraya-Kucinskas Syndrome
Ventriculomegaly, Small scrotum, Overlapping toe, Pericardial effusion, Hydrocephalus, Cutaneous ... OMIM:617822
Spondylo-Megaepiphyseal-Metaphyseal Dysplasia
Enlarged epiphyses, Metaphyseal dysplasia, Proximal placement of thumb, Hypoplastic ilia, Hydroce... OMIM:613330
Microphthalmia, Syndromic 11
Microphthalmia, Cleft palate, Cleft upper lip OMIM:614402
Orofaciodigital Syndrome Type 1
Lobulated tongue, High palate, Clinodactyly of the 5th finger, Dandy-Walker malformation, Finger ... ORPHA:2750
C Syndrome
Short metacarpal, Toe syndactyly, Ventricular septal defect, Micromelia, Accessory oral frenulum,... OMIM:211750
Temtamy Preaxial Brachydactyly Syndrome
Syndactyly, Short metacarpal, Hitchhiker thumb, Tarsal synostosis, Diastema, Deep philtrum, Talon... OMIM:605282
Oculodentodigital Dysplasia
Clinodactyly of the 5th finger, Finger syndactyly, Abnormal dental enamel morphology, Short hallu... ORPHA:2710
Lethal Congenital Contracture Syndrome Type 1
Skeletal muscle atrophy, Pulmonary hypoplasia ORPHA:1486
Congenital Heart Defects And Skeletal Malformations Syndrome
Ventricular septal defect, Repeated pneumothoraces, Congenital diaphragmatic hernia, Camptodactyl... OMIM:617602
Braddock-Carey Syndrome 1
U-Shaped upper lip vermilion, Aortic valve prolapse, Ventricular septal defect, Pierre-Robin sequ... OMIM:619980
Bardet-Biedl Syndrome 17
Mesoaxial polydactyly, Short fourth metatarsal, Mesoaxial hand polydactyly, Dextrocardia, Situs i... OMIM:615994
Impaired Intellectual Development And Distinctive Facial Features With Or Without Cardiac Defects
Cryptorchidism, Wide mouth, Macroglossia, Everted lower lip vermilion, Transposition of the great... OMIM:616789
Kbg Syndrome
Syndactyly, Single transverse palmar crease, Rib fusion, Cutaneous syndactyly, Thoracic kyphosis,... OMIM:148050
Teebi-Shaltout Syndrome
Syndactyly, Ulnar deviation of the hand, Ventricular septal defect, Single transverse palmar crea... OMIM:272950
Hydrocephaly-Tall Stature-Joint Laxity Syndrome
Arachnodactyly, High, narrow palate, Hydrocephalus, Shoulder dislocation, Umbilical hernia, Adduc... ORPHA:2181
Popliteal Pterygium Syndrome
Bifid scrotum, Hypoplasia of the vagina, Small scrotum, Cleft upper lip, Cryptorchidism, Lower li... OMIM:119500
Juberg-Hayward Syndrome
Toe syndactyly, Short thumb, Hypoplasia of the radius, Abnormal finger morphology, Abnormality of... ORPHA:2319
Meester-Loeys Syndrome
Aortic dissection, Arachnodactyly, Gingival overgrowth, Mitral valve prolapse, Ascending tubular ... OMIM:300989
Nail-Patella Syndrome
Biceps aplasia, Glenoid fossa hypoplasia, Spina bifida, Cleft upper lip, Triceps aplasia, Patella... OMIM:161200
Lowry-Maclean Syndrome
Hydrocephalus, Atrioventricular canal defect, Inguinal hernia, Congenital diaphragmatic hernia ORPHA:2409
Split-Hand/Foot Malformation 6
Finger syndactyly, Toe syndactyly, Split hand, Hand oligodactyly, Split foot, Foot oligodactyly OMIM:225300
Congenital Tracheomalacia
Ventricular septal defect, Pneumonia, Cardiomegaly, Esophageal atresia, Patent ductus arteriosus,... ORPHA:95430
Richieri-Costa/Guion-Almeida Syndrome
Cleft upper lip, Cleft palate, Palmoplantar cutis laxa, Spina bifida occulta, Abnormal digit morp... OMIM:268850
Distal Deletion 13Q
Encephalocele, Aplasia/Hypoplasia of the thumb, Abnormality of the hand, Anencephaly, Abnormal ca... ORPHA:1590
Limb Body Wall Complex
Ventral hernia, Encephalocele, Ventricular septal defect, Diastasis recti, Congenital diaphragmat... ORPHA:2369
Hypomelanosis Of Ito
Syndactyly, Thick lower lip vermilion, Irregularly spaced teeth, Hand polydactyly, Radial deviati... OMIM:300337
Neurodevelopmental Disorder With Dysmorphic Facies And Ischiopubic Hypoplasia
Recurrent respiratory infections, Ventricular septal defect, Cleft palate, Coarctation of aorta, ... OMIM:620210
Meier-Gorlin Syndrome 7
Bowing of the legs, Anteriorly placed anus, High palate, Atrial septal defect, Micropenis, Disloc... OMIM:617063
Syndactyly, Type V
Brachydactyly, Camptodactyly of finger, 4-5 toe syndactyly, 4-5 metacarpal synostosis, Enlarged p... OMIM:186300
Craniosynostosis-Dandy-Walker Malformation-Hydrocephalus Syndrome
Hydrocephalus, Dandy-Walker malformation ORPHA:1538
Edinburgh Malformation Syndrome
U-Shaped upper lip vermilion, Hydrocephalus OMIM:129850
Aortic Valve Disease 1
Ventricular septal defect, Bicuspid aortic valve, Mitral atresia, Aortic valve calcification, Dou... OMIM:109730
Scleromyxedema
Abnormal coronary artery morphology, Transient ischemic attack, Abnormality of the hand, Abnormal... ORPHA:167635
Autosomal Dominant Coarctation Of Aorta
Aortic arch aneurysm, Ventricular septal defect, Patent ductus arteriosus, Abnormal aortic arch m... ORPHA:1455
Ring Chromosome 21 Syndrome
Syndactyly, Small hand, Narrow palm, Abnormal heart morphology, Azoospermia, Holoprosencephaly, C... ORPHA:1445
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 1
Macroglossia, Microphthalmia, Hydrocephalus, Cardiomyopathy OMIM:613155
Autosomal Recessive Robinow Syndrome
Finger syndactyly, Broad hallux phalanx, Toe syndactyly, Bilateral single transverse palmar creas... ORPHA:1507
Multiple Pterygium Syndrome, Lethal Type
Amyoplasia, Flexion contracture, Pulmonary hypoplasia, Hypoplastic heart OMIM:253290
Multisystemic Smooth Muscle Dysfunction Syndrome
Aortic arch aneurysm, Thoracic aortic aneurysm, Intestinal malrotation, Brachiocephalic artery an... OMIM:613834
Infantile Sialic Acid Storage Disease
Cardiomegaly, Hydrocephalus, Gingival overgrowth, High palate, Metaphyseal irregularity OMIM:269920
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation
Bicuspid aortic valve, Intestinal pseudo-obstruction, High, narrow palate, Downturned corners of ... ORPHA:453504
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion
Bicuspid aortic valve, Intestinal pseudo-obstruction, High, narrow palate, Downturned corners of ... ORPHA:352665
Nephrotic Syndrome, Type 11
Ventricular septal defect, Arachnodactyly, Cleft lip, Partial duplication of thumb phalanx, Dilat... OMIM:616730
Silver-Russell Syndrome Due To A Point Mutation
Bifid scrotum, Syndactyly, Hypospadias, Cryptorchidism, Cleft palate, Short 5th finger, Polydacty... ORPHA:397590
Heart Defect-Tongue Hamartoma-Polysyndactyly Syndrome
Hamartoma of tongue, Cryptorchidism, Patent ductus arteriosus, 2-3 finger syndactyly, Subvalvular... ORPHA:1338
Cerebrooculofacioskeletal Syndrome 1
Delayed eruption of teeth, Rocker bottom foot, Coxa valga, Carious teeth, Cryptorchidism, Recurre... OMIM:214150
Fried Syndrome
Hydrocephalus, High palate, Short philtrum ORPHA:85335
Bardet-Biedl Syndrome 22
Postaxial foot polydactyly, Hypogonadism, Polydactyly OMIM:617119
Kleefstra Syndrome
Delayed eruption of teeth, Recurrent respiratory infections, Hypoplasia of penis, Tented upper li... ORPHA:261494
Craniofacial Abnormalities, Cataracts, Congenital Heart Disease, Sacral Neural Tube Defects, And Growth And Developmental Retardation
Ventricular septal defect, Thick lower lip vermilion, Widely-spaced maxillary central incisors, S... OMIM:608227
3Q29 Microdeletion Syndrome
Dental crowding, Hypospadias, Tapered finger, Abnormality of the dentition, Patent ductus arterio... ORPHA:65286
15Q11.2 Microdeletion Syndrome
Dilated fourth ventricle, Ventricular septal defect, Abnormal heart morphology, Coarctation of ao... ORPHA:261183
Keutel Syndrome
Recurrent respiratory infections, Ventricular septal defect, Pulmonary artery stenosis, Recurrent... ORPHA:85202
Hamamy Syndrome
Long toe, Syndactyly, Atrial septal defect, Thin upper lip vermilion, Down-sloping shoulders, Tap... OMIM:611174
Intellectual Developmental Disorder, X-Linked, Syndromic, Hackmann-Di Donato Type
Ventricular septal defect, Arachnodactyly, Cryptorchidism, Aortic root aneurysm, Short philtrum, ... OMIM:301039
Stuve-Wiedemann Syndrome 1
Single transverse palmar crease, Tibial bowing, Femoral bowing, Smooth tongue, Short tibia, Short... OMIM:601559
Fetal Akinesia Deformation Sequence
Multiple joint contractures, Camptodactyly of finger, Pulmonary hypoplasia, Generalized amyotroph... ORPHA:994
Autosomal Recessive Multiple Pterygium Syndrome
Finger syndactyly, Camptodactyly of finger, Pectus excavatum, Rib fusion, Symphalangism affecting... ORPHA:2990
Microcephaly-Micromelia Syndrome
Micromelia, Absent thumb, Absent radius, Aqueductal stenosis, Humeroradial synostosis, Cleft pala... OMIM:251230
Fibrochondrogenesis 1
Hydrops fetalis, Narrow greater sciatic notch, Short palm, Clinodactyly of the 5th finger, Rhizom... OMIM:228520
Tetraamelia Syndrome 1
Hypoplasia of the fallopian tube, Cleft upper lip, Absent external genitalia, Hydrocephalus, Peri... OMIM:273395
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 8
Microphthalmia, Hydrocephalus, Ventriculomegaly OMIM:614830
Neurodevelopmental Disorder With Microcephaly, Arthrogryposis, And Structural Brain Anomalies
Thin upper lip vermilion, Tented upper lip vermilion, Rocker bottom foot, Single transverse palma... OMIM:618622
You-Hoover-Fong Syndrome
Accessory oral frenulum, Cleft palate, Vascular ring, Coarctation of aorta, Clinodactyly, Double ... OMIM:616954
Intellectual Developmental Disorder, X-Linked 30
Thin upper lip vermilion, Hydrocephalus, High palate, Prominent fingertip pads, Open mouth, Thick... OMIM:300558
Craniotelencephalic Dysplasia
Microphthalmia, Septo-optic dysplasia, Frontal encephalocele, Hydrocephalus ORPHA:1528
Radius, Aplasia Of, With Cleft Lip/Palate
Absent radius, Cleft palate, Cleft upper lip OMIM:179400
Diamond-Blackfan Anemia 15 With Mandibulofacial Dysostosis
Congenital diaphragmatic hernia OMIM:606164
Temple Syndrome
Precocious puberty, Cryptorchidism, Hydrocephalus, Small hand, Short foot, Clinodactyly of the 5t... ORPHA:254516
Cohen Syndrome
High, narrow palate, Short philtrum, Clinodactyly of the 5th finger, Finger syndactyly, Arachnoda... ORPHA:193
Perlman Syndrome
Everted upper lip vermilion, Tented upper lip vermilion, Distal ileal atresia, Cryptorchidism, Vo... OMIM:267000
Cornelia De Lange Syndrome 1
Single transverse palmar crease, Micromelia, Proximal placement of thumb, High, narrow palate, Do... OMIM:122470
Corpus Callosum, Partial Agenesis Of, X-Linked
Aganglionic megacolon, Hydrocephalus, High palate, Ventriculomegaly, Dislocated radial head OMIM:304100
Hydrops Fetalis, Nonimmune, With Gracile Bones And Dysmorphism
Pulmonary hypoplasia OMIM:613124
Acitretin/Etretinate Embryopathy
Aplasia/hypoplasia involving bones of the lower limbs, Aplasia/hypoplasia involving bones of the ... ORPHA:40366
Warsaw Breakage Syndrome
Ventricular septal defect, Single transverse palmar crease, 2-3 toe syndactyly, Wide mouth, High ... OMIM:613398
Simpson-Golabi-Behmel Syndrome, Type 1
Abnormal lung lobation, Narrow greater sciatic notch, Short palm, Atrial septal defect, Exaggerat... OMIM:312870
8Q12 Microduplication Syndrome
Ventricular septal defect, Short foot, Everted lower lip vermilion, Narrow mouth, Atrial septal d... ORPHA:228399
Robin Sequence With Distinctive Facial Appearance And Brachydactyly
Tented upper lip vermilion, Aplasia of the distal phalanx of the 5th finger, Oligodontia, High pa... OMIM:608670
Neurodevelopmental Disorder With Nonspecific Brain Abnormalities And With Or Without Seizures
Hydrocephalus, Ventriculomegaly OMIM:618709
Cerebrooculofacioskeletal Syndrome 4
Rocker bottom foot, Camptodactyly of finger, Adducted thumb, Flared metaphysis, Hip dislocation, ... OMIM:610758
Boomerang Dysplasia
Finger syndactyly, Abnormal morphology of the radius, Abnormal morphology of ulna, Micromelia, Ap... ORPHA:1263
Joubert Syndrome 39
Occipital encephalocele, Hypoplastic left heart, Joint contracture of the 5th finger, Postaxial p... OMIM:619562
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy
Recurrent respiratory infections, Occipital encephalocele, Abnormal acetabulum morphology, Ventri... ORPHA:397715
Monosomy 18P
Carious teeth, Cleft palate, Downturned corners of mouth, Short philtrum, Hypodontia, Holoprosenc... ORPHA:1598
Intellectual Disability-Polydactyly-Uncombable Hair Syndrome
Broad hallux phalanx, Toe syndactyly, Metatarsus valgus, Aplasia/Hypoplasia of toe, Postaxial han... ORPHA:3082
Brachydactyly Type B
Type B brachydactyly, Finger syndactyly, Short metacarpal, 2nd-5th toe middle phalangeal hypoplas... ORPHA:93383
Craniosynostosis, Herrmann-Opitz Type
Finger syndactyly, Micromelia, Split hand, Abnormal rib morphology, Oligohydramnios, Brachydactyly ORPHA:2145
Peroxisome Biogenesis Disorder 12A (Zellweger)
Abnormality of the male genitalia, Patent ductus arteriosus, Hydrocephalus, Atrial septal defect,... OMIM:614886
Fanconi Anemia
Abnormal femur morphology, High palate, Abnormality of the uterus, Triphalangeal thumb, Atrial se... ORPHA:84
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
Iniencephaly
Omphalocele, Encephalocele, Congenital diaphragmatic hernia, Spina bifida, Myelomeningocele, Hydr... ORPHA:63259
Teebi Hypertelorism Syndrome 1
Thin upper lip vermilion, Natal tooth, Ventricular septal defect, Dental crowding, Small hand, Br... OMIM:145420
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome
Bicuspid aortic valve, Short palm, Clinodactyly of the 5th finger, Atrioventricular canal defect,... ORPHA:508498
German Syndrome
Camptodactyly of finger, Cryptorchidism, Orofacial cleft, Abnormal cardiac septum morphology, Hig... ORPHA:2077
Ciliary Dyskinesia, Primary, 40
Situs inversus totalis, Patent ductus arteriosus, Right aortic arch, Azoospermia, Interrupted inf... OMIM:618300
Spondyloepimetaphyseal Dysplasia, Strudwick Type
Brachydactyly, Club-shaped proximal femur, Anterior rib cupping, Clinodactyly, Hypoplastic pubic ... OMIM:184250
Spondyloepiphyseal Dysplasia-Craniosynostosis-Cleft Palate-Cataracts-Intellectual Disability Syndrome
Coxa valga, Abnormality of the elbow, Flattened epiphysis, Flat acetabular roof, Hemiatrophy of u... ORPHA:163649
Arterial Tortuosity Syndrome
Ventricular hypertrophy, Inguinal hernia, Congenital diaphragmatic hernia, Hiatus hernia, Pulmona... OMIM:208050
Pfeiffer Syndrome Type 2
Finger syndactyly, Broad hallux phalanx, Toe syndactyly, Intestinal malrotation, Short hallux, Ha... ORPHA:93259
Limb-Mammary Syndrome
Hallux valgus, Syndactyly, Split hand, Cleft palate, Split foot, Hypodontia, Camptodactyly, Joint... OMIM:603543
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects
Bicuspid aortic valve, Abnormally large globe, Cardiomegaly, Shoulder dislocation, Atrial septal ... OMIM:245600
Yunis-Varon Syndrome
Aplasia of the distal phalanges of the hand, Single transverse palmar crease, Cardiomegaly, High,... ORPHA:3472
Microcephalic Primordial Dwarfism, Toriello Type
Abnormal rib morphology, Abnormal epiphysis morphology, Brachydactyly ORPHA:2643
Intellectual Disability-Strabismus Syndrome
Congenital diaphragmatic hernia, Achilles tendon contracture, Congenital finger flexion contractu... ORPHA:363528
Gracile Bone Dysplasia
Hydrocephalus, Flared metaphysis, Slender long bone, Aniridia, Microphthalmia, Micropenis, Ankylo... OMIM:602361
Encephalocraniocutaneous Lipomatosis
Ventricular septal defect, Cryptorchidism, Hydrocephalus, Hypoplasia of the iris, Subvalvular aor... OMIM:613001
Atypical Teratoid Rhabdoid Tumor
Hydrocephalus ORPHA:99966
Microcephaly-Corpus Callosum And Cerebellar Vermis Hypoplasia-Facial Dysmorphism-Intellectual Disability Syndrom
Bicuspid aortic valve, Ventricular septal defect, Hypospadias, Cryptorchidism, Patent ductus arte... ORPHA:500159
Naxos Disease
Cardiomyopathy, Palmoplantar keratoderma, Cleft upper lip ORPHA:34217
Kleeblattschaedel
Hydrocephalus, Elbow ankylosis OMIM:148800
Isotretinoin Embryopathy-Like Syndrome
Cleft palate, Hydrocephalus, Conotruncal defect OMIM:243440
Postaxial Acrofacial Dysostosis
Hypoplasia of the ulna, Finger syndactyly, Camptodactyly of finger, Non-midline cleft lip, Hypopl... ORPHA:246
Ellis Van Creveld Syndrome
Abnormal oral mucosa morphology, Micromelia, Epispadias, Conical incisor, Microdontia, Atrial sep... ORPHA:289
Mend Syndrome
Overlapping toe, Broad hallux, Asymmetry of the mouth, Long fingers, Hydrocephalus, Cryptorchidis... ORPHA:401973
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome
Thin upper lip vermilion, Ventriculomegaly, Ventricular septal defect, Abnormally large globe, Pa... ORPHA:1655
Acrofacial Dysostosis, Palagonia Type
Finger syndactyly, High, narrow palate, Supernumerary tooth, Small hand, Oligodontia, Unilateral ... ORPHA:1787
Heterotaxy, Visceral, 5, Autosomal
Bilateral trilobed lung, Right atrial isomerism, Ventricular septal defect, Dextrocardia, Intesti... OMIM:270100
Femoral-Facial Syndrome
Short third metatarsal, Short humerus, Short fourth metatarsal, Toe syndactyly, Short fifth metat... OMIM:134780
Seckel Syndrome 2
Hypospadias, Microdontia, Clinodactyly of the 5th finger, Microphthalmia, Microglossia OMIM:606744
Nanophthalmos
Microphthalmia ORPHA:35612
Kury-Isidor Syndrome
Finger syndactyly, Tented upper lip vermilion, Ventricular septal defect, Rocker bottom foot, Pro... OMIM:619762
Ventriculomegaly With Defects Of The Radius And Kidney
Bowed forearm bones, Ventriculomegaly, Absent thumb, Absent radius, Hydrocephalus, Lateral ventri... OMIM:602200
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 1
Recurrent respiratory infections, Secundum atrial septal defect, Short foot, Wide mouth, Median p... OMIM:619758
Fibulo-Ulnar Hypoplasia-Renal Anomalies Syndrome
Hypoplasia of the ulna, Finger syndactyly, Hypoplasia of penis, Ventricular septal defect, Aplasi... ORPHA:2256
Neurodevelopmental Disorder With Intention Tremor, Pyramidal Signs, Dyspraxia, And Ocular Anomalies
Ventricular septal defect, Dextrotransposition of the great arteries, Lateral ventricle dilatatio... OMIM:619995
20P13 Microdeletion Syndrome
Finger syndactyly, Thin upper lip vermilion, Tented upper lip vermilion, Polydactyly, Clinodactyl... ORPHA:313781
Spondyloepimetaphyseal Dysplasia, Krakow Type
Atrial septal defect, Rhizomelia, Ulnar deviation of the wrist, Patent ductus arteriosus, Hydroce... OMIM:618162
Galloway-Mowat Syndrome 7
Hallux valgus, Arachnodactyly, Single transverse palmar crease, Ventricular septal defect, Cleft ... OMIM:618348
Chromosome 9P Deletion Syndrome
High, narrow palate, Deep philtrum, High palate, Atrial septal defect, Micropenis, Long toe, Hypo... OMIM:158170
Ritscher-Schinzel Syndrome 3
Hypoplasia of the ulna, Thin upper lip vermilion, Cryptorchidism, Ulnar bowing, Shortening of all... OMIM:619135
Diastrophic Dysplasia
Abnormal clavicle morphology, Bowing of the long bones, Camptodactyly of finger, Proximal placeme... ORPHA:628
Aortic Aneurysm, Familial Thoracic 9
Thoracic aortic aneurysm, Arachnodactyly, Mitral valve prolapse, High palate, Ascending aortic di... OMIM:616166
Kbg Syndrome
Thin upper lip vermilion, Macrodontia, Single transverse palmar crease, Cryptorchidism, Congenita... ORPHA:2332
Fanconi Anemia, Complementation Group S
Macrodontia, Proximal placement of thumb, Dental malocclusion, Narrow palate, Ovarian neoplasm, O... OMIM:617883
Thoc6-Related Developmental Delay-Microcephaly-Facial Dysmorphism Syndrome
Ventriculomegaly, Overlapping toe, Hypospadias, Endometriosis, Abnormality of the dentition, Cari... ORPHA:363444
Rubinstein-Taybi Syndrome 2
Syndactyly, Broad hallux, Intestinal malrotation, Carious teeth, Talon cusp, Dental malocclusion,... OMIM:613684
Bartsocas-Papas Syndrome 1
Bilateral cryptorchidism, Hypoplastic iliac wing, Micropenis, Patent foramen ovale, Short phalanx... OMIM:263650
Intellectual Disability-Craniofacial Dysmorphism-Cryptorchidism Syndrome
Atrial septal defect, Thin upper lip vermilion, Bicuspid aortic valve, Single transverse palmar c... ORPHA:329224
Craniotelencephalic Dysplasia
Microphthalmia, Frontal encephalocele, Optic nerve hypoplasia OMIM:218670
Nephronophthisis 15
Polydactyly OMIM:614845
Methylmalonate Semialdehyde Dehydrogenase Deficiency
Tented upper lip vermilion, Broad hallux, Single transverse palmar crease, Lateral ventricle dila... OMIM:614105
Prune Belly Syndrome
Recurrent respiratory infections, Congenital hip dislocation, Ventricular septal defect, Intestin... ORPHA:2970
Bardet-Biedl Syndrome 20
Postaxial polydactyly, Bilateral cryptorchidism, Postaxial hand polydactyly, 2-3 toe syndactyly, ... OMIM:619471
Arterial Tortuosity Syndrome
Coxa vara, Clinodactyly of the 5th finger, Arachnodactyly, Hiatus hernia, Pulmonary artery stenos... ORPHA:3342
Spondyloepimetaphyseal Dysplasia, Missouri Type
Radial bowing, Rhizomelia, Ulnar bowing, Flared metaphysis, Coxa vara, Tibial bowing, Femoral bow... OMIM:602111
Vacterl Association With Hydrocephalus
Absent thumb, Aqueductal stenosis, Radial club hand, Hydrocephalus, Abnormal heart morphology, An... OMIM:276950
Fanconi Anemia, Complementation Group J
Microphthalmia, Short thumb OMIM:609054
Grant Syndrome
Bowing of the long bones, Abnormal rib morphology, Abnormal pelvic girdle bone morphology, Narrow... ORPHA:2097
Rapp-Hodgkin Syndrome
Syndactyly, Hypospadias, Conical tooth, Cleft upper lip, Carious teeth, 2-3 toe cutaneous syndact... OMIM:129400
Congenital Toxoplasmosis
Microphthalmia, Hydrocephalus, Ventriculomegaly, Cardiomegaly ORPHA:858
Brachydactyly Type B2
Type B brachydactyly, Finger syndactyly, Short toe, Symphalangism affecting the phalanges of the ... ORPHA:140908
Trigonocephaly With Short Stature And Developmental Delay
Clinodactyly of the 5th finger, High palate, Ventricular septal defect, Broad alveolar ridges OMIM:314320
Cortical Blindness-Intellectual Disability-Polydactyly Syndrome
Recurrent respiratory infections, Postaxial hand polydactyly, Abnormal palate morphology, Long ph... ORPHA:1389
Waardenburg Syndrome Type 3
Tented upper lip vermilion, Camptodactyly of finger, Atelectasis, Abnormal finger morphology, Cut... ORPHA:896
Van Der Woude Syndrome 1
Cleft upper lip, Lower lip pit, Cleft palate, Hypodontia, Bifid uvula OMIM:119300
Developmental Delay With Variable Neurologic And Brain Abnormalities
Down-sloping shoulders, Cubitus valgus, Widely spaced teeth, Camptodactyly, Microdontia, Micropht... OMIM:619694
Isolated Osteopoikilosis
Syndactyly, Abnormal pelvis bone morphology, Abnormal pelvis bone ossification, Abnormal femur mo... ORPHA:166119
Multinucleated Neurons, Anhydramnios, Renal Dysplasia, Cerebellar Hypoplasia, And Hydranencephaly
Hydranencephaly, Arthrogryposis multiplex congenita, Pulmonary hypoplasia OMIM:236500
H Syndrome
Hallux valgus, Cleft upper lip, Malabsorption, Recurrent pharyngitis, Hydrocephalus, Gingival ove... ORPHA:168569
10Q22.3Q23.3 Microduplication Syndrome
Abnormality of the philtrum, Hypospadias, Abnormality of the dentition, Ambiguous genitalia, Tetr... ORPHA:276422
Nphp3-Related Meckel-Like Syndrome
Pulmonary hypoplasia ORPHA:3032
Weaver Syndrome
Finger syndactyly, Hypoplasia of penis, Sandal gap, Camptodactyly of finger, Cryptorchidism, Deep... ORPHA:3447
Steinfeld Syndrome
Hypoplasia of the ulna, Aplasia/Hypoplasia of the thumb, Hypoplasia of the radius, Abnormal heart... OMIM:184705
Monosomy 18Q
Abnormal palmar dermatoglyphics, Secundum atrial septal defect, Bilateral cryptorchidism, Downtur... ORPHA:1600
Ververi-Brady Syndrome
Thin upper lip vermilion, Wide mouth, High palate, Transposition of the great arteries, Metaphyse... OMIM:617982
Multiple Synostoses Syndrome 1
Single transverse palmar crease, Symphalangism affecting the phalanges of the hand, Cutaneous fin... OMIM:186500
Intellectual Developmental Disorder, Autosomal Dominant 66
Arachnodactyly, Secundum atrial septal defect, Aortic root aneurysm, Transposition of the great a... OMIM:619910
Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts
Microphthalmia, Ventricular septal defect, Ventriculomegaly, Cryptorchidism OMIM:613730
Supravalvular Aortic Stenosis
Pulmonary artery stenosis, Peripheral arterial stenosis, Pulmonic stenosis OMIM:185500
Early-Onset Seizures-Distal Limb Anomalies-Facial Dysmorphism-Global Developmental Delay Syndrome
Hyperextensibility of the finger joints, Thin upper lip vermilion, Toe syndactyly, Arachnodactyly... ORPHA:505237
Congenital Fibrinogen Deficiency
Hemorrhagic ovarian cyst, Micropenis, Clubbing of fingers, Gingival bleeding, Left ventricular hy... ORPHA:335
Eem Syndrome
Finger syndactyly, Abnormal dental morphology, Selective tooth agenesis, Carious teeth, Ectrodact... ORPHA:1897
Maternal Uniparental Disomy Of Chromosome 6
Ventriculomegaly, Cleft upper lip, Cleft palate, Hydrocele testis, Slender long bone, Clitoral hy... ORPHA:96181
Hirschsprung Disease, Cardiac Defects, And Autonomic Dysfunction
Aganglionic megacolon, Ventricular septal defect, Tapered finger, Patent ductus arteriosus, Inter... OMIM:613870
Dyggve-Melchior-Clausen Disease
Metaphyseal widening, Flat glenoid fossa, Short metatarsal, Tibial bowing, Femoral bowing, Pectus... OMIM:223800
Zechi-Ceide Syndrome
Sandal gap, Cleft lip, Short metatarsal, Cleft palate, Abnormal heart morphology, Downturned corn... ORPHA:217017
Acro-Renal-Mandibular Syndrome
Abnormal lung lobation, Pulmonary hypoplasia, Congenital diaphragmatic hernia ORPHA:958
Cranioectodermal Dysplasia
Finger syndactyly, Brachydactyly, Rhizomelia, Abnormal dental enamel morphology, Abnormality of t... ORPHA:1515
Oculocerebrocutaneous Syndrome
Hydrocephalus, Congenital diaphragmatic hernia ORPHA:1647
Lissencephaly 8
Microphthalmia, Occipital encephalocele, Talipes equinovarus, Ventriculomegaly OMIM:617255
Hand-Foot-Genital Syndrome
Shortening of all middle phalanges of the fingers, Ventricular septal defect, Hypospadias, Short ... ORPHA:2438
Craniofacial Microsomia 1
Occipital encephalocele, Anophthalmia, Ventricular septal defect, Cleft upper lip, Partial duplic... OMIM:164210
Chondrodysplasia Punctata 2, X-Linked Dominant
Ventriculomegaly, Rhizomelia, Postaxial polydactyly, Epiphyseal stippling, Abnormal pelvic girdle... OMIM:302960
Opitz Gbbb Syndrome
Thin upper lip vermilion, Ventricular septal defect, Hypospadias, Cleft upper lip, Rectourethral ... OMIM:300000
Growth Delay-Hydrocephaly-Lung Hypoplasia Syndrome
Bowing of the long bones, Radial bowing, Aqueductal stenosis, Abnormal rib morphology, Abnormal f... ORPHA:3035
Thalidomide Embryopathy
Aplasia/Hypoplasia of the thumb, Aplasia/hypoplasia of the humerus, Preaxial hand polydactyly, Ra... ORPHA:3312
Doors Syndrome
Short lingual frenulum, Abnormal finger morphology, Downturned corners of mouth, Widely spaced te... ORPHA:79500
Monosomy 5P
Finger syndactyly, High palate, Small hand ORPHA:281
Orofaciodigital Syndrome Type 4
Abnormal oral mucosa morphology, Micromelia, High, narrow palate, Abnormality of the gingiva, Oro... ORPHA:2753
Microphthalmia, Syndromic 5
Anophthalmia, Optic nerve hypoplasia, Cryptorchidism, Cleft palate, Microphthalmia, Micropenis OMIM:610125
Chudley-Mccullough Syndrome
Hydrocephalus, Ventriculomegaly OMIM:604213
Scalp Defects-Postaxial Polydactyly Syndrome
Encephalocele, Postaxial polydactyly type A ORPHA:1003
Spondylocostal Dysostosis With Anal Atresia And Urogenital Anomalies
Missing ribs, Rib fusion, Thin ribs, Short ribs, Oligohydramnios OMIM:271520
Subaortic Stenosis-Short Stature Syndrome
Membranous subvalvular aortic stenosis, Subvalvular aortic stenosis, Microdontia, Microphthalmia,... ORPHA:3191
Retinal Degeneration-Nanophthalmos-Glaucoma Syndrome
Microphthalmia ORPHA:1574
Tetraamelia-Multiple Malformations Syndrome
Septo-optic dysplasia, Cryptorchidism, Hydrocephalus, Abnormal lung lobation, Orofacial cleft, Ap... ORPHA:3301
Ring Chromosome 10 Syndrome
Aganglionic megacolon, Sandal gap, Tapered finger, Thin vermilion border, Long philtrum, Micropht... ORPHA:1438
Ataxia-Telangiectasia-Like Disorder 2
Joint contracture, Congenital diaphragmatic hernia OMIM:615919
Stankiewicz-Isidor Syndrome
Ventricular septal defect, Hypospadias, Absent thumb, Short thumb, Patent ductus arteriosus, Cryp... OMIM:617516
Isolated Klippel-Feil Syndrome
Abnormal shoulder morphology, Sprengel anomaly, Abnormal rib morphology, Spina bifida ORPHA:2345
Acro-Renal-Ocular Syndrome
Hypoplasia of the ulna, Finger syndactyly, Broad hallux phalanx, Toe syndactyly, Abnormal morphol... ORPHA:959
Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Anomalies
Ventriculomegaly, Tented upper lip vermilion, Rocker bottom foot, Single transverse palmar crease... OMIM:617527
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate Syndrome
Delayed eruption of teeth, Finger syndactyly, Ventricular septal defect, Abnormal dental enamel m... ORPHA:1071
Postaxial Acrofacial Dysostosis
Syndactyly, Hypoplasia of the ulna, Congenital hip dislocation, Conical tooth, Cleft upper lip, S... OMIM:263750
Blepharophimosis-Intellectual Disability Syndrome, Ohdo Type
Small scrotum, Abnormal palmar dermatoglyphics, Microdontia, Cryptorchidism, Cleft palate, Hypopl... ORPHA:2728
Cutis Laxa, Autosomal Recessive, Type Iie
Syndactyly, Thick lower lip vermilion, Genu varum, Hip dislocation, Deep palmar crease, High pala... OMIM:619451
9Q21.13 Microdeletion Syndrome
Cryptorchidism, Abnormal tongue morphology, Abnormal heart morphology, Downturned corners of mout... ORPHA:531151
Agnathia-Otocephaly Complex
Secundum atrial septal defect, Holoprosencephaly, Pulmonary hypoplasia, Situs inversus totalis OMIM:202650
Fanconi Anemia, Complementation Group R
Tethered cord, Absent thumb, Hydrocephalus, Microphthalmia, Radial dysplasia OMIM:617244
Congenital Heart Defects, Multiple Types, 2
Bicuspid aortic valve, Ventricular septal defect, Myxomatous mitral valve degeneration, Subvalvul... OMIM:614980
Chromosome 13Q14 Deletion Syndrome
Thin upper lip vermilion, Overlapping toe, Single transverse palmar crease, Ventricular septal de... OMIM:613884
Chromosome 17Q11.2 Duplication Syndrome, 1.4-Mb
Thin upper lip vermilion, Hypospadias, Unilateral microphthalmos, Mitral valve prolapse, Bilatera... OMIM:618874
Contractural Arachnodactyly, Congenital
Hip contracture, Bowing of the long bones, Arachnodactyly, Bicuspid aortic valve, Ventricular sep... OMIM:121050
Atelosteogenesis, Type I
Polyhydramnios, Short metatarsal, Tibial bowing, Narrow chest, Neonatal death, Encephalocele, Sho... OMIM:108720
Mitochondrial Complex Iv Deficiency, Nuclear Type 10
Single transverse palmar crease, Increased CSF lactate, High palate, Microphthalmia, Hypertrophic... OMIM:619053
Osteogenesis Imperfecta, Type Ii
Crumpled long bones, Broad long bones, Nonimmune hydrops fetalis, Beaded ribs, Tibial bowing, Thi... OMIM:166210
Intellectual Developmental Disorder, Autosomal Dominant 44, With Microcephaly
Atrial septal defect, Scapular winging, Thin upper lip vermilion, Sandal gap, Single transverse p... OMIM:617061
Cutis Laxa, Autosomal Recessive, Type Ic
Posterolateral diaphragmatic hernia, Inguinal hernia, Morgagni diaphragmatic hernia, Atelectasis,... OMIM:613177
Micrognathia-Recurrent Infections-Behavioral Abnormalities-Mild Intellectual Disability Syndrome
Dental crowding, Abnormality of the hand, Tapered finger, Unilateral radial aplasia, Partial abse... ORPHA:476126
Digeorge Syndrome
Ventricular septal defect, High, narrow palate, Patent ductus arteriosus, Atelectasis, Recurrent ... OMIM:188400
Neurodevelopmental Disorder With Cataracts, Poor Growth, And Dysmorphic Facies
Overlapping toe, Cleft lip, Deep philtrum, Cleft palate, Abnormal heart morphology, Downturned co... OMIM:618571
Desbuquois Syndrome
Ventricular septal defect, Camptodactyly of finger, Coxa valga, Elbow dislocation, Small hand, Co... ORPHA:1425
Split-Hand/Foot Malformation 2
Finger syndactyly, Short metacarpal, Split hand, Split foot, Short phalanx of finger OMIM:313350
19Q13.11 Microdeletion Syndrome
Bifid scrotum, Finger syndactyly, Recurrent respiratory infections, Toe syndactyly, Congenital hi... ORPHA:217346
Trigonocephaly-Short Stature-Developmental Delay Syndrome
Broad secondary alveolar ridge, High palate, Ventricular septal defect, Fifth finger distal phala... ORPHA:3369
Hyposmia-Nasal And Ocular Hypoplasia-Hypogonadotropic Hypogonadism Syndrome
Hypoplasia of penis, Anophthalmia, Failure of eruption of permanent teeth, External genital hypop... ORPHA:2250
Distal 22Q11.2 Microdeletion Syndrome
High, narrow palate, Short palm, Atrial septal defect, Clinodactyly of the 5th finger, Branchial ... ORPHA:261330
Vertebral Anomalies And Variable Endocrine And T-Cell Dysfunction
Cleft lip, Patent ductus arteriosus, Narrow palate, Cleft palate, Contracture of the proximal int... OMIM:618223
Nanophthalmos 4
Microphthalmia OMIM:615972
Neurocardiofaciodigital Syndrome
Dilated fourth ventricle, Syndactyly, Patent ductus arteriosus, Double inlet left ventricle, Thin... OMIM:619869
Hypogonadism, Male, With Mental Retardation And Skeletal Anomalies
Superior rib anomalies OMIM:307500
Greenberg Dysplasia
Micromelia, Beaded ribs, Polyhydramnios, Hydrops fetalis, Tetraphocomelia, Hypoplasia of the calc... OMIM:215140
Tremor, Hereditary Essential, And Idiopathic Normal Pressure Hydrocephalus
Normal pressure hydrocephalus, Ventriculomegaly OMIM:611808
Nager Syndrome
Aplasia/Hypoplasia of the thumb, Non-midline cleft lip, Hypoplasia of the radius, Cleft palate, W... ORPHA:245
Cortical Dysplasia, Complex, With Other Brain Malformations 11
Ventriculomegaly, High, narrow palate, Hydrocephalus, Ileus, Colpocephaly, High palate, Short phi... OMIM:620156
Congenital Osteogenesis Imperfecta-Microcephaly-Cataracts Syndrome
Hypoplasia of penis, Ventricular septal defect, Micromelia, Cryptorchidism, Hypoplastic left hear... ORPHA:2772
Chromosome 22Q11.2 Deletion Syndrome, Distal
Smooth philtrum, Thin upper lip vermilion, Truncus arteriosus, Cleft palate OMIM:611867
Developmental And Epileptic Encephalopathy 66
Atrial septal defect, Thin upper lip vermilion, Ventricular septal defect, Dextrocardia, Cryptorc... OMIM:618067
Desmosterolosis
Rhizomelia, Patent ductus arteriosus, Hydrocephalus, Ambiguous genitalia, female, Alveolar ridge ... OMIM:602398
Pseudoachondroplasia
Spatulate ribs, Delayed epiphyseal ossification, Metaphyseal widening, Fragmented, irregular epip... OMIM:177170
Oculoauriculofrontonasal Syndrome
Encephalocele, Ventricular septal defect, Cleft lip, Cleft palate, Narrow mouth, Broad philtrum ORPHA:398156
Acrorenal Syndrome
Abnormal morphology of ulna, Abnormal tibia morphology, Split hand, Cleft palate, Aplasia/Hypopla... ORPHA:971
1P36 Deletion Syndrome
11 pairs of ribs, Camptodactyly of finger, Rib fusion, Short foot, Hip dysplasia, Foot polydactyl... ORPHA:1606
Chromosome 5Q12 Deletion Syndrome
Long toe, Ventricular septal defect, Long fingers, Patent ductus arteriosus, Wide mouth, Macroglo... OMIM:615668
Dyssegmental Dysplasia, Rolland-Desbuquois Type
Encephalocele, Bowing of the long bones, Broad long bones, Micromelia, Metaphyseal widening, Hydr... OMIM:224400
Peters Plus Syndrome
Micromelia, Bicuspid pulmonary valve, Abnormal pulmonary vein morphology, Clitoral hypoplasia, Wi... ORPHA:709
Dystonia-Deafness Syndrome 1
Cleft palate, Hypoplastic scapulae, Femoral retroversion, Cleft upper lip OMIM:607371
Hennekam Lymphangiectasia-Lymphedema Syndrome 1
Rectal prolapse, Conical incisor, Oligodontia, Cutaneous finger syndactyly, Protein-losing entero... OMIM:235510
Antley-Bixler Syndrome Without Genital Anomalies Or Disordered Steroidogenesis
Arachnodactyly, Rocker bottom foot, Ulnar bowing, Humeroradial synostosis, Hydrocephalus, Femoral... OMIM:207410
Robinow Syndrome
Small scrotum, Dental crowding, External genital hypoplasia, Orofacial cleft, Clitoral hypoplasia... ORPHA:97360
Ectrodactyly-Polydactyly
Split hand, Postaxial hand polydactyly, Split foot OMIM:225290
Arrhinia-Choanal Atresia-Microphthalmia Syndrome
Hypogonadotropic hypogonadism, Cleft palate, Tooth agenesis, High palate, Microphthalmia ORPHA:1135
Aplasia Cutis Congenita
Finger syndactyly, Toe syndactyly, Spinal dysraphism ORPHA:1114
Otopalatodigital Syndrome Type 1
Bowing of the long bones, Sandal gap, Short hallux, Proximal placement of thumb, Abnormality of t... ORPHA:90650
Pfeiffer Syndrome Type 1
Broad hallux phalanx, Aplasia/Hypoplasia of the thumb, Finger syndactyly, Toe syndactyly, Short h... ORPHA:93258
Right Pulmonary Artery, Anomalous Origin Of, Familial
Ventricular septal defect, Patent ductus arteriosus, Coarctation of aorta, Patent foramen ovale, ... OMIM:610338
Craniofacial Dyssynostosis With Short Stature
Ventricular septal defect, Hypospadias, Pyloric stenosis, Patent ductus arteriosus, Hydrocephalus... OMIM:218350
Pfeiffer Syndrome
Finger syndactyly, Syndactyly, Shortening of all middle phalanges of the fingers, Broad hallux, D... OMIM:101600
Diffuse Gastric And Lobular Breast Cancer Syndrome
Stomach cancer, Atrophic gastritis, Cleft palate, Cleft upper lip OMIM:137215
Mitochondrial Complex Iii Deficiency, Nuclear Type 7
Cryptorchidism, Postaxial polydactyly, Increased CSF lactate OMIM:615824
Wolf-Hirschhorn Syndrome
Single transverse palmar crease, Orofacial cleft, Downturned corners of mouth, Short philtrum, At... OMIM:194190
Renal-Hepatic-Pancreatic Dysplasia 2
Truncus arteriosus, Situs inversus totalis, Abnormal lung lobation, Aortic valve stenosis, Pulmon... OMIM:615415
Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To 5Q31.3 Microdeletion
Tented upper lip vermilion, Deep philtrum, Recurrent pneumonia, Abnormal heart morphology, High p... ORPHA:314655
Insulin-Like Growth Factor I, Resistance To
Thin upper lip vermilion, Rieger anomaly, Sandal gap, Ventricular septal defect, Narrow mouth, Sm... OMIM:270450
Cockayne Syndrome Type 2
Anophthalmia, Delayed eruption of primary teeth, Cryptorchidism, Male hypogonadism, Widely spaced... ORPHA:90322
Microphthalmia, Syndromic 6
Finger syndactyly, Thumb contracture, Toe syndactyly, Anophthalmia, Single transverse palmar crea... OMIM:607932
Microphthalmia, Isolated 2
Microphthalmia OMIM:610093
1Q44 Microdeletion Syndrome
Ventriculomegaly, Exaggerated cupid's bow, Optic disc hypoplasia, Intestinal malrotation, Hydroce... ORPHA:238769
Mosaic Trisomy 14
Narrow chest, Abnormal rib morphology, Camptodactyly of finger, Bilateral single transverse palma... ORPHA:1703
Acrofacial Dysostosis, Weyers Type
Conical tooth, Abnormality of the dentition, Postaxial hand polydactyly, Small hand, Advanced eru... ORPHA:952
Amastia, Bilateral, With Ureteral Triplication And Dysmorphism
Syndactyly, Congenital hip dislocation, Patent ductus arteriosus, Hydrocephalus, Mitral valve pro... OMIM:104350
Intellectual Developmental Disorder With Dysmorphic Facies, Seizures, And Distal Limb Anomalies
Thin upper lip vermilion, Overlapping toe, Down-sloping shoulders, Ventricular septal defect, Tap... OMIM:617452
Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome
Microphthalmia, Hypogonadotropic hypogonadism, Camptodactyly of finger, Ventriculomegaly ORPHA:48431
Mullegama-Klein-Martinez Syndrome
Thin upper lip vermilion, Cleft lip, Cleft palate, Coarctation of aorta, Submucous cleft of soft ... OMIM:301022
Ciliary Dyskinesia, Primary, 20
Atrial situs inversus, Recurrent respiratory infections, Ventricular septal defect, Dextrocardia,... OMIM:615067
Gómez-López-Hernández Syndrome
Hydrocephalus, Thin vermilion border ORPHA:1532
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly
Thin upper lip vermilion, Ventriculomegaly, Ventricular septal defect, Thyroid lymphangiectasia, ... OMIM:235255
Short Stature-Micrognathia Syndrome
Small scrotum, Rhizomelia, Ventricular septal defect, Penoscrotal hypospadias, Bowing of the legs... OMIM:617164
Cataract 11, Multiple Types
Microphthalmia OMIM:610623
Megabladder, Congenital
Ventricular septal defect, Bicuspid aortic valve, Left ventricular noncompaction cardiomyopathy, ... OMIM:618719
Cleft Lip/Palate-Deafness-Sacral Lipoma Syndrome
Non-midline cleft lip, Meningocele, Hip dislocation, Bilateral cleft lip and palate, Tooth agenesis ORPHA:2003
Syndactyly-Telecanthus-Anogenital And Renal Malformations Syndrome
Thin upper lip vermilion, Clitoral hypertrophy, Toe syndactyly, Mitral atresia, Pulmonary artery ... ORPHA:140952
8Q24.3 Microdeletion Syndrome
Branchial cyst, Congenital hip dislocation, Single transverse palmar crease, Micromelia, Abnormal... ORPHA:508488
Mosaic Variegated Aneuploidy Syndrome
Intestinal polyposis, Atrial septal defect, Ventriculomegaly, Ambiguous genitalia, Vaginal neopla... ORPHA:1052
Femur-Fibula-Ulna Complex
Short humerus, Finger syndactyly, Abnormal morphology of ulna, Micromelia, Humeroradial synostosi... ORPHA:2019
Hypoparathyroidism-Retardation-Dysmorphism Syndrome
Thin upper lip vermilion, Cryptorchidism, Small hand, Short foot, Thin vermilion border, Short pa... OMIM:241410
Developmental Delay With Variable Intellectual Disability And Dysmorphic Facies
Exaggerated cupid's bow, Single transverse palmar crease, Cleft lip, Deep philtrum, 2-3 toe synda... OMIM:620098
Encephalocraniocutaneous Lipomatosis
Coarctation of aorta, Abnormal aortic morphology, Interrupted aortic arch, Tricuspid valve prolap... ORPHA:2396
Summitt Syndrome
Syndactyly OMIM:272350
Cardiac Valvular Dysplasia 1
Ventricular septal defect, Left atrial enlargement, Tricuspid stenosis, Valvular pulmonary stenos... OMIM:212093
Craniofacial Dysplasia-Short Stature-Ectodermal Anomalies-Intellectual Disability Syndrome
Hydrocephalus, Small hand, Cleft palate, Widely spaced teeth, Camptodactyly, Atrial septal defect... ORPHA:459061
Intellectual Developmental Disorder, X-Linked, Syndromic, Lujan-Fryns Type
Hyperextensibility of the finger joints, Thin upper lip vermilion, Macroorchidism, Ventricular se... OMIM:309520
19P13.12 Microdeletion Syndrome
Short palm, Finger syndactyly, Atrial septal defect, Sandal gap, Ventricular septal defect, Hypos... ORPHA:254346
Microphthalmia, Isolated, With Coloboma 7
Microphthalmia OMIM:614497
22Q11.2 Deletion Syndrome
Abnormal lung lobation, Abnormal aortic arch morphology, Short philtrum, Abnormality of the uteru... ORPHA:567
Cenani-Lenz Syndactyly Syndrome
Syndactyly, Hypoplasia of the ulna, Premature loss of permanent teeth, Broad hallux, Hypoplasia o... OMIM:212780
Monosomy 9Q22.3
Delayed eruption of teeth, Odontogenic keratocysts of the jaw, Ovarian fibroma, Palmar pits, Narr... ORPHA:77301
Müllerian Duct Anomalies-Limb Anomalies Syndrome
Short humerus, Hypoplasia of penis, Micromelia, Postaxial hand polydactyly, Split hand, Abnormali... ORPHA:2491
Chondrodysplasia, Blomstrand Type
Micromelia, Squared iliac bones, Flared metaphysis, Advanced ossification of carpal bones, Advanc... OMIM:215045
Left Ventricular Noncompaction 1
Noncompaction cardiomyopathy, Ventricular septal defect, Left ventricular noncompaction cardiomyo... OMIM:604169
Microphthalmia, Syndromic 3
Optic nerve aplasia, Anophthalmia, Ventricular septal defect, Optic nerve hypoplasia, Hypogonadot... OMIM:206900
Frontorhiny
Encephalocele, Camptodactyly of finger, Cleft palate, Finger clinodactyly, Basal encephalocele, C... ORPHA:391474
Baraitser-Winter Syndrome 2
Thin upper lip vermilion, Orofacial cleft, Wide mouth, Long philtrum, Microphthalmia, Ventriculom... OMIM:614583
Isolated Cleft Lip
Macrodontia, Bilateral cleft lip, Situs inversus totalis, Velopharyngeal insufficiency, Non-midli... ORPHA:199302
Diamond-Blackfan Anemia 1
Ventricular septal defect, Tricuspid stenosis, Absent thumb, Hypoplastic ilia, Short thumb, Parti... OMIM:105650
Double Outlet Left Ventricle
Double outlet left ventricle, Ventricular septal defect, Abnormal coronary artery course, Cardiom... ORPHA:3427
Roberts-Sc Phocomelia Syndrome
Tetraphocomelia, High palate, Atrial septal defect, Phocomelia, Wrist flexion contracture, Syndac... OMIM:268300
Epilepsy, Early-Onset, 4, Vitamin B6-Dependent
Hydrocephalus OMIM:266100
Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities
Hydrocephalus, Elbow flexion contracture OMIM:619470
Cat-Eye Syndrome
Hip dysplasia, Abnormal rib morphology ORPHA:195
Hydrocephalus-Costovertebral Dysplasia-Sprengel Anomaly Syndrome
Sandal gap, Hydrocephalus, Abnormal rib morphology, Sprengel anomaly, Brachydactyly ORPHA:2180
Proximal Symphalangism
Finger syndactyly, Brachydactyly, Camptodactyly of finger, Tarsal synostosis, Elbow dislocation, ... ORPHA:3250
Short Stature-Craniofacial Anomalies-Genital Hypoplasia Syndrome
Finger syndactyly, Arachnodactyly, Camptodactyly of finger, Abnormality of the dentition, Cleft p... ORPHA:2994
Proboscis Lateralis
Anophthalmia, Ventricular septal defect, Optic nerve hypoplasia, External genital hypoplasia, Age... ORPHA:141099
Corpus Callosum, Agenesis Of, With Facial Anomalies And Robin Sequence
Syndactyly, Hypospadias, Proximal placement of thumb, Cryptorchidism, Patent ductus arteriosus, P... OMIM:217980
Acrofrontofacionasal Dysostosis 1
Short metacarpal, Cleft upper lip, Cleft palate, Wide mouth, Oligodontia, Microphthalmia, Acetabu... OMIM:201180
Cornelia De Lange Syndrome 3 With Or Without Midline Brain Defects
Bicuspid aortic valve, Single transverse palmar crease, Proximal placement of thumb, Limited elbo... OMIM:610759
Phace Association
Anomalous branches of internal carotid artery, Ventricular septal defect, Optic nerve hypoplasia,... OMIM:606519
Imperforate Oropharynx-Costovertebral Anomalies Syndrome
Long palm, Arachnodactyly, Polyhydramnios, Missing ribs, Abnormal rib morphology, Clinodactyly of... ORPHA:2759
Peters-Plus Syndrome
Hypoplasia of the vagina, Short lingual frenulum, Single transverse palmar crease, Limited elbow ... OMIM:261540
Laurence-Moon Syndrome
Micropenis, Small scrotum, Polydactyly, Abnormality of the hand OMIM:245800
Branchio-Oculo-Facial Syndrome
Preaxial hand polydactyly, Deep philtrum, Non-midline cleft lip, Orofacial cleft, Tooth agenesis,... ORPHA:1297
Hartsfield Syndrome
Syndactyly, Median cleft lip, Hypospadias, Cleft upper lip, Alobar holoprosencephaly, Cryptorchid... OMIM:615465
Spondyloperipheral Dysplasia-Short Ulna Syndrome
Hypoplasia of the ulna, Broad hallux, Limited elbow extension, Short metatarsal, Flattened epiphy... ORPHA:1856
Chromosome 1P36 Deletion Syndrome, Distal
11 pairs of ribs, Camptodactyly of finger, Metatarsus adductus, Hydrocephalus, Rib fusion, Short ... OMIM:607872
Jacobsen Syndrome
Atrial septal defect, Recurrent respiratory infections, Ventricular septal defect, Hypospadias, P... OMIM:147791
Alagille Syndrome
Hypoplasia of the ulna, Atrial septal defect, Ventricular septal defect, Cryptorchidism, Short ph... ORPHA:52
Hydrocephalus, Autosomal Dominant
Hydrocephalus, Dandy-Walker malformation OMIM:123155
X-Linked Female Restricted Facial Dysmorphism-Short Stature-Choanal Atresia-Intellectual Disability
Congenital hip dislocation, Abnormal periodontium morphology, High palate, Atrial septal defect, ... ORPHA:480880
Microcephaly-Capillary Malformation Syndrome
Ventricular septal defect, Cleft palate, Extra-axial cerebrospinal fluid accumulation, Right vent... OMIM:614261
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 1
Atrial septal defect, Pulmonary hypoplasia, Congenital diaphragmatic hernia OMIM:614080
Pallister-Hall Syndrome
Small scrotum, Abnormal lung lobation, Holoprosencephaly, Atrial septal defect, Atrioventricular ... ORPHA:672
Microcephaly And Chorioretinopathy, Autosomal Recessive, 2
Microphthalmia, Talipes equinovarus OMIM:616171
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 3
Cryptorchidism, Hypospadias, Polydactyly, Hypoplastic ischia OMIM:616910
Marfan Syndrome
Bicuspid aortic valve, Dental crowding, Equinus calcaneus, Increased axial length of the globe, H... OMIM:154700
Hydrocephaly-Low Insertion Umbilicus Syndrome
Communicating hydrocephalus, Patent ductus arteriosus, Tetralogy of Fallot, Anomalous pulmonary v... ORPHA:2184
Congenital Disorder Of Glycosylation, Type Iid
Hydrocephalus, Dandy-Walker malformation OMIM:607091
Absence Of The Pulmonary Artery
Recurrent respiratory infections, Abnormal hemidiaphragm morphology, Cardiomegaly, Recurrent pneu... ORPHA:980
Clubfoot, Congenital, With Or Without Deficiency Of Long Bones And/Or Mirror-Image Polydactyly
Mirror image foot polydactyly, Preaxial foot polydactyly, Patellar hypoplasia, Stillbirth, Bilate... OMIM:119800
Myoclonic-Astatic Epilepsy
Syndactyly, Thin upper lip vermilion, Thick lower lip vermilion, Wide mouth, Long philtrum, Micro... ORPHA:1942
Fanconi Anemia, Complementation Group F
Pneumonia, Absent thumb, Short thumb, Patent ductus arteriosus, Hypoplasia of the radius, 2-3 fin... OMIM:603467
Viss Syndrome
Chronic gastritis, Epidural hemorrhage, Tortuous cerebral arteries, High, narrow palate, Right ve... OMIM:619472
Joubert Syndrome 27
Thick lower lip vermilion, Polydactyly OMIM:617120
X Small Rings
Thin upper lip vermilion, Toe syndactyly, Bicuspid aortic valve, Ventricular septal defect, Taper... ORPHA:96201
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 2
Encephalocele, Cleft upper lip, Hydrocephalus, Cleft palate, Buphthalmos, Macroglossia, Microphth... OMIM:613150
Lethal Kniest-Like Dysplasia
Abnormal ischium morphology, Broad long bones, Anterior rib cupping, Edema, Mesomelic/rhizomelic ... ORPHA:2347
Van Esch-O'Driscoll Syndrome
Atrial septal defect, Ventricular septal defect, Hypogonadotropic hypogonadism, Esophageal atresi... OMIM:301030
Microphthalmia, Isolated, With Coloboma 3
Microphthalmia OMIM:610092
Pai Syndrome
Encephalocele, Median cleft lip, Cleft palate, Abnormal oral frenulum morphology, Bifid uvula ORPHA:1993
Trisomy 9P
Dental crowding, Bilateral single transverse palmar creases, Non-midline cleft lip, Impacted toot... ORPHA:236
Joubert Syndrome With Ocular Defect
Encephalocele, Aganglionic megacolon, Dextrocardia, Hydrocephalus, Cleft palate, Orofacial cleft,... ORPHA:220493
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome
Tented upper lip vermilion, High palate, Atrial septal defect, Patent foramen ovale, Prominent pa... ORPHA:280633
Wolf-Hirschhorn Syndrome
Hypoplastic pubic ramus, Downturned corners of mouth, Short philtrum, Atrial septal defect, Arach... ORPHA:280
Myhre Syndrome
Short philtrum, Hypoplastic iliac wing, Atrial septal defect, Pericardial effusion, Cleft lip, Sh... OMIM:139210
Diets-Jongmans Syndrome
Umbilical hernia, Inguinal hernia, Ventricular septal defect, Congenital diaphragmatic hernia OMIM:618846
Weill-Marchesani Syndrome
Ventricular septal defect, Short thumb, Pulmonic stenosis, Aortic valve stenosis, Brachydactyly ORPHA:3449
Filippi Syndrome
Enlarged epiphyses, Finger syndactyly, Ventricular septal defect, Cryptorchidism, Thin vermilion ... ORPHA:3255
Blepharocheilodontic Syndrome 2
Tooth agenesis, Cleft lip, Conical tooth, Cutaneous syndactyly OMIM:617681
Oculodentodigital Dysplasia, Autosomal Recessive
Delayed eruption of teeth, Broad long bones, Dental crowding, Fifth finger distal phalanx clinoda... OMIM:257850
Craniosynostosis, Philadelphia Type
Finger syndactyly ORPHA:1527
Treacher-Collins Syndrome
Encephalocele, Branchial fistula, Hypoplasia of penis, Small scrotum, Abnormal dental morphology,... ORPHA:861
Intellectual Developmental Disorder With Behavioral Abnormalities And Craniofacial Dysmorphism With Or Without Seizures
Clinodactyly of the 5th finger, Syndactyly, Tapered finger OMIM:618725
Rubinstein-Taybi Syndrome 1
Dental crowding, Single transverse palmar crease, Premature thelarche, Bilateral cryptorchidism, ... OMIM:180849
Mend Syndrome
Overlapping toe, Broad hallux, Long fingers, Hydrocephalus, Cryptorchidism, 2-3 toe syndactyly, P... OMIM:300960
Brachydactyly, Type B2
Tarsal synostosis, Proximal placement of thumb, Aplasia/Hypoplasia of the distal phalanges of the... OMIM:611377
Hamel Cerebro-Palato-Cardiac Syndrome
Atrial septal defect, Arachnodactyly, Cleft palate, Narrow mouth ORPHA:93946
Acromesomelic Dysplasia, Grebe Type
Aplasia/Hypoplasia of the thumb, Bowing of the long bones, Brachydactyly, Tarsal synostosis, Micr... ORPHA:2098
Acromesomelic Dysplasia 2A
Hypoplasia of the ulna, Short humerus, Short femur, Aplasia/Hypoplasia of the patella, Postaxial ... OMIM:200700
Orofaciodigital Syndrome X
Coalescence of tarsal bones, Preaxial hand polydactyly, Hand oligodactyly, Cleft palate, Fibular ... OMIM:165590
Spondylometaphyseal Dysplasia, Algerian Type
Metaphyseal dysplasia, Bowed humerus, Anterior rib cupping, Short tubular bones of the hand, Tibi... OMIM:184253
De Barsy Syndrome
Delayed eruption of teeth, Recurrent sinopulmonary infections, Congenital hip dislocation, Ventri... ORPHA:2962
8Q21.11 Microdeletion Syndrome
Finger syndactyly, Hypoplasia of penis, Exaggerated cupid's bow, Camptodactyly of finger, Abnorma... ORPHA:284160
Thrombocytopenia-Absent Radius Syndrome
Femoral bowing, Abnormal shoulder morphology, Clinodactyly of the 5th finger, Phocomelia, Atrial ... OMIM:274000
Simpson-Golabi-Behmel Syndrome
Hypoplasia of penis, Congenital hip dislocation, High, narrow palate, Atrial septal defect, Clino... ORPHA:373
Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome Due To 10P11.21P12.31 Microdeletion
Ventricular hypertrophy, Ventricular septal defect, Bicuspid aortic valve, Celiac disease, Absent... ORPHA:284169
Microphthalmia, Syndromic 1
Anophthalmia, Bicuspid aortic valve, Abnormal palmar dermatoglyphics, Dental crowding, High, narr... OMIM:309800
Ciliary Dyskinesia, Primary, 30
Recurrent respiratory infections, Ventricular septal defect, Dextrocardia, Situs inversus totalis... OMIM:616037
19P13.3 Microduplication Syndrome
Ventricular septal defect, Unilateral cryptorchidism, Precocious puberty, Long fingers, Hip dislo... ORPHA:447980
Fibrochondrogenesis
Hypoplastic scapulae, Camptodactyly of finger, Micromelia, Abnormal rib morphology, Bell-shaped t... ORPHA:2021
Fanconi Anemia, Complementation Group I
Ventricular septal defect, Optic nerve hypoplasia, Absent thumb, Short thumb, Patent foramen oval... OMIM:609053
Microphthalmia, Syndromic 16
Microphthalmia, Anophthalmia OMIM:611038
Acrofrontofacionasal Dysostosis 2
Bifid scrotum, Syndactyly, Broad hallux, Hypospadias, Hand polydactyly, High palate, Shawl scrotu... OMIM:239710
Mandibulofacial Dysostosis, Guion-Almeida Type
Ventricular septal defect, Proximal placement of thumb, Preaxial hand polydactyly, Deep philtrum,... OMIM:610536
Lethal Intrauterine Growth Restriction-Cortical Malformation-Congenital Contractures Syndrome
Multiple joint contractures, Camptodactyly of finger, Abnormal pleura morphology, Aplasia/Hypopla... ORPHA:2570
Heterotaxy, Visceral, 2, Autosomal
Dextrocardia, Intestinal malrotation, Situs inversus totalis, Atrioventricular canal defect, Left... OMIM:605376
Ectodermal Dysplasia With Facial Dysmorphism And Acral, Ocular, And Brain Anomalies
Brachydactyly, Sandal gap, Broad hallux, Conical tooth, Persistence of primary teeth, Dental malo... OMIM:618727
Hypophosphatasia
Bowing of the long bones, Abnormal metaphysis morphology, Abnormal rib morphology, Narrow chest ORPHA:436
Auricular Abnormalities-Cleft Lip With Or Without Cleft Palate-Ocular Abnormalities Syndrome
Incomplete cleft of the upper lip, Deep philtrum, Intestinal malrotation, Orofacial cleft ORPHA:77300
Holzgreve Syndrome
Abnormal morphology of ulna, Abnormal rib morphology, Hand polydactyly, Abnormal metacarpal morph... ORPHA:2167
Holoprosencephaly 7
Bilateral cleft palate, Median cleft lip, Occipital meningocele, Bilateral cleft lip, Alobar holo... OMIM:610828
Sclerosteosis
Finger syndactyly, 2-3 finger syndactyly, Diaphyseal thickening, Curved distal phalanges of the hand ORPHA:3152
Craniofrontonasal Syndrome
Toe syndactyly, Broad hallux, Down-sloping shoulders, Hypospadias, Cleft upper lip, Abnormality o... OMIM:304110
Intellectual Developmental Disorder, Autosomal Dominant 65
Tented upper lip vermilion, Single transverse palmar crease, Noncommunicating hydrocephalus, Shor... OMIM:619320
Atrioventricular Defect-Blepharophimosis-Radial And Anal Defect Syndrome
Aplasia/Hypoplasia of the thumb, Hypoplasia of the ulna, Absent radius, Aplasia of the 1st metaca... ORPHA:1352
Congenital Myopathy 22B, Severe Fetal
Hip contracture, Scapular winging, Limb joint contracture, Shoulder flexion contracture, Hypoplas... OMIM:620369
Kleefstra Syndrome 1
Natal tooth, Recurrent respiratory infections, Hypospadias, Single transverse palmar crease, Pers... OMIM:610253
Adams-Oliver Syndrome 2
Single transverse palmar crease, Hydrocephalus, Lateral ventricle dilatation, Absent distal phala... OMIM:614219
Satb2-Associated Syndrome Due To A Chromosomal Rearrangement
Dental crowding, External genital hypoplasia, Tibial bowing, High palate, Short philtrum, Microdo... ORPHA:251028
Townes-Brocks Syndrome 1
Bifid scrotum, Short metatarsal, Holoprosencephaly, Triphalangeal thumb, Atrial septal defect, 2-... OMIM:107480
Tracheal Agenesis
Aplasia/Hypoplasia of the lungs, Abnormal cardiac septum morphology ORPHA:3346
Craniofaciofrontodigital Syndrome
Bicuspid aortic valve, Abnormal cerebral vascular morphology, Cardiomegaly, Finger joint hypermob... ORPHA:363705
Congenital Tracheal Stenosis
Ventricular septal defect, Abnormal stomach morphology, Ascending aorta hypoplasia, Patent ductus... ORPHA:141127
2Q37 Microdeletion Syndrome
Umbilical hernia, Congenital diaphragmatic hernia ORPHA:1001
Congenital Muscular Dystrophy, Fukuyama Type
Hydrocephalus, Dilated cardiomyopathy, Camptodactyly of finger, Ventriculomegaly ORPHA:272
Osteogenesis Imperfecta, Type Ix
Pectus excavatum, Pectus carinatum, Short lower limbs, Beaded ribs OMIM:259440
Orofaciodigital Syndrome Xix
Toe syndactyly, Broad hallux, Cleft soft palate, Type A brachydactyly, Accessory oral frenulum, C... OMIM:620107
Intellectual Developmental Disorder, Autosomal Dominant 39
Wide mouth, Hydrocephalus, Bilateral talipes equinovarus OMIM:616521
Coffin-Siris Syndrome 7
Thin upper lip vermilion, Ventricular septal defect, Bicuspid aortic valve, Thick lower lip vermi... OMIM:618027
Ulnar Agenesis And Endocardial Fibroelastosis
Neonatal death, Hand oligodactyly, Hydrops fetalis, Aplasia of the ulna OMIM:276822
Brachytelephalangic Chondrodysplasia Punctata
Recurrent respiratory infections, Calcaneal epiphyseal stippling, Optic disc hypoplasia, Optic ne... ORPHA:79345
Williams-Beuren Region Duplication Syndrome
Diastema, Cryptorchidism, Hydrocephalus, Patent ductus arteriosus, High palate, Short philtrum, V... OMIM:609757
Tetraploidy
Radial club hand, Cleft palate, Aplasia/Hypoplasia of the lungs, Short philtrum, Aplasia/Hypoplas... ORPHA:3305
Cantú Syndrome
Finger syndactyly, Broad hallux phalanx, Abnormal heart valve morphology, Short hallux, Coxa valg... ORPHA:1517
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14
Tented upper lip vermilion, Single transverse palmar crease, External genital hypoplasia, Deep ph... ORPHA:96334
Joubert Syndrome
Encephalocele, Aganglionic megacolon, Situs inversus totalis, Hydrocephalus, Orofacial cleft, Han... ORPHA:475
Ohdo Syndrome, X-Linked
Ulnar deviation of the hand, Overlapping toe, Small scrotum, Microdontia, Hiatus hernia, Short th... OMIM:300895
Porencephaly, Cerebellar Hypoplasia, And Internal Malformations
Situs inversus totalis, Atrial septal defect, Tetralogy of Fallot OMIM:601322
Pulmonary Hypertension, Primary, 1
Pulmonary arterial medial hypertrophy, Pulmonary artery vasoconstriction, Arterial intimal fibros... OMIM:178600
Cardiofacioneurodevelopmental Syndrome
Ventricular septal defect, Cleft lip, Cryptorchidism, Cleft palate, Pulmonic stenosis, Camptodact... OMIM:619123
White-Sutton Syndrome
Atrial septal defect, Patent foramen ovale, Facial hypotonia, Congenital diaphragmatic hernia OMIM:616364
Bardet-Biedl Syndrome 21
Hypoplasia of the fovea, Postaxial hand polydactyly, Hypodontia, Abnormality of the dentition OMIM:617406
Pontine Tegmental Cap Dysplasia
Rib fusion OMIM:614688
Ulnar-Mammary Syndrome
Abnormal morphology of the radius, Hypoplasia of penis, Ventricular septal defect, Camptodactyly ... ORPHA:3138
Noonan Syndrome-Like Disorder With Loose Anagen Hair 2
Thin upper lip vermilion, Peripheral pulmonary artery stenosis, Ventricular septal defect, Optic ... OMIM:617506
Frontonasal Dysplasia-Severe Microphthalmia-Severe Facial Clefting Syndrome
Camptodactyly of finger, Cleft palate, Finger clinodactyly, Pectoral muscle hypoplasia/aplasia, C... ORPHA:306542
Crouzon Syndrome-Acanthosis Nigricans Syndrome
Brachydactyly, Hydrocephalus, Abnormal palate morphology, Abnormal metacarpal morphology ORPHA:93262
Desmosterolosis
Intestinal malrotation, Micromelia, Metatarsus adductus, Patent ductus arteriosus, Submucous clef... ORPHA:35107
Arthrogryposis Multiplex Congenita 6
Death in infancy, Polyhydramnios, Death in childhood, Neonatal death, Adducted thumb OMIM:619334
Neurodevelopmental Disorder With Dysmorphic Facies And Skeletal And Brain Abnormalities
Broad hallux, Ventricular septal defect, Clinodactyly of the 2nd toe, Coxa valga, Precocious pube... OMIM:620073
Ciliary Dyskinesia, Primary, 17
Situs inversus totalis, Recurrent respiratory infections, Bronchiectasis, Dextrocardia OMIM:614679
Chromosome 8Q21.11 Deletion Syndrome
Syndactyly, Short metacarpal, Exaggerated cupid's bow, Cryptorchidism, Cleft palate, Downturned c... OMIM:614230
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5
Hydrocephalus, Left ventricular hypertrophy, Microphthalmia, Dandy-Walker malformation, Ventricul... OMIM:613153
Laurence-Moon Syndrome
Finger syndactyly, Hypoplasia of penis, Bilateral single transverse palmar creases, Cryptorchidis... ORPHA:2377
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Hypermethylation
Omphalocele, Ventricular septal defect, Diastasis recti, Large placenta, Abnormal heart morpholog... ORPHA:254534
Ciliary Dyskinesia, Primary, 7
Situs inversus totalis, Recurrent pneumonia, Bronchiectasis, Dextrocardia OMIM:611884
Myopathy, Centronuclear, X-Linked
Arachnodactyly, Pyloric stenosis, Hydrocephalus, Cryptorchidism, Dental malocclusion, Slender toe... OMIM:310400
Opitz Gbbb Syndrome
Omphalocele, Inguinal hernia, Ventricular septal defect, Congenital diaphragmatic hernia, Abnorma... ORPHA:2745
Joubert Syndrome 23
Polydactyly OMIM:616490
Albers-Schönberg Osteopetrosis
Abnormality of the dentition, Carious teeth, Hydrocephalus, Genu valgum, Abnormal epiphysis morph... ORPHA:53
Lethal Congenital Contracture Syndrome 2
Skeletal muscle atrophy, Ventricular septal defect, Dilated cardiomyopathy, Arthrogryposis multip... OMIM:607598
Frontofacionasal Dysplasia
Encephalocele, Microphthalmia, Non-midline cleft lip, Cleft palate ORPHA:1791
Mesomelic Dysplasia, Nievergelt Type
Finger syndactyly, Abnormal morphology of ulna, Micromelia, Tarsal synostosis, Elbow dislocation,... ORPHA:2633
Contractures-Ectodermal Dysplasia-Cleft Lip/Palate Syndrome
Non-midline cleft lip, Cleft palate ORPHA:1484
Neurodevelopmental Disorder With Neuromuscular And Skeletal Abnormalities
Tented upper lip vermilion, Exaggerated cupid's bow, Coxa valga, Deep philtrum, Hydrocephalus, Ha... OMIM:619833
Kabuki Syndrome
Hypoplasia of penis, Orofacial cleft, High palate, Widely spaced teeth, Microdontia, Abnormal den... ORPHA:2322
Ivic Syndrome
Aplastic clavicle, Preaxial hand polydactyly, Short thumb, Hypoplasia of the radius, Radioulnar s... ORPHA:2307
Laurin-Sandrow Syndrome
Syndactyly, Absent radius, Patellar aplasia, Short foot, Hand polydactyly, Triphalangeal thumb, A... OMIM:135750
Aphalangy-Hemivertebrae-Urogenital-Intestinal Dysgenesis Syndrome
Finger syndactyly, Toe syndactyly, Elbow dislocation, Patent ductus arteriosus, Aplasia/Hypoplasi... ORPHA:1112
Ciliary Dyskinesia, Primary, 25
Recurrent respiratory infections, Dextrocardia, Situs inversus totalis, Recurrent pneumonia, Bron... OMIM:615482
16Q24.3 Microdeletion Syndrome
Ventriculomegaly, Ventricular septal defect, Optic nerve hypoplasia, Proximal placement of thumb,... ORPHA:261250
Smith-Lemli-Opitz Syndrome
Bifid scrotum, Small scrotum, Dental crowding, Micromelia, Proximal placement of thumb, 2-3 toe c... OMIM:270400
Beck-Fahrner Syndrome
Ventricular septal defect, Cardiomegaly, Hip dysplasia, Extra-axial cerebrospinal fluid accumulat... OMIM:618798
Silver-Russell Syndrome 3
Syndactyly, Ambiguous genitalia, Unilateral cryptorchidism, Patent ductus arteriosus, Small hand,... OMIM:616489
Kyphomelic Dysplasia
Short humerus, Short metacarpal, Radial bowing, Short femur, Bowed humerus, Micromelia, Cleft upp... OMIM:211350
Joubert Syndrome 24
Postaxial foot polydactyly, Postaxial hand polydactyly, Talipes equinovarus OMIM:616654
Lateral Meningocele Syndrome
Ventricular septal defect, Bicuspid aortic valve, Dental crowding, Cryptorchidism, Patent ductus ... OMIM:130720
Macrocephaly-Intellectual Disability-Autism Syndrome
Intestinal polyposis, Penile freckling, Preaxial hand polydactyly, Foot polydactyly, Lymphoid nod... ORPHA:210548
White-Sutton Syndrome
Ventral hernia, Inguinal hernia, Facial hypotonia, Congenital diaphragmatic hernia, Abnormal hear... ORPHA:468678
Hypogonadotropic Hypogonadism 9 With Or Without Anosmia
Hypogonadotropic hypogonadism, Cleft lip, Cleft palate, Micropenis, Clinodactyly, Decreased testi... OMIM:614838
Mullerian Duct Aplasia, Unilateral Renal Agenesis, And Cervicothoracic Somite Anomalies
Cleft upper lip, Cleft palate, Hypoplasia of the uterus, Azoospermia, Bicornuate uterus OMIM:601076
Skeletal Defects, Genital Hypoplasia, And Impaired Intellectual Development
Hypoplasia of the ulna, Short femur, Absent thumb, Fibular hypoplasia, Aplasia/Hypoplasia of the ... OMIM:612447
Otopalatodigital Syndrome, Type I
Abnormality of the fifth metatarsal bone, Selective tooth agenesis, Femoral bowing, Broad distal ... OMIM:311300
Omodysplasia 1
Short humerus, Rhizomelia, Increased fibular diameter, Ventricular septal defect, Cryptorchidism,... OMIM:258315
Distal Deletion 12Q
Single transverse palmar crease, High, narrow palate, Aplasia/Hypoplasia of the middle phalanx of... ORPHA:96149
Muenke Syndrome
Tarsal synostosis, High, narrow palate, Hydrocephalus, Cone-shaped epiphysis, Short foot, Short p... ORPHA:53271
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly
Hypoplasia of the ulna, Death in infancy, Lateral clavicle hook, Horizontal ribs, Early ossificat... OMIM:208500
Neurodevelopmental Disorder With Dysmorphic Facies, Sleep Disturbance, And Brain Abnormalities
Ventricular septal defect, Hypospadias, Cryptorchidism, Thick lower lip vermilion, Submucous clef... OMIM:619103
Autosomal Dominant Intellectual Disability-Craniofacial Anomalies-Cardiac Defects Syndrome
Thin upper lip vermilion, Ventricular septal defect, Intestinal malrotation, Cryptorchidism, Pate... ORPHA:457193
Spondylometaphyseal Dysplasia, Sedaghatian Type
Delayed epiphyseal ossification, Long fibula, Narrow greater sciatic notch, Narrow chest, Short p... OMIM:250220
Diamond-Blackfan Anemia 7
Small hypothenar eminence, Ventricular septal defect, Secundum atrial septal defect, Short thumb,... OMIM:612562
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 3
Hypoplasia of the ulna, Tapered finger, Hip dislocation, Thin ribs, Delayed ossification of carpa... OMIM:618395
Orofaciodigital Syndrome Type 3
Irregular dentition, Hamartoma of tongue, Abnormality of the dentition, Postaxial hand polydactyl... ORPHA:2752
Acrofacial Dysostosis, Catania Type
Finger syndactyly, Brachydactyly, Hypospadias, Abnormality of the dentition, Carious teeth, Crypt... ORPHA:1786
Microphthalmia, Isolated 5
Microphthalmia, Cystoid macular edema OMIM:611040
Intellectual Developmental Disorder, Autosomal Recessive 71
Ventricular septal defect, Abnormally large globe, Cryptorchidism, Increased overbite, Micropenis OMIM:618504
Osteoporosis-Pseudoglioma Syndrome
Crumpled long bones, Isosexual precocious puberty, Metaphyseal widening, Abnormal femoral neck/he... ORPHA:2788
Congenitally Corrected Transposition Of The Great Arteries
Atrial situs ambiguous, Abnormal left ventricular outflow tract morphology, Abnormal tricuspid va... ORPHA:216694
Multiple Epiphyseal Dysplasia Type 4
Abnormal hand morphology, Metaphyseal widening, Short metatarsal, Coxa vara, High palate, Arthral... ORPHA:93307
Spondylo-Ocular Syndrome
Aplasia/Hypoplasia of the lens, Ventricular septal defect, Thin vermilion border, Long philtrum, ... ORPHA:85194
Eiken Syndrome
Broad femoral neck, Delayed epiphyseal ossification, Flat acetabular roof, Fibular hypoplasia, Fl... OMIM:600002
Developmental Delay With Or Without Dysmorphic Facies And Autism
Omphalocele, Inguinal hernia, Ventricular septal defect, Congenital diaphragmatic hernia, Umbilic... OMIM:618454
Senior-Loken Syndrome 9
Hypogonadism, Polydactyly, Hypoplasia of the femoral head, Chronic bronchitis OMIM:616629
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1
Occipital encephalocele, Ventriculomegaly, Optic nerve hypoplasia, Cleft upper lip, Meningoenceph... OMIM:236670
Congenital Pseudoarthrosis Of The Clavicle
Situs inversus totalis, Dextrocardia ORPHA:66630
Hydrocephalus, Congenital, X-Linked
Aqueductal stenosis, Thumb contracture, Hydrocephalus, Adducted thumb OMIM:307000
Blepharo-Cheilo-Odontic Syndrome
Finger syndactyly, Conical tooth, Carious teeth, Bilateral cleft lip and palate, Anal atresia ORPHA:1997
Braddock Syndrome
Pectus excavatum, Preaxial hand polydactyly, Missing ribs ORPHA:52047
Waardenburg Syndrome Type 1
Tented upper lip vermilion, Aganglionic megacolon, Spina bifida, Cleft upper lip, Meningocele, Cl... ORPHA:894
Miller-Dieker Lissencephaly Syndrome
Delayed eruption of teeth, Thin upper lip vermilion, Single transverse palmar crease, Cryptorchid... OMIM:247200
Chromosome 17P13.1 Deletion Syndrome
Hallux valgus, Arachnodactyly, Broad hallux, Proximal placement of thumb, Tapered finger, Spina b... OMIM:613776
Smith-Lemli-Opitz Syndrome
Hypoplasia of penis, Proximal placement of thumb, Abnormal lung lobation, Holoprosencephaly, Atri... ORPHA:818
Mandibulofacial Dysostosis-Microcephaly Syndrome
Atrial septal defect, Preaxial hand polydactyly, Cleft palate, Accessory oral frenulum ORPHA:79113
Coloboma-Obesity-Hypogenitalism-Mental Retardation Syndrome
Microphthalmia, Hydrocephalus, Hypogonadism, Cryptorchidism OMIM:601794
Cntnap2-Related Developmental And Epileptic Encephalopathy
Preaxial polydactyly, Abnormal neuron morphology ORPHA:163681
Vici Syndrome
Recurrent respiratory infections, Everted upper lip vermilion, Median cleft lip, Cleft upper lip,... OMIM:242840
Marfanoid-Progeroid-Lipodystrophy Syndrome
Hyperextensibility of the finger joints, Scapular winging, Lateral ventricular asymmetry, Arachno... OMIM:616914
Mucopolysaccharidosis Type 1
Recurrent respiratory infections, Abnormal heart valve morphology, Malabsorption, Hydrocephalus, ... ORPHA:579
Mirage Syndrome
Hypospadias, Rocker bottom foot, Hypergonadotropic hypogonadism, Radial club hand, Esophageal str... OMIM:617053
Microphthalmia, Isolated 8
Microphthalmia, Anophthalmia, Optic nerve hypoplasia, True anophthalmia OMIM:615113
Hypoplastic Left Heart Syndrome
Mitral atresia, Patent ductus arteriosus, Hypoplastic aortic arch, Hypoplastic left heart, Atrial... ORPHA:2248
Rere-Related Neurodevelopmental Syndrome
Ventricular septal defect, Hypospadias, Cryptorchidism, Abnormal heart morphology, Hip dysplasia,... ORPHA:494344
Gorlin Syndrome
Arachnodactyly, Hypogonadotropic hypogonadism, Palmar pits, Carious teeth, Hydrocephalus, Cryptor... ORPHA:377
Melnick-Needles Syndrome
Bowing of the long bones, Coxa valga, Short thorax, Hip dislocation, Abnormal rib morphology, Con... ORPHA:2484
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome
Metaphyseal widening, High palate, Microdontia, Arachnodactyly, Repeated pneumothoraces, Atelecta... ORPHA:536467
Chime Syndrome
Ventricular septal defect, Abnormal dental morphology, Aplastic clavicle, Abnormality of the dent... ORPHA:3474
Van Der Woude Syndrome 2
Lip pit, Cleft upper lip, Dental malocclusion, Cleft palate, Hypodontia, Anodontia OMIM:606713
Arthrogryposis, Cleft Palate, Craniosynostosis, And Impaired Intellectual Development
Slender long bone, Thin ribs, Nonimmune hydrops fetalis, Brachydactyly OMIM:618265
Acromesomelic Dysplasia 4
Thoracic scoliosis, Short metatarsal, Short phalanx of finger, Genu varum, Short metacarpal, Radi... OMIM:619636
Intellectual Developmental Disorder, Autosomal Recessive 18, With Or Without Epilepsy
Atrial septal defect, Ventricular septal defect OMIM:614249
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2A2
Paresis of extensor muscles of the big toe, Abnormality of the hand, Hand muscle weakness, Abnorm... ORPHA:99947
Aortic Arch Anomaly With Peculiar Facies And Mental Retardation
Right aortic arch with mirror image branching OMIM:107500
Genitopatellar Syndrome
Hip contracture, Knee flexion contracture, Pulmonary hypoplasia, Atrial septal defect, Arthrogryp... ORPHA:85201
Otodental Syndrome
Delayed eruption of teeth, Abnormal dental enamel morphology, Abnormal dental pulp morphology, Ag... ORPHA:2791
Axenfeld-Rieger Syndrome, Type 2
Anal stenosis, Hypospadias, Cryptorchidism, Hydrocephalus, Abnormal heart morphology, Everted low... OMIM:601499
Faciocardiomelic Dysplasia, Lethal
Hypoplasia of the ulna, Radial deviation of the hand, Single transverse palmar crease, Short thum... OMIM:227270
Coenzyme Q10 Deficiency, Primary, 7
Patent ductus arteriosus, Ventricular septal defect, Hypertrophic cardiomyopathy, Hypoplastic lef... OMIM:616276
Intellectual Disability-Brachydactyly-Pierre Robin Syndrome
Tented upper lip vermilion, Exaggerated cupid's bow, Abnormality of canine, Aplasia of the distal... ORPHA:364577
Lambert Syndrome
Wide mouth, Branchial anomaly, Ventricular septal defect, Hypospadias ORPHA:1296
Intellectual Developmental Disorder, X-Linked, Syndromic 32
Macroorchidism, Hydrocephalus, Cardiomegaly OMIM:300886
Summitt Syndrome
Finger syndactyly, Camptodactyly of finger, Genu valgum, Short palm, Clinodactyly of the 5th fing... ORPHA:3210
Specc1L-Related Hypertelorism Syndrome
Finger syndactyly, Atrial septal defect, Ventricular septal defect, Female pseudohermaphroditism,... ORPHA:1519
Autosomal Recessive Kenny-Caffey Syndrome
Stenosis of the medullary cavity of the long bones, Thin clavicles, Small hand, Thin ribs, Short ... ORPHA:93324
Spondyloepimetaphyseal Dysplasia, X-Linked, With Hypomyelinating Leukodystrophy
Anterior rib cupping, Metaphyseal widening, Broad palm, Coxa vara, Flattened epiphysis, Metaphyse... OMIM:300232
Igg4-Related Aortitis
Intestinal obstruction, Thoracic aortic aneurysm, Abnormal aortic arch morphology, Ascending tubu... ORPHA:449400
Dyggve-Melchior-Clausen Disease
Glenoid fossa hypoplasia, Coxa vara, Pectus carinatum, Broad ribs, Rhizomelia, Iliac crest serrat... ORPHA:239
Van Der Woude Syndrome
Lip pit, Cleft upper lip, Lower lip pit, Cleft palate, Hypodontia, Abnormal salivary gland morpho... ORPHA:888
Seckel Syndrome 1
Dental crowding, Abnormal finger flexion crease, Single transverse palmar crease, Abnormally larg... OMIM:210600
Ischiocoxopodopatellar Syndrome With Or Without Pulmonary Arterial Hypertension
Wide capital femoral epiphyses, Short femur, Sandal gap, Tarsal synostosis, Flat capital femoral ... OMIM:147891
Poland Syndrome
Aplasia/Hypoplasia of the thumb, Aplasia of the pectoralis major muscle, Pectus carinatum, Abnorm... ORPHA:2911
Camptobrachydactyly
Finger syndactyly, Aplasia/Hypoplasia of the thumb, Toe syndactyly, Camptodactyly of finger, Sept... ORPHA:1319
Severe X-Linked Intellectual Disability, Gustavson Type
Dilated fourth ventricle, Congenital hip dislocation, Ventricular septal defect, Rocker bottom fo... ORPHA:3078
Aortic Arch Interruption
Bicuspid aortic valve, Ventricular septal defect, Patent ductus arteriosus, Aortic valve atresia,... ORPHA:2299
Foveal Hypoplasia 2
Hypoplasia of the fovea, Microphthalmia OMIM:609218
Warburg Micro Syndrome 3
Small scrotum, Hypoplastic labia minora, Narrow palate, Downturned corners of mouth, Clinodactyly... OMIM:614222
Short Stature-Wormian Bones-Dextrocardia Syndrome
Dextrocardia, Camptodactyly of finger ORPHA:2863
Loeys-Dietz Syndrome 5
Atrial septal defect, Scapular winging, Tented upper lip vermilion, Arachnodactyly, Ventricular s... OMIM:615582
Intellectual Developmental Disorder, Autosomal Dominant 48
Dilated fourth ventricle, Ventricular septal defect, Bicuspid aortic valve, Hypospadias, Patent d... OMIM:617751
Neurodegeneration And Seizures Due To Copper Transport Defect
Pneumothorax, Cardiomegaly, Pulmonary hypoplasia, Limb hypertonia OMIM:620306
Hirschsprung Disease-Deafness-Polydactyly Syndrome
Postaxial hand polydactyly, Aganglionic megacolon, Foot polydactyly ORPHA:2155
Frontonasal Dysplasia-Alopecia-Genital Anomalies Syndrome
Encephalocele, Small scrotum, Abnormality of the dentition, Conical tooth, Cryptorchidism, Hypogo... ORPHA:228390
Septopreoptic Holoprosencephaly
Abnormal rib morphology, Ethmoidal encephalocele ORPHA:280195
Baller-Gerold Syndrome
Carpal bone aplasia, Hypoplasia of the ulna, Radial deviation of the hand, Short humerus, Limited... OMIM:218600
Campomelic Dysplasia
Irregular dentition, Anterior tibial bowing, Delayed epiphyseal ossification, Patellar hypoplasia... OMIM:114290
Lymphedema-Distichiasis Syndrome
Cleft upper lip, Patent ductus arteriosus, Cleft palate, Varicose veins, Abnormality of the pulmo... ORPHA:33001
Wolcott-Rallison Syndrome
Atrial septal defect, Metaphyseal dysplasia, Double outlet right ventricle ORPHA:1667
Nephronophthisis 2
Situs inversus totalis, Pulmonary hypoplasia OMIM:602088
Microphthalmia With Linear Skin Defects Syndrome
Abnormal penis morphology, Anophthalmia, Abnormal fallopian tube morphology, Abnormal dental enam... ORPHA:2556
Pfeiffer Syndrome
Finger syndactyly, Brachydactyly, Symphalangism affecting the phalanges of the hand, Hip dysplasi... ORPHA:710
Tetrasomy 5P
Pericallosal lipoma, Recurrent respiratory infections, Hydrocephalus, Aplasia/Hypoplasia of the a... ORPHA:3309
Ciliary Dyskinesia, Primary, 37
Situs inversus totalis, Bronchiectasis, Right aortic arch, Dextrocardia OMIM:617577
Fanconi Anemia, Complementation Group D2
Hypergonadotropic hypogonadism, Absent thumb, Absent radius, Preaxial hand polydactyly, Short thu... OMIM:227646
Congenital Muscular Dystrophy With Cerebellar Involvement
Dilated fourth ventricle, Occipital encephalocele, Optic nerve hypoplasia, Hydrocephalus, Macrogl... ORPHA:370959
Nance-Horan Syndrome
Supernumerary tooth, Microphthalmia, Short metacarpal, Abnormality of the dentition ORPHA:627
Microphthalmia, Lenz Type
Delayed eruption of teeth, Finger syndactyly, Abnormal dental morphology, Camptodactyly of finger... ORPHA:568
Grange Syndrome
Syndactyly, Bicuspid aortic valve, Carotid artery stenosis, Finger clinodactyly, Renal artery ste... OMIM:602531
Anencephaly 1
Anencephaly, Spina bifida OMIM:206500
Diamond-Blackfan Anemia 21
Hallux valgus, Sandal gap, Tapered finger, Secundum atrial septal defect, Preaxial hand polydacty... OMIM:620072
Otopalatodigital Syndrome, Type Ii
Congenital hip dislocation, Short metatarsal, Tibial bowing, Femoral bowing, Atrial septal defect... OMIM:304120
Goldberg-Shprintzen Megacolon Syndrome
Bifid scrotum, Finger syndactyly, Aganglionic megacolon, Hypospadias, Cleft palate, Ventriculomegaly ORPHA:66629
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome
Ivory epiphyses, Short metacarpal, Bowing of the long bones, Rhizomelia, Metaphyseal spurs, Bowin... ORPHA:85167
Joubert Syndrome 32
Postaxial foot polydactyly, Hypertrophic cardiomyopathy, Postaxial hand polydactyly OMIM:617757
Cenani-Lenz Syndrome
Hypoplasia of the ulna, Finger syndactyly, Toe syndactyly, Micromelia, Elbow dislocation, Short t... ORPHA:3258
Distal Duplication 5Q
Hypoplasia of the ulna, Ventricular septal defect, Dextrocardia, Hypospadias, Absent thumb, Cario... ORPHA:96097
Hydrocephalus With Stenosis Of The Aqueduct Of Sylvius
Aqueductal stenosis, Hydrocephalus, Holoprosencephaly, Adducted thumb ORPHA:2182
Giant Cell Arteritis
Pericarditis, Abnormal pleura morphology, Recurrent pharyngitis, Vasculitis, Aortic dissection, G... ORPHA:397
Distal Deletion 3P
Cryptorchidism, Postaxial hand polydactyly, Cleft palate, Downturned corners of mouth, Thin vermi... ORPHA:1620
Joubert Syndrome 2
Encephalocele, Enlarged fossa interpeduncularis, Postaxial hand polydactyly, Hydrocephalus, Posta... OMIM:608091
Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb
Bicuspid aortic valve, Single transverse palmar crease, Widely spaced teeth, High palate, Atrial ... OMIM:612474
Combined Oxidative Phosphorylation Deficiency 25
Syndactyly, Ventriculomegaly, Intraventricular hemorrhage, Aspiration pneumonia, Long philtrum, S... OMIM:616430
Fatco Syndrome
Finger syndactyly, Tarsal synostosis, Abnormal tibia morphology, Split hand, Absent hand, Abnorma... ORPHA:2492
L1 Syndrome
Aqueductal stenosis, Hydrocephalus, Aganglionic megacolon, Adducted thumb ORPHA:275543
Cardiac Valvular Dysplasia 2
Bicuspid aortic valve, Ascending tubular aorta aneurysm, Pulmonic stenosis, Subvalvular aortic st... OMIM:620067
Distal 22Q11.2 Microduplication Syndrome
Anal atresia, Branchial fistula, Toe syndactyly, Ventricular septal defect, Camptodactyly of fing... ORPHA:261337
Distal Deletion 19P
Long toe, Vaginal hernia, Ventricular septal defect, Arachnodactyly, Cleft palate, Short philtrum... ORPHA:96129
Atelis Syndrome 2
Single transverse palmar crease, Diastema, Patent ductus arteriosus, Thick lower lip vermilion, S... OMIM:620185
Atelosteogenesis Type Ii
Micromelia, Short phalanx of finger, Broad metacarpals, Ulnar deviation of the hand or of fingers... ORPHA:56304
Aural Atresia, Multiple Congenital Anomalies, And Mental Retardation
Ventricular septal defect, Talipes equinovarus OMIM:209770
Trisomy 20P
Finger syndactyly, Macroorchidism, Hypospadias, Camptodactyly of finger, Spina bifida, Abnormalit... ORPHA:261318
Neurodevelopmental Disorder With Feeding Difficulties, Thin Corpus Callosum, And Foot Deformity
Aortic valve stenosis, Bicuspid aortic valve, Hydrocephalus OMIM:615599
Platyspondylic Dysplasia, Torrance Type
Bowing of the long bones, Hypoplastic scapulae, Micromelia, Abnormal carpal morphology, Hypoplasi... ORPHA:85166
Rhizomelic Chondrodysplasia Punctata, Type 2
Short humerus, Rhizomelia, Optic nerve hypoplasia, Submucous cleft hard palate, Epiphyseal stippl... OMIM:222765
Camptobrachydactyly
Syndactyly, Septate vagina, Short toe, Hand polydactyly, Congenital finger flexion contractures, ... OMIM:114150
Lethal Omphalocele-Cleft Palate Syndrome
Cleft soft palate, Bifid uterus, Hydrocephalus, Cleft palate, Unilateral cleft lip, Bifid uvula ORPHA:2736
Atelis Syndrome 1
Ventricular septal defect, Carious teeth, Bronchiectasis, High palate, Long philtrum, Atrial sept... OMIM:620184
Tatton-Brown-Rahman Syndrome
Everted upper lip vermilion, Ventricular septal defect, Optic nerve hypoplasia, Exaggerated cupid... OMIM:615879
Desbuquois Dysplasia 2
Dental crowding, Single transverse palmar crease, Metaphyseal widening, Short phalanx of finger, ... OMIM:615777
Multiple Benign Circumferential Skin Creases On Limbs
Small scrotum, Hypospadias, Cryptorchidism, Cleft palate, Upper limb asymmetry, Umbilical hernia,... ORPHA:2505
Microphthalmia, Isolated 6
Microphthalmia OMIM:613517
3M Syndrome
Hypoplasia of the ulna, Scapular winging, Congenital hip dislocation, Rocker bottom foot, Microme... ORPHA:2616
Robinow Syndrome, Autosomal Dominant 2
Dental crowding, Oligodontia, Micropenis, Cleft soft palate, Cryptorchidism, Gingival overgrowth,... OMIM:616331
Microphthalmia, Syndromic 13
Microphthalmia, Widely-spaced incisors OMIM:300915
Weill-Marchesani Syndrome 1
Ventricular septal defect, Patent ductus arteriosus, Microspherophakia, Tooth malposition, Broad ... OMIM:277600
8P Inverted Duplication/Deletion Syndrome
Small hypothenar eminence, Dextrocardia, Precocious puberty, Long fingers, High, narrow palate, C... ORPHA:96092
Galloway-Mowat Syndrome 3
Arachnodactyly, Hiatus hernia, Narrow mouth, Hip dislocation, Coarctation of aorta, High palate, ... OMIM:617729
Nance-Horan Syndrome
Diastema, Mulberry molar, Broad finger, Supernumerary maxillary incisor, Microphthalmia, Screwdri... OMIM:302350
Congenital Heart Defects, Dysmorphic Facial Features, And Intellectual Developmental Disorder
Thin upper lip vermilion, Short lingual frenulum, Ventricular septal defect, Narrow mouth, Downtu... OMIM:617360
Marshall-Smith Syndrome
Irregular dentition, Bilateral cryptorchidism, Distal widening of metacarpals, Coxa vara, Anterio... OMIM:602535
Lenz-Majewski Hyperostotic Dwarfism
External genital hypoplasia, High, narrow palate, Epispadias, Abnormal finger morphology, Symphal... ORPHA:2658
Achondroplasia
Rhizomelia, Hip joint hypermobility, Bowing of the legs, Short proximal phalanx of finger, Hydroc... ORPHA:15
Cleidocranial Dysplasia
Hypoplastic scapulae, Down-sloping shoulders, Tapered finger, Abnormal thumb morphology, Abnormal... ORPHA:1452
Cortical Dysplasia, Complex, With Other Brain Malformations 6
Dilated fourth ventricle, Microphthalmia OMIM:615771
Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart
Syndactyly, Ventriculomegaly, Ventricular septal defect, Hypospadias, Cleft lip, Patent ductus ar... OMIM:616975
Brachyolmia Type 3
Spinal cord compression, Proximal femoral metaphyseal irregularity, Short femoral neck, Radial de... OMIM:113500
Codas Syndrome
Delayed eruption of teeth, Short metacarpal, Congenital hip dislocation, Ventricular septal defec... ORPHA:1458
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4
Encephalocele, Hydrocephalus, Dilated cardiomyopathy, Myocardial fibrosis, Transposition of the g... OMIM:253800
Cerebrooculofacioskeletal Syndrome 2
Small scrotum, Camptodactyly of finger, Rocker bottom foot, Microphthalmia, Micropenis OMIM:610756
Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability
Microphthalmia, Bilateral cleft lip and palate ORPHA:1473
Biliary, Renal, Neurologic, And Skeletal Syndrome
Secundum atrial septal defect, Aqueductal stenosis, Primum atrial septal defect, Inlet ventricula... OMIM:619534
Cutis Laxa, Autosomal Recessive, Type Ib
Arachnodactyly, Arterial tortuosity, Emphysema, Aortic root aneurysm, High palate, Generalized ar... OMIM:614437
Deafness-Genital Anomalies-Metacarpal And Metatarsal Synostosis Syndrome
Finger syndactyly, Toe syndactyly, Hypospadias, Short hallux, Abnormality of the dentition, Abnor... ORPHA:3224
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 1
Recurrent respiratory infections, Toe syndactyly, Absence of Stensen duct, Selective tooth agenes... OMIM:129900
Neurodevelopmental Disorder With Microcephaly, Impaired Language, Epilepsy, And Gait Abnormalities
Syndactyly, Clinodactyly, Arachnodactyly, Widely spaced teeth OMIM:619092
Osteopathia Striata-Cranial Sclerosis Syndrome
Delayed eruption of teeth, High, narrow palate, Submucous cleft hard palate, High iliac wing, Cle... ORPHA:2780
Weill-Marchesani Syndrome 2
Short metacarpal, Ventricular septal defect, Patent ductus arteriosus, Microspherophakia, Short m... OMIM:608328
Kaufman Oculocerebrofacial Syndrome
Clitoral hypertrophy, Atrial septal defect, Thin upper lip vermilion, Congenital hip dislocation,... OMIM:244450
Ectodermal Dysplasia-Syndactyly Syndrome 1
2-4 finger syndactyly, Conical tooth, 2-3 toe cutaneous syndactyly, 4-5 toe syndactyly, Cutaneous... OMIM:613573
Congenital Total Pulmonary Venous Return Anomaly
Recurrent respiratory infections, Atrial situs ambiguous, Ventricular septal defect, Dextrocardia... ORPHA:99125
Mucolipidosis Iii Alpha/Beta
Soft tissue swelling of interphalangeal joints, Irregular carpal bones, Split hand, Short long bo... OMIM:252600
Dandy-Walker Syndrome
Dilated fourth ventricle, Hydrocephalus OMIM:220200
X-Linked Intellectual Disability-Cerebellar Hypoplasia-Spondylo-Epiphyseal Dysplasia Syndrome
Atrial septal defect, Thin upper lip vermilion, Toe syndactyly, Ventricular septal defect, Single... ORPHA:459070
King-Denborough Syndrome
Ventricular septal defect, Centrally nucleated skeletal muscle fibers, Type 1 muscle fiber predom... OMIM:619542
Peho Syndrome
Recurrent respiratory infections, Ventriculomegaly, Tapered finger, Hydrocephalus, Gingival overg... ORPHA:2836
Orofacial Cleft 15
Agenesis of lateral incisor, Bilateral cleft palate, Single transverse palmar crease, Bilateral c... OMIM:616788
Radial Aplasia, X-Linked
Absent radius, Hydrocephalus, Penile hypospadias, Anal atresia OMIM:312190
Renpenning Syndrome 1
Atrial septal defect, Thin upper lip vermilion, Ventricular septal defect, Macrodontia, Hypospadi... OMIM:309500
Shprintzen-Goldberg Craniosynostosis Syndrome
Arachnodactyly, Metatarsus adductus, Cryptorchidism, Metaphyseal widening, Hydrocephalus, Dental ... OMIM:182212
Orofaciodigital Syndrome Type 14
Dilated fourth ventricle, Broad hallux, Deviation of the hallux, Ventricular septal defect, Acces... ORPHA:434179
Renal Agenesis, Bilateral
Non-midline cleft lip, Tracheoesophageal fistula, Cleft palate, Sirenomelia, Abnormal intestine m... ORPHA:1848
Sweeney-Cox Syndrome
2-4 finger syndactyly, 2-5 finger cutaneous syndactyly, Bilateral cryptorchidism, Long fingers, N... OMIM:617746
Crane-Heise Syndrome
Finger syndactyly, Hypoplasia of penis, Toe syndactyly, Hypoplastic scapulae, Aplastic clavicle, ... ORPHA:1512
Orofaciodigital Syndrome Iii
Postaxial foot polydactyly, Postaxial hand polydactyly, Pectus excavatum, Short sternum OMIM:258850
Intellectual Developmental Disorder, Autosomal Dominant 4
Syndactyly, Short toe OMIM:612581
Opsismodysplasia
Short metacarpal, Rhizomelia, Anterior rib cupping, Edema, Polyhydramnios, Squared iliac bones, H... OMIM:258480
Cerebellofaciodental Syndrome
Ventricular septal defect, Single transverse palmar crease, Tapered finger, Cryptorchidism, Denta... OMIM:616202
Jacobsen Syndrome
Long hallux, Abnormality of the anus, Broad hallux phalanx, Finger syndactyly, Spina bifida, Cryp... ORPHA:2308
Larsen-Like Syndrome, Lethal Type
Pulmonary hypoplasia OMIM:245650
Microcephaly-Seizures-Intellectual Disability-Heart Disease Syndrome
Postaxial hand polydactyly, Abnormal rib morphology, Abnormal sternum morphology, Short ribs, Bro... ORPHA:2519
Toriello-Carey Syndrome
Dandy-Walker malformation, Ventriculomegaly, Aganglionic megacolon, Cryptorchidism, Patent ductus... ORPHA:3338
Klippel-Trenaunay-Weber Syndrome
Syndactyly, Macrodactyly, Hand oligodactyly, Hand polydactyly, Arteriovenous fistula OMIM:149000
Werner Syndrome
Rocker bottom foot, Abnormal cerebral vascular morphology, Pulmonary artery stenosis, Small hand,... ORPHA:902
Townes-Brocks Syndrome
Bifid scrotum, Hypoplasia of penis, Anteriorly placed anus, Abnormality of the uterus, Triphalang... ORPHA:857
Craniofacial Dysmorphism, Skeletal Anomalies, And Impaired Intellectual Development Syndrome 2
Bilateral cleft lip OMIM:616994
7Q11.23 Microduplication Syndrome
Inguinal hernia, Ventricular septal defect, Congenital diaphragmatic hernia, Hydrocephalus, Atria... ORPHA:96121
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies
Hyperextensibility of the finger joints, Internally rotated shoulders, Single transverse palmar c... OMIM:619503
Aymé-Gripp Syndrome
Pericarditis, Inguinal hernia, Congenital diaphragmatic hernia, Pericardial effusion, Hydrocephal... ORPHA:1272
Developmental And Epileptic Encephalopathy 85 With Or Without Midline Brain Defects
Dental crowding, Downturned corners of mouth, Short philtrum, Widely spaced teeth, Atrial septal ... OMIM:301044
Methimazole Embryofetopathy
Ventricular septal defect, Hypospadias, Esophageal atresia, Tracheoesophageal fistula, Coarctatio... ORPHA:1923
X-Linked Lissencephaly With Abnormal Genitalia
Hypoplasia of penis, Aganglionic megacolon, Ventricular septal defect, Malabsorption, Cryptorchid... ORPHA:452
Distal Limb Deficiencies-Micrognathia Syndrome
Aplasia/Hypoplasia of the thumb, Abnormal morphology of ulna, Tarsal synostosis, Narrow mouth, Cr... ORPHA:1307
Transaldolase Deficiency
Ventricular septal defect, Deep philtrum, Patent ductus arteriosus, Coarctation of aorta, Wide mo... OMIM:606003
Microcephaly-Cervical Spine Fusion Anomalies Syndrome
Pectus excavatum, Abnormal clavicle morphology, Abnormal rib morphology, Abnormal hip bone morpho... ORPHA:2522
Apert Syndrome
Delayed eruption of teeth, Aplasia/Hypoplasia of the thumb, Finger syndactyly, Toe syndactyly, Mi... ORPHA:87
Joubert Syndrome With Renal Defect
Encephalocele, Aganglionic megacolon, Hydrocephalus, Cleft palate, Orofacial cleft, Hand polydactyly ORPHA:220497
Skin Creases, Congenital Symmetric Circumferential, 1
Long fingers, Cleft palate, High palate, Narrow mouth, Microphthalmia, Dandy-Walker malformation,... OMIM:156610
Congenital Myopathy 17
Respiratory tract infection, Myopathy, Distal arthrogryposis, Pulmonary hypoplasia, Diaphragmatic... OMIM:618975
Ring Chromosome 12 Syndrome
Syndactyly, Secundum atrial septal defect, High, narrow palate, Abnormal 5th finger morphology, C... ORPHA:1439
Achondrogenesis Type 2
Pulmonary hypoplasia ORPHA:93296
Heterotaxy, Visceral, 9, Autosomal, With Male Infertility
Situs inversus totalis, Dextrocardia OMIM:618948
Fontaine Progeroid Syndrome
Small scrotum, Bicuspid aortic valve, High, narrow palate, Anteriorly placed anus, Oligodontia, A... OMIM:612289
Atelosteogenesis, Type Ii
Pulmonary hypoplasia OMIM:256050
Kenny-Caffey Syndrome, Type 1
Long clavicles, Thin clavicles, Small hand, Thin ribs, Short foot, Slender long bone, Short palm OMIM:244460
Klippel-Trénaunay Syndrome
Peripheral arteriovenous fistula, Venous insufficiency, Patent ductus arteriosus, Upper limb asym... ORPHA:90308
Short Rib-Polydactyly Syndrome, Verma-Naumoff Type
Hypoplasia of penis, Micromelia, Short palm, Dandy-Walker malformation, Urethrovaginal fistula, C... ORPHA:93271
Cockayne Syndrome Type 1
Anophthalmia, Delayed eruption of primary teeth, Abnormality of the dentition, Cryptorchidism, Ma... ORPHA:90321
Renpenning Syndrome
Pectus excavatum, Abnormal thumb morphology, Abnormal rib morphology, Clinodactyly of the 5th fin... ORPHA:3242
Mucopolysaccharidosis, Type Ii
Delayed eruption of teeth, Intestinal pseudo-obstruction, Abnormal heart valve morphology, Hydroc... OMIM:309900
Lacrimoauriculodentodigital Syndrome 1
Absence of Stensen duct, Preaxial polydactyly, Xerostomia, Radial deviation of the 3rd finger, Co... OMIM:149730
Macrocephaly, Neurodevelopmental Delay, Lymphoid Hyperplasia, And Persistent Fetal Hemoglobin
Ventricular septal defect, Dental crowding, Persistence of primary teeth, Hiatus hernia, Patent d... OMIM:619769
Oculogastrointestinal Neurodevelopmental Syndrome
Bicuspid aortic valve, Bilateral microphthalmos, Unilateral microphthalmos, Vaginal fistula, Anal... OMIM:619318
3Mc Syndrome 2
Hypospadias, Limited elbow movement, Cleft upper lip, Cryptorchidism, Hip dislocation, Cleft pala... OMIM:265050
Xeroderma Pigmentosum, Complementation Group G
Microphthalmia OMIM:278780
Cutis Laxa, Autosomal Recessive, Type Iib
Bowing of the long bones, Congenital hip dislocation, Prominent superficial veins, Hydrocephalus,... OMIM:612940
Tyshchenko Syndrome
Ventricular septal defect, High, narrow palate, Cryptorchidism, Narrow palate, Cleft palate, High... OMIM:615102
Mucopolysaccharidosis, Type Vii
Abnormal heart valve morphology, Metatarsus adductus, Hydrocephalus, Recurrent upper respiratory ... OMIM:253220
Epidermolysis Bullosa, Junctional 1B, Severe
Carious teeth, Syndactyly, Enamel hypoplasia, Pyloric stenosis OMIM:226700
Acrofacial Dysostosis, Rodríguez Type
Finger syndactyly, Aqueductal stenosis, Hand oligodactyly, Fibular hypoplasia, Radioulnar synosto... ORPHA:1788
Hydrocephalus, Congenital, 3, With Brain Anomalies
Ventriculomegaly, Hydrocephalus, Holoprosencephaly, Hydranencephaly, Dandy-Walker malformation OMIM:617967
Moebius Syndrome
Aplasia/Hypoplasia of the thumb, Finger syndactyly, Brachydactyly, Hypogonadotropic hypogonadism,... ORPHA:570
Isolated Split Hand-Split Foot Malformation
Finger syndactyly, Split hand, Absent hand, Aniridia, Oligodactyly ORPHA:2440
Umbilical Cord Ulceration-Intestinal Atresia Syndrome
Ventricular septal defect, Intestinal atresia, Abnormal aortic morphology, Abnormal tricuspid val... ORPHA:3405
Noonan Syndrome 8
Atrial septal defect, Ventricular septal defect, Cryptorchidism, Patent ductus arteriosus, Pleura... OMIM:615355
Keratoderma Hereditarium Mutilans
Abnormal spinal cord morphology, Autoamputation of digits, Honeycomb palmoplantar hyperkeratosis ORPHA:494
Dihydropyrimidine Dehydrogenase Deficiency
Microphthalmia OMIM:274270
Cri-Du-Chat Syndrome
Syndactyly, Short metacarpal, Hypospadias, Single transverse palmar crease, Metatarsus adductus, ... OMIM:123450
Epidermolysis Bullosa, Lethal Acantholytic
Syndactyly, Sandal gap, Widely spaced toes, Neonatal death, Mitten deformity, Clinodactyly of the... OMIM:609638
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome
Limited elbow movement, Narrow greater sciatic notch, Short phalanx of finger, Broad metacarpals,... ORPHA:508533
Hajdu-Cheney Syndrome
Ventricular septal defect, Intestinal malrotation, Hypospadias, Cryptorchidism, Patent ductus art... OMIM:102500
Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities
Rieger anomaly, Coxa valga, Hydrocephalus, Hip dislocation, Ventriculomegaly OMIM:109120
Denys-Drash Syndrome
Posterolateral diaphragmatic hernia, Congenital diaphragmatic hernia OMIM:194080
Silver-Russell Syndrome Due To Maternal Uniparental Disomy Of Chromosome 7
Syndactyly, Narrow joint spaces of the elbow, Dental crowding, Hypospadias, Precocious puberty, H... ORPHA:96182
Ogden Syndrome
Congenital hip dislocation, Bicuspid aortic valve, Cardiomegaly, Secundum atrial septal defect, D... OMIM:300855
Cerebrocostomandibular Syndrome
Hydranencephaly, Ventricular septal defect, Spina bifida, Myelomeningocele, Meningocele, Cleft pa... ORPHA:1393
Acrootoocular Syndrome
Delayed eruption of teeth, Short metacarpal, Small hypothenar eminence, Sandal gap, Decreased pal... ORPHA:2980
Pfeiffer Syndrome Type 3
Finger syndactyly, Broad hallux phalanx, Toe syndactyly, Intestinal malrotation, Short hallux, Ha... ORPHA:93260
Osteogenesis Imperfecta, Type Vii
Crumpled long bones, Rhizomelia, Protrusio acetabuli, Femoral retroversion, Micromelia, Bowing of... OMIM:610682
Mosaic Variegated Aneuploidy Syndrome 2
Atrial septal defect, Rhizomelia, Single transverse palmar crease, Ventricular septal defect, Nar... OMIM:614114
Lissencephaly Type 3-Metacarpal Bone Dysplasia Syndrome
Arthrogryposis multiplex congenita, Pulmonary hypoplasia ORPHA:86822
45,X/46,Xy Mixed Gonadal Dysgenesis
Bifid scrotum, Bicuspid aortic valve, Bilateral cryptorchidism, Epispadias, Ambiguous genitalia, ... ORPHA:1772
Congenital Heart Defects, Multiple Types, 3
Atrial septal defect, Tetralogy of Fallot, Persistent left superior vena cava, Abnormal heart mor... OMIM:614954
Neu-Laxova Syndrome
Skeletal muscle atrophy, Spina bifida, Flexion contracture, Muscular dystrophy, Pulmonary hypopla... ORPHA:2671
Cog1-Cdg
Rhizomelia, Coxa valga, Rib fusion, Posterior rib gap, Flat acetabular roof, Short long bone, Tal... ORPHA:263508
Helsmoortel-Van Der Aa Syndrome
High, narrow palate, Oligodontia, Widely spaced teeth, Short 4th toe, Atrial septal defect, Advan... OMIM:615873
Noonan Syndrome 10
Atrial septal defect, Ventricular septal defect, Cryptorchidism, Patent ductus arteriosus, Mitral... OMIM:616564
Frontal Encephalocele
Encephalocele, Hydrocephalus, Spina bifida ORPHA:1931
Hajdu-Cheney Syndrome
Downturned corners of mouth, Periodontitis, Partial absence of toe, Hypospadias, Open bite, Short... ORPHA:955
Spondyloepimetaphyseal Dysplasia, X-Linked
Pectus carinatum, Long fibula, Short palm, Short phalanx of finger, Broad metacarpals, Genu varum... OMIM:300106
Sotos Syndrome
Ventricular septal defect, High, narrow palate, Muscular ventricular septal defect, Long metacarp... OMIM:117550
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 2
Dental crowding, Hypospadias, Pierre-Robin sequence, Cleft palate, Short long bone, Oligodontia, ... OMIM:619184
Methylmalonic Acidemia With Homocystinuria
Hydrocephalus ORPHA:26
Hurler Syndrome
Recurrent respiratory infections, Hypoplasia of the femoral head, Coxa valga, Metaphyseal widenin... OMIM:607014
Dyssegmental Dysplasia, Silverman-Handmaker Type
Occipital encephalocele, Bowing of the long bones, Micromelia, Short long bone, Talipes equinovar... OMIM:224410
Ciliary Dyskinesia, Primary, 22
Recurrent respiratory infections, Dextrocardia, Situs inversus totalis, Bronchiectasis, Recurrent... OMIM:615444
Caudal Regression Syndrome
Decreased muscle mass, Pulmonary hypoplasia ORPHA:3027
Oliver Syndrome
Camptodactyly of finger, Short toe, Postaxial hand polydactyly, Elbow flexion contracture, Dental... ORPHA:2920
Absent Radius-Anogenital Anomalies Syndrome
Hydrocephalus, Hypoplasia of the radius, Rectal atresia, Perineal fistula, Ectrodactyly, Rectovag... ORPHA:3016
Tetrasomy 9P
Dental crowding, Downturned corners of mouth, High palate, Short philtrum, Clinodactyly of the 5t... ORPHA:3310
Lethal Acantholytic Erosive Disorder
Natal tooth, Cardiomegaly, 4-5 finger syndactyly, 2-3 finger syndactyly, Cleft palate, Cardiomyop... ORPHA:158687
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Microdeletion
Long toe, Overlapping toe, Single transverse palmar crease, Polyhydramnios, Pectus excavatum, Lar... ORPHA:254528
Ciliary Dyskinesia, Primary, 38
Situs inversus totalis, Bronchiectasis, Dextrocardia OMIM:618063
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency
Fused labia majora, High, narrow palate, Femoral bowing, Anteriorly placed anus, Abnormal ovarian... ORPHA:95699
Acrorenal-Mandibular Syndrome
Elbow flexion contracture, Pulmonary hypoplasia, Congenital diaphragmatic hernia OMIM:200980
Pontocerebellar Hypoplasia, Type 15
Hydrocephalus OMIM:619302
Pyruvate Dehydrogenase E1-Alpha Deficiency
Ventricular septal defect, Single transverse palmar crease, Increased CSF lactate, Lateral ventri... ORPHA:79243
Kleefstra Syndrome Due To 9Q34 Microdeletion
Hypoplasia of penis, Protruding tongue, Cryptorchidism, Conotruncal defect, Coarctation of aorta,... ORPHA:96147
Microcephaly-Thin Corpus Callosum-Intellectual Disability Syndrome
Hydrocephalus, Bicuspid aortic valve ORPHA:397951
Achondroplasia
Brachydactyly, Radial bowing, Rhizomelia, Short femur, Bowing of the legs, Ulnar bowing, Hydrocep... OMIM:100800
Alagille Syndrome 2
Atrial septal defect, Peripheral pulmonary artery stenosis, Tetralogy of Fallot, Pulmonic stenosis OMIM:610205
Mosaic Variegated Aneuploidy Syndrome 1
Bifid scrotum, Ventriculomegaly, Ambiguous genitalia, Hypospadias, Cryptorchidism, Hydrocephalus,... OMIM:257300
Congenital Primary Aphakia
Microphthalmia, Aplasia/Hypoplasia affecting the anterior segment of the eye, Congenital aphakia ORPHA:83461
Cleft, Median, Of Upper Lip With Polyps Of Facial Skin And Nasal Mucosa
Median cleft lip, High palate, Bifid uvula OMIM:155145
Neurodevelopmental Disorder With Microcephaly, Impaired Language, And Gait Abnormalities
Syndactyly, Clinodactyly OMIM:619091
15Q14 Microdeletion Syndrome
Ventricular septal defect, Abnormality of the dentition, Cleft palate, Short philtrum, Long philt... ORPHA:261190
Total Anomalous Pulmonary Venous Return 1
Recurrent respiratory infections, Total anomalous pulmonary venous return, Dextrocardia OMIM:106700
Marden-Walker Syndrome
Abnormal penis morphology, Arachnodactyly, Camptodactyly of finger, Ventricular septal defect, De... ORPHA:2461
Male Hypergonadotropic Hypogonadism-Intellectual Disability-Skeletal Anomalies Syndrome
Abnormal rib morphology, Abnormality of the humeroulnar joint ORPHA:2234
Radio-Tartaglia Syndrome
Thin upper lip vermilion, Ventricular septal defect, Dental crowding, Tapered finger, Precocious ... OMIM:619312
Rabson-Mendenhall Syndrome
Enlarged ovaries, Ventricular septal defect, Dental crowding, Abnormality of the dentition, Preco... ORPHA:769
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked
U-Shaped upper lip vermilion, Ventricular septal defect, Hypospadias, Coxa valga, Tapered finger,... OMIM:301040
Radio-Renal Syndrome
Micromelia, Hypoplasia of the radius, Abnormality of the elbow, Abnormal rib morphology, Chylotho... ORPHA:3015
Odontochondrodysplasia 1
Recurrent respiratory infections, Pulmonary hypoplasia, Dentinogenesis imperfecta OMIM:184260
Frontometaphyseal Dysplasia 1
Selective tooth agenesis, Limited elbow movement, Increased density of long bone diaphyses, High ... OMIM:305620
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 11
Microphthalmia, Hydrocephalus, Optic nerve hypoplasia OMIM:615181
Indomethacin Embryofetopathy
Atrial septal defect, Cardiomyopathy, Ventricular septal defect ORPHA:1909
Leopard Syndrome 1
Scapular winging, Hypospadias, Limited elbow movement, Complete atrioventricular canal defect, Cr... OMIM:151100
Lenz-Majewski Hyperostotic Dwarfism
Hyperextensibility of the finger joints, Syndactyly, Prominent scalp veins, Hypospadias, Aplasia/... OMIM:151050
Refsum Disease
Short metacarpal, Cardiomyopathy, Hammertoe, Abnormal epiphysis morphology, Microphthalmia ORPHA:773
Retinitis Pigmentosa 51
Polydactyly OMIM:613464
Arthrogryposis And Ectodermal Dysplasia
Abnormal dental enamel morphology, Cleft upper lip, Orofacial cleft, Cleft palate, Oligodontia, C... OMIM:601701
Hypoglossia-Hypodactyly Syndrome
Finger syndactyly, Brachydactyly, Jejunal atresia, Aplasia/Hypoplasia of the tongue, Adactyly, Sp... ORPHA:989
Ectodermal Dysplasia-Intellectual Disability-Central Nervous System Malformation Syndrome
Hypoplasia of penis, Sandal gap, Abnormal dental enamel morphology, Cryptorchidism, Hydrocephalus... ORPHA:1812
Endove Syndrome, Limb-Only Type
Short middle phalanx of the 2nd finger, Fibular hypoplasia, Disproportionate shortening of the ti... OMIM:619217
Intellectual Disability-Seizures-Abnormal Gait-Facial Dysmorphism Syndrome
Everted upper lip vermilion, Ventricular septal defect, Metatarsus adductus, Abnormality of the g... ORPHA:513456
Xylt1-Cdg
Coxa valga, Flared metaphysis, Short long bone, Short femoral neck, Short clavicles, Broad ribs, ... ORPHA:370930
Adams-Oliver Syndrome 5
Syndactyly, Brachydactyly, Esophageal varix, Pulmonic stenosis, Right ventricular hypertrophy, Um... OMIM:616028
Chops Syndrome
Ventricular septal defect, High, narrow palate, Patent ductus arteriosus, Cryptorchidism, Anomalo... OMIM:616368
Atrial Septal Defect, Ostium Primum Type
Recurrent respiratory infections, Left atrial enlargement, Clubbing of toes, Right ventricular di... ORPHA:99106
Hurler Syndrome
Recurrent respiratory infections, Abnormal heart valve morphology, Camptodactyly of finger, Hydro... ORPHA:93473
Alg9-Cdg
Omphalocele, Torticollis, Ventricular septal defect, Lipodystrophy, Hypoplasia of the musculature... ORPHA:79328
Delpire-Mcneill Syndrome
Ventricular septal defect, Hip dislocation, Tracheoesophageal fistula OMIM:619083
Developmental And Epileptic Encephalopathy 1
Microphthalmia, Micropenis, Ventriculomegaly OMIM:308350
Mucopolysaccharidosis, Type Vi
Delayed eruption of teeth, Epiphyseal dysplasia, Pneumonia, Carious teeth, Metaphyseal widening, ... OMIM:253200
Microform Holoprosencephaly
Hypoplasia of penis, Tented upper lip vermilion, Ambiguous genitalia, Orofacial cleft, Cleft pala... ORPHA:280200
X-Linked Mandibulofacial Dysostosis
Cryptorchidism, Branchial anomaly, High palate, Pulmonic stenosis, Abnormal mitral valve morpholo... ORPHA:1131
Pyknoachondrogenesis
Palpebral edema, Micromelia, Short iliac bones, Horizontal ribs, Short thorax, Abnormal iliac win... ORPHA:3003
Silver-Russell Syndrome 1
Syndactyly, Hypospadias, Short distal phalanx of the 5th finger, Downturned corners of mouth, Cli... OMIM:180860
Rhizomelic Skeletal Dysplasia With Or Without Pelger-Huet Anomaly
Femoral bowing, Short 5th metacarpal, Radial bowing, Broad hallux, Rhizomelia, Short femoral neck... OMIM:618019
Histiocytosis-Lymphadenopathy Plus Syndrome
Cardiomegaly, Joint contracture of the 5th finger, Atrial septal defect, Micropenis, Patent ductu... OMIM:602782
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency
Bicuspid aortic valve, Dental crowding, High palate, Atrial septal defect, Patent foramen ovale, ... ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations
Bicuspid aortic valve, Dental crowding, High palate, Atrial septal defect, Patent foramen ovale, ... ORPHA:353277
Chromosome 16P13.3 Duplication Syndrome
Tented upper lip vermilion, Proximal placement of thumb, Atrial septal defect, Microdontia, Bifid... OMIM:613458
Three M Syndrome 2
Scapular winging, Short thorax, Pectus carinatum, Thin ribs, Slender long bone, Short 5th finger,... OMIM:612921
Transposition Of The Great Arteries, Dextro-Looped
Transposition of the great arteries OMIM:608808
Microcephaly-Lymphedema-Chorioretinopathy Syndrome
Anophthalmia, Thick vermilion border, Chylothorax, Long philtrum, Atrial septal defect, Microphth... ORPHA:2526
Cole-Carpenter Syndrome
Communicating hydrocephalus, Crumpled long bones, Bowing of the long bones, Abnormal rib morpholo... ORPHA:2050
Ciliary Dyskinesia, Primary, 2
Situs inversus totalis, Recurrent respiratory infections, Bronchiectasis, Dextrocardia OMIM:606763
Hallermann-Streiff Syndrome
Natal tooth, Recurrent respiratory infections, Selective tooth agenesis, Abnormality of the hand,... OMIM:234100
Gm1 Gangliosidosis
Recurrent respiratory infections, Ventricular septal defect, Camptodactyly of finger, Patent duct... ORPHA:354
Hydrocephalus, Tall Stature, Joint Laxity, And Kyphoscoliosis
Hydrocephalus OMIM:236660
Manitoba Oculotrichoanal Syndrome
Anal stenosis, Anophthalmia, Anteriorly placed anus, Microphthalmia, Vaginal atresia OMIM:248450
Maternal Uniparental Disomy Of Chromosome 2
Contractures of the large joints, Respiratory infections in early life, Pulmonary hypoplasia ORPHA:96179
Beare-Stevenson Cutis Gyrata Syndrome
Bifid scrotum, Natal tooth, Overlapping toe, Hypospadias, Hydrocephalus, Gingival overgrowth, Nar... OMIM:123790
Fibular Aplasia, Tibial Campomelia, And Oligosyndactyly Syndrome
Syndactyly, Abnormality of the hand, Hand oligodactyly, Tibial bowing, Foot oligodactyly, Short t... OMIM:246570
Houge-Janssens Syndrome 1
Congenital hip dislocation, Pyloric stenosis, Hydrocephalus, Open mouth, Ventriculomegaly OMIM:616355
Developmental Delay With Or Without Intellectual Impairment Or Behavioral Abnormalities
Recurrent respiratory infections, Ventricular septal defect, High, narrow palate, Hydrocephalus, ... OMIM:619575
Mayer-Rokitansky-Küster-Hauser Syndrome Type 2
Abnormal rib morphology ORPHA:2578
Mitochondrial Short-Chain Enoyl-Coa Hydratase 1 Deficiency
Hypertrophic cardiomyopathy, Ventricular septal defect, Increased CSF lactate OMIM:616277
Primary Non-Essential Cutis Verticis Gyrata
Atrial septal defect, Keloids, Ventricular septal defect ORPHA:357225
Neu-Laxova Syndrome 2
Finger syndactyly, Toe syndactyly, Rocker bottom foot, Spina bifida, Cleft palate, High palate, V... OMIM:616038
Spondylometaphyseal Dysplasia, Sedaghatian Type
Short metacarpal, Iliac crest serration, Abnormal scapula morphology, Metaphyseal chondrodysplasi... ORPHA:93317
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome
Bicuspid aortic valve, Ventricular septal defect, Cryptorchidism, Cleft palate, Abnormal heart mo... ORPHA:453499
Cranioectodermal Dysplasia 2
Syndactyly, Rhizomelia, Postaxial hand polydactyly, Patent ductus arteriosus, Recurrent pneumonia... OMIM:613610
Costello Syndrome
Ventricular septal defect, Abnormal dental enamel morphology, Abnormality of the dentition, Crypt... ORPHA:3071
Acrodysostosis 1 With Or Without Hormone Resistance
Delayed eruption of teeth, Short metacarpal, Brachydactyly, Cryptorchidism, Hydrocephalus, Neonat... OMIM:101800
Mucopolysaccharidosis, Type Iva
Ulnar deviation of the wrist, Coxa valga, Epiphyseal deformities of tubular bones, Metaphyseal wi... OMIM:253000
Tetramelic Deficiencies, Ectodermal Dysplasia, Deformed Ears, And Other Abnormalities
Abnormality of the dentition, Hypogonadism, Cleft upper lip OMIM:273400
Cataract 9, Multiple Types
Microphthalmia OMIM:604219
8Q22.1 Microdeletion Syndrome
Finger syndactyly, Sandal gap, Camptodactyly of finger, Abnormality of the dentition, Cryptorchid... ORPHA:178303
Neurooculorenal Syndrome
Ventriculomegaly, Dextrocardia, Short hallux, Intestinal malrotation, Aqueductal stenosis, Crypto... OMIM:620305
Meckel Syndrome, Type 7
Situs inversus totalis, Patent ductus arteriosus, Choroid plexus cyst, Postaxial foot polydactyly... OMIM:267010
Band Heterotopia
Hydrocephalus, Ventriculomegaly, Lateral ventricle dilatation OMIM:600348
Gaucher Disease, Perinatal Lethal
Arthrogryposis multiplex congenita, Pulmonary hypoplasia, Cardiomegaly OMIM:608013
Postaxial Polydactyly-Dental And Vertebral Anomalies Syndrome
Vaginal hernia, Macrodontia, Abnormal dental enamel morphology, Elbow dislocation, Postaxial hand... ORPHA:2916
Van Den Ende-Gupta Syndrome
Glenoid fossa hypoplasia, Lateral clavicle hook, 2-3 toe cutaneous syndactyly, Femoral bowing, Ca... OMIM:600920
Nijmegen Breakage Syndrome
Anal stenosis, Sandal gap, Recurrent bronchitis, Cleft upper lip, Deep philtrum, Recurrent pneumo... OMIM:251260
Codas Syndrome
Delayed eruption of teeth, Short humerus, Short metacarpal, Congenital hip dislocation, Metaphyse... OMIM:600373
Beaulieu-Boycott-Innes Syndrome
Ventricular septal defect, Endometriosis, Carious teeth, Velopharyngeal insufficiency, Patent duc... OMIM:613680
Esophageal Atresia
Recurrent respiratory infections, Barrett esophagus, Ventricular septal defect, Intestinal malrot... ORPHA:1199
Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome
Thin upper lip vermilion, Congenital hip dislocation, Bicuspid aortic valve, Ventricular septal d... ORPHA:457279
Pontocerebellar Hypoplasia, Type 7
Single transverse palmar crease, Cryptorchidism, Deep philtrum, Hydrocephalus, High palate, Tongu... OMIM:614969
Fixed Subaortic Stenosis
Bicuspid aortic valve, Ventricular septal defect, Cardiomegaly, Patent ductus arteriosus, Abnorma... ORPHA:3092
Ossification Anomalies-Psychomotor Developmental Delay Syndrome
Metaphyseal widening, Abnormal thorax morphology, Triangular shaped distal phalanges of the hand,... ORPHA:73230
Cerebrofacioarticular Syndrome
Syndactyly, Irregular dentition, Anal stenosis, Hypospadias, Narrow mouth, Abnormal heart morphol... ORPHA:314679
Degcags Syndrome
High palate, Atrial septal defect, Patent foramen ovale, Syndactyly, Hypospadias, Hiatus hernia, ... OMIM:619488
Chromosome 4Q32.1-Q32.2 Triplication Syndrome
Aganglionic megacolon, Tapered finger, Intraventricular hemorrhage, Hydrocephalus, Hydrocele test... OMIM:613603
Noonan Syndrome 2
Atrial septal defect, Abnormal coronary artery origin, Mitral stenosis, Ventricular septal defect... OMIM:605275
Osteogenesis Imperfecta, Type Xvi
Angulated humerus, Multiple rib fractures, Bowing of the long bones, Rhizomelia, Beaded ribs, Sho... OMIM:616229
Branchiooculofacial Syndrome
Anophthalmia, Hypospadias, Single transverse palmar crease, Proximal placement of thumb, Cleft up... OMIM:113620
Kinsship Syndrome
Thin upper lip vermilion, Ventriculomegaly, Single transverse palmar crease, Coxa valga, Thick lo... OMIM:619297
Central Precocious Puberty In Male
Hydrocephalus, Abnormality of the testis size, Precocious puberty in males ORPHA:649929
Skin Creases, Congenital Symmetric Circumferential, 2
Thin upper lip vermilion, Small scrotum, Hypospadias, Tapered finger, Microdontia, Long fingers, ... OMIM:616734
Laryngotracheoesophageal Cleft Type 4
Abnormal lower motor neuron morphology, Abnormal rib morphology ORPHA:93941
Premature Aging Syndrome, Penttinen Type
Delayed eruption of teeth, Brachydactyly, Prominent superficial veins, Narrow philtrum, Palmoplan... OMIM:601812
Joubert Syndrome 30
Postaxial hand polydactyly, Dandy-Walker malformation, Ventriculomegaly OMIM:617622
Okamoto Syndrome
Exaggerated median tongue furrow, Anal stenosis, Tented upper lip vermilion, Ventricular septal d... ORPHA:2729
15Q Overgrowth Syndrome
Smooth philtrum, Contracture of the proximal interphalangeal joint of the 2nd finger, Arachnodact... ORPHA:314585
Distal Duplication 17Q
Hallux valgus, Thin upper lip vermilion, Rhizomelia, Overlapping toe, Arachnodactyly, Cryptorchid... ORPHA:3379
Coffin-Siris Syndrome
Delayed eruption of teeth, Thin upper lip vermilion, Dandy-Walker malformation, Ventricular septa... ORPHA:1465
Dubowitz Syndrome
Aplasia/Hypoplasia of the thumb, Abnormality of thumb phalanx, Rectal prolapse, High palate, Clin... ORPHA:235
Lung Agenesis, Congenital Heart Defects, And Thumb Anomalies Syndrome
Bilateral lung agenesis, Abnormal cardiac septum morphology OMIM:601612
Noonan Syndrome
Hypogonadotropic hypogonadism, Abnormal pulmonary valve morphology, Cryptorchidism, Pulmonary art... ORPHA:648
Lathosterolosis
Toe syndactyly, Foam cells with lamellar inclusion bodies, Postaxial hand polydactyly, Myelomenin... OMIM:607330
Prader-Willi Syndrome
Small scrotum, External genital hypoplasia, Downturned corners of mouth, Clitoral hypoplasia, Sho... OMIM:176270
Sacral Defect With Anterior Meningocele
Myeloschisis, Tethered cord, Myelomeningocele, Hydrocephalus, Meningocele, Dermal sinus tract, Bi... OMIM:600145
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 1, With Or Without Fractures
Bicuspid aortic valve, Metaphyseal widening, Delayed proximal femoral epiphyseal ossification, Hi... OMIM:271640
Dural Sinus Malformation
Cerebral hemorrhage, Subarachnoid hemorrhage, Myelopathy, Cerebellar hemorrhage, Hydrocephalus, S... ORPHA:97339
Pili Torti-Onychodysplasia Syndrome
Cleft lip, Palmoplantar keratoderma, Cleft palate, Cutaneous syndactyly ORPHA:2890
Momo Syndrome
Delayed eruption of teeth, Bilateral microphthalmos, Thick lower lip vermilion, Dental malocclusi... ORPHA:2563
Cobblestone Lissencephaly Without Muscular Or Ocular Involvement
Occipital encephalocele, Hydrocephalus ORPHA:352682
Multiple Pterygium-Malignant Hyperthermia Syndrome
Finger syndactyly, Small scrotum, Arachnodactyly, Long palm, Camptodactyly of finger, Tapered fin... ORPHA:2215
Fetal Akinesia Deformation Sequence 1
Hip contracture, Decreased muscle mass, Elbow contracture, Camptodactyly of finger, Hydrocephalus... OMIM:208150
Phace Syndrome
Optic nerve hypoplasia, Cerebral arteriovenous malformation, Lens coloboma, Abnormal heart morpho... ORPHA:42775
Zimmermann-Laband Syndrome 1
Delayed eruption of teeth, Hyperextensibility of the finger joints, Aortic arch aneurysm, Patent ... OMIM:135500
Ankyloblepharon Filiforme Adnatum-Cleft Palate Syndrome
Cleft palate, Non-midline cleft lip, Lip pit ORPHA:1072
Kawasaki Disease
Glossitis, Pericarditis, Abnormal heart valve morphology, Myocarditis, Recurrent pharyngitis, Vas... ORPHA:2331
Retinal Degeneration With Nanophthalmos, Cystic Macular Degeneration, And Angle Closure Glaucoma
Microphthalmia OMIM:267760
Stickler Syndrome
Recurrent respiratory infections, Arachnodactyly, Protrusio acetabuli, Abnormal dental enamel mor... ORPHA:828
Oculotrichoanal Syndrome
Anteriorly placed anus, Microphthalmia, Anal stenosis, Anophthalmia ORPHA:2717
Antley-Bixler Syndrome
Arachnodactyly, Camptodactyly of finger, Abnormal rib morphology, Femoral bowing, Narrow pelvis b... ORPHA:83
X-Linked Dominant Chondrodysplasia Punctata
Abnormal lung morphology, Neonatal epiphyseal stippling, Hip dislocation, Upper limb asymmetry, E... ORPHA:35173
Lhermitte-Duclos Disease
Macroglossia, Hydrocephalus, Hand polydactyly, Ovarian neoplasm ORPHA:65285
Phosphoribosylaminoimidazole Carboxylase Deficiency
Polyhydramnios, Missing ribs, Neonatal death, Talipes equinovarus, Clinodactyly of the 5th finger OMIM:619859
Nasu-Hakola Disease
Hydrocephalus, Abnormal epiphysis morphology, Ventriculomegaly ORPHA:2770
Mucopolysaccharidosis, Type Ivb
Ulnar deviation of the wrist, Coxa valga, Epiphyseal deformities of tubular bones, Metaphyseal wi... OMIM:253010
Autosomal Recessive Malignant Osteopetrosis
Delayed eruption of teeth, Recurrent respiratory infections, Bowing of the long bones, Abnormal p... ORPHA:667
Visceral Neuropathy-Brain Anomalies-Facial Dysmorphism-Developmental Delay Syndrome
Finger syndactyly, Toe syndactyly, Intestinal pseudo-obstruction, Arachnodactyly, Cryptorchidism,... ORPHA:73246
Cerebellar-Facial-Dental Syndrome
Ventricular septal defect, Single transverse palmar crease, Tapered finger, Cryptorchidism, Denta... ORPHA:444072
47,Xyy Syndrome
Hypospadias, Cryptorchidism, Hydrocephalus, Oligozoospermia, Finger clinodactyly, Azoospermia, Ma... ORPHA:8
Fanconi Anemia, Complementation Group L
Absent thumb, Absent radius, Esophageal atresia, Hydrocephalus, Tracheoesophageal fistula, Cleft ... OMIM:614083
Cardiospondylocarpofacial Syndrome
Tarsal synostosis, Rib fusion, Cone-shaped epiphysis, Short foot, Pseudoepiphyses, Carpal synosto... OMIM:157800
Hyperparathyroidism, Transient Neonatal
Communicating hydrocephalus, Short femur, Metaphyseal spurs, Polyhydramnios, Undulate ribs, Femor... OMIM:618188
Raine Syndrome
Natal tooth, Bowing of the long bones, Micromelia, Protruding tongue, Hydrocephalus, Gingival ove... OMIM:259775
Duane Retraction Syndrome
Aplasia/Hypoplasia of the thumb, Optic disc hypoplasia, Absent radius, Preaxial hand polydactyly,... ORPHA:233
Neural Tube Defects, Susceptibility To
Spina bifida occulta, Hydrocephalus, Myelomeningocele, Anencephaly OMIM:182940
Cataracts, Growth Hormone Deficiency, Sensory Neuropathy, Sensorineural Hearing Loss, And Skeletal Dysplasia
Congenital hip dislocation, Tapered finger, Delayed epiphyseal ossification, Hydrocephalus, Flare... OMIM:616007
Noonan Syndrome With Multiple Lentigines
Abnormal endocardium morphology, Scapular winging, Hypospadias, Abnormal pulmonary valve morpholo... ORPHA:500
Robin Sequence With Cleft Mandible And Limb Anomalies
Proximal placement of thumb, Aplasia of the epiglottis, High palate, Clinodactyly of the 5th fing... OMIM:268305
Osteogenesis Imperfecta, Type X
Multiple rib fractures, Bowing of the long bones, Short femur, Rhizomelia, Thoracic scoliosis, Mi... OMIM:613848
Short Stature, Developmental Delay, And Congenital Heart Defects
Atrial septal defect, Patent foramen ovale, Patent ductus arteriosus, Ventricular septal defect OMIM:617044
Aortic Aneurysm, Familial Thoracic 10
Aortic arch aneurysm, Bicuspid aortic valve, Dental crowding, Thoracic aortic aneurysm, Fusiform ... OMIM:617168
Craniodigital-Intellectual Disability Syndrome
Finger syndactyly, Spina bifida occulta ORPHA:1514
Neurodevelopmental Disorder With Hypotonia And Brain Abnormalities
Atrial septal defect, Congenital hip dislocation, Exaggerated cupid's bow, Dilation of Virchow-Ro... OMIM:619512
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion
Bicuspid aortic valve, Dental crowding, Atrial septal defect, Broad hallux, Hypospadias, Cryptorc... ORPHA:353281
Lethal Congenital Contracture Syndrome 5
Death in infancy, Polyhydramnios, Thin ribs OMIM:615368
Warburg Micro Syndrome 2
Small scrotum, Overlapping toe, Cryptorchidism, Hypoplastic labia majora, Microphthalmia, Micrope... OMIM:614225
Adnp Syndrome
Thin upper lip vermilion, Ventriculomegaly, Broad hallux, Single transverse palmar crease, Sandal... ORPHA:404448
Ulnar-Mammary Syndrome
Deformed radius, Small scrotum, Aplasia of the 3rd metacarpal, Aplasia of the 4th metacarpal, Apl... OMIM:181450
Cutis Gyrata-Acanthosis Nigricans-Craniosynostosis Syndrome
Bifid scrotum, Palmoplantar cutis gyrata, Cryptorchidism, Hydrocephalus, Narrow palate, Cleft pal... ORPHA:1555
Kabuki Syndrome 1
Congenital hip dislocation, Premature thelarche, High palate, Atrial septal defect, Prominent fin... OMIM:147920
Coach Syndrome 1
Encephalocele, Occipital encephalocele, Postaxial hand polydactyly, Esophageal varix, Wide mouth,... OMIM:216360
Senior-Loken Syndrome 8
Polydactyly, Vascular dilatation OMIM:616307
Vertebral Hypersegmentation And Orofacial Anomalies
Scapular winging, Submucous cleft hard palate, Unilateral cleft lip, Unilateral cleft palate OMIM:619122
Congenital Anomalies Of Kidney And Urinary Tract Syndrome With Or Without Hearing Loss, Abnormal Ears, Or Developmental Delay
Congenital diaphragmatic hernia, Abnormal heart morphology OMIM:617641
Cerebrocostomandibular Syndrome
Short humerus, Atrial septal defect, Congenital hip dislocation, Calcaneal epiphyseal stippling, ... OMIM:117650
Myotubular Myopathy With Abnormal Genital Development
Neonatal death, Death in infancy, Polyhydramnios, Thin ribs OMIM:300219
Alexander Disease
Hydrocephalus, Increased CSF protein concentration OMIM:203450
Dyrk1A-Related Intellectual Disability Syndrome
Hallux valgus, Toe syndactyly, Arachnodactyly, Ventricular septal defect, Hypospadias, Pyloric st... ORPHA:464306
Hypomelia With Mullerian Duct Anomalies
Postaxial hand polydactyly, Split hand, Uterus didelphys, Longitudinal vaginal septum OMIM:146160
Peroxisome Biogenesis Disorder 1A (Zellweger)
Macroglossia, Ventricular septal defect, Pulmonary hypoplasia OMIM:214100
Cartilage-Hair Hypoplasia
Micromelia, Metaphyseal chondrodysplasia, Tibial bowing, Pectus carinatum, Narrow chest, Short pa... ORPHA:175
Histiocytoid Cardiomyopathy
Ventricular septal defect, Cardiomegaly, Hydrocephalus, Cleft palate, Stroke-like episode, Polycy... ORPHA:137675
Frontometaphyseal Dysplasia
Single transverse palmar crease, Limited elbow movement, Metaphyseal widening, Short metatarsal, ... ORPHA:1826
Mowat-Wilson Syndrome
Delayed eruption of teeth, Bifid scrotum, Ventricular septal defect, Aganglionic megacolon, Pulmo... OMIM:235730
Proteus-Like Syndrome
Communicating hydrocephalus, Open bite, Venous insufficiency, Hydrocephalus, Polycystic ovaries, ... ORPHA:2969
Brachydactyly-Short Stature-Retinitis Pigmentosa Syndrome
Hallux valgus, Short metacarpal, Ventricular septal defect, Metaphyseal chondrodysplasia, Cryptor... ORPHA:166035
Ohdo Syndrome, Sbbys Variant
Thin upper lip vermilion, Hypospadias, Cryptorchidism, Dilated cardiomyopathy, Cleft palate, Micr... OMIM:603736
Thiamine-Responsive Megaloblastic Anemia Syndrome
Ventricular septal defect, Situs inversus totalis, Cryptorchidism, Cardiomyopathy, Stroke, Atrial... OMIM:249270
Intellectual Disability-Myopathy-Short Stature-Endocrine Defect Syndrome
Clinodactyly of the 5th finger, Abnormal rib morphology, Abnormal hip bone morphology, Pectus car... ORPHA:3068
Lymphatic Malformation 7
Nonimmune hydrops fetalis, Edema, Lymphedema, Facial edema, Pericardial effusion, Increased nucha... OMIM:617300
Cutis Laxa, Autosomal Dominant 1
Ventricular septal defect, Bronchiectasis, Long philtrum, Uterine prolapse, Emphysema, Peripheral... OMIM:123700
Bardet-Biedl Syndrome 12
Postaxial hand polydactyly, Hydrometrocolpos, Postaxial foot polydactyly, Polydactyly, Hypogonadi... OMIM:615989
Phocomelia, Schinzel Type
Bowing of the long bones, Radial bowing, Hypoplasia of penis, Micromelia, Aplasia of the ulna, Hi... ORPHA:2879
Dysosteosclerosis
Clavicular sclerosis, Sclerotic scapulae, Flared metaphysis, Abnormal metaphyseal trabeculation, ... OMIM:224300
Fanconi Anemia, Complementation Group E
Hypergonadotropic hypogonadism, Absent thumb, Absent radius, Short thumb, Cryptorchidism, Abnorma... OMIM:600901
Ctcf-Related Neurodevelopmental Disorder
Single transverse palmar crease, Short philtrum, Joint contracture of the 5th finger, Atrial sept... ORPHA:363611
Charcot-Marie-Tooth Disease, Type 4B3
Syndactyly OMIM:615284
Neurodevelopmental Disorder With Coarse Facies And Mild Distal Skeletal Abnormalities
Syndactyly, Abnormality of the dentition, Cryptorchidism, Broad palm, Wide mouth, Thick vermilion... OMIM:618505
Aniridia-Cerebellar Ataxia-Intellectual Disability Syndrome
Aniridia, Abnormality of the pulmonary artery ORPHA:1065
Immunodeficiency 49
Natal tooth, Pulmonary artery stenosis, Umbilical hernia, Short philtrum OMIM:617237
Den Hoed-De Boer-Voisin Syndrome
Delayed eruption of teeth, Lactose intolerance, Ventriculomegaly, Ventricular septal defect, Sand... OMIM:619229
Microcephaly With Or Without Chorioretinopathy, Lymphedema, Or Impaired Intellectual Development
Thin upper lip vermilion, Deep philtrum, Thick lower lip vermilion, Long philtrum, Microphthalmia OMIM:152950
2,4-Dienoyl-Coa Reductase Deficiency
Hydrocephalus, Increased CSF lactate, Colpocephaly, Increased CSF lysine concentration, Ventricul... OMIM:616034
Severe Microbrachycephaly-Intellectual Disability-Athetoid Cerebral Palsy Syndrome
Camptodactyly of finger, Lip pit, Tapered finger, Hypodontia, Microphthalmia, Broad thumb, Abnorm... ORPHA:1236
Hydrocephalus, Congenital, 2, With Or Without Brain Or Eye Anomalies
Communicating hydrocephalus, Hydrocephalus, Colpocephaly, Macular hypoplasia, Atrial septal defec... OMIM:615219
Spondyloepiphyseal Dysplasia With Congenital Joint Dislocations
Tibial bowing, Shoulder dislocation, High palate, Widely spaced teeth, Microdontia, Short phalanx... OMIM:143095
Polydactyly, Postaxial, Type A6
Postaxial foot polydactyly, Postaxial hand polydactyly, Broad phalanges of the 5th finger OMIM:615226
Zttk Syndrome
Short foot, Rib fusion, Cervical ribs, Small hand OMIM:617140
Rubinstein-Taybi Syndrome
Finger syndactyly, Broad hallux phalanx, Abnormal distal phalanx morphology of finger, Abnormalit... ORPHA:783
Frontonasal Dysplasia 3
Microphthalmia, Cleft palate OMIM:613456
Spondylodysplastic Ehlers-Danlos Syndrome
Atrial septal defect, Inguinal hernia, Multiple joint contractures, Abnormal heart valve morpholo... ORPHA:536471
Frontometaphyseal Dysplasia 2
Congenital hip dislocation, Bicuspid aortic valve, Deep philtrum, Short metatarsal, Finger clinod... OMIM:617137
Joubert Syndrome With Oculorenal Defect
Encephalocele, Aganglionic megacolon, Hydrocephalus, Hand polydactyly, Foot polydactyly ORPHA:2318
Ulna And Fibula, Absence Of, With Severe Limb Deficiency
Femoral bowing, Pectus carinatum, Foot oligodactyly, Aplasia/Hypoplasia of the tarsal bones, Phoc... OMIM:276820
Cardiofaciocutaneous Syndrome 1
Hyperextensibility of the finger joints, Atrial septal defect, Abnormality of the dentition, Open... OMIM:115150
Colobomatous Microphthalmia-Obesity-Hypogenitalism-Intellectual Disability Syndrome
Microphthalmia, Hypogonadism, External genital hypoplasia, Cryptorchidism ORPHA:363741
Holoprosencephaly 4
Semilobar holoprosencephaly, Median cleft lip, Median cleft lip and palate OMIM:142946
Congenital Disorder Of Glycosylation, Type Iia
Ventricular septal defect, Macrodontia, Proximal placement of thumb, Coxa valga, Diastema, Protru... OMIM:212066
Tall Stature-Intellectual Disability-Renal Anomalies Syndrome
Ventricular septal defect, Abnormal thumb morphology, Metatarsus adductus, Abnormal right ventric... ORPHA:500095
Diamond-Blackfan Anemia 12
Ventricular septal defect, Triphalangeal thumb OMIM:615550
Unilateral Ocular Duplication
Encephalocele, Median cleft lip, Cleft palate ORPHA:3374
Distichiasis With Congenital Anomalies Of The Heart And Peripheral Vasculature
Varicose veins, Patent ductus arteriosus, Ventricular septal defect, Peripheral arterial stenosis OMIM:126320
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 3
Anal stenosis, Toe syndactyly, Absence of Stensen duct, Selective tooth agenesis, Hypogonadotropi... OMIM:604292
Mucopolysaccharidosis Type 4
Bowing of the long bones, Coxa valga, Short thorax, Abnormal rib morphology, Genu valgum, Pectus ... ORPHA:582
Short Stature, Optic Nerve Atrophy, And Pelger-Huet Anomaly
Syndactyly, Broad hallux, Single transverse palmar crease, Micromelia, Sandal gap, Thin vermilion... OMIM:614800
Noonan Syndrome 9
Cryptorchidism, Ventricular septal defect, Pulmonic stenosis, Coarctation of aorta OMIM:616559
Semilobar Holoprosencephaly
Median cleft lip, Hydrocephalus, Hip dislocation, Cleft palate, Abnormal heart morphology, Neural... ORPHA:220386
Alobar Holoprosencephaly
Median cleft lip, Hydrocephalus, Hip dislocation, Cleft palate, Abnormal heart morphology, Neural... ORPHA:93925
Midline Interhemispheric Variant Of Holoprosencephaly
Median cleft lip, Hydrocephalus, Hip dislocation, Cleft palate, Abnormal heart morphology, Neural... ORPHA:93926
Lobar Holoprosencephaly
Median cleft lip, Hydrocephalus, Hip dislocation, Cleft palate, Abnormal heart morphology, Neural... ORPHA:93924
Triokinase And Fmn Cyclase Deficiency Syndrome
Microphthalmia, Dilated cardiomyopathy OMIM:618805
Bent Bone Dysplasia Syndrome 2
Ulnar deviation of the hand, Bowed humerus, Ulnar bowing, Femoral bowing, Thin ribs, Short sternu... OMIM:620076
Gastrointestinal Defects And Immunodeficiency Syndrome 2
Pulmonary hypoplasia, Interstitial emphysema, Bronchiectasis, Knee flexion contracture OMIM:619708
Fanconi Anemia, Complementation Group A
Hypergonadotropic hypogonadism, Absent thumb, Absent radius, Short thumb, Cryptorchidism, Abnorma... OMIM:227650
Fibromuscular Dysplasia, Multifocal
Tortuous cerebral arteries, Dental crowding, Hiatus hernia, Vertebral artery tortuosity, Celiac a... OMIM:619329
Fraser Syndrome 3
Hypoplasia of penis, Small scrotum, Short toe, Hydrocephalus, Abnormal lung lobation, Cutaneous s... OMIM:617667
Schizophrenia 1
Syndactyly, Short proximal phalanx of the 4th toe OMIM:181510
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis
Ventriculomegaly, Tented upper lip vermilion, Metaphyseal widening, Hydrocephalus, Diaphyseal scl... OMIM:618476
Nasopalpebral Lipoma-Coloboma Syndrome
Clinodactyly of the 5th finger, Microphthalmia OMIM:167730
Plaa-Associated Neurodevelopmental Disorder
Hyperextensibility of the finger joints, Ventriculomegaly, Tented upper lip vermilion, Single tra... ORPHA:521426
Congenital Alveolar Capillary Dysplasia
Bicuspid aortic valve, Ventricular septal defect, Aganglionic megacolon, Intestinal malrotation, ... ORPHA:210122
Autosomal Dominant Robinow Syndrome
Hypoplasia of penis, Micromelia, High, narrow palate, Abnormality of the gingiva, Epispadias, Cox... ORPHA:3107
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7
Encephalocele, Ventriculomegaly, Optic nerve hypoplasia, Hydrocephalus, Microphthalmia, Dandy-Wal... OMIM:614643
Craniometadiaphyseal Dysplasia, Wormian Bone Type
Coxa valga, Short tubular bones of the hand, Abnormal diaphysis morphology, Overtubulated long bo... ORPHA:85184
Lissencephaly 5
Occipital encephalocele, Hydrocephalus OMIM:615191
Multiple Osteochondromas
Deformed radius, Abnormal hand morphology, Abnormal tibia morphology, Metaphyseal widening, Abnor... ORPHA:321
Juvenile Polyposis/Hereditary Hemorrhagic Telangiectasia Syndrome
Juvenile gastrointestinal polyposis, Cerebral arteriovenous malformation, Pulmonary arteriovenous... OMIM:175050
Coffin-Siris Syndrome 1
Single transverse palmar crease, Conical tooth, Prominent interphalangeal joints, Short philtrum,... OMIM:135900
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome
Tapered finger, Microdontia, Cryptorchidism, Patent ductus arteriosus, Small hand, Hip dysplasia,... OMIM:620005
Hardikar Syndrome
Ventricular septal defect, Cleft soft palate, Intestinal malrotation, Celiac disease, Patent duct... OMIM:301068
Dysosteosclerosis
Delayed eruption of teeth, Ventricular septal defect, Abnormal dental enamel morphology, Abnormal... ORPHA:1782
Acquired Aneurysmal Subarachnoid Hemorrhage
Cerebral hemorrhage, Hydrocephalus, Hyperglycorrhachia, Increased CSF lactate, Ischemic stroke, L... ORPHA:90065
Joubert Syndrome 21
Encephalocele, Occipital encephalocele, Anophthalmia, Pulmonary hypoplasia OMIM:615636
Mowat-Wilson Syndrome Due To Monosomy 2Q22
Bifid scrotum, Bicuspid aortic valve, Dental crowding, Cleft hard palate, Calcaneovalgus deformit... ORPHA:261537
Aicardi-Goutieres Syndrome 4
Hydrocephalus, Ventriculomegaly, CSF lymphocytic pleiocytosis OMIM:610333
Atrial Septal Defect 1
Tetralogy of Fallot with pulmonary atresia, Ventricular septal defect, Bicuspid aortic valve, Sec... OMIM:108800
Lymphangiectasia, Pulmonary, Congenital
Palpebral edema, Nonimmune hydrops fetalis, Polyhydramnios, Edema, Pectus excavatum, Facial edema... OMIM:265300
Phelan-Mcdermid Syndrome
Ventricular septal defect, Patent ductus arteriosus, Dental malocclusion, 2-3 toe syndactyly, Lar... OMIM:606232
Cardiofaciocutaneous Syndrome
Abnormal heart valve morphology, Abnormal morphology of ulna, Cryptorchidism, Hydrocephalus, Subm... ORPHA:1340
Osteogenesis Imperfecta
Abnormality of dental color, Micromelia, Abnormal tibia morphology, Abnormal femur morphology, Fe... ORPHA:666
Warburg Micro Syndrome 4
Small scrotum, Narrow mouth, Cryptorchidism, Long philtrum, Microphthalmia, Micropenis, Decreased... OMIM:615663
Joubert Syndrome 33
Syndactyly OMIM:617767
Camptodactyly-Joint Contractures-Facial Skeletal Defects Syndrome
Finger syndactyly, Camptodactyly of finger, Narrow palate, Abnormal hip bone morphology, Narrow m... ORPHA:1323
Cardiofaciocutaneous Syndrome 3
Ventricular septal defect, Wide mouth, Pulmonic stenosis, Atrial septal defect, Hypertrophic card... OMIM:615279
Cutis Marmorata Telangiectatica Congenita
Finger syndactyly, Toe syndactyly, Patent ductus arteriosus, Arterial stenosis, Orofacial cleft, ... ORPHA:1556
Thiamine-Responsive Megaloblastic Anemia Syndrome
Atrial septal defect, Stroke, Ventricular septal defect ORPHA:49827
Methylcobalamin Deficiency Type Cble
Syndactyly, Clinodactyly, Hydrocephalus, Ventriculomegaly ORPHA:2169
Pulmonary Capillary Hemangiomatosis
Pulmonary edema, Diffuse alveolar hemorrhage, Pericardial effusion, Pulmonary capillary hemangiom... ORPHA:199241
Meier-Gorlin Syndrome 1
Lateral clavicle hook, Flat glenoid fossa, Pectus carinatum, Cutaneous finger syndactyly, Short p... OMIM:224690
Hydrocephalus, Endocardial Fibroelastosis, And Cataracts
Communicating hydrocephalus, Endocardial fibroelastosis OMIM:600559
Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 1
Proximal radio-ulnar synostosis, Syndactyly, Radial bowing, Ulnar bowing, Hip dislocation, Clinod... OMIM:605432
Achondrogenesis
Aplasia/Hypoplasia of the lungs, Umbilical hernia, Inguinal hernia ORPHA:932
Mckusick-Kaufman Syndrome
Syndactyly, Congenital hip dislocation, Aganglionic megacolon, Mesoaxial hand polydactyly, Crypto... OMIM:236700
Larsen Syndrome
Finger syndactyly, Cryptorchidism, Accessory carpal bones, Cleft palate, Abnormal epiphysis morph... ORPHA:503
Contractures, Pterygia, And Spondylocarpotarsal Fusion Syndrome 1A
Hip contracture, Ventricular septal defect, Tarsal synostosis, Elbow flexion contracture, Cleft p... OMIM:178110
Chromosome 14Q11-Q22 Deletion Syndrome
Lateral ventricular asymmetry, Ventricular septal defect, Unilateral cryptorchidism, Bilateral cr... OMIM:613457
Monosomy 9P
Hypospadias, Proximal placement of thumb, Abnormality of the dentition, Abnormality of the tarsal... ORPHA:261112
Galloway-Mowat Syndrome 1
Ventriculomegaly, Hiatus hernia, Hypoplasia of the iris, Wide mouth, High palate, Talipes equinov... OMIM:251300
Intellectual Developmental Disorder, X-Linked, Syndromic 34
Hallux valgus, Ventricular septal defect, Left ventricular noncompaction cardiomyopathy, Dental c... OMIM:300967
Proliferative Vasculopathy And Hydranencephaly-Hydrocephaly Syndrome
Ventriculomegaly, Hydrocephalus, Cleft palate, Hydranencephaly, Dandy-Walker malformation OMIM:225790
Faciocardiomelic Syndrome
Dental malocclusion, Wide mouth, Slender long bone, Polydactyly, Hypoplastic pelvis, Long philtru... OMIM:612731
Diaphanospondylodysostosis
Inguinal hernia, Pulmonary hypoplasia OMIM:608022
Cryptorchidism-Arachnodactyly-Intellectual Disability Syndrome
Aplasia/Hypoplasia of the lungs, Recurrent respiratory infections ORPHA:1548
Fanconi Anemia, Complementation Group C
Ventricular septal defect, Hypergonadotropic hypogonadism, Absent thumb, Absent radius, Short thu... OMIM:227645
Dubowitz Syndrome
Delayed eruption of teeth, Syndactyly, Hypospadias, Single transverse palmar crease, Carious teet... OMIM:223370
Boomerang Dysplasia
Absent radius, Hypoplastic iliac body, Neonatal death, Fibular aplasia OMIM:112310
Lathosterolosis
Hypoplasia of penis, Toe syndactyly, Postaxial hand polydactyly, Meningocele, Gingival overgrowth... ORPHA:46059
Noonan Syndrome 4
Ventricular septal defect, Cryptorchidism, Dental malocclusion, Wide mouth, Thick vermilion borde... OMIM:610733
Oculo-Palato-Cerebral Syndrome
High, narrow palate, Small hand, Cleft palate, Short foot, Microphthalmia ORPHA:2714
Pontocerebellar Hypoplasia, Type 8
Ventricular septal defect, Tented upper lip vermilion, Patent foramen ovale, Talipes equinovarus OMIM:614961
Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion
Premature thelarche, Widely spaced teeth, Micropenis, Hypospadias, Cleft soft palate, Tapered fin... ORPHA:268261
Incontinentia Pigmenti
Delayed eruption of teeth, Finger syndactyly, Abnormal dental morphology, Camptodactyly of finger... ORPHA:464
Orofaciodigital Syndrome Xvi
Postaxial foot polydactyly, Postaxial hand polydactyly, Ventriculomegaly, Hamartoma of tongue OMIM:617563
Oculocerebral Hypopigmentation Syndrome, Preus Type
High palate, Hydrocephalus, Arachnodactyly, Abnormal hip bone morphology ORPHA:2720
Tbck-Related Intellectual Disability Syndrome
Broad toe, Tented upper lip vermilion, Ventricular septal defect, High, narrow palate, Cryptorchi... ORPHA:488632
Neurodevelopmental Disorder With Brain Anomalies, Seizures, And Scoliosis
Thin upper lip vermilion, Hydrocephalus, Downturned corners of mouth, Slender long bone, Wide mou... OMIM:618590
Rothmund-Thomson Syndrome, Type 2
Delayed eruption of teeth, Congenital hip dislocation, Short thumb, Supernumerary tooth, Cryptorc... OMIM:268400
Koolen-De Vries Syndrome Due To A Point Mutation
Hand muscle atrophy, Bicuspid aortic valve, Calcaneovalgus deformity, Atrial septal defect, Promi... ORPHA:363965
17Q21.31 Microdeletion Syndrome
Hand muscle atrophy, Bicuspid aortic valve, Calcaneovalgus deformity, Atrial septal defect, Promi... ORPHA:363958
Papillary Tumor Of The Pineal Region
Hydrocephalus, Increased CSF protein concentration ORPHA:251915
Beckwith-Wiedemann Syndrome
Omphalocele, Inguinal hernia, Diastasis recti, Rhabdomyosarcoma, Congenital diaphragmatic hernia,... ORPHA:116
Shprintzen-Goldberg Syndrome
Communicating hydrocephalus, Bowing of the long bones, Arachnodactyly, Camptodactyly of finger, E... ORPHA:2462
Renal Agenesis
Ventricular septal defect, Pulmonary hypoplasia ORPHA:411709
Retinitis Pigmentosa With Or Without Skeletal Anomalies
Metaphyseal dysplasia, Short metacarpal, Ventricular septal defect, Metaphyseal chondrodysplasia,... OMIM:250410
Fbln1-Related Developmental Delay-Central Nervous System Anomaly-Syndactyly Syndrome
Cryptorchidism, Syndactyly, Congenital bilateral hip dislocation ORPHA:404451
Limb-Mammary Syndrome
Syndactyly, Toe syndactyly, Submucous cleft soft palate, Cleft hard palate, Cleft lip, 3-4 finger... ORPHA:69085
Noonan Syndrome 1
Ventricular septal defect, Hypospadias, High, narrow palate, Patent ductus arteriosus, Cryptorchi... OMIM:163950
Multiple Sulfatase Deficiency
Broad hallux phalanx, Hydrocephalus, Broad thumb, Smooth philtrum ORPHA:585
Osteogenesis Imperfecta, Type Xviii
Thin ribs, Bowing of the long bones, Umbilical hernia, Femoral bowing OMIM:617952
46,Xy Ovotesticular Difference Of Sex Development
Bifid scrotum, Ambiguous genitalia, True hermaphroditism, Abnormal labia morphology, Fused labia ... ORPHA:325345
Camptodactyly Syndrome, Guadalajara Type 3
Small hand, Abnormal rib morphology, Short foot, Spina bifida occulta, Thickened cortex of long b... ORPHA:488434
Branchial Arch Abnormalities, Choanal Atresia, Athelia, Hearing Loss, And Hypothyroidism Syndrome
Branchial cyst, Thin upper lip vermilion, Natal tooth, Recurrent respiratory infections, Broad ha... OMIM:620186
Criss-Cross Heart
Ventricular septal defect, Tricuspid stenosis, Transposition of the great arteries, Pulmonic sten... ORPHA:1461
Craniotubular Dysplasia, Ikegawa Type
Metaphyseal dysplasia, Thick upper lip vermilion, Ventricular septal defect, Phthisis bulbi, Broa... OMIM:619727
Witteveen-Kolk Syndrome
Proximal placement of thumb, High, narrow palate, Intracranial hemorrhage, Short philtrum, High p... OMIM:613406
Amelocerebrohypohidrotic Syndrome
Abnormality of dental color, Abnormal dental enamel morphology, Hydrocephalus, Yellow-brown disco... ORPHA:1946
Plasminogen Deficiency, Type I
Ventriculomegaly, Duodenal ulcer, Hydrocephalus, Recurrent upper respiratory tract infections, Gi... OMIM:217090
Faciodigitogenital Syndrome, Autosomal Recessive
Syndactyly, Down-sloping shoulders, Metatarsus adductus, Cryptorchidism, Deep philtrum, Dental ma... OMIM:227330
Saethre-Chotzen Syndrome
Hallux valgus, Syndactyly, Absent first metatarsal, Toe syndactyly, Partial duplication of the di... OMIM:101400
Corpus Callosum, Agenesis Of, With Impaired Intellectual Development, Ocular Coloboma, And Micrognathia
Ventricular septal defect, Bilateral cryptorchidism, Patent ductus arteriosus, Recurrent pneumoni... OMIM:300472
Osteopetrosis, Autosomal Recessive 2
Persistence of primary teeth, Carious teeth, Hydrocephalus, Diaphyseal sclerosis, Genu valgum OMIM:259710
Frontofacionasal Dysplasia
Cleft upper lip, Orofacial cleft, Cranium bifidum occultum, Microphthalmia, Bifid uvula OMIM:229400
X-Linked Cerebral-Cerebellar-Coloboma Syndrome
Hydrocephalus, Meckel diverticulum, Ventriculomegaly, Dandy-Walker malformation ORPHA:163961
Waardenburg Syndrome Type 2
Abnormality of the pulmonary artery, Aganglionic megacolon ORPHA:895
Isolated Posterior Meningocele
Tethered cord, Hydrocephalus, Lipomyelomeningocele, Meningocele, Neural tube defect, Hydromyelia,... ORPHA:268810
Coccidioidomycosis
Pericarditis, Abnormal sperm morphology, Pneumonia, Abnormality of the female genitalia, CSF pleo... ORPHA:228123
Trichothiodystrophy 3, Photosensitive
Natal tooth, Carious teeth, Pyloric stenosis, Bilateral cryptorchidism, Eclabion, Microphthalmia,... OMIM:616395
B4Galt1-Cdg
Thin upper lip vermilion, Hydrocephalus, Dandy-Walker malformation, Long philtrum ORPHA:79332
Loeys-Dietz Syndrome 3
Tortuous cerebral arteries, Bicuspid aortic valve, High palate, Atrial septal defect, Abdominal a... OMIM:613795
Goldberg-Shprintzen Syndrome
Ventricular septal defect, Aganglionic megacolon, Tapered finger, Increased femoral anteversion, ... OMIM:609460
Hennekam Syndrome
Delayed eruption of teeth, Finger syndactyly, Recurrent respiratory infections, Abnormal dental m... ORPHA:2136
Nasopalpebral Lipoma-Coloboma Syndrome
Clinodactyly of the 5th finger, Microphthalmia, Bilateral microphthalmos, Recurrent upper respira... ORPHA:2399
Trichohepatoneurodevelopmental Syndrome
Overlapping toe, Ventricular septal defect, Dental crowding, Macroglossia, Patent ductus arterios... OMIM:618268
Mowat-Wilson Syndrome
Bifid scrotum, Bicuspid aortic valve, Dental crowding, Cleft hard palate, Calcaneovalgus deformit... ORPHA:2152
Microcephaly And Chorioretinopathy, Autosomal Recessive, 1
Microphthalmia OMIM:251270
Corpus Callosum Agenesis-Intellectual Disability-Coloboma-Micrognathia Syndrome
High palate, Patent ductus arteriosus, Ventricular septal defect, Cleft palate ORPHA:52055
Trichothiodystrophy 4, Nonphotosensitive
Microphthalmia, Ventricular septal defect, Hypoplasia of teeth OMIM:234050
Vascular Ehlers-Danlos Syndrome
Congenital hip dislocation, High, narrow palate, Abnormality of the gingiva, Gingivitis, Periodon... ORPHA:286
Renal Hypodysplasia/Aplasia 1
Pulmonary hypoplasia OMIM:191830
Gaucher Disease, Type Iiic
Mitral valve calcification, Cardiomegaly, Aortic valve calcification, Hydrocephalus, Calcificatio... OMIM:231005
Diamond-Blackfan Anemia
Radial artery aplasia, Ventricular septal defect, Cleft soft palate, Hypospadias, Absent thumb, S... ORPHA:124
Thoracic Dysplasia-Hydrocephalus Syndrome
Limb undergrowth, Abnormal metaphysis morphology, Communicating hydrocephalus ORPHA:1861
Developmental And Epileptic Encephalopathy 49
Ventriculomegaly, Tented upper lip vermilion, Hydrocephalus, Short philtrum, Everted lower lip ve... OMIM:617281
Neurodevelopmental Disorder With Dysmorphic Facies And Cerebellar Hypoplasia
Dilated fourth ventricle, Thin upper lip vermilion, Ventricular septal defect, Optic disc hypopla... OMIM:619306
Restrictive Dermopathy
Multiple joint contractures, Camptodactyly of finger, Dextrocardia, Large placenta, Transposition... ORPHA:1662
Microphthalmia-Brain Atrophy Syndrome
Lateral ventricle dilatation, Bilateral microphthalmos ORPHA:77299
Multifocal Atrial Tachycardia
Ventricular septal defect, Cryptorchidism, Pulmonic stenosis, Atrial septal defect, Hypertrophic ... ORPHA:3282
Hao-Fountain Syndrome Due To 16P13.2 Microdeletion
Cryptorchidism, Hydrocephalus, Small hand, Short foot, Hip dysplasia, Hypogonadism, Micropenis, D... ORPHA:500055
Intellectual Developmental Disorder, Autosomal Recessive 68
Hydrocephalus OMIM:618302
Costello Syndrome
Hyperextensibility of the finger joints, Ventricular septal defect, Limited elbow movement, Pylor... OMIM:218040
X-Linked Hypophosphatemia
Shortening of the talar neck, Bowing of the long bones, Bowing of the legs, Beaded ribs, Enlargem... ORPHA:89936
Intellectual Developmental Disorder, Autosomal Dominant 47
Wide mouth, Cryptorchidism, Ventricular septal defect, Widely-spaced incisors OMIM:617635
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 12
Microphthalmia, Hydrocephalus, Abnormally large globe OMIM:615249
Aneurysm-Osteoarthritis Syndrome
High palate, Abdominal aortic aneurysm, Bifid uvula, Arachnodactyly, Arterial tortuosity, Patent ... ORPHA:284984
Cole-Carpenter Syndrome 2
Hydrocephalus, Narrow iliac wing, High palate, Dentinogenesis imperfecta OMIM:616294
Osteopetrosis, Autosomal Recessive 1
Femur fracture, Carious teeth, Hydrocephalus, Flared metaphysis, Coxa vara OMIM:259700
Alzahrani-Kuwahara Syndrome
Ventricular septal defect, Pulmonary artery sling, Coronary sinus enlargement, Hypospadias, Narro... OMIM:619268
Tetragametic Chimerism
Bifid scrotum, True hermaphroditism, Single transverse palmar crease, Ovotestis, Cryptorchidism, ... ORPHA:199310
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation
Bifid scrotum, Bicuspid aortic valve, Dental crowding, Cleft hard palate, Calcaneovalgus deformit... ORPHA:261552
Neurodevelopmental Disorder With Hypotonia, Language Delay, And Skeletal Defects With Or Without Seizures
Thin upper lip vermilion, Anal stenosis, Optic nerve hypoplasia, Narrow mouth, 2-3 toe cutaneous ... OMIM:620029
Capillary Malformation-Arteriovenous Malformation
Peripheral arteriovenous fistula, Cerebral arteriovenous malformation, Hydrocephalus, Abnormal he... ORPHA:137667
Bardet-Biedl Syndrome
Finger syndactyly, Hypoplasia of penis, Cryptorchidism, Postaxial hand polydactyly, Hypoplasia of... ORPHA:110
Oculocerebrorenal Syndrome Of Lowe
Dental crowding, Deep philtrum, Gingivitis, Periodontitis, Abnormal dental enamel morphology, Ope... ORPHA:534
Fraser Syndrome 2
Intestinal malrotation, Rectal atresia, Cutaneous syndactyly, Narrow mouth, Ambiguous genitalia, ... OMIM:617666
Microcephaly, Short Stature, And Polymicrogyria With Or Without Seizures
Microphthalmia, Optic nerve hypoplasia, Narrow mouth OMIM:614833
Blepharophimosis-Intellectual Disability Syndrome, Sbbys Type
Atrial septal defect, Recurrent respiratory infections, Ventricular septal defect, Camptodactyly ... ORPHA:3047
Autosomal Recessive Faciodigitogenital Syndrome
Finger syndactyly, Down-sloping shoulders, Open bite, Deep philtrum, Short foot, Wide mouth, High... ORPHA:1974
Dysplastic Cortical Hyperostosis, Kozlowski-Tsuruta Type
Aplasia/Hypoplasia of the lungs ORPHA:2204
Micro Syndrome
Hypoplasia of penis, Cryptorchidism, Hypoplastic labia minora, Clitoral hypoplasia, High palate, ... ORPHA:2510
Seizures, Scoliosis, And Macrocephaly/Microcephaly Syndrome
Ventricular septal defect, Overlapping toe, Intestinal malrotation, Hypoplastic philtrum, Hiatus ... OMIM:616682
Optic Pathway Glioma
Precocious puberty, Hydrocephalus ORPHA:2086
Chromosome 17P13.3, Telomeric, Duplication Syndrome
Contracture of the proximal interphalangeal joint of the 3rd finger, Short metacarpal, Brachydact... OMIM:612576
Saethre-Chotzen Syndrome
Hallux valgus, Finger syndactyly, Proximal radio-ulnar synostosis, Brachydactyly, Open bite, Cryp... ORPHA:794
Multiple Sulfatase Deficiency
Broad hallux, Hydrocephalus, Increased CSF protein concentration, Broad thumb, Ventriculomegaly OMIM:272200
Vitreoretinochoroidopathy
Microphthalmia, Retinal arteriolar constriction, Retinal arteriolar occlusion OMIM:193220
Lacrimoauriculodentodigital Syndrome
Xerostomia, Orofacial cleft, Microdontia, Abnormal salivary gland morphology, Abnormal digit morp... ORPHA:2363
Mosaic Trisomy 20
Ventricular septal defect, Down-sloping shoulders, Cleft lip, Cryptorchidism, Dysplastic tricuspi... ORPHA:1724
Crouzon Syndrome
Hydrocephalus, Narrow palate ORPHA:207
Cornelia De Lange Syndrome
Hypoplasia of penis, Micromelia, Proximal placement of thumb, Downturned corners of mouth, Widely... ORPHA:199
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders
Recurrent respiratory infections, Patent ductus arteriosus, Hydrocephalus, Abnormal heart morphol... ORPHA:505248
Renal-Hepatic-Pancreatic Dysplasia 1
Atrial septal defect, Aortic valve stenosis, Pulmonary hypoplasia, Situs inversus totalis OMIM:208540
Ring Chromosome 7 Syndrome
Hypospadias, Single transverse palmar crease, Situs inversus totalis, Small hand, Cleft palate, G... ORPHA:1449
Short-Rib Thoracic Dysplasia 9 With Or Without Polydactyly
Short metatarsal, Widely spaced teeth, High palate, Clinodactyly of the 5th finger, Microdontia, ... OMIM:266920
Lateral Meningocele Syndrome
Ventricular septal defect, Dental crowding, High, narrow palate, Cryptorchidism, Meningocele, Hig... ORPHA:2789
Hec Syndrome
Communicating hydrocephalus, Cardiomyopathy, Vaginal hydrocele, Endocardial fibroelastosis ORPHA:2119
Holoprosencephaly 1
Alobar holoprosencephaly, Single ventricle, Microphthalmia, Micropenis, Ethmocephaly, Median clef... OMIM:236100
Yunis-Varon Syndrome
Congenital hip dislocation, Single transverse palmar crease, Short metatarsal, Palmoplantar hyper... OMIM:216340
Choanal Atresia
Recurrent respiratory infections, Polydactyly ORPHA:137914
Autosomal Recessive Cutis Laxa Type 1
Peripheral pulmonary artery stenosis, Pyloric stenosis, Dilatation of the ventricular cavity, Pne... ORPHA:90349
Renal Tubular Dysgenesis
Pulmonary hypoplasia OMIM:267430
Mucopolysaccharidosis Type 3
Recurrent sinopulmonary infections, Cardiomegaly, Avascular necrosis of the capital femoral epiph... ORPHA:581
Aspergillosis
Abnormal long bone morphology, Pleural effusion, Abnormal rib morphology, Eosinophilia ORPHA:1163
Hallermann-Streiff Syndrome
Natal tooth, Abnormality of the dentition, High, narrow palate, Supernumerary tooth, Cryptorchidi... ORPHA:2108
Beemer-Ertbruggen Syndrome
Communicating hydrocephalus, Cryptorchidism, Deep philtrum, Ambiguous genitalia ORPHA:1237
Chilton-Okur-Chung Neurodevelopmental Syndrome
Communicating hydrocephalus, Short fourth metatarsal, Septo-optic dysplasia, Single transverse pa... OMIM:619841
Coloboma, Osteopetrosis, Microphthalmia, Macrocephaly, Albinism, And Deafness
Clinodactyly of the 5th finger, Microphthalmia OMIM:617306
Trichothiodystrophy
Ventricular septal defect, Carious teeth, High, narrow palate, Recurrent bronchopulmonary infecti... ORPHA:33364
Hb Bart'S Hydrops Fetalis
Pericarditis, Hydrocephalus ORPHA:163596
Monosomy 13Q14
Aplasia/Hypoplasia of the thumb, Finger syndactyly, Holoprosencephaly, Clinodactyly of the 5th fi... ORPHA:1587
Zellweger Syndrome
Ventricular septal defect, Hypospadias, Malabsorption, Pyloric stenosis, Cryptorchidism, Abnormal... ORPHA:912
Joubert Syndrome With Hepatic Defect
Occipital encephalocele, Postaxial hand polydactyly, Hydrocephalus, Orofacial cleft ORPHA:1454
Encephalomyopathy, Mitochondrial, Due To Voltage-Dependent Anion Channel Deficiency
Syndactyly, Umbilical hernia, High palate OMIM:614520
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome
Arachnodactyly, Absent thumb, Rib fusion, Slender long bone, Cervical ribs ORPHA:500150
Acrocephalopolydactylous Dysplasia
Omphalocele, Pulmonary hypoplasia, Extrapulmonary sequestrum OMIM:200995
Chiari Malformation Type Ii
Cervical myelopathy, Myelomeningocele, Hydrocephalus, Spina bifida OMIM:207950
Congenital Gerbode Defect
Ventricular septal defect, Right atrial enlargement, Perimembranous ventricular septal defect, Ba... ORPHA:99095
Schinzel-Giedion Midface Retraction Syndrome
Small scrotum, Increased density of long bones, Single transverse palmar crease, Hypospadias, Wid... OMIM:269150
Macrocephaly-Intellectual Disability-Left Ventricular Non Compaction Syndrome
Dental crowding, Bilateral cryptorchidism, High, narrow palate, Short philtrum, Widely spaced tee... ORPHA:466791
Mutilating Hereditary Sensory Neuropathy With Spastic Paraplegia
Abnormal spinal cord morphology ORPHA:139578
Idiopathic Uveal Effusion Syndrome
Microphthalmia, Increased CSF protein concentration ORPHA:209956
Pontocerebellar Hypoplasia, Type 17
Secundum atrial septal defect, Ventricular septal defect, Limb hypertonia OMIM:619909
Crouzon Syndrome With Acanthosis Nigricans
Hydrocephalus OMIM:612247
Krabbe Disease
Hydrocephalus, Increased CSF protein concentration OMIM:245200
Schinzel-Giedion Syndrome
Inguinal hernia, Recurrent pneumonia, Abnormal heart morphology, Macroglossia, Neural tube defect... ORPHA:798
Neuroocular Syndrome
Hypoplasia of the fovea, Hyperextensibility of the finger joints, Scapular winging, Tapered finge... OMIM:619539
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome
Hallux valgus, Mitral valve calcification, Aortic valve calcification, Hydrocephalus, Esophageal ... ORPHA:2072
Arboleda-Tham Syndrome
Secundum atrial septal defect, Bilateral cryptorchidism, Downturned corners of mouth, Short philt... OMIM:616268
Multiple Acyl-Coa Dehydrogenase Deficiency
Pulmonary hypoplasia OMIM:231680
Osteopetrosis, Autosomal Recessive 7
Multiple rib fractures, Death in infancy, Femur fracture, Hydrocephalus, Death in childhood OMIM:612301
Cortical Dysgenesis With Pontocerebellar Hypoplasia Due To Tubb3 Mutation
Optic nerve hypoplasia, Metatarsus adductus, Small hand, Genu valgum, Short foot, Lateral ventric... ORPHA:300570
Muscle-Eye-Brain Disease
Hydrocephalus, Meningocele, Holoprosencephaly ORPHA:588
Alexander Disease Type I
Hydrocephalus ORPHA:363717
Linear Skin Defects With Multiple Congenital Anomalies 3
Delayed eruption of primary teeth, Dilated cardiomyopathy, Lateral ventricle dilatation, Histiocy... OMIM:300952
Choreoathetosis And Congenital Hypothyroidism With Or Without Pulmonary Dysfunction
Recurrent respiratory infections, Ventricular septal defect, Atelectasis, Cystic pattern on pulmo... OMIM:610978
Tenorio Syndrome
Hydrocephalus, Recurrent pneumonia, Wide mouth, Macroglossia, Recurrent aphthous stomatitis, Vent... OMIM:616260
Facial Dysmorphism, Lens Dislocation, Anterior Segment Abnormalities, And Spontaneous Filtering Blebs
Broad hallux, Arachnodactyly, Cubitus valgus, Dental malocclusion, High palate, Short finger, Mic... OMIM:601552
Heterotaxy, Visceral, 10, Autosomal, With Male Infertility
Situs inversus totalis, Dextrocardia OMIM:619607
46,Xy Sex Reversal 10
Bifid scrotum, Small scrotum, Hypospadias, Ovotestis, Testicular dysgenesis, Perineal hypospadias... OMIM:616425
Familial Osteodysplasia, Anderson Type
Aplastic clavicle, Missing ribs, Elbow dislocation, Abnormal rib morphology, Bifid femur, Aplasia... ORPHA:2769
Alopecia-Contractures-Dwarfism-Intellectual Disability Syndrome
Finger syndactyly, Abnormal dental enamel morphology, Abnormality of the elbow, Hip dislocation, ... ORPHA:1005
Myopathy With Extrapyramidal Signs
Increased CSF protein concentration, Tented upper lip vermilion, Ventricular septal defect OMIM:615673
Spinocerebellar Ataxia 42, Early-Onset, Severe, With Neurodevelopmental Deficits
Syndactyly, Clinodactyly OMIM:618087
Floating-Harbor Syndrome
Humeral pseudarthrosis, Oligodontia, Short philtrum, Atrial septal defect, Microdontia, Mesocardi... ORPHA:2044
Mgat2-Cdg
Ventricular septal defect, Dental crowding, Patent ductus arteriosus, Abnormal heart morphology, ... ORPHA:79329
Congenital Myopathy 22A, Classic
Hip contracture, Scapular winging, Dental crowding, Normal pressure hydrocephalus, High palate, C... OMIM:620351
Congenital Disorder Of Glycosylation, Type It
Ventricular septal defect, Cardiomegaly, Dilated cardiomyopathy, Pierre-Robin sequence, Cleft pal... OMIM:614921
Craniofrontonasal Dysplasia-Poland Anomaly Syndrome
Syndactyly, Short lingual frenulum, Bifid uterus, Abnormal reproductive system morphology, Unilat... ORPHA:1521
Holoprosencephaly 2
Median cleft lip and palate, Alobar holoprosencephaly, Submucous cleft hard palate, Bilateral cle... OMIM:157170
Genitopatellar Syndrome
Congenital hip dislocation, Small scrotum, Hypoplastic ischia, Anteriorly placed anus, Atrial sep... OMIM:606170
Intellectual Developmental Disorder, Autosomal Dominant 53
Short femur, Ventricular septal defect, Intestinal malrotation, Cryptorchidism, Genu valgum, Wide... OMIM:617798
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome
Thin upper lip vermilion, Ventricular septal defect, Hypospadias, Patent ductus arteriosus, Small... ORPHA:444077
Autosomal Dominant Cutis Laxa
Dilatation of the ventricular cavity, Hip dislocation, Bronchiectasis, Coarctation of aorta, Aort... ORPHA:90348
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 9
Buphthalmos, Microphthalmia, Hydrocephalus, Ventriculomegaly OMIM:616538
Klippel-Feil Syndrome 1, Autosomal Dominant
Sprengel anomaly, Abnormal rib morphology OMIM:118100
Trichorhinophalangeal Syndrome, Type Ii
Chronic gastritis, Bicuspid aortic valve, Single transverse palmar crease, Cerebral arteriovenous... OMIM:150230
Anemia, Congenital Dyserythropoietic, Type Ib
Syndactyly OMIM:615631
Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies
Cleft soft palate, Optic nerve hypoplasia, Intestinal malrotation, Hydrocephalus, Genu valgum, Do... OMIM:619321
Anterior Segment Dysgenesis 5
Hypoplasia of the fovea, Hypoplasia of the iris, Rieger anomaly, Microphthalmia OMIM:604229
Melanosis, Neurocutaneous
Choroid plexus papilloma, Hydrocephalus, Dandy-Walker malformation OMIM:249400
Microphthalmia, Isolated, With Corectopia
Microphthalmia OMIM:156900
Hypoplastic Left Heart Syndrome 2
Aortic valve atresia, Hypoplastic left heart, Ventricular septal defect, Mitral atresia OMIM:614435
Frontonasal Dysplasia 2
Encephalocele, Conical tooth, Bilateral cryptorchidism, Widely spaced teeth, Microphthalmia, Broa... OMIM:613451
Familial Exudative Vitreoretinopathy
Microphthalmia, Macular edema, Lymphedema ORPHA:891
Wiedemann-Rautenstrauch Syndrome
Secundum atrial septal defect, Downturned corners of mouth, Dandy-Walker malformation, Genu varum... OMIM:264090
Cerebral Visual Impairment
Intracranial hemorrhage, Hydrocephalus, Ischemic stroke, Optic nerve hypoplasia ORPHA:447788
Neurofibromatosis Type 1 Due To Nf1 Mutation Or Intragenic Deletion
Ventricular septal defect, Abnormal tibia morphology, Hydrocephalus, Genu valgum, Abnormal heart ... ORPHA:363700
Lmna-Related Cardiocutaneous Progeria Syndrome
Ventricular hypertrophy, Mitral valve calcification, Emphysema, Intracranial hemorrhage, Aortic r... ORPHA:363618
Glycogen Storage Disease Of Heart, Lethal Congenital
Cardiomegaly, Pericardial effusion, Hydrocephalus, Increased myocardial glycogen content, Biventr... OMIM:261740
Joubert Syndrome 1
Enlarged fossa interpeduncularis, Protruding tongue, Postaxial hand polydactyly, Occipital myelom... OMIM:213300
Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency
2-5 finger syndactyly, Ventriculomegaly, Hypospadias, Optic nerve hypoplasia, Camptodactyly of fi... ORPHA:468631
C Syndrome
Omphalocele, Aplasia/Hypoplasia of the abdominal wall musculature, Congenital diaphragmatic hernia ORPHA:1308
Trichohepatoenteric Syndrome 1
Villous atrophy, Ventricular septal defect, Hypospadias, Avascular necrosis of the capital femora... OMIM:222470
Lethal Hemolytic Anemia-Genital Anomalies Syndrome
Aplasia/Hypoplasia of the lungs ORPHA:1046
Hereditary Acrokeratotic Poikiloderma
Finger syndactyly, Camptodactyly of finger, Premature loss of primary teeth, Abnormality of the d... ORPHA:2907
Complete Atrioventricular Septal Defect
Cardiomegaly, Complete atrioventricular canal defect, Recurrent pneumonia, Primum atrial septal d... ORPHA:1329
Bosma Arhinia Microphthalmia Syndrome
Hypogonadotropic hypogonadism, Hypospadias, Cleft lip, Cryptorchidism, Dental malocclusion, Cleft... OMIM:603457
Arthrogryposis, Renal Dysfunction, And Cholestasis 2
Arthrogryposis multiplex congenita, Ventricular septal defect, Right ventricular hypertrophy OMIM:613404
Craniofacial Anomalies And Anterior Segment Dysgenesis Syndrome
Hypoplasia of the iris, Hydrocephalus, Nasofrontal encephalocele, Ventriculomegaly OMIM:614195
Alagille Syndrome 1
Hypoplasia of the ulna, Ventricular septal defect, Coarctation of aorta, Stroke, Renal artery ste... OMIM:118450
Central Neurocytoma
Abnormal lateral ventricle morphology, Hydrocephalus ORPHA:73256
Oeis Complex
Congenital hip dislocation, Intestinal malrotation, Bifid uterus, Epispadias, Myelomeningocele, H... OMIM:258040
Atelosteogenesis Type I
Pulmonary hypoplasia ORPHA:1190
Ectodermal Dysplasia-Blindness Syndrome
Microphthalmia, Recurrent respiratory infections, Abnormality of the dentition ORPHA:1806
Mucopolysaccharidosis Type 2
Communicating hydrocephalus, Abnormal heart valve morphology, Abnormal pulmonary valve morphology... ORPHA:580
Palmoplantar Hyperkeratosis With Squamous Cell Carcinoma Of Skin And 46,Xx Sex Reversal
Premature loss of permanent teeth, Hypospadias, External genital hypoplasia, Ovotestis, Palmoplan... OMIM:610644
Syndromic Diarrhea
Villous atrophy, Ventricular septal defect, Bicuspid aortic valve, Gastritis, Patent ductus arter... ORPHA:84064
Mosaic Trisomy 8
Camptodactyly of finger, Patellar aplasia, Abnormal rib morphology, Narrow pelvis bone, Deep palm... ORPHA:96061
Pettigrew Syndrome
Ventriculomegaly, Aqueductal stenosis, Hydrocephalus, Wide mouth, Thick vermilion border, Dandy-W... OMIM:304340
Developmental Delay, Impaired Speech, And Behavioral Abnormalities
Bifid scrotum, Bicuspid aortic valve, Single transverse palmar crease, High, narrow palate, Short... OMIM:619475
Eec Syndrome
Aplasia/Hypoplasia of the thumb, Finger syndactyly, Toe syndactyly, Hypospadias, Abnormal dental ... ORPHA:1896
Genitourinary And/Or Brain Malformation Syndrome
Syndactyly, Streak ovary, Jejunal atresia, Hypospadias, Ileal atresia, Cryptorchidism, Uterus did... OMIM:618820
Schwartz-Jampel Syndrome
Micromelia, Polyhydramnios, Coxa vara, Pectus carinatum, Wrist flexion contracture, Death in infa... ORPHA:800
Ciliary Dyskinesia, Primary, 1
Communicating hydrocephalus, Pneumonia, Situs inversus totalis, Atelectasis, Bronchiectasis, Recu... OMIM:244400
Intellectual Developmental Disorder With Hypotonia And Behavioral Abnormalities
Rectoperineal fistula, Ventricular septal defect, Cryptorchidism, Coarctation of aorta, Anteriorl... OMIM:618748
Sclerosteosis 1
Syndactyly, 2-3 finger syndactyly, Dental malocclusion, Deviation of finger, Abnormal pelvic gird... OMIM:269500
Thauvin-Robinet-Faivre Syndrome
Ventricular septal defect, Bowing of the legs, Mitral valve prolapse, Macroglossia, Large hands, ... OMIM:617107
Legius Syndrome
Non-small cell lung carcinoma, Mitral valve prolapse, Diaphyseal dysplasia, Ovarian neoplasm, Pol... ORPHA:137605
Transketolase Deficiency
Ventricular septal defect, Abnormal coronary artery course, Patent ductus arteriosus, Abnormal he... ORPHA:488618
Rodrigues Blindness
Microphthalmia, Tooth malposition OMIM:268320
Gastrointestinal Defects And Immunodeficiency Syndrome 1
Recurrent respiratory infections, Intestinal obstruction, Ventricular septal defect, Intestinal m... OMIM:243150
Laubry-Pezzi Syndrome
Aortic valve prolapse, Bicuspid aortic valve, Ventricular septal defect, Abnormal aortic valve cu... ORPHA:99094
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Exercise-induced rhabdomyolysis, Ventricular septal defect, Pneumonia, Pericardial effusion, Dila... ORPHA:26793
Intellectual Developmental Disorder, Autosomal Dominant 70
Hydrocephalus, Optic nerve hypoplasia OMIM:620157
Arthrogryposis, Renal Dysfunction, And Cholestasis 1
Ventricular septal defect, Atrial septal defect, Arthrogryposis multiplex congenita, Patent foram... OMIM:208085
Restrictive Dermopathy 1
Limb joint contracture, Flexion contracture, Hydropic placenta, Pulmonary hypoplasia, Short umbil... OMIM:275210
Monosomy 13Q34
Postaxial foot polydactyly, Common atrium, Postaxial hand polydactyly, Pulmonic stenosis ORPHA:96168
Monosomy 22
Finger syndactyly, Single transverse palmar crease, Clubbing, Micropenis, Thin vermilion border, ... ORPHA:96123
Whipple Disease
Pericarditis, Malabsorption, Myocarditis, Hydrocephalus, Pleuritis ORPHA:3452
Icf Syndrome
Communicating hydrocephalus, Recurrent respiratory infections, Malabsorption, Protruding tongue, ... ORPHA:2268
Facial Dysmorphism-Anorexia-Cachexia-Eye And Skin Anomalies Syndrome
Abnormal mitral valve morphology, Finger syndactyly, Short hard palate, Genu varum ORPHA:1969
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation
Ventricular septal defect, Hypospadias, Tapered finger, Cryptorchidism, Short toe, Patent ductus ... ORPHA:464311
Neonatal Lupus Erythematosus
Hydrocephalus, Dilated cardiomyopathy, Abnormal heart morphology ORPHA:398124
Osteogenesis Imperfecta, Type Viii
Barrel-shaped chest, Short metacarpal, Radial bowing, Femoral retroversion, Tibial bowing, Femora... OMIM:610915
Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans
Rhizomelia, Hydrocephalus, Tibial bowing, Femoral bowing, Uterine leiomyoma, Mesomelia, Palmoplan... OMIM:616482
Williams-Beuren Syndrome
Bicuspid aortic valve, Rectal prolapse, Atrial septal defect, Clinodactyly of the 5th finger, Mic... OMIM:194050
Oculopalatocerebral Syndrome
Microphthalmia, Cleft palate OMIM:257910
Peroxisome Biogenesis Disorder 5A (Zellweger)
Ventricular septal defect, Single transverse palmar crease, Hypospadias, Metatarsus adductus, Cry... OMIM:614866
Coffin-Siris Syndrome 12
Hypospadias, Celiac disease, Short thumb, Slender finger, Velopharyngeal insufficiency, Submucous... OMIM:619325
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome
Contracture of the distal interphalangeal joint of the fingers, Inguinal hernia, Perimembranous v... ORPHA:83617
Combined Pituitary Hormone Deficiencies, Genetic Forms
Septo-optic dysplasia, Hypogonadotropic hypogonadism, Optic nerve hypoplasia, Polydactyly, Holopr... ORPHA:95494
Primary Aldosteronism, Seizures, And Neurologic Abnormalities
Left ventricular hypertrophy, Ventricular septal defect, Patent foramen ovale, Biventricular hype... OMIM:615474
Fanconi Anemia, Complementation Group N
Short thumb, Ventricular septal defect OMIM:610832
Pallister-Killian Syndrome
Congenital hip dislocation, Tented upper lip vermilion, Single transverse palmar crease, Small sc... OMIM:601803
Coach Syndrome 2
Hydrocephalus OMIM:619111
Paternal Uniparental Disomy Of Chromosome 6
Ventricular septal defect, Cardiomegaly, Precocious puberty, Cryptorchidism, Patent ductus arteri... ORPHA:96191
Lymphangioleiomyomatosis
Recurrent respiratory infections, Atelectasis, Hydrocephalus, Pneumothorax, Chylopericardium, Chy... ORPHA:538
Neurodevelopmental Disorder With Microcephaly, Cerebral Atrophy, And Visual Impairment
Bicuspid aortic valve, Ventricular septal defect, Partial atrioventricular canal defect, Cardiome... OMIM:620066
Autosomal Dominant Keratitis
Hypoplasia of the fovea, Bilateral microphthalmos, Hypoplastic iris stroma, Macular hypoplasia, A... ORPHA:2334
Developmental Delay With Short Stature, Dysmorphic Facial Features, And Sparse Hair 1
Natal tooth, Ventricular septal defect, Dandy-Walker malformation OMIM:616901
Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities
Single transverse palmar crease, Downturned corners of mouth, High palate, Atrial septal defect, ... OMIM:619522
Bloom Syndrome
Syndactyly, Cryptorchidism, Recurrent upper respiratory tract infections, Bronchiectasis, Agenesi... OMIM:210900
Deafness, X-Linked 7
Unilateral microphthalmos OMIM:301018
Brain-Lung-Thyroid Syndrome
Recurrent respiratory infections, Ventricular septal defect, Hypospadias, Recurrent pneumonia, Ab... ORPHA:209905
Aniridia-Renal Agenesis-Psychomotor Retardation Syndrome
Aniridia, Communicating hydrocephalus, Downturned corners of mouth ORPHA:1064
Microphthalmia, Isolated, With Coloboma 9
Microphthalmia, Long philtrum OMIM:615145
Dpagt1-Cdg
Flexion contracture, Lipodystrophy, Pulmonary hypoplasia, Camptodactyly ORPHA:86309
Wiedemann-Rautenstrauch Syndrome
Optic disc hypoplasia, Congenital malformation of the left heart, Wide penis, Downturned corners ... ORPHA:3455
Ulbright-Hodes Syndrome
Short humerus, Short metacarpal, Humeroradial synostosis, Hypoplasia of the radius, Abnormal rib ... ORPHA:3404
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form
Cardiomegaly, High, narrow palate, Hydrocephalus, Cardiomyopathy, Abnormal myocardium morphology,... ORPHA:228308
Cole-Carpenter Syndrome 1
Microdontia, Hydrocephalus, Communicating hydrocephalus, Dentinogenesis imperfecta OMIM:112240
Crouzon Syndrome
High palate, Hydrocephalus, Dental crowding, Dysgerminoma OMIM:123500
46,Xx Sex Reversal 4
Fused labia majora, Penoscrotal hypospadias, Ovotestis, Gonadal dysgenesis, Retractile testis, Am... OMIM:617480
Knobloch Syndrome
Occipital encephalocele, Dextrocardia, Pyloric stenosis, Patent ductus arteriosus, Hydrocephalus ORPHA:1571
Intellectual Developmental Disorder, Autosomal Dominant 71, With Behavioral Abnormalities
Thin upper lip vermilion, Small scrotum, Sandal gap, Optic nerve hypoplasia, Ventricular septal d... OMIM:620330
Coffin-Lowry Syndrome
Hyperextensibility of the finger joints, Short metacarpal, Bifid sternum, Single transverse palma... OMIM:303600
Hughes-Stovin Syndrome
Pulmonary artery aneurysm, Vasculitis, Arterial stenosis ORPHA:228116
Short Stature With Microcephaly And Distinctive Facies
Syndactyly, Short digit, Proximal placement of thumb, Talipes equinovarus, Short distal phalanx o... OMIM:615789
Retinitis Pigmentosa 74
Polydactyly OMIM:616562
Nijmegen Breakage Syndrome
Recurrent sinopulmonary infections, Anal stenosis, Recurrent respiratory infections, Deep philtru... ORPHA:647
Osteopetrosis, Autosomal Recessive 5
Hydrocephalus, Flared metaphysis, Gingival overgrowth, Long philtrum, Hip subluxation, Ventriculo... OMIM:259720
Griscelli Syndrome
Encephalocele, Pyloric stenosis, Hydrocephalus ORPHA:381
Agenesis Of Corpus Callosum, Cardiac, Ocular, And Genital Syndrome
Atrioventricular canal defect, Dextrocardia OMIM:618929
Aprosencephaly Syndrome
Aprosencephaly, Anencephaly, Hand oligodactyly OMIM:207770
Posterior Column Ataxia-Retinitis Pigmentosa Syndrome
Abnormal spinal cord morphology, Flexion contracture of finger, Camptodactyly ORPHA:88628
Atypical Werner Syndrome
Premature arteriosclerosis, Prominent superficial veins, Rocker bottom foot, Abnormal cerebral va... ORPHA:79474
Choroidal Atrophy-Alopecia Syndrome
Finger syndactyly ORPHA:1433
Cockayne Syndrome B
Delayed eruption of primary teeth, Carious teeth, Cryptorchidism, Dental malocclusion, Ivory epip... OMIM:133540
Fibrous Dysplasia Of Bone
Abnormal morphology of the radius, Bowing of the long bones, Abnormal pelvis bone morphology, Abn... ORPHA:249
Microcephaly 20, Primary, Autosomal Recessive
Hypoplasia of the uterus, Microphthalmia, Vaginal atresia, Optic nerve hypoplasia OMIM:617914
Neurofibromatosis, Type I
Spina bifida, Aqueductal stenosis, Hydrocephalus, Tibial pseudarthrosis, Genu valgum, Renal arter... OMIM:162200
Basal Cell Nevus Syndrome 2
Palmar pits, Hydrocephalus OMIM:620343
Early Infantile Epileptic Encephalopathy
Ventricular septal defect, Precocious puberty, Cleft palate, Short finger, Broad finger, Umbilica... ORPHA:1934
Congenital Disorder Of Glycosylation, Type Iq
Microphthalmia OMIM:612379
Combined Oxidative Phosphorylation Deficiency 15
Ventricular septal defect, Single transverse palmar crease, Small hand, Ventricular septal hypert... OMIM:614947
Treacher Collins Syndrome 1
Cleft soft palate, Cryptorchidism, Bilateral microphthalmos, Cleft palate, Abnormal heart morphol... OMIM:154500
Long Qt Syndrome 8
Syndactyly OMIM:618447
Tukel Syndrome
Carpal synostosis, Syndactyly, Carpal bone aplasia, Postaxial oligodactyly OMIM:609428
Noonan Syndrome 3
Ventricular septal defect, Cryptorchidism, Patent ductus arteriosus, Mitral valve prolapse, High ... OMIM:609942
Anterior Segment Dysgenesis 2
Aniridia, Microphthalmia, Congenital aphakia, Anterior segment of eye aplasia OMIM:610256
Hypoplasminogenemia
Cervicitis, Duodenal ulcer, Hydrocephalus, Gingival overgrowth, Gingivitis, Periodontitis, Abnorm... ORPHA:722
Spinal Arteriovenous Metameric Syndrome
Abnormal spinal cord morphology, Spinal arteriovenous malformation ORPHA:53721
Neurodevelopmental Disorder With Language Delay And Seizures
Cryptorchidism, Ventricular septal defect OMIM:619908
Cryptophthalmos, Unilateral Or Bilateral, Isolated
Microphthalmia OMIM:123570
Methylmalonic Acidemia With Homocystinuria, Type Cblc
Hydrocephalus, Dilated cardiomyopathy, Subdural hemorrhage, Abnormal heart morphology, Stroke, St... ORPHA:79282
Cockayne Syndrome A
Hip contracture, Delayed eruption of primary teeth, Carious teeth, Cryptorchidism, Dental maloccl... OMIM:216400
Ciliary Dyskinesia, Primary, 43
Noncommunicating hydrocephalus, Recurrent lower respiratory tract infections, Recurrent upper res... OMIM:618699
Polycystic Kidney Disease 2 With Or Without Polycystic Liver Disease
Situs inversus totalis, Dextrocardia OMIM:613095
Neurodevelopmental Disorder With Seizures, Microcephaly, And Brain Abnormalities
Ventricular septal defect, Cryptorchidism, Patent ductus arteriosus, Coronary artery fistula, Atr... OMIM:620024
Sturge-Weber Syndrome
Hydrocephalus, Stroke, Gingival overgrowth, Abnormal cerebral vascular morphology ORPHA:3205
Osteoporosis-Pseudoglioma Syndrome
Ventricular septal defect, Metaphyseal widening, Phthisis bulbi, Tibial bowing, Microphthalmia OMIM:259770
Mitochondrial Complex Iii Deficiency, Nuclear Type 10
Pericardial effusion, Hypertrophic cardiomyopathy, Persistent left superior vena cava, Ventricula... OMIM:618775
Familial Bicuspid Aortic Valve
Aortic arch aneurysm, Bicuspid aortic valve, Aortic valve calcification, Coarctation of aorta, Ab... ORPHA:402075
Neuropathy, Hereditary Sensory And Autonomic, Type Vi
Ventricular septal defect, High palate, Talipes equinovarus, Hand clenching, Open mouth OMIM:614653
Cornea Plana 2, Autosomal Recessive
Microphthalmia OMIM:217300
Trichothiodystrophy 1, Photosensitive
Intestinal obstruction, Malabsorption, Hypogonadism, Microphthalmia, Triangular mouth OMIM:601675
Gaucher Disease
Mitral valve calcification, Abnormal heart valve morphology, Abnormal pericardium morphology, Aor... ORPHA:355
Anterior Segment Dysgenesis 7
Buphthalmos, Microphthalmia OMIM:269400
Kindler Epidermolysis Bullosa
Finger syndactyly, Camptodactyly of finger, Abnormal dental enamel morphology, Premature loss of ... ORPHA:2908
Medulloblastoma
Neoplasm of the lung, Cerebellar hemorrhage, Adenomatous colonic polyposis, Hydrocephalus ORPHA:616
Oxoglutaric Aciduria
Abnormal salivary gland morphology, Hydrocephalus ORPHA:31
Nephronophthisis 18
Hydrocephalus OMIM:615862
Penile Agenesis
Atrial septal defect, Bilateral lung agenesis, Ventricular septal defect, Pulmonary hypoplasia ORPHA:49
Optic Disc Anomalies With Retinal And/Or Macular Dystrophy
Buphthalmos, Microphthalmia OMIM:212550
Duodenal Atresia
Abnormality of the pulmonary artery, Duodenal atresia ORPHA:1203
Osteootohepatoenteric Syndrome
Ileoileal intussusception, Villous atrophy, Avascular necrosis of the capital femoral epiphysis, ... OMIM:619377
Metaphyseal Chondromatosis With D-2-Hydroxyglutaric Aciduria
Metaphyseal chondromatosis of tibia, Metaphyseal dysplasia, Ventriculomegaly, Irregular iliac cre... ORPHA:99646
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease
Pulmonary hypoplasia OMIM:263200
Hydrocephalus, Congenital, 4
Communicating hydrocephalus, Ventriculomegaly OMIM:618667
Adult Syndrome
Finger syndactyly, Toe syndactyly, Abnormal dental morphology, Abnormality of the dentition, Spli... ORPHA:978
Proteus Syndrome
Abnormal finger morphology, Abnormal lung lobation, Clinodactyly of the 5th finger, Abnormality o... ORPHA:744
Functioning Gonadotropic Adenoma
Macroorchidism, postpubertal, Isosexual precocious puberty, Enlarged polycystic ovaries, Hydrocep... ORPHA:91348
Hemangioblastoma
Hydrocephalus ORPHA:252054
Papilloma Of Choroid Plexus
Choroid plexus papilloma, Hydrocephalus OMIM:260500
Blepharophimosis, Ptosis, And Epicanthus Inversus
Hypoplasia of the uterus, Microphthalmia, High palate OMIM:110100
Johanson-Blizzard Syndrome
Abnormal cardiac septum morphology, Dextrocardia ORPHA:2315
Telangiectasia, Hereditary Hemorrhagic, Type 4
Transient ischemic attack, Cerebral arteriovenous malformation, Pulmonary arteriovenous malformat... OMIM:610655
Kyphoscoliotic Ehlers-Danlos Syndrome
Skeletal muscle atrophy, Inguinal hernia, Bicuspid aortic valve, Dextrocardia, Atypical scarring ... ORPHA:536545
Hydrocephalus, Congenital, 5, Susceptibility To
Aqueductal stenosis, Noncommunicating hydrocephalus OMIM:620241
Arachnoid Cyst
Encephalocele, Enlarged fossa interpeduncularis, Subarachnoid hemorrhage, Hydrocephalus, Holopros... ORPHA:2356
Microcornea-Posterior Megalolenticonus-Persistent Fetal Vasculature-Coloboma Syndrome
Microphthalmia ORPHA:231736
Cockayne Syndrome Type 3
Carious teeth, Subdural hemorrhage, Cardiomyopathy, Aortic root aneurysm, Stroke, Microphthalmia,... ORPHA:90324
Xeroderma Pigmentosum, Complementation Group B
Microphthalmia, Hypogonadism, Ventriculomegaly OMIM:610651
Coloboma, Ocular, Autosomal Dominant
Microphthalmia, Optic nerve aplasia, Ventriculomegaly OMIM:120200
Gaze Palsy, Familial Horizontal, With Progressive Scoliosis 2, With Impaired Intellectual Development
Hydrocephalus OMIM:617542
Macrocephaly, Dysmorphic Facies, And Psychomotor Retardation
Communicating hydrocephalus, Arachnodactyly, Large hands, High palate, Ventriculomegaly OMIM:617011
Hydrocephalus, Normal-Pressure, 1
Normal pressure hydrocephalus OMIM:236690
Xeroderma Pigmentosum-Cockayne Syndrome Complex
Arteriosclerosis, Hydrocephalus ORPHA:220295
Scalp-Ear-Nipple Syndrome
Finger syndactyly, Cardiac myxoma, 3-4 finger cutaneous syndactyly, 2-3 toe syndactyly, Agenesis ... OMIM:181270
Homocystinuria Due To Methylene Tetrahydrofolate Reductase Deficiency
Hydrocephalus, Stroke, Ventriculomegaly ORPHA:395
Noonan Syndrome-Like Disorder With Loose Anagen Hair 1
Ventricular septal defect, Cryptorchidism, Deep palmar crease, High palate, Pulmonic stenosis, At... OMIM:607721
Autosomal Dominant Kenny-Caffey Syndrome
Decreased testicular size, Stenosis of the medullary cavity of the long bones, Persistence of pri... ORPHA:93325
Lowe Oculocerebrorenal Syndrome
Camptodactyly of finger, Wrist swelling, Cryptorchidism, Hip dislocation, Genu valgum, Finger swe... OMIM:309000
Osteopetrosis, Autosomal Recessive 8
Unilateral microphthalmos OMIM:615085
Diamond-Blackfan Anemia 5
Ventricular septal defect, Hypospadias OMIM:612528
Telangiectasia, Hereditary Hemorrhagic, Type 1
Cerebral arteriovenous malformation, Tongue telangiectasia, Venous varicosities of celiac and mes... OMIM:187300
Blomstrand Lethal Chondrodysplasia
Pulmonary hypoplasia ORPHA:50945
Methylmalonic Aciduria And Homocystinuria, Cblf Type
Atrial septal defect, Dextrocardia OMIM:277380
Primary Hyperaldosteronism-Seizures-Neurological Abnormalities Syndrome
Ventricular hypertrophy, Ventricular septal defect, Intracranial hemorrhage ORPHA:369929
Exudative Vitreoretinopathy 2, X-Linked
Microphthalmia OMIM:305390
Cockayne Syndrome
Abnormal dental morphology, Delayed eruption of primary teeth, Carious teeth, Cryptorchidism, Den... ORPHA:191
Alpha-Mannosidosis, Infantile Form
Communicating hydrocephalus, Pneumonia, Genu valgum, Cortical thickening of long bone diaphyses, ... ORPHA:309282
Ear-Patella-Short Stature Syndrome
Camptodactyly of finger, Aplastic clavicle, Elbow dislocation, Patellar aplasia, Abnormal rib mor... ORPHA:2554
Pierson Syndrome
Rieger anomaly, Hypoplasia of the ciliary body, Edema, Hypoplasia of the iris, Macular hypoplasia... OMIM:609049
Arachnoiditis
Hydrocephalus ORPHA:137817
Rabin-Pappas Syndrome
Hydrocephalus, Optic nerve hypoplasia OMIM:620155
Telangiectasia, Hereditary Hemorrhagic, Type 2
Hepatic arteriovenous malformation, Transient ischemic attack, Cerebral arteriovenous malformatio... OMIM:600376
Oculoauricular Syndrome
Phthisis bulbi, Macular hypoplasia, Microphakia, Microphthalmia, Spina bifida occulta OMIM:612109
Arima Syndrome
Dilated fourth ventricle, Postaxial hand polydactyly, Esophageal varix, Postaxial foot polydactyl... OMIM:243910
Glutaryl-Coa Dehydrogenase Deficiency
Communicating hydrocephalus, Ventriculomegaly, Subdural hemorrhage, Subependymal nodules ORPHA:25
Lissencephaly 9 With Complex Brainstem Malformation
Ventricular septal defect OMIM:618325
Alexander Disease
Aqueductal stenosis, Hydrocephalus, High palate, Precocious puberty ORPHA:58
Neurofibromatosis Type 1
Precocious puberty, Cryptorchidism, Hydrocephalus, Arterial stenosis, Genu valgum, Slender long b... ORPHA:636
Kenny-Caffey Syndrome, Type 2
Microphthalmia, Thickened cortex of long bones, Abnormality of the medullary cavity of the long b... OMIM:127000
Exstrophy-Epispadias Complex
Bifid scrotum, Anal stenosis, Spina bifida, Bifid uterus, Epispadias, Hydrocephalus, Cryptorchidi... ORPHA:322
Sotos Syndrome
No permanent dentition, Atrial septal defect, Hypospadias, Cryptorchidism, Patent ductus arterios... ORPHA:821
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 2
Pulmonary hypoplasia OMIM:619351
46,Xx Sex Reversal 2
Bifid scrotum, Hypoplasia of the vagina, Small scrotum, True hermaphroditism, Ovotestis, Perineal... OMIM:278850
Hereditary Cryohydrocytosis With Reduced Stomatin
Communicating hydrocephalus, Hypoglycorrhachia, Brachydactyly ORPHA:168577
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 6
Dandy-Walker malformation, Hydrocephalus, Lateral ventricle dilatation, Dilated third ventricle, ... OMIM:613154
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome
Uterine prolapse, Bicuspid aortic valve, Ventricular septal defect, Precocious puberty, Cryptorch... ORPHA:438213
Glutaric Acidemia I
Hydrocephalus, Lateral ventricle dilatation OMIM:231670
Juvenile Polyposis Syndrome
Small intestinal polyposis, Juvenile gastrointestinal polyposis, Transient ischemic attack, Juven... ORPHA:2929
Megalencephaly-Severe Kyphoscoliosis-Overgrowth Syndrome
Communicating hydrocephalus, Arachnodactyly, High palate, Micropenis, Ventriculomegaly ORPHA:457359
Incontinentia Pigmenti
Hypoplasia of the fovea, Delayed eruption of teeth, Conical tooth, Oligodontia, Hypodontia, Micro... OMIM:308300
Carnitine Palmitoyltransferase Ii Deficiency
Cardiomyopathy, Hydrocephalus ORPHA:157
Papillorenal Syndrome
Microphthalmia, Edema OMIM:120330
Eisenmenger Syndrome
Ventricular septal defect, Patent ductus arteriosus, Clubbing, Aortopulmonary window, Abnormal he... ORPHA:97214
Leigh Syndrome
Skeletal muscle atrophy, Multiple joint contractures, Ventricular septal defect, Myopathy, Hypert... ORPHA:506
Intellectual Disability-Cataracts-Calcified Pinnae-Myopathy Syndrome
Hip contracture, Bilateral cryptorchidism, Hydrocephalus, Hypogonadism, Narrow iliac wing, Abnorm... ORPHA:3042
Gaucher Disease, Type Ii
Bronchiolitis, Recurrent aspiration pneumonia, Double aortic arch OMIM:230900
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3
Hydrocephalus, Buphthalmos, Hypoplasia of the retina, Everted lower lip vermilion, Microphthalmia... OMIM:253280
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2
High palate, Multiple pulmonary cysts, Ventricular septal defect, Ventriculomegaly OMIM:619418
Acute Disseminated Encephalomyelitis
Abnormal spinal cord morphology, Cerebral edema, Myelitis ORPHA:83597
Ifap Syndrome 1, With Or Without Bresheck Syndrome
Aganglionic megacolon, Hypospadias, Cryptorchidism, Postaxial hand polydactyly, Recurrent upper r... OMIM:308205
Norrie Disease
Hypoplasia of the iris, Microphthalmia, Buphthalmos OMIM:310600
X-Linked Cerebral Adrenoleukodystrophy
Myelopathy, Abnormal spinal cord morphology ORPHA:139396
Autosomal Recessive Polycystic Kidney Disease
Recurrent pneumonia, Spontaneous pneumothorax, Pulmonary hypoplasia ORPHA:731
Johanson-Blizzard Syndrome
Single transverse palmar crease, Anteriorly placed anus, Downturned corners of mouth, Atrial sept... OMIM:243800
Pituitary Deficiency Due To Rathke Cleft Cysts
Intracranial hemorrhage, Hydrocephalus, Hypogonadotropic hypogonadism ORPHA:91350
46,Xx Sex Reversal 1
True hermaphroditism, Hypospadias, Ovotestis, Sex reversal, Azoospermia, Bicornuate uterus, Clito... OMIM:400045
Cryptococcosis
Pneumonia, Nodular pattern on pulmonary HRCT, Hydrocephalus, Pleural effusion, Prostatitis ORPHA:1546
Linear Nevus Sebaceus Syndrome
Microphthalmia, Ventriculomegaly, Dandy-Walker malformation ORPHA:2612
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 13
Communicating hydrocephalus, Occipital encephalocele, Ventriculomegaly, Hydrocephalus, Anencephal... OMIM:615287
Methylmalonic Aciduria And Homocystinuria, Cblc Type
Hydrocephalus, Smooth philtrum OMIM:277400
Tuberous Sclerosis Complex
Respiratory tract infection, Noncommunicating hydrocephalus, Cardiac rhabdomyoma, Pulmonary lymph... ORPHA:805
Large Congenital Melanocytic Nevus
Hydrocephalus ORPHA:626
Persistent Hyperplastic Primary Vitreous
Buphthalmos, Microphthalmia, Phthisis bulbi, Macular hypoplasia ORPHA:91495
Split Cord Malformation
Hypospadias, Cervical spina bifida, Hydrocephalus, Talipes cavus equinovarus, Lipomyelomeningocel... ORPHA:573278
Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay
Communicating hydrocephalus, Cardiomyopathy OMIM:616084
Anemia, Congenital Dyserythropoietic, Type Ia
Syndactyly OMIM:224120
Brain Small Vessel Disease 1 With Or Without Ocular Anomalies
Dilation of Virchow-Robin spaces, Cerebral hemorrhage, Retinal arteriolar tortuosity, Hydrocephal... OMIM:175780
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive
Buphthalmos, Microphthalmia, Phthisis bulbi OMIM:221900
Meningioma
Hydrocephalus, Hypogonadotropic hypogonadism, Neoplasm of the tongue, Cerebral hemorrhage ORPHA:2495
Adrenomyeloneuropathy
Dorsal column degeneration, Atrophy of the spinal cord, Abnormal spinal cord morphology ORPHA:139399
Orotic Aciduria
Atrial septal defect, Ventricular septal defect OMIM:258900
Norrie Disease
Aplasia/Hypoplasia of the lens, Venous insufficiency, Cryptorchidism, Hypoplasia of the iris, Thi... ORPHA:649
Xeroderma Pigmentosum, Complementation Group D
Microphthalmia OMIM:278730
Combined Immunodeficiency-Enteropathy Spectrum
Ventricular septal defect, Intestinal malrotation, Jejunoileal ulceration, Rectal abscess, Congen... ORPHA:436252
Craniopharyngioma
Hypogonadism, Hydrocephalus, Hypogonadotropic hypogonadism ORPHA:54595
Unilateral Polymicrogyria
Stroke, Pulmonary arteriovenous malformation, Abnormal heart morphology ORPHA:268943
Liver Disease, Severe Congenital
Chronic gastritis, Ventricular septal defect, Left atrial enlargement, Pneumonia, Cardiomegaly, H... OMIM:619991
Congenital Disorder Of Glycosylation, Type Iiw
Supernumerary tooth, Tetralogy of Fallot, Ventricular septal defect, Ankyloglossia OMIM:619525
Floating-Harbor Syndrome
Atrial septal defect, Umbilical hernia, Inguinal hernia, Mesocardia OMIM:136140
Isolated Arrhinia
Microphthalmia ORPHA:1134
Amoebiasis Due To Free-Living Amoebae
Abnormal spinal cord morphology, Cerebral edema ORPHA:68
Superficial Siderosis
Atrophy of the spinal cord, Abnormal spinal cord morphology ORPHA:247245
Full Nf2-Related Schwannomatosis
Myelopathy, Hydrocephalus ORPHA:637
Lipodystrophy, Familial Partial, Type 7
Pleural effusion, Spontaneous pneumothorax, Pulmonary arteriovenous malformation, Narrow mouth OMIM:606721
Primary Sjögren Syndrome
Abnormal spinal cord morphology, Xerostomia ORPHA:289390

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 Kif7

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 Kif7.

No publications found that use IMPC mice or data for Kif7.

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