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Gene: Fuz MGI:1917550

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Gene Summary

Name:
fuzzy planar cell polarity protein
Synonyms:
b2b1273Clo,  2600013E07Rik

Order Alleles

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.

Phenotype System Allele Zyg Sex Life Stage P Value
abnormal heart looping Fuzem1(IMPC)Mbp HOM E9.5 0.00
abnormal heart morphology Fuzem1(IMPC)Mbp HOM E9.5 0.00
polydactyly Fuzem1(IMPC)Mbp HOM E15.5 0.00
abnormal tail morphology Fuzem1(IMPC)Mbp HOM E15.5 0.00
abnormal optic vesicle formation Fuzem1(IMPC)Mbp HOM E9.5 0.00
cleft palate Fuzem1(IMPC)Mbp HOM E15.5 0.00
anophthalmia Fuzem1(IMPC)Mbp HOM E15.5 0.00
abnormal limb morphology Fuzem1(IMPC)Mbp HOM E15.5 0.00
abnormal neural tube closure Fuzem1(IMPC)Mbp HOM E9.5 0.00
facial cleft Fuzem1(IMPC)Mbp HOM E15.5 0.00
edema Fuzem1(IMPC)Mbp HOM E15.5 0.00
syndactyly Fuzem1(IMPC)Mbp HOM E15.5 0.00
abnormal craniofacial morphology Fuzem1(IMPC)Mbp HOM E15.5 0.00
abnormal neural tube morphology Fuzem1(IMPC)Mbp HOM E9.5 0.00
abnormal facial morphology Fuzem1(IMPC)Mbp HOM E15.5 0.00
preweaning lethality, complete penetrance Fuzem1(IMPC)Mbp HOM   Early adult 0.00
hemorrhage Fuzem1(IMPC)Mbp HOM E15.5 0.00

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lacZ Expression

Expression data not available

Associated Images

Images submitted by IMPC centres for a selection of procedures. Each set of images is available to view in our image comparator.

X-ray

XRay Images Whole Body Dorso Ventral

75 Images

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X-ray

XRay Images Whole Body Lateral Orientation

25 Images

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Gross Morphology Embryo E9.5

Images

8 Images

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Gross Morphology Embryo E14.5-E15.5

Images

12 Images

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MicroCT E14.5-E15.5

Embryo reconstruction

8 Images

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Human diseases caused by Fuz mutations

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

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

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

Disease Similarity of
phenotypes		 Matching phenotypes Source
Caudal Regression Syndrome
Missing ribs, Abnormal iliac wing morphology, Abnormal pelvic girdle bone morphology, Pulmonary h... ORPHA:3027
Neural Tube Defects, Susceptibility To
Spina bifida occulta, Hydrocephalus, Myelomeningocele, Anencephaly OMIM:182940

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

Disease Similarity of
phenotypes		 Matching phenotypes Source
Cleft Lip/Palate
Agenesis of lateral incisor, Bilateral cleft palate, Hypoplasia of the maxilla, Conductive hearin... ORPHA:199306
Congenital Absence Of Upper Arm And Forearm With Hand Present
Syndactyly, Abnormal lung morphology, Cleft palate, Upper limb phocomelia, Abnormal heart morphol... ORPHA:294975
Oligodontia
Orofacial cleft, Oligodontia, Agenesis of mandibular premolar, Widely spaced teeth, Microdontia, ... ORPHA:99798
Microphthalmia, Syndromic 12
Anophthalmia, Ventricular septal defect, Intestinal malrotation, Congenital diaphragmatic hernia,... OMIM:615524
Congenital Alveolar Capillary Dysplasia
Absent gallbladder, Bicuspid aortic valve, Ventricular septal defect, Aganglionic megacolon, Inte... ORPHA:210122
Syndactyly Type 2
Mesoaxial polydactyly, Sandal gap, Camptodactyly of finger, 2-3 toe syndactyly, Symphalangism aff... ORPHA:93403
Heterotaxy, Visceral, 4, Autosomal
Ventricular septal defect, Dextrocardia, Complete atrioventricular canal defect, Dextrotransposit... OMIM:613751
Brachial Amelia, Cleft Lip, And Holoprosencephaly
Bilateral cleft palate, Short femur, Ventricular septal defect, Bilateral cleft lip, Cleft upper ... OMIM:601357
Facial Clefting, Oblique, 1
Tessier number 4 facial cleft, Cleft upper lip, Cleft palate, Coloboma, Deep palmar crease, Micro... OMIM:600251
Diaphragmatic Defect-Limb Deficiency-Skull Defect Syndrome
Omphalocele, Finger syndactyly, Congenital diaphragmatic hernia, Aplasia/hypoplasia of the humeru... ORPHA:2141
Atrioventricular Septal Defect, Susceptibility To, 2
Pulmonary artery atresia, Atrioventricular canal defect, Right aortic arch with mirror image bran... OMIM:606217
Holoprosencephaly 9
Anophthalmia, Decreased response to growth hormone stimulation test, Anterior pituitary hypoplasi... OMIM:610829
Lung Agenesis-Heart Defect-Thumb Anomalies Syndrome
Bicuspid aortic valve, Proximal placement of thumb, Congenital diaphragmatic hernia, Abnormal thu... ORPHA:1120
Fryns Microphthalmia Syndrome
Anophthalmia, Facial cleft, Bilateral cleft lip and palate, Neural tube defect, Microphthalmia OMIM:600776
Anophthalmia Plus Syndrome
Anophthalmia, Spina bifida, Non-midline cleft lip, Facial cleft, Cleft palate, Bilateral cleft li... ORPHA:1104
Fetal Encasement Syndrome
Omphalocele, Bilateral trilobed lung, Congenital diaphragmatic hernia, Upper limb undergrowth, Lo... OMIM:613630
Congenital Heart Defects, Multiple Types, 6
Ventricular septal defect, Hypoplastic pulmonary veins, Secundum atrial septal defect, Complete a... OMIM:613854
Congenital Heart Defects, Multiple Types, 7
Absence of the pulmonary valve, Aortopulmonary collateral arteries, Right aortic arch, Pulmonic s... OMIM:618780
Florid Cemento-Osseous Dysplasia
Abnormal trabecular bone morphology, Jaw swelling, Multiple bony cystic lesions, Mandibular osteo... ORPHA:83451
Pierre Robin Syndrome
Glossoptosis, Pierre-Robin sequence, Cleft palate, Micrognathia OMIM:261800
Tricho-Dento-Osseous Syndrome
Increased bone mineral density, Dental enamel pits, Periapical tooth abscess, Enamel hypominerali... ORPHA:3352
Pericardial And Diaphragmatic Defect
Meckel diverticulum, Bicuspid aortic valve, Intestinal malrotation, Congenital diaphragmatic hern... ORPHA:2847
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins
Bicuspid aortic valve, Parachute mitral valve, Asplenia, Abnormal lung lobation, Atrial septal de... OMIM:265380
Synpolydactyly 1
2nd-5th toe middle phalangeal hypoplasia, Finger syndactyly, Broad hallux, Mesoaxial hand polydac... OMIM:186000
Polydactyly, Preaxial Ii
Syndactyly, Duplication of thumb phalanx, Opposable triphalangeal thumb, Preaxial hand polydactyl... OMIM:174500
Mohr Syndrome
Median cleft lip, Accessory oral frenulum, Micrognathia, Hypoplasia of the maxilla, Hydrocephalus... OMIM:252100
Cutis Laxa-Marfanoid Syndrome
Abnormal heart valve morphology, Arachnodactyly, Congenital diaphragmatic hernia, Flexion contrac... ORPHA:171719
Vacterl Association, X-Linked, With Or Without Hydrocephalus
Short humerus, Dextrocardia, Proximal placement of thumb, Absent radius, Esophageal atresia, Trac... OMIM:314390
Heterotaxy, Visceral, 7, Autosomal
Atrial septal defect, Dextrocardia, Mitral atresia, Intestinal malrotation, Situs inversus totali... OMIM:616749
Microgastria-Limb Reduction Defect Syndrome
Congenital muscular torticollis, Anophthalmia, Abnormality of the spleen, Abnormal finger morphol... ORPHA:2538
Frontonasal Dysplasia 1
Median cleft lip, Hypoplasia of the maxilla, Conductive hearing impairment, Hypoplastic frontal s... OMIM:136760
Isolated Pierre Robin Syndrome
Glossoptosis, Cleft palate, Micrognathia ORPHA:718
Thanatophoric Dysplasia Type 2
Encephalocele, Micromelia, Patent ductus arteriosus, Short thorax, Hydrocephalus, Aplasia/Hypopla... ORPHA:93274
Congenital Contractural Arachnodactyly
Arachnodactyly, Camptodactyly of finger, Intestinal malrotation, Flexion contracture, Tracheoesop... ORPHA:115
Pierre Robin Sequence With Facial And Digital Anomalies
Glossoptosis, Pierre-Robin sequence, Cleft palate, Micrognathia OMIM:311895
Diaphragmatic Defects, Limb Deficiencies, And Ossification Defects Of Skull
Omphalocele, Syndactyly, Toe syndactyly, Intestinal malrotation, Congenital diaphragmatic hernia,... OMIM:601163
Mandibulofacial Dysostosis With Alopecia
Dental crowding, Delayed eruption of primary teeth, Micrognathia, Hypoplasia of the maxilla, Tris... OMIM:616367
Patent Ductus Arteriosus-Bicuspid Aortic Valve-Hand Anomalies Syndrome
Pseudocoarctation of the aorta, Bicuspid aortic valve, Abnormal hand morphology, Patent ductus ar... ORPHA:228190
Microphthalmia, Isolated, With Coloboma 5
Anophthalmia, Bilateral microphthalmos, Orofacial cleft, Holoprosencephaly, Chorioretinal colobom... OMIM:611638
Meckel Syndrome, Type 8
Encephalocele, Occipital encephalocele, Anophthalmia, Pericardial effusion, Polydactyly, Narrow c... OMIM:613885
Cutis Laxa, Neonatal, With Marfanoid Phenotype
Arachnodactyly, Congenital diaphragmatic hernia, Hip dislocation, Abnormal heart morphology, Emph... OMIM:614100
Split-Hand/Foot Malformation 3
Microretrognathia, Abnormal pinna morphology, Hypoplasia of the maxilla, Cleft palate, High palat... OMIM:246560
Czeizel-Losonci Syndrome
Posterolateral diaphragmatic hernia, Hitchhiker thumb, Single transverse palmar crease, Dextrocar... ORPHA:2437
Mesomelic Dwarfism-Cleft Palate-Camptodactyly Syndrome
Bowing of the long bones, Camptodactyly of finger, Elbow dislocation, Abnormal lung lobation, Cle... ORPHA:2631
Familial Median Cleft Of The Upper And Lower Lips
Irregular dentition, Median cleft lip, Cleft upper lip, Diastema, Abnormal mandible morphology, A... ORPHA:401942
Microphthalmia With Cyst, Bilateral Facial Clefts, And Limb Anomalies
Broad proximal phalanges of the hand, Optic nerve hypoplasia, Cleft upper lip, High, narrow palat... OMIM:607597
Patent Ductus Arteriosus And Bicuspid Aortic Valve With Hand Anomalies
Pseudocoarctation of the aorta, Bicuspid aortic valve, Short toe, Patent ductus arteriosus, Short... OMIM:604381
17Q12 Microduplication Syndrome
Finger syndactyly, Toe syndactyly, Tracheoesophageal fistula, Cleft palate, Atrial septal defect,... ORPHA:261272
Non-Eruption Of Teeth-Maxillary Hypoplasia-Genu Valgum Syndrome
Delayed eruption of teeth, Low-set, posteriorly rotated ears, Abnormal dental morphology, Alveola... ORPHA:2972
Polydactyly, Postaxial, Type A1
Syndactyly, Preaxial hand polydactyly, Postaxial hand polydactyly, Postaxial foot polydactyly, Tr... OMIM:174200
Microphthalmia, Syndromic 9
Anophthalmia, Congenital diaphragmatic hernia, Agenesis of pulmonary vessels, Atrial septal defec... OMIM:601186
Congenital Unilateral Hypoplasia Of Depressor Anguli Oris
Ventricular septal defect, Congenital diaphragmatic hernia, Tetralogy of Fallot, Cleft palate, Ab... ORPHA:1166
Neuronal Intestinal Pseudoobstruction
Patent ductus arteriosus, Abnormal cardiac septum morphology, Congenital diaphragmatic hernia, Ma... ORPHA:99811
Regional Odontodysplasia
Dental enamel pits, Abnormality of dental color, Gingivitis, Yellow-brown discoloration of the te... ORPHA:83450
Tetraamelia Syndrome 2
Microretrognathia, Absent nipple, Bilateral cleft lip, Micrognathia, Cleft palate, Glossoptosis, ... OMIM:618021
Orofaciodigital Syndrome I
Lobulated tongue, High palate, Agenesis of corpus callosum, Microretrognathia, Hamartoma of tongu... OMIM:311200
Catel-Manzke Syndrome
Low-set, posteriorly rotated ears, Ventriculomegaly, Camptodactyly of finger, Joint stiffness, Mi... ORPHA:1388
Scimitar Syndrome
Abnormal lung morphology, Pulmonary artery hypoplasia, Hypoplasia of the diaphragm, Hernia, Atria... ORPHA:185
Cocaine Embryofetopathy
Encephalocele, Thoracoabdominal eventration, Short distal phalanx of finger ORPHA:1911
Oculomaxillofacial Dysostosis
Brachydactyly, Median cleft lip, Camptodactyly of finger, Abnormality of the dentition, Abnormali... ORPHA:1794
Acrofacial Dysostosis, Weyers Type
Conical tooth, Abnormality of the dentition, Postaxial hand polydactyly, Small hand, Facial cleft... ORPHA:952
Meacham Syndrome
Bicuspid aortic valve, Atrial septal defect, Scimitar anomaly, Diaphragmatic eventration, Congeni... OMIM:608978
Hypertelorism, Microtia, Facial Clefting Syndrome
Cleft upper lip, 2-3 toe syndactyly, Cleft palate, Abnormal heart morphology, Facial cleft, Small... OMIM:239800
Hydrolethalus
Low-set, posteriorly rotated ears, Anophthalmia, Micrognathia, Cryptorchidism, Hydrocephalus, Sub... ORPHA:2189
Greig Cephalopolysyndactyly Syndrome
Finger syndactyly, Broad hallux phalanx, Toe syndactyly, Congenital diaphragmatic hernia, Preaxia... ORPHA:380
Cleft-Limb-Heart Malformation Syndrome
Syndactyly, Truncus arteriosus OMIM:215850
Pallister-Hall-Like Syndrome
Occipital encephalocele, Toe syndactyly, Micromelia, Postaxial hand polydactyly, Hydrocephalus, H... OMIM:241800
Methimazole Embryofetopathy
Ventricular septal defect, Esophageal atresia, Tracheoesophageal fistula, Coarctation of aorta, A... ORPHA:1923
Conotruncal Heart Malformations
Broad hallux, Postaxial polydactyly, Complete atrioventricular canal defect, Double outlet right ... OMIM:217095
Auriculocondylar Syndrome 2A
Overfolding of the superior helices, Dental crowding, Posteriorly rotated ears, Micrognathia, Mic... OMIM:614669
Truncus Arteriosus
Abnormal coronary artery morphology, Anomalous origin of one pulmonary artery from ascending aort... ORPHA:3384
Gombo Syndrome
Abnormal heart morphology, Radial deviation of finger, Microphthalmia, Clinodactyly, Brachydactyly OMIM:233270
Genitopalatocardiac Syndrome
Ventricular septal defect, Cleft palate, Right aortic arch, Transposition of the great arteries, ... OMIM:231060
Orofacial Cleft 15
Agenesis of lateral incisor, Bilateral cleft palate, Bilateral cleft lip, Cryptorchidism, Protrud... OMIM:616788
Mandibulofacial Dysostosis-Microcephaly Syndrome
Accessory oral frenulum, Micrognathia, Hypoplasia of the maxilla, Absent tragus, Overfolded helix... ORPHA:79113
Craniofacial Conodysplasia
Spinal cord compression, Hydrocephalus, Cone-shaped epiphyses of the phalanges of the hand ORPHA:85168
Heterotaxy, Visceral, 6, Autosomal
Dextrocardia, Situs inversus totalis, Common atrium, Right aortic arch, Hypoplastic left heart, T... OMIM:614779
Aarskog-Scott Syndrome
Delayed eruption of teeth, Low-set, posteriorly rotated ears, Camptodactyly of finger, Cleft uppe... ORPHA:915
Oculocerebrocutaneous Syndrome
Anophthalmia, Congenital hip dislocation, Abnormal thorax morphology, Orbital encephalocele, Micr... OMIM:164180
Cerebellar Vermis Aplasia With Associated Features Suggesting Smith-Lemli-Opitz Syndrome And Meckel Syndrome
Occipital encephalocele, Postaxial polydactyly OMIM:213010
Heterotaxy, Visceral, 12, Autosomal
Dextrotransposition of the great arteries, Atrial septal defect, Pulmonary artery atresia, Patent... OMIM:619702
8p23.1 deletion syndrome
Atrial septal defect, Atrioventricular canal defect, Congenital diaphragmatic hernia, Abnormal he... DECIPHER:39
Chromosome 17Q11.2 Duplication Syndrome, 1.4-Mb
Thin upper lip vermilion, Unilateral microphthalmos, Bilateral cleft lip and palate, High palate,... OMIM:618874
Congenital Tracheomalacia
Cardiomegaly, Gastroesophageal reflux, Atrial septal defect, Emphysema, Single ventricle, Broncho... ORPHA:95430
Cerebrooculonasal Syndrome
Anophthalmia, Postaxial hand polydactyly, Facial cleft, High palate, Widely spaced teeth, Solitar... ORPHA:66625
Gracile Bone Dysplasia
Death in infancy, Hydrocephalus, Aniridia, Microphthalmia, Decreased skull ossification, Ankylogl... OMIM:602361
Metaphyseal Dysplasia With Maxillary Hypoplasia With Or Without Brachydactyly
Hypoplasia of the maxilla, Premature loss of teeth, Thin vermilion border, Short philtrum, Osteop... OMIM:156510
Intellectual Disability-Brachydactyly-Pierre Robin Syndrome
Tented upper lip vermilion, Exaggerated cupid's bow, Small earlobe, Abnormality of canine, Pierre... ORPHA:364577
Microcephaly, Congenital Heart Disease, Unilateral Renal Agenesis, And Hyposegmented Lungs
Hydranencephaly, Truncus arteriosus, Ventricular septal defect, Short distal phalanx of finger OMIM:601355
Orofaciodigital Syndrome V
Thin upper lip vermilion, Median cleft lip, Aganglionic megacolon, Unilateral cryptorchidism, Ham... OMIM:174300
Tooth Agenesis, Selective, X-Linked, 1
Agenesis of lateral incisor, Aplasia of the maxilla, Selective tooth agenesis, Agenesis of premol... OMIM:313500
Autosomal Recessive Distal Osteolysis Syndrome
Hypoplasia of the maxilla, Osteolysis, Abnormality of the dentition ORPHA:2776
Dk Phocomelia Syndrome
Phocomelia, Encephalocele OMIM:223340
Double Outlet Left Ventricle
Double outlet left ventricle, Ventricular septal defect, Abnormal coronary artery course, Cardiom... ORPHA:3427
Neurodevelopmental Disorder With Spasticity, Hypomyelinating Leukodystrophy, And Brain Abnormalities
Unilateral wrist flexion contracture, Femoral retroversion, Knee flexion contracture, Talipes equ... OMIM:616531
Scalp Defects-Postaxial Polydactyly Syndrome
Encephalocele, Postaxial polydactyly type A ORPHA:1003
Fanconi Anemia, Complementation Group B
Ventricular septal defect, Optic disc hypoplasia, Absent thumb, Esophageal atresia, Patent ductus... OMIM:300514
Pyle Disease
Delayed eruption of teeth, Mandibular prognathia, Persistence of primary teeth, Carious teeth, Hy... OMIM:265900
Lujan-Fryns Syndrome
Dental crowding, Camptodactyly of finger, Abnormality of the dentition, Micrognathia, Hypoplasia ... ORPHA:776
Heterotaxy, Visceral, 8, Autosomal
Atrial situs inversus, Atrial situs ambiguous, Ventricular septal defect, Aortopulmonary collater... OMIM:617205
Congenital Heart Defects, Hamartomas Of Tongue, And Polysyndactyly
Broad hallux, Hamartoma of tongue, Complete atrioventricular canal defect, Postaxial hand polydac... OMIM:217085
Meckel Syndrome, Type 4
Encephalocele, Bowing of the long bones, Ventricular septal defect, Hydrocephalus, Postaxial hand... OMIM:611134
Symphalangism With Multiple Anomalies Of Hands And Feet
Finger syndactyly, Small hypothenar eminence, Toe syndactyly, 2-5 finger cutaneous syndactyly, Ab... ORPHA:3246
Linear Skin Defects With Multiple Congenital Anomalies 2
Ventricular hypertrophy, Sandal gap, Congenital diaphragmatic hernia, Atrial septal defect, Micro... OMIM:300887
Lowry-Maclean Syndrome
Osteopenia, Craniosynostosis, Delayed eruption of primary teeth, Micrognathia, High, narrow palat... ORPHA:2409
Stickler Syndrome Type 1
Hypoplasia of the maxilla, Osteoarthritis, Sensorineural hearing impairment, Cleft palate, Joint ... ORPHA:90653
Hypertrichosis Lanuginosa Congenita
Delayed eruption of teeth, Gingival overgrowth, Hearing impairment, Abnormality of the dentition ORPHA:2222
Syndactyly, Type Iv
1-5 finger syndactyly, Postaxial polydactyly, 6 metacarpals, 2-3 toe syndactyly, Supernumerary me... OMIM:186200
Renal-Hepatic-Pancreatic Dysplasia 2
Hepatomegaly, Malformation of the hepatic ductal plate, Situs inversus totalis, Asplenia, Abnorma... OMIM:615415
Abnormal Origin Of Right Or Left Pulmonary Artery From The Aorta
Recurrent respiratory infections, Atrial septal defect, Ventricular septal defect, Patent ductus ... ORPHA:99050
Mesoaxial Hexadactyly And Cardiac Malformation
Torticollis, Ventricular septal defect, Patent ductus arteriosus, Hand polydactyly, Pulmonic sten... OMIM:249670
Lethal Congenital Contracture Syndrome 11
Flexion contracture, Elbow flexion contracture, Distal arthrogryposis, Bilateral talipes equinova... OMIM:617194
Opitz Gbbb Syndrome
Micrognathia, High palate, Agenesis of corpus callosum, Dandy-Walker malformation, Enlarged ovari... ORPHA:2745
Congenital Radioulnar Synostosis
Syndactyly, Abnormal morphology of the radius, Congenital hip dislocation, Abnormal morphology of... ORPHA:3269
Maxillonasal Dysplasia
Mandibular prognathia, Open bite, Hypoplasia of the maxilla, Cleft palate, Tooth agenesis, Microd... ORPHA:1248
Lowry-Maclean Syndrome
Delayed eruption of teeth, Cleft palate, Craniosynostosis OMIM:600252
Meckel Syndrome, Type 2
Encephalocele, Bowing of the long bones, Postaxial hand polydactyly, Meningocele, Anencephaly, Po... OMIM:603194
Otodental Syndrome
Delayed eruption of teeth, High-frequency sensorineural hearing impairment, Abnormal dental ename... ORPHA:2791
Distal 7Q11.23 Microduplication Syndrome
Patent ductus arteriosus, Frontal encephalocele, Hydrocephalus, Aortic aneurysm ORPHA:261102
Crouzon Syndrome
Hypoplasia of the maxilla, Hydrocephalus, Narrow palate, Multiple suture craniosynostosis, Conduc... ORPHA:207
Frontorhiny
Encephalocele, Low-set, posteriorly rotated ears, Diabetes insipidus, Camptodactyly of finger, Hy... ORPHA:391474
Hemifacial Hyperplasia
Hypoplasia of the maxilla, Dental malocclusion OMIM:133900
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly
Encephalocele, Natal tooth, Rhizomelia, Postaxial polydactyly, Patent ductus arteriosus, Squared ... OMIM:616300
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 3
Syndactyly, Postaxial hand polydactyly, Hydrocephalus, Ventriculomegaly OMIM:615938
Mosaic Trisomy 1
Single transverse palmar crease, Congenital diaphragmatic hernia, Finger clinodactyly, Pulmonary ... ORPHA:1692
Ankyloglossia With Or Without Tooth Anomalies
Supernumerary tooth, Ankyloglossia OMIM:106280
Congenital Tracheal Stenosis
Meckel diverticulum, Ventricular septal defect, Abnormal bronchus morphology, Abnormal stomach mo... ORPHA:141127
Mosaic Trisomy 9
Micromelia, Polyhydramnios, Hydrops fetalis, Finger clinodactyly, High palate, Endocardial fibroe... ORPHA:99776
Orofaciodigital Syndrome Type 2
Natal tooth, Median cleft lip, Hamartoma of tongue, Micrognathia, Unilateral alveolar cleft of ma... ORPHA:2751
Delpire-Mcneill Syndrome
Ventricular septal defect, Hip dislocation, Tracheoesophageal fistula, Dysphagia OMIM:619083
Nphp3-Related Meckel-Like Syndrome
Intestinal malrotation, Abnormality of the pancreas, Abnormal liver parenchyma morphology, Pulmon... ORPHA:3032
Gingival Fibromatosis-Progressive Deafness Syndrome
Delayed eruption of teeth, Sensorineural hearing impairment, Gingival fibromatosis, Gingival over... ORPHA:2027
20P12.3 Microdeletion Syndrome
Hypoplasia of the maxilla, Microtia, Narrow mouth, Thickened helices, Malar flattening, Ventricul... ORPHA:261295
Dentinogenesis Imperfecta
Generalized hypoplasia of dental enamel, Odontodysplasia, Selective tooth agenesis, Pulp oblitera... ORPHA:49042
Ciliary Dyskinesia, Primary, 40
Situs inversus totalis, Patent ductus arteriosus, Right aortic arch, Interrupted inferior vena ca... OMIM:618300
Otodental Dysplasia
Delayed eruption of teeth, Agenesis of premolar, Sensorineural hearing impairment, Tooth ankylosi... OMIM:166750
Vacterl/Vater Association
Omphalocele, Finger syndactyly, Congenital diaphragmatic hernia, Preaxial hand polydactyly, Abnor... ORPHA:887
Kdm5C-Related Syndromic X-Linked Intellectual Disability
Camptodactyly of finger, Hypoplasia of the maxilla, Cryptorchidism, Protruding ear, High palate, ... ORPHA:85279
Distal Deletion 19P
Long toe, Vaginal hernia, Ventricular septal defect, Arachnodactyly, Cleft palate, Keloids, Tricu... ORPHA:96129
Microphthalmia With Limb Anomalies
Anophthalmia, Single transverse palmar crease, 2-3 toe cutaneous syndactyly, Tibial bowing, Campt... OMIM:206920
Cleft Palate With Or Without Ankyloglossia, X-Linked
Ankyloglossia, Bifid uvula, Cleft palate OMIM:303400
Thanatophoric Dysplasia
Atrial septal defect, Micromelia, Abnormal sacroiliac joint morphology, Patent ductus arteriosus,... ORPHA:2655
Spinal Muscular Atrophy With Congenital Bone Fractures 2
Skeletal muscle atrophy, Spinal muscular atrophy, Patent ductus arteriosus, Flexion contracture, ... OMIM:616867
Catifa Syndrome
Delayed eruption of teeth, Cleft lip, Cleft palate, Microtia, Increased overbite, Camptodactyly, ... OMIM:618761
Aortic Arch Anomaly With Peculiar Facies And Mental Retardation
Right aortic arch with mirror image branching OMIM:107500
Treacher-Collins Syndrome
Micrognathia, Hypoplasia of the maxilla, Glossoptosis, High palate, Abnormality of bone mineral d... ORPHA:861
Muscular Hypertrophy-Hepatomegaly-Polyhydramnios Syndrome
Microphthalmia, Hydrocephalus, Occipital encephalocele, Ventriculomegaly ORPHA:324416
Right Atrial Isomerism
Atrial septal defect, Right atrial isomerism, Inguinal hernia, Ventricular septal defect, Aortopu... OMIM:208530
Isolated Dandy-Walker Malformation
Encephalocele, Tetralogy of Fallot, Dandy-Walker malformation ORPHA:217
Dyssegmental Dysplasia, Silverman-Handmaker Type
Encephalocele, Broad long bones, Micromelia, Bowing of the legs, Hypoplastic ilia, Hydrocephalus,... ORPHA:1865
Axial Mesodermal Dysplasia Spectrum
Omphalocele, Congenital diaphragmatic hernia, Abnormality of the spleen, Anorectal anomaly, Trach... ORPHA:1834
8Q22.1 Microdeletion Syndrome
Underfolded helix, Camptodactyly of finger, Craniosynostosis, Abnormality of the dentition, Hypop... ORPHA:178303
Dyssegmental Dysplasia, Rolland-Desbuquois Type
Encephalocele, Bowing of the long bones, Broad long bones, Micromelia, Metaphyseal widening, Hydr... OMIM:224400
Cleft Velum
Cleft soft palate, Hypoplasia of the maxilla, Velopharyngeal insufficiency, Recurrent otitis medi... ORPHA:99772
Laryngotracheoesophageal Cleft Type 4
Abnormality of the spleen, Abnormal mesentery morphology, Tracheoesophageal fistula, Abnormal car... ORPHA:93941
Auriculocondylar Syndrome 1
Overfolding of the superior helices, Dental crowding, Posteriorly rotated ears, Micrognathia, Ank... OMIM:602483
Acrofacial Dysostosis, Catania Type
Finger syndactyly, Brachydactyly, Abnormality of the dentition, Carious teeth, Small hand, Facial... ORPHA:1786
Triphalangeal Thumb With Polysyndactyly
Finger syndactyly, Preaxial hand polydactyly, Postaxial hand polydactyly, Triphalangeal thumb, Br... OMIM:190605
14Q24.1Q24.3 Microdeletion Syndrome
Limited elbow extension and supination, Atrial septal defect, Ventricular septal defect, Short th... ORPHA:401935
Odontochondrodysplasia 1
Delayed eruption of teeth, Recurrent respiratory infections, Short metacarpal, Brachydactyly, Mic... OMIM:184260
Kinsship Syndrome
Osteopenia, Thin upper lip vermilion, Mandibular prognathia, Ventriculomegaly, Death in infancy, ... OMIM:619297
Jeune Syndrome
Abnormal clavicle morphology, Toe syndactyly, Micromelia, Postaxial hand polydactyly, Short thora... ORPHA:474
Intellectual Developmental Disorder With Cardiac Defects And Dysmorphic Facies
Long toe, Recurrent respiratory infections, Atrial septal defect, Omphalocele, Overlapping toe, V... OMIM:618316
Gingival Fibromatosis-Facial Dysmorphism Syndrome
Delayed eruption of teeth, Abnormal dental morphology, Exaggerated cupid's bow, Gingival fibromat... ORPHA:2025
Mycophenolate Mofetil Embryopathy
Ventricular septal defect, Congenital diaphragmatic hernia, Tracheoesophageal fistula, Coarctatio... ORPHA:268249
Contractures, Congenital, Torticollis, And Malignant Hyperthermia
Arthrogryposis multiplex congenita, Natal tooth, Cleft palate, Abnormal mandible morphology OMIM:217150
Ciliary Dyskinesia, Primary, 37
Right aortic arch, Dextrocardia, Bronchiectasis, Situs inversus totalis OMIM:617577
Pycnodysostosis
Obtuse angle of mandible, Decreased response to growth hormone stimulation test, Micrognathia, Hy... ORPHA:763
Elsahy-Waters Syndrome
Mandibular prognathia, Hypoplasia of the maxilla, Bilateral cryptorchidism, Anteriorly placed anu... OMIM:211380
Hypomandibular Faciocranial Dysostosis
Pursed lips, Micrognathia, Hypoplasia of the maxilla, Aglossia, Malar flattening, Coronal cranios... OMIM:241310
Radioulnar Synostosis-Microcephaly-Scoliosis Syndrome
Finger syndactyly, Abnormality of the elbow, Abnormal rib morphology, Pectus carinatum, Radioulna... ORPHA:3268
Syndactyly, Type Iii
Absent middle phalanx of 5th finger, Syndactyly, 4-5 finger syndactyly, Short 5th finger OMIM:186100
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome
Anophthalmia, Ventricular septal defect, Esophageal atresia, Patent ductus arteriosus, Tracheoeso... ORPHA:77298
Short Stature-Wormian Bones-Dextrocardia Syndrome
Delayed eruption of teeth, Abnormality of the philtrum, Camptodactyly of finger, Micrognathia, Cr... ORPHA:2863
Van Esch-O'Driscoll Syndrome
Atrial septal defect, Ventricular septal defect, Esophageal atresia, Pulmonary artery stenosis, T... OMIM:301030
Pulmonary Atresia With Intact Ventricular Septum
Pulmonary artery atresia, Hypoplastic right heart OMIM:265150
Cortical Dysplasia, Complex, With Other Brain Malformations 15
Thin upper lip vermilion, Hypoplasia of the maxilla, Protruding ear, Smooth philtrum, Widely-spac... OMIM:618737
Immunodeficiency 90 With Encephalopathy, Functional Hyposplenia, And Hepatic Dysfunction
Ventricular septal defect, Portal inflammation, Elevated circulating alanine aminotransferase con... OMIM:613759
Aminopterin/Methotrexate Embryofetopathy
Encephalocele, Aplasia/Hypoplasia of the thumb, Finger syndactyly, Ventricular septal defect, Mic... ORPHA:1908
Acces Syndrome
Recurrent respiratory infections, Hip dislocation, Tracheoesophageal fistula, Hip dysplasia, Spli... OMIM:619959
Schisis Association
Omphalocele, Congenital diaphragmatic hernia, Micromelia, Tracheoesophageal fistula, Cleft palate... ORPHA:63862
Osteochondrodysplasia, Brachydactyly, And Overlapping Malformed Digits
Brachydactyly, Broad hallux, Overlapping toe, Short hallux, Triangular shaped phalanges of the ha... OMIM:618167
Joubert Syndrome 16
Encephalocele, Polydactyly, Dandy-Walker malformation OMIM:614465
Serkal Syndrome
Ventricular septal defect, Congenital diaphragmatic hernia, Malrotation of small bowel, Pulmonary... ORPHA:139466
Acro-Renal-Mandibular Syndrome
Hypoplasia of the ulna, Finger syndactyly, Hypoplastic scapulae, Aplasia/Hypoplasia of the tongue... ORPHA:958
Atelosteogenesis, Type Ii
Sandal gap, Micromelia, Bifid humerus, Lacunar halos around chondrocytes, Flat acetabular roof, S... OMIM:256050
Anencephaly 2
Anophthalmia, Median cleft lip, Anencephaly, Cleft maxillary alveolar ridge, Median cleft palate OMIM:619452
Distal Limb Deficiencies-Micrognathia Syndrome
Microretrognathia, Low-set, posteriorly rotated ears, Tarsal synostosis, Hypoplasia of the maxill... ORPHA:1307
Congenital Diaphragmatic Hernia
Intestinal malrotation, Aplasia/Hypoplasia of the diaphragm, Pulmonary hypoplasia, Congenital dia... ORPHA:2140
Temtamy Preaxial Brachydactyly Syndrome
Proximal radio-ulnar synostosis, Abnormal spaced incisors, Tarsal synostosis, Abnormality of the ... ORPHA:363417
Intellectual Disability-Spasticity-Ectrodactyly Syndrome
Finger syndactyly, Abnormality of the upper limb, Abnormal hip bone morphology, Clinodactyly of t... ORPHA:1891
Microcephaly-Cardiac Defect-Lung Malsegmentation Syndrome
Ventricular septal defect, Bilateral single transverse palmar creases, Abnormal lung lobation, Ab... ORPHA:2516
Syndactyly Type 1
Finger syndactyly, Toe syndactyly, Symphalangism affecting the phalanges of the hand ORPHA:93402
Oculocerebrocutaneous Syndrome
Finger syndactyly, Congenital hip dislocation, Aplasia/Hypoplasia of the distal phalanges of the ... ORPHA:1647
X-Linked Intellectual Disability, Sutherland-Haan Type
Mandibular prognathia, Hypoplasia of the maxilla, Macrotia, Decreased testicular size, Anal atresia ORPHA:93950
Hartsfield Syndrome
Encephalocele, Split hand, Lobar holoprosencephaly, Aplasia/Hypoplasia of the radius, Microphthalmia ORPHA:2117
Hallux Varus And Preaxial Polysyndactyly
Preaxial hand polydactyly, Syndactyly, Broad hallux, Hallux varus OMIM:234280
W Syndrome
Submucous cleft hard palate, Agenesis of maxillary central incisor, Camptodactyly, Broad uvula, U... ORPHA:2804
Autosomal Recessive Robinow Syndrome
Tented upper lip vermilion, Micrognathia, Orofacial cleft, Downturned corners of mouth, Short phi... ORPHA:1507
Tricuspid Atresia
Atrial septal defect, Ventricular septal defect, Patent foramen ovale, Hypoplasia of right ventri... ORPHA:1209
Chromosome 13Q33-Q34 Deletion Syndrome
Delayed eruption of teeth, Encephalocele, Overlapping toe, Single transverse palmar crease, Left ... OMIM:619148
Isolated Congenital Hypoglossia/Aglossia
Microglossia, Temporomandibular joint ankylosis, Cleft palate, Micrognathia ORPHA:141152
Pentalogy Of Cantrell
Omphalocele, Absent gallbladder, Ventricular septal defect, Abnormal pericardium morphology, Cong... ORPHA:1335
Dental Anomalies And Short Stature
Mandibular prognathia, Hypoplasia of the maxilla, Oligodontia, Widely spaced teeth, Microdontia, ... OMIM:601216
Spinal Muscular Atrophy, Segmental
Hand muscle atrophy, Abnormal anterior horn cell morphology OMIM:183020
Ventricular Septal Defect 1
Ventricular septal defect, Pulmonic stenosis, Atrial septal defect, Atrioventricular canal defect... OMIM:614429
Ramon Syndrome
Delayed eruption of teeth, Diabetes mellitus, Abnormal dental enamel morphology, Sensorineural he... ORPHA:3019
Meckel Syndrome, Type 11
Occipital encephalocele, Polydactyly OMIM:615397
2Q24 Microdeletion Syndrome
Low-set, posteriorly rotated ears, Camptodactyly of finger, Cleft palate, Abnormal oral frenulum ... ORPHA:1617
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 14
Hand muscle atrophy, Abnormal lower motor neuron morphology, Hand muscle weakness OMIM:607641
Amelogenesis Imperfecta
Abnormality of dental color, Hypomature dental enamel, Enamel hypomineralization, Hypoplasia of t... ORPHA:88661
Hemifacial Atrophy, Progressive
Delayed eruption of teeth, Tongue atrophy, Dental malocclusion, Microtia, Short mandibular rami OMIM:141300
Meckel Syndrome, Type 10
Dilated fourth ventricle, Occipital encephalocele, Ulnar deviation of the hand, Postaxial polydac... OMIM:614175
Gillessen-Kaesbach-Nishimura Syndrome
Omphalocele, Ulnar deviation of the hand, Congenital diaphragmatic hernia, Metaphyseal widening, ... OMIM:263210
Pulmonary Atresia-Intact Ventricular Septum Syndrome
Pulmonary artery atresia, Patent ductus arteriosus, Abnormal tricuspid valve morphology ORPHA:1208
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly
Syndactyly, Ventricular septal defect, Thoracic hypoplasia, Micromelia, Postaxial polydactyly, Hy... OMIM:617895
Apert Syndrome
Delayed eruption of teeth, Mandibular prognathia, Hypoplasia of the maxilla, Esophageal atresia, ... ORPHA:87
Crossed Polysyndactyly
Finger syndactyly, Aplasia/Hypoplasia of the thumb, Abnormality of the philtrum, Postaxial hand p... ORPHA:2935
Hypodontia-Dysplasia Of Nails Syndrome
Delayed eruption of teeth, Abnormal dental morphology, Conical tooth, Abnormality of the dentitio... ORPHA:2228
Robin Sequence-Oligodactyly Syndrome
Glossoptosis, Micrognathia, Cleft palate, Abnormality of the dentition ORPHA:3104
1Q21.1 Microdeletion Syndrome
Cryptorchidism, Hydrocephalus, Sensorineural hearing impairment, Joint hyperflexibility, Agenesis... ORPHA:250989
Renal Tubular Dysgenesis
Tetralogy of Fallot, Pulmonary hypoplasia, Bilateral single transverse palmar creases ORPHA:3033
Robinow Syndrome
Dental crowding, Micrognathia, Orofacial cleft, Fused thoracic vertebrae, Persistence of primary ... ORPHA:97360
Intellectual Developmental Disorder, Autosomal Recessive 68
Hypoplasia of the maxilla, Hydrocephalus, Protruding ear OMIM:618302
Meacham Syndrome
Ventricular septal defect, Congenital diaphragmatic hernia, Situs inversus totalis, Abnormality o... ORPHA:3097
Crouzon Syndrome
Mandibular prognathia, Dental crowding, Sagittal craniosynostosis, Hypoplasia of the maxilla, Hyd... OMIM:123500
Autosomal Dominant Otospondylomegaepiphyseal Dysplasia
Micrognathia, Osteoarthritis, Sensorineural hearing impairment, Cleft palate, Glossoptosis, Long ... ORPHA:166100
Branchial Arch Abnormalities, Choanal Atresia, Athelia, Hearing Loss, And Hypothyroidism Syndrome
Branchial cyst, Micrognathia, Downturned corners of mouth, Severe sensorineural hearing impairmen... OMIM:620186
X-Linked Intellectual Disability, Porteous Type
Mandibular prognathia, Hypoplasia of the maxilla, Cupped ear, Short philtrum, Macrotia ORPHA:93945
Radiohumeral Fusions With Other Skeletal And Craniofacial Anomalies
Occipital encephalocele, Humeroradial synostosis, Arachnodactyly, Oligodactyly OMIM:614416
Meckel Syndrome, Type 5
Occipital encephalocele, Bowing of the long bones, Postaxial hand polydactyly, Anencephaly, Posta... OMIM:611561
Craniotelencephalic Dysplasia
Microphthalmia, Septo-optic dysplasia, Frontal encephalocele, Hydrocephalus ORPHA:1528
Fibular Hemimelia
Anophthalmia, Bowing of the legs, Tibial bowing, Foot oligodactyly, Short tibia, Arthralgia of th... ORPHA:93323
Distal Deletion 13Q
Encephalocele, Aplasia/Hypoplasia of the thumb, Abnormality of the hand, Anencephaly, Abnormal ca... ORPHA:1590
Nager Syndrome
Low-set, posteriorly rotated ears, Joint stiffness, Micrognathia, Hypoplasia of the maxilla, Non-... ORPHA:245
Craniofacial-Deafness-Hand Syndrome
Hypoplasia of the maxilla, Sensorineural hearing impairment, Camptodactyly of finger, Narrow mouth ORPHA:1529
Constricting Bands, Congenital
Encephalocele, Syndactyly, Cleft upper lip, Facial cleft, Cleft palate, Hand polydactyly, Talipes... OMIM:217100
Thanatophoric Dysplasia, Type I
Bowing of the long bones, Small abnormally formed scapulae, Thoracic hypoplasia, Hypoplastic ilia... OMIM:187600
Epidermolysis Bullosa With Diaphragmatic Hernia
Palmoplantar blistering, Congenital diaphragmatic hernia OMIM:226735
Camptosynpolydactyly, Complex
Syndactyly, Polydactyly, Camptodactyly, Cutaneous syndactyly OMIM:607539
Agenesis Of The Corpus Callosum With Peripheral Neuropathy
Hypoplasia of the maxilla, Flexion contracture, High palate, Macrotia, Agenesis of corpus callosu... OMIM:218000
Joubert Syndrome 18
Occipital encephalocele, Bowing of the long bones, Trident pelvis, Ventricular septal defect, Pos... OMIM:614815
Cockayne Syndrome Type 2
Mandibular prognathia, Anophthalmia, Delayed eruption of primary teeth, Hearing impairment, Crypt... ORPHA:90322
Distal 22Q11.2 Microdeletion Syndrome
Thin upper lip vermilion, Branchial fistula, Camptodactyly of finger, High, narrow palate, Pylori... ORPHA:261330
Enlarged Parietal Foramina
Occipital encephalocele, Myelomeningocele, Short clavicles, Abnormal cerebral vein morphology, Br... ORPHA:60015
Craniolenticulosutural Dysplasia
Delayed eruption of teeth, Carious teeth, Hypoplasia of the maxilla, Hypoplasia of teeth, Wide mo... ORPHA:50814
Crouzon Syndrome-Acanthosis Nigricans Syndrome
Hypoplasia of the maxilla, Hydrocephalus, Conductive hearing impairment, Malar flattening, Abnorm... ORPHA:93262
Matthew-Wood Syndrome
Anophthalmia, Congenital diaphragmatic hernia, Abnormal lung morphology, Aplasia/Hypoplasia of th... ORPHA:2470
Angel-Shaped Phalango-Epiphyseal Dysplasia
Hip osteoarthritis, Joint hyperflexibility, Hypodontia, Delayed eruption of teeth ORPHA:63442
Triphalangeal Thumb, Nonopposable
Polydactyly, Triphalangeal thumb OMIM:190600
Esophageal Atresia
Bronchitis, Gastrointestinal dysmotility, Anorectal anomaly, Laryngotracheomalacia, Gastroesophag... ORPHA:1199
Trisomy 13
Median cleft lip, Ventricular septal defect, Anophthalmia, Abnormality of the dentition, High, na... ORPHA:3378
Lung Agenesis, Congenital Heart Defects, And Thumb Anomalies Syndrome
Patent ductus arteriosus, Coarctation of aorta, Bilateral lung agenesis, Abnormal cardiac septum ... OMIM:601612
Helsmoortel-Van Der Aa Syndrome
Decreased response to growth hormone stimulation test, High, narrow palate, Pineal cyst, Oligodon... OMIM:615873
Pulmonary Atresia With Ventricular Septal Defect
Pulmonary artery atresia, Ventricular septal defect OMIM:178370
Arthrogryposis Multiplex Congenita 1, Neurogenic, With Myelin Defect
Hip contracture, Scapular winging, Internally rotated shoulders, Ankle flexion contracture, Flexi... OMIM:617468
Intellectual Developmental Disorder, X-Linked, Syndromic 14
Mandibular prognathia, Hypoplasia of the maxilla, High palate OMIM:300676
Heart Defects, Congenital, And Other Congenital Anomalies
Congenital diaphragmatic hernia, Biliary atresia, Atrial septal defect, Pancreatic hypoplasia, Hy... OMIM:600001
Lissencephaly 8
Microphthalmia, Occipital encephalocele, Talipes equinovarus, Ventriculomegaly OMIM:617255
Axenfeld-Rieger Syndrome, Type 2
Mandibular prognathia, Anal stenosis, Hypoplasia of the maxilla, Cryptorchidism, Hydrocephalus, E... OMIM:601499
Epidermolysis Bullosa Simplex With Anodontia/Hypodontia
Delayed eruption of teeth, Mandibular prognathia, Abnormal dental enamel morphology, Tooth agenes... ORPHA:2325
Gingival Fibromatosis-Hypertrichosis Syndrome
Delayed eruption of teeth, Gingival fibromatosis, Gingival overgrowth, Abnormality of the dentition ORPHA:2026
Microphthalmia, Isolated, With Coloboma 10
Microphthalmia, Anophthalmia, Iris coloboma, Chorioretinal coloboma OMIM:616428
Infantile Myofibromatosis
Neoplasm of the pancreas, Intestinal obstruction, Tracheoesophageal fistula, Neoplasm of the lung... ORPHA:2591
Dentinogenesis Imperfecta-Short Stature-Hearing Loss-Intellectual Disability Syndrome
Delayed eruption of teeth, Sensorineural hearing impairment, Osteoporosis, Short philtrum, Dentin... ORPHA:71267
Short-Rib Thoracic Dysplasia 8 With Or Without Polydactyly
Syndactyly, Ventricular septal defect, Postaxial polydactyly, Lateral clavicle hook, Preaxial pol... OMIM:615503
Otopalatodigital Syndrome Type 2
Preaxial polydactyly, Narrow chest, Short palm, Synostosis of carpal bones, Encephalocele, Short ... ORPHA:90652
Frontal Encephalocele
Encephalocele, Hydrocephalus, Spina bifida ORPHA:1931
Alg3-Cdg
Abnormality of the gastrointestinal tract, Lipodystrophy, Metaphyseal chondrodysplasia, Abnormal ... ORPHA:79321
Oculodentodigital Dysplasia, Autosomal Recessive
Delayed eruption of teeth, Dental crowding, Micrognathia, Hypoplasia of the maxilla, Dental maloc... OMIM:257850
Heart Defects-Limb Shortening Syndrome
Atrial septal defect, Ventricular septal defect, Mesomelic/rhizomelic limb shortening, Abnormal r... ORPHA:1354
Meckel Syndrome, Type 3
Occipital encephalocele, Postaxial hand polydactyly, Hydrocephalus, Postaxial foot polydactyly, P... OMIM:607361
Splenogonadal Fusion-Limb Defects-Micrognathia Syndrome
Inguinal hernia, Congenital diaphragmatic hernia, Abnormal lung lobation, Abnormal femur morpholo... ORPHA:2063
Bowen-Conradi Syndrome
Camptodactyly of finger, Rocker bottom foot, Abnormal lung lobation, Clinodactyly of the 5th fing... ORPHA:1270
Holt-Oram Syndrome
Abnormal clavicle morphology, Triphalangeal thumb, Atrial septal defect, Phocomelia, Atrioventric... ORPHA:392
Cohen Syndrome
Decreased response to growth hormone stimulation test, Micrognathia, Hypoplasia of the maxilla, H... OMIM:216550
Frontofacionasal Dysplasia
Encephalocele, Non-midline cleft lip, Facial cleft, Cleft palate, Microphthalmia, Iris coloboma ORPHA:1791
Primary Pulmonary Hypoplasia
Recurrent respiratory infections, Dextrocardia, Abnormal hemidiaphragm morphology, Secundum atria... ORPHA:2257
Moyamoya Disease 4 With Short Stature, Hypergonadotropic Hypogonadism, And Facial Dysmorphism
Cerebral hemorrhage, Abnormal hand morphology, Dilated cardiomyopathy, Small hand, Abnormal left ... OMIM:300845
Cerebrooculofacioskeletal Syndrome 1
Delayed eruption of teeth, Micrognathia, Carious teeth, Cryptorchidism, Sensorineural hearing imp... OMIM:214150
Hereditary Acrokeratotic Poikiloderma
Camptodactyly of finger, Premature loss of primary teeth, Abnormality of the dentition, Open bite... ORPHA:2907
Congenitally Uncorrected Transposition Of The Great Arteries
Levotransposition of the great arteries, Hepatomegaly, Abnormal coronary artery morphology, Ventr... ORPHA:860
Spondylometaphyseal Dysplasia, Type A4
Brachydactyly, Coxa valga, Metaphyseal sclerosis, Enlargement of the costochondral junction, Meta... OMIM:609052
Hydrops Fetalis, Nonimmune, With Gracile Bones And Dysmorphism
Pulmonary hypoplasia, Upper limb undergrowth, Thoracic hypoplasia OMIM:613124
Verheij Syndrome
Branchial cyst, Truncus arteriosus, Optic nerve hypoplasia, Ventricular septal defect, Hip disloc... OMIM:615583
Microphthalmia-Ankyloblepharon-Intellectual Disability Syndrome
Microphthalmia, Anophthalmia ORPHA:85275
Cardiac-Urogenital Syndrome
Congenital diaphragmatic hernia, Atrial septal defect, Scimitar anomaly, Mesocardia, Accessory sp... OMIM:618280
Fallot Complex With Severe Mental And Growth Retardation
Double outlet right ventricle, Tetralogy of Fallot, Ventricular septal defect, Pulmonic stenosis OMIM:601127
Telo2-Related Intellectual Disability-Neurodevelopmental Disorder
Joint laxity, Hip contracture, Microretrognathia, Cleft palate, Knee flexion contracture, Downtur... ORPHA:488642
Trisomy 8Q
Low-set, posteriorly rotated ears, Camptodactyly of finger, Joint stiffness, Micrognathia, Crypto... ORPHA:1752
Multicentric Carpotarsal Osteolysis Syndrome
Osteopenia, Micrognathia, Hypoplasia of the maxilla, Osteolysis involving tarsal bones, Metatarsa... OMIM:166300
Terminal Osseous Dysplasia
Multiple joint contractures, Camptodactyly of finger, Accessory oral frenulum, Abnormal hand bone... OMIM:300244
Chime Syndrome
Ventricular septal defect, Aplastic clavicle, Aplasia/Hypoplasia of the phalanges of the hand, Hi... ORPHA:3474
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 2
Postaxial hand polydactyly, Hydrocephalus, Ventriculomegaly OMIM:615937
Platyspondylic Dysplasia, Torrance Type
Bowing of the long bones, Hypoplastic scapulae, Micromelia, Short thorax, Abnormal carpal morphol... ORPHA:85166
Absence Of The Pulmonary Artery
Recurrent respiratory infections, Abnormal coronary artery morphology, Abnormal hemidiaphragm mor... ORPHA:980
Congenital Arthrogryposis With Anterior Horn Cell Disease
Abnormal anterior horn cell morphology, Rocker bottom foot, Single transverse palmar crease, Pauc... OMIM:611890
Intellectual Developmental Disorder With Abnormal Behavior, Microcephaly, And Short Stature
Ventriculomegaly, Dental crowding, Persistence of primary teeth, Micrognathia, Sensorineural hear... OMIM:618342
Focal Dermal Hypoplasia
Acute hepatic failure, Abnormal palmar dermatoglyphics, Congenital diaphragmatic hernia, Hypoplas... ORPHA:2092
Coffin-Lowry Syndrome
Delayed eruption of teeth, Craniofacial hyperostosis, Death in early adulthood, Abnormal dental m... ORPHA:192
Adams-Oliver Syndrome 6
Syndactyly, Ventricular septal defect, Foot oligodactyly, Truncus arteriosus, Brachydactyly OMIM:616589
Osteogenesis Imperfecta, Type Xii
Delayed eruption of teeth, Hyperextensibility of the finger joints, Recurrent fractures, Microgna... OMIM:613849
Fryns Syndrome
Omphalocele, Aganglionic megacolon, Intestinal malrotation, Congenital diaphragmatic hernia, Abno... ORPHA:2059
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy
Occipital encephalocele, Proximal femoral metaphyseal irregularity, Early ossification of capital... ORPHA:397715
Frontonasal Dysplasia-Bifid Nose-Upper Limb Anomalies Syndrome
Atrial septal defect, Abnormality of the hand, Frontal encephalocele, Abnormality of the upper li... ORPHA:521308
Trisomy 1Q
Toe syndactyly, Arachnodactyly, Camptodactyly of finger, Ventricular septal defect, Anophthalmia,... ORPHA:261344
Intellectual Disability-Obesity-Prognathism-Eye And Skin Anomalies Syndrome
Crowded maxillary incisors, Hypoplasia of the maxilla, Mandibular prognathia ORPHA:397973
Cerebrooculonasal Syndrome
Encephalocele, Ventriculomegaly, Anophthalmia, Posteriorly rotated ears, Optic nerve hypoplasia, ... OMIM:605627
Acrodysostosis 1 With Or Without Hormone Resistance
Delayed eruption of teeth, Mandibular prognathia, Hypoplasia of the maxilla, Cryptorchidism, Hydr... OMIM:101800
Auriculocondylar Syndrome
Abnormality of the temporomandibular joint, Dental crowding, Cleft helix, Micrognathia, Glossopto... ORPHA:137888
Diaphragmatic Hernia 4, With Cardiovascular Defects
Finger syndactyly, Hepatomegaly, Ventricular septal defect, Aortopulmonary collateral arteries, O... OMIM:620025
Pycr2-Related Microcephaly-Progressive Leukoencephalopathy
Joint hypermobility, Hypoplasia of the maxilla, Flexion contracture, Hyperextensibility at wrists... ORPHA:481152
Andersen Cardiodysrhythmic Periodic Paralysis
Joint laxity, Thin upper lip vermilion, Hyperthyroidism, Dental crowding, Persistence of primary ... OMIM:170390
Adams-Oliver Syndrome
Encephalocele, Finger syndactyly, Brachydactyly, Abnormal pulmonary valve morphology, Absent toe,... ORPHA:974
Feingold Syndrome 1
Accessory spleen, Ventricular septal defect, Tricuspid stenosis, Jejunal atresia, Asplenia, Short... OMIM:164280
Charcot-Marie-Tooth syndrome type 1A (CMT1A)
Abnormal motor neuron morphology DECIPHER:29
Trichothiodystrophy 2, Photosensitive
Agenesis of maxillary lateral incisor OMIM:616390
Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities
Rieger anomaly, Abnormal auditory evoked potentials, Hypoplasia of the maxilla, Hydrocephalus, Se... OMIM:109120
Orofaciodigital Syndrome Type 5
Median cleft lip, Abnormality of the philtrum, Cleft soft palate, Accessory oral frenulum, Agangl... ORPHA:2919
Platyspondylic Lethal Skeletal Dysplasia, Torrance Type
Radial bowing, Rhizomelia, Thoracic hypoplasia, Dumbbell-shaped long bone, Micromelia, Hypoplasti... OMIM:151210
Aarskog-Scott Syndrome
Joint laxity, Hyperextensibility of the finger joints, Elevated circulating luteinizing hormone l... OMIM:305400
Intellectual Developmental Disorder, X-Linked, Syndromic, Lujan-Fryns Type
Joint laxity, Hyperextensibility of the finger joints, Thin upper lip vermilion, Dental crowding,... OMIM:309520
Structural Heart Defects And Renal Anomalies Syndrome
Overlapping toe, Ventricular septal defect, Partial anomalous pulmonary venous return, Right aort... OMIM:617478
8P23.1 Microdeletion Syndrome
Broad hallux phalanx, Proximal placement of thumb, Tapered finger, Congenital diaphragmatic herni... ORPHA:251071
Axenfeld-Rieger Syndrome
Anal stenosis, Hypoplasia of the maxilla, Aplasia/Hypoplasia of the iris, Everted lower lip vermi... ORPHA:782
Carpenter Syndrome 1
Abnormal pinna morphology, Sagittal craniosynostosis, Persistence of primary teeth, Micrognathia,... OMIM:201000
Rhombencephalosynapsis
Finger syndactyly, Septo-optic dysplasia, Aganglionic megacolon, Esophageal atresia, Tracheoesoph... ORPHA:59315
Amish Lethal Microcephaly
Death in infancy, Cleft soft palate, Spina bifida, Micrognathia, Limitation of joint mobility, Os... ORPHA:99742
Spinal Muscular Atrophy With Congenital Bone Fractures 1
Spinal muscular atrophy, Secundum atrial septal defect, Patent ductus arteriosus, Flexion contrac... OMIM:616866
Tonne-Kalscheuer Syndrome
Congenital diaphragmatic hernia, Velopharyngeal insufficiency, Abnormal heart morphology, Pulmona... OMIM:300978
Pfeiffer Syndrome
Mandibular prognathia, Dental crowding, Hypoplasia of the maxilla, Hydrocephalus, Humeroradial sy... OMIM:101600
Nephrogenic Diabetes Insipidus-Intracranial Calcification-Short Stature-Facial Dysmorphism Syndrome
Micrognathia, Carious teeth, Nephrogenic diabetes insipidus, Supernumerary tooth, Limitation of j... ORPHA:3145
Short-Rib Thoracic Dysplasia 17 With Or Without Polydactyly
Lateral clavicle hook, Postaxial hand polydactyly, Postaxial foot polydactyly, Trident acetabulum... OMIM:617405
Acrodysostosis
Mandibular prognathia, Delayed eruption of teeth, Open bite, Hypoplasia of the maxilla, Cryptorch... ORPHA:950
46,Xx Sex Reversal With Dysgenesis Of Kidneys, Adrenals, And Lungs
Ventricular septal defect, Congenital diaphragmatic hernia, Pulmonary artery stenosis, Cleft pala... OMIM:611812
Meckel Syndrome, Type 9
Limb undergrowth, Occipital encephalocele, Talipes equinovarus OMIM:614209
Pseudotrisomy 13 Syndrome
11 pairs of ribs, Encephalocele, Ventricular septal defect, Dextrocardia, Complete atrioventricul... OMIM:264480
Atelosteogenesis, Type I
Short metatarsal, Tibial bowing, Narrow chest, Encephalocele, Short metacarpal, Radial bowing, Cl... OMIM:108720
Frontonasal Dysplasia 3
Microphthalmia, Facial cleft, Cleft palate OMIM:613456
Carabelli Anomaly Of Maxillary Molar Teeth
Shovel-shaped maxillary central incisors, Abnormality of molar, Abnormality of the dentition OMIM:114700
Hereditary Liability to Pressure Palsies (HNPP)
Abnormal motor neuron morphology DECIPHER:31
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Intermediate Form
Esophageal stenosis, Anal fissure, Carious teeth, Esophageal stricture, Flexion contracture, Narr... ORPHA:89842
Cranioacrofacial Syndrome
Abnormal hand morphology, Dupuytren contracture, Ventricular septal defect, Pulmonic stenosis OMIM:122850
Combined Oxidative Phosphorylation Deficiency 8
Increased variability in muscle fiber diameter, Hypertrophic cardiomyopathy, Pulmonary hypoplasia... OMIM:614096
Short-Rib Thoracic Dysplasia 11 With Or Without Polydactyly
Recurrent respiratory infections, Postaxial polydactyly, Lateral clavicle hook, Bell-shaped thora... OMIM:615633
Cleidocranial Dysplasia 2
Osteopenia, Delayed eruption of primary teeth, Hypoplasia of the maxilla, Supernumerary tooth, De... OMIM:620099
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1
Skeletal muscle atrophy, Ventricular septal defect, Postaxial polydactyly, Abnormally large globe... OMIM:603387
Cowden Syndrome 5
Colonic diverticula, Hyperthyroidism, Micrognathia, Hypoplasia of the maxilla, Goiter, Thyroiditi... OMIM:615108
Splenogonadal Fusion With Limb Defects And Micrognathia
Crowded maxillary incisors, Multiple unerupted teeth, Stillbirth, Micrognathia OMIM:183300
Primary Lateral Sclerosis, Adult, 1
Abnormal upper motor neuron morphology OMIM:611637
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 3
Mandibular prognathia, High, narrow palate, Deep philtrum, Downturned corners of mouth, Short phi... OMIM:619950
Multiple Synostoses Syndrome 3
Broad hallux, Limited interphalangeal movement, Hallux varus, Humeroradial synostosis, Cleft pala... OMIM:612961
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome
Thoracic scoliosis, Bicuspid aortic valve, Thoracic kyphosis, Short palm, Clinodactyly of the 5th... ORPHA:508498
Short Stature, Dauber-Argente Type
Osteopenia, Fasting hyperinsulinemia, Delayed eruption of teeth, Reduced bone mineral density OMIM:619489
Microphthalmia, Isolated 1
Microphthalmia, Anophthalmia OMIM:251600
Rapp-Hodgkin Syndrome
Supernumerary nipple, Cleft upper lip, Conical tooth, Carious teeth, Velopharyngeal insufficiency... OMIM:129400
Kagami-Ogata Syndrome
Omphalocele, Atrial septal defect, Inguinal hernia, Hepatomegaly, Ventricular septal defect, Dias... OMIM:608149
Martinez-Frias Syndrome
Intestinal hypoplasia, Hypoplasia of the gallbladder, Jejunal atresia, Intestinal malrotation, Ex... OMIM:601346
Dysostosis, Stanescu Type
Increased bone mineral density, Abnormal dental enamel morphology, Abnormality of the dentition, ... ORPHA:1798
Intellectual Developmental Disorder, Autosomal Dominant 29
Thin upper lip vermilion, Dental crowding, Hearing impairment, Cryptorchidism, Narrow palate, Hig... OMIM:616078
Multiple Epiphyseal Dysplasia, Al-Gazali Type
Delayed epiphyseal ossification, Genu valgum, Cutaneous syndactyly, Molar tooth sign on MRI, Clin... ORPHA:166024
Hypogonadism With Low-Grade Mental Deficiency And Microcephaly
2-4 toe syndactyly, Syndactyly OMIM:241000
Saethre-Chotzen Syndrome
Proximal radio-ulnar synostosis, Craniosynostosis, Open bite, Hypoplasia of the maxilla, Prominen... ORPHA:794
Achondrogenesis Type 2
Micromelia, Hypoplastic ilia, Delayed proximal femoral epiphyseal ossification, Short long bone, ... ORPHA:93296
Martsolf Syndrome 1
Joint laxity, Enlarged sylvian cistern, Posteriorly rotated ears, Hypogonadotropic hypogonadism, ... OMIM:212720
Thakker-Donnai Syndrome
Ventricular septal defect, Congenital diaphragmatic hernia, Tracheoesophageal fistula, Rectovagin... ORPHA:1780
Distal Xq28 Microduplication Syndrome
Short lingual frenulum, Dental crowding, Hypoplasia of the maxilla, Thick lower lip vermilion, Mi... ORPHA:293939
Emanuel Syndrome
Recurrent respiratory infections, Ventriculomegaly, Congenital hip dislocation, Ventricular septa... OMIM:609029
Congenital Myopathy 1B, Autosomal Recessive
Recurrent respiratory infections, Skeletal muscle atrophy, Facial palsy, Centrally nucleated skel... OMIM:255320
Craniofrontonasal Dysplasia
Finger syndactyly, Broad hallux phalanx, Sandal gap, Camptodactyly of finger, Down-sloping should... ORPHA:1520
Short-Rib Thoracic Dysplasia 12
Bowing of the legs, Thoracic dysplasia, Narrow chest, Holoprosencephaly, Short palm, Patent foram... OMIM:269860
Growth Delay-Hydrocephaly-Lung Hypoplasia Syndrome
Bowing of the long bones, Radial bowing, Aqueductal stenosis, Abnormal rib morphology, Abnormal f... ORPHA:3035
Melkersson-Rosenthal Syndrome
Furrowed tongue OMIM:155900
Intellectual Developmental Disorder, Autosomal Dominant 70
Mandibular prognathia, Optic nerve hypoplasia, Micrognathia, Hypoplasia of the maxilla, Hydroceph... OMIM:620157
Fetal Akinesia Deformation Sequence 4
Posteriorly rotated ears, Micrognathia, Cryptorchidism, High palate, Prenatal death, Low-set ears... OMIM:618393
Metatropic Dysplasia
Camptodactyly of finger, Micromelia, Hydrocephalus, Abnormal rib morphology, Aplasia/Hypoplasia o... ORPHA:2635
Chilton-Okur-Chung Neurodevelopmental Syndrome
Mandibular prognathia, Thin upper lip vermilion, Communicating hydrocephalus, Septo-optic dysplas... OMIM:619841
Cleft Palate, Deafness, And Oligodontia
No permanent dentition, Oligodontia of primary teeth, Bilateral conductive hearing impairment, Cl... OMIM:216300
Adams-Oliver Syndrome 4
Ventricular septal defect, Short toe, Absent middle phalanx of the 3rd toe, Aplasia of the middle... OMIM:615297
Lethal Congenital Contracture Syndrome 10
Omphalocele, Torticollis, Overriding aorta, Ventricular septal defect, Cardiomegaly, Increased va... OMIM:617022
Whistling Face Syndrome, Recessive Form
Shoulder flexion contracture, Micrognathia, Narrow mouth, Whistling appearance, Trismus, Elbow fl... OMIM:277720
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type
Multiple rib fractures, Ventriculomegaly, Short femur, Fractured radius, Ventricular septal defec... OMIM:616897
Orofacial Cleft 13
Cleft soft palate, Micrognathia, Oligodontia, Malar flattening, Retrognathia OMIM:613857
Vacterl With Hydrocephalus
Inguinal hernia, Anophthalmia, Femoral hernia, Esophageal atresia, Hypoplasia of the radius, Hip ... ORPHA:3412
Acromelic Frontonasal Dysostosis
Encephalocele, Syndactyly, Remnants of the hyaloid vascular system, Optic nerve hypoplasia, Cleft... OMIM:603671
Arthrogryposis, Distal, Type 1C
Hip contracture, Pursed lips, Shoulder flexion contracture, Rocker bottom foot, Camptodactyly of ... OMIM:619110
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 10
Neural tube defect OMIM:615041
Hutchinson-Gilford Progeria Syndrome
Dental crowding, Short lingual frenulum, Micrognathia, Osteoarthritis, Reduced bone mineral densi... ORPHA:740
Keipert Syndrome
Hypoplasia of the maxilla, Sensorineural hearing impairment, Tented upper lip vermilion, Exaggera... ORPHA:2662
Microphthalmia With Brain And Digit Anomalies
Finger syndactyly, Anophthalmia, Proximal placement of thumb, Postaxial foot polydactyly, High pa... ORPHA:139471
Solitary Median Maxillary Central Incisor
Anophthalmia, Decreased response to growth hormone stimulation test, Cleft upper lip, Prominent m... OMIM:147250
Unilateral Ocular Duplication
Encephalocele, Median cleft lip, Polyhydramnios, Midline facial cleft, Cleft palate, Iris coloboma ORPHA:3374
Hydrolethalus Syndrome 2
Postaxial hand polydactyly, Hydrocephalus, Anencephaly, Postaxial foot polydactyly, Molar tooth s... OMIM:614120
Orofaciodigital Syndrome Xix
Underfolded helix, Cleft soft palate, Accessory oral frenulum, Carious teeth, Cupped ear, Additio... OMIM:620107
Intellectual Developmental Disorder, X-Linked, Syndromic, Claes-Jensen Type
Mandibular prognathia, Thin upper lip vermilion, Micrognathia, Diastema, Hypoplasia of the maxill... OMIM:300534
Congenital Heart Defects, Multiple Types, 9
Mitral atresia, Aortopulmonary collateral arteries, Pectus excavatum, Arteria lusoria, Double out... OMIM:620294
Skraban-Deardorff Syndrome
Right aortic arch, Ventricular septal defect, Cleft palate OMIM:617616
Fanconi Anemia
Abnormal femur morphology, Abnormality of the liver, High palate, Triphalangeal thumb, Atrial sep... ORPHA:84
Cowden Syndrome 6
Colonic diverticula, Hyperthyroidism, Micrognathia, Hypoplasia of the maxilla, Goiter, Thyroiditi... OMIM:615109
Congenital Heart Defects And Skeletal Malformations Syndrome
Atrial septal defect, Arachnodactyly, Repeated pneumothoraces, Sandal gap, Ventricular septal def... OMIM:617602
Cardioacrofacial Dysplasia 1
Accessory oral frenulum, Conical tooth, Diastema, Hypoplasia of the maxilla, Short philtrum OMIM:619142
Hereditary Mucoepithelial Dysplasia
Recurrent respiratory infections, Anorectal anomaly, Tracheoesophageal fistula, Furrowed tongue, ... ORPHA:1839
Dyssegmental Dysplasia, Silverman-Handmaker Type
Occipital encephalocele, Bowing of the long bones, Micromelia, Short long bone, Talipes equinovar... OMIM:224410
Early-Onset Epileptic Encephalopathy-Cortical Blindness-Intellectual Disability-Facial Dysmorphism Syndrome
Anophthalmia, Abnormal spaced incisors, Prominent ear helix, Large earlobe, Thick vermilion borde... ORPHA:411986
Emanuel Syndrome
Delayed eruption of teeth, Recurrent respiratory infections, Ventriculomegaly, Congenital hip dis... ORPHA:96170
Pulmonary Hypoplasia, Primary
Pulmonary hypoplasia OMIM:265430
Fadd-Related Immunodeficiency
Pulmonary artery atresia, Ventricular septal defect, Hepatic fibrosis, Decreased liver function ORPHA:306550
Intellectual Disability, Birk-Barel Type
Tented upper lip vermilion, Foot joint contracture, Micrognathia, High, narrow palate, Incisor ma... ORPHA:166108
Auriculocondylar Syndrome 3
Micrognathia, Question mark ear, Glossoptosis, Bilateral conductive hearing impairment, Stenosis ... OMIM:615706
Peroxisome Biogenesis Disorder 8A (Zellweger)
Epiphyseal stippling, Glossoptosis, Death in infancy OMIM:614876
Incisors, Lower Central, Absence Of
Agenesis of mandibular central incisor OMIM:147330
Central Incisors, Absence Of
Agenesis of central incisor OMIM:302400
Anaplastic Thyroid Carcinoma
Laryngotracheal stenosis, Tracheoesophageal fistula, Abnormal skeletal muscle morphology, Neoplas... ORPHA:142
Bardet-Biedl Syndrome 19
Ventricular septal defect, Mesoaxial hand polydactyly, Postaxial polydactyly, Partial atrioventri... OMIM:615996
Cohen Syndrome
Macrodontia, Aplasia/Hypoplasia of the tongue, Abnormality of the dentition, Micrognathia, High, ... ORPHA:193
Poland Syndrome
Aplasia/Hypoplasia of the thumb, Aplasia of the pectoralis major muscle, Pectus carinatum, Abnorm... ORPHA:2911
X-Linked Hypohidrotic Ectodermal Dysplasia
Delayed eruption of teeth, Everted upper lip vermilion, Everted lower lip vermilion, Type I diabe... ORPHA:181
Split-Hand/Foot Malformation 1
Syndactyly, Broad hallux, Split hand, Hand oligodactyly, Cleft palate, Split foot, Foot oligodact... OMIM:183600
Frank-Ter Haar Syndrome
Delayed eruption of teeth, Mandibular prognathia, Camptodactyly of finger, Joint stiffness, Osteo... ORPHA:137834
Robin Sequence With Cleft Mandible And Limb Anomalies
Microretrognathia, Micrognathia, Agenesis of mandibular central incisor, 4-5 metacarpal synostosi... OMIM:268305
Intellectual Developmental Disorder, Autosomal Recessive 33
Syndactyly, Short toe OMIM:614341
Jawad Syndrome
Hallux valgus, Thoracic scoliosis, Single interphalangeal crease of fifth finger, Postaxial polyd... OMIM:251255
Atelosteogenesis Type Ii
Micromelia, Narrow chest, Short phalanx of finger, Broad metacarpals, Ulnar deviation of the hand... ORPHA:56304
Retinitis Pigmentosa 89
Bicuspid aortic valve, Postaxial polydactyly, Micronodular cirrhosis, Esophageal varix, Hepatospl... OMIM:618955
Velocardiofacial Syndrome
Inguinal hernia, Ventricular septal defect, Abnormality of the hand, Velopharyngeal insufficiency... OMIM:192430
Simpson-Golabi-Behmel Syndrome, Type 2
Recurrent respiratory infections, Postaxial hand polydactyly, Recurrent upper respiratory tract i... OMIM:300209
Gillespie Syndrome
Hypoplasia of the iris, Truncus arteriosus, Aniridia, Ventriculomegaly OMIM:206700
Cobblestone Lissencephaly Without Muscular Or Ocular Involvement
Occipital encephalocele, Hydrocephalus ORPHA:352682
Joubert Syndrome 7
Encephalocele, Postaxial hand polydactyly, Postaxial polydactyly, Genu valgum OMIM:611560
Craniotelencephalic Dysplasia
Microphthalmia, Frontal encephalocele, Optic nerve hypoplasia OMIM:218670
Cerebrooculofacioskeletal Syndrome 3
Talipes equinovarus, Microphthalmia, Rocker bottom foot, Edema OMIM:616570
Cerebrofacioarticular Syndrome
Osteopenia, Irregular dentition, Anal stenosis, Micrognathia, Hypoplasia of the maxilla, Narrow m... ORPHA:314679
Aorta Coarctation
Pseudocoarctation of the aorta, Bicuspid aortic valve, Cardiomegaly, Patent ductus arteriosus, Hy... ORPHA:1457
Polydactyly, Postaxial, Type A5
Syndactyly, Postaxial hand polydactyly, Cutaneous finger syndactyly, Metacarpal synostosis OMIM:263450
Neurodevelopmental Disorder With Central Hypotonia And Dysmorphic Facies
Delayed eruption of teeth, Hyperextensibility of the finger joints, Cryptorchidism, Thick lower l... OMIM:619797
Neurogenic Thoracic Outlet Syndrome
Abnormal rib morphology ORPHA:100073
Intellectual Developmental Disorder, Autosomal Dominant 21
Ventriculomegaly, Posteriorly rotated ears, Narrow mouth, Cryptorchidism, Cleft palate, Thin verm... OMIM:615502
Hemangiomas, Cavernous, Of Face And Supraumbilical Midline Raphe
Right aortic arch, Bifid sternum, Coarctation of aorta OMIM:140850
Severe Microbrachycephaly-Intellectual Disability-Athetoid Cerebral Palsy Syndrome
Camptodactyly of finger, Lip pit, Tapered finger, Facial cleft, Hypodontia, Microphthalmia, Iris ... ORPHA:1236
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate
Selective tooth agenesis, Supernumerary nipple, Cleft upper lip, Conical tooth, Hypoplasia of the... OMIM:106260
Coffin-Siris Syndrome 3
Joint laxity, Cleft palate, Wide mouth, Macroglossia, Delayed eruption of permanent teeth, Thick ... OMIM:614608
Van Maldergem Syndrome 1
Osteopenia, Irregular dentition, Joint laxity, Tented upper lip vermilion, Micrognathia, Hypoplas... OMIM:601390
Radio-Ulnar Synostosis-Amegakaryocytic Thrombocytopenia Syndrome
Clinodactyly of the 5th finger, Finger syndactyly, Radioulnar synostosis, Hip dysplasia ORPHA:71289
Septopreoptic Holoprosencephaly
Abnormal rib morphology, Ethmoidal encephalocele, Coarctation of aorta ORPHA:280195
Renal Hypodysplasia/Aplasia 4
Pulmonary hypoplasia OMIM:619887
Venous Malformations, Multiple Cutaneous And Mucosal
Intestinal bleeding, Venous malformation OMIM:600195
Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly
Syndactyly, Brachydactyly, Hypoplastic scapulae, Bowing of the long bones, Micromelia, Postaxial ... OMIM:614091
Renal Hypodysplasia/Aplasia 2
Pulmonary hypoplasia OMIM:615721
Microphthalmia, Isolated 4
Microphthalmia, Coloboma, Postaxial polydactyly OMIM:613094
Microphthalmia With Limb Anomalies
Micrognathia, Hypoplasia of the maxilla, Camptodactyly of 2nd-5th fingers, High palate, Synostosi... ORPHA:1106
48,Xxyy Syndrome
Delayed eruption of teeth, Broad jaw, Hypergonadotropic hypogonadism, Abnormal dental enamel morp... ORPHA:10
Acrocardiofacial Syndrome
Hallux valgus, Finger syndactyly, Toe syndactyly, Mitral stenosis, Camptodactyly of finger, Ventr... ORPHA:2008
Intellectual Developmental Disorder, Autosomal Recessive 69
Ventriculomegaly, Hyperplasia of the maxilla OMIM:618383
15Q24 Microdeletion Syndrome
Proximal placement of thumb, Congenital diaphragmatic hernia, Abnormal thumb morphology, Abnormal... ORPHA:94065
Hereditary Continuous Muscle Fiber Activity
Congenital diaphragmatic hernia, Type 1 muscle fiber predominance ORPHA:972
Meckel Syndrome 14
Syndactyly, Bowing of the long bones, Occipital encephalocele, Postaxial polydactyly, Postaxial h... OMIM:619879
Parietal Foramina 3
Encephalocele OMIM:609566
Lipodystrophy, Generalized, With Mental Retardation, Deafness, Short Stature, And Slender Bones
Osteopenia, Hypoplasia of the maxilla, Sensorineural hearing impairment OMIM:608154
Joubert Syndrome 14
Encephalocele, Ventricular septal defect, Postaxial polydactyly, Hydrocephalus, Meningocele, Intr... OMIM:614424
Intellectual Developmental Disorder With Speech Delay And Dysmorphic Facies
Exaggerated cupid's bow, Posteriorly rotated ears, Wide mouth, Delayed eruption of permanent teet... OMIM:618506
Pancreatic Hypoplasia-Diabetes-Congenital Heart Disease Syndrome
Congenital diaphragmatic hernia, Biliary atresia, Aplasia/Hypoplasia of the gallbladder, Hernia, ... ORPHA:2255
2Q37 Microdeletion Syndrome
Finger syndactyly, Short metacarpal, Toe syndactyly, Brachydactyly, Congenital diaphragmatic hern... ORPHA:1001
Impaired Intellectual Development, Anterior Maxillary Protrusion, And Strabismus
Joint laxity, Dental crowding, Open bite, Hyperplasia of the maxilla OMIM:613671
Acropectoral Syndrome
Pectus excavatum, Partial duplication of thumb phalanx, Preaxial polydactyly, Pectus carinatum, T... OMIM:605967
Bardet-Biedl Syndrome 5
Syndactyly, Polydactyly, Brachydactyly OMIM:615983
Shprintzen-Goldberg Craniosynostosis Syndrome
Osteopenia, Joint laxity, Posteriorly rotated ears, Abnormal pinna morphology, Craniosynostosis, ... OMIM:182212
Arterial Tortuosity Syndrome
Ventricular hypertrophy, Inguinal hernia, Carotid artery dissection, Arachnodactyly, Congenital d... OMIM:208050
Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency
Thin upper lip vermilion, Intestinal malrotation, Micrognathia, Cryptorchidism, Deep philtrum, Cl... ORPHA:404440
Marshall Syndrome
Abnormality of the dentition, Micrognathia, Hypoplasia of the maxilla, Osteoarthritis, Thick lowe... ORPHA:560
Wahab Syndrome
Syndactyly, Short metacarpal, Short thumb, Short foot, Short palm, Clinodactyly, Camptodactyly, A... OMIM:615170
Syndactyly Type 5
Camptodactyly of finger, 2-3 toe syndactyly, Ulnar deviation of finger, Metacarpal synostosis, Cl... ORPHA:93406
Heterotaxy, Visceral, 1, X-Linked
Congenital hip dislocation, Cardiomegaly, Asplenia, Biliary atresia, Dextrotransposition of the g... OMIM:306955
Autosomal Dominant Coarctation Of Aorta
Aortic arch aneurysm, Ventricular septal defect, Patent ductus arteriosus, Abnormal aortic arch m... ORPHA:1455
Arthrogryposis, Perthes Disease, And Upward Gaze Palsy
Ventricular septal defect, Overlapping toe, Avascular necrosis of the capital femoral epiphysis, ... OMIM:614262
Jansen-De Vries Syndrome
Bicuspid aortic valve, Ventricular septal defect, Central diaphragmatic hernia, Small hand, Short... OMIM:617450
Andersen-Tawil Syndrome
Joint laxity, Thin upper lip vermilion, Abnormality of dental color, Dental crowding, Persistence... ORPHA:37553
Thoracoabdominal Syndrome
Omphalocele, Ventral hernia, Congenital diaphragmatic hernia, Patent ductus arteriosus, Cleft pal... OMIM:313850
Chand Syndrome
Cleft palate, Agenesis of permanent teeth, Abnormal oral frenulum morphology, Agenesis of maxilla... ORPHA:1401
Santos Syndrome
Syndactyly, Postaxial polydactyly, Metatarsus adductus, Preaxial polydactyly, Genu valgum, Polyda... OMIM:613005
Syndactyly Type 3
Finger syndactyly, Short toe, Camptodactyly of finger ORPHA:93404
Renal-Hepatic-Pancreatic Dysplasia 1
Asplenia, Hepatic fibrosis, Atrial septal defect, Hepatomegaly, Portal hypertension, Malformation... OMIM:208540
Acropectoral Syndrome
Preaxial hand polydactyly, Finger syndactyly ORPHA:85203
Pde4D Haploinsufficiency Syndrome
Joint laxity, Thin upper lip vermilion, Mandibular prognathia, Posteriorly rotated ears, Abnormal... ORPHA:439822
Ataxia, Intention Tremor, And Hypotonia Syndrome, Childhood-Onset
Ankyloglossia OMIM:619352
Intellectual Disability-Myopathy-Short Stature-Endocrine Defect Syndrome
Skeletal muscle atrophy, Facial palsy, Abnormal muscle fiber morphology, Tracheoesophageal fistul... ORPHA:3068
Joubert Syndrome 36
Molar tooth sign on MRI, Mesoaxial hand polydactyly OMIM:618763
Carpenter Syndrome
Syndactyly, Finger syndactyly, Toe syndactyly, Patent ductus arteriosus, Postaxial hand polydacty... ORPHA:65759
Jackson-Weiss Syndrome
Mandibular prognathia, Hypoplasia of the maxilla, Abnormal palate morphology ORPHA:1540
Camptodactyly Syndrome, Guadalajara Type 1
Mandibular prognathia, Attached earlobe, Low-set, posteriorly rotated ears, Camptodactyly of fing... ORPHA:1327
Polydactyly, Preaxial Iv
Duplication of thumb phalanx, Preaxial polydactyly, Dysplastic distal thumb phalanges with a cent... OMIM:174700
Meckel Syndrome, Type 6
Occipital encephalocele, Hydrocephalus, Postaxial hand polydactyly, Bilobed right lung, Anencepha... OMIM:612284
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects
Bicuspid aortic valve, Congenital diaphragmatic hernia, Cardiomegaly, Abnormally large globe, Sho... OMIM:245600
Walker-Warburg Syndrome
Ventriculomegaly, Anophthalmia, Posteriorly rotated ears, Cryptorchidism, Hydrocephalus, Submucou... ORPHA:899
Ferguson-Bonni Neurodevelopmental Syndrome
High palate, Congenital diaphragmatic hernia, Patent foramen ovale, Coronary-pulmonary artery fis... OMIM:619699
Coffin-Siris Syndrome 2
Delayed eruption of teeth, Abnormal pinna morphology, Cryptorchidism, Thick lower lip vermilion, ... OMIM:614607
Achondrogenesis, Type Ia
Abnormal femoral metaphysis morphology, Barrel-shaped chest, Hypoplastic scapulae, Micromelia, Bo... OMIM:200600
Shprintzen-Goldberg Syndrome
Osteopenia, Communicating hydrocephalus, Posteriorly rotated ears, Camptodactyly of finger, Crani... ORPHA:2462
Microcephaly-Micromelia Syndrome
Micromelia, Absent thumb, Absent radius, Missing ribs, Aqueductal stenosis, Humeroradial synostos... OMIM:251230
Chromosome 22Q11.2 Duplication Syndrome
Abnormal pinna morphology, Micrognathia, Velopharyngeal insufficiency, High palate, Low-set ears OMIM:608363
Oculofaciocardiodental Syndrome
Delayed eruption of teeth, Intestinal malrotation, Abnormality of the dentition, Sensorineural he... ORPHA:2712
Van Maldergem Syndrome 2
Osteopenia, Irregular dentition, Joint laxity, Tented upper lip vermilion, Micrognathia, Hypoplas... OMIM:615546
Stankiewicz-Isidor Syndrome
Ventricular septal defect, Absent thumb, Short thumb, Patent ductus arteriosus, 2-3 toe syndactyl... OMIM:617516
Mosaic Trisomy 16
Abnormality of the gastrointestinal tract, Syndactyly, Meckel diverticulum, Ventricular septal de... ORPHA:1708
Cutis Laxa, Autosomal Recessive, Type Ic
Posterolateral diaphragmatic hernia, Peripheral pulmonary artery stenosis, Inguinal hernia, Acces... OMIM:613177
Heart-Hand Syndrome, Slovenian Type
Syndactyly, Dilated cardiomyopathy, Aplasia of the middle phalanx of the hand, Clinodactyly, Brac... OMIM:610140
Ossification Of The Posterior Longitudinal Ligament Of Spine
Spinal cord compression, Myelopathy OMIM:602475
Cortical Dysplasia, Complex, With Other Brain Malformations 9
Hydrocephalus, Bilateral talipes equinovarus, Pulmonary hypoplasia OMIM:618174
Acrocallosal Syndrome
Postaxial hand polydactyly, Congenital diaphragmatic hernia, Inguinal hernia, Triphalangeal thumb ORPHA:36
Greenberg Dysplasia
Micromelia, Beaded ribs, Abnormal lung lobation, Tetraphocomelia, Hypoplasia of the calcaneus, Na... OMIM:215140
Bardet-Biedl Syndrome 13
Bone spicule pigmentation of the retina, Polydactyly OMIM:615990
Cutis Laxa, Autosomal Recessive, Type Ia
Recurrent respiratory infections, Inguinal hernia, Arachnodactyly, Congenital diaphragmatic herni... OMIM:219100
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 4
Abnormal lower motor neuron morphology, Joint contracture of the hand, Talipes equinovarus OMIM:611067
Ptosis-Upper Ocular Movement Limitation-Absence Of Lacrimal Punctum Syndrome
Microretrognathia, Posteriorly rotated ears, Abnormal pinna morphology, Hypoplasia of the maxilla... ORPHA:228396
Metaphyseal Chondrodysplasia, Schmid Type
Broad proximal phalanges of the hand, Bowing of the legs, Short tubular bones of the hand, Proxim... ORPHA:174
Juvenile Primary Lateral Sclerosis
Abnormal upper motor neuron morphology ORPHA:247604
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
Barber-Say Syndrome
Delayed eruption of teeth, Mandibular prognathia, Absent nipple, Extra concha fold, Micrognathia,... OMIM:209885
Rubinstein-Taybi Syndrome 2
Posteriorly rotated ears, Intestinal malrotation, Micrognathia, Carious teeth, Talon cusp, Dental... OMIM:613684
Cleidocranial Dysplasia
Delayed eruption of teeth, Mandibular prognathia, Sinusitis, Recurrent fractures, Abnormal dental... ORPHA:1452
Atelosteogenesis, Type Iii
Hypoplasia of the maxilla, Malar flattening, Cleft palate, Micrognathia OMIM:108721
Mesomelia-Synostoses Syndrome
Hearing impairment, Joint stiffness, Aplasia/Hypoplasia of the uvula, High, narrow palate, Microg... ORPHA:2496
Parietal Foramina 2
Encephalocele OMIM:609597
Metatropic Dysplasia
Abnormal metaphyseal vascular invasion, Long coccyx, Narrow greater sciatic notch, Halberd-shaped... OMIM:156530
Teebi Hypertelorism Syndrome 2
Delayed eruption of teeth, Thin upper lip vermilion, Cleft palate, Everted lower lip vermilion, H... OMIM:619736
Spinal Muscular Atrophy With Mental Retardation
Syndactyly OMIM:271109
Multicentric Osteolysis, Nodulosis, And Arthropathy
Osteopenia, Hip contracture, Delayed eruption of teeth, Interphalangeal joint contracture of fing... OMIM:259600
Methylmalonic Aciduria And Homocystinuria, Cblf Type
Hepatomegaly, Dextrocardia, Patent ductus arteriosus, Tracheoesophageal fistula, High palate, Tal... OMIM:277380
Cataract-Intellectual Disability-Hypogonadism Syndrome
Low-set, posteriorly rotated ears, Hypogonadotropic hypogonadism, Micrognathia, Cryptorchidism, F... ORPHA:1387
Fused Mandibular Incisors
Advanced eruption of teeth, Abnormality of the dentition ORPHA:2287
Pseudohermaphroditism, Female, With Skeletal Anomalies
Short mandibular condyles, Hypoplasia of the maxilla OMIM:264270
Chromosome 22Q11.2 Deletion Syndrome, Distal
Truncus arteriosus OMIM:611867
Duplication Of The Pituitary Gland
Encephalocele, Abnormality of joint mobility, Supernumerary tooth, Abnormal pituitary gland morph... ORPHA:314621
Brachydactyly, Coloboma, And Anterior Segment Dysgenesis
Syndactyly, Coloboma, Microphthalmia, Clinodactyly, Iris coloboma, Brachydactyly OMIM:610023
Cooper-Jabs Syndrome
Ventricular septal defect, Camptodactyly of finger, Congenital diaphragmatic hernia, Proximal pla... ORPHA:1488
Orofaciodigital Syndrome Xviii
Sandal gap, Single transverse palmar crease, Postaxial polydactyly, Accessory oral frenulum, Dias... OMIM:617927
Craniometadiaphyseal Dysplasia
Osteopenia, Natal tooth, Mandibular prognathia, Dental crowding, Abnormally large globe, Carious ... OMIM:269300
Microcephaly-Cleft Palate-Abnormal Retinal Pigmentation Syndrome
Mandibular prognathia, Camptodactyly of finger, Micrognathia, Submucous cleft hard palate, Cleft ... ORPHA:2521
Hernia, Anterior Diaphragmatic
Congenital diaphragmatic hernia OMIM:306950
Zaki Syndrome
Toe syndactyly, Congenital diaphragmatic hernia, Long fingers, Patent ductus arteriosus, Ectrodac... OMIM:619648
Short-Rib Thoracic Dysplasia 14 With Polydactyly
Postaxial polydactyly, Aplastic clavicle, Micromelia, Hydrocephalus, Preaxial polydactyly, Anence... OMIM:616546
Robinow Syndrome, Autosomal Dominant 2
Thin upper lip vermilion, Mixed hearing impairment, Dental crowding, Cleft soft palate, Abnormali... OMIM:616331
Acropectorovertebral Dysplasia
Finger syndactyly, Camptodactyly of finger, Tarsal synostosis, Spina bifida, High, narrow palate,... ORPHA:957
Hydrocephalus, Congenital, 1
Hydrocephalus, Ventriculomegaly OMIM:236600
Severe Congenital Nemaline Myopathy
Skeletal muscle atrophy, Facial palsy, Increased connective tissue, Flexion contracture, Facial d... ORPHA:171430
Cowden Syndrome 1
Colonic diverticula, Hyperthyroidism, Micrognathia, Hypoplasia of the maxilla, Goiter, Thyroiditi... OMIM:158350
Osteopathia Striata-Cranial Sclerosis Syndrome
Delayed eruption of teeth, Increased bone mineral density, Posteriorly rotated ears, Micrognathia... ORPHA:2780
Diaphragmatic Hernia, Congenital
Congenital diaphragmatic hernia OMIM:142340
Diaphragmatic Hernia 3
Congenital diaphragmatic hernia OMIM:610187
Kyphomelic Dysplasia
Bowing of the long bones, Anterior rib cupping, Micromelia, Missing ribs, Lateral clavicle hook, ... ORPHA:1801
Hyper-Ige Syndrome 1, Autosomal Dominant, With Recurrent Infections
Osteopenia, Recurrent fractures, Craniosynostosis, Persistence of primary teeth, High palate, Joi... OMIM:147060
Spondylospinal Thoracic Dysostosis
Hypoplasia of the maxilla, Arthrogryposis multiplex congenita, Micrognathia OMIM:601809
Microcephaly-Capillary Malformation Syndrome
Hypoplasia of the maxilla, Low-set ears, Cleft palate, Hearing impairment OMIM:614261
Fanconi Anemia, Complementation Group D2
Absent thumb, Absent radius, Preaxial hand polydactyly, Short thumb, Patent ductus arteriosus, Pa... OMIM:227646
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly
Atrial septal defect, Ventricular septal defect, Lateral clavicle hook, Preaxial hand polydactyly... OMIM:263520
Ear-Patella-Short Stature Syndrome
Micrognathia, Hypoplasia of the maxilla, High, narrow palate, Anotia, Bifid uvula, Microtia, thir... ORPHA:2554
Supravalvular Aortic Stenosis
Pulmonary artery stenosis, Peripheral arterial stenosis, Pulmonic stenosis OMIM:185500
Distal Deletion 15Q
Bicuspid aortic valve, Single transverse palmar crease, Congenital diaphragmatic hernia, 2-3 toe ... ORPHA:1596
Neuroocular Syndrome
Hypoplasia of the fovea, Hyperextensibility of the finger joints, Unilateral deafness, Short uvul... OMIM:619539
Gordon Syndrome
Finger syndactyly, Camptodactyly of finger, Cleft palate, High palate, Clinodactyly of the 5th fi... ORPHA:376
Tracheoesophageal Fistula With Or Without Esophageal Atresia
Esophageal atresia, Tracheoesophageal fistula OMIM:189960
Spermatogenic Failure 81
Multiple non-erupting secondary teeth OMIM:620277
Lethal Congenital Contracture Syndrome Type 1
Abnormality of the elbow, Abnormal rib morphology, Slender long bone, Pulmonary hypoplasia, Abnor... ORPHA:1486
Nablus Mask-Like Facial Syndrome
Smooth philtrum, Thin upper lip vermilion, Posteriorly rotated ears, Craniosynostosis, Abnormalit... OMIM:608156
Marden-Walker Syndrome
Decreased muscle mass, Inguinal hernia, Arachnodactyly, Dextrocardia, High, narrow palate, Pylori... OMIM:248700
Zimmermann-Laband Syndrome
Micrognathia, Supernumerary tooth, Sensorineural hearing impairment, Gingival fibromatosis, Cleft... ORPHA:3473
Tetrasomy 12P
Delayed eruption of teeth, Thin upper lip vermilion, Abnormal soft palate morphology, Downturned ... ORPHA:884
Limb Body Wall Complex
Cutaneous finger syndactyly, Atrial septal defect, Aplasia of the proximal phalanges of the hand,... ORPHA:2369
Chromosome 1Q41-Q42 Deletion Syndrome
Ventricular septal defect, Sandal gap, Congenital diaphragmatic hernia, 3-4 finger cutaneous synd... OMIM:612530
Spinocerebellar Ataxia, Autosomal Recessive 20
Delayed eruption of teeth, Dental crowding, Hearing impairment, Sensorineural hearing impairment,... OMIM:616354
Lissencephaly 5
Occipital encephalocele, Hydrocephalus OMIM:615191
Hypothyroidism, Congenital, Nongoitrous, 6
Delayed eruption of teeth, Increased T3/T4 ratio, Congenital hypothyroidism, Macroglossia, Impair... OMIM:614450
Biemond Syndrome Type 2
Microphthalmia, Coloboma, Hydrocephalus, Preaxial polydactyly ORPHA:141333
Ulnar Hemimelia
Glenoid fossa hypoplasia, Limited elbow movement, Abnormal calcification of the carpal bones, Apl... ORPHA:93320
Achondroplasia
Brachydactyly, Radial bowing, Rhizomelia, Short femur, Thoracic hypoplasia, Bowing of the legs, U... OMIM:100800
Clark-Baraitser syndrome
Joint laxity, Exaggerated median tongue furrow, Thick lower lip vermilion, Prominent median palat... OMIM:300602
Meier-Gorlin Syndrome 5
Micrognathia, Hypoplasia of the maxilla, Cryptorchidism, Submucous cleft hard palate, Microtia, T... OMIM:613805
Cardiac Valvular Dysplasia 1
Atrial septal defect, Inguinal hernia, Ventricular septal defect, Left atrial enlargement, Tricus... OMIM:212093
Phaver Syndrome
Broad hallux phalanx, Ventricular septal defect, Camptodactyly of finger, Short thumb, Hypoplasti... ORPHA:2876
Gorlin-Chaudhry-Moss Syndrome
Abnormality of the dentition, Hypoplasia of the maxilla, Oligodontia, Conductive hearing impairme... ORPHA:2095
Premature Aging Syndrome, Penttinen Type
Delayed eruption of teeth, Recurrent fractures, Micrognathia, Hypoplasia of the maxilla, Narrow p... OMIM:601812
Joubert Syndrome 9
Encephalocele, Ventriculomegaly OMIM:612285
Leukodystrophy, Hypomyelinating, 26, With Chondrodysplasia
Joint laxity, Pierre-Robin sequence, Advanced ossification of carpal bones, Cleft palate, Glossop... OMIM:620269
Xp22.13P22.2 Duplication Syndrome
Congenital diaphragmatic hernia, Tapered finger, Recurrent upper respiratory tract infections, Sm... ORPHA:284180
Agnathia-Otocephaly Complex
Micrognathia, Conductive hearing impairment, Aglossia, Cleft palate, Holoprosencephaly, Low-set e... OMIM:202650
Immunodeficiency 33
Delayed eruption of teeth, Hypodontia, Conical tooth OMIM:300636
Frontonasal Dysplasia-Severe Microphthalmia-Severe Facial Clefting Syndrome
Camptodactyly of finger, Facial cleft, Cleft palate, Finger clinodactyly, Pectoral muscle hypopla... ORPHA:306542
Pseudopseudohypoparathyroidism
Delayed eruption of teeth, Enamel hypoplasia, Osteoporosis, Pseudohypoparathyroidism OMIM:612463
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly
Hypoplasia of the ulna, Recurrent respiratory infections, Lateral clavicle hook, Horizontal ribs,... OMIM:208500
Osteopetrosis, Autosomal Recessive 2
Mandibular prognathia, Osteomyelitis, Recurrent fractures, Persistence of primary teeth, Mandibul... OMIM:259710
Acropectorovertebral Dysplasia
Finger syndactyly, Toe syndactyly, Bifid distal phalanx of the thumb, Capitate-hamate fusion, Sho... OMIM:102510
Leukomelanoderma-Infantilism-Intellectual Disability-Hypodontia-Hypotrichosis Syndrome
Delayed eruption of teeth, Hypodontia, Delayed puberty ORPHA:1816
Bardet-Biedl Syndrome 7
Postaxial polydactyly, 2-3 toe syndactyly, Polydactyly, Narrow mouth, Clinodactyly OMIM:615984
Peters-Plus Syndrome
Short lingual frenulum, Bilobate gallbladder, Limited elbow movement, Micrognathia, Hypoplasia of... OMIM:261540
Absent Eyebrows And Eyelashes With Mental Retardation
Encephalocele OMIM:200130
Neural Tube Defects, Folate-Sensitive
Spinal dysraphism OMIM:601634
Temple-Baraitser Syndrome
Delayed eruption of teeth, Everted upper lip vermilion, Tented upper lip vermilion, Delayed phala... ORPHA:420561
Amelo-Onycho-Hypohidrotic Syndrome
Delayed eruption of teeth, Abnormality of dental color, Abnormal dental morphology, Abnormal dent... ORPHA:1028
Myhre Syndrome
Mandibular prognathia, Craniofacial hyperostosis, Joint stiffness, Hypoplasia of the maxilla, Pre... ORPHA:2588
Acromelic Frontonasal Dysplasia
Encephalocele, Meningocele, Choroid plexus cyst, Patellar hypoplasia, Talipes equinovarus, Preaxi... ORPHA:1827
Osteoglosphonic Dysplasia
Craniosynostosis, Micrognathia, Cryptorchidism, Protruding ear, Tooth agenesis, Multiple unerupte... ORPHA:2645
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome
Abnormal clavicle morphology, Bowing of the long bones, Rhizomelia, Ventricular septal defect, Pr... ORPHA:93267
Retinal Arterial Macroaneurysm With Supravalvular Pulmonic Stenosis
Retinal arterial macroaneurysms, Pulmonic stenosis OMIM:614224
Charge Syndrome
Anophthalmia, Abnormal palmar dermatoglyphics, Secundum atrial septal defect, Hand monodactyly, A... OMIM:214800
Donnai-Barrow Syndrome
Omphalocele, Ventricular septal defect, Intestinal malrotation, Congenital diaphragmatic hernia, ... ORPHA:2143
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome
Syndactyly, Ventricular septal defect, Hydrocephalus, Polydactyly, Microphthalmia, Smooth philtrum OMIM:602501
Bent Bone Dysplasia Syndrome 1
Natal tooth, Micrognathia, Abnormally large globe, Gingival overgrowth, Decreased calvarial ossif... OMIM:614592
Solitary Bone Cyst
Abnormal tibia morphology, Abnormal spinal cord morphology, Abnormal pubic bone morphology, Proxi... ORPHA:83468
Microphthalmia, Syndromic 5
Joint laxity, Ectopic posterior pituitary, Anophthalmia, Optic nerve hypoplasia, Cryptorchidism, ... OMIM:610125
Multinucleated Neurons, Anhydramnios, Renal Dysplasia, Cerebellar Hypoplasia, And Hydranencephaly
Hydranencephaly, Single transverse palmar crease, 2-3 toe syndactyly, Cutaneous syndactyly, Talip... OMIM:236500
Seckel Syndrome 9
Recurrent respiratory infections, Ventricular septal defect, Congenital diaphragmatic hernia, Pul... OMIM:616777
Joubert Syndrome 15
Molar tooth sign on MRI, Preaxial polydactyly, Exencephaly OMIM:614464
Epilepsy, Progressive Myoclonic, 9
Microglossia, Agenesis of corpus callosum, Ventriculomegaly OMIM:616540
Terminal Osseous Dysplasia-Pigmentary Defects Syndrome
Syndactyly, Accessory oral frenulum, Osteolysis involving bones of the upper limbs, Osteolysis in... ORPHA:88630
Cockayne Syndrome Type 1
Mandibular prognathia, Absent brainstem auditory responses, Anophthalmia, Foot joint contracture,... ORPHA:90321
Steatocystoma Multiplex With Natal Teeth
Natal tooth OMIM:184510
Aredyld Syndrome
Mandibular prognathia, Craniofacial hyperostosis, Low-set, posteriorly rotated ears, Abnormal den... ORPHA:1133
Acrootoocular Syndrome
Delayed eruption of teeth, Decreased response to growth hormone stimulation test, Grayish enamel,... ORPHA:2980
Hyposmia-Nasal And Ocular Hypoplasia-Hypogonadotropic Hypogonadism Syndrome
Anophthalmia, Cryptorchidism, Submucous cleft hard palate, Cleft palate, Hypogonadism, Microphtha... ORPHA:2250
Brachycephaly, Trichomegaly, And Developmental Delay
Supernumerary tooth, Submucous cleft hard palate, Thick lower lip vermilion, Overfolded helix, Th... OMIM:617412
3Mc Syndrome 3
Cleft upper lip, Preaxial polydactyly, Facial cleft, Cleft palate, Radioulnar synostosis, Clinoda... OMIM:248340
Bardet-Biedl Syndrome 11
Polydactyly OMIM:615988
Branchioskeletogenital Syndrome
Mandibular prognathia, Attached earlobe, Mixed hearing impairment, Absent nipple, Unilateral clef... ORPHA:1299
Joubert Syndrome 22
Postaxial hand polydactyly, 2-3 toe syndactyly, Postaxial foot polydactyly, Molar tooth sign on M... OMIM:615665
Al-Gazali-Bakalinova Syndrome
Epiphyseal dysplasia, Tapered finger, Lymphedema, Flattened epiphysis, Genu valgum, Polydactyly, ... OMIM:607131
Syndactyly Type 4
1-5 finger syndactyly, Toe syndactyly, Camptodactyly of finger, 6 metacarpals, Hand polydactyly, ... ORPHA:93405
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia
11 pairs of ribs, Rhizomelia, Hydrocephalus, Metaphyseal cupping of proximal phalanges, Thin ribs... OMIM:300863
Spondyloepimetaphyseal Dysplasia Congenita, Strudwick Type
Abnormally ossified vertebrae, Restricted large joint movement, Maternal diabetes, Micrognathia, ... ORPHA:93346
Von Willebrand Disease
Venous insufficiency, Deviation of finger, Abnormal mitral valve morphology ORPHA:903
Bartsocas-Papas Syndrome 1
Hypoplastic iliac wing, Patent foramen ovale, Short phalanx of finger, Syndactyly, Short metacarp... OMIM:263650
4H Leukodystrophy
Delayed eruption of teeth, Hypogonadotropic hypogonadism, Decreased response to growth hormone st... ORPHA:289494
Failure Of Tooth Eruption, Primary
Failure of eruption of permanent teeth, Hypodontia, Persistence of primary teeth OMIM:125350
Laron Syndrome
Delayed eruption of teeth, Micrognathia, Abnormality of the endocrine system, Osteoarthritis, Too... ORPHA:633
Mesoaxial Synostotic Syndactyly With Phalangeal Reduction
Finger syndactyly, Toe syndactyly, Short hallux, Aplasia/Hypoplasia of the middle phalanges of th... ORPHA:157801
Genitopalatocardiac Syndrome
Congenital diaphragmatic hernia, Postaxial hand polydactyly, Abnormal mesentery morphology, Abnor... ORPHA:2075
15Q11Q13 Microduplication Syndrome
Clinodactyly of the 5th finger, Finger syndactyly ORPHA:238446
Spondyloepimetaphyseal Dysplasia, Irapa Type
Short metacarpal, Micromelia, Abnormal carpal morphology, Short metatarsal, Coxa vara, Broad palm... ORPHA:93351
Isolated Cleft Lip
Macrodontia, Bilateral cleft lip, Conductive hearing impairment, Velopharyngeal insufficiency, No... ORPHA:199302
3P25.3 Microdeletion Syndrome
Skeletal muscle atrophy, Broad hallux, Overlapping toe, Proximal placement of thumb, Tapered fing... ORPHA:435638
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 3
Osteopenia, Joint laxity, Delayed eruption of teeth, Camptodactyly of finger, Dental malocclusion... OMIM:612350
Anophthalmia-Megalocornea-Cardiopathy-Skeletal Anomalies Syndrome
Mandibular prognathia, Anophthalmia, Camptodactyly of finger, Hypoplasia of the maxilla, High, na... ORPHA:1101
Holoprosencephaly
Anophthalmia, Deep philtrum, Holoprosencephaly, Dandy-Walker malformation, Encephalocele, Diabete... ORPHA:2162
Boomerang Dysplasia
Omphalocele, Finger syndactyly, Abnormal morphology of the radius, Abnormal morphology of ulna, M... ORPHA:1263
Chronic Granulomatous Disease
Recurrent respiratory infections, Hepatomegaly, Liver abscess, Malabsorption, Splenomegaly, Pylor... ORPHA:379
8Q24.3 Microdeletion Syndrome
Branchial cyst, Thoracic scoliosis, Congenital hip dislocation, Single transverse palmar crease, ... ORPHA:508488
Angelman Syndrome
Mandibular prognathia, Protruding tongue, Hypoplasia of the maxilla, Wide mouth, Macroglossia, Wi... OMIM:105830
Kallmann Syndrome-Heart Disease Syndrome
Anomalous origin of left coronary artery from the pulmonary artery, Midgut malrotation, Dilated c... ORPHA:2326
Lymphedema, Cardiac Septal Defects, And Characteristic Facies
Omphalocele, Overriding aorta, Ventricular septal defect, Patent ductus arteriosus, Vascular ring... OMIM:601927
Double Outlet Right Ventricle
Ventricular septal defect, Abnormality of cartilage of external ear, Double outlet right ventricl... ORPHA:3426
Bartsocas-Papas Syndrome 2
Accessory oral frenulum, Micrognathia, Bilateral cleft lip and palate, Low-set ears, Microphthalm... OMIM:619339
Chromosome 16P12.2-P11.2 Deletion Syndrome, 7.1- To 8.7-Mb
Thin upper lip vermilion, Posteriorly rotated ears, Micrognathia, Pierre-Robin sequence, Glossopt... OMIM:613604
Tracheal Agenesis
Aplasia/Hypoplasia of the lungs, Abnormal cardiac septum morphology, Tracheal atresia ORPHA:3346
Syndactyly, Mesoaxial Synostotic, With Phalangeal Reduction
Aplasia/Hypoplasia of the thumb, Single transverse palmar crease, Aplasia/Hypoplasia of the middl... OMIM:609432
Spastic Paraplegia 16, X-Linked
Hypoplasia of the maxilla OMIM:300266
Cataract-Aberrant Oral Frenula-Growth Delay Syndrome
Low-set, posteriorly rotated ears, Umbilical hernia, Accessory oral frenulum ORPHA:1373
Carey-Fineman-Ziter Syndrome 2
Thin upper lip vermilion, Dental crowding, Posteriorly rotated ears, Micrognathia, High, narrow p... OMIM:619941
Brachydactyly, Type E2
Delayed eruption of teeth, Oligodontia OMIM:613382
Hypogonadotropic Hypogonadism 26 With Or Without Anosmia
Osteopenia, Hypogonadotropic hypogonadism, Joint hypermobility, Diastema, Agenesis of molar, Supe... OMIM:619718
Congenital Muscular Dystrophy With Cerebellar Involvement
Dilated fourth ventricle, Occipital encephalocele, Optic nerve hypoplasia, Hydrocephalus, Cardiom... ORPHA:370959
Mmep Syndrome
Ventricular septal defect, Cryptorchidism, Split foot, Triphalangeal thumb, Microphthalmia ORPHA:3434
Split-Hand/Foot Malformation 4
Syndactyly, Aplasia/Hypoplasia of the phalanges of the hand, Split hand, Aplasia/Hypoplasia of th... OMIM:605289
Acrocallosal Syndrome
Mandibular prognathia, Downturned corners of mouth, High palate, Short philtrum, Agenesis of corp... OMIM:200990
Vascular Malformation, Primary Intraosseous
Umbilical hernia, Ectopic tooth eruption, Gingival bleeding OMIM:606893
Bardet-Biedl Syndrome 14
Polydactyly OMIM:615991
Raine Syndrome
Mandibular prognathia, Micrognathia, Protruding ear, High palate, Microdontia, Neonatal death, De... OMIM:259775
Cardiac Diverticulum
Bicuspid aortic valve, Bicuspid pulmonary valve, Pulmonary artery hypoplasia, Atrial septal defec... ORPHA:1686
Axial Spondylometaphyseal Dysplasia
Thoracic scoliosis, Proximal femoral metaphyseal irregularity, Coxa vara, Deformed rib cage, Narr... ORPHA:168549
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Severe Form
Osteopenia, Erosion of oral mucosa, Foot joint contracture, Anal fissure, Oral mucosal blisters, ... ORPHA:79408
Townes-Brocks Syndrome 1
Short metatarsal, Gastroesophageal reflux, Triphalangeal thumb, Atrial septal defect, 2-4 finger ... OMIM:107480
Nance-Horan Syndrome
Diastema, Screwdriver-shaped incisors, Mulberry molar, Supernumerary maxillary incisor, Microphth... OMIM:302350
Short-Rib Thoracic Dysplasia 20 With Polydactyly
Natal tooth, Postaxial polydactyly, Lateral clavicle hook, Complete atrioventricular canal defect... OMIM:617925
Parietal Foramina 1
Encephalocele OMIM:168500
Trichorhinophalangeal Syndrome Type 2
Low-set, posteriorly rotated ears, Thin upper lip vermilion, Ventriculomegaly, Abnormality of the... ORPHA:502
Gigantiform Cementoma, Familial
Cementoma, Tooth malposition, Multiple impacted teeth OMIM:137575
Meier-Gorlin Syndrome 4
Micrognathia, Hypoplasia of the maxilla, Cryptorchidism, Thick lower lip vermilion, Microtia, Low... OMIM:613804
Nasopalpebral Lipoma-Coloboma Syndrome
Hypoplasia of the maxilla, Microphthalmia, Cupped ear, Low-set ears OMIM:167730
Meckel Syndrome, Type 1
Occipital encephalocele, Dandy-Walker malformation, Syndactyly, Patent ductus arteriosus, Postaxi... OMIM:249000
Fraser Syndrome 1
Encephalocele, Aplasia/Hypoplasia of the thumb, Abnormal small intestine morphology, Anophthalmia... OMIM:219000
Masa Syndrome
Clinodactyly of the 5th finger, Ventriculomegaly, Camptodactyly of finger, Hand clenching ORPHA:2466
Acrofacial Dysostosis, Cincinnati Type
Micrognathia, Hypoplasia of the maxilla, Macrotia, Cleft palate, Anotia, Microtia, Retrognathia, ... OMIM:616462
Hypo- And Hypermelanotic Cutaneous Macules-Retarded Growth-Intellectual Disability Syndrome
Abnormal rib morphology ORPHA:2435
Ventricular Septal Defect 3
Pulmonary artery stenosis, Atrial septal defect, Patent ductus arteriosus, Ventricular septal defect OMIM:614432
Microcephalic Primordial Dwarfism, Toriello Type
Recurrent respiratory infections, Abnormal rib morphology, Abnormal epiphysis morphology, Ventric... ORPHA:2643
Joubert Syndrome 13
Molar tooth sign on MRI OMIM:614173
Odontochondrodysplasia
Delayed eruption of teeth, Death in infancy, Joint hyperflexibility, Retrognathia, Dentinogenesis... ORPHA:166272
Ivic Syndrome
Limited elbow movement, Preaxial polydactyly, Pectoralis major hypoplasia, Triphalangeal thumb, H... OMIM:147750
Orofaciodigital Syndrome Viii
Syndactyly, Median cleft lip, Cleft palate, Polydactyly, High palate, Short tibia OMIM:300484
14Q22Q23 Microdeletion Syndrome
Optic nerve aplasia, Anophthalmia, Posteriorly rotated ears, Anterior pituitary hypoplasia, Adren... ORPHA:264200
Autosomal Recessive Spondylocostal Dysostosis
Finger syndactyly, Inguinal hernia, Camptodactyly of finger, Congenital diaphragmatic hernia, Ano... ORPHA:2311
Multiple Epiphyseal Dysplasia, Lowry Type
Micrognathia, Cleft hard palate, Delayed epiphyseal ossification, Knee flexion contracture, Fixed... ORPHA:166016
Branchiogenic-Deafness Syndrome
Branchial cyst, Branchial fistula, Mixed hearing impairment, Abnormality of the middle ear ossicl... OMIM:609166
Geroderma Osteodysplasticum
Osteopenia, Hyperextensibility of the finger joints, Mandibular prognathia, Recurrent fractures, ... OMIM:231070
Developmental Delay With Short Stature, Dysmorphic Facial Features, And Sparse Hair 1
Natal tooth, Death in infancy, Sagittal craniosynostosis, Micrognathia, Low-set ears, Death in ch... OMIM:616901
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly
Ventriculomegaly, Ventricular septal defect, Lateral clavicle hook, Postaxial hand polydactyly, H... OMIM:615630
Growth Retardation, Developmental Delay, And Facial Dysmorphism
Protruding tongue, Cryptorchidism, Hydrocephalus, Sensorineural hearing impairment, Alveolar ridg... OMIM:612938
8P23.1 Duplication Syndrome
Toe syndactyly, Tetralogy of Fallot, Ventricular septal defect, Pulmonic stenosis ORPHA:251076
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 4B
Pulmonary hypoplasia OMIM:615228
7Q31 Microdeletion Syndrome
Hypoplasia of the maxilla, Hypoplasia of the cochlea, Wide mouth, Hypoplasia of the semicircular ... ORPHA:251061
Lethal Congenital Contracture Syndrome 1
Paucity of anterior horn motor neurons, Neonatal death, Edema OMIM:253310
Orofaciodigital Syndrome Xvii
Short middle phalanx of the 2nd finger, High, narrow palate, Partial duplication of thumb phalanx... OMIM:617926
Phocomelia, Schinzel Type
Bowing of the long bones, Radial bowing, Micromelia, Aplasia of the ulna, High, narrow palate, Ab... ORPHA:2879
Holzgreve Syndrome
Hand polydactyly, Hypoplastic left heart, Cleft palate, Cleft upper lip OMIM:236110
Nevus Comedonicus Syndrome
Finger syndactyly, Toe syndactyly, Spina bifida, Preaxial polydactyly, Spina bifida occulta ORPHA:64754
Orofaciodigital Syndrome Xv
Midline notch of upper alveolar ridge, Lobulated tongue, Low-set ears, Agenesis of corpus callosu... OMIM:617127
Subependymal Nodular Heterotopia
Occipital encephalocele, Myelomeningocele, Meningocele, Nasofrontal encephalocele ORPHA:101030
Holoprosencephaly 7
Alobar holoprosencephaly, Partial agenesis of the corpus callosum, Holoprosencephaly, Agenesis of... OMIM:610828
Meier-Gorlin Syndrome 1
Joint laxity, Incomplete partition of the cochlea type II, Death in infancy, Absent sternal ossif... OMIM:224690
Dysraphism-Cleft Lip/Palate-Limb Reduction Defects Syndrome
Ventricular septal defect, Spina bifida, Non-midline cleft lip, Anencephaly, Cleft palate, Aplasi... ORPHA:2476
Atrial Septal Defect 2
Ventricular septal defect, Dextrocardia, Patent ductus arteriosus, Pulmonic stenosis, Atrial sept... OMIM:607941
Liang-Wang Syndrome
Thin upper lip vermilion, Diastema, Gingival overgrowth, Downturned corners of mouth, Macroglossi... OMIM:618729
Congenital Disorder Of Glycosylation, Type Iiw
Micrognathia, Supernumerary tooth, Osteoporosis, Bile duct proliferation, Low-set ears, Type I di... OMIM:619525
Autosomal Recessive Cerebellar Ataxia-Movement Disorder Syndrome
Abnormal lower motor neuron morphology ORPHA:95434
Developmental Delay, Impaired Speech, And Behavioral Abnormalities
Joint laxity, Thin upper lip vermilion, Ventriculomegaly, Osteomyelitis, High, narrow palate, Sho... OMIM:619475
Orofaciodigital Syndrome Iii
Supernumerary tooth, Tongue nodules, Low-set ears, Microdontia, Bifid tongue, Bifid uvula OMIM:258850
Teebi Hypertelorism Syndrome 1
Omphalocele, Ventricular septal defect, Small hand, Broad palm, Aortic root aneurysm, Pulmonary h... OMIM:145420
Pycnodysostosis
Increased bone mineral density, Delayed eruption of primary teeth, Persistence of primary teeth, ... OMIM:265800
Split hand/foot malformation 1 (SHFM1)
Toe syndactyly, Median cleft lip, Split hand, 2-3 toe syndactyly, Cleft palate, Cutaneous finger ... DECIPHER:46
Distal Triplication 15Q
Arachnodactyly, Patent ductus arteriosus, Hypoplastic aortic arch, Flexion contracture, Abnormal ... ORPHA:314588
16P13.11 Microduplication Syndrome
Arachnodactyly, Ventricular septal defect, Coarctation of aorta, Hand polydactyly, Transposition ... ORPHA:261243
Atkin-Flaitz Syndrome
Abnormality of the dentition, Thick vermilion border, Everted lower lip vermilion, Macroorchidism... ORPHA:1193
Hypoplastic Left Heart Syndrome
Mitral atresia, Patent ductus arteriosus, Hypoplastic aortic arch, Hypoplastic left heart, Atrial... ORPHA:2248
Aphalangy-Hemivertebrae-Urogenital-Intestinal Dysgenesis Syndrome
Finger syndactyly, Toe syndactyly, Elbow dislocation, Patent ductus arteriosus, Aplasia/Hypoplasi... ORPHA:1112
Joubert Syndrome 40
Molar tooth sign on MRI, Optic nerve hypoplasia, Postaxial polydactyly OMIM:619582
Mesomelic Dysplasia, Kantaputra Type
Camptodactyly of finger, Tarsal synostosis, Abnormality of the humerus, Abnormal rib morphology, ... ORPHA:1836
Mitochondrial Complex I Deficiency, Nuclear Type 35
Cardiomyopathy, Pulmonary hypoplasia OMIM:619003
Intellectual Developmental Disorder, Autosomal Dominant 63, With Macrocephaly
Delayed eruption of teeth, Dental crowding, Wide mouth, High palate, Long philtrum OMIM:618825
Short-Rib Thoracic Dysplasia 18 With Polydactyly
Ventriculomegaly, Radial bowing, Single transverse palmar crease, Micromelia, Postaxial polydacty... OMIM:617866
Van Den Ende-Gupta Syndrome
Dental crowding, Posteriorly rotated ears, Craniosynostosis, Micrognathia, Hypoplasia of the maxi... OMIM:600920
Malan Syndrome
Mandibular prognathia, Hyperplasia of the premaxilla, Gingival overgrowth, Everted lower lip verm... OMIM:614753
Blomstrand Lethal Chondrodysplasia
Natal tooth, Short metacarpal, Bowing of the long bones, Rhizomelia, Aplastic clavicle, Short tho... ORPHA:50945
Liebenberg Syndrome
Metaphyseal widening, Elbow flexion contracture, Abnormal carpal morphology, 2-3 finger syndactyl... OMIM:186550
Ectrodactyly-Polydactyly Syndrome
Finger syndactyly, Camptodactyly of finger, Postaxial hand polydactyly, Symphalangism affecting t... ORPHA:1892
Charlie M Syndrome
Finger syndactyly, Narrow mouth, Non-midline cleft lip, Split hand, Tooth agenesis, Thin vermilio... ORPHA:1406
Nanophthalmos 1
Bilateral microphthalmos OMIM:600165
Microphthalmia, Isolated 7
Microphthalmia OMIM:613704
Nanophthalmos 2
Microphthalmia OMIM:609549
Oculoauriculofrontonasal Syndrome
Encephalocele, Ventricular septal defect ORPHA:398156
Craniometaphyseal Dysplasia, Autosomal Recessive
Mandibular prognathia, Mixed hearing impairment, Delayed eruption of permanent teeth, Broad alveo... OMIM:218400
Neurodevelopmental Disorder With Hypotonia, Stereotypic Hand Movements, And Impaired Language
Dilated fourth ventricle, Thin upper lip vermilion, Downturned corners of mouth, Lobulated tongue... OMIM:613443
Nance-Horan Syndrome
Mandibular prognathia, Abnormality of the dentition, Supernumerary tooth, Protruding ear, Microph... ORPHA:627
Charge Syndrome
Anophthalmia, Aqueductal stenosis, Hypoplasia of the semicircular canal, Abnormality of bone mine... ORPHA:138
Chromosome 2Q35 Duplication Syndrome
Distal symphalangism of hands, 3-4 finger syndactyly, 2-3 toe syndactyly, Cutaneous syndactyly OMIM:185900
Acrocraniofacial Dysostosis
Low-set, posteriorly rotated ears, Abnormal pinna morphology, Craniosynostosis, Micrognathia, Abn... ORPHA:949
Renal Agenesis, Bilateral
Tracheoesophageal fistula, Cleft palate, Sirenomelia, Abnormal intestine morphology, Pulmonary hy... ORPHA:1848
Joubert Syndrome
Encephalocele, Situs inversus totalis, Hydrocephalus, Hand polydactyly, Foot polydactyly ORPHA:475
Momo Syndrome
Delayed eruption of teeth, Underfolded helix, Abnormality of the thyroid gland, Thick lower lip v... ORPHA:2563
Orofaciodigital Syndrome Iv
Hamartoma of tongue, Accessory oral frenulum, Micrognathia, Cleft palate, Lobulated tongue, High ... OMIM:258860
Cardiospondylocarpofacial Syndrome
High, narrow palate, Conductive hearing impairment, Failure of eruption of permanent teeth, Tooth... ORPHA:3238
Acrofacial Dysostosis, Palagonia Type
Posteriorly rotated ears, Micrognathia, High, narrow palate, Supernumerary tooth, Oligodontia, Un... ORPHA:1787
Ventricular Extrasystoles With Syncopal Episodes-Perodactyly-Robin Sequence Syndrome
Camptodactyly of finger, High, narrow palate, Submucous cleft hard palate, Abnormal mandible morp... ORPHA:3201
Leber Congenital Amaurosis
Encephalocele ORPHA:65
Triploidy
Finger syndactyly, Intestinal malrotation, Polyhydramnios, Non-midline cleft lip, Hydrocephalus, ... ORPHA:3376
Joubert Syndrome 10
Molar tooth sign on MRI, Postaxial polydactyly OMIM:300804
Short Stature-Valvular Heart Disease-Characteristic Facies Syndrome
Abnormal heart valve morphology, Small hand, Mitral valve prolapse, High palate, Pulmonic stenosi... ORPHA:2868
Greig Cephalopolysyndactyly Syndrome
Broad hallux phalanx, Broad hallux, 1-3 toe syndactyly, Preaxial hand polydactyly, Postaxial hand... OMIM:175700
Atelosteogenesis Type I
Short femur, Rhizomelia, Malrotation of colon, Abnormal ossification involving the femoral head a... ORPHA:1190
Cat Eye Syndrome
Meckel diverticulum, Anal stenosis, Ventricular septal defect, Intestinal malrotation, Rectal fis... OMIM:115470
Acrofacial Dysostosis 1, Nager Type
Aplasia/Hypoplasia of the thumb, Congenital diaphragmatic hernia, Foot oligodactyly, Triphalangea... OMIM:154400
Pelvis-Shoulder Dysplasia
Aplasia/Hypoplasia of the fibula, Prominent protruding coccyx, Iris coloboma, Dislocated radial h... ORPHA:2839
1Q41Q42 Microdeletion Syndrome
Congenital diaphragmatic hernia, Submucous cleft hard palate, Cleft palate, Talipes equinovarus, ... ORPHA:250999
Thanatophoric Dysplasia Type 1
Bowing of the long bones, Short femur, Micromelia, Hypoplastic ilia, Abnormal sacroiliac joint mo... ORPHA:1860
Proximal 16P11.2 Microdeletion Syndrome
Dextrocardia, Congenital diaphragmatic hernia, Pyloric stenosis, Cleft palate, Abnormal heart mor... ORPHA:261197
Developmental And Epileptic Encephalopathy 25 With Amelogenesis Imperfecta
Delayed eruption of teeth, Hypodontia, Amelogenesis imperfecta OMIM:615905
Coenzyme Q10 Deficiency, Primary, 8
Left ventricular hypertrophy, Flexion contracture, Pulmonary hypoplasia OMIM:616733
Pagod Syndrome
Encephalocele, Abnormal clavicle morphology, Spina bifida, Situs inversus totalis, Meningocele, A... ORPHA:991
Acrocephalopolydactylous Dysplasia
Omphalocele, Hepatomegaly, Hypoplastic colon, Pancreatic fibrosis, Micromelia, Postaxial hand pol... OMIM:200995
Chromosome 15Q25 Deletion Syndrome
Inguinal hernia, Ventricular septal defect, Dextrocardia, Congenital diaphragmatic hernia, Long f... OMIM:614294
Craniosynostosis 2
Cleft soft palate, Craniosynostosis, Unicoronal synostosis, Supernumerary tooth, Bicoronal synost... OMIM:604757
Nasopalpebral Lipoma-Coloboma Syndrome
Hypoplasia of the maxilla, Abnormality of cartilage of external ear, Cupped ear, Bilateral microp... ORPHA:2399
Osteoglophonic Dysplasia
Osteopenia, Delayed eruption of teeth, Mandibular prognathia, Camptodactyly of finger, Craniosyno... OMIM:166250
Trichorhinophalangeal Syndrome, Type I
Osteopenia, Delayed eruption of teeth, Thin upper lip vermilion, Ivory epiphyses of the distal ph... OMIM:190350
Abruzzo-Erickson Syndrome
Toe syndactyly, Short toe, Cleft palate, Ulnar deviation of finger, Coloboma, Radioulnar synostos... ORPHA:921
Incisors, Shovel-Shaped
Shovel-shaped maxillary central incisors OMIM:147400
Temple-Baraitser Syndrome
Broad hallux, Proximal placement of thumb, Adducted thumb, Broad thumb, Gastroesophageal reflux, ... OMIM:611816
Femoral-Facial Syndrome
Short third metatarsal, Short humerus, Short fourth metatarsal, Toe syndactyly, Short fifth metat... OMIM:134780
Meckel Syndrome
Encephalocele, Low-set, posteriorly rotated ears, Anophthalmia, Pancreatic fibrosis, Aplasia/Hypo... ORPHA:564
Spondyloepimetaphyseal Dysplasia, Borochowitz-Cormier-Daire Type
Dysplastic iliac wing, Metaphyseal spurs, Micromelia, Bowing of the legs, Pectus excavatum, Metap... OMIM:608728
Sulfite Oxidase Deficiency, Isolated
Delayed eruption of teeth, Death in infancy, Macrotia OMIM:272300
Char Syndrome
Supernumerary nipple, Persistence of primary teeth, No permanent dentition, Symphalangism of the ... ORPHA:46627
Chromosome 17Q12 Duplication Syndrome
Cleft soft palate, Micrognathia, Esophageal atresia, Microphthalmia, Smooth philtrum OMIM:614526
Bardet-Biedl Syndrome 4
Syndactyly, Abnormality of the dentition, Polydactyly, Brachydactyly OMIM:615982
Microphthalmia, Syndromic 2
Anophthalmia, Anteverted ears, Flexion contracture, Oligodontia, Fused teeth, Contracture of the ... OMIM:300166
Thanatophoric Dysplasia, Type Ii
Ventriculomegaly, Small abnormally formed scapulae, Micromelia, Hypoplastic ilia, Wide-cupped cos... OMIM:187601
Aorto-Ventricular Tunnel
Ventricular hypertrophy, Abnormal coronary artery morphology, Abnormal heart valve morphology, Ao... ORPHA:3400
Toxic Epidermal Necrolysis
Acute hepatic failure, Recurrent respiratory infections, Elevated hepatic transaminase, Gastroint... ORPHA:537
Lethal Omphalocele-Cleft Palate Syndrome
Cleft soft palate, Hydrocephalus, Cleft palate, Unilateral cleft lip, Retrognathia, Bifid uvula ORPHA:2736
Onychodystrophy, Osteodystrophy, Impaired Intellectual Development, And Seizures Syndrome
Micrognathia, Precocious puberty, Delayed eruption of permanent teeth, Narrow mouth, Microdontia,... OMIM:619356
Spondylodysplastic Ehlers-Danlos Syndrome
Multiple joint contractures, Single transverse palmar crease, Metaphyseal widening, Flexion contr... ORPHA:536471
Phosphoribosylaminoimidazole Carboxylase Deficiency
Clinodactyly of the 5th finger, Esophageal atresia, Tracheoesophageal fistula, Talipes equinovarus OMIM:619859
Microphthalmia, Isolated, With Cataract 1
Microphthalmia OMIM:156850
Frontometaphyseal Dysplasia 1
Selective tooth agenesis, Limited elbow movement, Absent frontal sinuses, Knee flexion contractur... OMIM:305620
Supernumerary Nostril
Facial cleft ORPHA:141096
Impacted Teeth, Multiple
Supernumerary tooth, Multiple impacted teeth OMIM:308280
Craniofacial Dysmorphism, Skeletal Anomalies, And Impaired Intellectual Development Syndrome 1
Hyperextensibility of the finger joints, Vertebral fusion, Posteriorly rotated ears, Decreased re... OMIM:213980
Mulibrey Nanism
Dental crowding, Absent frontal sinuses, Enamel hypoplasia, Hypoplastic frontal sinuses, Dental m... OMIM:253250
Weismann-Netter Syndrome
Calvarial hyperostosis, Delayed eruption of permanent teeth OMIM:112350
White Matter Hypoplasia-Corpus Callosum Agenesis-Intellectual Disability Syndrome
Ventriculomegaly, Adducted thumb ORPHA:3207
Joubert Syndrome With Oculorenal Defect
Encephalocele, Hydrocephalus, Hand polydactyly, Foot polydactyly ORPHA:2318
Chromosome 1P36 Deletion Syndrome, Proximal
Bicuspid aortic valve, Ventricular septal defect, Complete atrioventricular canal defect, Patent ... OMIM:619343
Intellectual Disability-Strabismus Syndrome
Rocker bottom foot, Congenital diaphragmatic hernia, Patent ductus arteriosus, Achilles tendon co... ORPHA:363528
Vertebral, Cardiac, Tracheoesophageal, Renal, And Limb Defects
Esophageal atresia, Muscular ventricular septal defect, Submucous cleft hard palate, Tracheoesoph... OMIM:619227
Dysosteosclerosis
Delayed eruption of teeth, Craniofacial hyperostosis, Increased bone mineral density, Abnormal de... ORPHA:1782
Smith-Lemli-Opitz Syndrome
Proximal placement of thumb, Congenital diaphragmatic hernia, Abnormal lung lobation, Gastroesoph... ORPHA:818
Congenital Heart Defects, Multiple Types, 8, With Or Without Heterotaxy
Toe syndactyly, Thoracic aortic aneurysm, Ventricular septal defect, Dextrocardia, Intestinal mal... OMIM:619657
Microcephaly And Chorioretinopathy, Autosomal Recessive, 3
Microphthalmia OMIM:616335
Stickler Syndrome
Abnormal dental enamel morphology, Cleft upper lip, Open bite, Micrognathia, Osteoarthritis, Hypo... ORPHA:828
Deafness, Congenital Heart Defects, And Posterior Embryotoxon
Tetralogy of Fallot, Ventricular septal defect, Peripheral pulmonary artery stenosis OMIM:617992
Joubert Syndrome With Ocular Defect
Encephalocele, Dextrocardia, Hydrocephalus, Hand polydactyly, Foot polydactyly ORPHA:220493
Intellectual Developmental Disorder, Autosomal Dominant 60, With Seizures
Thin upper lip vermilion, Hyperplasia of the maxilla OMIM:618587
Intellectual Disability And Myopathy Syndrome
Thin upper lip vermilion, Achilles tendon contracture, Dental malocclusion, Widely-spaced maxilla... OMIM:619719
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
Developmental And Speech Delay Due To Sox5 Deficiency
Vertebral fusion, Exaggerated median tongue furrow, Dental crowding, Narrow palate, Hyperplasia o... ORPHA:313892
Nephronophthisis 16
Situs inversus totalis, Patent ductus arteriosus, Cholestasis, Periportal fibrosis, Aortic valve ... OMIM:615382
Spina Bifida-Hypospadias Syndrome
Spina bifida, Spinal dysraphism ORPHA:3176
Aortic Valve Disease 2
Bicuspid aortic valve, Patent foramen ovale, Calcification of the aorta, Coarctation of aorta, As... OMIM:614823
Bardet-Biedl Syndrome 10
Polydactyly OMIM:615987
Multiple Pterygium Syndrome, X-Linked
Flexion contracture, Cleft palate, Amyoplasia, Hypoplastic heart, Pulmonary hypoplasia, Short finger OMIM:312150
Aminopterin Syndrome Sine Aminopterin
Syndactyly, Rudimentary postaxial polydactyly of hands, Arachnodactyly, Short thumb, Cleft palate... OMIM:600325
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
Multiple Pterygium Syndrome, Escobar Variant
Multiple joint contractures, Congenital diaphragmatic hernia, Flexion contracture, Knee flexion c... OMIM:265000
Vater/Vacterl Association
Syndactyly, Ventricular septal defect, Absent radius, Short thumb, Patent ductus arteriosus, Hypo... OMIM:192350
Pcna-Related Progressive Neurodegenerative Photosensitivity Syndrome
Congenital diaphragmatic hernia ORPHA:438134
Nanophthalmos
Microphthalmia, Abnormality of retinal pigmentation ORPHA:35612
Aphalangia, Partial, With Syndactyly And Duplication Of Metatarsal Iv
Aplasia/Hypoplasia of toe, Syndactyly, Duplication of metatarsal bones, Cutaneous finger syndactyly OMIM:600384
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7
Encephalocele, Ventriculomegaly, Optic nerve hypoplasia, Hydrocephalus, Microphthalmia, Dandy-Wal... OMIM:614643
Larsen-Like Syndrome, Lethal Type
Tracheomalacia, Pulmonary hypoplasia OMIM:245650
Temtamy Preaxial Brachydactyly Syndrome
Tarsal synostosis, Diastema, Deep philtrum, Talon cusp, Cleft palate, Radioulnar synostosis, Bila... OMIM:605282
Hypomandibular Faciocranial Dysostosis
Death in infancy, Aplasia/Hypoplasia of the tongue, Craniosynostosis, Cleft palate, Low-set ears,... ORPHA:1790
Trichorhinophalangeal Syndrome, Type Iii
Osteopenia, Thin upper lip vermilion, Dental crowding, Supernumerary tooth, Protruding ear, Long ... OMIM:190351
Meckel Syndrome 13
Occipital encephalocele OMIM:617562
Joubert Syndrome 21
Encephalocele, Occipital encephalocele, Anophthalmia, Bell-shaped thorax, Pulmonary hypoplasia, S... OMIM:615636
Ritscher-Schinzel Syndrome 1
Syndactyly, Ventricular septal defect, Hydrocephalus, Double outlet right ventricle, Cleft palate... OMIM:220210
Dislocation Of The Hip-Dysmorphism Syndrome
Prominence of the premaxilla, Hearing abnormality, Joint hyperflexibility, Narrow mouth, Malar fl... ORPHA:2412
Adams-Oliver Syndrome 1
Encephalocele, Toe syndactyly, Bicuspid aortic valve, Ventricular septal defect, Pulmonary artery... OMIM:100300
Coffin-Siris Syndrome 11
Cleft soft palate, Uplifted earlobe, Esophageal atresia, Downturned corners of mouth, Wide mouth,... OMIM:618779
You-Hoover-Fong Syndrome
Cleft palate, Coarctation of aorta, Vascular ring, Clinodactyly, Double aortic arch, Brachydactyly OMIM:616954
Linear Skin Defects With Multiple Congenital Anomalies 1
Overriding aorta, Ventricular septal defect, Single transverse palmar crease, Congenital diaphrag... OMIM:309801
Down Syndrome
Single transverse palmar crease, Short palm, Atrial septal defect, Hypoplastic iliac wing, Atriov... OMIM:190685
Hypotrichosis-Intellectual Disability, Lopes Type
Advanced eruption of teeth ORPHA:2266
Brachydactyly-Syndactyly Syndrome
Syndactyly, Finger syndactyly, Camptodactyly, Short phalanx of finger, Short digit, Oligodactyly,... OMIM:610713
Filippi Syndrome
Cryptorchidism, Thin vermilion border, Short philtrum, Hypodontia, Microdontia, Serrated incisors OMIM:272440
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome
Multiple joint contractures, Metaphyseal widening, High palate, Arachnodactyly, Repeated pneumoth... ORPHA:536467
Joubert Syndrome 2
Encephalocele, Enlarged fossa interpeduncularis, Postaxial hand polydactyly, Hydrocephalus, Posta... OMIM:608091
Hartnup Disorder
Glossitis OMIM:234500
Hypoglossia With Situs Inversus
Micrognathia, High palate, Hypodontia, Low-set ears, Narrow mouth, Microglossia OMIM:612776
Donnai-Barrow Syndrome
Omphalocele, Ventricular septal defect, Intestinal malrotation, Congenital diaphragmatic hernia, ... OMIM:222448
Craniodiaphyseal Dysplasia
Abnormal rib morphology, Diaphyseal thickening ORPHA:1513
Microphthalmia, Syndromic 6
Anophthalmia, Uplifted earlobe, Micrognathia, Adrenal hypoplasia, Protruding ear, High palate, Ab... OMIM:607932
Neurodevelopmental Disorder With Seizures And Gingival Overgrowth
Flexion contracture of toe, Camptodactyly of finger, Ventriculomegaly OMIM:619323
Coach Syndrome 1
Encephalocele, Occipital encephalocele, Postaxial hand polydactyly, Vascular dilatation OMIM:216360
Split Lower Lip
Abnormal lower lip morphology, Lower lip pit, Narrow maxilla, Abnormality of the dentition OMIM:183400
Hyper-Ige Syndrome 4A, Autosomal Dominant, With Recurrent Infections
Persistence of primary teeth, Supernumerary tooth, Increased susceptibility to fractures, High pa... OMIM:619752
Pai Syndrome
Encephalocele, Median cleft lip, Cleft palate, Abnormal oral frenulum morphology, Bifid uvula ORPHA:1993
White Forelock With Malformations
Finger syndactyly, Atrial septal defect, Abnormal rib morphology, Clinodactyly of the 5th finger,... ORPHA:2475
Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency
Delayed eruption of teeth, Micrognathia, Congenital sensorineural hearing impairment, Sensorineur... ORPHA:73272
Biliary, Renal, Neurologic, And Skeletal Syndrome
Secundum atrial septal defect, Primum atrial septal defect, Inlet ventricular septal defect, Hepa... OMIM:619534
Sin3A-Related Intellectual Disability Syndrome Due To A Point Mutation
Clinodactyly, Ventriculomegaly ORPHA:500166
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 1
Atrial septal defect, Anal stenosis, Congenital diaphragmatic hernia, Patent ductus arteriosus, C... OMIM:614080
Tarp Syndrome
Finger syndactyly, Single transverse palmar crease, Rocker bottom foot, Postaxial polydactyly, Cl... ORPHA:2886
Poirier-Bienvenu Neurodevelopmental Syndrome
Mandibular prognathia, Protruding tongue, Downturned corners of mouth, Open mouth, Smooth philtrum OMIM:618732
Chromosome 6Q24-Q25 Deletion Syndrome
Atrial septal defect, Sandal gap, High, narrow palate, Patent ductus arteriosus, Dysplastic tricu... OMIM:612863
Neurodevelopmental Disorder With Poor Growth, Large Ears, And Dysmorphic Facies
Osteopenia, Diabetes mellitus, Micrognathia, High palate, Macrotia, Hyperplasia of the maxilla OMIM:620194
Fetal Akinesia Deformation Sequence
Intestinal hypoplasia, Multiple joint contractures, Camptodactyly of finger, Cleft palate, Genera... ORPHA:994
Achondrogenesis Type 1B
Micromelia, Short thorax, Abnormal rib morphology, Short foot, Aplasia/Hypoplasia of the lungs, N... ORPHA:93298
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 2
Narrow femoral neck, Congenital hip dislocation, Delayed phalangeal epiphyseal ossification, Long... OMIM:603546
Acrocapitofemoral Dysplasia
Micromelia, Short proximal phalanx of thumb, Coxa vara, Pectus carinatum, Narrow chest, Hypoplast... OMIM:607778
Dysosteosclerosis
Osteopenia, Sclerosis of hand bone, Delayed eruption of teeth, Natal tooth, Sclerotic scapulae, M... OMIM:224300
Robinow Syndrome, Autosomal Recessive 2
Posteriorly rotated ears, Cleft soft palate, Abnormality of the dentition, Micrognathia, Gingival... OMIM:618529
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4
Encephalocele, Hydrocephalus, Dilated cardiomyopathy, Myocardial fibrosis, Holoprosencephaly, Tra... OMIM:253800
Loeys-Dietz Syndrome 2
Bicuspid aortic valve, Descending thoracic aorta aneurysm, Bicuspid pulmonary valve, Atrial septa... OMIM:610168
Faciocardiomelic Dysplasia, Lethal
Micrognathia, Narrow mouth, Neonatal death, Microglossia, Retrognathia OMIM:227270
Blepharophimosis-Intellectual Disability Syndrome, Verloes Type
Posteriorly rotated ears, Cleft soft palate, Underdeveloped antitragus, Prominent antihelix, Late... ORPHA:293725
Aortic Aneurysm, Familial Thoracic 4
Cystic medial necrosis, Anterior cerebral artery stenosis, Posterior cerebral artery stenosis, Th... OMIM:132900
49,Xxxxy Syndrome
Delayed eruption of teeth, Mandibular prognathia, Abnormal dental enamel morphology, Open bite, C... ORPHA:96264
Craniosynostosis And Dental Anomalies
Delayed eruption of teeth, Mandibular prognathia, Stapes ankylosis, Dental crowding, Absent malle... OMIM:614188
Humerofemoral Hypoplasia With Radiotibial Ray Deficiency
Hypoplastic scapulae, Bowed humerus, Congenital diaphragmatic hernia, Absent thumb, Elbow flexion... OMIM:618022
Ellis-Van Creveld Syndrome
Delayed eruption of teeth, Natal tooth, Atrial septal defect, Capitate-hamate fusion, Postaxial h... OMIM:225500
Tremor, Hereditary Essential, And Idiopathic Normal Pressure Hydrocephalus
Normal pressure hydrocephalus, Ventriculomegaly OMIM:611808
Arthrogryposis, Distal, Type 5D
Tongue atrophy, Limited elbow movement, Micrognathia, Limited knee flexion, Narrow mouth, Elbow f... OMIM:615065
Septo-Optic Dysplasia Spectrum
Septo-optic dysplasia, Optic nerve hypoplasia, Esophageal atresia, Tracheoesophageal fistula, Cle... ORPHA:3157
Cryptorchidism-Arachnodactyly-Intellectual Disability Syndrome
Recurrent respiratory infections, Arachnodactyly, Pectus carinatum, Aplasia/Hypoplasia of the lun... ORPHA:1548
Holoprosencephaly-Postaxial Polydactyly Syndrome
Encephalocele, Postaxial hand polydactyly, Hydrocephalus, Abnormal lung lobation, Umbilical herni... ORPHA:2166
Odontotrichoungual-Digital-Palmar Syndrome
Mandibular prognathia, Natal tooth, Thick vermilion border, Dental malocclusion OMIM:601957
Weill-Marchesani Syndrome 1
Joint stiffness, Hypoplasia of the maxilla, Microspherophakia, Narrow palate, Tooth malposition, ... OMIM:277600
Syndactyly, Type V
Brachydactyly, Camptodactyly of finger, 4-5 toe syndactyly, 4-5 metacarpal synostosis, Enlarged p... OMIM:186300
Stuve-Wiedemann Syndrome 1
Single transverse palmar crease, Tibial bowing, Femoral bowing, Short tibia, Short phalanx of fin... OMIM:601559
Dyskeratosis Congenita
Neoplasm of the pancreas, Esophageal stenosis, Diabetes mellitus, Recurrent fractures, Hearing im... ORPHA:1775
Kyphoscoliosis-Lateral Tongue Atrophy-Hereditary Spastic Paraplegia Syndrome
Tongue atrophy, Knee flexion contracture ORPHA:496689
Pseudoprogeria Syndrome
Cranium bifidum occultum ORPHA:2985
Hypomelanosis Of Ito
Syndactyly, Thick lower lip vermilion, Irregularly spaced teeth, Hand polydactyly, Radial deviati... OMIM:300337
Hypohidrotic Ectodermal Dysplasia
Sinusitis, Abnormal dental morphology, Abnormality of the dentition, Hypoplasia of the maxilla, X... ORPHA:238468
Recombinant 8 Syndrome
Camptodactyly of finger, Hearing impairment, Cleft upper lip, Abnormality of the dentition, Micro... ORPHA:96167
Diastrophic Dysplasia
Abnormal clavicle morphology, Bowing of the long bones, Recurrent respiratory infections, Camptod... ORPHA:628
Retinal Degeneration-Nanophthalmos-Glaucoma Syndrome
Microphthalmia, Abnormality of retinal pigmentation ORPHA:1574
Zttk Syndrome
Absent gallbladder, Ventriculomegaly, Craniosynostosis, Abnormality of the dentition, Hypoplasia ... OMIM:617140
Multiple Pterygium Syndrome, Lethal Type
Flexion contracture, Cleft palate, Amyoplasia, Hypoplastic heart, Pulmonary hypoplasia, Short finger OMIM:253290
Gorham-Stout Disease
Osteopenia, Abnormality of the temporomandibular joint, Osteomyelitis, Osteolysis involving bones... ORPHA:73
Femoral-Facial Syndrome
Short femur, Abnormal rib morphology, Rib fusion, Abnormal fibula morphology, Coxa vara, Abnormal... ORPHA:1988
Fallot Complex-Intellectual Disability-Growth Delay Syndrome
Overriding aorta, Single transverse palmar crease, Patent ductus arteriosus, 2-3 toe syndactyly, ... ORPHA:3304
Microcephaly, Facial Dysmorphism, Renal Agenesis, And Ambiguous Genitalia Syndrome
Overlapping toe, Hypoplastic right heart, Postaxial polydactyly, Ventricular septal defect, Paten... OMIM:618142
Masa Syndrome
Hydrocephalus, Talipes equinovarus, Ventriculomegaly, Adducted thumb OMIM:303350
Codas Syndrome
Delayed eruption of teeth, Abnormal dental morphology, Abnormal dental enamel morphology, Sensori... ORPHA:1458
Isotretinoin-Like Syndrome
Inguinal hernia, Bicuspid aortic valve, Patent ductus arteriosus, Abnormal cardiac ventricle morp... ORPHA:2306
Trisomy 18
Omphalocele, Ventricular septal defect, Camptodactyly of finger, Congenital diaphragmatic hernia,... ORPHA:3380
Kleefstra Syndrome 1
Mandibular prognathia, Natal tooth, Abnormal pinna morphology, Protruding tongue, Persistence of ... OMIM:610253
Amyotrophic Lateral Sclerosis-Parkinsonism/Dementia Complex 1
Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis OMIM:105500
Split-Hand/Foot Malformation 6
Finger syndactyly, Toe syndactyly, Split hand, Hand oligodactyly, Split foot, Foot oligodactyly OMIM:225300
Joubert Syndrome 20
Molar tooth sign on MRI, 4-5 toe syndactyly, Postaxial polydactyly OMIM:614970
Orofaciodigital Syndrome Type 4
Abnormal oral mucosa morphology, Micrognathia, High, narrow palate, Abnormality of the gingiva, A... ORPHA:2753
Ectodermal Dysplasia/Short Stature Syndrome
Delayed eruption of teeth, Esophageal stricture, Sensorineural hearing impairment, Hypodontia, En... OMIM:616029
Ectodermal Dysplasia With Natal Teeth, Turnpenny Type
Natal tooth, Cranial hyperostosis, Hypoplastic sweat glands, Oligodontia, Hypodontia OMIM:601345
Mucopolysaccharidosis, Type Ix
Submucous cleft hard palate, Synovitis, Hyperextensibility at wrists, Recurrent otitis media, Fin... OMIM:601492
Fryns Syndrome
Ectopic pancreatic tissue, Single transverse palmar crease, Proximal placement of thumb, Atrial s... OMIM:229850
Chromosome 18Q Deletion Syndrome
Recurrent respiratory infections, Inguinal hernia, Toe syndactyly, Overlapping toe, Rocker bottom... OMIM:601808
Tetrasomy 5P
Recurrent respiratory infections, Overlapping toe, Short hallux, Pectus excavatum, Long fingers, ... ORPHA:3309
Autosomal Dominant Hyper-Ige Syndrome
Osteopenia, Delayed eruption of teeth, Osteomyelitis, Recurrent fractures, Craniosynostosis, Abno... ORPHA:2314
Brachydactyly, Type B1
Type B brachydactyly, Syndactyly, Ventricular septal defect, Aplasia/Hypoplasia of the distal pha... OMIM:113000
Xk Aprosencephaly Syndrome
Abnormal morphology of the radius, Ventricular septal defect, Polyhydramnios, Atrial septal defec... ORPHA:3469
Orofaciodigital Syndrome Vi
Tibial bowing, Lobulated tongue, High palate, Accessory oral frenulum, Cleft upper lip, Hamartoma... OMIM:277170
Mandibuloacral Dysplasia
Dental crowding, Micrognathia, Abnormally large globe, Abnormal tongue morphology, Insulin-resist... ORPHA:2457
Fibrochondrogenesis 2
Thoracic hypoplasia, Hypoplastic ilia, Cupped ribs, Metaphyseal widening, Hypoplastic pubic bone,... OMIM:614524
Ophthalmoplegia, Progressive, With Scrotal Tongue And Mental Deficiency
Furrowed tongue OMIM:165150
13Q12.3 Microdeletion Syndrome
Recurrent respiratory infections, Congenital diaphragmatic hernia, Hip dysplasia, Camptodactyly, ... ORPHA:412035
Dysplastic Cortical Hyperostosis, Kozlowski-Tsuruta Type
Hepatomegaly, Splenomegaly, Abnormal limb bone morphology, Aplasia/Hypoplasia of the lungs, Limb ... ORPHA:2204
Meier-Gorlin Syndrome 3
Microretrognathia, Absent sternal ossification, Posteriorly rotated ears, Micrognathia, Hypoplasi... OMIM:613803
Acrorenal-Mandibular Syndrome
Hypoplasia of the ulna, Toe syndactyly, Hypoplastic scapulae, Congenital diaphragmatic hernia, Sp... OMIM:200980
Microcephaly-Cardiomyopathy Syndrome
Ventricular septal defect, Sandal gap, Dilated cardiomyopathy, Clinodactyly of the 5th finger, Ve... ORPHA:2515
Focal Dermal Hypoplasia
Congenital hip dislocation, Anophthalmia, Osteopathia striata, Short metatarsal, Anteriorly place... OMIM:305600
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities
Mandibular prognathia, Precocious puberty, Insulin-resistant diabetes mellitus, Hyperinsulinemia,... OMIM:262190
Apert Syndrome
Mandibular prognathia, Limited elbow movement, Delayed epiphyseal ossification, Chronic otitis me... OMIM:101200
Bardet-Biedl Syndrome 16
Bronchiolitis, Recurrent respiratory infections, Polydactyly OMIM:615993
Ventriculomegaly And Arthrogryposis
Hand clenching, Ulnar deviation of the wrist, Talipes equinovarus, Ventriculomegaly OMIM:619501
Saethre-Chotzen Syndrome
Hypoplasia of the maxilla, Prominent crus of helix, Cleft of chin, Narrow palate, Cleft palate, B... OMIM:101400
Prune Belly Syndrome
Recurrent respiratory infections, Congenital hip dislocation, Ventricular septal defect, Intestin... ORPHA:2970
Neu-Laxova Syndrome 1
Micromelia, Calcaneovalgus deformity, Patent foramen ovale, Dandy-Walker malformation, Finger syn... OMIM:256520
Joubert Syndrome With Renal Defect
Encephalocele, Hydrocephalus, Hand polydactyly ORPHA:220497
46,Xx Sex Reversal 5
Secundum atrial septal defect, Hypoplastic left heart, Ventricular septal defect, Aplasia of the ... OMIM:618901
Poland Syndrome
Syndactyly, Unilateral oligodactyly, Dextrocardia, Unilateral brachydactyly, Rib fusion, Short ri... OMIM:173800
Autosomal Recessive Multiple Pterygium Syndrome
Finger syndactyly, Skeletal muscle atrophy, Inguinal hernia, Camptodactyly of finger, Aplasia/Hyp... ORPHA:2990
Vitamin D-Dependent Rickets, Type 2A
Delayed eruption of teeth, Recurrent fractures, Carious teeth, Delayed epiphyseal ossification, R... OMIM:277440
Alg9-Cdg
Villous atrophy, Abnormal lung lobation, Right ventricular dilatation, Narrow greater sciatic not... ORPHA:79328
Adams-Oliver Syndrome 5
Syndactyly, Brachydactyly, Inguinal hernia, Portal vein thrombosis, Hypersplenism, Splenomegaly, ... OMIM:616028
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type
Short palm, Rhizomelia, Metaphyseal chondrodysplasia, Abnormality of the calcaneus, Hydrocephalus... ORPHA:163966
Meier-Gorlin Syndrome 7
2-4 finger syndactyly, Anal stenosis, Ventricular septal defect, Bowing of the legs, Aplasia/Hypo... OMIM:617063
22Q11.2 Deletion Syndrome
Abnormal lung lobation, Abnormal aortic arch morphology, Atrial septal defect, Arachnodactyly, Sp... ORPHA:567
Slc35A2-Cdg
Camptodactyly of finger, Abnormality of the hand, Coxa valga, Metatarsus adductus, Abnormal midbr... ORPHA:356961
Marshall-Smith Syndrome
Craniosynostosis, Protruding tongue, Gingival overgrowth, Increased susceptibility to fractures, ... ORPHA:561
Fetal Alcohol Syndrome
Atrial septal defect, Microphthalmia, Cleft palate, Congenital diaphragmatic hernia ORPHA:1915
Inclusion Body Myopathy With Paget Disease Of Bone And Frontotemporal Dementia
Abnormal long bone morphology, Cardiomyopathy, Amyotrophic lateral sclerosis, Abnormal motor neur... ORPHA:52430
Laurin-Sandrow Syndrome
Aplasia/Hypoplasia of the thumb, Finger syndactyly, Toe syndactyly, Tarsal synostosis, Absent rad... ORPHA:2378
8P Inverted Duplication/Deletion Syndrome
Micrognathia, Precocious puberty, High, narrow palate, Macrotia, Cryptorchidism, Abnormality of d... ORPHA:96092
Aplasia Cutis Congenita
Finger syndactyly, Toe syndactyly, Spinal dysraphism ORPHA:1114
Joubert Syndrome 32
Postaxial foot polydactyly, Hypertrophic cardiomyopathy, Postaxial hand polydactyly, Molar tooth ... OMIM:617757
Marfanoid Habitus With Situs Inversus
Hyperextensibility of the finger joints, Arachnodactyly, Situs inversus totalis, Mitral valve pro... OMIM:609008
Simpson-Golabi-Behmel Syndrome, Type 1
Congenital diaphragmatic hernia, Abnormal lung lobation, Narrow greater sciatic notch, Short palm... OMIM:312870
Pulmonic Stenosis And Deafness
Ventricular hypertrophy, Pulmonic stenosis OMIM:178651
Trichorhinophalangeal Syndrome Type 1
Camptodactyly of finger, Abnormality of the dentition, Micrognathia, Supernumerary tooth, Protrud... ORPHA:77258
White-Sutton Syndrome
Facial hypotonia, Optic nerve hypoplasia, Congenital diaphragmatic hernia, Patent ductus arterios... OMIM:616364
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
Thin upper lip vermilion, Ventriculomegaly, Stapes ankylosis, Intestinal malrotation, Velopharyng... OMIM:614701
Brachytelephalangic Chondrodysplasia Punctata
Mixed hearing impairment, Calcaneal epiphyseal stippling, Optic disc hypoplasia, Optic nerve hypo... ORPHA:79345
Ritscher-Schinzel Syndrome 2
Syndactyly, Atrial septal defect, Broad hallux, Overlapping toe, Camptodactyly of finger, Ventric... OMIM:300963
Lethal Intrauterine Growth Restriction-Cortical Malformation-Congenital Contractures Syndrome
Camptodactyly of finger, Abnormal pleura morphology, Aplasia/Hypoplasia of the lungs, Enlarged th... ORPHA:2570
Feingold Syndrome Type 1
Toe syndactyly, Jejunal atresia, Tricuspid stenosis, Short middle phalanx of the 2nd finger, Shor... ORPHA:391641
Neurodevelopmental Disorder With Central And Peripheral Motor Dysfunction
Hyperextensibility of the finger joints, Glossoptosis, Cleft palate, Micrognathia OMIM:618356
Fibrous Dysplasia Of Bone
Thyroid carcinoma, Patchy reduction of bone mineral density, Cortical irregularity, Hyperthyroidi... ORPHA:249
48,Xxxy Syndrome
Delayed eruption of teeth, Mandibular prognathia, Abnormal dental enamel morphology, Open bite, C... ORPHA:96263
Genitopatellar Syndrome
Hip contracture, Hypoplastic ilia, Patellar aplasia, Knee flexion contracture, Radioulnar synosto... ORPHA:85201
Brachydactyly Type B
Type B brachydactyly, Finger syndactyly, Short metacarpal, 2nd-5th toe middle phalangeal hypoplas... ORPHA:93383
Odontomicronychial Dysplasia
Carious teeth, Premature eruption of permanent teeth, Premature loss of primary teeth, Abnormalit... ORPHA:1811
Polydactyly, Postaxial, Type A8
Postaxial polydactyly, Genu valgum OMIM:618123
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 1
Absence of Stensen duct, Selective tooth agenesis, Decreased response to growth hormone stimulati... OMIM:129900
Hall-Riggs Syndrome
Delayed eruption of teeth, Abnormal dental enamel morphology, Joint stiffness, Downturned corners... ORPHA:2107
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14
Single transverse palmar crease, Abnormal aortic arch morphology, Tibial bowing, Narrow chest, Hy... ORPHA:96334
Rhizomelic Syndrome, Urbach Type
Brachydactyly, Rhizomelia, Abnormality of the humerus, Preaxial hand polydactyly, Abnormality of ... ORPHA:3098
Hallermann-Streiff Syndrome
Natal tooth, Selective tooth agenesis, Spina bifida, Micrognathia, High, narrow palate, Supernume... OMIM:234100
Tricho-Retino-Dento-Digital Syndrome
Oligodontia, Supernumerary tooth, Abnormality of the dentition ORPHA:1264
Non-Syndromic Posterior Hypospadias
Omphalocele, Congenital diaphragmatic hernia, Esophageal atresia, Cleft palate, Anal atresia ORPHA:95706
Rhizomelic Syndrome
Rhizomelia, Bifid distal phalanx of the thumb, Hip dislocation, Pulmonic stenosis, Complete dupli... OMIM:268250
Cutis Laxa, Autosomal Recessive, Type Ib
Inguinal hernia, Arachnodactyly, Congenital diaphragmatic hernia, Arterial tortuosity, Emphysema,... OMIM:614437
Weill-Marchesani Syndrome 2
Joint stiffness, Hypoplasia of the maxilla, Microspherophakia, Elbow flexion contracture, Narrow ... OMIM:608328
Sirenomelia
Aplasia/Hypoplasia of the radius, Tracheoesophageal fistula, Anal atresia, Sirenomelia ORPHA:3169
Bloom Syndrome
Cryptorchidism, Agenesis of maxillary lateral incisor, Protruding ear, Type II diabetes mellitus,... OMIM:210900
Agnathia-Holoprosencephaly-Situs Inversus Syndrome
Low-set, posteriorly rotated ears, Holoprosencephaly, Narrow mouth, Mandibular aplasia, Microglos... ORPHA:990
Achondrogenesis Type 1A
Multiple rib fractures, Micromelia, Short thorax, Short foot, Aplasia/Hypoplasia of the lungs, Na... ORPHA:93299
Seckel Syndrome 2
Microdontia, Microphthalmia, Microglossia, Micrognathia OMIM:606744
Microphthalmia/Coloboma And Skeletal Dysplasia Syndrome
Anophthalmia, Rhizomelia, 2-3 toe syndactyly, Coloboma, Long philtrum, Microphthalmia, 3-4 finger... OMIM:615877
Desmosterolosis
Low-set, posteriorly rotated ears, Increased bone mineral density, Intestinal malrotation, Microg... ORPHA:35107
Developmental Delay With Or Without Dysmorphic Facies And Autism
Omphalocele, Inguinal hernia, Ventricular septal defect, Congenital diaphragmatic hernia, Patent ... OMIM:618454
Endosteal Hyperostosis, Worth Type
Abnormal rib morphology, Diaphyseal thickening, Clavicular sclerosis ORPHA:2790
Holoprosencephaly 1
Median cleft lip and palate, Alobar holoprosencephaly, Facial cleft, Microphthalmia, Cyclopia, Et... OMIM:236100
Orofaciodigital Syndrome Xi
Cleft palate, Postaxial polydactyly OMIM:612913
Intellectual Disability-Facial Dysmorphism-Hand Anomalies Syndrome
Thin upper lip vermilion, Brachydactyly, Single transverse palmar crease, Bifid distal phalanx of... ORPHA:370010
X-Linked Intellectual Disability Due To Gria3 Mutations
Joint laxity, Mandibular prognathia, Uplifted earlobe, Cryptorchidism, Narrow palate, Short upper... ORPHA:364028
Tooth Agenesis, Selective, 3
Microdontia, Oligodontia of primary teeth, Agenesis of permanent molar, Oligodontia OMIM:604625
Primary Lateral Sclerosis, Juvenile
Abnormal upper motor neuron morphology OMIM:606353
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
Axenfeld-Rieger Syndrome, Type 1
Thin upper lip vermilion, Anal stenosis, Rieger anomaly, Decreased response to growth hormone sti... OMIM:180500
Williams Syndrome
Bicuspid aortic valve, Abnormal cerebral vascular morphology, Cardiomegaly, Rectal prolapse, Gast... ORPHA:904
Grange Syndrome
Aortic regurgitation, Syndactyly, Ventricular septal defect, Patent ductus arteriosus, Hypertensi... ORPHA:79094
Beare-Stevenson Cutis Gyrata Syndrome
Natal tooth, Posteriorly rotated ears, Craniosynostosis, Hydrocephalus, Gingival overgrowth, Narr... OMIM:123790
Frontonasal Dysplasia-Alopecia-Genital Anomalies Syndrome
Encephalocele, Microphthalmia ORPHA:228390
Oligomeganephronia
Secundum atrial septal defect, Pulmonary venous occlusion, Pulmonary hypoplasia, Congenital diaph... ORPHA:2260
Basel-Vanagaite-Smirin-Yosef Syndrome
Tented upper lip vermilion, Uplifted earlobe, Cleft palate, Furrowed tongue, High palate, Short p... OMIM:616449
Pseudohypoparathyroidism, Type Ia
Delayed eruption of teeth, Osteoporosis, Pseudohypoparathyroidism, Subcutaneous ossification, Ele... OMIM:103580
Moebius Syndrome
Syndactyly, Brachydactyly, Abnormality of the dentition, Microphthalmia, Split hand, Abnormal pel... OMIM:157900
Intellectual Disability-Dysmorphism-Hypogonadism-Diabetes Mellitus Syndrome
Mandibular prognathia, Elevated circulating luteinizing hormone level, Hypoplasia of the maxilla,... ORPHA:3044
Eiken Syndrome
Broad femoral neck, Persistence of primary teeth, Delayed epiphyseal ossification, Multiple uneru... OMIM:600002
Developmental And Epileptic Encephalopathy 80
Death in infancy, Ventriculomegaly, Tented upper lip vermilion, Posteriorly rotated ears, Abnorma... OMIM:618580
Joubert Syndrome 39
Occipital encephalocele, Hypoplastic left heart, Joint contracture of the 5th finger, Postaxial p... OMIM:619562
Pelger-Huet Anomaly
Ventricular septal defect, Abnormality of the dentition, Upper limb undergrowth, Gingival overgro... OMIM:169400
Intellectual Developmental Disorder With Microcephaly And With Or Without Ocular Malformations Or Hypogonadotropic Hypogonadism
Delayed eruption of teeth, Posteriorly rotated ears, Decreased response to growth hormone stimula... OMIM:615866
Arthrogryposis, Distal, Type 3
Decreased hip abduction, Camptodactyly of finger, Micrognathia, Cryptorchidism, Submucous cleft h... OMIM:114300
Orofaciodigital Syndrome Type 6
Low-set, posteriorly rotated ears, Hamartoma of tongue, Micrognathia, Bilateral cryptorchidism, M... ORPHA:2754
Usher Syndrome Type 1
Abnormal cochlea morphology, Sensorineural hearing impairment, Vestibular hypofunction, Abnormal ... ORPHA:231169
Peroxisome Biogenesis Disorder 1A (Zellweger)
Intrahepatic biliary dysgenesis, Hepatomegaly, Ulnar deviation of the hand, Ventricular septal de... OMIM:214100
Smith-Magenis Syndrome
Mandibular prognathia, Tented upper lip vermilion, Delayed eruption of primary teeth, Cleft upper... ORPHA:819
Anti-Glomerular Basement Membrane Disease
Arthritis, Persistence of primary teeth ORPHA:375
Osteopathia Striata With Cranial Sclerosis
Dental crowding, Micrognathia, Partial agenesis of the corpus callosum, Craniofacial osteoscleros... OMIM:300373
Hallermann-Streiff Syndrome
Natal tooth, Recurrent fractures, Abnormality of the dentition, Micrognathia, High, narrow palate... ORPHA:2108
Sotos Syndrome
Joint laxity, Mandibular prognathia, Posteriorly rotated ears, High, narrow palate, Conductive he... OMIM:117550
Cole-Carpenter Syndrome
Delayed eruption of teeth, Communicating hydrocephalus, Abnormal dental enamel morphology, Recurr... ORPHA:2050
Intestinal Pseudoobstruction With Patent Ductus Arteriosus And Natal Teeth
Natal tooth OMIM:243185
Teeth Present At Birth
Natal tooth OMIM:187050
Orofaciodigital Syndrome Type 1
Micrognathia, Reduced bone mineral density, Lobulated tongue, High palate, Chronic otitis media, ... ORPHA:2750
Momo Syndrome
Delayed eruption of teeth, Underfolded helix, Thick lower lip vermilion, Dental malocclusion, Tau... OMIM:157980
Tetrasomy 15Q26
Arachnodactyly, Patent ductus arteriosus, Hypoplastic aortic arch, High palate, Camptodactyly, At... OMIM:614846
Rutherfurd Syndrome
Failure of eruption of permanent teeth, Delayed eruption of primary teeth OMIM:180900
Melanocytic Nevus Syndrome, Congenital
Prominence of the premaxilla, Deep philtrum, Everted lower lip vermilion, Long philtrum, Open mouth OMIM:137550
Craniofacial Microsomia 1
Occipital encephalocele, Anophthalmia, Micrognathia, Hypoplasia of the maxilla, Anotia, Conductiv... OMIM:164210
Familial Isolated Hypoparathyroidism
Delayed eruption of teeth, Abnormal circulating calcium-phosphate regulating hormone concentratio... ORPHA:2238
Trichothiodystrophy 3, Photosensitive
Natal tooth, Carious teeth, Pyloric stenosis, Bilateral cryptorchidism, Low-set ears, Eclabion, M... OMIM:616395
Iniencephaly
Encephalocele, Rhizomelia, Rocker bottom foot, Spina bifida, Hydrocephalus, Myelomeningocele, Ane... ORPHA:63259
Monosomy 9Q22.3
Delayed eruption of teeth, Odontogenic keratocysts of the jaw, Ovarian fibroma, Hydrocephalus, Or... ORPHA:77301
Atrial Septal Defect 7 With Or Without Atrioventricular Conduction Defects
Ventricular septal defect, Left ventricular hypertrophy, Secundum atrial septal defect, Subvalvul... OMIM:108900
Congenital Toxoplasmosis
Abnormality of retinal pigmentation, Cardiomegaly, Hydrocephalus, Microphthalmia, Ascites ORPHA:858
Vertebral Hypersegmentation And Orofacial Anomalies
Supernumerary nipple, Micrognathia, Submucous cleft hard palate, Unilateral cleft lip, Darwin tub... OMIM:619122
Metaphyseal Dysostosis, Impaired Intellectual Development, And Conductive Deafness
Metaphyseal dysplasia, Brachydactyly, Irregular iliac crest, Cupped ribs, Metaphyseal widening, F... OMIM:250420
Blepharocheilodontic Syndrome 1
Cleft upper lip, Conical tooth, Cutaneous syndactyly, Neural tube defect, Hypodontia, Clinodactyl... OMIM:119580
Myhre Syndrome
Mandibular prognathia, Vertebral fusion, Thin upper lip vermilion, Joint stiffness, Hypoplasia of... OMIM:139210
Fanconi Anemia, Complementation Group L
Absent thumb, Absent radius, Esophageal atresia, Tracheoesophageal fistula, Cleft palate, Bilater... OMIM:614083
Mosaic Trisomy 14
Camptodactyly of finger, Abnormal rib morphology, Narrow chest, Aplasia/Hypoplasia affecting the ... ORPHA:1703
Congenital Disorder Of Glycosylation, Type Iig
Osteopenia, Smooth philtrum, Thin upper lip vermilion, Posteriorly rotated ears, Micrognathia, Cr... OMIM:611209
Juberg-Hayward Syndrome
Toe syndactyly, Short thumb, Hypoplasia of the radius, Abnormal finger morphology, Abnormality of... ORPHA:2319
Pseudohypoparathyroidism, Type Ic
Delayed eruption of teeth, Elevated circulating thyroid-stimulating hormone concentration, Osteop... OMIM:612462
Uruguay Faciocardiomusculoskeletal Syndrome
Posteriorly rotated ears, Limited elbow movement, Retrognathia, Thick vermilion border, Everted l... OMIM:300280
Craniofacial Anomalies And Anterior Segment Dysgenesis Syndrome
Hypoplasia of the iris, Hydrocephalus, Nasofrontal encephalocele, Ventriculomegaly OMIM:614195
Short-Rib Thoracic Dysplasia 16 With Or Without Polydactyly
Short metacarpal, Brachydactyly, Sandal gap, Postaxial polydactyly, Short thorax, Short metatarsa... OMIM:617102
Hennekam Lymphangiectasia-Lymphedema Syndrome 2
Syndactyly, Irregular dentition, Pericardial lymphangiectasia, Lymphedema, Narrow mouth, Intestin... OMIM:616006
Congenital Myopathy 17
Diaphragmatic eventration, Overlapping toe, Tapered finger, Respiratory tract infection, Cleft pa... OMIM:618975
Melnick-Needles Syndrome
Delayed eruption of teeth, Recurrent respiratory infections, Bowing of the long bones, Coxa valga... ORPHA:2484
Ectodermal Dysplasia-Syndactyly Syndrome 2
Syndactyly, Thin upper lip vermilion, Cardiomegaly, Palmoplantar keratoderma, Enamel hypoplasia OMIM:613576
Cornelia De Lange Syndrome 1
Single transverse palmar crease, Micromelia, Proximal placement of thumb, Congenital diaphragmati... OMIM:122470
Halperin-Birk Syndrome
Inguinal hernia, Congenital diaphragmatic hernia, Flexion contracture, Hip dislocation, Pseudobul... OMIM:618651
Steroid Dehydrogenase Deficiency-Dental Anomalies Syndrome
Supernumerary tooth, Abnormal dental enamel morphology, Enamel hypoplasia ORPHA:3196
Igg4-Related Aortitis
Intestinal obstruction, Thoracic aortic aneurysm, Abnormal aortic arch morphology, Ascending tubu... ORPHA:449400
Suleiman-El-Hattab Syndrome
Thin upper lip vermilion, Ventricular septal defect, Single transverse palmar crease, Thick lower... OMIM:618950
Penile Agenesis
Ventricular septal defect, Rectal fistula, Anorectal anomaly, Tracheoesophageal fistula, Bilatera... ORPHA:49
Kleefstra Syndrome
Delayed eruption of teeth, Mandibular prognathia, Tented upper lip vermilion, Exaggerated cupid's... ORPHA:261494
Diaphanospondylodysostosis
Missing ribs, Bell-shaped thorax, Narrow pelvis bone, Hammertoe, Talipes equinovarus, Pulmonary h... OMIM:608022
Thumb Deformity-Alopecia-Pigmentation Anomaly Syndrome
Finger syndactyly, Abnormal dental morphology, Camptodactyly of finger, Short thumb, Palmoplantar... ORPHA:2251
Hypermethioninemia Due To Adenosine Kinase Deficiency
Skeletal muscle atrophy, Secundum atrial septal defect, Elevated circulating alanine aminotransfe... OMIM:614300
Hennekam Lymphangiectasia-Lymphedema Syndrome 1
Rectal prolapse, Conical incisor, Oligodontia, Protein-losing enteropathy, Conductive hearing imp... OMIM:235510
Curry-Jones Syndrome
Finger syndactyly, Toe syndactyly, Intestinal malrotation, Abnormality of thumb phalanx, Preaxial... ORPHA:1553
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 4
Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis OMIM:616439
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 3
Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis OMIM:616437
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate Syndrome
Delayed eruption of teeth, Abnormal dental enamel morphology, Supernumerary nipple, Conical tooth... ORPHA:1071
Rothmund-Thomson Syndrome, Type 2
Delayed eruption of teeth, Mandibular prognathia, Underfolded helix, Micrognathia, Cryptorchidism... OMIM:268400
Congenital Heart Defects, Dysmorphic Facial Features, And Intellectual Developmental Disorder
Smooth philtrum, Thin upper lip vermilion, Short lingual frenulum, Posteriorly rotated ears, Narr... OMIM:617360
Fgfr2-Related Bent Bone Dysplasia
Osteopenia, Natal tooth, Overfolding of the superior helices, Micrognathia, Gingival overgrowth, ... ORPHA:313855
Brachydactyly Type B2
Type B brachydactyly, Finger syndactyly, Short toe, Symphalangism affecting the phalanges of the ... ORPHA:140908
Epiphyseal Dysplasia-Hearing Loss-Dysmorphism Syndrome
Finger syndactyly, Proximal placement of thumb, Abnormal thumb morphology, Deep philtrum, Wide mo... ORPHA:1825
Neu-Laxova Syndrome
Osteopenia, Ventriculomegaly, Abnormality of the philtrum, Osteomalacia, Spina bifida, Micrognath... ORPHA:2671
Developmental And Epileptic Encephalopathy 41
Delayed eruption of teeth, Flexion contracture OMIM:617105
Microphthalmia, Syndromic 16
Microphthalmia, Anophthalmia OMIM:611038
3C Syndrome
High, narrow palate, Abnormal tricuspid valve morphology, Gastroesophageal reflux, Atrial septal ... ORPHA:7
Craniolenticulosutural Dysplasia
Osteopenia, Joint laxity, Delayed eruption of teeth, Thin upper lip vermilion, Carious teeth, Cry... OMIM:607812
Acalvaria
Spina bifida, Postaxial hand polydactyly, Hydrocephalus, Cleft palate, Holoprosencephaly ORPHA:945
Congenital Sialidosis Type 2
Hypoplasia of the fovea, Abnormal EKG, Edema, Protruding tongue, Hydrocephalus, Gingival overgrow... ORPHA:93400
Noonan Syndrome 12
11 pairs of ribs, Ventricular septal defect, Proximal placement of thumb, Pectus excavatum, Tetra... OMIM:618624
Robin Sequence With Distinctive Facial Appearance And Brachydactyly
Exaggerated median tongue furrow, Tented upper lip vermilion, Exaggerated cupid's bow, Posteriorl... OMIM:608670
Osteogenesis Imperfecta
Micromelia, Abnormal tibia morphology, Abnormal femur morphology, Femoral bowing, Abnormal long b... ORPHA:666
Diamond-Blackfan Anemia 10
Ventricular septal defect, Congenital diaphragmatic hernia, Morgagni diaphragmatic hernia, Patent... OMIM:613309
Pelvis-Shoulder Dysplasia
Congenital hip dislocation, Hypoplastic scapulae, Hypoplastic ilia, Hypoplastic acetabulae, Short... OMIM:169550
Proboscis Lateralis
Aplasia/Hypoplasia of the maxilla, Anophthalmia, Optic nerve hypoplasia, Abnormal paranasal sinus... ORPHA:141099
Cerebrocostomandibular Syndrome
Anal stenosis, Calcaneal epiphyseal stippling, Cleft soft palate, Posteriorly rotated ears, Micro... OMIM:117650
6P22 Microdeletion Syndrome
Finger syndactyly, Patent ductus arteriosus, Hydrocephalus, Clinodactyly, Abnormal palate morphology ORPHA:251046
Three M Syndrome 2
Delayed eruption of teeth, Dental malocclusion, Protruding ear, Thick vermilion border, High pala... OMIM:612921
Pseudoachondroplasia
Spatulate ribs, Delayed epiphyseal ossification, Metaphyseal widening, Fragmented, irregular epip... OMIM:177170
Loeys-Dietz Syndrome 1
Atrial septal defect, Arachnodactyly, Bicuspid aortic valve, Eosinophilic infiltration of the eso... OMIM:609192
Oculoauriculovertebral Spectrum With Radial Defects
Aplasia/Hypoplasia of the thumb, Preaxial hand polydactyly, Cleft palate, Aplasia/Hypoplasia of t... ORPHA:2549
Ectodermal Dysplasia With Adrenal Cyst
Delayed eruption of teeth, Breast hypoplasia, Hypoplastic nipples, Abnormality of the endocrine s... OMIM:129550
Spastic Paralysis, Infantile-Onset Ascending
Abnormal lower motor neuron morphology OMIM:607225
Diamond-Blackfan Anemia 16
Atrial septal defect, Pulmonic stenosis OMIM:617408
Frontonasal Dysplasia 2
Encephalocele, Tessier number 13 facial cleft, Conical tooth, Widely spaced teeth, Microphthalmia... OMIM:613451
Deafness, Congenital, With Inner Ear Agenesis, Microtia, And Microdontia
Micrognathia, Conical tooth, Anteverted ears, Aplasia of the inner ear, Widely spaced teeth, Micr... OMIM:610706
Hypoparathyroidism-Retardation-Dysmorphism Syndrome
Thin upper lip vermilion, Posteriorly rotated ears, Decreased response to growth hormone stimulat... OMIM:241410
Cleft Palate, Cardiac Defects, And Impaired Intellectual Development
Thin upper lip vermilion, Short 2nd finger, Sandal gap, Broad hallux, Tented upper lip vermilion,... OMIM:600987
Cat-Eye Syndrome
Microphthalmia, Hip dysplasia, Abnormal rib morphology ORPHA:195
Thoracolaryngopelvic Dysplasia
Metaphyseal widening, Irregular chondrocostal junctions, Bell-shaped thorax, Narrow pelvis bone, ... OMIM:187760
Familial Scaphocephaly Syndrome, Mcgillivray Type
Broad hallux phalanx, Toe syndactyly, Ventriculomegaly ORPHA:168624
Deafness-Craniofacial Syndrome
Short lingual frenulum, Abnormality of the dentition, Sensorineural hearing impairment, Short phi... ORPHA:3241
20Q13.33 Microdeletion Syndrome
Hallux valgus, Dilation of Virchow-Robin spaces, Facial hypotonia, Tapered finger, Abnormal cardi... ORPHA:261311
Cebalid Syndrome
High palate, Congenital diaphragmatic hernia OMIM:618774
Branchiootic Syndrome 1
Branchial fistula, Mixed hearing impairment, Dilatated internal auditory canal, Sensorineural hea... OMIM:602588
Isolated Klippel-Feil Syndrome
Ventricular septal defect, Spina bifida, Abnormal rib morphology, Abnormal shoulder morphology, S... ORPHA:2345
Microphthalmia, Isolated 5
Microphthalmia, Bone spicule pigmentation of the retina, Cystoid macular edema OMIM:611040
Short Syndrome
Joint laxity, Delayed eruption of teeth, Rieger anomaly, Micrognathia, Sensorineural hearing impa... OMIM:269880
Griscelli Syndrome
Encephalocele, Hydrocephalus ORPHA:381
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 3
Anal stenosis, Absence of Stensen duct, Selective tooth agenesis, Decreased response to growth ho... OMIM:604292
Duane-Radial Ray Syndrome
Optic disc hypoplasia, Preaxial polydactyly, Shoulder dislocation, Triphalangeal thumb, Atrial se... OMIM:607323
Simpson-Golabi-Behmel Syndrome
Congenital hip dislocation, Congenital diaphragmatic hernia, High, narrow palate, Atrial septal d... ORPHA:373
Microcephaly And Chorioretinopathy, Autosomal Recessive, 2
Hypoplasia of the pons, Microphthalmia, Talipes equinovarus OMIM:616171
Klippel-Trénaunay Syndrome
Gastrointestinal hemorrhage, Hepatomegaly, Peripheral arteriovenous fistula, Venous insufficiency... ORPHA:90308
Amyotrophic Lateral Sclerosis 5, Juvenile
Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis OMIM:602099
Intellectual Disability-Polydactyly-Uncombable Hair Syndrome
Broad hallux phalanx, Toe syndactyly, Metatarsus valgus, Aplasia/Hypoplasia of toe, Postaxial han... ORPHA:3082
Neurodevelopmental Disorder With Variable Motor And Language Impairment
Mandibular prognathia, Ventriculomegaly, Posteriorly rotated ears, Joint hypermobility, Protrudin... OMIM:617804
Limb-Mammary Syndrome
Hallux valgus, Syndactyly, Split hand, Cleft palate, Split foot, Hypodontia, Camptodactyly, Joint... OMIM:603543
Orofaciodigital Syndrome Type 10
Tarsal synostosis, Accessory oral frenulum, Cleft soft palate, Micrognathia, Long philtrum, Metat... ORPHA:2756
Mucopolysaccharidosis, Type Ii
Delayed eruption of teeth, Intestinal pseudo-obstruction, Hydrocephalus, Flexion contracture, Thi... OMIM:309900
Marbach-Rustad Progeroid Syndrome
Delayed eruption of primary teeth, Micrognathia, Reduced bone mineral density, Eruption failure, ... OMIM:619322
Pallister-Hall Syndrome
Thyroid dysgenesis, Decreased circulating cortisol level, Decreased response to growth hormone st... OMIM:146510
Kleefstra Syndrome Due To A Point Mutation
Natal tooth, Ventriculomegaly, Uplifted earlobe, Abnormality of the dentition, Precocious puberty... ORPHA:261652
Microphthalmia, Isolated 8
Anophthalmia, Optic nerve hypoplasia, Retinal coloboma, Microphthalmia, True anophthalmia OMIM:615113
Tibial Hemimelia
Aplasia of the 2nd metacarpal, Aplasia of the 4th metacarpal, Cutaneous finger syndactyly, Foot o... ORPHA:93322
Frontotemporal Dementia With Motor Neuron Disease
Abnormal lower motor neuron morphology, Abnormal mitochondrial morphology, Abnormal upper motor n... ORPHA:275872
Tetraamelia Syndrome 1
Congenital diaphragmatic hernia, Asplenia, Peripheral pulmonary vessel aplasia, Cleft palate, Pul... OMIM:273395
Hypertelorism-Hypospadias-Polysyndactyly Syndrome
Encephalocele, Finger syndactyly, Broad hallux phalanx, Preaxial hand polydactyly, Exencephaly, B... ORPHA:2211
Polydactyly, Preaxial Iii
Preaxial polydactyly, Triphalangeal thumb OMIM:174600
Microphthalmia, Isolated, With Coloboma 6
Hypoplasia of the fovea, Bilateral microphthalmos, Optic disc hypoplasia OMIM:613703
Neurodevelopmental Disorder With Microcephaly, Seizures, And Cortical Atrophy
Natal tooth, Ankle flexion contracture, Micrognathia, Bilateral conductive hearing impairment, Lo... OMIM:617802
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 2
Encephalocele, Hydrocephalus, Buphthalmos, Microphthalmia, Ventriculomegaly OMIM:613150
Holoprosencephaly 13, X-Linked
Septo-optic dysplasia, Median cleft lip, Optic nerve hypoplasia, Hearing impairment, Micrognathia... OMIM:301043
Goldberg-Shprintzen Syndrome
Aganglionic megacolon, Hypoplasia of the maxilla, Oligodontia, Everted lower lip vermilion, Short... OMIM:609460
Orofaciodigital Syndrome Type 14
Microretrognathia, Dilated fourth ventricle, Low-set, posteriorly rotated ears, Accessory oral fr... ORPHA:434179
Kabuki Syndrome 2
Joint laxity, Natal tooth, Micrognathia, Lower lip pit, Cupped ear, Dental malocclusion, Cleft pa... OMIM:300867
Chudley-Mccullough Syndrome
Hydrocephalus, Ventriculomegaly OMIM:604213
Spondylometaphyseal Dysplasia With Cone-Rod Dystrophy
Short metacarpal, Rhizomelia, Cupped ribs, Metaphyseal widening, Coxa vara, Tibial bowing, Femora... OMIM:608940
Dyggve-Melchior-Clausen Disease
Metaphyseal widening, Flat glenoid fossa, Short metatarsal, Tibial bowing, Femoral bowing, Pectus... OMIM:223800
Diets-Jongmans Syndrome
Inguinal hernia, Ventricular septal defect, Congenital diaphragmatic hernia, Interrupted inferior... OMIM:618846
Fraser Syndrome
Anophthalmia, Dental crowding, Orofacial cleft, High palate, Conductive hearing impairment, Encep... ORPHA:2052
Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb
Bicuspid aortic valve, Single transverse palmar crease, Atrial septal defect, Clinodactyly of the... OMIM:612474
Silver-Russell Syndrome Due To An Imprinting Defect Of 11P15
Dental crowding, Upper limb asymmetry, High palate, Polydactyly, Clinodactyly of the 5th finger ORPHA:231140
Weill-Marchesani Syndrome 3
Aortic valve stenosis, Microspherophakia, Pulmonic stenosis, Brachydactyly OMIM:614819
Myasthenic Syndrome, Congenital, 10
Tongue atrophy OMIM:254300
Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency
Syndactyly, Ventricular septal defect, Abnormality of the hand, Bilateral microphthalmos, Abnorma... ORPHA:369891
Craniosynostosis, Herrmann-Opitz Type
Finger syndactyly, Micromelia, Split hand, Abnormal rib morphology, Aplasia/Hypoplasia of the lun... ORPHA:2145
Alagille Syndrome 2
Cholestasis, Cholestatic liver disease, Pulmonic stenosis, Atrial septal defect, Tetralogy of Fal... OMIM:610205
Proximal 16P11.2 Microduplication Syndrome
Arachnodactyly, Congenital diaphragmatic hernia ORPHA:370079
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease
Hepatomegaly, Portal hypertension, Pancreatic cysts, Splenomegaly, Hematemesis, Esophageal varix,... OMIM:263200
Congenital Nephrotic Syndrome, Finnish Type
Delayed eruption of permanent teeth ORPHA:839
2Q31.1 Microdeletion Syndrome
Abnormal tibia morphology, Deep philtrum, Downturned corners of mouth, Coloboma, Short palm, Clin... ORPHA:251014
Lissencephaly Type 3-Metacarpal Bone Dysplasia Syndrome
Short metacarpal, Abnormal cartilage matrix, Epiphyseal stippling, Talipes equinovarus, Pulmonary... ORPHA:86822
Microphthalmia, Syndromic 1
Anophthalmia, Dental crowding, High, narrow palate, Rectal prolapse, Orofacial cleft, High palate... OMIM:309800
Hadziselimovic Syndrome
Ventricular hypertrophy, Atrial septal defect, Ventricular septal defect, High palate, Pulmonary ... OMIM:612946
Thin Ribs-Tubular Bones-Dysmorphism Syndrome
Slender long bone, Abnormal pelvic girdle bone morphology, Abnormal rib morphology ORPHA:1506
Neurodevelopmental, Jaw, Eye, And Digital Syndrome
Inguinal hernia, Sandal gap, Lens coloboma, 2-3 toe syndactyly, Small thenar eminence, Joint cont... OMIM:618914
Orofaciodigital Syndrome Ix
Median cleft lip, Accessory oral frenulum, Abnormality of the dentition, Cleft palate, High palat... OMIM:258865
Trisomy 9P
Dental crowding, Non-midline cleft lip, Protruding ear, Downturned corners of mouth, Impacted too... ORPHA:236
Gapo Syndrome
Delayed eruption of teeth, Mandibular prognathia, Micrognathia, Joint hyperflexibility, Everted l... ORPHA:2067
Coloboma Of Macula And Skeletal Anomalies
Hallux valgus, Macular coloboma, Coxa valga, Cleft palate, Contracture of the distal interphalang... OMIM:216800
Split-Hand/Foot Malformation 2
Finger syndactyly, Short metacarpal, Split hand, Split foot, Short phalanx of finger OMIM:313350
Vitamin D Hydroxylation-Deficient Rickets, Type 1A
Delayed eruption of teeth, Recurrent fractures, Delayed epiphyseal ossification, Rickets, Sparse ... OMIM:264700
Lethal Congenital Contracture Syndrome 9
Elbow extension contracture, Ulnar deviation of the hand, Centrally nucleated skeletal muscle fib... OMIM:616503
Stickler Syndrome, Type I
Joint stiffness, Micrognathia, Osteoarthritis, Submucous cleft hard palate, Pierre-Robin sequence... OMIM:108300
Multiple Pterygium-Malignant Hyperthermia Syndrome
Exaggerated cupid's bow, Camptodactyly of finger, Posteriorly rotated ears, Narrow mouth, Conduct... ORPHA:2215
Recon Progeroid Syndrome
Joint laxity, Attached earlobe, Prominence of the premaxilla, Dental crowding, Delayed eruption o... OMIM:620370
Naegeli-Franceschetti-Jadassohn Syndrome
Decreased number of sweat glands, Abnormal dental morphology, Interphalangeal joint contracture o... ORPHA:69087
Basel-Vanagaite-Smirin-Yosef Syndrome
Mandibular prognathia, Tented upper lip vermilion, Exaggerated cupid's bow, Cholelithiasis, Dilat... ORPHA:464738
Rhizomelic Chondrodysplasia Punctata, Type 2
Osteopenia, Optic nerve hypoplasia, Micrognathia, Submucous cleft hard palate, Flexion contractur... OMIM:222765
Fibrochondrogenesis 1
Narrow greater sciatic notch, Short palm, Clinodactyly of the 5th finger, Patent foramen ovale, R... OMIM:228520
Wolf-Hirschhorn Syndrome
Recurrent respiratory infections, Hypoplastic pubic ramus, Arachnodactyly, Abnormal heart valve m... ORPHA:280
Branchiootorenal Syndrome 1
Branchial cyst, Branchial fistula, Mixed hearing impairment, Intestinal malrotation, Dilatated in... OMIM:113650
Acitretin/Etretinate Embryopathy
Aplasia/Hypoplasia of the maxilla, Micrognathia, Cupped ear, Microtia, High palate, Bilateral sen... ORPHA:40366
Monosomy 18Q
Arachnodactyly, Abnormal palmar dermatoglyphics, Absence of the pulmonary valve, Tapered finger, ... ORPHA:1600
Congenital Myopathy 22B, Severe Fetal
Hip contracture, Scapular winging, Hepatomegaly, Tapered toe, Shoulder flexion contracture, Hypop... OMIM:620369
Viss Syndrome
Tortuous cerebral arteries, Epidural hemorrhage, Chronic gastritis, High, narrow palate, Right ve... OMIM:619472
Microphthalmia, Lenz Type
Delayed eruption of teeth, Low-set, posteriorly rotated ears, Abnormal dental morphology, Camptod... ORPHA:568
Mullegama-Klein-Martinez Syndrome
Facial palsy, Congenital diaphragmatic hernia, Cleft palate, Coarctation of aorta, Submucous clef... OMIM:301022
Holt-Oram Syndrome
Secundum atrial septal defect, Aplasia of the pectoralis major muscle, Abnormal carpal morphology... OMIM:142900
Cree Mental Retardation Syndrome
Posteriorly rotated ears, Cleft soft palate, Micrognathia, Cryptorchidism, Low-set ears OMIM:606851
Aortic Arch Interruption, Facial Palsy, And Retinal Coloboma
Facial palsy, Interrupted aortic arch, Coarctation of aorta OMIM:107550
Femur-Fibula-Ulna Complex
Short humerus, Finger syndactyly, Abnormal morphology of ulna, Micromelia, Humeroradial synostosi... ORPHA:2019
Combined Pituitary Hormone Deficiencies, Genetic Forms
Osteopenia, Septo-optic dysplasia, Ectopic posterior pituitary, Ectopic anterior pituitary gland,... ORPHA:95494
Primary Lateral Sclerosis
Abnormal lower motor neuron morphology, Atrophy of the spinal cord, Cervical spinal cord atrophy,... ORPHA:35689
Ectodermal Dysplasia 1, Hypohidrotic, X-Linked
Everted upper lip vermilion, Absent nipple, Abnormal oral mucosa morphology, Conical tooth, Hypop... OMIM:305100
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 8
Microphthalmia, Hydrocephalus, Ventriculomegaly OMIM:614830
Orofaciodigital Syndrome Xiv
Microretrognathia, Natal tooth, Occipital encephalocele, Posteriorly rotated ears, Hamartoma of t... OMIM:615948
Hogue-Janssen Syndrome 2
Broad hallux, Postaxial polydactyly, Pectus excavatum, Hydrocephalus, Hip dysplasia, Deviation of... OMIM:616362
Lenz-Majewski Hyperostotic Dwarfism
Mandibular prognathia, Hyperextensibility of the finger joints, Anterior pituitary hypoplasia, Mi... OMIM:151050
Tarp Syndrome
Single transverse palmar crease, Rocker bottom foot, Postaxial polydactyly, Hypoplasia of the rad... OMIM:311900
Periventricular Nodular Heterotopia 1
Syndactyly, Bicuspid aortic valve, Cerebral hemorrhage, Patent ductus arteriosus, Short finger, C... OMIM:300049
Becker Nevus Syndrome
Micromelia, Pectus excavatum, Abnormal tibia morphology, Rib fusion, Upper limb asymmetry, Pectus... ORPHA:64755
Joubert Syndrome 37
Postaxial polydactyly, Cryptorchidism, Molar tooth sign on MRI, Microphthalmia, Decreased testicu... OMIM:619185
Cranioectodermal Dysplasia
Finger syndactyly, Brachydactyly, Rhizomelia, Abnormal dental enamel morphology, Abnormality of t... ORPHA:1515
Aortic Arch Anomaly-Facial Dysmorphism-Intellectual Disability Syndrome
Overriding aorta, Abnormal aortic arch morphology, Arteriovenous malformation, Abnormal hip bone ... ORPHA:1110
Autosomal Dominant Spondylocostal Dysostosis
Recurrent respiratory infections, Missing ribs, Short thorax, Abnormal rib morphology, Posterior ... ORPHA:1797
Tremor-Ataxia-Central Hypomyelination Syndrome
Delayed eruption of teeth, Hypogonadotropic hypogonadism, Oligodontia, Hypodontia, Delayed puberty ORPHA:447896
Developmental And Epileptic Encephalopathy 85 With Or Without Midline Brain Defects
Broad hallux, 1-2 toe syndactyly, Ventricular septal defect, Tapered finger, Congenital diaphragm... OMIM:301044
Bor Syndrome
Branchial cyst, Abnormality of the middle ear ossicles, External ear malformation, Hypoplasia of ... ORPHA:107
Schneckenbecken Dysplasia
Hypoplastic scapulae, Anterior rib cupping, Dumbbell-shaped long bone, Thoracic hypoplasia, Later... OMIM:269250
Intellectual Developmental Disorder, Autosomal Dominant 58
Dental crowding, Posteriorly rotated ears, Protruding tongue, Submucous cleft hard palate, Wide m... OMIM:618106
Midface Hypoplasia, Hearing Impairment, Elliptocytosis, And Nephrocalcinosis
Delayed eruption of teeth, Thin upper lip vermilion, Mixed hearing impairment, Dental crowding, M... OMIM:300990
Cerebrocostomandibular Syndrome
Death in infancy, Hydranencephaly, Spina bifida, Micrognathia, Conductive hearing impairment, Mye... ORPHA:1393
Ehlers-Danlos Syndrome, Classic Type, 1
Hyperextensibility of the finger joints, Joint hypermobility, Osteoarthritis, Irregularly spaced ... OMIM:130000
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
Birk-Barel Syndrome
Microretrognathia, Tented upper lip vermilion, High palate, Short philtrum, Submucous cleft soft ... OMIM:612292
Cleidocranial Dysplasia 1
Increased bone mineral density, Delayed eruption of primary teeth, Micrognathia, Absent frontal s... OMIM:119600
Microphthalmia, Isolated, With Coloboma 4
Microphthalmia OMIM:251505
Proximal Symphalangism
Finger syndactyly, Brachydactyly, Camptodactyly of finger, Tarsal synostosis, Elbow dislocation, ... ORPHA:3250
Joubert Syndrome 27
Molar tooth sign on MRI, Polydactyly OMIM:617120
Neurodegeneration And Seizures Due To Copper Transport Defect
Short femur, Cardiomegaly, Pneumothorax, Talipes equinovarus, Pulmonary hypoplasia, Short tibia, ... OMIM:620306
Congenital Disorder Of Glycosylation, Type Iil
Elevated hepatic transaminase, Hepatomegaly, Ventricular septal defect, Postaxial polydactyly, Sp... OMIM:614576
Rubinstein-Taybi Syndrome 1
Dental crowding, Premature thelarche, Micrognathia, Hypoplasia of the maxilla, High, narrow palat... OMIM:180849
Ectodermal Dysplasia With Facial Dysmorphism And Acral, Ocular, And Brain Anomalies
Persistence of primary teeth, Conical tooth, Dental malocclusion, Oligodontia, Microdontia, Malar... OMIM:618727
Lessel-Kreienkamp Syndrome
Atrial septal defect, Bicuspid aortic valve, Patent ductus arteriosus, Gastroesophageal reflux, P... OMIM:619149
Recombinant Chromosome 8 Syndrome
Atrial septal defect, Ventricular septal defect, Patent ductus arteriosus, Tetralogy of Fallot, P... OMIM:179613
Synpolydactyly 2
Toe syndactyly, Tarsal synostosis, Polydactyly, Carpal synostosis, Metatarsal synostosis, Metacar... OMIM:608180
Multisystemic Smooth Muscle Dysfunction Syndrome
Aortic arch aneurysm, Thoracic aortic aneurysm, Intestinal malrotation, Brachiocephalic artery an... OMIM:613834
Skeletal Dysplasia, Mild, With Joint Laxity And Advanced Bone Age
Scapular winging, Ventricular septal defect, Single transverse palmar crease, Micromelia, Monkey ... OMIM:618870
Lenz-Majewski Hyperostotic Dwarfism
Mandibular prognathia, High, narrow palate, Agenesis of corpus callosum, Elbow ankylosis, Bifid u... ORPHA:2658
Congenital Osteogenesis Imperfecta-Microcephaly-Cataracts Syndrome
Ventricular septal defect, Micromelia, Abnormal rib morphology, Hypoplastic left heart, Ventricul... ORPHA:2772
Ring Chromosome 21 Syndrome
Syndactyly, Small hand, Narrow palm, Abnormal heart morphology, Holoprosencephaly, Clinodactyly ORPHA:1445
Cutis Laxa, Autosomal Recessive, Type Iic
Joint laxity, Mandibular prognathia, Dental crowding, Hypoplasia of the maxilla, Narrow mouth, Py... OMIM:617402
Basal Cell Nevus Syndrome 1
Down-sloping shoulders, Spina bifida, Palmar pits, Hydrocephalus, Irregular ossification of hand ... OMIM:109400
Congenital Total Pulmonary Venous Return Anomaly
Atrial situs ambiguous, Cardiomegaly, Mixed total anomalous pulmonary venous connection, Atrial s... ORPHA:99125
Burning Mouth Syndrome
Abnormality of taste sensation, Parageusia, Abnormality of the gingiva, Strawberry tongue, Xerost... ORPHA:353253
Infantile-Onset X-Linked Spinal Muscular Atrophy
Hip contracture, Abnormal anterior horn cell morphology, Interphalangeal joint contracture of fin... ORPHA:1145
Congenitally Corrected Transposition Of The Great Arteries
Atrial situs ambiguous, Abnormal tricuspid valve morphology, Abnormal left ventricular outflow tr... ORPHA:216694
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 1
Microphthalmia, Hydrocephalus, Cardiomyopathy, Hypoplasia of the brainstem OMIM:613155
Microcephaly 30, Primary, Autosomal Recessive
Thin upper lip vermilion, Cleft soft palate, Uplifted earlobe, Pierre-Robin sequence, Ventriculom... OMIM:620183
Monosomy 5P
Finger syndactyly, High palate, Small hand ORPHA:281
Amyotrophic Lateral Sclerosis 4, Juvenile
Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis, Pallor of dorsal columns o... OMIM:602433
Pseudohypoparathyroidism Type 1B
Delayed eruption of teeth, Increased bone mineral density, Decreased response to growth hormone s... ORPHA:94089
Microphthalmia With Hyperopia, Retinal Degeneration, Macrophakia, And Dental Anomalies
Microphthalmia OMIM:251700
Pierpont Syndrome
Cryptorchidism, Short toe, Broad palm, Short foot, Deep palmar crease, Short finger, Short palm, ... OMIM:602342
Eem Syndrome
Finger syndactyly, Abnormal dental morphology, Selective tooth agenesis, Carious teeth, Ectrodact... ORPHA:1897
Cofs Syndrome
Microphthalmia, Abnormality of retinal pigmentation, Camptodactyly of finger ORPHA:1466
Developmental And Epileptic Encephalopathy 66
Thin upper lip vermilion, Cryptorchidism, Downturned corners of mouth, Wide mouth, Everted lower ... OMIM:618067
Intellectual Disability-Seizures-Abnormal Gait-Facial Dysmorphism Syndrome
Ventricular septal defect, Metatarsus adductus, Osteopathia striata, Increased axial length of th... ORPHA:513456
Den Hoed-De Boer-Voisin Syndrome
Delayed eruption of teeth, Lactose intolerance, Ventriculomegaly, Posteriorly rotated ears, Joint... OMIM:619229
Autosomal Recessive Amelia
Aplasia/Hypoplasia of the lungs, Abnormal cardiac septum morphology, Amelia involving the upper l... ORPHA:1027
Facioscapulohumeral Muscular Dystrophy 1
Tongue atrophy, Sensorineural hearing impairment OMIM:158900
Grant Syndrome
Bowing of the long bones, Abnormal rib morphology, Abnormal pelvic girdle bone morphology, Narrow... ORPHA:2097
C Syndrome
Fused sternal ossification centers, Posteriorly rotated ears, Accessory oral frenulum, Micrognath... OMIM:211750
Johanson-Blizzard Syndrome
Delayed eruption of teeth, Death in infancy, Diabetes mellitus, Abnormality of the dentition, Mal... ORPHA:2315
3M Syndrome
Delayed eruption of teeth, Hypoplasia of the ulna, Scapular winging, Congenital hip dislocation, ... ORPHA:2616
Ectodermal Dysplasia 12, Hypohidrotic/Hair/Tooth/Nail Type
Natal tooth, Hypoplastic sweat glands, Short philtrum, Cleft palate OMIM:617337
Brachydactyly, Type B2
Tarsal synostosis, Proximal placement of thumb, Aplasia/Hypoplasia of the distal phalanges of the... OMIM:611377
Joubert Syndrome 33
Molar tooth sign on MRI, Syndactyly OMIM:617767
Smith-Lemli-Opitz Syndrome
Micromelia, Proximal placement of thumb, 2-3 toe cutaneous syndactyly, Gastrointestinal dysmotili... OMIM:270400
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly
Hypoplasia of the ulna, Metaphyseal spurs, Postaxial polydactyly, Thoracic hypoplasia, Lateral cl... OMIM:613091
Deaf Blind Hypopigmentation Syndrome, Yemenite Type
Delayed eruption of teeth, Macrodontia, High, narrow palate, Sensorineural hearing impairment, Ta... ORPHA:3214
Short-Rib Thoracic Dysplasia 4 With Or Without Polydactyly
Short long bone, Polydactyly, Narrow chest, Brachydactyly OMIM:613819
Branchiogenic Deafness Syndrome
Branchial cyst, Branchial fistula, Mixed hearing impairment, Abnormal pinna morphology, Abnormali... ORPHA:50815
Fanconi Anemia, Complementation Group R
Tethered cord, Absent thumb, Hydrocephalus, Microphthalmia, Radial dysplasia OMIM:617244
Chromosome 3Pter-P25 Deletion Syndrome
Thin upper lip vermilion, Overlapping toe, Postaxial polydactyly, Tapered finger, Downturned corn... OMIM:613792
Li-Ghorbani-Weisz-Hubshman Syndrome
Atrial septal defect, Overlapping toe, Ventricular septal defect, Patent ductus arteriosus, Clino... OMIM:618974
Developmental Delay With Short Stature, Dysmorphic Facial Features, And Sparse Hair 2
Hydrocele testis, Notched primary central incisor, Low-set ears OMIM:620062
Icf Syndrome
Communicating hydrocephalus, Micrognathia, Malabsorption, Protruding tongue, Macroglossia, Low-se... ORPHA:2268
Contractures-Developmental Delay-Pierre Robin Syndrome
Micrognathia, High, narrow palate, Cleft palate, Glossoptosis, Radioulnar synostosis, Microtia, A... ORPHA:436003
Native American Myopathy
Joint laxity, Micrognathia, Conductive hearing impairment, Cryptorchidism, Cleft palate, Downturn... ORPHA:168572
Bryant-Li-Bhoj Neurodevelopmental Syndrome 2
Atrial septal defect, Arachnodactyly, Bicuspid aortic valve, Postaxial polydactyly, Tapered finge... OMIM:619721
20Q11.2 Microduplication Syndrome
Low-set, posteriorly rotated ears, Tented upper lip vermilion, Cryptorchidism, Tented philtrum, G... ORPHA:363659
Carey-Fineman-Ziter Syndrome
Aplasia/Hypoplasia of the tongue, Micrognathia, Pierre-Robin sequence, Cleft palate, Glossoptosis... ORPHA:1358
Angioosteohypotrophic Syndrome
Hypoplasia of the ulna, Prominent superficial veins, Short humerus, Aplasia/hypoplasia involving ... ORPHA:75508
Weill-Marchesani Syndrome
Ventricular septal defect, Short thumb, Pulmonic stenosis, Aortic valve stenosis, Brachydactyly ORPHA:3449
Atypical Pantothenate Kinase-Associated Neurodegeneration
Tongue atrophy ORPHA:216873
Ablepharon Macrostomia Syndrome
Camptodactyly of finger, Hypoplasia of the maxilla, Wide mouth, Thin vermilion border, Hypoplasia... ORPHA:920
Neurodevelopmental Disorder With Dysmorphic Facies, Sleep Disturbance, And Brain Abnormalities
Mandibular prognathia, Dysplastic corpus callosum, Partial agenesis of the corpus callosum, Thick... OMIM:619103
Schilbach-Rott Syndrome
Posteriorly rotated ears, Micrognathia, Submucous cleft hard palate, Microtia, Narrow mouth, Bifi... OMIM:164220
Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked
Elevated hepatic transaminase, Hepatomegaly, Ventricular septal defect, Rocker bottom foot, Optic... OMIM:301056
Amyotrophic Lateral Sclerosis 16, Juvenile
Amyotrophic lateral sclerosis, Weakness of the intrinsic hand muscles OMIM:614373
Immunodeficiency 49
Natal tooth, Posteriorly rotated ears, Micrognathia, Short philtrum, Umbilical hernia, Agenesis o... OMIM:617237
Silver-Russell Syndrome Due To A Point Mutation
Syndactyly, Cleft palate, Short 5th finger, Polydactyly, Ectrodactyly, Small placenta, Clinodacty... ORPHA:397590
Heart And Brain Malformation Syndrome
Ventricular septal defect, Camptodactyly of finger, High, narrow palate, Gastroesophageal reflux,... OMIM:616920
Leukodystrophy, Hypomyelinating, 8, With Or Without Oligodontia And/Or Hypogonadotropic Hypogonadism
Delayed eruption of teeth, Natal tooth, Hypogonadotropic hypogonadism, Oligodontia, Hypodontia OMIM:614381
Autosomal Dominant Myopia-Midfacial Retrusion-Sensorineural Hearing Loss-Rhizomelic Dysplasia Syndrome
Glossoptosis, Sensorineural hearing impairment, Cleft palate, Micrognathia ORPHA:440354
Perlman Syndrome
Distal ileal atresia, Congenital diaphragmatic hernia, Hypoplasia of the abdominal wall musculatu... OMIM:267000
Chondrodysplasia, Blomstrand Type
Micromelia, Squared iliac bones, Flared metaphysis, Advanced ossification of carpal bones, Advanc... OMIM:215045
Isolated Childhood Apraxia Of Speech
High, narrow palate, Overfolded helix, Submucous cleft hard palate ORPHA:209908
Isolated Osteopoikilosis
Syndactyly, Abnormal pelvis bone morphology, Abnormal pelvis bone ossification, Abnormal femur mo... ORPHA:166119
Primrose Syndrome
Hypoplasia of the maxilla, Bilateral cryptorchidism, Flexion contracture, Knee flexion contractur... OMIM:259050
Pierpont Syndrome
Cryptorchidism, Short toe, Deep palmar crease, Short finger, Prominent fingertip pads, Microphtha... ORPHA:487825
Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome
Abnormal lower motor neuron morphology ORPHA:2590
Ophthalmoplegia-Intellectual Disability-Lingua Scrotalis Syndrome
Furrowed tongue ORPHA:2743
Lethal Faciocardiomelic Dysplasia
Microretrognathia, Radial club hand, Microglossia, Narrow mouth ORPHA:1972
Fanconi Anemia, Complementation Group G
Multiple cafe-au-lait spots, Microphthalmia, Abnormal thumb morphology OMIM:614082
Imperforate Oropharynx-Costovertebral Anomalies Syndrome
Abnormality of the philtrum, Aplasia/Hypoplasia of the tongue, Posteriorly rotated ears, Joint hy... ORPHA:2759
Dextrocardia
Meckel diverticulum, Congenital hip dislocation, Dextrocardia, Intestinal malrotation, Situs inve... ORPHA:1666
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 6
Abnormal lower motor neuron morphology, Proximal muscle weakness in upper limbs, Amyotrophic late... OMIM:613954
Tetraamelia-Multiple Malformations Syndrome
Septo-optic dysplasia, Missing ribs, Hydrocephalus, Abnormal rib morphology, Abnormal lung lobati... ORPHA:3301
Intellectual Developmental Disorder, Autosomal Dominant 23
Thin upper lip vermilion, Sandal gap, Dental crowding, Postaxial polydactyly, Downturned corners ... OMIM:615761
Spondylometaphyseal Dysplasia, Sedaghatian Type
Delayed epiphyseal ossification, Long fibula, Narrow greater sciatic notch, Narrow chest, Atrial ... OMIM:250220
Pseudoaminopterin Syndrome
Posterolateral diaphragmatic hernia, Brachydactyly, Inguinal hernia, Overlapping toe, Single tran... ORPHA:221120
Moebius Syndrome
Death in infancy, Hypogonadotropic hypogonadism, Aplasia/Hypoplasia of the tongue, Micrognathia, ... ORPHA:570
7Q11.23 Microduplication Syndrome
Inguinal hernia, Ventricular septal defect, Single transverse palmar crease, Congenital diaphragm... ORPHA:96121
Bardet-Biedl Syndrome 9
Syndactyly, Bone spicule pigmentation of the retina, Postaxial polydactyly, Postaxial hand polyda... OMIM:615986
Solar Urticaria
Vertigo, Abnormal lip morphology, Abnormal tongue morphology ORPHA:97230
Joubert Syndrome 17
Molar tooth sign on MRI, Preaxial polydactyly, Postaxial polydactyly, 3-4 finger syndactyly OMIM:614615
Hypocalcemic Vitamin D-Dependent Rickets
Delayed eruption of teeth, Osteomalacia, Delayed epiphyseal ossification, Rickets, Increased susc... ORPHA:289157
Fixed Subaortic Stenosis
Bicuspid aortic valve, Ventricular septal defect, Cardiomegaly, Patent ductus arteriosus, Coarcta... ORPHA:3092
Gastrointestinal Defects And Immunodeficiency Syndrome 2
Interstitial emphysema, Bronchiectasis, Knee flexion contracture, Inflammation of the large intes... OMIM:619708
Polycystic Lipomembranous Osteodysplasia With Sclerosing Leukoencephalopathy 1
Abnormal upper motor neuron morphology, Abnormality of the hand OMIM:221770
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2B, Prenatal Onset, Autosomal Dominant
Congenital hip dislocation, Femur fracture, Single transverse palmar crease, Ulnar deviation of t... OMIM:618291
Microphthalmia, Syndromic 3
Vertebral fusion, Optic nerve aplasia, Anophthalmia, Hypogonadotropic hypogonadism, Optic nerve h... OMIM:206900
Cutis Laxa, Autosomal Recessive, Type Iie
Syndactyly, Thick lower lip vermilion, Genu varum, Hip dislocation, Deep palmar crease, High pala... OMIM:619451
Rabson-Mendenhall Syndrome
Mandibular prognathia, Enlarged ovaries, Dental crowding, Abnormality of the dentition, Precociou... ORPHA:769
Cardioacrofacial Dysplasia 2
Mandibular prognathia, Tented upper lip vermilion, Accessory oral frenulum, Conical tooth, Deep p... OMIM:619143
Macrosomia-Microphthalmia-Cleft Palate Syndrome
Microphthalmia ORPHA:2432
Spondyloepimetaphyseal Dysplasia, Strudwick Type
Brachydactyly, Club-shaped proximal femur, Anterior rib cupping, Clinodactyly, Hypoplastic pubic ... OMIM:184250
Otospondylomegaepiphyseal Dysplasia
Abnormally ossified vertebrae, Posteriorly rotated ears, Micrognathia, Osteoarthritis, Limitation... ORPHA:1427
Loeys-Dietz Syndrome 5
Smooth philtrum, Tented upper lip vermilion, Cleft soft palate, Eosinophilic infiltration of the ... OMIM:615582
Branchiooculofacial Syndrome
Anophthalmia, Micrognathia, Conductive hearing impairment, Ectopic thymus tissue, Hypoplastic sup... OMIM:113620
Primary Ciliary Dyskinesia
Abnormal inferior vena cava morphology, Recurrent sinopulmonary infections, Atrial situs ambiguou... ORPHA:244
Diamond-Blackfan Anemia 6
Ventricular hypertrophy, Ventricular septal defect, Cleft upper lip, Short thumb, Patent ductus a... OMIM:612561
Dyggve-Melchior-Clausen Disease
Glenoid fossa hypoplasia, Coxa vara, Pectus carinatum, Broad ribs, Rhizomelia, Iliac crest serrat... ORPHA:239
Holoprosencephaly 2
Aplasia of the premaxilla, Diabetes insipidus, Adrenal hypoplasia, Alobar holoprosencephaly, Subm... OMIM:157170
Cousin Syndrome
Posteriorly rotated ears, Micrognathia, Hydrocephalus, Humeroradial synostosis, Microtia, first d... OMIM:260660
Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome Due To 10P11.21P12.31 Microdeletion
Ventricular hypertrophy, Bicuspid aortic valve, Ventricular septal defect, Celiac disease, Patent... ORPHA:284169
Spondyloepimetaphyseal Dysplasia, Missouri Type
Radial bowing, Rhizomelia, Ulnar bowing, Flared metaphysis, Coxa vara, Tibial bowing, Femoral bow... OMIM:602111
Congenital Hydrocephalus
Hydrocephalus, Abnormal heart morphology, Colpocephaly, Macular hypoplasia, Ventriculomegaly ORPHA:2185
Histiocytosis-Lymphadenopathy Plus Syndrome
Cardiomegaly, Joint contracture of the 5th finger, Atrial septal defect, Pancreatic hypoplasia, H... OMIM:602782
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 11
Optic nerve hypoplasia, Hypoplasia of the pons, Hydrocephalus, Hypoplasia of the brainstem, Micro... OMIM:615181
Lethal Acantholytic Erosive Disorder
Natal tooth, Cardiomegaly, 4-5 finger syndactyly, 2-3 finger syndactyly, Cleft palate, Cardiomyop... ORPHA:158687
Timothy Syndrome
Prolonged QT interval, Thin upper lip vermilion, Ventricular septal defect, Cardiomegaly, Patent ... OMIM:601005
Bresek Syndrome
Aganglionic megacolon, Optic nerve hypoplasia, Cryptorchidism, Hydrocephalus, Cleft palate, Protr... ORPHA:85284
Holzgreve Syndrome
Low-set, posteriorly rotated ears, Abnormally ossified vertebrae, Aplasia/Hypoplasia of the tongu... ORPHA:2167
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome
Hypoplasia of the maxilla, Protruding ear, Downturned corners of mouth, Short philtrum, Bifid uvu... ORPHA:500150
Endocrine-Cerebroosteodysplasia
Natal tooth, Median cleft lip, Bilateral cleft lip, Adrenal hypoplasia, Micrognathia, Cryptorchid... OMIM:612651
Galloway-Mowat Syndrome 7
Hallux valgus, Arachnodactyly, Single transverse palmar crease, Ventricular septal defect, Edema,... OMIM:618348
Robinow Syndrome, Autosomal Dominant 1
Short lingual frenulum, Dental crowding, Micrognathia, Orofacial cleft, Downturned corners of mou... OMIM:180700
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 1
Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis OMIM:105550
Cardiospondylocarpofacial Syndrome
Atrial septal defect, Ventricular septal defect, Tarsal synostosis, Congenital diaphragmatic hern... OMIM:157800
3Mc Syndrome 2
Prominence of the premaxilla, Craniosynostosis, Limited elbow movement, Cleft upper lip, Cryptorc... OMIM:265050
Umbilical Cord Ulceration-Intestinal Atresia Syndrome
Ventricular septal defect, Intestinal atresia, Abnormal aortic morphology, Abnormal tricuspid val... ORPHA:3405
Bardet-Biedl Syndrome 17
Mesoaxial polydactyly, Short fourth metatarsal, Mesoaxial hand polydactyly, Dextrocardia, Situs i... OMIM:615994
Familial Osteodysplasia, Anderson Type
Mandibular prognathia, Recurrent fractures, Carious teeth, Abnormal zygomatic bone morphology, Ab... ORPHA:2769
Caudal Regression Syndrome
Missing ribs, Abnormal iliac wing morphology, Abnormal pelvic girdle bone morphology, Pulmonary h... ORPHA:3027
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation
Osteopenia, Intestinal pseudo-obstruction, High, narrow palate, Protruding ear, Downturned corner... ORPHA:453504
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion
Osteopenia, Intestinal pseudo-obstruction, High, narrow palate, Protruding ear, Downturned corner... ORPHA:352665
Diprosopus
Non-midline cleft lip, Abnormal cardiac septum morphology, Anencephaly, Cleft palate ORPHA:1681
Odontochondrodysplasia 2 With Hearing Loss And Diabetes
Osteopenia, Precocious puberty, Sensorineural hearing impairment, Delayed eruption of permanent t... OMIM:619269
Neurofacioskeletal Syndrome With Or Without Renal Agenesis
Attached earlobe, Hip contracture, Thin upper lip vermilion, Posteriorly rotated ears, Supernumer... OMIM:619194
Microcephaly 27, Primary, Autosomal Dominant
Tapered finger, Metatarsus adductus, Short finger, Clinodactyly of the 5th finger, Hip subluxatio... OMIM:619180
Hypophosphatasia
Bowing of the long bones, Abnormal rib morphology, Narrow chest, Emphysema, Abnormal metaphysis m... ORPHA:436
Neurodevelopmental Disorder With Dysmorphic Facies And Distal Skeletal Anomalies
Hallux valgus, Broad hallux, Tapered finger, Pectus excavatum, Long fingers, Short toe, Patent du... OMIM:618659
Mesomelic Dysplasia, Nievergelt Type
Finger syndactyly, Abnormal morphology of ulna, Micromelia, Tarsal synostosis, Elbow dislocation,... ORPHA:2633
Keutel Syndrome
Recurrent respiratory infections, Ventricular septal defect, Pulmonary artery stenosis, Recurrent... ORPHA:85202
Pachyonychia Congenita
Natal tooth, Angular cheilitis, Ear pain, Advanced eruption of teeth, Oral leukoplakia ORPHA:2309
Summitt Syndrome
Syndactyly OMIM:272350
Japanese Encephalitis
Hyperintensity of MRI T2 signal of the spinal cord, Abnormal substantia nigra morphology, Abnorma... ORPHA:79139
Microcephaly-Seizures-Intellectual Disability-Heart Disease Syndrome
Ventricular septal defect, Patent ductus arteriosus, Postaxial hand polydactyly, Abnormal rib mor... ORPHA:2519
Senior-Loken Syndrome 9
Hypoplasia of the femoral head, Cholestasis, Polydactyly, Hepatic fibrosis, Chronic bronchitis OMIM:616629
Multiple Synostoses Syndrome 1
Single transverse palmar crease, Symphalangism affecting the phalanges of the hand, Cutaneous fin... OMIM:186500
Congenital Disorder Of Glycosylation, Type Iia
Osteopenia, Mandibular prognathia, Macrodontia, Posteriorly rotated ears, Protruding tongue, Dias... OMIM:212066
Amyotrophic Lateral Sclerosis 12 With Or Without Frontotemporal Dementia
Tongue atrophy, Tongue fasciculations OMIM:613435
Neurodevelopmental Disorder With Movement Abnormalities, Abnormal Gait, And Autistic Features
Downturned corners of mouth, Everted lower lip vermilion, Widely spaced teeth, Advanced eruption ... OMIM:617865
Hydrocephalus-Costovertebral Dysplasia-Sprengel Anomaly Syndrome
Sandal gap, Hydrocephalus, Abnormal rib morphology, Sprengel anomaly, Brachydactyly ORPHA:2180
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1
Occipital encephalocele, Ventriculomegaly, Optic nerve hypoplasia, Meningoencephalocele, Hydrocep... OMIM:236670
Otopalatodigital Syndrome, Type I
Selective tooth agenesis, Limited knee flexion, Capitate-hamate fusion, Absent frontal sinuses, C... OMIM:311300
Short Stature-Craniofacial Anomalies-Genital Hypoplasia Syndrome
Finger syndactyly, Arachnodactyly, Camptodactyly of finger, Abnormality of the dentition, Cleft p... ORPHA:2994
Intellectual Developmental Disorder, X-Linked, Syndromic, Snijders Blok Type
Bifid uvula, Dysplastic pulmonary valve, Cleft palate OMIM:300958
Marshall-Smith Syndrome
Irregular dentition, Large sternal ossification centers, Bilateral cryptorchidism, Anteriorly pla... OMIM:602535
Nephronophthisis 15
Elevated hepatic transaminase, Polydactyly OMIM:614845
Sclerosteosis
Finger syndactyly, 2-3 finger syndactyly, Diaphyseal thickening, Curved distal phalanges of the hand ORPHA:3152
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 2
Thoracic aortic aneurysm, Bronchomalacia, Ileal atresia, Patent ductus arteriosus, Peritonitis, P... OMIM:619351
Curry-Jones Syndrome
Anal stenosis, Occipital meningocele, Intestinal pseudo-obstruction, Duplication of thumb phalanx... OMIM:601707
Polyneuropathy-Intellectual Disability-Acromicria-Premature Menopause Syndrome
Camptodactyly of finger, Furrowed tongue ORPHA:2928
Treacher Collins Syndrome 1
Cleft soft palate, Micrognathia, Cryptorchidism, Bilateral microphthalmos, Cleft palate, Wide mou... OMIM:154500
Short Rib-Polydactyly Syndrome, Verma-Naumoff Type
Micromelia, Cleft upper lip, Preaxial hand polydactyly, Abnormal pelvis bone ossification, Postax... ORPHA:93271
Marshall Syndrome
Malar flattening, Micrognathia, Absent frontal sinuses, Sensorineural hearing impairment, Thick l... OMIM:154780
Thoc6-Related Developmental Delay-Microcephaly-Facial Dysmorphism Syndrome
Ventriculomegaly, Abnormality of the dentition, Carious teeth, Dysplastic corpus callosum, Thin l... ORPHA:363444
Microcephaly-Facial Dysmorphism-Ocular Anomalies-Multiple Congenital Anomalies Syndrome
Mandibular prognathia, Rieger anomaly, Tented upper lip vermilion, Congenital hypothyroidism, Bup... ORPHA:521445
Aymé-Gripp Syndrome
Pericarditis, Inguinal hernia, Rocker bottom foot, Congenital diaphragmatic hernia, Tapered finge... ORPHA:1272
Joubert Syndrome 23
Coloboma, Polydactyly OMIM:616490
Kbg Syndrome
Thin upper lip vermilion, Macrodontia, Single transverse palmar crease, Congenital malformation o... ORPHA:2332
Pfeiffer Syndrome Type 1
Broad hallux phalanx, Aplasia/Hypoplasia of the thumb, Finger syndactyly, Toe syndactyly, Short h... ORPHA:93258
Thrombocytopenia-Absent Radius Syndrome
Finger syndactyly, Tibial torsion, Aplasia/hypoplasia of the humerus, Absent radius, Coxa valga, ... ORPHA:3320
Schwartz-Jampel Syndrome
Micrognathia, High palate, Wrist flexion contracture, Low-set, posteriorly rotated ears, Pursed l... ORPHA:800
Sprengel Deformity
Rib segmentation abnormalities, Sprengel anomaly, Spina bifida occulta, Shoulder muscle hypoplasia OMIM:184400
Cenani-Lenz Syndactyly Syndrome
Syndactyly, Hypoplasia of the ulna, Premature loss of permanent teeth, Broad hallux, Hypoplasia o... OMIM:212780
Lethal Kniest-Like Dysplasia
Abnormal ischium morphology, Broad long bones, Anterior rib cupping, Mesomelic/rhizomelic limb sh... ORPHA:2347
10Q22.3Q23.3 Microduplication Syndrome
Abnormal clavicle morphology, Tetralogy of Fallot, Abnormal rib morphology ORPHA:276422
Intellectual Developmental Disorder With Behavioral Abnormalities And Craniofacial Dysmorphism With Or Without Seizures
Clinodactyly of the 5th finger, Syndactyly, Tapered finger OMIM:618725
Microphthalmia-Microtia-Fetal Akinesia Syndrome
Microphthalmia, Polyhydramnios, Camptodactyly of finger, Symphalangism affecting the phalanges of... ORPHA:2547
Aortic Arch Interruption
Bicuspid aortic valve, Ventricular septal defect, Patent ductus arteriosus, Aortic valve atresia,... ORPHA:2299
Spondylocostal Dysostosis 4, Autosomal Recessive
Vertebral artery hypoplasia, Unilateral vertebral artery hypoplasia, Dextrocardia, Missing ribs, ... OMIM:613686
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome
Ivory epiphyses, Short metacarpal, Bowing of the long bones, Rhizomelia, Metaphyseal spurs, Bowin... ORPHA:85167
X-Linked Intellectual Disability-Cardiomegaly-Congestive Heart Failure Syndrome
Mandibular prognathia, Protruding tongue, Contractures of the large joints, Everted lower lip ver... ORPHA:324410
Manitoba Oculotrichoanal Syndrome
Omphalocele, Anal stenosis, Anophthalmia, Anteriorly placed anus, Microphthalmia OMIM:248450
46,Xx Difference Of Sex Development-Anorectal Anomalies Syndrome
Aplasia/Hypoplasia of the radius, Tracheoesophageal fistula, Intestinal malrotation, Anal atresia ORPHA:2973
Chst3-Related Skeletal Dysplasia
Delayed eruption of teeth, Flexion contracture, Long philtrum ORPHA:263463
Ventriculomegaly With Defects Of The Radius And Kidney
Bowed forearm bones, Absent thumb, Absent radius, Vascular dilatation, Hydrocephalus, Lateral ven... OMIM:602200
Ellis Van Creveld Syndrome
Delayed eruption of teeth, Abnormal oral mucosa morphology, Abnormality of the dentition, Capitat... ORPHA:289
Weyers Ulnar Ray/Oligodactyly Syndrome
Proximal placement of thumb, Absent thumb, Cleft upper lip, Hypoplasia of the radius, Hand oligod... OMIM:602418
Microcephaly-Glomerulonephritis-Marfanoid Habitus Syndrome
Thoracic kyphosis, Arachnodactyly, Ventriculomegaly ORPHA:2172
Rothmund-Thomson Syndrome
Osteopenia, Abnormal trabecular bone morphology, Delayed eruption of teeth, Selective tooth agene... ORPHA:2909
Ventricular Extrasystoles With Syncope, Perodactyly, And Robin Sequence
Submucous cleft hard palate, Posteriorly placed tongue, Pierre-Robin sequence OMIM:192445
Joubert Syndrome 28
Molar tooth sign on MRI, Pigmentary retinopathy OMIM:617121
Microphthalmia With Linear Skin Defects Syndrome
Anophthalmia, Abnormal dental enamel morphology, Hearing impairment, Micrognathia, Hydrocephalus,... ORPHA:2556
20P13 Microdeletion Syndrome
Finger syndactyly, Thin upper lip vermilion, Tented upper lip vermilion, Polydactyly, Clinodactyl... ORPHA:313781
Dubowitz Syndrome
Delayed eruption of teeth, Low-set, posteriorly rotated ears, Anal stenosis, Hypoparathyroidism, ... ORPHA:235
Syngap1-Related Developmental And Epileptic Encephalopathy
Postaxial polydactyly, Abnormal tongue physiology, Wide mouth, Thin vermilion border, High palate... ORPHA:544254
Au-Kline Syndrome
Craniosynostosis, Sagittal craniosynostosis, Supernumerary nipple, Cryptorchidism, Sensorineural ... OMIM:616580
Heterotaxy, Visceral, 5, Autosomal
Asplenia, Dextrotransposition of the great arteries, Atrial septal defect, Pulmonary artery atres... OMIM:270100
Amyotrophic Lateral Sclerosis 21
Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis, Hand muscle weakness, Shou... OMIM:606070
Cherubism
Jaw swelling, Dental malocclusion, Alveolar ridge overgrowth, Narrow palate, Oligodontia, Multipl... OMIM:118400
Isolated Anencephaly
Omphalocele, Congenital diaphragmatic hernia ORPHA:563609
Multiple Epiphyseal Dysplasia Type 4
Abnormal hand morphology, Metaphyseal widening, Short metatarsal, Coxa vara, High palate, Arthral... ORPHA:93307
Joubert Syndrome 30
Molar tooth sign on MRI, Postaxial hand polydactyly OMIM:617622
Hennekam Syndrome
Delayed eruption of teeth, Abnormal dental morphology, Abnormal oral mucosa morphology, Camptodac... ORPHA:2136
Polysyndactyly With Cardiac Malformation
Syndactyly, Ventricular septal defect, Polyhydramnios, Preaxial hand polydactyly, Duplication of ... OMIM:263630
Short-Rib Thoracic Dysplasia 21 Without Polydactyly
Short lingual frenulum, Posteriorly rotated ears, Flexion contracture, Lateral ventricle dilatati... OMIM:619479
Cleft Lip/Palate-Intestinal Malrotation-Cardiopathy Syndrome
Bifid tongue, Micrognathia, Intestinal malrotation, Bilateral cleft lip and palate ORPHA:2001
Lelis Syndrome
Carious teeth, Mandibular prognathia, Hypodontia, Furrowed tongue ORPHA:140936
Spondyloenchondrodysplasia
Delayed eruption of teeth, Abnormal lateral ventricle morphology, Decreased response to growth ho... ORPHA:1855
Carey-Fineman-Ziter Syndrome 1
Micrognathia, Trismus, Sensorineural hearing impairment, Flexion contracture, Pierre-Robin sequen... OMIM:254940
Oculocerebrorenal Syndrome Of Lowe
Mandibular prognathia, Hyperparathyroidism, Dental crowding, Micrognathia, Deep philtrum, Gingivi... ORPHA:534
Mutilating Palmoplantar Keratoderma With Periorificial Keratotic Plaques
Abnormal oral mucosa morphology, Abnormality of the dentition, Carious teeth, Ankylosis, Abnormal... ORPHA:659
Cornelia De Lange Syndrome 2
Proximal placement of thumb, Limited elbow movement, Small hand, Short foot, Hypertrophic cardiom... OMIM:300590
Bencze Syndrome
Open bite, Submucous cleft hard palate ORPHA:1241
Hydrolethalus Syndrome 1
Omphalocele, Accessory spleen, Ventricular septal defect, Preaxial hand polydactyly, Postaxial ha... OMIM:236680
Pontocerebellar Hypoplasia, Type 1B
Tongue atrophy, Flexion contracture, Tongue fasciculations OMIM:614678
Congenital Pulmonary Lymphangiectasia
Hepatomegaly, Splenomegaly, Chylopericardium, Gastroesophageal reflux, Pulmonic stenosis, Pleural... ORPHA:2414
Acro-Renal-Ocular Syndrome
Optic disc hypoplasia, Coloboma, Triphalangeal thumb, Chorioretinal coloboma, Iris coloboma, Hypo... ORPHA:959
Premature Ovarian Failure 12
Microphthalmia OMIM:616947
Teebi-Shaltout Syndrome
Syndactyly, Ulnar deviation of the hand, Ventricular septal defect, Single transverse palmar crea... OMIM:272950
Degcags Syndrome
Oral-pharyngeal dysphagia, High palate, Gastroesophageal reflux, Atrial septal defect, Diaphragma... OMIM:619488
Weaver Syndrome
Finger syndactyly, Sandal gap, Camptodactyly of finger, Deep philtrum, Large hands, Talipes equin... ORPHA:3447
Craniorachischisis
Cervical spina bifida, Myelomeningocele, Anencephaly, Sirenomelia, Spinal dysraphism, Bifid sternum ORPHA:63260
Gómez-López-Hernández Syndrome
Hydrocephalus, Abnormal brainstem morphology ORPHA:1532
Autosomal Recessive Polycystic Kidney Disease
Cholangitis, Biliary hyperplasia, Abnormal intrahepatic bile duct morphology, Hepatic fibrosis, P... ORPHA:731
Hypoglossia-Hypodactyly Syndrome
Death in infancy, Jejunal atresia, Aplasia/Hypoplasia of the tongue, Micrognathia, Cleft palate, ... ORPHA:989
Down Syndrome
Joint laxity, Aganglionic megacolon, Protruding tongue, Abnormality of the dentition, Conductive ... ORPHA:870
Arachnoid Cyst
Encephalocele, Enlarged fossa interpeduncularis, Subarachnoid hemorrhage, Hydrocephalus, Holopros... ORPHA:2356
Temtamy Syndrome
Short toe, Genu varum, Clinodactyly of the 5th finger, Microphthalmia, Brachydactyly ORPHA:1777
Spondyloepiphyseal Dysplasia Congenita
Abnormally ossified vertebrae, Limited elbow movement, Micrognathia, Osteoporosis, Cleft palate, ... ORPHA:94068
Craniosynostosis, Philadelphia Type
Finger syndactyly ORPHA:1527
Cortical Dysplasia, Complex, With Other Brain Malformations 6
Microphthalmia, Hypoplasia of the brainstem OMIM:615771
Ossification Anomalies-Psychomotor Developmental Delay Syndrome
Metaphyseal widening, Abnormal thorax morphology, Triangular shaped distal phalanges of the hand,... ORPHA:73230
Cardiomyopathy, Familial Restrictive, 6
Restrictive cardiomyopathy, Portal vein hypoplasia, Pulmonic stenosis, Hepatomegaly OMIM:619433
Craniofrontonasal Syndrome
Toe syndactyly, Broad hallux, Down-sloping shoulders, Congenital diaphragmatic hernia, Cleft pala... OMIM:304110
Hyperparathyroidism, Transient Neonatal
Communicating hydrocephalus, Short femur, Metaphyseal spurs, Patent ductus arteriosus, Undulate r... OMIM:618188
Intellectual Disability-Seizures-Macrocephaly-Obesity Syndrome
Delayed eruption of teeth, Abnormal dental morphology, Underdeveloped superior crus of antihelix,... ORPHA:369950
Verloove Vanhorick-Brubakk Syndrome
Finger syndactyly, Tarsal synostosis, Abnormal femur morphology, Cleft palate, Aplasia/Hypoplasia... ORPHA:3429
Spondylometaphyseal Dysplasia, Schmidt Type
Stenosis of the external auditory canal, Cleft soft palate, Micrognathia ORPHA:93316
Ogden Syndrome
Congenital hip dislocation, Bicuspid aortic valve, Cardiomegaly, Secundum atrial septal defect, M... OMIM:300855
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5
Hypoplasia of the pons, Hydrocephalus, Hypoplasia of the brainstem, Left ventricular hypertrophy,... OMIM:613153
Spondyloepimetaphyseal Dysplasia, X-Linked, With Hypomyelinating Leukodystrophy
Anterior rib cupping, Metaphyseal widening, Broad palm, Coxa vara, Flattened epiphysis, Metaphyse... OMIM:300232
Cartilage-Hair Hypoplasia
Micromelia, Metaphyseal chondrodysplasia, Tibial bowing, Pectus carinatum, Narrow chest, Short pa... ORPHA:175
Yunis-Varon Syndrome
Aplasia of the distal phalanges of the hand, Single transverse palmar crease, Polyhydramnios, Car... ORPHA:3472
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia
Hypoplastic pubic ramus, Proximal placement of thumb, Short metatarsal, Hand monodactyly, Patella... OMIM:609945
Joubert Syndrome 4
Molar tooth sign on MRI, Elongated superior cerebellar peduncle, Thickened superior cerebellar pe... OMIM:609583
Kury-Isidor Syndrome
Finger syndactyly, Tented upper lip vermilion, Ventricular septal defect, Rocker bottom foot, Pro... OMIM:619762
Joubert Syndrome With Hepatic Defect
Occipital encephalocele, Postaxial hand polydactyly, Hydrocephalus ORPHA:1454
Arterial Tortuosity Syndrome
Coxa vara, Gastroesophageal reflux, Clinodactyly of the 5th finger, Arachnodactyly, Femoral herni... ORPHA:3342
Right Pulmonary Artery, Anomalous Origin Of, Familial
Ventricular septal defect, Patent ductus arteriosus, Coarctation of aorta, Patent foramen ovale, ... OMIM:610338
Charcot-Marie-Tooth Disease, Axonal, Type 2S
Tongue atrophy OMIM:616155
Boucher-Neuhauser Syndrome
Abnormal upper motor neuron morphology OMIM:215470
Craniofacioskeletal Syndrome
Atrial septal defect, Absent gallbladder, Ventricular septal defect, Tracheal stenosis, Patent du... OMIM:300712
Congenital Hypotonia, Epilepsy, Developmental Delay, And Digital Anomalies
Atrial septal defect, Overlapping toe, Ventricular septal defect, Cryptorchidism, Increased nucha... OMIM:618494
Amyotrophic Lateral Sclerosis 23
Degeneration of anterior horn cells, Amyotrophic lateral sclerosis OMIM:617839
Kapur-Toriello Syndrome
Ventricular septal defect, Single transverse palmar crease, Camptodactyly of finger, Cleft upper ... OMIM:244300
Adams-Oliver Syndrome 2
Single transverse palmar crease, Hydrocephalus, Absent distal phalanges, Short middle phalanx of ... OMIM:614219
Fetal Akinesia Deformation Sequence 1
Hip contracture, Ulnar deviation of the hand, Rocker bottom foot, Camptodactyly of finger, Hydroc... OMIM:208150
Ameloonychohypohidrotic Syndrome
Hypocalcification of dental enamel, Marked delay in eruption of permanent teeth, Yellow-brown dis... OMIM:104570
Noonan Syndrome 8
Atrial septal defect, Ventricular septal defect, Patent ductus arteriosus, Hypertrophic cardiomyo... OMIM:615355
Aase-Smith Syndrome I
Ventricular septal defect, Hydrocephalus, Cleft palate, Talipes equinovarus, Open mouth, Slender ... OMIM:147800
Mucopolysaccharidosis, Type Iva
Ulnar deviation of the wrist, Abnormal heart valve morphology, Coxa valga, Epiphyseal deformities... OMIM:253000
Pfeiffer Syndrome Type 2
Finger syndactyly, Broad hallux phalanx, Toe syndactyly, Intestinal malrotation, Short hallux, Ha... ORPHA:93259
Summitt Syndrome
Finger syndactyly, Camptodactyly of finger, Genu valgum, Short palm, Clinodactyly of the 5th fing... ORPHA:3210
Nephronophthisis 2
Situs inversus totalis, Pulmonary hypoplasia OMIM:602088
Coffin-Siris Syndrome 1
Single transverse palmar crease, Congenital diaphragmatic hernia, Prominent interphalangeal joint... OMIM:135900
Bardet-Biedl Syndrome 22
Postaxial foot polydactyly, Polydactyly OMIM:617119
Hydrocephalus, Congenital, 3, With Brain Anomalies
Ventriculomegaly, Hydrocephalus, Holoprosencephaly, Hydranencephaly, Dandy-Walker malformation OMIM:617967
Fibulo-Ulnar Hypoplasia-Renal Anomalies Syndrome
Hypoplasia of the ulna, Finger syndactyly, Ventricular septal defect, Polyhydramnios, Aplasia/Hyp... ORPHA:2256
Dubowitz Syndrome
Delayed eruption of teeth, Micrognathia, Carious teeth, Cryptorchidism, Velopharyngeal insufficie... OMIM:223370
Macrocephaly, Neurodevelopmental Delay, Lymphoid Hyperplasia, And Persistent Fetal Hemoglobin
Persistence of primary teeth, Umbilical hernia, Dental crowding, Hiatus hernia OMIM:619769
Alkuraya-Kucinskas Syndrome
Overlapping toe, Edema, Pericardial effusion, Hydrocephalus, Cutaneous syndactyly, Pleural effusi... OMIM:617822
Miller-Dieker Lissencephaly Syndrome
Delayed eruption of teeth, Thin upper lip vermilion, Posteriorly rotated ears, Micrognathia, Cryp... OMIM:247200
Cardiac Valvular Dysplasia 2
Bicuspid aortic valve, Ascending tubular aorta aneurysm, Pulmonic stenosis, Subvalvular aortic st... OMIM:620067
Tibial Aplasia-Ectrodactyly Syndrome
Finger syndactyly, Short femur, Preaxial hand polydactyly, Postaxial hand polydactyly, Split hand... ORPHA:3329
Cardiomyopathy, Familial Restrictive, 1
Left ventricular hypertrophy, Restrictive cardiomyopathy, Left atrial enlargement, Ventriculomegaly OMIM:115210
Deafness With Labyrinthine Aplasia, Microtia, And Microdontia
Conical tooth, Micrognathia, Supernumerary tooth, Sensorineural hearing impairment, Aplasia of th... ORPHA:90024
Schinzel-Giedion Syndrome
Delayed eruption of teeth, Abnormal clavicle morphology, Overlapping toe, Abnormal thorax morphol... ORPHA:798
Mitochondrial Complex I Deficiency, Nuclear Type 16
Aplasia of the left hemidiaphragm OMIM:618238
Lipoid Proteinosis
Abnormal oral mucosa morphology, Abnormality of the gingiva, Thick lower lip vermilion, High pala... ORPHA:530
Gapo Syndrome
Ventriculomegaly, Micrognathia, High, narrow palate, Thick lower lip vermilion, Protruding ear, E... OMIM:230740
Trichodermodysplasia-Dental Alterations Syndrome
Delayed eruption of teeth, Abnormal dental morphology, Supernumerary tooth, Tooth agenesis, Adeno... ORPHA:3353
De Barsy Syndrome
Recurrent sinopulmonary infections, Decreased muscle mass, Congenital hip dislocation, Ventricula... ORPHA:2962
Joubert Syndrome 3
Molar tooth sign on MRI, Pigmentary retinopathy, Elongated superior cerebellar peduncle, Atrial s... OMIM:608629
Oculotrichoanal Syndrome
Anteriorly placed anus, Microphthalmia, Anal stenosis, Anophthalmia ORPHA:2717
Gaucher Disease, Perinatal Lethal
Hepatomegaly, Cardiomegaly, Splenomegaly, Hepatosplenomegaly, Pulmonary hypoplasia, Dysphagia, Ar... OMIM:608013
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria
Elevated hepatic transaminase, Recurrent respiratory infections, Short humerus, Short femur, Skel... ORPHA:17
Cataract 11, Multiple Types
Microphthalmia OMIM:610623
Tetrasomy 9P
Myositis, Biliary atresia, High palate, Clinodactyly of the 5th finger, Patent foramen ovale, Bif... ORPHA:3310
Craniofacial-Deafness-Hand Syndrome
Hypoplasia of the maxilla, Malar flattening, Sensorineural hearing impairment OMIM:122880
Saul-Wilson Syndrome
Enlarged epiphyses, Short metacarpal, Prominent superficial veins, Pseudoepiphyses of the metacar... OMIM:618150
Pulmonic Stenosis
Pulmonic stenosis OMIM:265500
9Q21.13 Microdeletion Syndrome
Cryptorchidism, Abnormal heart morphology, Hip dysplasia, Syringomyelia, Polydactyly ORPHA:531151
Isolated Posterior Meningocele
Tethered cord, Hydrocephalus, Meningocele, Lipomyelomeningocele, Neural tube defect, Hydromyelia,... ORPHA:268810
Aicardi Syndrome
Intestinal polyposis, Prominence of the premaxilla, Block vertebrae, Hiatus hernia, Cleft upper l... ORPHA:50
Maternal Uniparental Disomy Of Chromosome 2
Preaxial hand polydactyly, Respiratory infections in early life, Contractures of the large joints... ORPHA:96179
Weaver Syndrome
Short fourth metatarsal, Single transverse palmar crease, Calcaneovalgus deformity, Hypoplastic i... OMIM:277590
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome
Finger syndactyly, Toe syndactyly, Telangiectasia of the skin, Hydrocephalus, Wide mouth, Hand po... ORPHA:60040
Fibrochondrogenesis
Hypoplastic scapulae, Camptodactyly of finger, Micromelia, Abnormal rib morphology, Bell-shaped t... ORPHA:2021
Senior-Loken Syndrome 8
Hepatic cysts, Pancreatic cysts, Vascular dilatation, Polydactyly, Intrahepatic bile duct dilatation OMIM:616307
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1
Sinusitis, Malabsorption, Micrognathia, Protruding tongue, Macroglossia, Low-set ears, Malar flat... OMIM:242860
Neu-Laxova Syndrome 2
Finger syndactyly, Toe syndactyly, Rocker bottom foot, Edema, Polyhydramnios, Spina bifida, Cleft... OMIM:616038
Zimmermann-Laband Syndrome 1
Delayed eruption of teeth, Hyperextensibility of the finger joints, Mandibular prognathia, Poster... OMIM:135500
Epidermolysis Bullosa, Lethal Acantholytic
Neonatal death, Natal tooth OMIM:609638
Mucopolysaccharidosis, Type Ivb
Ulnar deviation of the wrist, Coxa valga, Epiphyseal deformities of tubular bones, Metaphyseal wi... OMIM:253010
Pierre Robin Sequence With Pectus Excavatum And Rib And Scapular Anomalies
Pectus excavatum, Hypoplastic distal segments of scapulae, Abnormal rib morphology OMIM:602196
Acromesomelic Dysplasia 4
Thoracic scoliosis, Short metatarsal, Short phalanx of finger, Genu varum, Short metacarpal, Radi... OMIM:619636
Nanophthalmos 4
Microphthalmia OMIM:615972
Congenital Muscular Dystrophy, Fukuyama Type
Camptodactyly of finger, Pectus excavatum, Hydrocephalus, Dilated cardiomyopathy, Ventriculomegaly ORPHA:272
Distal Deletion 10Q
Thin upper lip vermilion, Abnormal morphology of the vestibule of the inner ear, Craniosynostosis... ORPHA:96148
Congenital Varicella Syndrome
Microphthalmia, Micromelia ORPHA:291
Kabuki Syndrome
Congenital diaphragmatic hernia, Small hand, Hip dislocation, Cleft palate, Coarctation of aorta,... ORPHA:2322
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion
Recurrent respiratory infections, Broad hallux, Pneumonia, Bicuspid aortic valve, Ventricular sep... ORPHA:353281
Renal Agenesis
Talipes equinovarus, Ventricular septal defect, Pulmonary hypoplasia, Anal atresia ORPHA:411709
Spondylocostal Dysostosis 3, Autosomal Recessive
Contracture of the proximal interphalangeal joint of the 2nd finger, Rib fusion, Slender finger OMIM:609813
Osteogenesis Imperfecta, Type Ii
Crumpled long bones, Broad long bones, Beaded ribs, Tibial bowing, Thin ribs, Bell-shaped thorax,... OMIM:166210
Fontaine Progeroid Syndrome
Bicuspid aortic valve, Hypoplasia of the abdominal wall musculature, High, narrow palate, Anterio... OMIM:612289
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency
Bicuspid aortic valve, High palate, Gastroesophageal reflux, Atrial septal defect, Patent foramen... ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations
Bicuspid aortic valve, High palate, Gastroesophageal reflux, Atrial septal defect, Patent foramen... ORPHA:353277
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To A Point Mutation
Thin upper lip vermilion, Tented upper lip vermilion, External ear malformation, Abnormality of p... ORPHA:438216
Coach Syndrome 2
Molar tooth sign on MRI, Hydrocephalus OMIM:619111
White-Sutton Syndrome
Ventral hernia, Abnormality of the gastrointestinal tract, Inguinal hernia, Facial hypotonia, Con... ORPHA:468678
Achondrogenesis, Type Ii
Barrel-shaped chest, Broad long bones, Short tubular bones of the hand, Abnormally large globe, S... OMIM:200610
Thrombocytopenia-Absent Radius Syndrome
Edema of the dorsum of feet, Edema of the dorsum of hands, Femoral bowing, Abnormal shoulder morp... OMIM:274000
Neurodevelopmental Disorder With Speech Impairment And With Or Without Seizures
Macrodontia of permanent maxillary central incisor, Open mouth, Thick vermilion border, Hearing i... OMIM:620114
Laurence-Moon Syndrome
Finger syndactyly, Bilateral single transverse palmar creases, Hand polydactyly, Iris coloboma, B... ORPHA:2377
Buratti-Harel Syndrome
Posteriorly rotated ears, Cryptorchidism, Velopharyngeal insufficiency, Submucous cleft hard pala... OMIM:619314
Diamond-Blackfan Anemia 15 With Mandibulofacial Dysostosis
Cleft palate, Bifid uvula, Congenital diaphragmatic hernia OMIM:606164
Opitz-Kaveggia Syndrome
Dental crowding, Single transverse palmar crease, Anteriorly placed anus, Prominent fingertip pad... OMIM:305450
Linear Skin Defects With Multiple Congenital Anomalies 3
Thyroid C cell hyperplasia, Delayed eruption of primary teeth, Lateral ventricle dilatation, Micr... OMIM:300952
3Q29 Microduplication Syndrome
Toe syndactyly, Sandal gap, Ventricular septal defect, Abnormality of the dentition, Deep philtru... ORPHA:251038
X-Linked Agammaglobulinemia
Sinusitis, Osteomyelitis, Malabsorption, Sensorineural hearing impairment, Arthritis, Glossoptosi... ORPHA:47
Aicardi Syndrome
Prominence of the premaxilla, Block vertebrae, Spina bifida, Hiatus hernia, Cleft upper lip, Prec... OMIM:304050
Barber-Say Syndrome
Delayed eruption of teeth, Abnormal pinna morphology, Wide mouth, Breast aplasia, Atresia of the ... ORPHA:1231
Knobloch Syndrome 2
Encephalocele, Recurrent respiratory infections, Patent ductus arteriosus, Abnormal pulmonary int... OMIM:618458
Trisomy 5P
Ventriculomegaly, Abnormal metacarpal morphology ORPHA:1742
Microcephaly-Microcornea Syndrome, Seemanova Type
Microphthalmia ORPHA:2528
Achondrogenesis
Micromelia, Short thorax, Aplasia/Hypoplasia of the lungs, Narrow chest, Umbilical hernia ORPHA:932
Keratoderma Hereditarium Mutilans
Abnormal spinal cord morphology, Autoamputation of digits, Honeycomb palmoplantar hyperkeratosis ORPHA:494
Noonan Syndrome 11
Palmoplantar cutis laxa, Atrial septal defect, Hypertrophic cardiomyopathy, Pulmonic stenosis OMIM:618499
Floating-Harbor Syndrome
Persistence of primary teeth, Celiac disease, Carious teeth, Hypoplasia of the maxilla, Conductiv... ORPHA:2044
Cone-Rod Dystrophy 16
Bone spicule pigmentation of the retina, Postaxial polydactyly OMIM:614500
Distal Deletion 12Q
Median cleft lip, Diabetes mellitus, Unilateral cryptorchidism, Maturity-onset diabetes of the yo... ORPHA:96149
Singleton-Merten Syndrome 1
Osteopenia, Thin upper lip vermilion, Carious teeth, Hypoplasia of the maxilla, Osteoporosis, Ost... OMIM:182250
Congenital Rubella Syndrome
Abnormality of retinal pigmentation, Ventricular septal defect, Aplasia/Hypoplasia of the iris, A... ORPHA:290
Fatco Syndrome
Finger syndactyly, Tarsal synostosis, Abnormal tibia morphology, Split hand, Absent hand, Abnorma... ORPHA:2492
Loeys-Dietz Syndrome 6
Ventricular hypertrophy, Carotid artery dissection, Thoracic aortic aneurysm, Arachnodactyly, Var... OMIM:619656
Mckusick-Kaufman Syndrome
Syndactyly, Congenital hip dislocation, Aganglionic megacolon, Mesoaxial hand polydactyly, Postax... OMIM:236700
Preaxial Polydactyly-Colobomata-Intellectual Disability Syndrome
Preaxial polydactyly, Iris coloboma, Retinal coloboma, Chorioretinal coloboma ORPHA:2921
Bardet-Biedl Syndrome 8
Situs inversus totalis, Postaxial polydactyly OMIM:615985
Neutropenia, Severe Congenital, 4, Autosomal Recessive
Single transverse palmar crease, Secundum atrial septal defect, High palate, Hepatomegaly, Perian... OMIM:612541
Cardiofaciocutaneous Syndrome 1
Osteopenia, Hyperextensibility of the finger joints, Posteriorly rotated ears, Abnormality of the... OMIM:115150
Septooptic Dysplasia
Optic disc hypoplasia, Polydactyly, Optic nerve hypoplasia, Short finger OMIM:182230
Charcot-Marie-Tooth Disease, Type 4C
Prolonged brainstem auditory evoked potentials, Tongue atrophy, Tongue fasciculations, Hearing im... OMIM:601596
Kyphoscoliotic Ehlers-Danlos Syndrome Due To Lysyl Hydroxylase 1 Deficiency
Decreased muscle mass, Widened atrophic scar, High, narrow palate, Wrist drop, Muscle fiber atrop... ORPHA:1900
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 13
11 pairs of ribs, Communicating hydrocephalus, Ventriculomegaly, Occipital encephalocele, Hydroce... OMIM:615287
Long Qt Syndrome 8
Syndactyly, Sudden cardiac death, Sinus bradycardia, Syncope, Aborted sudden cardiac death, Prolo... OMIM:618447
Chronic Atrial And Intestinal Dysrhythmia
Intestinal pseudo-obstruction, Bicuspid aortic valve, Left atrial enlargement, Pulmonic stenosis OMIM:616201
Polyglucosan Body Neuropathy, Adult Form
Abnormal upper motor neuron morphology OMIM:263570
Scleromyxedema
Abnormality of the gastrointestinal tract, Abnormal coronary artery morphology, Transient ischemi... ORPHA:167635
Hepatic Fibrosis-Renal Cysts-Intellectual Disability Syndrome
Low-set, posteriorly rotated ears, Hearing abnormality, Meningocele, Protruding ear, Glossoptosis... ORPHA:2031
Incontinentia Pigmenti
Delayed eruption of teeth, Abnormal dental morphology, Camptodactyly of finger, Abnormal dental e... ORPHA:464
Sarcosinemia
Hypertrophic cardiomyopathy, Peroneal muscle weakness, Pulmonic stenosis ORPHA:3129
Caudal Duplication
Cryptorchidism, Myelomeningocele, Spinal cord lesion, Spina bifida ORPHA:1756
Familial Adenomatous Polyposis
Duodenal polyposis, Multiple gastric polyps, Eruption failure, Papillary thyroid carcinoma, Adeno... ORPHA:733
X-Linked Microcephaly-Growth Retardation-Prognathism-Cryptorchidism Syndrome
Finger syndactyly, Single transverse palmar crease, Ankle flexion contracture, Tapered finger, Pu... ORPHA:435938
Cardiac, Facial, And Digital Anomalies With Developmental Delay
Mitral atresia, Patent ductus arteriosus, Clinodactyly, Coarctation of aorta, Supravalvar pulmona... OMIM:618164
Orofaciodigital Syndrome Type 3
Irregular dentition, Hamartoma of tongue, Abnormality of the dentition, Lobulated tongue, Low-set... ORPHA:2752
Hamamy Syndrome
Prolonged QRS complex, High palate, Atrial septal defect, Clinodactyly of the 5th finger, Long to... OMIM:611174
Craniodiaphyseal Dysplasia, Autosomal Dominant
Thickened ribs, Diaphyseal sclerosis OMIM:122860
Criss-Cross Heart
Ventricular septal defect, Tricuspid stenosis, Transposition of the great arteries, Pulmonic sten... ORPHA:1461
Pallister-Hall Syndrome
Adrenal hypoplasia, Gonadotropin deficiency, Holoprosencephaly, Bifid uvula, Microretrognathia, L... ORPHA:672
Amyotrophic Lateral Sclerosis 19
Amyotrophic lateral sclerosis OMIM:615515
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome
Osteopenia, Craniosynostosis, Cryptorchidism, Cleft palate, Furrowed tongue, Downturned corners o... ORPHA:453499
Brachydactyly, Type E1
Multiple impacted teeth OMIM:113300
Lethal Hemolytic Anemia-Genital Anomalies Syndrome
Aplasia/Hypoplasia of the lungs, Splenomegaly, Sandal gap ORPHA:1046
Familial Adenomatous Polyposis 1
Duodenal polyposis, Carious teeth, Adrenocortical carcinoma, Supernumerary tooth, Adenomatous col... OMIM:175100
Restrictive Dermopathy
Thoracic kyphoscoliosis, Aplasia/Hypoplasia of the clavicles, Natal tooth, Atrial septal defect, ... ORPHA:1662
Robinow Syndrome, Autosomal Dominant 3
Micrognathia, Cleft lip, Cryptorchidism, Dental malocclusion, Gingival overgrowth, Cleft palate, ... OMIM:616894
Joubert Syndrome 8
Molar tooth sign on MRI, Pigmentary retinopathy, Occipital encephalocele OMIM:612291
Ischiocoxopodopatellar Syndrome With Or Without Pulmonary Arterial Hypertension
Wide capital femoral epiphyses, Short femur, Sandal gap, Tarsal synostosis, Flat capital femoral ... OMIM:147891
Isotretinoin Embryopathy-Like Syndrome
Micrognathia, Hydrocephalus, Cleft palate, Anotia, Microtia OMIM:243440
Hartsfield Syndrome
Median cleft lip, Posteriorly rotated ears, Diabetes insipidus, Craniosynostosis, Cleft upper lip... OMIM:615465
Polymicrogyria With Or Without Vascular-Type Ehlers-Danlos Syndrome
Long fingers, Atypical scarring of skin, Varicose veins, Atrophic scars, Camptodactyly, Bilateral... OMIM:618343
Desbuquois Dysplasia 2
Dental crowding, Single transverse palmar crease, Metaphyseal widening, Short phalanx of finger, ... OMIM:615777
Digeorge Syndrome
Hepatic steatosis, Inguinal hernia, Ventricular septal defect, Femoral hernia, Cholelithiasis, At... OMIM:188400
Nephrotic Syndrome, Type 11
Arachnodactyly, Ventricular septal defect, Cleft lip, Partial duplication of thumb phalanx, Dilat... OMIM:616730
Amyotrophic Lateral Sclerosis 22 With Or Without Frontotemporal Dementia
Amyotrophic lateral sclerosis OMIM:616208
Doors Syndrome
Adrenal hyperplasia, Short lingual frenulum, Downturned corners of mouth, Widely spaced teeth, Hi... ORPHA:79500
Autosomal Dominant Robinow Syndrome
Micrognathia, High, narrow palate, Abnormality of the gingiva, Downturned corners of mouth, Oligo... ORPHA:3107
Cantú Syndrome
Finger syndactyly, Broad hallux phalanx, Abnormal heart valve morphology, Short hallux, Coxa valg... ORPHA:1517
B4Galt7-Related Spondylodysplastic Ehlers-Danlos Syndrome
Long toe, Skeletal muscle atrophy, Arachnodactyly, Lipodystrophy, Palmoplantar cutis gyrata, Flex... ORPHA:75496
Bohring-Opitz Syndrome
Syndactyly, Bilateral cleft palate, Overlapping toe, Ulnar deviation of the wrist, Intestinal mal... OMIM:605039
Cutaneous Telangiectasia And Cancer Syndrome, Familial
Carious teeth, Conical incisor, Enamel hypoplasia OMIM:614564
Aortic Aneurysm, Familial Thoracic 10
Aortic arch aneurysm, Thoracic aortic aneurysm, Bicuspid aortic valve, Fusiform ascending tubular... OMIM:617168
Cenani-Lenz Syndrome
Hypoplasia of the ulna, Finger syndactyly, Toe syndactyly, Micromelia, Elbow dislocation, Short t... ORPHA:3258
Fg Syndrome Type 1
Dental crowding, Single transverse palmar crease, Fused teeth, High palate, Atrial septal defect,... ORPHA:93932
Gm1-Gangliosidosis, Type Iii
Hypoplastic acetabulae, Flared iliac wing, Ventriculomegaly, Foam cells OMIM:230650
Joubert Syndrome 1
Brainstem dysplasia, Elongated superior cerebellar peduncle, Postaxial hand polydactyly, Occipita... OMIM:213300
Autosomal Recessive Hypophosphatemic Rickets
Delayed eruption of teeth, Abnormal trabecular bone morphology, Increased bone mineral density, O... ORPHA:289176
Roberts-Sc Phocomelia Syndrome
Tetraphocomelia, Atrial septal defect, Phocomelia, Wrist flexion contracture, Syndactyly, Hypopla... OMIM:268300
Knobloch Syndrome
Occipital encephalocele, Patent ductus arteriosus, Dextrocardia, Hydrocephalus ORPHA:1571
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome
Long toe, Hyperextensibility of the finger joints, Absent gallbladder, Ventricular septal defect,... ORPHA:163979
Fanconi Anemia, Complementation Group J
Multiple cafe-au-lait spots, Short thumb, Microphthalmia OMIM:609054
Multiple Acyl-Coa Dehydrogenase Deficiency
Hepatomegaly, Jaundice, Pulmonary hypoplasia, Hepatic periportal necrosis, Hepatic steatosis OMIM:231680
Isolated Split Hand-Split Foot Malformation
Finger syndactyly, Split hand, Absent hand, Aniridia, Oligodactyly ORPHA:2440
Autosomal Dominant Kenny-Caffey Syndrome
Persistence of primary teeth, Carious teeth, Bilateral microphthalmos, Cortical thickening of lon... ORPHA:93325
22Q11.2 Duplication Syndrome
Ventricular septal defect, Cleft palate, Hypoplastic left heart, Transposition of the great arter... ORPHA:1727
Frontometaphyseal Dysplasia 2
Decreased muscle mass, Congenital hip dislocation, Bicuspid aortic valve, Elbow contracture, Shor... OMIM:617137
Tetraploidy
Aplasia/Hypoplasia of the lungs, Radial club hand, Aplasia/Hypoplasia affecting the eye, Cleft pa... ORPHA:3305
Pseudoleprechaunism Syndrome, Patterson Type
Diabetes mellitus, Abnormal mandible condylar process morphology, Increased circulating androgen ... ORPHA:2976
Gaucher Disease, Type Ii
Hepatomegaly, Splenomegaly, Gastroesophageal reflux, Dysphagia, Bronchiolitis, Recurrent aspirati... OMIM:230900
Monosomy 18P
Lymphedema, Microphthalmia, Holoprosencephaly, Brachydactyly ORPHA:1598
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 1
Sandal gap, Short toe, Perimembranous ventricular septal defect, High palate, Transposition of th... OMIM:617877
Ventriculomegaly With Cystic Kidney Disease
Ventriculomegaly, Ventricular septal defect, Postaxial polydactyly, Hydrocephalus, Vascular dilat... OMIM:219730
Blepharocheilodontic Syndrome 2
Tooth agenesis, Cleft lip, Conical tooth, Cutaneous syndactyly OMIM:617681
Warburg Micro Syndrome 1
Microphthalmia, Overlapping toe, Cryptorchidism OMIM:600118
Pseudohypoparathyroidism Type 1C
Delayed eruption of teeth, Increased bone mineral density, Hypergonadotropic hypogonadism, Decrea... ORPHA:79444
Odontomicronychial Dysplasia
Premature eruption of permanent teeth OMIM:601319
17P13.3 Microduplication Syndrome
Clinodactyly of the 5th finger, Congenital hip dislocation, Ventriculomegaly ORPHA:217385
Renal Hypodysplasia/Aplasia 1
Talipes equinovarus, Pulmonary hypoplasia OMIM:191830
Noonan Syndrome 9
Ventricular septal defect, Pulmonic stenosis, Coarctation of aorta OMIM:616559
Familial Multiple Lipomatosis
Premature eruption of permanent teeth, Odontogenic keratocysts of the jaw, Ventriculomegaly ORPHA:199276
Gardner Syndrome
Neoplasm of the pancreas, Duodenal polyposis, Abnormality of the dentition, Adrenocortical carcin... ORPHA:79665
Codas Syndrome
Delayed eruption of teeth, Ventriculomegaly, Cryptorchidism, Generalized joint laxity, Sensorineu... OMIM:600373
Autosomal Recessive Spastic Paraplegia Type 53
Upper limb hypertonia, Ventriculomegaly, Pectus carinatum ORPHA:319199
Mckusick-Kaufman Syndrome
Finger syndactyly, Aganglionic megacolon, Tarsal synostosis, Ventricular septal defect, Postaxial... ORPHA:2473
Hypoglossia-Hypodactylia
Micrognathia, Aglossia, Narrow mouth, Microglossia, Retrognathia OMIM:103300
19P13.12 Microdeletion Syndrome
Short palm, Finger syndactyly, Atrial septal defect, Aortic regurgitation, Sandal gap, Ventricula... ORPHA:254346
Joubert Syndrome 25
Molar tooth sign on MRI OMIM:616781
Congenital Disorder Of Glycosylation, Type Iih
Finger clinodactyly, Talipes equinovarus, Clinodactyly of the 3rd toe, Bilateral coxa valga, Clin... OMIM:611182
Intellectual Developmental Disorder, Autosomal Recessive 41
Prominent fingertip pads, Recurrent pneumonia, Clinodactyly of the 5th finger, Ventriculomegaly OMIM:615637
Pachyonychia Congenita 2
Oral leukoplakia, Natal tooth, Angular cheilitis OMIM:167210
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 3
Polydactyly, Hypoplastic ischia OMIM:616910
Restrictive Dermopathy 1
Natal tooth, Atrial septal defect, Rocker bottom foot, Thin clavicles, Patent ductus arteriosus, ... OMIM:275210
Neurodevelopmental Disorder With Or Without Autism Or Seizures
Absent thumb, Submucous cleft hard palate, Pulmonic stenosis, Atrial septal defect, Bifid uvula OMIM:619239
Microcephaly-Corpus Callosum And Cerebellar Vermis Hypoplasia-Facial Dysmorphism-Intellectual Disability Syndrom
Bicuspid aortic valve, Ventricular septal defect, Patent ductus arteriosus, Recurrent pneumonia, ... ORPHA:500159
Spondylometaphyseal Dysplasia, Algerian Type
Metaphyseal dysplasia, Bowed humerus, Anterior rib cupping, Short tubular bones of the hand, Tibi... OMIM:184253
Bnar Syndrome
Anteriorly placed anus, Anal stenosis, Short lingual frenulum ORPHA:217266
Rothmund-Thomson Syndrome Type 2
Osteopenia, Abnormal trabecular bone morphology, Delayed eruption of teeth, Abnormal dental ename... ORPHA:221016
Pfeiffer Syndrome
Finger syndactyly, Brachydactyly, Symphalangism affecting the phalanges of the hand, Hip dysplasi... ORPHA:710
Amelogenesis Imperfecta, Type Ig
Dagger-shaped pulp calcifications, Gingival fibromatosis, Gingival overgrowth, Delayed eruption o... OMIM:204690
Weiss-Kruszka Syndrome
Bicuspid aortic valve, Single transverse palmar crease, Proximal placement of thumb, Ventricular ... OMIM:618619
Renpenning Syndrome
Pectus excavatum, Abnormal thumb morphology, Abnormal rib morphology, Clinodactyly of the 5th fin... ORPHA:3242
Robinow Syndrome, Autosomal Recessive 1
Tented upper lip vermilion, Dental crowding, Micrognathia, Joint laxity, Vertebral fusion, Crypto... OMIM:268310
Microcephaly And Chorioretinopathy, Autosomal Recessive, 1
Abnormality of skin pigmentation, Abnormality of retinal pigmentation, Microphthalmia OMIM:251270
Corpus Callosum, Partial Agenesis Of, X-Linked
Hydrocephalus, Ventriculomegaly, Dislocated radial head OMIM:304100
Laurin-Sandrow Syndrome
Syndactyly, Absent radius, Patellar aplasia, Short foot, Hand polydactyly, Triphalangeal thumb, A... OMIM:135750
Amyotrophic Lateral Sclerosis, Juvenile, With Dementia
Amyotrophic lateral sclerosis OMIM:205200
Juvenile Polyposis/Hereditary Hemorrhagic Telangiectasia Syndrome
Juvenile gastrointestinal polyposis, Pulmonary arteriovenous malformation, Cerebral arteriovenous... OMIM:175050
Isobutyryl-Coa Dehydrogenase Deficiency
Dilated cardiomyopathy, Pulmonic stenosis ORPHA:79159
Developmental Delay With Variable Neurologic And Brain Abnormalities
Microphthalmia, Cubitus valgus, Down-sloping shoulders, Camptodactyly OMIM:619694
Melnick-Needles Syndrome
Delayed eruption of teeth, Obtuse angle of mandible, Micrognathia, Cleft palate, Osteolytic defec... OMIM:309350
Neurodevelopmental Disorder With Structural Brain Anomalies And Dysmorphic Facies
Clinodactyly, Ulnar deviation of the wrist, Hydrocephalus, Ventriculomegaly OMIM:618577
Pseudohypoparathyroidism Type 1A
Delayed eruption of teeth, Increased bone mineral density, Hypergonadotropic hypogonadism, Decrea... ORPHA:79443
Spondylometaepiphyseal Dysplasia, Short Limb-Hand Type
Micromelia, Bowing of the legs, Triangular shaped distal phalanges of the hand, Abnormal calcific... OMIM:271665
Mucopolysaccharidosis, Type Vi
Delayed eruption of teeth, Epiphyseal dysplasia, Pneumonia, Metaphyseal widening, Split hand, Hyd... OMIM:253200
Amyotrophic Lateral Sclerosis 2, Juvenile
Hand muscle atrophy, Amyotrophic lateral sclerosis, Abnormal lower motor neuron morphology, Abnor... OMIM:205100
Corpus Callosum, Agenesis Of, With Facial Anomalies And Robin Sequence
Syndactyly, Proximal placement of thumb, Patent ductus arteriosus, Pierre-Robin sequence, Cleft p... OMIM:217980
Peroxisome Biogenesis Disorder 12A (Zellweger)
Cholelithiasis, Prominence of the premaxilla, Abnormal cortical bone morphology, Hydrocephalus OMIM:614886
Oculodentodigital Dysplasia
Clinodactyly of the 5th finger, Finger syndactyly, Abnormal dental enamel morphology, Short hallu... ORPHA:2710
Noonan Syndrome 10
Atrial septal defect, Mitral stenosis, Ventricular septal defect, Patent ductus arteriosus, Coarc... OMIM:616564
Dihydropyrimidine Dehydrogenase Deficiency
Microphthalmia OMIM:274270
Micrognathia-Recurrent Infections-Behavioral Abnormalities-Mild Intellectual Disability Syndrome
Dental crowding, Abnormality of the dentition, Micrognathia, Eruption failure, High palate, Long ... ORPHA:476126
Neurodevelopmental Disorder With Epilepsy And Hemochromatosis
Delayed eruption of teeth, Limb joint contracture, Flexion contracture, Gingival overgrowth, Alve... OMIM:301072
Laurence-Moon Syndrome
Pigmentary retinopathy, Polydactyly, Abnormality of the hand OMIM:245800
Neurodevelopmental Disorder With Microcephaly, Impaired Language, Epilepsy, And Gait Abnormalities
Syndactyly, Clinodactyly, Arachnodactyly, Widely spaced teeth OMIM:619092
Familial Partial Lipodystrophy, Dunnigan Type
Advanced eruption of teeth, Diabetes mellitus, Polycystic ovaries ORPHA:2348
Cleft Soft Palate
Cleft soft palate OMIM:119570
Holoprosencephaly-Caudal Dysgenesis Syndrome
Abnormal morphology of the radius, Median cleft lip, Radial club hand, Cleft palate, Holoprosence... ORPHA:2165
Short-Rib Thoracic Dysplasia 9 With Or Without Polydactyly
Osteopenia, Ventriculomegaly, Posteriorly rotated ears, Craniosynostosis, Accessory oral frenulum... OMIM:266920
Angelman Syndrome Due To Paternal Uniparental Disomy Of Chromosome 15
Wide mouth, Widely spaced teeth, Mandibular prognathia, Protruding tongue ORPHA:98795
Marden-Walker Syndrome
Posteriorly rotated ears, Camptodactyly of finger, Joint stiffness, Micrognathia, Pyloric stenosi... ORPHA:2461
Foveal Hypoplasia 2
Hypoplasia of the fovea, Microphthalmia OMIM:609218
Cerebrooculofacioskeletal Syndrome 4
Rocker bottom foot, Camptodactyly of finger, Adducted thumb, Flared metaphysis, Hip dislocation, ... OMIM:610758
Hardikar Syndrome
Intrahepatic bile duct cysts, Cholangitis, Hepatic fibrosis, Atrial septal defect, Patent foramen... OMIM:301068
Hemifacial Hyperplasia With Strabismus
Submucous cleft hard palate OMIM:141350
Enamel-Renal Syndrome
Delayed eruption of teeth, Increased circulating osteocalcin level, Abnormality of dental color, ... ORPHA:1031
Amyotrophic Lateral Sclerosis With Polyglucosan Bodies
Amyotrophic lateral sclerosis OMIM:205250
Ulbright-Hodes Syndrome
Short humerus, Short metacarpal, Humeroradial synostosis, Hypoplasia of the radius, Abnormal rib ... ORPHA:3404
Intellectual Developmental Disorder, Autosomal Dominant 4
Syndactyly, Short toe OMIM:612581
Atrioventricular Defect-Blepharophimosis-Radial And Anal Defect Syndrome
Aplasia/Hypoplasia of the thumb, Hypoplasia of the ulna, Absent radius, Ocular albinism, Aplasia ... ORPHA:1352
Isolated Arrhinia
Microphthalmia, Facial cleft ORPHA:1134
Pulmonary Hypertension, Primary, 1
Pulmonary arterial medial hypertrophy, Pulmonary artery vasoconstriction, Arterial intimal fibros... OMIM:178600
Limb-Mammary Syndrome
Absent nipple, Cleft hard palate, Cleft lip, Cleft palate, Protruding ear, Bilateral breast hypop... ORPHA:69085
Monosomy 9P
Congenital diaphragmatic hernia, Proximal placement of thumb, Abnormality of the tarsal bones, Po... ORPHA:261112
Distichiasis With Congenital Anomalies Of The Heart And Peripheral Vasculature
Varicose veins, Patent ductus arteriosus, Peripheral arterial stenosis, Ventricular septal defect OMIM:126320
Chondrodysplasia Punctata 2, X-Linked Dominant
Ventriculomegaly, Rhizomelia, Postaxial polydactyly, Abnormal thorax morphology, Epiphyseal stipp... OMIM:302960
Amyotrophic Lateral Sclerosis 11
Amyotrophic lateral sclerosis OMIM:612577
Polyvalvular Heart Disease Syndrome
Abnormal heart valve morphology, Mitral valve prolapse, High palate, Pulmonic stenosis, Aortic va... ORPHA:228410
Joubert Syndrome 31
Molar tooth sign on MRI OMIM:617761
Sandestig-Stefanova Syndrome
Rocker bottom foot, Muscular ventricular septal defect, Perimembranous ventricular septal defect,... OMIM:618804
Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts
Neonatal death, Microphthalmia, Ventricular septal defect, Cryptorchidism OMIM:613730
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome
Hepatomegaly, Inguinal hernia, Overlapping toe, Single transverse palmar crease, Arachnodactyly, ... ORPHA:83617
Amyotrophic Lateral Sclerosis 9
Amyotrophic lateral sclerosis OMIM:611895
Knobloch Syndrome 1
Occipital encephalocele, Patent ductus arteriosus, Macular hypoplasia, Occipital meningocele, Spi... OMIM:267750
Band Heterotopia
Hydrocephalus, Ventriculomegaly, Lateral ventricle dilatation OMIM:600348
Microphthalmia, Syndromic 8
Microphthalmia, Split foot, Cryptorchidism OMIM:601349
Cronkhite-Canada Syndrome
Intestinal polyposis, Malabsorption, Hypogeusia, Furrowed tongue, Hamartomatous polyposis, Colon ... ORPHA:2930
Dysmorphism-Short Stature-Deafness-Difference Of Sex Development Syndrome
Cleft soft palate, Micrognathia, Cryptorchidism, Microtia, Submucous cleft soft palate, Hearing i... ORPHA:2282
Cardiofacioneurodevelopmental Syndrome
Ventricular septal defect, Asplenia, Cleft palate, Abdominal situs inversus, Pulmonic stenosis, C... OMIM:619123
Blepharo-Cheilo-Odontic Syndrome
Finger syndactyly, Conical tooth, Carious teeth, Bilateral cleft lip and palate, Anal atresia ORPHA:1997
Loeys-Dietz Syndrome 3
Tortuous cerebral arteries, Bicuspid aortic valve, High palate, Atrial septal defect, Abdominal a... OMIM:613795
Microcephalic Osteodysplastic Primordial Dwarfism Type Ii
Recurrent respiratory infections, Atrial septal defect, Micromelia, Abnormal cerebral vascular mo... ORPHA:2637
Pseudo-Torch Syndrome 2
Cerebral hemorrhage, Secundum atrial septal defect, Patent ductus arteriosus, Thin ribs, Lateral ... OMIM:617397
Campomelia, Cumming Type
Bowing of the long bones, Micromelia, Abnormal thorax morphology, Abnormal rib morphology, Clubbi... ORPHA:1318
Microphthalmia, Isolated, With Coloboma 7
Microphthalmia OMIM:614497
Acquired Hypertrichosis Lanuginosa
Macroglossia, Glossitis, Ovarian neoplasm ORPHA:2221
Spastic Paraplegia 9A, Autosomal Dominant
Abnormal upper motor neuron morphology, Abnormal pelvic girdle bone morphology, Carpal bone hypop... OMIM:601162
Blepharophimosis-Intellectual Disability Syndrome, Sbbys Type
Thyroid dysgenesis, Thyroid hypoplasia, Posteriorly rotated ears, Camptodactyly of finger, Microg... ORPHA:3047
Short-Rib Thoracic Dysplasia 15 With Polydactyly
Postaxial polydactyly, Postaxial hand polydactyly, Patent ductus arteriosus, Aplasia of the epigl... OMIM:617088
Microphthalmia, Isolated 2
Microphthalmia OMIM:610093
Microcephaly-Lymphedema-Chorioretinopathy Syndrome
Anophthalmia, Edema, Lymphedema, Thick vermilion border, Chylothorax, Long philtrum, Atrial septa... ORPHA:2526
Autosomal Recessive Kenny-Caffey Syndrome
Stenosis of the medullary cavity of the long bones, Thin clavicles, Small hand, Thin ribs, Short ... ORPHA:93324
Branchial Arch Syndrome, X-Linked
High, narrow palate, High palate, Pulmonic stenosis OMIM:301950
Prkar1B-Related Neurodegenerative Dementia With Intermediate Filaments
Motor neuron atrophy, Spinocerebellar tract degeneration, Abnormal neuron morphology ORPHA:412066
Cornelia De Lange Syndrome
Micromelia, Proximal placement of thumb, Congenital diaphragmatic hernia, High palate, Gastroesop... ORPHA:199
Temtamy Syndrome
Hip dislocation, Aortic aneurysm, Short 2nd toe, Talipes equinovarus, Microphthalmia, Ventriculom... OMIM:218340
Lead Poisoning
Delayed eruption of teeth, Miscarriage, Cranial hyperostosis, Decreased circulating osteocalcin l... ORPHA:330015
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 1, With Or Without Fractures
Bicuspid aortic valve, Metaphyseal widening, Delayed proximal femoral epiphyseal ossification, Fl... OMIM:271640
Bardet-Biedl Syndrome 3
Tricuspid regurgitation, Postaxial polydactyly, Brachydactyly OMIM:600151
Amoebiasis Due To Free-Living Amoebae
Myocardial necrosis, Abnormal medulla oblongata morphology, Abnormal midbrain morphology, Abnorma... ORPHA:68
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 5
Amyotrophic lateral sclerosis OMIM:619141
Dominant Beta-Thalassemia
Hypoparathyroidism, Diabetes mellitus, Malar prominence, Abnormality of the dentition, Osteoporos... ORPHA:231226
Joubert Syndrome 35
Molar tooth sign on MRI, Elongated superior cerebellar peduncle, Single transverse palmar crease OMIM:618161
Aspergillosis
Pneumonia, Hypersensitivity pneumonitis, Abnormal rib morphology, Bronchiectasis, Abnormal long b... ORPHA:1163
Spondyloepimetaphyseal Dysplasia, X-Linked
Pectus carinatum, Long fibula, Short palm, Short phalanx of finger, Broad metacarpals, Genu varum... OMIM:300106
Cleft Palate, Cardiac Defect, Genital Anomalies, And Ectrodactyly
Ventricular septal defect, Absent pulmonary artery, Split hand, Patent ductus arteriosus, Clubbin... OMIM:600460
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 3
Hypoplasia of the ulna, Tapered finger, Hip dislocation, Thin ribs, Delayed ossification of carpa... OMIM:618395
Autosomal Recessive Malignant Osteopetrosis
Delayed eruption of teeth, Recurrent fractures, Craniosynostosis, Premature loss of primary teeth... ORPHA:667
Overgrowth-Macrocephaly-Facial Dysmorphism Syndrome
Optic nerve hypoplasia, Aplasia/Hypoplasia of the optic nerve, Abnormal pulmonary valve morpholog... ORPHA:137634
Trisomy 8P
Short fourth metatarsal, Multiple joint contractures, Single transverse palmar crease, Abnormal a... ORPHA:264450
Cardiomyopathy, Dilated, 1S
Bicuspid aortic valve, Dilated cardiomyopathy, Ebstein anomaly of the tricuspid valve, Coarctatio... OMIM:613426
49,Xyyyy Syndrome
Abnormality of the epiphyses of the elbow, Large carpal bones, Recurrent upper respiratory tract ... ORPHA:99330
Microphthalmia, Isolated, With Coloboma 3
Microphthalmia OMIM:610092
Machado-Joseph Disease Type 3
Abnormal lower motor neuron morphology, Substantia nigra gliosis, Degeneration of anterior horn c... ORPHA:276244
X-Linked Cerebral-Cerebellar-Coloboma Syndrome
Hydrocephalus, Supernumerary ribs, Dandy-Walker malformation, Ventriculomegaly ORPHA:163961
Multiple Benign Circumferential Skin Creases On Limbs
Edema, Cryptorchidism, Upper limb asymmetry, Umbilical hernia, Microphthalmia, Irregular hyperpig... ORPHA:2505
Intellectual Developmental Disorder, X-Linked, Syndromic 34
Joint laxity, Dental crowding, High, narrow palate, Narrow mouth, Dysplastic corpus callosum, Cry... OMIM:300967
Nasu-Hakola Disease
Hydrocephalus, Abnormal epiphysis morphology, Ventriculomegaly ORPHA:2770
Christianson Syndrome
Pectus excavatum, Abnormal thorax morphology, Ventriculomegaly, Adducted thumb ORPHA:85278
Dihydropyrimidine Dehydrogenase Deficiency
Delayed eruption of teeth, Deep philtrum, Large earlobe, High palate, Macular hypoplasia, Open mo... ORPHA:1675
Kyphomelic Dysplasia
Short humerus, Short metacarpal, Radial bowing, Short femur, Bowed humerus, Micromelia, Anterior ... OMIM:211350
Xeroderma Pigmentosum, Complementation Group G
Microphthalmia OMIM:278780
Myopathy, Myofibrillar, 7
Tongue atrophy, Multiple joint contractures, Limited hip extension, Shoulder flexion contracture,... OMIM:617114
Osteoporosis-Pseudoglioma Syndrome
Crumpled long bones, Metaphyseal widening, Abnormal femoral neck/head morphology, Microphthalmia,... ORPHA:2788
X Small Rings
Thin upper lip vermilion, Toe syndactyly, Bicuspid aortic valve, Ventricular septal defect, Taper... ORPHA:96201
Cerebellofaciodental Syndrome
Ventricular septal defect, Single transverse palmar crease, Tapered finger, Hypoplasia of the pon... OMIM:616202
Amyotrophic Lateral Sclerosis 6 With Or Without Frontotemporal Dementia
Amyotrophic lateral sclerosis OMIM:608030
Ciliary Dyskinesia, Primary, 20
Atrial situs inversus, Recurrent respiratory infections, Ventricular septal defect, Dextrocardia,... OMIM:615067
Noonan Syndrome 2
Atrial septal defect, Abnormal coronary artery origin, Mitral stenosis, Ventricular septal defect... OMIM:605275
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
Rhizomelic Skeletal Dysplasia With Or Without Pelger-Huet Anomaly
Femoral bowing, Short 5th metacarpal, Radial bowing, Broad hallux, Rhizomelia, Short femoral neck... OMIM:618019
Osteogenesis Imperfecta, Type Ix
Pectus excavatum, Pectus carinatum, Short lower limbs, Beaded ribs OMIM:259440
Campomelic Dysplasia
Thoracic scoliosis, Anterior tibial bowing, Delayed epiphyseal ossification, Patellar hypoplasia,... OMIM:114290
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked
Mandibular prognathia, Posteriorly rotated ears, Protruding tongue, Diastema, Absent frontal sinu... OMIM:301040
Bifid Nose With Or Without Anorectal And Renal Anomalies
Short lingual frenulum, Posteriorly rotated ears, Precocious puberty, Anteriorly placed anus, Wid... OMIM:608980
Osteopetrosis With Renal Tubular Acidosis
Recurrent fractures, Persistence of primary teeth, Abnormality of the dentition, Micrognathia, Ma... ORPHA:2785
Neurodevelopmental Disorder With Microcephaly, Impaired Language, And Gait Abnormalities
Syndactyly, Clinodactyly OMIM:619091
Rothmund-Thomson Syndrome Type 1
Osteopenia, Abnormal trabecular bone morphology, Delayed eruption of teeth, Abnormal dental ename... ORPHA:221008
Amyotrophic Lateral Sclerosis 1
Degeneration of anterior horn cells, Amyotrophic lateral sclerosis OMIM:105400
Fibular Aplasia, Tibial Campomelia, And Oligosyndactyly Syndrome
Syndactyly, Abnormality of the hand, Hand oligodactyly, Tibial bowing, Foot oligodactyly, Short t... OMIM:246570
Shwachman-Diamond Syndrome
Osteopenia, Delayed eruption of teeth, Hypopituitarism, Osteomyelitis, Sinusitis, Decreased respo... ORPHA:811
Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome
Thin upper lip vermilion, Supernumerary nipple, Pyloric stenosis, Submucous cleft hard palate, La... ORPHA:457279
Neurooculocardiogenitourinary Syndrome
Ventricular septal defect, Cardiomegaly, Bilateral cryptorchidism, Patent foramen ovale, Atrial s... OMIM:618652
Myoclonic-Astatic Epilepsy
Syndactyly, Thin upper lip vermilion, Thick lower lip vermilion, Wide mouth, Long philtrum, Micro... ORPHA:1942
Mungan Syndrome
Barrett esophagus, Intestinal pseudo-obstruction, Hypoperistalsis, Perimembranous ventricular sep... OMIM:611376
Microphthalmia-Brain Atrophy Syndrome
Abnormal pons morphology, Bilateral microphthalmos, Atrophy/Degeneration affecting the brainstem ORPHA:77299
Angelman Syndrome Due To A Point Mutation
Wide mouth, Widely spaced teeth, Mandibular prognathia, Protruding tongue ORPHA:411511
Cockayne Syndrome B
Mandibular prognathia, Abnormal pinna morphology, Delayed eruption of primary teeth, Abnormal aud... OMIM:133540
Cerebellar-Facial-Dental Syndrome
Ventricular septal defect, Single transverse palmar crease, Abnormal midbrain morphology, Tapered... ORPHA:444072
Camptobrachydactyly
Finger syndactyly, Aplasia/Hypoplasia of the thumb, Toe syndactyly, Camptodactyly of finger, Ulna... ORPHA:1319
Bazex-Dupre-Christol Syndrome
Joint hypermobility, Furrowed tongue OMIM:301845
Amyotrophic Lateral Sclerosis, Susceptibility To, 25
Amyotrophic lateral sclerosis OMIM:617921
Microcephaly-Cervical Spine Fusion Anomalies Syndrome
Pectus excavatum, Abnormal clavicle morphology, Abnormal rib morphology, Abnormal hip bone morpho... ORPHA:2522
Spondylocostal Dysostosis With Anal Atresia And Urogenital Anomalies
Missing ribs, Rib fusion, Thin ribs, Pulmonary hypoplasia, Short ribs OMIM:271520
Moyamoya Disease
Abnormal cerebral vascular morphology, Ventriculomegaly ORPHA:2573
Microphthalmia, Isolated 6
Microphthalmia OMIM:613517
Sifrim-Hitz-Weiss Syndrome
Ventricular septal defect, Tapered finger, Patent ductus arteriosus, Flat acetabular roof, Coarct... OMIM:617159
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 1
Sensorineural hearing impairment, Submucous cleft hard palate, Spinal dysraphism, Incomplete part... OMIM:617660
Epidermolysis Bullosa, Junctional 1B, Severe
Carious teeth, Syndactyly, Enamel hypoplasia, Pyloric stenosis OMIM:226700
Endove Syndrome, Limb-Only Type
Short middle phalanx of the 2nd finger, Fibular hypoplasia, Disproportionate shortening of the ti... OMIM:619217
Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Impaired Intellectual Development, And Ear Anomalies Syndrome
Delayed eruption of teeth, Uplifted earlobe, Cleft lip, Conductive hearing impairment, Thick lowe... OMIM:280000
Developmental And Epileptic Encephalopathy 31B
Protruding tongue, Gingival overgrowth, Colpocephaly, Low-set ears, Agenesis of corpus callosum, ... OMIM:620352
C Syndrome
Low-set, posteriorly rotated ears, Hypoplasia of the ear cartilage, Death in infancy, Accessory o... ORPHA:1308
Pfeiffer Syndrome Type 3
Finger syndactyly, Broad hallux phalanx, Toe syndactyly, Intestinal malrotation, Short hallux, Ha... ORPHA:93260
Keutel Syndrome
Ventricular septal defect, Recurrent bronchitis, Short hallux, Premature fusion of phalangeal epi... OMIM:245150
Roberts Syndrome
Aplasia/Hypoplasia of the thumb, Proximal placement of thumb, Polyhydramnios, High palate, Clinod... ORPHA:3103
Malan Overgrowth Syndrome
Optic disc hypoplasia, Pectus excavatum, Slender long bone, Lateral ventricle dilatation, Ventric... ORPHA:420179
Ravine Syndrome
Abnormal brainstem morphology, Atrophy/Degeneration affecting the brainstem ORPHA:99852
Linear Verrucous Nevus Syndrome
Aplasia/Hypoplasia of the fovea, Short metacarpal, Toe syndactyly, Ventriculomegaly, Dandy-Walker... ORPHA:2611
Cranioectodermal Dysplasia 3
Rhizomelia, Sandal gap, Postaxial polydactyly, 2-4 toe syndactyly, 2-3 toe syndactyly, Cirrhosis,... OMIM:614099
Cranioectodermal Dysplasia 2
Cholangitis, High palate, Atrial septal defect, Patent foramen ovale, Syndactyly, Hepatomegaly, R... OMIM:613610
Oculocerebral Hypopigmentation Syndrome, Preus Type
Arachnodactyly, Hydrocephalus, White hair, Ocular albinism, Abnormal brainstem morphology, Abnorm... ORPHA:2720
Stüve-Wiedemann Syndrome
Osteopenia, Flexion contracture of finger, Recurrent fractures, Camptodactyly of finger, Abnormal... ORPHA:3206
Mucopolysaccharidosis Type 4
Bowing of the long bones, Abnormal heart valve morphology, Coxa valga, Short thorax, Abnormal rib... ORPHA:582
Genitopatellar Syndrome
Hip contracture, Anal stenosis, Congenital hip dislocation, Ventricular septal defect, Patellar a... OMIM:606170
Neurodevelopmental Disorder With Growth Retardation, Dysmorphic Facies, And Corpus Callosum Abnormalities
Ulnar deviation of the hand, Ventricular septal defect, Proximal placement of thumb, Patent foram... OMIM:620113
Neurofibromatosis-Noonan Syndrome
Hypertrophic cardiomyopathy, Pulmonic stenosis, Dysphagia ORPHA:638
Blepharonasofacial Malformation Syndrome
Finger syndactyly, Non-midline cleft lip, Cleft palate, Tooth agenesis, Long philtrum ORPHA:1252
Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome
Microphthalmia, Camptodactyly of finger ORPHA:48431
Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion
Cleft soft palate, Decreased response to growth hormone stimulation test, Premature thelarche, Ab... ORPHA:268261
Kenny-Caffey Syndrome, Type 1
Long clavicles, Thin clavicles, Small hand, Thin ribs, Short foot, Slender long bone, Short palm OMIM:244460
Oculodentodigital Dysplasia
Atrial septal defect, Selective tooth agenesis, Microdontia, Cleft upper lip, Carious teeth, 4-5 ... OMIM:164200
Pomt2-Related Limb-Girdle Muscular Dystrophy R14
Scapular winging, Dilated cardiomyopathy, Ventriculomegaly ORPHA:206559
Cornelia De Lange Syndrome 3 With Or Without Midline Brain Defects
Atrial septal defect, Toe syndactyly, Bicuspid aortic valve, Single transverse palmar crease, Pro... OMIM:610759
Amyotrophic Lateral Sclerosis 27, Juvenile
Tongue atrophy, Tongue fasciculations OMIM:620285
Sweeney-Cox Syndrome
2-4 finger syndactyly, 2-5 finger cutaneous syndactyly, Polyhydramnios, Long fingers, Narrow mout... OMIM:617746
Stromme Syndrome
Jejunal atresia, Intestinal malrotation, Optic nerve hypoplasia, Hydrocephalus, Preaxial polydact... OMIM:243605
Mucolipidosis Iii Alpha/Beta
Soft tissue swelling of interphalangeal joints, Irregular carpal bones, Split hand, Short long bo... OMIM:252600
Deafness, Onychodystrophy, Osteodystrophy, Impaired Intellectual Development, And Seizures Syndrome
Atrial septal defect, Ventriculomegaly, Ventricular septal defect, Patent ductus arteriosus, Shor... OMIM:220500
Chromosome 3Q13.31 Deletion Syndrome
Ventriculomegaly, Proximal placement of thumb, Alobar holoprosencephaly OMIM:615433
Mend Syndrome
Overlapping toe, Broad hallux, Long fingers, Hydrocephalus, 2-3 toe syndactyly, Polydactyly, High... OMIM:300960
Ataxia-Telangiectasia-Like Disorder 2
Joint contracture, Congenital diaphragmatic hernia, Dysphagia OMIM:615919
Pontocerebellar Hypoplasia Type 10
Abnormal brainstem morphology ORPHA:411493
Roifman-Chitayat Syndrome
Short metacarpal, Pneumonia, Short metatarsal, Cone-shaped epiphysis, Umbilical hernia, Ventricul... OMIM:613328
Toe Syndactyly, Telecanthus, And Anogenital And Renal Malformations
Atrial septal defect, Toe syndactyly, Bicuspid aortic valve, Single transverse palmar crease, Val... OMIM:300707
Cri-Du-Chat Syndrome
Syndactyly, Short metacarpal, Single transverse palmar crease, Metatarsus adductus, Thick lower l... OMIM:123450
Scalp-Ear-Nipple Syndrome
Delayed eruption of teeth, Underdeveloped antitragus, Abnormality of the dentition, Abnormal anti... ORPHA:2036
Hyper-Ige Syndrome 3, Autosomal Recessive, With Recurrent Infections
Recurrent respiratory infections, Recurrent pneumonia, Bronchiectasis, High palate, Recurrent sin... OMIM:618282
Spondylometaphyseal Dysplasia, Sedaghatian Type
Short metacarpal, Iliac crest serration, Abnormal scapula morphology, Metaphyseal chondrodysplasi... ORPHA:93317
Familial Bicuspid Aortic Valve
Aortic arch aneurysm, Bicuspid aortic valve, Aortic valve calcification, Coarctation of aorta, As... ORPHA:402075
Angelman Syndrome Due To Maternal 15Q11Q13 Deletion
Limitation of movement at ankles, Mandibular prognathia, Protruding tongue, Wide mouth, Widely sp... ORPHA:98794
Ramon Syndrome
Delayed eruption of teeth, Gingival fibromatosis, Narrow palate, Juvenile rheumatoid arthritis, H... OMIM:266270
Holoprosencephaly 3
Cleft lip, Cleft palate, Holoprosencephaly, Solitary median maxillary central incisor, Malar flat... OMIM:142945
Plummer-Vinson Syndrome
Tongue atrophy, Intra-oral hyperpigmentation, Cheilitis, Esophageal web, Narrow mouth, Glossitis ORPHA:54028
Congenital Gerbode Defect
Ventricular septal defect, Right atrial enlargement, Perimembranous ventricular septal defect, Ba... ORPHA:99095
Legius Syndrome
Multiple lipomas, High palate, High, narrow palate, Supravalvar pulmonary stenosis OMIM:611431
Atrial Septal Defect 1
Tetralogy of Fallot with pulmonary atresia, Bicuspid aortic valve, Ventricular septal defect, Sec... OMIM:108800
Witteveen-Kolk Syndrome
Inguinal hernia, Toe syndactyly, Overlapping toe, Arachnodactyly, Proximal placement of thumb, Co... OMIM:613406
Bardet-Biedl Syndrome 1
Syndactyly, Dental crowding, Aganglionic megacolon, Postaxial polydactyly, High, narrow palate, P... OMIM:209900
Rubinstein-Taybi Syndrome
Finger syndactyly, Broad hallux phalanx, Abnormal distal phalanx morphology of finger, Polyhydram... ORPHA:783
Pallister-Killian Syndrome
Congenital hip dislocation, Single transverse palmar crease, Congenital diaphragmatic hernia, Fle... OMIM:601803
Orofaciodigital Syndrome Xvi
Postaxial foot polydactyly, Postaxial hand polydactyly, Molar tooth sign on MRI OMIM:617563
Coach Syndrome 3
Molar tooth sign on MRI OMIM:619113
Retinitis Pigmentosa 51
Bone spicule pigmentation of the retina, Polydactyly OMIM:613464
Craniodigital-Intellectual Disability Syndrome
Finger syndactyly, Spina bifida occulta ORPHA:1514
Incontinentia Pigmenti
Delayed eruption of teeth, Hypoplasia of the fovea, Supernumerary nipple, Conical tooth, Oligodon... OMIM:308300
49,Xxxyy Syndrome
Recurrent upper respiratory tract infections, Finger clinodactyly, Bilateral talipes equinovarus,... ORPHA:261534
Alport Syndrome-Intellectual Disability-Midface Hypoplasia-Elliptocytosis Syndrome
Supernumerary tooth, Thin vermilion border, Thick vermilion border, Malar flattening, Hearing imp... ORPHA:86818
Amyotrophic Lateral Sclerosis, Susceptibility To, 24
Amyotrophic lateral sclerosis OMIM:617892
Spondylocarpotarsal Synostosis Syndrome
Vertebral fusion, Mixed hearing impairment, Block vertebrae, Tarsal synostosis, Capitate-hamate f... OMIM:272460
Acrofrontofacionasal Dysostosis 2
Syndactyly, Broad hallux, Hand polydactyly, High palate, Broad thumb OMIM:239710
Neurodevelopmental Disorder With Ataxic Gait, Absent Speech, And Decreased Cortical White Matter
Overlapping toe, Single transverse palmar crease, Tapered finger, Hip dysplasia, Bilateral talipe... OMIM:617807
Mutilating Hereditary Sensory Neuropathy With Spastic Paraplegia
Abnormal spinal cord morphology ORPHA:139578
Beta-Thalassemia Major
Hypoparathyroidism, Diabetes mellitus, Malar prominence, Abnormality of the dentition, Osteoporos... ORPHA:231214
Hypogonadism, Male, With Mental Retardation And Skeletal Anomalies
Superior rib anomalies OMIM:307500
5Q14.3 Microdeletion Syndrome
Toe syndactyly, Optic nerve hypoplasia, Ventriculomegaly ORPHA:228384
Intellectual Developmental Disorder With Dysmorphic Facies, Seizures, And Distal Limb Anomalies
Overlapping toe, Down-sloping shoulders, Ventricular septal defect, Tapered finger, Talipes equin... OMIM:617452
Amyotrophic Lateral Sclerosis 18
Amyotrophic lateral sclerosis OMIM:614808
Silver-Russell Syndrome 3
Syndactyly, Patent ductus arteriosus, Small hand, Clinodactyly of the 5th finger, Oligohydramnios OMIM:616489
Sacral Defect With Anterior Meningocele
Myeloschisis, Tethered cord, Myelomeningocele, Meningocele, Hydrocephalus, Dermal sinus tract, Bi... OMIM:600145
Bartsocas-Papas Syndrome
Finger syndactyly, Toe syndactyly, Median cleft lip, Absent thumb, Aplasia/Hypoplasia of the dist... ORPHA:1234
Noonan Syndrome-Like Disorder With Loose Anagen Hair 2
Ventricular septal defect, Optic nerve hypoplasia, Patent ductus arteriosus, Hypoplastic aortic a... OMIM:617506
Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart
Ventriculomegaly, Posteriorly rotated ears, Abnormal pinna morphology, Micrognathia, Cleft lip, S... OMIM:616975
Renal Tubular Acidosis, Distal, With Nephrocalcinosis, Short Stature, Impaired Intellectual Development, And Distinctive Facies
Avascular necrosis of the capital femoral epiphysis, Ventriculomegaly OMIM:611555
Fanconi Anemia, Complementation Group I
Ventricular septal defect, Optic nerve hypoplasia, Absent thumb, Short thumb, Patent foramen oval... OMIM:609053
Noonan Syndrome-Like Disorder With Loose Anagen Hair
Hypertrophic cardiomyopathy, Abnormality of the elbow, Pulmonic stenosis, Brachydactyly ORPHA:2701
Faciocardiomelic Syndrome
Osteopenia, Micrognathia, Dental malocclusion, Wide mouth, Long philtrum, Thin bony cortex, Hyper... OMIM:612731
Tibia, Hypoplasia Or Aplasia Of, With Polydactyly
Short tibia, Preaxial polydactyly, Triphalangeal thumb, Absent tibia, Fibular duplication OMIM:188740
Intellectual Developmental Disorder, X-Linked 99, Syndromic, Female-Restricted
Recurrent respiratory infections, Ventriculomegaly, Postaxial polydactyly, Tapered finger, Patent... OMIM:300968
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies
Mandibular prognathia, Hyperextensibility of the finger joints, Dental crowding, Decreased respon... OMIM:619503
Holoprosencephaly 12 With Or Without Pancreatic Agenesis
Absent gallbladder, Diabetes insipidus, Sensorineural hearing impairment, Lobar holoprosencephaly... OMIM:618500
Filippi Syndrome
Enlarged epiphyses, Finger syndactyly, Ventricular septal defect, Thin vermilion border, Short ph... ORPHA:3255
Bifid Uvula
Submucous cleft soft palate, Cleft lip, Bifid uvula ORPHA:99771
Noonan Syndrome With Multiple Lentigines
Abnormal endocardium morphology, Scapular winging, Abnormal pulmonary valve morphology, Aplasia/H... ORPHA:500
Dpagt1-Cdg
Elevated hepatic transaminase, Hepatomegaly, Arachnodactyly, Lipodystrophy, Flexion contracture, ... ORPHA:86309
Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To 5Q31.3 Microdeletion
Tented upper lip vermilion, Deep philtrum, Abnormal heart morphology, High palate, Polydactyly ORPHA:314655
Hurler Syndrome
Abnormal clavicle morphology, Recurrent respiratory infections, Abnormal heart valve morphology, ... ORPHA:93473
Neurofaciodigitorenal Syndrome
Mandibular prognathia, Abnormality of the philtrum, Hypoplasia of the premaxilla, Abnormal oral m... ORPHA:2673
Multiple Osteochondromas
Deformed radius, Abnormal hand morphology, Abnormal tibia morphology, Metaphyseal widening, Abnor... ORPHA:321
Amastia, Bilateral, With Ureteral Triplication And Dysmorphism
Syndactyly, Congenital hip dislocation, Patent ductus arteriosus, Hydrocephalus, Mitral valve pro... OMIM:104350
Coloboma-Obesity-Hypogenitalism-Mental Retardation Syndrome
Microphthalmia, Hydrocephalus, Cryptorchidism OMIM:601794
Catel-Manzke Syndrome
Joint laxity, Cleft upper lip, Micrognathia, Narrow mouth, Cryptorchidism, Pierre-Robin sequence,... OMIM:616145
Coloboma, Ocular, With Or Without Hearing Impairment, Cleft Lip/Palate, And/Or Impaired Intellectual Development
Microphthalmia OMIM:120433
Coffin-Siris Syndrome
Joint laxity, Thin upper lip vermilion, Delayed eruption of teeth, Cryptorchidism, Thick lower li... ORPHA:1465
Adnp Syndrome
Joint laxity, Thin upper lip vermilion, Ventriculomegaly, Cryptorchidism, Thick lower lip vermili... ORPHA:404448
Adult Krabbe Disease
Abnormal pons morphology, Abnormal medulla oblongata morphology, Abnormal midbrain morphology ORPHA:206448
Pitt-Hopkins Syndrome
Aganglionic megacolon, Supernumerary nipple, Hiatus hernia, Cryptorchidism, Wide mouth, Thick ver... ORPHA:2896
Cataract 9, Multiple Types
Microphthalmia OMIM:604219
Subaortic Stenosis-Short Stature Syndrome
Membranous subvalvular aortic stenosis, Subvalvular aortic stenosis, Microphthalmia, Synostosis o... ORPHA:3191
Tolchin-Le Caignec Syndrome
Abnormal vestibular function, Micrognathia, Precocious puberty, Sensorineural hearing impairment,... OMIM:618971
Early-Onset Seizures-Distal Limb Anomalies-Facial Dysmorphism-Global Developmental Delay Syndrome
Hyperextensibility of the finger joints, Toe syndactyly, Arachnodactyly, Overlapping toe, Ventric... ORPHA:505237
Refsum Disease
Abnormality of retinal pigmentation, Short metacarpal, Cardiomyopathy, Hammertoe, Abnormal epiphy... ORPHA:773
Spinocerebellar Ataxia Type 36
Vertigo, Tongue atrophy, Tongue fasciculations, Hearing impairment ORPHA:276198
Pulmonic Stenosis, Atrial Septal Defect, And Unique Electrocardiographic Abnormalities
Secundum atrial septal defect, Pulmonic stenosis OMIM:178650
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy
Diabetes mellitus, Decreased adiponectin level, Decreased serum leptin, Micrognathia, Osteolytic ... ORPHA:280365
Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies
Intestinal malrotation, Cleft soft palate, Optic nerve hypoplasia, Hydrocephalus, Flexion contrac... OMIM:619321
Xylt1-Cdg
Coxa valga, Flared metaphysis, Short long bone, Short femoral neck, Short clavicles, Broad ribs, ... ORPHA:370930
Thoracic Outlet Syndrome
Varicose veins, Abnormal rib morphology ORPHA:97330
Ulna And Fibula, Absence Of, With Severe Limb Deficiency
Femoral bowing, Pectus carinatum, Foot oligodactyly, Aplasia/Hypoplasia of the tarsal bones, Phoc... OMIM:276820
Ritscher-Schinzel Syndrome 3
Hypoplasia of the ulna, Cryptorchidism, Ulnar bowing, Shortening of all distal phalanges of the f... OMIM:619135
Heart Defect-Tongue Hamartoma-Polysyndactyly Syndrome
Patent ductus arteriosus, 2-3 finger syndactyly, Hamartoma of tongue, Subvalvular aortic stenosis ORPHA:1338
Camptobrachydactyly
Syndactyly, Short toe, Hand polydactyly, Congenital finger flexion contractures, Brachydactyly OMIM:114150
Wiedemann-Rautenstrauch Syndrome
Osteopenia, Optic disc hypoplasia, Decreased response to growth hormone stimulation test, Abnorma... ORPHA:3455
Spinocerebellar Ataxia 36
Tongue atrophy, Tongue fasciculations, Hearing impairment OMIM:614153
Koolen-De Vries Syndrome
Atrial septal defect, Bicuspid aortic valve, Ventricular septal defect, Pyloric stenosis, Patent ... OMIM:610443
Microcephaly-Corpus Callosum Hypoplasia-Intellectual Disability-Facial Dysmorphism Syndrome
Broad hallux, Optic nerve hypoplasia, Postaxial polydactyly, Pectus excavatum, Hydrocephalus, Hyp... ORPHA:457284
Methylmalonate Semialdehyde Dehydrogenase Deficiency
Microphthalmia, Retinal pigment epithelial mottling, Broad hallux, Single transverse palmar crease OMIM:614105
Alagille Syndrome
Hypoplasia of the ulna, Atrial septal defect, Ventricular septal defect, Abnormal rib morphology,... ORPHA:52
Noonan Syndrome 7
Deep palmar crease, Impaired oropharyngeal swallow response, Pulmonic stenosis, Dysphagia, Atrial... OMIM:613706
Gm1-Gangliosidosis, Type Ii
Ventriculomegaly, Protruding tongue, Joint stiffness, Gingival overgrowth, Narrow mouth, Thin bon... OMIM:230600
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 12
Hypoplasia of the brainstem, Microphthalmia, Hydrocephalus, Abnormally large globe OMIM:615249
Odontoonychodermal Dysplasia
Abnormality of primary teeth, Agenesis of permanent teeth, Conical incisor, Widely spaced primary... OMIM:257980
Snijders Blok-Campeau Syndrome
Inguinal hernia, Perimembranous ventricular septal defect, High palate, Pulmonic stenosis, Atrial... OMIM:618205
Postaxial Acrofacial Dysostosis
Hypoplasia of the ulna, Finger syndactyly, Camptodactyly of finger, Non-midline cleft lip, Hypopl... ORPHA:246
Spondylocostal Dysostosis 2, Autosomal Recessive
Recurrent respiratory infections, Rib fusion OMIM:608681
Frontoocular Syndrome
Atrial septal defect, High palate, Pulmonic stenosis OMIM:605321
Cockayne Syndrome A
Mandibular prognathia, Hip contracture, Abnormal pinna morphology, Delayed eruption of primary te... OMIM:216400
Occipital Horn Syndrome
Venous insufficiency, High, narrow palate, Coxa vara, Humerus varus, Gastroesophageal reflux, Sho... ORPHA:198
Microphthalmia, Syndromic 13
Microphthalmia OMIM:300915
Amyotrophic Lateral Sclerosis 20
Amyotrophic lateral sclerosis OMIM:615426
Congenital Anomalies Of Kidney And Urinary Tract Syndrome With Or Without Hearing Loss, Abnormal Ears, Or Developmental Delay
Congenital diaphragmatic hernia, Vascular dilatation, Abnormal heart morphology OMIM:617641
Osteogenesis Imperfecta, Type X
Multiple rib fractures, Bowing of the long bones, Short femur, Rhizomelia, Thoracic scoliosis, Mi... OMIM:613848
Aneurysm-Osteoarthritis Syndrome
High palate, Bifid uvula, Abdominal aortic aneurysm, Arachnodactyly, Arterial tortuosity, Patent ... ORPHA:284984
Facial Dysmorphism, Hypertrichosis, Epilepsy, Intellectual/Developmental Delay, And Gingival Overgrowth Syndrome
Optic nerve hypoplasia, Hip dysplasia, Clinodactyly of the 5th finger, Ventriculomegaly, Brachyda... OMIM:618381
Congenital Disorder Of Glycosylation, Type Iie
Death in infancy, Protruding tongue, Micrognathia, Sensorineural hearing impairment, Thick vermil... OMIM:608779
Braddock-Carey Syndrome 2
Microphthalmia, Clinodactyly OMIM:619981
Acrofacial Dysostosis, Rodríguez Type
Finger syndactyly, Aqueductal stenosis, Hand oligodactyly, Fibular hypoplasia, Radioulnar synosto... ORPHA:1788
Chromosome 8Q21.11 Deletion Syndrome
Syndactyly, Short metacarpal, Exaggerated cupid's bow, Cleft palate, Downturned corners of mouth,... OMIM:614230
Osteogenesis Imperfecta, Type Xvi
Angulated humerus, Multiple rib fractures, Bowing of the long bones, Rhizomelia, Beaded ribs, Sho... OMIM:616229
Beckwith-Wiedemann Syndrome
Omphalocele, Hepatomegaly, Inguinal hernia, Diastasis recti, Congenital diaphragmatic hernia, Car... ORPHA:116
Intellectual Developmental Disorder, Autosomal Dominant 43
Tapered finger, Hip dysplasia, High palate, Gastroesophageal reflux, Pulmonic stenosis, Umbilical... OMIM:616977
Microcephaly 26, Primary, Autosomal Dominant
Protruding tongue, Dysplastic corpus callosum, Gingival overgrowth, Long philtrum, Ventriculomegaly OMIM:619179
X-Linked Mandibulofacial Dysostosis
Abnormal mitral valve morphology, Abnormality of the pulmonary artery, High palate, Pulmonic sten... ORPHA:1131
Complete Atrioventricular Septal Defect
Hepatomegaly, Cardiomegaly, Complete atrioventricular canal defect, Recurrent pneumonia, Primum a... ORPHA:1329
Neurodevelopmental Disorder With Hypotonia, Neonatal Respiratory Insufficiency, And Thermodysregulation
Protruding tongue, Gingival overgrowth, Wide mouth, Low-set ears, Tracheomalacia OMIM:618797
Baraitser-Winter Syndrome 1
Bicuspid aortic valve, Patent ductus arteriosus, Duplication of phalanx of hallux, Microphthalmia... OMIM:243310
Duodenal Atresia
Abnormality of the pancreas, Annular pancreas, Abnormality of the pulmonary artery, Duodenal atresia ORPHA:1203
Charcot-Marie-Tooth Disease, Type 4B3
Syndactyly OMIM:615284
Okur-Chung Neurodevelopmental Syndrome
Thin upper lip vermilion, Protruding tongue, Micrognathia, Cupped ear, High palate, Low-set ears,... OMIM:617062
Psoriasis 14, Pustular
Geographic tongue, Oligoarthritis, Furrowed tongue OMIM:614204
Renal Tubular Dysgenesis
Pulmonary hypoplasia OMIM:267430
Diaphragmatic Hernia 2
Agenesis of the diaphragm, Congenital diaphragmatic hernia OMIM:222400
Marbach-Schaaf Neurodevelopmental Syndrome
Thin upper lip vermilion, Posteriorly rotated ears, Submucous cleft hard palate, Downturned corne... OMIM:619680
Ring Chromosome 10 Syndrome
Microphthalmia, Sandal gap, Tapered finger ORPHA:1438
19Q13.11 Microdeletion Syndrome
Finger syndactyly, Toe syndactyly, Congenital hip dislocation, Ventricular septal defect, Wide mo... ORPHA:217346
Spondylo-Ocular Syndrome
Microphthalmia, Aplasia/Hypoplasia of the lens, Ventricular septal defect, Iris hypopigmentation ORPHA:85194
Multifocal Atrial Tachycardia
Ventricular septal defect, Pulmonic stenosis, Atrial septal defect, Hypertrophic cardiomyopathy, ... ORPHA:3282
Goldberg-Shprintzen Megacolon Syndrome
Finger syndactyly, Aganglionic megacolon, Iris coloboma, Cleft palate ORPHA:66629
Silver-Russell Syndrome Due To Maternal Uniparental Disomy Of Chromosome 7
Syndactyly, Narrow joint spaces of the elbow, Dental crowding, High, narrow palate, Pierre-Robin ... ORPHA:96182
Kleefstra Syndrome Due To 9Q34 Microdeletion
Protruding tongue, Cryptorchidism, Downturned corners of mouth, Macroglossia, Everted lower lip v... ORPHA:96147
Posterior Column Ataxia-Retinitis Pigmentosa Syndrome
Bone spicule pigmentation of the retina, Abnormal spinal cord morphology, Pigmentary retinopathy,... ORPHA:88628
Lennox-Gastaut Syndrome
Abnormal brainstem morphology ORPHA:2382
Ring Chromosome 22 Syndrome
Agenesis of corpus callosum, Macrotia, Thick vermilion border, Protruding tongue ORPHA:1446
Ramos-Arroyo Syndrome
Aganglionic megacolon, Carious teeth, Xerostomia, Smooth tongue, Bilateral sensorineural hearing ... ORPHA:1051
Wrinkly Skin Syndrome
Osteopenia, Delayed eruption of teeth, Carious teeth, Cryptorchidism, Generalized joint laxity, H... ORPHA:2834
9q subtelomeric deletion syndrome
Protruding tongue DECIPHER:52
Fanconi Anemia, Complementation Group F
Polyhydramnios, Absent thumb, Short thumb, Cryptorchidism, Hypoplasia of the radius, 2-3 finger s... OMIM:603467
Carpenter Syndrome 2
Single transverse palmar crease, High, narrow palate, Preaxial polydactyly, Coxa vara, Cutaneous ... OMIM:614976
Gjc2-Related Late-Onset Primary Lymphedema
Venous insufficiency, Abnormal lymphatic vessel morphology, Varicose veins, Hypoplasia of lymphat... ORPHA:568051
Microcephalic Osteodysplastic Primordial Dwarfism, Type I
Single transverse palmar crease, Micromelia, Delayed epiphyseal ossification, Preaxial polydactyl... OMIM:210710
Retinal Degeneration With Nanophthalmos, Cystic Macular Degeneration, And Angle Closure Glaucoma
Microphthalmia OMIM:267760
Klippel-Trenaunay-Weber Syndrome
Syndactyly, Macrodactyly, Lymphedema, Hand oligodactyly, Hand polydactyly OMIM:149000
Antley-Bixler Syndrome
Arachnodactyly, Camptodactyly of finger, Abnormal rib morphology, Femoral bowing, Narrow pelvis b... ORPHA:83
Coffin-Siris Syndrome 4
Atrial septal defect, Ventricular septal defect, Mitral atresia, Patent ductus arteriosus, Cleft ... OMIM:614609
Cardiofaciocutaneous Syndrome 3
Atrial septal defect, Hypertrophic cardiomyopathy, Ventricular septal defect, Pulmonic stenosis OMIM:615279
Brown-Vialetto-Van Laere Syndrome 1
Tongue atrophy, Sensorineural hearing impairment, Tongue fasciculations, Death in childhood, Hear... OMIM:211530
Bent Bone Dysplasia Syndrome 2
Atrial septal defect, Ulnar deviation of the hand, Bowed humerus, Ulnar bowing, Femoral bowing, T... OMIM:620076
Glomuvenous Malformation
Abnormal tracheal morphology, Gastrointestinal arteriovenous malformation, Abnormality of the upp... ORPHA:83454
Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 2
Osteopenia, High-frequency sensorineural hearing impairment, Mixed hearing impairment, Cleft soft... OMIM:614557
Ctcf-Related Neurodevelopmental Disorder
Osteopenia, Thin upper lip vermilion, Low-set, posteriorly rotated ears, Craniosynostosis, Abnorm... ORPHA:363611
Apc-Related Attenuated Familial Adenomatous Polyposis
Neoplasm of the pancreas, Duodenal polyposis, Adrenocortical carcinoma, Supernumerary tooth, Aden... ORPHA:247806
Alpha-N-Acetylgalactosaminidase Deficiency Type 1
Hypertrophic cardiomyopathy, Abnormal brainstem morphology, Lymphedema ORPHA:79279
Tatton-Brown-Rahman Syndrome
Patent ductus arteriosus, Short toe, Widely spaced toes, Aortic root aneurysm, Atrial septal defe... ORPHA:404443
Campomelic Dysplasia
11 pairs of ribs, Bowing of the long bones, Small abnormally formed scapulae, Hip dislocation, Fi... ORPHA:140
Craniofacial Dyssynostosis With Short Stature
Patent ductus arteriosus, Ventricular septal defect, Hydrocephalus, Ventriculomegaly OMIM:218350
Mitochondrial Complex Iv Deficiency, Nuclear Type 10
Microphthalmia, Hypertrophic cardiomyopathy, Single transverse palmar crease, Oligohydramnios OMIM:619053
Neurodevelopmental Disorder With Absent Language And Variable Seizures
Tapered finger, Ventriculomegaly, Short 4th toe, Short 3rd toe OMIM:618707
Spondyloepiphyseal Dysplasia With Congenital Joint Dislocations
Flexion contracture, Tibial bowing, Shoulder dislocation, High palate, Short phalanx of finger, B... OMIM:143095
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency
Femoral bowing, Narrow chest, Abnormality of the wrist, Elbow ankylosis, Short metacarpal, Abnorm... ORPHA:95699
Amyotrophic Lateral Sclerosis 10 With Or Without Frontotemporal Dementia
Amyotrophic lateral sclerosis OMIM:612069
Developmental And Epileptic Encephalopathy 100
Tented upper lip vermilion, Protruding tongue, Micrognathia, Bilateral camptodactyly, Elbow flexi... OMIM:619777
Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 1
Proximal radio-ulnar synostosis, Syndactyly, Radial bowing, Ulnar bowing, Hip dislocation, Clinod... OMIM:605432
Amyotrophic Lateral Sclerosis 15 With Or Without Frontotemporal Dementia
Amyotrophic lateral sclerosis OMIM:300857
Joubert Syndrome 6
Molar tooth sign on MRI, Hypoplasia of the brainstem, Thickened superior cerebellar peduncle, Elo... OMIM:610688
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis
Ventriculomegaly, Metaphyseal widening, Hydrocephalus, Diaphyseal sclerosis, Pectus carinatum, Be... OMIM:618476
Methylmalonic Aciduria And Homocystinuria, Cblj Type
Patent ductus arteriosus, Coarctation of aorta, Bell-shaped thorax, Atrial septal defect, Horizon... OMIM:614857
Cardiofaciocutaneous Syndrome
Low-set, posteriorly rotated ears, Cryptorchidism, Hydrocephalus, Submucous cleft hard palate, Hy... ORPHA:1340
Trisomy 20P
Finger syndactyly, Camptodactyly of finger, Spina bifida, Abnormality of the dentition, Preaxial ... ORPHA:261318
Crane-Heise Syndrome
Finger syndactyly, Toe syndactyly, Hypoplastic scapulae, Aplastic clavicle, Talipes equinovarus, ... ORPHA:1512
Prune Belly Syndrome With Pulmonic Stenosis, Mental Retardation, And Deafness
Pulmonic stenosis OMIM:264140
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib
Osteopenia, Thyroiditis, Carious teeth, Osteoporosis, Oral ulcer, Gout, Increased susceptibility ... ORPHA:79259
Costello Syndrome
Ventricular septal defect, Abnormal dental enamel morphology, Narrow palate, Mitral valve prolaps... ORPHA:3071
8Q21.11 Microdeletion Syndrome
Finger syndactyly, Exaggerated cupid's bow, Camptodactyly of finger, Abnormality of the dentition... ORPHA:284160
Developmental Delay, Language Impairment, And Ocular Abnormalities
Contracture of the proximal interphalangeal joint of the 5th finger, Inguinal hernia, Pulmonic st... OMIM:620141
Tyshchenko Syndrome
Ventricular septal defect, High, narrow palate, Narrow palate, Cleft palate, High palate, Pulmoni... OMIM:615102
Histidinuria-Renal Tubular Defect Syndrome
Ventriculomegaly, Short middle phalanx of finger, Rounded middle phalanx of finger ORPHA:2158
Mucopolysaccharidosis, Type X
Thickened aortic valve cusp, Spatulate ribs, Broad clavicles, Genu valgum, Hip dysplasia, Broad r... OMIM:619698
Stevenson-Carey Syndrome
Hip dysplasia, Camptodactyly, Atrial septal defect, Microphthalmia, Joint contracture of the hand OMIM:611961
Wrinkly Skin Syndrome
Osteopenia, Delayed eruption of teeth, Microretrognathia, Joint hypermobility, Carious teeth, Cry... OMIM:278250
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Microdeletion
Long toe, Overlapping toe, Single transverse palmar crease, Pectus excavatum, Large placenta, Pro... ORPHA:254528
Leukocyte Adhesion Deficiency Type Ii
Mandibular prognathia, Small earlobe, Severe periodontitis, Protruding tongue, Deep philtrum, Pre... ORPHA:99843
Hypophosphatemic Rickets, Autosomal Recessive, 2
Genu varum, Genu valgum, Pulmonic stenosis, Coxa valga OMIM:613312
Deafness-Hypogonadism Syndrome
Stapes ankylosis, Hypergonadotropic hypogonadism, Abnormality of the middle ear ossicles, Severe ... ORPHA:90646
Intellectual Developmental Disorder, Autosomal Dominant 51
Long toe, Dilation of Virchow-Robin spaces, Talipes equinovarus, Ventriculomegaly OMIM:617788
Autosomal Recessive Spastic Paraplegia Type 77
Bilateral cryptorchidism, Macrodontia of permanent maxillary central incisor, Retrognathia ORPHA:466722
Microcephalic Osteodysplastic Primordial Dwarfism Types I And Iii
Osteopenia, Abnormally ossified vertebrae, Posteriorly rotated ears, Osteomalacia, Micrognathia, ... ORPHA:2636
Schizophrenia 1
Syndactyly, Short proximal phalanx of the 4th toe OMIM:181510
Silver-Russell Syndrome 1
Syndactyly, Short distal phalanx of the 5th finger, Downturned corners of mouth, Clinodactyly of ... OMIM:180860
Duane Retraction Syndrome
Narrow internal auditory canal, Optic disc hypoplasia, Micrognathia, External ear malformation, S... ORPHA:233
Marfan Syndrome
Decreased muscle mass, Bicuspid aortic valve, Equinus calcaneus, Incisional hernia, Flexion contr... OMIM:154700
Non-Acquired Panhypopituitarism
Osteopenia, Ectopic posterior pituitary, Ectopic anterior pituitary gland, Hypopituitarism, Decre... ORPHA:90695
Frontotemporal Dementia
Amyotrophic lateral sclerosis OMIM:600274
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Severe Form
Craniosynostosis, Oral mucosal blisters, Smooth tongue, Enamel hypoplasia, Ventriculomegaly ORPHA:79396
Pili Torti-Onychodysplasia Syndrome
Cleft lip, Palmoplantar keratoderma, Cleft palate, Cutaneous syndactyly ORPHA:2890
Toriello-Carey Syndrome
Aganglionic megacolon, Patent ductus arteriosus, Cleft palate, Coarctation of aorta, Anteriorly p... ORPHA:3338
Neural Tube Defects, Susceptibility To
Spina bifida occulta, Hydrocephalus, Myelomeningocele, Anencephaly OMIM:182940
Mucopolysaccharidosis Type 6
Epiphyseal dysplasia, Abnormal heart valve morphology, Recurrent upper respiratory tract infectio... ORPHA:583
Smith-Kingsmore Syndrome
Ventriculomegaly, Rhizomelia, Short proximal phalanx of finger, Deep palmar crease, Umbilical her... OMIM:616638
Mend Syndrome
Broad hallux, Overlapping toe, Long fingers, Hydrocephalus, Cryptorchidism, Spotty hypopigmentati... ORPHA:401973
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome
Low-set, posteriorly rotated ears, Thin upper lip vermilion, Mixed hearing impairment, Decreased ... ORPHA:444077
Ichthyosis, Congenital, Autosomal Recessive 11
Conical primary incisor OMIM:602400
Congenital Lipomatous Overgrowth, Vascular Malformations, And Epidermal Nevi
Tethered cord, Sandal gap, Macrodactyly, Spinal dysraphism OMIM:612918
Mowat-Wilson Syndrome
Delayed eruption of teeth, Aganglionic megacolon, Uplifted earlobe, Supernumerary nipple, Pyloric... OMIM:235730
Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Dominant
Sensorineural hearing impairment, Elbow flexion contracture, Furrowed tongue, Knee flexion contra... OMIM:148210
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome
Limited elbow movement, Narrow greater sciatic notch, Short phalanx of finger, Broad metacarpals,... ORPHA:508533
Specc1L-Related Hypertelorism Syndrome
Cryptorchidism, Orofacial cleft, Thin vermilion border, Everted lower lip vermilion, Low-set ears... ORPHA:1519
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Hypermethylation
Ventricular septal defect, Large placenta, Abnormal heart morphology, Coat hanger sign of ribs, U... ORPHA:254534
Marfan Syndrome
Skeletal muscle atrophy, Mitral valve calcification, Inguinal hernia, Spontaneous pneumothorax, A... ORPHA:558
Xq12-Q13.3 Duplication Syndrome
Pectus excavatum, Recurrent upper respiratory tract infections, 2-3 toe syndactyly, Cutaneous fin... ORPHA:314389
Choanal Atresia
Tracheomalacia, Recurrent respiratory infections, Polydactyly ORPHA:137914
Arthrogryposis, Cleft Palate, Craniosynostosis, And Impaired Intellectual Development
Slender long bone, Thin ribs, Brachydactyly OMIM:618265
Arima Syndrome
Brainstem dysplasia, Postaxial hand polydactyly, Postaxial foot polydactyly, Hypoplasia of the br... OMIM:243910
Jacobsen Syndrome
Iris coloboma, Long hallux, Abnormality of the anus, Broad hallux phalanx, Finger syndactyly, Spi... ORPHA:2308
Okamoto Syndrome
Exaggerated median tongue furrow, Anal stenosis, Tented upper lip vermilion, Ventricular septal d... ORPHA:2729
Camurati-Engelmann Disease
Delayed eruption of teeth, Carious teeth, Craniofacial osteosclerosis, Limitation of joint mobili... ORPHA:1328
Global Developmental Delay-Osteopenia-Ectodermal Defect Syndrome
Osteopenia, Joint laxity, Micrognathia, Dental malocclusion, Hypoplastic sweat glands, Localized ... ORPHA:73223
Lymphedema-Distichiasis Syndrome
Ventricular septal defect, Predominantly lower limb lymphedema, Nonimmune hydrops fetalis, Cleft ... OMIM:153400
Atelis Syndrome 2
Single transverse palmar crease, Patent ductus arteriosus, Supravalvar pulmonary stenosis, High p... OMIM:620185
Camptodactyly-Joint Contractures-Facial Skeletal Defects Syndrome
Finger syndactyly, Camptodactyly of finger, Narrow palate, Abnormal hip bone morphology, Narrow m... ORPHA:1323
Craniofrontonasal Dysplasia-Poland Anomaly Syndrome
Short lingual frenulum, Supernumerary nipple, Craniosynostosis, Wide mouth, High palate ORPHA:1521
Short Stature, Optic Nerve Atrophy, And Pelger-Huet Anomaly
Syndactyly, Broad hallux, Single transverse palmar crease, Micromelia, Sandal gap, Thin vermilion... OMIM:614800
Microcephaly With Or Without Chorioretinopathy, Lymphedema, Or Impaired Intellectual Development
Microphthalmia, Lymphedema OMIM:152950
Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Anomalies
Tented upper lip vermilion, Rocker bottom foot, Single transverse palmar crease, Postaxial polyda... OMIM:617527
Deafness-Genital Anomalies-Metacarpal And Metatarsal Synostosis Syndrome
Finger syndactyly, Toe syndactyly, Short hallux, Abnormality of the dentition, Abnormal metacarpa... ORPHA:3224
Melkersson-Rosenthal Syndrome
Macroglossia, Cheilitis, Furrowed tongue ORPHA:2483
Chromosome 17P13.3, Telomeric, Duplication Syndrome
Contracture of the proximal interphalangeal joint of the 3rd finger, Short metacarpal, Brachydact... OMIM:612576
Lymphatic Malformation 7
Nonimmune hydrops fetalis, Edema, Lymphedema, Pericardial effusion, Facial edema, Increased nucha... OMIM:617300
Juvenile Sialidosis Type 2
Protruding tongue, Gingival overgrowth, Low-set ears, Umbilical hernia, Hearing impairment ORPHA:93399
Neurodevelopmental Disorder With Hypotonia, Language Delay, And Skeletal Defects With Or Without Seizures
Prolonged QT interval, Thin upper lip vermilion, Anal stenosis, Optic nerve hypoplasia, Narrow mo... OMIM:620029
Monosomy 13Q34
Postaxial hand polydactyly, Postaxial foot polydactyly, Hematochezia, Pulmonic stenosis, Common a... ORPHA:96168
Nicolaides-Baraitser Syndrome
Smooth philtrum, Thin upper lip vermilion, Short lingual frenulum, Posteriorly rotated ears, High... OMIM:601358
Dyrk1A-Related Intellectual Disability Syndrome
Hallux valgus, Toe syndactyly, Arachnodactyly, Ventricular septal defect, Multiple joint contract... ORPHA:464306
Coloboma, Osteopetrosis, Microphthalmia, Macrocephaly, Albinism, And Deafness
Clinodactyly of the 5th finger, Generalized hypopigmentation, Microphthalmia, Iris transilluminat... OMIM:617306
Microhydranencephaly
Hydranencephaly, Talipes equinovarus, Ventriculomegaly OMIM:605013
Hartnup Disease
Glossitis, Gingivitis, Malabsorption ORPHA:2116
Brittle Cornea Syndrome
Hallux valgus, Arachnodactyly, Corneal scarring, Mitral valve prolapse, Cleft palate, Hip dysplas... ORPHA:90354
Khan-Khan-Katsanis Syndrome
Patent ductus arteriosus after premature birth, Postaxial polydactyly, Corneal scarring, Buphthal... OMIM:618460
Charcot-Marie-Tooth Disease Type 1F
Absent brainstem auditory responses, Tongue atrophy, Optic nerve hypoplasia, Sensorineural hearin... ORPHA:101085
Neurodevelopmental Disorder With Cardiomyopathy, Spasticity, And Brain Abnormalities
Proximal placement of thumb, Secundum atrial septal defect, 2-3 toe syndactyly, Complete duplicat... OMIM:619121
Cleft Lip/Palate-Ectodermal Dysplasia Syndrome
Finger syndactyly, Toe syndactyly, Bilateral single transverse palmar creases, Abnormal dental mo... ORPHA:3253
Usher Syndrome Type 3
Abnormal cochlea morphology, Sensorineural hearing impairment, Vestibular hypofunction ORPHA:231183
Amyotrophic Lateral Sclerosis
Motor neuron atrophy, Amyotrophic lateral sclerosis, Xerostomia ORPHA:803
Cerebrooculofacioskeletal Syndrome 2
Microphthalmia, Camptodactyly of finger, Rocker bottom foot OMIM:610756
Galloway-Mowat Syndrome 1
Hypoplasia of the iris, Hypoplasia of the brainstem, Talipes equinovarus, Camptodactyly, Hand cle... OMIM:251300
Craniometadiaphyseal Dysplasia, Wormian Bone Type
Coxa valga, Short tubular bones of the hand, Abnormal diaphysis morphology, Overtubulated long bo... ORPHA:85184
Trichohepatoenteric Syndrome 1
Hepatomegaly, Villous atrophy, Ventricular septal defect, Avascular necrosis of the capital femor... OMIM:222470
Cole-Carpenter Syndrome 2
Pectus excavatum, Hydrocephalus, Narrow iliac wing, Thin ribs OMIM:616294
Cardiofaciocutaneous Syndrome 4
Optic nerve hypoplasia, Ventricular septal hypertrophy, Palmoplantar hyperkeratosis, Abnormal aor... OMIM:615280
Radio-Renal Syndrome
Micromelia, Hypoplasia of the radius, Abnormality of the elbow, Abnormal rib morphology, Chylotho... ORPHA:3015
Postaxial Acrofacial Dysostosis
Syndactyly, Hypoplasia of the ulna, Congenital hip dislocation, Conical tooth, Cleft upper lip, S... OMIM:263750
Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability
Microphthalmia ORPHA:1473
Bardet-Biedl Syndrome 6
Pigmentary retinopathy, Postaxial polydactyly, Syndactyly OMIM:605231
Visceral Neuropathy-Brain Anomalies-Facial Dysmorphism-Developmental Delay Syndrome
Finger syndactyly, Toe syndactyly, Intestinal pseudo-obstruction, Arachnodactyly, Short palm, Lon... ORPHA:73246
Encephalocraniocutaneous Lipomatosis
Linear hyperpigmentation, Ventricular septal defect, Cryptorchidism, Hydrocephalus, Hypoplasia of... OMIM:613001
Capillary Malformation Of The Lower Lip, Lymphatic Malformation Of Face And Neck, Asymmetry Of Face And Limbs, And Partial/Generalized Overgrowth
Varicose veins, Macrodactyly, Venous malformation OMIM:613089
Ring Chromosome 12 Syndrome
Syndactyly, Secundum atrial septal defect, High, narrow palate, Abnormal 5th finger morphology, S... ORPHA:1439
Rere-Related Neurodevelopmental Syndrome
Ventricular septal defect, Cryptorchidism, Abnormal heart morphology, Hip dysplasia, Microphthalmia ORPHA:494344
Takenouchi-Kosaki Syndrome
Inguinal hernia, Overlapping toe, Proximal placement of thumb, Tapered finger, Patent ductus arte... OMIM:616737
Arboleda-Tham Syndrome
Mandibular prognathia, Anteverted ears, Bilateral cryptorchidism, Downturned corners of mouth, Sh... OMIM:616268
Wiedemann-Rautenstrauch Syndrome
Micrognathia, Flexion contracture, Downturned corners of mouth, Hypoplasia of the thymus, Small e... OMIM:264090
Congenital Fibrinogen Deficiency
Clubbing of fingers, Left ventricular hypertrophy, Microphthalmia, Decreased testicular size, Rig... ORPHA:335
Neurodevelopmental Disorder With Coarse Facies And Mild Distal Skeletal Abnormalities
Syndactyly, Abnormality of the dentition, Broad palm, Wide mouth, Thick vermilion border, Clinoda... OMIM:618505
Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome
Delayed eruption of teeth, Gingival overgrowth, Hearing impairment ORPHA:508542
X-Linked Hypophosphatemia
Shortening of the talar neck, Bowing of the long bones, Bowing of the legs, Beaded ribs, Enlargem... ORPHA:89936
Shashi-Pena Syndrome
Short metacarpal, Dilation of Virchow-Robin spaces, Patent ductus arteriosus, Mild fetal ventricu... OMIM:617190
Developmental And Epileptic Encephalopathy 1
Microphthalmia OMIM:308350
Male Hypergonadotropic Hypogonadism-Intellectual Disability-Skeletal Anomalies Syndrome
Abnormal rib morphology, Abnormality of the humeroulnar joint ORPHA:2234
Combined Oxidative Phosphorylation Deficiency 25
Syndactyly, Intraventricular hemorrhage, Pectus carinatum, Aspiration pneumonia, Ventriculomegaly OMIM:616430
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes
Malabsorption, Xerostomia, Hamartomatous polyposis, Protein-losing enteropathy, Glossitis OMIM:175500
Chromosome 2P16.1-P15 Deletion Syndrome
Arachnodactyly, Optic nerve hypoplasia, Metatarsus adductus, Pectus excavatum, Calcaneovalgus def... OMIM:612513
Fanconi Anemia, Complementation Group S
Microphthalmia, Clinodactyly, Proximal placement of thumb OMIM:617883
Meester-Loeys Syndrome
Aortic dissection, Arachnodactyly, Mitral valve prolapse, Ascending tubular aorta aneurysm, Abnor... OMIM:300989
Ermine Phenotype
Hypopigmentation of hair, Toe syndactyly, Ocular albinism, Hypopigmented skin patches, Clinodacty... ORPHA:999
Mitochondrial Complex Iii Deficiency, Nuclear Type 7
Cryptorchidism, Postaxial polydactyly, Oligohydramnios OMIM:615824
Neurocardiofaciodigital Syndrome
Dilated fourth ventricle, Syndactyly, Patent ductus arteriosus, Lateral ventricle dilatation, Dou... OMIM:619869
Lymphangiectasia, Intestinal
Intestinal lymphangiectasia, Prominent floating ribs OMIM:152800
Erythroderma, Congenital, With Palmoplantar Keratoderma, Hypotrichosis, And Hyper-Ige
Recurrent respiratory infections, Eosinophilic infiltration of the esophagus, Malabsorption, Mult... OMIM:615508
Giant Cell Arteritis
Diabetes insipidus, Joint stiffness, Vertigo, Arthritis, Conductive hearing impairment, Glossitis... ORPHA:397
Mayer-Rokitansky-Küster-Hauser Syndrome Type 2
Abnormal rib morphology ORPHA:2578
Methylcobalamin Deficiency Type Cble
Syndactyly, Clinodactyly, Hypertension, Hydrocephalus ORPHA:2169
Oculocutaneous Albinism Type 4
Hypoplasia of the fovea, Abnormality of retinal pigmentation, Hypopigmentation of hair, Albinism,... ORPHA:79435
46,Xx Difference Of Sex Development-Skeletal Anomalies Syndrome
Abnormality of the ovary, Micrognathia, Hypoplasia of the premaxilla, Mandibular condyle hypoplasia ORPHA:2975
Pyruvate Dehydrogenase E3-Binding Protein Deficiency
Abnormal brainstem morphology ORPHA:255182
Houge-Janssens Syndrome 1
Hydrocephalus, Congenital hip dislocation, Ventriculomegaly OMIM:616355
Ectodermal Dysplasia-Skin Fragility Syndrome
Chapped lip, Abnormal dental morphology, Abnormality of the dentition, Carious teeth, Abnormal to... ORPHA:158668
Microcephaly, Short Stature, And Polymicrogyria With Or Without Seizures
Microphthalmia, Optic nerve hypoplasia, Thin ribs OMIM:614833
X-Linked Cerebral Adrenoleukodystrophy
Myelopathy, Abnormal spinal cord morphology, Abnormal brainstem white matter morphology ORPHA:139396
Triokinase And Fmn Cyclase Deficiency Syndrome
Microphthalmia, Dilated cardiomyopathy OMIM:618805
Diamond-Blackfan Anemia
Cleft soft palate, Micrognathia, Cleft lip, Microtia, High palate, Low-set ears, Adenocarcinoma o... ORPHA:124
Charcot-Marie-Tooth Disease Type 4B2
Buphthalmos, Difficulty in tongue movements, Tongue atrophy, Sensorineural hearing impairment ORPHA:99956
16P13.11 Microdeletion Syndrome
Atrial septal defect, Ventricular septal defect, Camptodactyly of finger, Pectus excavatum, Talip... ORPHA:261236
Spinal Arteriovenous Metameric Syndrome
Abnormal spinal cord morphology, Spinal arteriovenous malformation ORPHA:53721
Fanconi Anemia, Complementation Group E
Absent thumb, Absent radius, Short thumb, Cryptorchidism, Abnormal heart morphology, Microphthalm... OMIM:600901
Hemihyperplasia-Multiple Lipomatosis Syndrome
Lipoatrophy, Macrodactyly, Abnormal cerebral vascular morphology, 2-4 toe syndactyly, Multiple li... ORPHA:276280
Camptodactyly Syndrome, Guadalajara Type 3
Small hand, Abnormal rib morphology, Short foot, Spina bifida occulta, Thickened cortex of long b... ORPHA:488434
Coffin-Siris Syndrome 12
Joint laxity, Overfolding of the superior helices, Posteriorly rotated ears, Micrognathia, Celiac... OMIM:619325
Bilateral Perisylvian Polymicrogyria
Ectopic posterior pituitary, Micrognathia, Protruding tongue, Flexion contracture, Distal arthrog... ORPHA:98889
Pyknoachondrogenesis
Craniofacial hyperostosis, Abnormal intramembranous ossification, Poorly ossified vertebrae, Scle... ORPHA:3003
Marfanoid Habitus-Autosomal Recessive Intellectual Disability Syndrome
Small hypothenar eminence, Arachnodactyly, Thenar muscle atrophy, Pectus excavatum, Cardiomegaly,... ORPHA:2463
Bardet-Biedl Syndrome 20
Elevated hepatic transaminase, Postaxial polydactyly, Postaxial hand polydactyly, 2-3 toe syndact... OMIM:619471
Sclerosteosis 1
Syndactyly, Sclerotic scapulae, Broad clavicles, 2-3 finger syndactyly, Deviation of finger, Abno... OMIM:269500
Ane Syndrome
Hyperpigmented nevi, Motor neuron atrophy, Ulnar deviation of the hand, Hyperpigmentation of the ... ORPHA:157954
Congenital Primary Aphakia
Microphthalmia, Aplasia/Hypoplasia affecting the anterior segment of the eye, Congenital aphakia ORPHA:83461
Neurodevelopmental Disorder With Dysmorphic Facies And Cerebellar Hypoplasia
Molar tooth sign on MRI, Ventricular septal defect, Hypoplasia of the brainstem, Optic disc hypop... OMIM:619306
Sponastrime Dysplasia
Joint laxity, Mandibular prognathia, Obtuse angle of mandible, Precocious puberty, Hypothyroidism... ORPHA:93357
Frontofacionasal Dysplasia
Cranium bifidum occultum, Microphthalmia OMIM:229400
Larsen Syndrome
Finger syndactyly, Accessory carpal bones, Cleft palate, Abnormal epiphysis morphology, Broad dis... ORPHA:503
Autosomal Dominant Popliteal Pterygium Syndrome
Finger syndactyly, Thin upper lip vermilion, Toe syndactyly, Lip pit, Non-midline cleft lip, Spli... ORPHA:1300
Oculogastrointestinal Neurodevelopmental Syndrome
Bilateral microphthalmos, Bicuspid aortic valve, Unilateral microphthalmos OMIM:619318
Noonan Syndrome 14
Scapular winging, High, narrow palate, Mitral valve prolapse, Hypertrophic cardiomyopathy, Deep p... OMIM:619745
Denys-Drash Syndrome
Posterolateral diaphragmatic hernia, Congenital diaphragmatic hernia OMIM:194080
Familial Exudative Vitreoretinopathy
Microphthalmia, Macular edema, Lymphedema ORPHA:891
Baraitser-Winter Syndrome 2
Microphthalmia OMIM:614583
Alg12-Cdg
Recurrent respiratory infections, Ulnar deviation of the wrist, Sandal gap, Proximal placement of... ORPHA:79324
Mowat-Wilson Syndrome Due To Monosomy 2Q22
Mandibular prognathia, Dental crowding, Uplifted earlobe, Cleft hard palate, Flexion contracture,... ORPHA:261537
Acrodermatitis Enteropathica
Malabsorption, Cheilitis, Abnormality of the tongue, Furrowed tongue, Glossitis ORPHA:37
Opticocochleodentate Degeneration
Cochlear degeneration, Hearing impairment OMIM:258700
Angelman Syndrome
Mandibular prognathia, Precocious puberty in females, Protruding tongue, Wide mouth, Widely space... ORPHA:72
Fanconi Anemia, Complementation Group A
Absent thumb, Absent radius, Short thumb, Cryptorchidism, Abnormal heart morphology, Abnormality ... OMIM:227650
Leopard Syndrome 1
Scapular winging, Limited elbow movement, Complete atrioventricular canal defect, Cleft palate, M... OMIM:151100
Noonan Syndrome 5
Atrial septal defect, Cubitus valgus, Hypertrophic cardiomyopathy, Pulmonic stenosis OMIM:611553
Methylmalonic Acidemia With Homocystinuria Type Cblf
Stomatitis, Glossitis, Cleft palate ORPHA:79284
Schinzel-Giedion Midface Retraction Syndrome
Long clavicles, Increased density of long bones, Single transverse palmar crease, Wide distal fem... OMIM:269150
Mucopolysaccharidosis, Type Iiia
Umbilical hernia, Thickened ribs, Recurrent upper respiratory tract infections, Asymmetric septal... OMIM:252900
Holoprosencephaly-Radial Heart Renal Anomalies Syndrome
Aplasia/Hypoplasia of the thumb, Hypoplasia of the ulna, Overriding aorta, Abnormality of the hum... ORPHA:3186
Encephalomyopathy, Mitochondrial, Due To Voltage-Dependent Anion Channel Deficiency
Syndactyly, Umbilical hernia, High palate OMIM:614520
Polymicrogyria Due To Tubb2B Mutation
Hypoplasia of the pons, Abnormal brainstem morphology ORPHA:300573
2P15P16.1 Microdeletion Syndrome
Recurrent respiratory infections, Sandal gap, Camptodactyly of finger, Optic nerve hypoplasia, Ta... ORPHA:261349
47,Xyy Syndrome
Cryptorchidism, Hydrocephalus, Abnormal brainstem morphology, Oligozoospermia, Finger clinodactyl... ORPHA:8
Steinfeld Syndrome
Hypoplasia of the ulna, Aplasia/Hypoplasia of the thumb, Hypoplasia of the radius, Abnormal heart... OMIM:184705
Cortical Dysplasia, Complex, With Other Brain Malformations 11
Hydrocephalus, Ventriculomegaly, Colpocephaly, Brachydactyly OMIM:620156
Cochleosaccular Degeneration-Cataract Syndrome
Progressive sensorineural hearing impairment, Cochlear degeneration ORPHA:3233
Osteogenesis Imperfecta, Type Xviii
Thin ribs, Bowing of the long bones, Umbilical hernia, Femoral bowing OMIM:617952
Grange Syndrome
Syndactyly, Bicuspid aortic valve, Renovascular hypertension, Finger clinodactyly, Coronary arter... OMIM:602531
Spondylocostal Dysostosis 1, Autosomal Recessive
Recurrent respiratory infections, Rib fusion OMIM:277300
Hydrocephalus, Congenital, 4
Communicating hydrocephalus, Ventriculomegaly OMIM:618667
Glucagonoma
Neoplasm of the pancreas, Intestinal obstruction, Diabetes mellitus, Elevated circulating growth ... ORPHA:97280
Spinocerebellar Ataxia, Autosomal Recessive 3
Cochlear degeneration, Hearing impairment OMIM:271250
Mowat-Wilson Syndrome
Mandibular prognathia, Dental crowding, Uplifted earlobe, Cleft hard palate, Flexion contracture,... ORPHA:2152
Milroy Disease
Varicose veins, Abnormal venous morphology, Cellulitis ORPHA:79452
Galloway-Mowat Syndrome 3
Arachnodactyly, Edema, Hip dislocation, Camptodactyly, Microphthalmia, Oligohydramnios OMIM:617729
Omodysplasia 1
Short humerus, Rhizomelia, Increased fibular diameter, Ventricular septal defect, Pulmonary arter... OMIM:258315
Peters Plus Syndrome
Intestinal fistula, Inguinal hernia, Toe syndactyly, Rhizomelia, Micromelia, Patent ductus arteri... ORPHA:709
Arrhinia-Choanal Atresia-Microphthalmia Syndrome
Microphthalmia ORPHA:1135
Spinocerebellar Ataxia 42, Early-Onset, Severe, With Neurodevelopmental Deficits
Syndactyly, Clinodactyly OMIM:618087
Prader-Willi Syndrome
Syndactyly, Thin upper lip vermilion, Polyhydramnios, Carious teeth, Acromicria, Small hand, Narr... OMIM:176270
Osteogenesis Imperfecta, Type Iii
Slender long bone, Thin ribs, Protrusio acetabuli, Tibial bowing OMIM:259420
Global Developmental Delay-Alopecia-Macrocephaly-Facial Dysmorphism-Structural Brain Anomalies Syndrome
Dilation of Virchow-Robin spaces, Tapered toe, Tapered finger, Rib fusion, Lateral ventricle dila... ORPHA:544488
Fanconi Anemia, Complementation Group W
Abnormal radial ray morphology, Hypoplasia of the radius, Ventriculomegaly, Absent thumb OMIM:617784
Mullerian Duct Aplasia, Unilateral Renal Agenesis, And Cervicothoracic Somite Anomalies
Sprengel anomaly, Abnormal rib morphology OMIM:601076
Acute Disseminated Encephalomyelitis
Abnormal brainstem MRI signal intensity, Abnormal spinal cord morphology, Cerebral edema, Myelitis ORPHA:83597
Multiple Endocrine Neoplasia Type 2
Joint laxity, Paraganglioma of head and neck, Aganglionic megacolon, Thyroid C cell hyperplasia, ... ORPHA:653
Neurocutaneous Melanocytosis
Intracranial hemorrhage, Ventriculomegaly, Meningocele, Dandy-Walker malformation ORPHA:2481
Mosaic Variegated Aneuploidy Syndrome
Atrial septal defect, Polyhydramnios, Increased nuchal translucency, Multiple cafe-au-lait spots,... ORPHA:1052
Alopecia-Contractures-Dwarfism-Intellectual Disability Syndrome
Finger syndactyly, Abnormal dental enamel morphology, Abnormality of the elbow, Hip dislocation, ... ORPHA:1005
Cutis Laxa, Autosomal Dominant 1
Inguinal hernia, Ventricular septal defect, Bronchiectasis, Uterine prolapse, Emphysema, Peripher... OMIM:123700
Pitt-Hopkins Syndrome
Short fourth metatarsal, Short fifth metatarsal, Overlapping toe, Single transverse palmar crease... OMIM:610954
Bone Fragility With Contractures, Arterial Rupture, And Deafness
Ventriculomegaly, Contracture of the proximal interphalangeal joint of the 2nd finger, Decreased ... OMIM:612394
Mucopolysaccharidosis Type 3
Abnormal clavicle morphology, Recurrent sinopulmonary infections, Cardiomegaly, Avascular necrosi... ORPHA:581
Hydrocephalus, Congenital, 2, With Or Without Brain Or Eye Anomalies
Communicating hydrocephalus, Hydrocephalus, Colpocephaly, Macular hypoplasia, Atrial septal defec... OMIM:615219
Lacrimoauriculodentodigital Syndrome
Xerostomia, Orofacial cleft, Microdontia, Abnormal salivary gland morphology, Abnormal digit morp... ORPHA:2363
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome
Ventricular septal defect, Abnormally large globe, Pancreatic lymphangiectasis, Postaxial hand po... ORPHA:1655
Fbln1-Related Developmental Delay-Central Nervous System Anomaly-Syndactyly Syndrome
Syndactyly, Congenital bilateral hip dislocation ORPHA:404451
Amyotrophic Lateral Sclerosis 8
Amyotrophic lateral sclerosis OMIM:608627
Neurodevelopmental Disorder With Impaired Language And Ataxia And With Or Without Seizures
Hearing impairment, Ventriculomegaly, Protruding tongue OMIM:619580
Cardiomyopathy, Familial Hypertrophic, 27
Cardiomegaly, Concentric hypertrophic cardiomyopathy, Ventricular septal hypertrophy, Cardiomyocy... OMIM:618052
Chromosome 1P36 Deletion Syndrome, Distal
Orofacial cleft, High palate, Thickened helices, Conductive hearing impairment, Agenesis of corpu... OMIM:607872
Congenital Disorder Of Glycosylation, Type Iq
Abnormality of skin pigmentation, Microphthalmia OMIM:612379
Encephalocraniocutaneous Lipomatosis
Lipodystrophy, Coarctation of aorta, Multiple lipomas, Abnormal aortic morphology, Tricuspid valv... ORPHA:2396
Ohdo Syndrome, X-Linked
Ulnar deviation of the hand, Overlapping toe, Short thumb, Cryptorchidism, Hip dysplasia, Microph... OMIM:300895
Neurodevelopmental Disorder With Hypotonia, Dysmorphic Facies, And Skeletal Anomalies, With Or Without Seizures
Broad hallux, Tapered finger, Pectus excavatum, Short thumb, Hip dysplasia, Bilateral talipes equ... OMIM:620224
Distal Deletion 6P
Atrial septal defect, Short foot, Hypoplasia of the iris, Abnormal epiphysis morphology, Talipes ... ORPHA:96125
Cowden Syndrome
Follicular thyroid carcinoma, Enlarged polycystic ovaries, Abnormality of the thyroid gland, Goit... ORPHA:201
Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy
Abnormality of the temporomandibular joint, Protruding tongue, Flexion contracture, Macroglossia,... ORPHA:258
Legius Syndrome
Non-small cell lung carcinoma, Desmoid tumors, Mitral valve prolapse, Diaphyseal dysplasia, Multi... ORPHA:137605
Mucopolysaccharidosis, Type Iiib
Asymmetric septal hypertrophy, Thickened ribs, Recurrent upper respiratory tract infections, Card... OMIM:252920
Developmental Delay With Variable Intellectual Disability And Dysmorphic Facies
Single transverse palmar crease, 2-3 toe syndactyly, Joint contracture of the 5th finger, Promine... OMIM:620098
Mosaic Trisomy 20
Ventricular septal defect, Down-sloping shoulders, Cryptorchidism, Abnormal spinal cord morpholog... ORPHA:1724
Warburg Micro Syndrome 2
Overlapping toe, Cryptorchidism, Microphthalmia, Clinodactyly of the 4th toe, Clinodactyly of the... OMIM:614225
Anemia, Congenital Dyserythropoietic, Type Ib
Syndactyly OMIM:615631
Combined Immunodeficiency With Facio-Oculo-Skeletal Anomalies
Optic nerve hypoplasia, Arteria lusoria, Clinodactyly of the 2nd finger, Cone-shaped epiphysis, S... ORPHA:221139
Faciodigitogenital Syndrome, Autosomal Recessive
Syndactyly, Down-sloping shoulders, Metatarsus adductus, Deep philtrum, Dental malocclusion, Broa... OMIM:227330
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly
Ventricular septal defect, Thyroid lymphangiectasia, Pancreatic lymphangiectasis, Postaxial hand ... OMIM:235255
Wolf-Hirschhorn Syndrome
Single transverse palmar crease, Atrial septal defect, Pseudoepiphyses of the metacarpals, Short ... OMIM:194190
Ileal Neuroendocrine Tumor
Elevated hepatic transaminase, Intestinal fistula, Functional intestinal obstruction, Tricuspid s... ORPHA:100078
Acquired Von Willebrand Syndrome
Gastrointestinal hemorrhage, Gastrointestinal angiodysplasia, Intracranial hemorrhage, Melena, Pu... ORPHA:99147
Vertebral Anomalies And Variable Endocrine And T-Cell Dysfunction
Patent ductus arteriosus, Narrow palate, Cleft palate, Contracture of the proximal interphalangea... OMIM:618223
Syndactyly-Telecanthus-Anogenital And Renal Malformations Syndrome
Toe syndactyly, Mitral atresia, Pulmonary artery stenosis, Hypoplasia of the radius, Abnormal car... ORPHA:140952
Kbg Syndrome
Syndactyly, Tented upper lip vermilion, Macrodontia, Single transverse palmar crease, Cutaneous s... OMIM:148050
Intellectual Developmental Disorder, Autosomal Dominant 45
Arachnodactyly, Pulmonic stenosis OMIM:617600
Hereditary Folate Malabsorption
Glossitis, Cheilitis ORPHA:90045
Generalized Pustular Psoriasis
Arthritis, Geographic tongue, Cheilitis ORPHA:247353
Yunis-Varon Syndrome
Congenital hip dislocation, Single transverse palmar crease, Polyhydramnios, Short metatarsal, Hy... OMIM:216340
Ectodermal Dysplasia-Intellectual Disability-Central Nervous System Malformation Syndrome
Sandal gap, Pectus excavatum, Hydrocephalus, Abnormal fibula morphology, Ventriculomegaly ORPHA:1812
Mosaic Trisomy 8
Camptodactyly of finger, Patellar aplasia, Abnormal rib morphology, Narrow pelvis bone, Deep palm... ORPHA:96061
Vascular Ehlers-Danlos Syndrome
High, narrow palate, Osteoarthritis, Abnormality of the gingiva, Gingivitis, Protruding ear, Peri... ORPHA:286
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation
Mandibular prognathia, Dental crowding, Uplifted earlobe, Cleft hard palate, Flexion contracture,... ORPHA:261552
Colobomatous Microphthalmia-Obesity-Hypogenitalism-Intellectual Disability Syndrome
Microphthalmia, Cryptorchidism ORPHA:363741
Osteopetrosis, Autosomal Recessive 7
Multiple rib fractures, Femur fracture, Hydrocephalus, Recurrent pneumonia, Lateral ventricle dil... OMIM:612301
Ectodermal Dysplasia And Immunodeficiency 1
Conical incisor, Aplasia of the eccrine sweat glands OMIM:300291
Pitt-Hopkins-Like Syndrome 2
Wide mouth, Protruding tongue OMIM:614325
16Q24.3 Microdeletion Syndrome
Ventricular septal defect, Optic nerve hypoplasia, Proximal placement of thumb, Dilated cardiomyo... ORPHA:261250
Tbck-Related Intellectual Disability Syndrome
Broad toe, Skeletal muscle atrophy, Ventricular septal defect, Diastasis recti, High, narrow pala... ORPHA:488632
Costello Syndrome
Hyperextensibility of the finger joints, Ventricular septal defect, Bronchomalacia, Limited elbow... OMIM:218040
3Q29 Microdeletion Syndrome
Tapered finger, Abnormality of skin pigmentation, Subvalvular aortic stenosis, Clinodactyly of th... ORPHA:65286
Tooth Agenesis, Selective, 4
Peg-shaped maxillary lateral incisors, Tooth agenesis, Abnormality of primary teeth, Agenesis of ... OMIM:150400
Familial Acute Necrotizing Encephalopathy
Abnormal brainstem MRI signal intensity, Abnormal brainstem morphology, Cerebral edema ORPHA:88619
Jacobsen Syndrome
Atrial septal defect, Ventricular septal defect, Cryptorchidism, Hydrocephalus, Macular hypoplasi... OMIM:147791
Joubert Syndrome 5
Occipital encephalocele OMIM:610188
Fanconi Anemia, Complementation Group C
Ventricular septal defect, Absent thumb, Absent radius, Short thumb, Cryptorchidism, Microphthalm... OMIM:227645
Eec Syndrome
Aplasia/Hypoplasia of the thumb, Finger syndactyly, Toe syndactyly, Abnormal dental enamel morpho... ORPHA:1896
Intellectual Disability-Hypotonic Facies Syndrome, X-Linked, 1
Tented upper lip vermilion, Micrognathia, Widely-spaced maxillary central incisors, High palate, ... OMIM:309580
Intellectual Developmental Disorder, Autosomal Dominant 54
Dental crowding, Widely spaced teeth, Delayed eruption of primary teeth OMIM:617799
Aprosencephaly And Cerebellar Dysgenesis
Aprosencephaly, Bifid uvula, Craniosynostosis, Micrognathia OMIM:601374
Culler-Jones Syndrome
Cleft palate, Postaxial polydactyly, Cleft upper lip OMIM:615849
Osteogenesis Imperfecta, Type Vii
Multiple rib fractures, Crumpled long bones, Rhizomelia, Protrusio acetabuli, Femoral retroversio... OMIM:610682
Plaa-Associated Neurodevelopmental Disorder
Hyperextensibility of the finger joints, Single transverse palmar crease, Rocker bottom foot, Lon... ORPHA:521426
Fraser Syndrome 3
Nonimmune hydrops fetalis, Short toe, Hydrocephalus, Cutaneous syndactyly, Ascites, Oligohydramnios OMIM:617667
Proliferative Vasculopathy And Hydranencephaly-Hydrocephaly Syndrome
Hydranencephaly, Hydrocephalus, Ventriculomegaly, Dandy-Walker malformation OMIM:225790
Neurodevelopmental Disorder With Cataracts, Poor Growth, And Dysmorphic Facies
Microphthalmia, Overlapping toe, Abnormal heart morphology OMIM:618571
Coffin-Lowry Syndrome
Hyperextensibility of the finger joints, Short metacarpal, Bifid sternum, Single transverse palma... OMIM:303600
Cockayne Syndrome
High-frequency sensorineural hearing impairment, Diabetes mellitus, Abnormal dental morphology, D... ORPHA:191
Non-Progressive Cerebellar Ataxia With Intellectual Disability
Short ear, Narrow mouth, Thick lower lip vermilion, Mesiodens, Long philtrum ORPHA:314647
Warburg Micro Syndrome 3
Clinodactyly of the 5th finger, Microphthalmia, Decreased testicular size OMIM:614222
Ataxia-Intellectual Disability-Oculomotor Apraxia-Cerebellar Cysts Syndrome
Elongated superior cerebellar peduncle, Abnormal brainstem morphology ORPHA:370022
Desmosterolosis
Rhizomelia, Patent ductus arteriosus, Hydrocephalus, Bilateral talipes equinovarus, Total anomalo... OMIM:602398
Trichorhinophalangeal Syndrome, Type Ii
Osteopenia, Chronic gastritis, Thin upper lip vermilion, Mandibular prognathia, Hearing impairmen... OMIM:150230
Gangliocytoma
Syringomyelia, Abnormal brainstem morphology, Spinal cord tumor ORPHA:251937
Neurodevelopmental Disorder With Hypotonia, Craniofacial Abnormalities, And Seizures
Bicuspid aortic valve, Tapered finger, Talipes equinovarus, Short palm, Umbilical hernia, Aortic ... OMIM:614501
Hyperphosphatasia With Impaired Intellectual Development Syndrome 2
Ventriculomegaly, Broad hallux, Shortening of all distal phalanges of the fingers, Atrial septal ... OMIM:614749
Sanjad-Sakati Syndrome
Recurrent respiratory infections, Small hand, Short foot, Aplasia/Hypoplasia affecting the eye, V... ORPHA:2323
Noonan Syndrome 4
Ventricular septal defect, Pulmonic stenosis, Atrial septal defect, Cubitus valgus, Hypertrophic ... OMIM:610733
Noonan Syndrome 3
Ventricular septal defect, Patent ductus arteriosus, Mitral valve prolapse, High palate, Pulmonic... OMIM:609942
Monosomy 22
Finger syndactyly, Single transverse palmar crease, Clubbing, Joint swelling, Thin vermilion bord... ORPHA:96123
Scalp-Ear-Nipple Syndrome
Finger syndactyly, Palpebral edema, Cardiac myxoma, Congestive heart failure, 3-4 finger cutaneou... OMIM:181270
Spinocerebellar Ataxia Type 1
Abnormal brainstem morphology, Atrophy/Degeneration affecting the brainstem ORPHA:98755
1Q44 Microdeletion Syndrome
Hydrocephalus, Abnormal cardiac septum morphology, Optic disc hypoplasia, Ventriculomegaly ORPHA:238769
Chromosome 13Q14 Deletion Syndrome
Overlapping toe, Single transverse palmar crease, Ventricular septal defect, Cryptorchidism, Hip ... OMIM:613884
Townes-Brocks Syndrome
Broad hallux phalanx, Atrial septal defect, Toe syndactyly, Abnormal pulmonary valve morphology, ... ORPHA:857
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
Monosomy 13Q14
Aplasia/Hypoplasia of the thumb, Finger syndactyly, Holoprosencephaly, Clinodactyly of the 5th fi... ORPHA:1587
Glycine Encephalopathy With Normal Serum Glycine
Hip contracture, Overlapping toe, Hip dislocation, Elbow flexion contracture, Talipes equinovarus... OMIM:617301
Lacrimoauriculodentodigital Syndrome 1
Lacrimal gland aplasia, Mixed hearing impairment, Absence of Stensen duct, Delayed eruption of pr... OMIM:149730
Semilobar Holoprosencephaly
Median cleft lip, Hydrocephalus, Hip dislocation, Cleft palate, Abnormal heart morphology, Abnorm... ORPHA:220386
Alobar Holoprosencephaly
Median cleft lip, Hydrocephalus, Hip dislocation, Cleft palate, Abnormal heart morphology, Abnorm... ORPHA:93925
Midline Interhemispheric Variant Of Holoprosencephaly
Median cleft lip, Hydrocephalus, Hip dislocation, Cleft palate, Abnormal heart morphology, Abnorm... ORPHA:93926
Lobar Holoprosencephaly
Median cleft lip, Hydrocephalus, Hip dislocation, Cleft palate, Abnormal heart morphology, Abnorm... ORPHA:93924
Cerebrofaciothoracic Dysplasia
Rib fusion, Narrow chest, Bifid ribs, Sprengel anomaly, Ventriculomegaly ORPHA:1394
X-Linked Dominant Chondrodysplasia Punctata
Neonatal epiphyseal stippling, Hip dislocation, Upper limb asymmetry, Epiphyseal stippling, Talip... ORPHA:35173
Deafness, Autosomal Dominant 9
Cochlear degeneration, Vertigo, Tinnitus, Postlingual sensorineural hearing impairment OMIM:601369
Cutis Marmorata Telangiectatica Congenita
Finger syndactyly, Toe syndactyly, Telangiectasia of the skin, Patent ductus arteriosus, Orofacia... ORPHA:1556
Occipital Horn Syndrome
Short humerus, Pelvic bone exostoses, Coxa valga, Broad clavicles, Capitate-hamate fusion, Pectus... OMIM:304150
Osteogenesis Imperfecta, Type Viii
Barrel-shaped chest, Short metacarpal, Radial bowing, Femoral retroversion, Tibial bowing, Femora... OMIM:610915
Tubulinopathy-Associated Dysgyria
Hypoplasia of the pons, Abnormal brainstem morphology ORPHA:467166
Neurodegeneration With Brain Iron Accumulation 4
Abnormal lower motor neuron morphology, Scapular winging OMIM:614298
Multiple Sulfatase Deficiency
Hydrocephalus, Broad hallux, Broad thumb, Ventriculomegaly OMIM:272200
Progressive Non-Fluent Aphasia
Abnormal lower motor neuron morphology ORPHA:100070
Short Stature With Microcephaly And Distinctive Facies
Syndactyly, Short digit, Proximal placement of thumb, Talipes equinovarus, Short distal phalanx o... OMIM:615789
X-Linked Lissencephaly With Abnormal Genitalia
Patent ductus arteriosus, Ventricular septal defect, Ventriculomegaly ORPHA:452
Neurodevelopmental Disorder With Dysmorphic Features, Spasticity, And Brain Abnormalities
Skeletal muscle atrophy, Secundum atrial septal defect, Pulmonic stenosis, Enamel hypoplasia, Bif... OMIM:615802
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome
Peripheral pulmonary artery stenosis, Proportionate shortening of all digits, Tapered finger, Pat... ORPHA:280633
Autosomal Recessive Faciodigitogenital Syndrome
Finger syndactyly, Down-sloping shoulders, Open bite, Deep philtrum, Short foot, Wide mouth, High... ORPHA:1974
Xq21 Microdeletion Syndrome
Stapes ankylosis, Decreased response to growth hormone stimulation test, Dilatated internal audit... ORPHA:1435
Wilson Disease
Ascites, Pedal edema, Edema, Face of the giant panda sign OMIM:277900
Kaufman Oculocerebrofacial Syndrome
Atrial septal defect, Congenital hip dislocation, Long palm, Single transverse palmar crease, Ven... OMIM:244450
Noonan Syndrome 1
Ventricular septal defect, High, narrow palate, Patent ductus arteriosus, Cleft palate, Coarctati... OMIM:163950
Anterior Segment Dysgenesis 5
Hypoplasia of the fovea, Hypoplasia of the iris, Rieger anomaly, Microphthalmia OMIM:604229
Vitreoretinochoroidopathy
Microphthalmia, Pigmentary retinopathy OMIM:193220
Idiopathic Camptocormia
Abnormal pons morphology, Amyotrophic lateral sclerosis, Syringomyelia, Myelitis ORPHA:1320
Macrothrombocytopenia-Lymphedema-Developmental Delay-Facial Dysmorphism-Camptodactyly Syndrome
Ventriculomegaly, Overlapping toe, Proximal placement of thumb, Tapered finger, Patent ductus art... ORPHA:487796
X-Linked Dystonia-Parkinsonism
Protruding tongue ORPHA:53351
Mucoepithelial Dysplasia, Hereditary
Erythematous oral mucosa, Hearing impairment, Furrowed tongue OMIM:158310
Noonan Syndrome 6
Hypertrophic cardiomyopathy, Pulmonic stenosis OMIM:613224
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 9
Buphthalmos, Microphthalmia, Hydrocephalus, Ventriculomegaly OMIM:616538
Carney Complex
Neoplasm of the stomach, Thyroid carcinoma, Papillary thyroid carcinoma, Leydig cell neoplasia, O... ORPHA:1359
Microphthalmia, Syndromic 11
Microphthalmia OMIM:614402
Klippel-Feil Syndrome 1, Autosomal Dominant
Sprengel anomaly, Abnormal rib morphology OMIM:118100
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 2
Amyotrophic lateral sclerosis OMIM:615911
Agel Amyloidosis
Tongue atrophy, Xerostomia, Hearing impairment ORPHA:85448
Blepharophimosis-Intellectual Disability Syndrome, Ohdo Type
Atrial septal defect, Microphthalmia, Abnormal palmar dermatoglyphics, Cryptorchidism ORPHA:2728
Charcot-Marie-Tooth Disease Type 4C
Difficulty in tongue movements, Tongue atrophy, Tongue fasciculations, Sensorineural hearing impa... ORPHA:99949
Waardenburg Syndrome, Type 2E
White eyelashes, White eyebrow, Blue irides, Hypopigmented skin patches, Ocular albinism, Prematu... OMIM:611584
Methylmalonic Acidemia With Homocystinuria, Type Cblc
Hydrocephalus, Low-set ears, Stomatitis, Glossitis, Smooth philtrum ORPHA:79282
Microcephaly, Developmental Delay, And Brittle Hair Syndrome
Submucous cleft hard palate, Flexion contracture, Type II diabetes mellitus, Delayed puberty OMIM:618891
Bardet-Biedl Syndrome
Finger syndactyly, Postaxial hand polydactyly, Hypertension ORPHA:110
Neurodevelopmental Disorder With Poor Language And Loss Of Hand Skills
Short foot, Small hand, Ventriculomegaly OMIM:617903
Bardet-Biedl Syndrome 12
Postaxial foot polydactyly, Postaxial hand polydactyly, Polydactyly OMIM:615989
Warburg Micro Syndrome 4
Microphthalmia, Decreased testicular size, Cryptorchidism OMIM:615663
Imerslund-Gräsbeck Syndrome
Glossitis, Angular cheilitis ORPHA:35858
Maternal Uniparental Disomy Of Chromosome 6
Slender long bone, Ventriculomegaly ORPHA:96181
Mosaic Variegated Aneuploidy Syndrome 1
Hydrocephalus, Short sternum, Pulmonic stenosis, Atrial septal defect, Dandy-Walker malformation,... OMIM:257300
Osteogenesis Imperfecta, Type Xv
Thin ribs OMIM:615220
Tukel Syndrome
Carpal synostosis, Syndactyly, Carpal bone aplasia, Postaxial oligodactyly OMIM:609428
Choroidal Atrophy-Alopecia Syndrome
Finger syndactyly ORPHA:1433
Mohr-Tranebjaerg Syndrome
Absent brainstem auditory responses, Abnormal vestibular function, Sensorineural hearing impairme... ORPHA:52368
Oculoauricular Syndrome
Phthisis bulbi, Macular hypoplasia, Microphakia, Microphthalmia, Spina bifida occulta OMIM:612109
Micro Syndrome
Microphthalmia, Abnormality of retinal pigmentation, Cryptorchidism ORPHA:2510
Idiopathic Uveal Effusion Syndrome
Microphthalmia ORPHA:209956
Congenital Disorder Of Deglycosylation 2
Ulnar deviation of the hand, Sandal gap, Bilateral talipes equinovarus, Broad thumb, Ventriculome... OMIM:619775
Baller-Gerold Syndrome
Limited elbow movement, Patellar hypoplasia, Spina bifida occulta, Hypoplasia of the ulna, Radial... OMIM:218600
Alpha-Mannosidosis, Infantile Form
Communicating hydrocephalus, Thickened ribs, Pneumonia, Pectus excavatum, Genu valgum, Pectus car... ORPHA:309282
Koolen-De Vries Syndrome Due To A Point Mutation
Hand muscle atrophy, Recurrent respiratory infections, Anomaly of lower limb diaphyses, Atrial se... ORPHA:363965
17Q21.31 Microdeletion Syndrome
Hand muscle atrophy, Recurrent respiratory infections, Anomaly of lower limb diaphyses, Atrial se... ORPHA:363958
Mucopolysaccharidosis, Type Iiid
Epiphyseal dysplasia, Thoracic scoliosis, Thickened ribs, Recurrent upper respiratory tract infec... OMIM:252940
Kapur-Toriello Syndrome
Microphthalmia, Tetralogy of Fallot, Ventricular septal defect ORPHA:2328
Chromosome 4Q32.1-Q32.2 Triplication Syndrome
Tapered finger, Intraventricular hemorrhage, Hydrocephalus, Talipes equinovarus, Ventriculomegaly OMIM:613603
Mucopolysaccharidosis, Type Iiic
Thickened ribs, Recurrent upper respiratory tract infections, Asymmetric septal hypertrophy OMIM:252930
Intellectual Developmental Disorder, X-Linked, Syndromic, With Pigmentary Mosaicism And Coarse Facies
Tapered finger, Hip dislocation, Genu valgum, Hip dysplasia, Umbilical hernia, Talipes equinovaru... OMIM:301066
Facial Dysmorphism-Anorexia-Cachexia-Eye And Skin Anomalies Syndrome
Abnormal mitral valve morphology, Finger syndactyly, Short hard palate, Genu varum ORPHA:1969
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2Z
Tongue atrophy, Joint contracture of the hand, Congenital finger flexion contractures, Flexion co... ORPHA:466768
Metaphyseal Chondromatosis With D-2-Hydroxyglutaric Aciduria
Metaphyseal chondromatosis of tibia, Metaphyseal dysplasia, Ventriculomegaly, Irregular iliac cre... ORPHA:99646
Holoprosencephaly 14
Ventricular septal defect, Alobar holoprosencephaly, Aqueductal stenosis, Hydrocephalus, Aortic v... OMIM:619895
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 8
Amyotrophic lateral sclerosis OMIM:619132
Muscle-Eye-Brain Disease With Bilateral Multicystic Leucodystrophy
Buphthalmos, Abnormal pons morphology, Abnormal brainstem morphology ORPHA:370997
Deafness, X-Linked 7
Unilateral microphthalmos OMIM:301018
Fraser Syndrome 2
Intestinal malrotation, Rectal atresia, Cutaneous syndactyly, Narrow mouth, Microphthalmia, Anal ... OMIM:617666
Myotubular Myopathy With Abnormal Genital Development
Atelectasis, Thin ribs OMIM:300219
Amyotrophic Lateral Sclerosis 26 With Or Without Frontotemporal Dementia
Amyotrophic lateral sclerosis OMIM:619133
Nestor-Guillermo Progeria Syndrome
Prominent superficial veins, Left atrial enlargement, Limited elbow movement, Thin ribs, Rib oste... OMIM:614008
Williams-Beuren Syndrome
Bicuspid aortic valve, Rectal prolapse, Flexion contracture, Gastroesophageal reflux, Atrial sept... OMIM:194050
Autosomal Dominant Keratitis
Hypoplasia of the fovea, Bilateral microphthalmos, Hypoplastic iris stroma, Macular hypoplasia, A... ORPHA:2334
Sotos Syndrome
Joint laxity, Hip contracture, Aganglionic megacolon, Ankle flexion contracture, Craniosynostosis... ORPHA:821
Spondyloepimetaphyseal Dysplasia, Genevieve Type
Ventriculomegaly, Flared metaphysis, Advanced ossification of carpal bones, Flat acetabular roof,... OMIM:610442
Pachyonychia Congenita 3
Chapped lip, Oral leukoplakia, Gingivitis, Furrowed tongue OMIM:615726
Microsporidiosis
Sinusitis, Osteomyelitis, Abnormality of the parathyroid gland, Thyroiditis, Adrenocortical abnor... ORPHA:2552
Coccidioidomycosis
Pericarditis, Pneumonia, Hydrocephalus, Vasculitis, Abnormal long bone morphology, Pleural empyem... ORPHA:228123
Adrenomyeloneuropathy
Atrophy of the spinal cord, Abnormal spinal cord morphology, Abnormality of skin pigmentation, Do... ORPHA:139399
Global Developmental Delay, Absent Or Hypoplastic Corpus Callosum, And Dysmorphic Facies
Patent ductus arteriosus, Coarctation of aorta, Colpocephaly, Talipes equinovarus, Mitral stenosi... OMIM:617260
1P36 Deletion Syndrome
11 pairs of ribs, Aortic arch aneurysm, Abnormal heart valve morphology, Camptodactyly of finger,... ORPHA:1606
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation
Ventricular septal defect, Tapered finger, Pectus excavatum, Short toe, Patent ductus arteriosus,... ORPHA:464311
Friedreich Ataxia 2
Abnormality of the dorsal column of the spinal cord, Abnormal medulla oblongata morphology, Conce... OMIM:601992
17Q24.2 Microdeletion Syndrome
Patent ductus arteriosus after birth at term, Upper limb undergrowth, Pulmonic stenosis, Cubitus ... ORPHA:529962
Trichothiodystrophy 4, Nonphotosensitive
Microphthalmia, Ventricular septal defect OMIM:234050
Distal Deletion 3P
Postaxial hand polydactyly, Clinodactyly of the 5th finger, Umbilical hernia, Atrioventricular ca... ORPHA:1620
X-Linked Myotubular Myopathy-Abnormal Genitalia Syndrome
Thin ribs ORPHA:456328
Skin Creases, Congenital Symmetric Circumferential, 1
Microphthalmia, Long fingers OMIM:156610
Cntnap2-Related Developmental And Epileptic Encephalopathy
Preaxial polydactyly, Abnormal neuron morphology ORPHA:163681
Mandibuloacral Dysplasia Progeroid Syndrome
Mitral valve calcification, Sandal gap, Decreased fibular diameter, Pectus excavatum, Osteolytic ... OMIM:619127
Lethal Congenital Contracture Syndrome 5
Subdural hemorrhage, Thin ribs OMIM:615368
Autosomal Dominant Centronuclear Myopathy
Proximal muscle weakness in upper limbs, Thin ribs ORPHA:169189
Histiocytoid Cardiomyopathy
Ventricular septal defect, Cardiomegaly, Hydrocephalus, Microphthalmia, Congenital aphakia, Pulmo... ORPHA:137675
Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency
2-5 finger syndactyly, Optic nerve hypoplasia, Camptodactyly of finger, Olivopontocerebellar hypo... ORPHA:468631
Chronic Recurrent Multifocal Osteomyelitis 2, With Periostitis And Pustulosis
Broad ribs, Pulmonary fibrosis, Flaring of rib cage OMIM:612852
Adult Syndrome
Finger syndactyly, Toe syndactyly, Abnormal dental morphology, Abnormality of the dentition, Spli... ORPHA:978
Vocal Cord And Pharyngeal Distal Myopathy
Amyotrophic lateral sclerosis, Distal upper limb amyotrophy, Shoulder girdle muscle weakness ORPHA:600
Gm1-Gangliosidosis, Type I
Thickened ribs, Abnormal heart valve morphology, Dilated cardiomyopathy, Cherry red spot of the m... OMIM:230500
Retinitis Pigmentosa 74
Pigmentary retinopathy, Polydactyly OMIM:616562
Microphthalmia, Isolated, With Corectopia
Microphthalmia OMIM:156900
Ectodermal Dysplasia-Blindness Syndrome
Abnormality of skin pigmentation, Microphthalmia ORPHA:1806
Plasminogen Deficiency, Type I
Hydrocephalus, Recurrent upper respiratory tract infections, Ventriculomegaly, Dandy-Walker malfo... OMIM:217090
Craniotubular Dysplasia, Ikegawa Type
Metaphyseal dysplasia, Ventricular septal defect, Broad ischia, Diaphyseal dysplasia, Short palm,... OMIM:619727
Papillorenal Syndrome
Microphthalmia, Edema OMIM:120330
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 6
Dandy-Walker malformation, Hydrocephalus, Lateral ventricle dilatation, Dilated third ventricle, ... OMIM:613154
Anterior Segment Dysgenesis 2
Aniridia, Microphthalmia, Congenital aphakia, Anterior segment of eye aplasia OMIM:610256
Pierson Syndrome
Rieger anomaly, Hypoplasia of the ciliary body, Edema, Hypoplasia of the iris, Macular hypoplasia... OMIM:609049
Optic Disc Anomalies With Retinal And/Or Macular Dystrophy
Buphthalmos, Microphthalmia OMIM:212550
Xeroderma Pigmentosum, Complementation Group B
Microphthalmia, Freckling, Pigmentary retinopathy OMIM:610651
Cornea Plana 2, Autosomal Recessive
Microphthalmia OMIM:217300
Noonan Syndrome-Like Disorder With Loose Anagen Hair 1
Inguinal hernia, Ventricular septal defect, Deep palmar crease, High palate, Pulmonic stenosis, A... OMIM:607721
17Q11 Microdeletion Syndrome
Rhabdomyosarcoma, Bowing of the legs, Abnormal internal carotid artery morphology, Gastrointestin... ORPHA:97685
Kagami-Ogata Syndrome
Coxa valga, Large placenta, Bell-shaped thorax, Coat hanger sign of ribs, Thoracic hypoplasia ORPHA:254519
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
Exudative Vitreoretinopathy 2, X-Linked
Microphthalmia OMIM:305390
Alagille Syndrome 1
Hypoplasia of the ulna, Ventricular septal defect, Abnormal rib morphology, Coarctation of aorta,... OMIM:118450
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome
Hallux valgus, Mitral valve calcification, Pectus excavatum, Aortic valve calcification, Hydrocep... ORPHA:2072
Skin Creases, Congenital Symmetric Circumferential, 2
Tapered finger, Pectus excavatum, Long fingers, 2-3 toe syndactyly, Short palm, Clinodactyly of t... OMIM:616734
Microcephaly 20, Primary, Autosomal Recessive
Microphthalmia, Optic nerve hypoplasia OMIM:617914
Rodrigues Blindness
Microphthalmia OMIM:268320
Neurooculorenal Syndrome
Dextrocardia, Short hallux, Aqueductal stenosis, Patent foramen ovale, Hydrocephalus, Mitral valv... OMIM:620305
Ring Chromosome 7 Syndrome
Single transverse palmar crease, Prominent crus of helix, Situs inversus totalis, Small hand, Gen... ORPHA:1449
Acrofrontofacionasal Dysostosis 1
Short metacarpal, Microphthalmia, Acetabular dysplasia, Broad thumb, Short distal phalanx of finger OMIM:201180
Anemia, Congenital Dyserythropoietic, Type Ia
Syndactyly, Hydrops fetalis OMIM:224120
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome
Abnormal midbrain morphology, Brachydactyly ORPHA:293987
Alzahrani-Kuwahara Syndrome
Ventricular septal defect, Pulmonary artery sling, Coronary sinus enlargement, Persistent left su... OMIM:619268
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome
Uterine prolapse, Bicuspid aortic valve, Ventricular septal defect, Patent ductus arteriosus, Ano... ORPHA:438213
Osteopetrosis, Autosomal Recessive 8
Unilateral microphthalmos OMIM:615085
Trichothiodystrophy 1, Photosensitive
Microphthalmia, Freckling OMIM:601675
Mucopolysaccharidosis Type 2, Severe Form
Thickened ribs, Abnormal heart valve morphology, Camptodactyly of finger, Abnormal pulmonary valv... ORPHA:217085
Trichothiodystrophy
Ventricular septal defect, Cryptorchidism, Bilateral microphthalmos, Clubbing, Cardiomyopathy, Nu... ORPHA:33364
Proteus Syndrome
Hallux valgus, Finger syndactyly, Macrodactyly, Abnormal dental enamel morphology, Metatarsus val... ORPHA:744
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome
Tapered finger, Cryptorchidism, Small hand, Hip dysplasia, Atrial septal defect, Microphthalmia, ... OMIM:620005
Mucopolysaccharidosis Type 2, Attenuated Form
Thickened ribs, Abnormal heart valve morphology, Camptodactyly of finger, Abnormal pulmonary valv... ORPHA:217093
Joubert Syndrome 38
Molar tooth sign on MRI OMIM:619476
Coloboma, Ocular, Autosomal Dominant
Microphthalmia, Optic nerve aplasia, Ventriculomegaly OMIM:120200
Microphthalmia, Isolated, With Coloboma 9
Microphthalmia OMIM:615145
Superficial Siderosis
Atrophy of the spinal cord, Abnormal spinal cord morphology, Atrophy/Degeneration affecting the b... ORPHA:247245
Norrie Disease
Aplasia/Hypoplasia of the lens, Diabetes mellitus, Cryptorchidism, Sensorineural hearing impairme... ORPHA:649
Microcornea-Posterior Megalolenticonus-Persistent Fetal Vasculature-Coloboma Syndrome
Microphthalmia ORPHA:231736
Facial Dysmorphism, Lens Dislocation, Anterior Segment Abnormalities, And Spontaneous Filtering Blebs
Broad hallux, Arachnodactyly, Cubitus valgus, Short finger, Microphthalmia OMIM:601552
Cog1-Cdg
Rhizomelia, Coxa valga, Rib fusion, Posterior rib gap, Flat acetabular roof, Short long bone, Tal... ORPHA:263508
Phace Syndrome
Optic nerve hypoplasia, Lens coloboma, Abnormal heart morphology, Abnormal cardiac septum morphol... ORPHA:42775
Oculo-Palato-Cerebral Syndrome
Short foot, Microphthalmia, Small hand ORPHA:2714
Familial Cerebral Saccular Aneurysm
Abnormal brainstem morphology ORPHA:231160
Kawasaki Disease
Arthritis, Glossitis, Cheilitis ORPHA:2331
Ehlers-Danlos Syndrome, Musculocontractural Type, 1
Arachnodactyly, Pectus excavatum, Pneumothorax, Mitral valve prolapse, Talipes equinovarus, Tricu... OMIM:601776
Intellectual Developmental Disorder, Autosomal Dominant 71, With Behavioral Abnormalities
Thin upper lip vermilion, Sandal gap, Ventricular septal defect, Optic nerve hypoplasia, Long fin... OMIM:620330
Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 1
Congenital hip dislocation, Arachnodactyly, Protrusio acetabuli, Recurrent pneumonia, Thin ribs, ... OMIM:225400
Renpenning Syndrome 1
Atrial septal defect, Ventricular septal defect, Situs inversus totalis, Tetralogy of Fallot, Cam... OMIM:309500
Cryptophthalmos, Unilateral Or Bilateral, Isolated
Microphthalmia OMIM:123570
Autosomal Recessive Spinocerebellar Ataxia-Blindness-Deafness Syndrome
Cochlear degeneration, Hearing impairment ORPHA:95433
Choreoacanthocytosis
Arthritis, Lateral ventricle dilatation, Temporomandibular joint crepitus, Protruding tongue ORPHA:2388
Norrie Disease
Hypoplasia of the iris, Microphthalmia, Buphthalmos OMIM:310600
Phace Association
Microphthalmia, Ventricular septal defect, Optic nerve hypoplasia OMIM:606519
Osteoporosis-Pseudoglioma Syndrome
Ventricular septal defect, Metaphyseal widening, Phthisis bulbi, Tibial bowing, Microphthalmia OMIM:259770
Neurofibromatosis Type 1 Due To Nf1 Mutation Or Intragenic Deletion
Ventricular septal defect, Abnormal tibia morphology, Genu valgum, Abnormal heart morphology, Mit... ORPHA:363700
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3
Hydrocephalus, Buphthalmos, Hypoplasia of the retina, Hypoplasia of the brainstem, Microphthalmia OMIM:253280
Linear Nevus Sebaceus Syndrome
Microphthalmia, Irregular hyperpigmentation, Melanocytic nevus ORPHA:2612
Genitourinary And/Or Brain Malformation Syndrome
Syndactyly, Jejunal atresia, Ileal atresia, Holoprosencephaly, Long philtrum OMIM:618820
Persistent Hyperplastic Primary Vitreous
Buphthalmos, Microphthalmia, Phthisis bulbi, Macular hypoplasia ORPHA:91495
Kenny-Caffey Syndrome, Type 2
Microphthalmia, Thickened cortex of long bones, Abnormality of the medullary cavity of the long b... OMIM:127000
Plague
Chapped lip, Enterocolitis, Arthritis, Inflammation of the large intestine, Glossitis, Hearing im... ORPHA:707
Pontine Tegmental Cap Dysplasia
Rib fusion OMIM:614688
Oculopalatocerebral Syndrome
Microphthalmia OMIM:257910
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive
Buphthalmos, Microphthalmia, Phthisis bulbi OMIM:221900
Xeroderma Pigmentosum, Complementation Group D
Microphthalmia OMIM:278730
Lowe Oculocerebrorenal Syndrome
Camptodactyly of finger, Wrist swelling, Cryptorchidism, Hip dislocation, Genu valgum, Finger swe... OMIM:309000
Blepharophimosis, Ptosis, And Epicanthus Inversus
Microphthalmia OMIM:110100
Cockayne Syndrome Type 3
Premature graying of hair, Microphthalmia, Cardiomyopathy ORPHA:90324
Watson Syndrome
Pulmonic stenosis OMIM:193520
Neurofibromatosis-Noonan Syndrome
Secundum atrial septal defect, Cubitus valgus, Pulmonic stenosis OMIM:601321
Primary Sjögren Syndrome
Abnormal spinal cord morphology, Xerostomia, Vitiligo ORPHA:289390
Bosma Arhinia Microphthalmia Syndrome
Microphthalmia, Cryptorchidism OMIM:603457
Fragile X-Associated Tremor/Ataxia Syndrome
Abnormal brainstem morphology ORPHA:93256
Brain Small Vessel Disease 1 With Or Without Ocular Anomalies
Hypoplasia of the iris, Microphthalmia, Hydrocephalus OMIM:175780

Histopathology

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

There is no histopathology data for Fuz

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 Fuz.

There are 1 publication which use IMPC produced mice or data.

Title Journal IMPC Allele PubMed ID
Fuz regulates craniofacial development through tissue specific responses to signaling factors. PloS one (September 2011) Fuztm1a(KOMP)Wtsi PMC3173472

Order Mouse and ES Cells

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

MGI Allele Allele Type Produced
Fuzem1(IMPC)Mbp Exon Deletion Mice, Tissue
Fuztm1e(KOMP)Wtsi Targeted, non-conditional allele ES Cells
Fuztm1a(KOMP)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells

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