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Gene: Chtop MGI:1913761

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Gene Summary

Name:
chromatin target of PRMT1
Synonyms:
2500003M10Rik,  friend of Prmt1,  Fop

Order Alleles

IMPC Data Collections

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 joint morphology Chtoptm1a(EUCOMM)Wtsi HET   Early adult 1.64×10-07
preweaning lethality, complete penetrance Chtoptm1a(EUCOMM)Wtsi HOM   Early adult 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 Skull Lateral Orientation

14 Images

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X-ray

XRay Images Whole Body Dorso Ventral

15 Images

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X-ray

XRay Images Skull Dorso Ventral Orientation

13 Images

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X-ray

XRay Images Forepaw

13 Images

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Eye Morphology

Images Slit Lamp

1 Images

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X-ray

XRay Images Whole Body Lateral Orientation

14 Images

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DSS Histology

Images

8 Images

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Anti-nuclear antibody assay

Images

6 Images

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Eye Morphology

Images Ophthalmoscopy

1 Images

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Ear epidermis immunophenotyping

Images

12 Images

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Legacy Phenotype Associated Images
Chtoptm1a(EUCOMM)Wtsi
WT, Female, WTSI
Chtoptm1a(EUCOMM)Wtsi
WT, Female, WTSI
Chtoptm1a(EUCOMM)Wtsi
WT, Female, WTSI
Chtoptm1a(EUCOMM)Wtsi
WT, Female, WTSI
Chtoptm1a(EUCOMM)Wtsi
WT, Female, WTSI

View all 132 images

Chtoptm1a(EUCOMM)Wtsi
HOM, Male, WTSI
Chtoptm1a(EUCOMM)Wtsi
HOM, Male, WTSI
Chtoptm1a(EUCOMM)Wtsi
HOM, Male, WTSI
Chtoptm1a(EUCOMM)Wtsi
HOM, Male, WTSI
Chtoptm1a(EUCOMM)Wtsi
HOM, Male, WTSI

View all 6 images

Chtoptm1a(EUCOMM)Wtsi
persistence of hyaloid vascular system, HET, Male, WTSI
Chtoptm1a(EUCOMM)Wtsi
fused cornea and lens, HET, Male, WTSI
Chtoptm1a(EUCOMM)Wtsi
polydactylous syndactyly, HET, Male, WTSI

Human diseases caused by Chtop mutations

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

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

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

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

Disease Similarity of
phenotypes		 Matching phenotypes Source
Spondyloarthropathy, Susceptibility To, 2
Abnormal joint morphology OMIM:183840
Coracoclavicular Joint, Anomalous
Abnormal joint morphology OMIM:121350
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome
Optic nerve hypoplasia, Pectus excavatum, Abnormal optic disc morphology, Long philtrum, Bicuspid... ORPHA:508498
Femoral-Facial Syndrome
Limited elbow movement, Aplasia/hypoplasia of the femur, Pulmonic stenosis, Short humerus, Absent... OMIM:134780
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins
Retrognathia, Meckel diverticulum, Dilatation of the bladder, Tracheoesophageal fistula, Intestin... OMIM:265380
Congenital Unilateral Hypoplasia Of Depressor Anguli Oris
Congenital diaphragmatic hernia, Renal hypoplasia/aplasia, Abnormal lower lip morphology, Vertebr... ORPHA:1166
Lung Agenesis-Heart Defect-Thumb Anomalies Syndrome
Abnormal lung lobation, Congenital diaphragmatic hernia, Atrioventricular canal defect, Abnormal ... ORPHA:1120
Heterotaxy, Visceral, 1, X-Linked
Enlarged kidney, Biliary atresia, Posteriorly placed anus, Myelomeningocele, Pulmonic stenosis, A... OMIM:306955
Emanuel Syndrome
Kyphoscoliosis, Congenital diaphragmatic hernia, Dental crowding, Pulmonic stenosis, Aortic valve... ORPHA:96170
Microphthalmia, Syndromic 9
Congenital diaphragmatic hernia, Multilobulated spleen, Right aortic arch with mirror image branc... OMIM:601186
8Q24.3 Microdeletion Syndrome
Gastrointestinal hemorrhage, Highly arched eyebrow, Optic nerve hypoplasia, Pectus excavatum, Abn... ORPHA:508488
Autosomal Recessive Spondylocostal Dysostosis
Congenital diaphragmatic hernia, Abnormal form of the vertebral bodies, Kyphosis, Umbilical herni... ORPHA:2311
Emanuel Syndrome
Congenital diaphragmatic hernia, Dental crowding, Kyphosis, Pulmonic stenosis, Aortic valve steno... OMIM:609029
Mosaic Trisomy 9
Abnormal liver lobulation, Hypoplasia of penis, Intestinal malrotation, Multiple renal cysts, Int... ORPHA:99776
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies
Multiple joint dislocation, Small pituitary gland, Dental crowding, Hyperlordosis, Thyroid hypopl... OMIM:619503
3C Syndrome
Hypoplasia of penis, Kyphosis, Pulmonic stenosis, Abnormal mitral valve morphology, Aortic valve ... ORPHA:7
Verheij Syndrome
Retrognathia, Optic nerve hypoplasia, Intrauterine growth retardation, Short 5th finger, Long phi... OMIM:615583
Ritscher-Schinzel Syndrome 1
Low posterior hairline, Pulmonic stenosis, Aortic valve stenosis, Intrauterine growth retardation... OMIM:220210
Spondylodysplastic Ehlers-Danlos Syndrome
Kyphoscoliosis, Subluxation of the small joints of the hand, Pectus carinatum, Optic nerve hypopl... ORPHA:536471
Fanconi Anemia
Abnormal carotid artery morphology, Reduced bone mineral density, Arteriovenous malformation, Ren... ORPHA:84
Holt-Oram Syndrome
Pectus excavatum, Kyphosis, Joint stiffness, Absent thumb, Abnormal clavicle morphology, Scoliosi... ORPHA:392
Fg Syndrome Type 1
Small pituitary gland, Dental crowding, Abnormal sternum morphology, Optic nerve hypoplasia, Wide... ORPHA:93932
Williams Syndrome
Abnormal carotid artery morphology, Everted lower lip vermilion, Wide mouth, Joint hypermobility,... ORPHA:904
1P36 Deletion Syndrome
Hypoplasia of penis, Abnormal intestine morphology, Kyphosis, Joint stiffness, Abnormal eyebrow m... ORPHA:1606
Microcephaly-Cardiac Defect-Lung Malsegmentation Syndrome
Abnormal lung lobation, High, narrow palate, Renal hypoplasia/aplasia, Truncus arteriosus, Abnorm... ORPHA:2516
Prune Belly Syndrome
Pectus excavatum, Intestinal malrotation, Congenital posterior urethral valve, Oligohydramnios, A... ORPHA:2970
Fryns Syndrome
Congenital diaphragmatic hernia, Abnormal aortic arch morphology, Intestinal malrotation, Wide mo... ORPHA:2059
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation
Pectus excavatum, Kyphosis, Aortic valve stenosis, Flexion contracture of finger, Intrauterine gr... ORPHA:464311
Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked
Retrognathia, Optic nerve hypoplasia, Pulmonic stenosis, Leukopenia, Intrauterine growth retardat... OMIM:301056
22Q11.2 Deletion Syndrome
Gastrointestinal hemorrhage, Corneal neovascularization, Abnormal aortic arch morphology, Anorect... ORPHA:567
Lateral Meningocele Syndrome
Dental crowding, Pectus excavatum, Kyphosis, Biconcave vertebral bodies, Umbilical hernia, Long p... OMIM:130720
Pallister-Hall Syndrome
Ectopic kidney, Hypothalamic hamartoma, Thyroid hypoplasia, Bifid uvula, Umbilical hernia, Intrau... ORPHA:672
Craniofacial Dysmorphism, Skeletal Anomalies, And Impaired Intellectual Development Syndrome 1
Highly arched eyebrow, Pectus excavatum, Low posterior hairline, Recurrent sinusitis, Joint hyper... OMIM:213980
Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum
Abnormal form of the vertebral bodies, Osteolysis involving bones of the lower limbs, Broad clavi... ORPHA:371428
Autosomal Recessive Multiple Pterygium Syndrome
Hypoplasia of penis, Abnormal sternum morphology, Pectus excavatum, Low posterior hairline, Hypog... ORPHA:2990
Dyrk1A-Related Intellectual Disability Syndrome
Pectus excavatum, Kyphosis, Aortic valve stenosis, Intrauterine growth retardation, Ventriculomeg... ORPHA:464306
Craniofaciofrontodigital Syndrome
Gastrointestinal hemorrhage, Pectus carinatum, Aortic valve stenosis, Lower eyelid edema, Arrhyth... ORPHA:363705
Chromosome 1P36 Deletion Syndrome, Distal
Ectopic kidney, Delayed skeletal maturation, Bifid uvula, Dysphagia, Lateral ventricle dilatation... OMIM:607872
Holoprosencephaly
Congenital diaphragmatic hernia, Solitary median maxillary central incisor, Abnormal form of the ... ORPHA:2162
14Q24.1Q24.3 Microdeletion Syndrome
Ectopic kidney, Dislocated radial head, Limited elbow extension and supination, Truncus arteriosu... ORPHA:401935
Recombinant Chromosome 8 Syndrome
Pectus excavatum, Low posterior hairline, Pulmonic stenosis, Ventriculomegaly, Scoliosis, Abnorma... OMIM:179613
Isolated Klippel-Feil Syndrome
Abnormal shoulder morphology, Renal hypoplasia/aplasia, Cervical C2/C3 vertebral fusion, Abnormal... ORPHA:2345
Variant Abeta2M Amyloidosis
Abnormal vascular morphology, Gastrointestinal infarctions, Abnormal salivary gland morphology, A... ORPHA:314652
Stankiewicz-Isidor Syndrome
Retrognathia, Sacral dimple, Ureteral duplication, Hypospadias, Truncus arteriosus, Cryptorchidis... OMIM:617516
Meckel Syndrome, Type 1
Occipital encephalocele, Anencephaly, Intestinal malrotation, Wide mouth, Splenomegaly, Intrauter... OMIM:249000
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome
Abnormal autonomic nervous system physiology, Abnormal heart morphology, Bifid uvula, Bicuspid ao... ORPHA:453499
Kleefstra Syndrome
Hypoplasia of penis, Highly arched eyebrow, Everted lower lip vermilion, Bicuspid aortic valve, V... ORPHA:261494
Pallister-Hall Syndrome
Ectopic kidney, Hypothalamic hamartoma, Shortening of all distal phalanges of the fingers, Decrea... OMIM:146510
Intellectual Disability-Craniofacial Dysmorphism-Cryptorchidism Syndrome
Highly arched eyebrow, Abnormal renal morphology, Pectus excavatum, Wide mouth, Umbilical hernia,... ORPHA:329224
Congenitally Uncorrected Transposition Of The Great Arteries
Abnormal QRS complex, Abnormal aortic arch morphology, Abnormality of blood circulation, Abnormal... ORPHA:860
Autosomal Recessive Robinow Syndrome
Disproportionate short-limb short stature, Hypoplasia of penis, Pectus carinatum, Pectus excavatu... ORPHA:1507
Hennekam Lymphangiectasia-Lymphedema Syndrome 1
Retrognathia, Ectopic kidney, Pectus excavatum, Delayed skeletal maturation, Nonimmune hydrops fe... OMIM:235510
Congenital Heart Defects And Skeletal Malformations Syndrome
Congenital diaphragmatic hernia, Repeated pneumothoraces, Dental crowding, Pectus excavatum, Kyph... OMIM:617602
Koolen-De Vries Syndrome Due To A Point Mutation
Spondylolisthesis, Pectus carinatum, Hyperlordosis, Cardiomyopathy, Everted lower lip vermilion, ... ORPHA:363965
17Q21.31 Microdeletion Syndrome
Spondylolisthesis, Pectus carinatum, Hyperlordosis, Cardiomyopathy, Everted lower lip vermilion, ... ORPHA:363958
Pseudotrisomy 13 Syndrome
Cyclopia, Tricuspid atresia, Encephalocele, Hydrocephalus, Hemivertebrae, Holoprosencephaly, Micr... OMIM:264480
Scimitar Syndrome
Bronchogenic cyst, Pulmonary sequestration, Mitral atresia, Left-to-right shunt, Hypoplasia of th... ORPHA:185
Congenital Alveolar Capillary Dysplasia
Tracheoesophageal fistula, Aortic valve stenosis, Intestinal malrotation, Bicuspid aortic valve, ... ORPHA:210122
Congenital Hemidysplasia With Ichthyosiform Erythroderma And Limb Defects
Absent toe, Short ribs, Thyroid hypoplasia, Umbilical hernia, Abnormal cardiac septum morphology,... OMIM:308050
Opitz Gbbb Syndrome
Congenital diaphragmatic hernia, Tracheoesophageal fistula, Abnormal heart morphology, Recurrent ... ORPHA:2745
Williams-Beuren Syndrome
Kyphoscoliosis, Premature graying of hair, Abnormal renal morphology, Hypertension, Pectus excava... OMIM:194050
Thanatophoric Dysplasia Type 2
Abnormality of the kidney, Polyhydramnios, Platyspondyly, Narrow chest, Encephalocele, Short thor... ORPHA:93274
Chondrocalcinosis 2
Polyarticular chondrocalcinosis, Arthropathy, Osteoarthritis OMIM:118600
Fliedner-Zweier Syndrome
Long philtrum, Unilateral renal agenesis, Hypoplastic aortic arch, Meningocele, Scoliosis, High p... OMIM:620511
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 3
Sacral dimple, Unilateral renal agenesis, Short thorax, Anomalous origin of left coronary artery ... OMIM:618845
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 1
Spondylolisthesis, Dental crowding, Everted lower lip vermilion, Pectus excavatum, Pulmonic steno... OMIM:617877
Toe Syndactyly, Telecanthus, And Anogenital And Renal Malformations
Hydroureter, Spina bifida occulta, Valvular pulmonary stenosis, Rectovaginal fistula, Craniosynos... OMIM:300707
Chops Syndrome
Cervical C2/C3 vertebral fusion, Splenomegaly, Long philtrum, Optic atrophy, Patent foramen ovale... OMIM:616368
Bannayan-Riley-Ruvalcaba Syndrome
Intestinal polyposis, Arteriovenous malformation, Lipoma, Pectus excavatum, Delayed skeletal matu... ORPHA:109
Meacham Syndrome
Enlarged kidney, Bicuspid aortic valve, Congenital alveolar dysplasia, Transposition of the great... OMIM:608978
Intellectual Developmental Disorder With Cardiac Defects And Dysmorphic Facies
Highly arched eyebrow, Pectus excavatum, Intestinal malrotation, Long philtrum, Mesenteric cyst, ... OMIM:618316
Biliary, Renal, Neurologic, And Skeletal Syndrome
Inlet ventricular septal defect, Intrahepatic bile duct dilatation, Cholestasis, Everted lower li... OMIM:619534
Koolen-De Vries Syndrome
Spondylolisthesis, Everted lower lip vermilion, Pectus excavatum, Kyphosis, Pulmonic stenosis, Bi... OMIM:610443
Treacher-Collins Syndrome
Retrognathia, Hypoplasia of penis, Glossoptosis, Thyroid hypoplasia, Tracheoesophageal fistula, T... ORPHA:861
Brachytelephalangic Chondrodysplasia Punctata
Optic nerve hypoplasia, Short distal phalanx of toe, Short distal phalanx of finger, Butterfly ve... ORPHA:79345
Lowry-Maclean Syndrome
Congenital diaphragmatic hernia, Retrognathia, Generalized hypertrichosis, Intrauterine growth re... ORPHA:2409
Spondylocostal Dysostosis 4, Autosomal Recessive
Aplasia of posterior communicating artery, Pectus excavatum, Myelomeningocele, Short thorax, Hydr... OMIM:613686
Rubinstein-Taybi Syndrome 1
Retrognathia, Dislocated radial head, Dental crowding, Highly arched eyebrow, Pectus excavatum, L... OMIM:180849
Cat Eye Syndrome
Biliary atresia, Meckel diverticulum, Pulmonic stenosis, Intestinal malrotation, Umbilical hernia... OMIM:115470
Fanconi Anemia, Complementation Group F
Bone marrow hypocellularity, Absent thumb, Leukopenia, Intrauterine growth retardation, Hypoplasi... OMIM:603467
Microcephaly-Corpus Callosum And Cerebellar Vermis Hypoplasia-Facial Dysmorphism-Intellectual Disability Syndrom
Patent ductus arteriosus, Hypospadias, Ventriculomegaly, Highly arched eyebrow, Tracheobronchomal... ORPHA:500159
15Q24 Microdeletion Syndrome
Congenital diaphragmatic hernia, Myelomeningocele, Kyphosis, Abnormal heart morphology, Long phil... ORPHA:94065
Short-Rib Thoracic Dysplasia 12
Anencephaly, Short ribs, Ascites, Intestinal malrotation, Splenomegaly, Intrauterine growth retar... OMIM:269860
Adams-Oliver Syndrome
Gastrointestinal hemorrhage, Cirrhosis, Arteriovenous malformation, Encephalocele, Hydrocephalus,... ORPHA:974
Holoprosencephaly-Postaxial Polydactyly Syndrome
Renal hypoplasia/aplasia, Hypoplasia of penis, Thyroid hypoplasia, Intestinal malrotation, Hypopl... ORPHA:2166
Familial Multiple Nevi Flammei
Arteriovenous malformation, Venous insufficiency, Abnormal cranial nerve morphology, Scoliosis, I... ORPHA:624
Hardikar Syndrome
Hematemesis, Bilateral cleft palate, Intrahepatic bile duct dilatation, Hypertension, Cholestasis... OMIM:301068
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects
Congenital diaphragmatic hernia, Multiple joint dislocation, Dislocated radial head, Pectus carin... OMIM:245600
Primary Ciliary Dyskinesia
Abnormal atrial arrangement, Abnormal inferior vena cava morphology, Intestinal malrotation, Abno... ORPHA:244
8P23.1 Microdeletion Syndrome
Congenital diaphragmatic hernia, Thin vermilion border, Transposition of the great arteries, Atri... ORPHA:251071
Developmental Delay With Or Without Dysmorphic Facies And Autism
Congenital diaphragmatic hernia, Highly arched eyebrow, Wide mouth, Umbilical hernia, Ventriculom... OMIM:618454
Axial Mesodermal Dysplasia Spectrum
Congenital diaphragmatic hernia, Renal hypoplasia/aplasia, Anorectal anomaly, Abnormal form of th... ORPHA:1834
Triploidy
Abnormality of the gallbladder, Hypoplasia of penis, Decreased skull ossification, Intestinal mal... ORPHA:3376
Skraban-Deardorff Syndrome
Absent cupid's bow, Widely spaced teeth, Right aortic arch, Sparse lateral eyebrow, Micrognathia,... OMIM:617616
Charge Syndrome
Delayed puberty, Tracheoesophageal fistula, Absent tibia, Pulmonic stenosis, Dysphagia, Umbilical... OMIM:214800
Simpson-Golabi-Behmel Syndrome, Type 1
Congenital diaphragmatic hernia, Enlarged kidney, Meckel diverticulum, Pectus carinatum, Short ri... OMIM:312870
Genitopalatocardiac Syndrome
Transposition of the great arteries, Hypospadias, Right aortic arch, Renal cyst, Cleft upper lip,... OMIM:231060
Partial Atrioventricular Septal Defect
Coronary sinus enlargement, Aortic valve stenosis, Heart murmur, Bicuspid aortic valve, Abnormal ... ORPHA:1330
Encephalocraniocutaneous Lipomatosis
Lipoma, Hydrocephalus, Pelvic kidney, Dandy-Walker malformation, Cryptorchidism, Hydronephrosis, ... OMIM:613001
Short Stature-Wormian Bones-Dextrocardia Syndrome
Renal hypoplasia/aplasia, Dextrocardia, Anterior hypopituitarism, Delayed eruption of teeth, Broa... ORPHA:2863
Branchial Arch Abnormalities, Choanal Atresia, Athelia, Hearing Loss, And Hypothyroidism Syndrome
Nail dystrophy, Thyroid hypoplasia, Prolonged neonatal jaundice, Bifid uvula, Broad philtrum, Apl... OMIM:620186
Intellectual Developmental Disorder, Autosomal Dominant 48
Hypospadias, Highly arched eyebrow, Tracheobronchomalacia, Scoliosis, Synophrys, Umbilical hernia... OMIM:617751
Charge Syndrome
Delayed puberty, Highly arched eyebrow, Tracheoesophageal fistula, Dysphagia, Umbilical hernia, I... ORPHA:138
Contractural Arachnodactyly, Congenital
Kyphoscoliosis, Pectus carinatum, Wrist flexion contracture, Limited knee extension, Congenital f... OMIM:121050
Mosaic Trisomy 1
Congenital diaphragmatic hernia, Wide mouth, Lateral ventricle dilatation, Elbow flexion contract... ORPHA:1692
Trisomy 1Q
Congenital diaphragmatic hernia, Ventriculomegaly, Hydrops fetalis, Short thorax, Hydrocephalus, ... ORPHA:261344
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation
Intestinal pseudo-obstruction, Optic nerve hypoplasia, Abnormality of primary teeth, Tooth agenes... ORPHA:453504
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion
Intestinal pseudo-obstruction, Optic nerve hypoplasia, Abnormality of primary teeth, Tooth agenes... ORPHA:352665
Iniencephaly
Congenital diaphragmatic hernia, Anencephaly, Hyperlordosis, Myelomeningocele, Absent vertebra, R... ORPHA:63259
Smith-Lemli-Opitz Syndrome
Congenital diaphragmatic hernia, Abnormality of the gallbladder, Renal hypoplasia/aplasia, Abnorm... ORPHA:818
Hadziselimovic Syndrome
Thick lower lip vermilion, Ventricular hypertrophy, High palate, Pulmonary artery atresia, Anal a... OMIM:612946
Congenital Disorder Of Glycosylation, Type Ih
Perimembranous ventricular septal defect, Protein-losing enteropathy, Hepatomegaly, Anemia, Edema... OMIM:608104
Zttk Syndrome
Kyphosis, Bifid uvula, Cervical ribs, Joint hypermobility, Craniosynostosis, Intrauterine growth ... OMIM:617140
Robinow Syndrome
Kyphoscoliosis, Mesomelic arm shortening, Acromesomelia, Broad alveolar ridges, Dental crowding, ... ORPHA:97360
Basal Cell Nevus Syndrome 1
Kyphoscoliosis, Cardiac rhabdomyoma, Hamartomatous stomach polyps, Ovarian fibroma, Abnormal ster... OMIM:109400
Microcephalic Osteodysplastic Primordial Dwarfism, Type I
Hypertension, Short metacarpal, Delayed skeletal maturation, Prolonged neonatal jaundice, Short h... OMIM:210710
Thrombocytopenia 11 With Multiple Congenital Anomalies And Dysmorphic Facies
Retrognathia, Dental crowding, Pectus carinatum, Ventricular hypertrophy, Pulmonic stenosis, Leuk... OMIM:620654
Hajdu-Cheney Syndrome
Delayed puberty, Partial absence of toe, Pectus carinatum, Decreased skull ossification, Kyphosis... ORPHA:955
Macrothrombocytopenia-Lymphedema-Developmental Delay-Facial Dysmorphism-Camptodactyly Syndrome
Abnormality of the endocrine system, Highly arched eyebrow, Abnormal sternum morphology, Abnormal... ORPHA:487796
Kabuki Syndrome
Congenital diaphragmatic hernia, Renal hypoplasia/aplasia, Abnormal form of the vertebral bodies,... ORPHA:2322
Aicardi Syndrome
Lipoma, Lateral ventricle dilatation, Optic atrophy, Butterfly vertebrae, Dandy-Walker malformati... OMIM:304050
Heterotaxy, Visceral, 4, Autosomal
Atrioventricular canal defect, Transposition of the great arteries, Dextrocardia, Right aortic ar... OMIM:613751
Thoc6-Related Developmental Delay-Microcephaly-Facial Dysmorphism Syndrome
Retrognathia, Left-to-right shunt, Abnormal heart morphology, Ventriculomegaly, Abnormality of th... ORPHA:363444
Intellectual Developmental Disorder With Impaired Language And Dysmorphic Facies
Arteria lusoria, Supernumerary nipple, Inguinal hernia, Highly arched eyebrow, Pelvic kidney, Pat... OMIM:618653
Mucopolysaccharidosis Type 7
Anterior beaking of lumbar vertebrae, Arteriovenous malformation, Hydrops fetalis, Inguinal herni... ORPHA:584
Desmosterolosis
Retrognathia, Renal hypoplasia/aplasia, Intestinal malrotation, Bifid uvula, Severe short stature... ORPHA:35107
Congenital Disorder Of Glycosylation, Type Iig
Kyphoscoliosis, Glossoptosis, Lateral ventricle dilatation, Left ventricular hypertrophy, Long ph... OMIM:611209
Mowat-Wilson Syndrome
Urinary incontinence, Dental crowding, Pectus carinatum, Everted lower lip vermilion, Pectus exca... ORPHA:2152
7Q11.23 Microduplication Syndrome
Congenital diaphragmatic hernia, Retrognathia, Pectus excavatum, Abnormal optic disc morphology, ... ORPHA:96121
Vacterl/Vater Association
Congenital diaphragmatic hernia, Occipital encephalocele, Abnormality of the gallbladder, Anencep... ORPHA:887
Femoral-Facial Syndrome
Renal hypoplasia/aplasia, Long philtrum, Ventriculomegaly, Abnormal sacrum morphology, Inguinal h... ORPHA:1988
Cardioacrofacial Dysplasia 2
Left superior vena cava draining to coronary sinus, Atrioventricular canal defect, Genu valgum, S... OMIM:619143
Intellectual Disability-Strabismus Syndrome
Congenital diaphragmatic hernia, Highly arched eyebrow, Congenital finger flexion contractures, W... ORPHA:363528
Down Syndrome
Joint hypermobility, Aganglionic megacolon, Patent foramen ovale, Pulmonary artery stenosis, Shor... OMIM:190685
Mowat-Wilson Syndrome Due To Monosomy 2Q22
Urinary incontinence, Dental crowding, Pectus carinatum, Pectus excavatum, Pulmonic stenosis, Aor... ORPHA:261537
Klippel-Trénaunay Syndrome
Congestive heart failure, Gastrointestinal hemorrhage, Hepatomegaly, Abnormal tricuspid valve mor... ORPHA:90308
Baraitser-Winter Syndrome 1
Postnatal growth retardation, Retrognathia, Long philtrum, Orofacial cleft, Highly arched eyebrow... OMIM:243310
Ciliary Dyskinesia, Primary, 53
Abdominal situs inversus, Situs inversus totalis, Perimembranous ventricular septal defect, Paten... OMIM:620642
Sotos Syndrome
Accelerated skeletal maturation, Prolonged neonatal jaundice, Joint hypermobility, Ventriculomega... OMIM:117550
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation
Urinary incontinence, Highly arched eyebrow, Dental crowding, Pectus carinatum, Pectus excavatum,... ORPHA:261552
Heterotaxy, Visceral, 7, Autosomal
Hypoplasia of right ventricle, Situs inversus totalis, Transposition of the great arteries, Abnor... OMIM:616749
Cardiac, Facial, And Digital Anomalies With Developmental Delay
Pectus carinatum, Aortic valve stenosis, Delayed skeletal maturation, Umbilical hernia, Bicuspid ... OMIM:618164
Pmp22-Rai1 Contiguous Gene Duplication Syndrome
Long philtrum, Decreased nerve conduction velocity, Joint hypermobility, Aortic aneurysm, Abnorma... ORPHA:477817
Ogden Syndrome
Left atrial enlargement, Everted upper lip vermilion, Enlarged kidney, Pectus excavatum, Prematur... OMIM:300855
Peters Plus Syndrome
Ureteral duplication, Renal hypoplasia/aplasia, Disproportionate short-limb short stature, Pulmon... ORPHA:709
Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome Due To 10P11.21P12.31 Microdeletion
Absent cupid's bow, Ventricular hypertrophy, Celiac disease, Synophrys, Pulmonic stenosis, Coarct... ORPHA:284169
Loeys-Dietz Syndrome 4
Retrognathia, Arterial tortuosity, Spondylolisthesis, Abnormal sternum morphology, Aortic tortuos... OMIM:614816
Right Atrial Isomerism
Abnormal lung lobation, Situs inversus totalis, Transposition of the great arteries, Dextrocardia... OMIM:208530
Neurodevelopmental Disorder With Short Stature, Prominent Forehead, And Feeding Difficulties
Urinary incontinence, Polyhydramnios, Gastroesophageal reflux, Aortic aneurysm, Limb hypertonia, ... OMIM:620070
Cantu Syndrome
Delayed skeletal maturation, Umbilical hernia, Bicuspid aortic valve, Long philtrum, Cardiomegaly... OMIM:239850
Intellectual Developmental Disorder, X-Linked 112
Kyphoscoliosis, Ectopic kidney, Kyphosis, Abnormal heart morphology, Bicuspid aortic valve, Joint... OMIM:301111
Heterotaxy, Visceral, 5, Autosomal
Ureteral duplication, Ureteral stenosis, Intestinal malrotation, Absence of the sacrum, Intrauter... OMIM:270100
Alg12-Cdg
Prolonged prothrombin time, Abnormal bone ossification, Low posterior hairline, Intestinal malrot... ORPHA:79324
Duane-Radial Ray Syndrome
Pectoralis hypoplasia, Short humerus, Absent thumb, Absent radius, Renal malrotation, Hypoplasia ... OMIM:607323
Microform Holoprosencephaly
Orofacial cleft, Cyclopia, Iris coloboma, Solitary median maxillary central incisor, Maternal dia... ORPHA:280200
Aminopterin/Methotrexate Embryofetopathy
Situs inversus totalis, Anencephaly, Encephalocele, Meningocele, Aplasia/Hypoplasia of the thumb,... ORPHA:1908
Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency
Retrognathia, Optic nerve hypoplasia, Severe short stature, Intrauterine growth retardation, Cran... ORPHA:468631
Arterial Tortuosity Syndrome
Congenital diaphragmatic hernia, Pectus carinatum, Ventricular hypertrophy, Hypertension, Aortic ... OMIM:208050
Moyamoya Disease 4 With Short Stature, Hypergonadotropic Hypogonadism, And Facial Dysmorphism
Premature graying of hair, Retrognathia, Decreased cirrculating antimullerian hormone circulation... OMIM:300845
Distal 22Q11.2 Microdeletion Syndrome
Highly arched eyebrow, Hyperlordosis, Short distal phalanx of finger, Joint hypermobility, Intrau... ORPHA:261330
Distal Deletion 13Q
Optic atrophy, Renal hypoplasia/aplasia, Anencephaly, Encephalocele, Abnormal form of the vertebr... ORPHA:1590
Sweeney-Cox Syndrome
Short distal phalanx of finger, Widow's peak, Short philtrum, Patent foramen ovale, Asplenia, Pat... OMIM:617746
Distal Deletion 10Q
Facial diplegia, Pectus excavatum, Lateral ventricle dilatation, Craniosynostosis, Hip dislocatio... ORPHA:96148
Fanconi Anemia, Complementation Group D2
Ectopic kidney, Tracheoesophageal fistula, Aplasia of the 1st metacarpal, Bone marrow hypocellula... OMIM:227646
Spinal Arteriovenous Metameric Syndrome
Kyphoscoliosis, Congestive heart failure, Spinal arteriovenous malformation, Abnormality of the k... ORPHA:53721
Aicardi Syndrome
Delayed puberty, Intestinal polyposis, Ventriculomegaly, Optic atrophy, Butterfly vertebrae, Shor... ORPHA:50
Linear Skin Defects With Multiple Congenital Anomalies 2
Congenital diaphragmatic hernia, Nail dystrophy, Highly arched eyebrow, Ventricular hypertrophy, ... OMIM:300887
Koolen-De Vries Syndrome
Ureteral duplication, Everted lower lip vermilion, Microdontia, Pectus excavatum, Kyphosis, Bicus... ORPHA:96169
Chromosome 6Pter-P24 Deletion Syndrome
Dental crowding, Pectus excavatum, Umbilical hernia, Joint hypermobility, Telangiectasia, Hydroce... OMIM:612582
Cardiac Diverticulum
Abnormal coronary artery origin, Premature ventricular contraction, Aortic valve stenosis, Abnorm... ORPHA:1686
Congenital Heart Defects, Multiple Types, 8, With Or Without Heterotaxy
Partial anomalous pulmonary venous return, Solitary median maxillary central incisor, Dextrocardi... OMIM:619657
Fontaine Progeroid Syndrome
Retrognathia, Everted lower lip vermilion, Microdontia, Low posterior hairline, Delayed skeletal ... OMIM:612289
Noonan Syndrome 2
Abnormal coronary artery origin, Abnormal sternum morphology, Pectus carinatum, Cardiomyopathy, P... OMIM:605275
Osteopathia Striata With Cranial Sclerosis
Flexion contracture of toe, Dental crowding, Pectus excavatum, Intestinal malrotation, Paranasal ... OMIM:300373
Smith-Lemli-Opitz Syndrome
Cholestatic liver disease, Broad alveolar ridges, Dental crowding, Hypertension, Intestinal malro... OMIM:270400
Loeys-Dietz Syndrome 6
Congenital diaphragmatic hernia, Arterial tortuosity, Abnormal sternum morphology, Ventricular hy... OMIM:619656
Hypothyroidism Due To Deficient Transcription Factors Involved In Pituitary Development Or Function
Pituitary dwarfism, Decreased thyroid-stimulating hormone level, Bradycardia, Optic nerve hypopla... ORPHA:226307
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome
Abnormal vertebral morphology, 11 pairs of ribs, Esophageal atresia, Hypoplasia of penis, Hypospa... ORPHA:77298
Focal Dermal Hypoplasia
Congenital diaphragmatic hernia, Abnormality of the pulmonary vasculature, Renal hypoplasia/aplas... ORPHA:2092
Cornelia De Lange Syndrome 1
Congenital diaphragmatic hernia, Ectopic kidney, Dislocated radial head, Abnormal renal morpholog... OMIM:122470
Wolf-Hirschhorn Syndrome
Congenital diaphragmatic hernia, Abnormality of the gallbladder, Abnormal form of the vertebral b... ORPHA:280
Mosaic Variegated Aneuploidy Syndrome
Rhabdomyosarcoma, Intestinal polyposis, Ascites, Intrauterine growth retardation, Ventriculomegal... ORPHA:1052
Miller-Dieker Lissencephaly Syndrome
Joint contracture of the hand, Sacral dimple, Polyhydramnios, Inguinal hernia, Delayed eruption o... OMIM:247200
Pelizaeus-Merzbacher Disease
Optic atrophy, Arteriovenous malformation, Scoliosis, Kyphosis, Joint stiffness, Short stature, R... ORPHA:702
Turner Syndrome Due To Structural X Chromosome Anomalies
Delayed puberty, Retrognathia, Cholestatic liver disease, Reduced bone mineral density, Prolonged... ORPHA:99413
Mosaic Monosomy X
Delayed puberty, Retrognathia, Cholestatic liver disease, Reduced bone mineral density, Prolonged... ORPHA:99228
Monosomy X
Delayed puberty, Retrognathia, Cholestatic liver disease, Reduced bone mineral density, Prolonged... ORPHA:99226
Turner Syndrome
Delayed puberty, Retrognathia, Cholestatic liver disease, Reduced bone mineral density, Prolonged... ORPHA:881
Heart Defects, Congenital, And Other Congenital Anomalies
Congenital diaphragmatic hernia, Ureteral duplication, Biliary atresia, Microcolon, Pulmonic sten... OMIM:600001
Aortic Arch Anomaly-Facial Dysmorphism-Intellectual Disability Syndrome
Arteriovenous malformation, Abnormal aortic arch morphology, Mandibular prognathia, Narrow mouth,... ORPHA:1110
Pentalogy Of Cantrell
Congenital diaphragmatic hernia, Anencephaly, Abnormal sternum morphology, Hypospadias, Encephalo... ORPHA:1335
Distal 7Q11.23 Microduplication Syndrome
Congenital diaphragmatic hernia, Aortic aneurysm, Hydrocephalus, Patent ductus arteriosus, Fronta... ORPHA:261102
Acrocardiofacial Syndrome
Hypospadias, Joint dislocation, Hypoplasia of penis, Truncus arteriosus, Anal atresia, Cryptorchi... ORPHA:2008
Double Outlet Right Ventricle
Hypoparathyroidism, Tachycardia, Truncus arteriosus, Narrow mouth, Pulmonary artery atresia, Apla... ORPHA:3426
Axial Spondylometaphyseal Dysplasia
Delayed ossification of carpal bones, Short ribs, Flat acetabular roof, Cupped ribs, Flared, irre... ORPHA:168549
Meacham Syndrome
Abnormal lung lobation, Situs inversus totalis, Congenital diaphragmatic hernia, Transposition of... ORPHA:3097
Helsmoortel-Van Der Aa Syndrome
Enlarged kidney, Hyperlordosis, Everted lower lip vermilion, Microdontia, Pectus excavatum, Short... OMIM:615873
Snijders Blok-Campeau Syndrome
Perimembranous ventricular septal defect, Widely spaced teeth, Inguinal hernia, Scoliosis, High p... OMIM:618205
2Q37 Microdeletion Syndrome
Congenital diaphragmatic hernia, Thin vermilion border, Multicystic kidney dysplasia, Tracheomala... ORPHA:1001
Cleft Palate, Cardiac Defects, And Impaired Intellectual Development
Perimembranous ventricular septal defect, High anterior hairline, Gastroesophageal reflux, Short ... OMIM:600987
Mycophenolate Mofetil Embryopathy
Congenital diaphragmatic hernia, Orofacial cleft, Hydrops fetalis, Ectopic kidney, Tracheomalacia... ORPHA:268249
Gorlin Syndrome
Orofacial cleft, Abnormal vertebral morphology, Odontogenic keratocysts of the jaw, Vertebral wed... ORPHA:377
Vacterl Association, X-Linked, With Or Without Hydrocephalus
Enlarged kidney, Atrioventricular canal defect, Transposition of the great arteries, Esophageal a... OMIM:314390
Chromosome 9P Deletion Syndrome
Retrognathia, Highly arched eyebrow, Heart murmur, Long philtrum, Narrow palate, Perimembranous v... OMIM:158170
Monosomy 18Q
Kyphoscoliosis, Pulmonary valve defects, Pectus excavatum, Left-to-right shunt, Atlantoaxial abno... ORPHA:1600
Diabetic Embryopathy
Transposition of the great arteries, Ureteral duplication, Renal hypoplasia/aplasia, Abnormal sac... ORPHA:1926
Zaki Syndrome
Congenital diaphragmatic hernia, Sacral dimple, Patent ductus arteriosus, Short philtrum, Patent ... OMIM:619648
Renal-Hepatic-Pancreatic Dysplasia 1
Enlarged kidney, Hyperechogenic pancreas, Cholestasis, Biliary cirrhosis, Aortic valve stenosis, ... OMIM:208540
Cardiospondylocarpofacial Syndrome
Congenital diaphragmatic hernia, Delayed skeletal maturation, Wide mouth, Dysplastic tricuspid va... OMIM:157800
Distal Monosomy 7Q36
Optic atrophy, Hypoplasia of penis, Non-midline cleft of the upper lip, Pectus excavatum, Short s... ORPHA:1636
Kyphoscoliotic Ehlers-Danlos Syndrome Due To Lysyl Hydroxylase 1 Deficiency
Thoracic kyphoscoliosis, Pectus excavatum, Arterial dissection, Mitral valve prolapse, Umbilical ... ORPHA:1900
Coffin-Siris Syndrome 3
Delayed skeletal maturation, Abnormal heart morphology, Wide mouth, Umbilical hernia, Joint hyper... OMIM:614608
Microphthalmia, Syndromic 3
Optic nerve hypoplasia, Hypothalamic hamartoma, Butterfly vertebrae, Hypospadias, Hemivertebrae, ... OMIM:206900
Familial Thoracic Aortic Aneurysm And Aortic Dissection
Retrognathia, Descending thoracic aorta aneurysm, Abnormality of connective tissue, Abnormal ster... ORPHA:91387
Hennekam Syndrome
Retrognathia, Arteriovenous malformation, Ectopic kidney, Ascites, Tooth agenesis, Lymphangioma, ... ORPHA:2136
Distal Deletion 15Q
Congenital diaphragmatic hernia, Abnormal aortic arch morphology, Double outlet right ventricle w... ORPHA:1596
Classical Ehlers-Danlos Syndrome
Dislocated radial head, Arteriovenous fistula, Arterial dissection, Cigarette-paper scars, Bruisi... ORPHA:287
Parkes Weber Syndrome
Arteriovenous malformation, Arteriovenous fistula, Bounding pulse, Cerebral arteriovenous malform... ORPHA:90307
Proximal 16P11.2 Microdeletion Syndrome
Congenital diaphragmatic hernia, Abnormal aortic valve morphology, Abnormal vertebral morphology,... ORPHA:261197
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome
Flexion contracture of toe, Wide mouth, Recurrent aspiration pneumonia, Dysphagia, Ventriculomega... ORPHA:280633
Chromosome 1Q41-Q42 Deletion Syndrome
Congenital diaphragmatic hernia, Pectus excavatum, Ventriculomegaly, Short philtrum, Scoliosis, S... OMIM:612530
Even-Plus Syndrome
Dysplastic corpus callosum, Highly arched eyebrow, Recurrent urinary tract infections, Patent for... OMIM:616854
Homocystinuria Due To Cystathionine Beta-Synthase Deficiency
Gastrointestinal hemorrhage, Arteriovenous malformation, Dental crowding, Pectus carinatum, Hyper... ORPHA:394
Hoxha-Aliu Syndrome
Contracture of the proximal interphalangeal joint of the 4th finger, Absent fifth metatarsal, Pec... OMIM:620662
Diamond-Blackfan Anemia 1
Retrognathia, Hypoplastic coccygeal vertebrae, Macrocytic anemia, Absent thumb, Hypoplastic sacra... OMIM:105650
Schuurs-Hoeijmakers Syndrome
Highly arched eyebrow, Patent foramen ovale, Synophrys, Long eyelashes, Downturned corners of mou... OMIM:615009
Greig Cephalopolysyndactyly Syndrome
Hypospadias, Inguinal hernia, Ventriculomegaly, Hydrocephalus, Metopic synostosis, Delayed crania... OMIM:175700
White-Sutton Syndrome
Congenital diaphragmatic hernia, Optic nerve hypoplasia, Bifid uvula, Sparse hair, Joint hypermob... OMIM:616364
Cerebrofaciothoracic Dysplasia
Low posterior hairline, Wide mouth, Broad philtrum, Ventriculomegaly, Hernia, Scoliosis, Hemivert... ORPHA:1394
Cutis Marmorata Telangiectatica Congenita
Orofacial cleft, Purpura, Reduced bone mineral density, Arteriovenous malformation, Scoliosis, As... ORPHA:1556
Distal Triplication 15Q
Retrognathia, Abnormal sternum morphology, Kyphosis, Abnormal heart morphology, Intrauterine grow... ORPHA:314588
Blepharophimosis-Intellectual Disability Syndrome, Sbbys Type
Retrognathia, Neoplasm of the tongue, Thyroid hypoplasia, Bifid uvula, Severe short stature, Join... ORPHA:3047
Pancreatic Hypoplasia-Diabetes-Congenital Heart Disease Syndrome
Congenital diaphragmatic hernia, Ureteral duplication, Biliary atresia, Pancreatic aplasia, Pulmo... ORPHA:2255
Neurooculorenal Syndrome
Highly arched eyebrow, Intestinal malrotation, Decreased circulating cortisol level, Mitral valve... OMIM:620305
Kallmann Syndrome-Heart Disease Syndrome
Delayed puberty, Delayed skeletal maturation, Heart murmur, Pulmonary insufficiency, Aortic regur... ORPHA:2326
Robinow Syndrome, Autosomal Recessive 1
Retrognathia, Hypoplastic sacrum, Mesomelic arm shortening, Dislocated radial head, Dental crowdi... OMIM:268310
Chromosome 3Pter-P25 Deletion Syndrome
Postnatal growth retardation, Retrognathia, Thin vermilion border, Atrioventricular canal defect,... OMIM:613792
Kyphoscoliotic Ehlers-Danlos Syndrome
Kyphoscoliosis, Pectus carinatum, Pectus excavatum, Dislocated wrist, Umbilical hernia, Bicuspid ... ORPHA:536545
Bryant-Li-Bhoj Neurodevelopmental Syndrome 1
Dilation of Virchow-Robin spaces, Everted lower lip vermilion, Low posterior hairline, Wide mouth... OMIM:619720
Coffin-Siris Syndrome 1
Congenital diaphragmatic hernia, Retrognathia, Duodenal ulcer, Ectopic kidney, Dislocated radial ... OMIM:135900
Kabuki Syndrome 1
Highly arched eyebrow, Premature thelarche, Intestinal malrotation, Recurrent aspiration pneumoni... OMIM:147920
Down Syndrome
Delayed puberty, Renal hypoplasia/aplasia, Microdontia, Delayed skeletal maturation, Sparse hair,... ORPHA:870
Chromosome 13Q33-Q34 Deletion Syndrome
Anencephaly, Pulmonic stenosis, Left ventricular hypertrophy, Penoscrotal transposition, Advanced... OMIM:619148
Multiple Pterygium Syndrome, Escobar Variant
Congenital diaphragmatic hernia, Dislocated radial head, Kyphosis, Umbilical hernia, Long philtru... OMIM:265000
Segmental Outgrowth-Lipomatosis-Arteriovenous Malformation-Epidermal Nevus Syndrome
Congestive heart failure, Neoplasm of the thyroid gland, Reduced bone mineral density, Arterioven... ORPHA:137608
Oculoectodermal Syndrome
Bladder exstrophy, Giant cell granuloma of mandible, Lymphedema, Transient ischemic attack, Hyper... OMIM:600268
Cutis Laxa, Autosomal Recessive, Type Ic
Retrognathia, Morgagni diaphragmatic hernia, Ascites, Umbilical hernia, Long philtrum, Joint hype... OMIM:613177
Structural Heart Defects And Renal Anomalies Syndrome
Tricuspid atresia, Interrupted aortic arch, Right aortic arch, Truncus arteriosus, Renal cyst, Sy... OMIM:617478
Pseudoaminopterin Syndrome
Limited elbow movement, Highly arched eyebrow, Pectus excavatum, Microdontia, Sacrococcygeal pilo... ORPHA:221120
Renpenning Syndrome
Pectus excavatum, Joint stiffness, Severe short stature, Hypospadias, Short philtrum, Cleft palat... ORPHA:3242
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4
Optic atrophy, Muscular dystrophy, Spinal rigidity, Transposition of the great arteries, Encephal... OMIM:253800
Trisomy 13
Kyphosis, Multiple renal cysts, Long philtrum, Intrauterine growth retardation, Hernia, Optic atr... ORPHA:3378
Feingold Syndrome 1
Everted lower lip vermilion, Tracheoesophageal fistula, Tricuspid atresia, Accessory spleen, Aspl... OMIM:164280
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1
Knee flexion contracture, Hydrocephalus, Kyphosis, Vascular ring, Skeletal muscle atrophy, Thorac... OMIM:603387
Ciliary Dyskinesia, Primary, 40
Situs inversus totalis, Atrioventricular canal defect, Patent ductus arteriosus, Right aortic arc... OMIM:618300
Microcephaly, Facial Dysmorphism, Renal Agenesis, And Ambiguous Genitalia Syndrome
Retrognathia, Atrial septal defect, Unilateral renal agenesis, Highly arched eyebrow, High palate... OMIM:618142
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia
Aplasia/hypoplasia of the femur, Dislocated radial head, Pectus excavatum, Absent tibia, Short me... OMIM:609945
Cornelia De Lange Syndrome 3 With Or Without Midline Brain Defects
Limited elbow movement, Highly arched eyebrow, Microdontia, Pulmonic stenosis, Long philtrum, Sho... OMIM:610759
Loeys-Dietz Syndrome 2
Retrognathia, Pulmonary artery aneurysm, Arterial tortuosity, Descending thoracic aorta aneurysm,... OMIM:610168
Cardiac-Urogenital Syndrome
Congenital diaphragmatic hernia, Enlarged kidney, Mesocardia, Coronary sinus enlargement, Intesti... OMIM:618280
Sandestig-Stefanova Syndrome
Retrognathia, Perimembranous ventricular septal defect, Muscular ventricular septal defect, Orofa... OMIM:618804
Fryns Syndrome
Ureteral duplication, Meckel diverticulum, Intestinal malrotation, Wide mouth, Thoracic hypoplasi... OMIM:229850
Ehlers-Danlos Syndrome, Classic-Like, 2
Cervical C2/C3 vertebral fusion, Facet joint arthrosis, Low posterior hairline, Bruising suscepti... OMIM:618000
Trisomy 18
Congenital diaphragmatic hernia, Anencephaly, Delayed skeletal maturation, Intrauterine growth re... ORPHA:3380
Microphthalmia, Syndromic 12
Congenital diaphragmatic hernia, Retrognathia, Hypoplastic left atrium, Cryptorchidism, Intestina... OMIM:615524
Microgastria-Limb Reduction Defect Syndrome
Renal hypoplasia/aplasia, Amelia, Tracheoesophageal fistula, Intestinal malrotation, Aplastic cla... ORPHA:2538
Aortic Aneurysm, Familial Thoracic 12
Aortic regurgitation, Aortic root aneurysm, Arthritis, Ascending tubular aorta aneurysm, Scoliosi... OMIM:619825
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion
Dental crowding, Pulmonic stenosis, Aortic valve stenosis, Intestinal malrotation, Abnormal heart... ORPHA:353281
Chromosome 1P36 Deletion Syndrome, Proximal
Atrial septal defect, Wolff-Parkinson-White syndrome, Patent ductus arteriosus, Broad eyebrow, Co... OMIM:619343
Arnold-Chiari Malformation Type I
Abnormality of the vestibulocochlear nerve, Abnormality of the twelfth cranial nerve, Stiff neck,... ORPHA:268882
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome
Kyphoscoliosis, Broad lateral eyebrow, Optic nerve hypoplasia, Abnormal heart morphology, Bifid u... ORPHA:500150
Carpenter Syndrome 1
Pulmonic stenosis, Umbilical hernia, Genu varum, Optic atrophy, Transposition of the great arteri... OMIM:201000
Jacobsen Syndrome
Pectus excavatum, Intrauterine growth retardation, Optic atrophy, Hypospadias, Hydrocephalus, Hol... OMIM:147791
Cornelia De Lange Syndrome 4 With Or Without Midline Brain Defects
Highly arched eyebrow, Pectus carinatum, Intestinal malrotation, Enamel agenesis, Long philtrum, ... OMIM:614701
Heterotaxy, Visceral, 6, Autosomal
Situs inversus totalis, Transposition of the great arteries, Dextrocardia, Right aortic arch, Tot... OMIM:614779
Digeorge Syndrome
Right aortic arch with mirror image branching, Recurrent sinusitis, Bifid uvula, Ovarian cyst, Ab... OMIM:188400
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome
Optic atrophy, Arteriovenous malformation, Hydrocephalus, Cerebral ischemia, Wide mouth, Telangie... ORPHA:60040
15Q11.2 Microdeletion Syndrome
Abnormal palate morphology, Total anomalous pulmonary venous return, Dilated fourth ventricle, Co... ORPHA:261183
Cerebrocostomandibular Syndrome
Anomalous rib insertion to vertebrae, Ectopic kidney, Glossoptosis, Short humerus, Thoracic hypop... OMIM:117650
Gm1-Gangliosidosis, Type I
Kyphosis, Joint stiffness, Hypoplastic vertebral bodies, Severe short stature, Splenomegaly, Intr... OMIM:230500
Ring Chromosome 21 Syndrome
Diabetes insipidus, Scoliosis, Short stature, Abnormal heart morphology, Holoprosencephaly, Thora... ORPHA:1445
Pagod Syndrome
Congenital diaphragmatic hernia, Renal hypoplasia/aplasia, Abnormal clavicle morphology, Optic at... ORPHA:991
Vertebral, Cardiac, Tracheoesophageal, Renal, And Limb Defects
Retrognathia, Butterfly vertebrae, Muscular ventricular septal defect, Fused cervical vertebrae, ... OMIM:619227
Acrofacial Dysostosis 1, Nager Type
Congenital diaphragmatic hernia, Retrognathia, Temporomandibular joint ankylosis, Wide mouth, Abs... OMIM:154400
Chromosome 15Q25 Deletion Syndrome
Congenital diaphragmatic hernia, Thin vermilion border, Dextrocardia, Inguinal hernia, Macrocytic... OMIM:614294
Megabladder, Congenital
Stage 5 chronic kidney disease, Multiple glomerular cysts, Fetal megacystis, Left ventricular non... OMIM:618719
Patent Ductus Arteriosus-Bicuspid Aortic Valve-Hand Anomalies Syndrome
Bicuspid aortic valve, Pseudocoarctation of the aorta, Short 5th metacarpal, Patent ductus arteri... ORPHA:228190
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency
Abnormal subclavian artery morphology, Highly arched eyebrow, Dental crowding, Pulmonic stenosis,... ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations
Abnormal subclavian artery morphology, Highly arched eyebrow, Dental crowding, Pulmonic stenosis,... ORPHA:353277
Okamoto Syndrome
Urinary incontinence, Aortic valve stenosis, Abnormal mitral valve morphology, Intestinal malrota... ORPHA:2729
Loeys-Dietz Syndrome 3
Retrognathia, Arterial tortuosity, Spondylolisthesis, Abnormal sternum morphology, Pectus carinat... OMIM:613795
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked
Kyphoscoliosis, HbH hemoglobin, Kyphosis, Umbilical hernia, Perimembranous ventricular septal def... OMIM:301040
Intellectual Developmental Disorder, X-Linked, Syndromic 34
Kyphoscoliosis, Delayed puberty, Dental crowding, Kyphosis, Wide mouth, Cardiomegaly, Joint hyper... OMIM:300967
Cooper-Jabs Syndrome
Congenital diaphragmatic hernia, Reduced bone mineral density, Scoliosis, Abnormal rib morphology... ORPHA:1488
Thakker-Donnai Syndrome
Congenital diaphragmatic hernia, Transposition of the great arteries, Cervical C2/C3 vertebral fu... ORPHA:1780
Patent Ductus Arteriosus And Bicuspid Aortic Valve With Hand Anomalies
Short finger, Pseudocoarctation of the aorta, Short toe, Patent ductus arteriosus, Bicuspid aorti... OMIM:604381
Isotretinoin-Like Syndrome
Postnatal growth retardation, Abnormal aortic arch morphology, Gastroesophageal reflux, Inguinal ... ORPHA:2306
Mirage Syndrome
Leukopenia, Lymphopenia, Intrauterine growth retardation, Adrenal insufficiency, Hypospadias, Pet... OMIM:617053
Distal Deletion 12Q
Kyphoscoliosis, Ectopic kidney, Biliary atresia, Pituitary adenoma, Long philtrum, Fine hair, Pol... ORPHA:96149
Global Developmental Delay-Alopecia-Macrocephaly-Facial Dysmorphism-Structural Brain Anomalies Syndrome
Dysplastic corpus callosum, Retrognathia, Sacral dimple, Dilation of Virchow-Robin spaces, Polyhy... ORPHA:544488
Proteus Syndrome
Bronchogenic cyst, Enlarged kidney, Arteriovenous malformation, Asymmetry of the thorax, Abnormal... ORPHA:744
Simpson-Golabi-Behmel Syndrome
Congenital diaphragmatic hernia, Ureteral duplication, Prolonged QT interval, Hypoplasia of penis... ORPHA:373
Congenital Hypotonia, Epilepsy, Developmental Delay, And Digital Anomalies
Abnormal heart morphology, Dysphagia, Long philtrum, Joint hypermobility, Oligohydramnios, Patent... OMIM:618494
Viss Syndrome
Retrognathia, Pulmonary artery aneurysm, Iliac artery aneurysm, Arterial tortuosity, Recurrent jo... OMIM:619472
Congenital Heart Defects, Multiple Types, 2
Myxomatous mitral valve degeneration, Congestive heart failure, Aortic regurgitation, Aortic aneu... OMIM:614980
Rabson-Mendenhall Syndrome
Premature graying of hair, Dental crowding, Cardiomyopathy, Delayed skeletal maturation, Nephroca... ORPHA:769
Developmental And Epileptic Encephalopathy 85 With Or Without Midline Brain Defects
Congenital diaphragmatic hernia, Retrognathia, Solitary median maxillary central incisor, Highly ... OMIM:301044
Chromosome 22Q11.2 Deletion Syndrome, Distal
Highly arched eyebrow, Truncus arteriosus, Short stature, Cleft palate, Malar flattening, Smooth ... OMIM:611867
Tonne-Kalscheuer Syndrome
Congenital diaphragmatic hernia, Widely spaced teeth, Hypospadias, Narrow mouth, Decreased testic... OMIM:300978
Thrombocytopenia-Absent Radius Syndrome
Ureteral duplication, Meckel diverticulum, Prolonged bleeding following circumcision, Bilateral r... OMIM:274000
45,X/46,Xy Mixed Gonadal Dysgenesis
Delayed puberty, Prolonged QT interval, Pectus excavatum, Low posterior hairline, Delayed skeleta... ORPHA:1772
Al Amyloidosis
Gastrointestinal hemorrhage, Abnormal autonomic nervous system physiology, Abnormal heart morphol... ORPHA:85443
Ellis-Van Creveld Syndrome
Epispadias, Neonatal short-limb short stature, Genu valgum, Hypospadias, Narrow chest, Delayed er... OMIM:225500
Lessel-Kreienkamp Syndrome
Atrial septal defect, Gastroesophageal reflux, Patent foramen ovale, Pulmonic stenosis, Wide cran... OMIM:619149
Congenital Heart Defects, Multiple Types, 6
Transposition of the great arteries, Hypoplastic pulmonary veins, Left ventricular outflow tract ... OMIM:613854
Chilton-Okur-Chung Neurodevelopmental Syndrome
Asymmetry of the thorax, Highly arched eyebrow, Pectus excavatum, Septo-optic dysplasia, Wide mou... OMIM:619841
Xp22.13P22.2 Duplication Syndrome
Congenital diaphragmatic hernia, High anterior hairline, Small hand, Mandibular prognathia, Scoli... ORPHA:284180
Septopreoptic Holoprosencephaly
Central diabetes insipidus, Abnormal vertebral morphology, Anterior hypopituitarism, Ethmoidal en... ORPHA:280195
Hydrocephaly-Low Insertion Umbilicus Syndrome
Communicating hydrocephalus, Hernia of the abdominal wall, Tetralogy of Fallot, Patent ductus art... ORPHA:2184
17Q24.2 Microdeletion Syndrome
Abnormality of the wrist, Cubitus valgus, Prolonged QT interval, Short philtrum, Tooth malpositio... ORPHA:529962
Microcephaly, Congenital Heart Disease, Unilateral Renal Agenesis, And Hyposegmented Lungs
Unilateral renal agenesis, Hydranencephaly, Truncus arteriosus, Cleft palate, Short distal phalan... OMIM:601355
Trichorhinophalangeal Syndrome, Type Ii
Pectus excavatum, Short metacarpal, Sparse hair, Bicuspid aortic valve, Joint hypermobility, Cere... OMIM:150230
Yuan-Harel-Lupski Syndrome
Talipes valgus, Long philtrum, Decreased nerve conduction velocity, Aortic root aneurysm, High pa... OMIM:616652
Microcephaly-Facial Dysmorphism-Ocular Anomalies-Multiple Congenital Anomalies Syndrome
Abnormality of the kidney, Short philtrum, Mandibular prognathia, Thyroid hypoplasia, Nephrolithi... ORPHA:521445
Gillessen-Kaesbach-Nishimura Syndrome
Abnormal lung lobation, Retrognathia, Congenital diaphragmatic hernia, Polyhydramnios, Periportal... OMIM:263210
Noonan Syndrome 12
Decreased response to growth hormone stimulation test, Polyhydramnios, 11 pairs of ribs, Pectus e... OMIM:618624
Renal-Hepatic-Pancreatic Dysplasia 2
Abnormal lung lobation, Situs inversus totalis, Stillbirth, Hepatomegaly, Enlarged kidney, Truncu... OMIM:615415
Fallot Complex-Intellectual Disability-Growth Delay Syndrome
High palate, Persistent left superior vena cava, Pulmonic stenosis, Frontal hirsutism, Micrognath... ORPHA:3304
Blue Rubber Bleb Nevus
Gastrointestinal infarctions, Arteriovenous malformation, Bone pain, Volvulus, Intestinal bleedin... ORPHA:1059
Monosomy 18P
Kyphoscoliosis, Short philtrum, Tooth malposition, Enlarged thorax, Hypertension, Pectus excavatu... ORPHA:1598
Poland Syndrome
Unilateral hypoplasia of pectoralis major muscle, Hypoplasia of latissimus dorsi muscle, Hypoplas... OMIM:173800
Wolf-Hirschhorn Syndrome
Abnormal form of the vertebral bodies, Highly arched eyebrow, Kyphosis, Low posterior hairline, D... OMIM:194190
Fanconi Anemia, Complementation Group R
Anemia, Hydrocephalus, Pelvic kidney, Scoliosis, Anal atresia, Growth delay, Bone marrow hypocell... OMIM:617244
Fanconi Anemia, Complementation Group N
Aplastic anemia, Hypoplasia of the radius, Postnatal growth retardation, Acute myeloid leukemia, ... OMIM:610832
Atrioventricular Septal Defect, Susceptibility To, 2
Right aortic arch with mirror image branching, Atrioventricular canal defect, Pulmonary artery at... OMIM:606217
Lethal Intrauterine Growth Restriction-Cortical Malformation-Congenital Contractures Syndrome
Renal hypoplasia/aplasia, Hydranencephaly, Enlarged thorax, Limitation of joint mobility, Camptod... ORPHA:2570
Adams-Oliver Syndrome 6
Esophageal varix, Truncus arteriosus, Portal hypertension, Tricuspid regurgitation, Renal hypopla... OMIM:616589
Sifrim-Hitz-Weiss Syndrome
Fused cervical vertebrae, Renal insufficiency, Ventriculomegaly, Short clavicles, Vesicoureteral ... OMIM:617159
Intellectual Developmental Disorder, X-Linked 99, Syndromic, Female-Restricted
Bifid uvula, Long philtrum, Ventriculomegaly, Joint hypermobility, Hip dislocation, Sacral dimple... OMIM:300968
Mullegama-Klein-Martinez Syndrome
Congenital diaphragmatic hernia, High anterior hairline, Short philtrum, Curly eyelashes, Scolios... OMIM:301022
Distal Duplication 15Q
Congenital muscular torticollis, High palate, Pectus excavatum, Anal atresia, Omphalocele, Joint ... ORPHA:1707
Frontometaphyseal Dysplasia 2
Delayed puberty, Dislocated radial head, Pectus excavatum, Short metacarpal, Pulmonic stenosis, B... OMIM:617137
Distal 22Q11.2 Microduplication Syndrome
Palpebral edema, Low posterior hairline, Long philtrum, Sacral dimple, Short philtrum, Hydrocepha... ORPHA:261337
Oculogastrointestinal Neurodevelopmental Syndrome
Sacral dimple, Coloboma, Hemivertebrae, Hirsutism, Anal atresia, Short stature, Bicuspid aortic v... OMIM:619318
Czeizel-Losonci Syndrome
Dextrocardia, Spina bifida occulta, Congenital megaureter, Hydrocephalus, Hypoplastic nipples, Hi... ORPHA:2437
49,Xxxxy Syndrome
Renal hypoplasia/aplasia, Hypoplasia of penis, Hypogonadism, Joint hypermobility, Hip dislocation... ORPHA:96264
Syndromic Diarrhea
Abnormal heart morphology, Splenomegaly, Lymphopenia, Bicuspid aortic valve, Intrauterine growth ... ORPHA:84064
Extracranial Carotid Artery Aneurysm
Arteriosclerosis, Arteritis, Abnormality of connective tissue, Vasculitis, Stroke, Hypertension, ... ORPHA:494424
Loeys-Dietz Syndrome 1
Retrognathia, Pulmonary artery aneurysm, Arterial tortuosity, Descending thoracic aorta aneurysm,... OMIM:609192
Craniofrontonasal Dysplasia
Abnormal clavicle morphology, Orofacial cleft, Congenital diaphragmatic hernia, Hypospadias, Scol... ORPHA:1520
Halperin-Birk Syndrome
Optic atrophy, Congenital diaphragmatic hernia, Perimembranous ventricular septal defect, Semilob... OMIM:618651
Atrial Septal Defect, Sinus Venosus Type
Left-to-right shunt, Right ventricular dilatation, Supraventricular arrhythmia, Pulmonary arteria... ORPHA:99105
Foix-Alajouanine Syndrome
Distal lower limb muscle weakness, Cervical myelopathy, Urinary incontinence, Venous malformation... ORPHA:79093
Jansen-De Vries Syndrome
Gastroesophageal reflux, Central diaphragmatic hernia, Hyperlordosis, Short foot, Short stature, ... OMIM:617450
Superficial Siderosis
Abnormality of the vestibulocochlear nerve, Abnormal bleeding, Arteriovenous malformation, Enlarg... ORPHA:247245
Vascular Ehlers-Danlos Syndrome
Pulmonary artery aneurysm, Arteriovenous fistulas of celiac and mesenteric vessels, Arteriovenous... ORPHA:286
Currarino Syndrome
Aplasia/Hypoplasia of the sacrum, Arteriovenous malformation, Hypospadias, Hypoplasia of penis, A... ORPHA:1552
Velocardiofacial Syndrome
Retrognathia, Right aortic arch with mirror image branching, Hypoparathyroidism, Inguinal hernia,... OMIM:192430
Jacobsen Syndrome
Abnormal form of the vertebral bodies, Aortic valve stenosis, Intestinal malrotation, Bone marrow... ORPHA:2308
Pericardial And Diaphragmatic Defect
Congenital diaphragmatic hernia, Meckel diverticulum, Abnormal sternum morphology, Abnormal gastr... ORPHA:2847
Neurodevelopmental Disorder With Hypotonia And Brain Abnormalities
Dilation of Virchow-Robin spaces, Hypoplastic coccygeal vertebrae, Dislocated radial head, Long p... OMIM:619512
Dural Sinus Malformation
Cerebellar hemorrhage, Vascular dilatation, Abnormal facial vein morphology, Arteriovenous fistul... ORPHA:97339
Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities
Urinary incontinence, Dysphagia, Joint hypermobility, Short 5th finger, Intrauterine growth retar... OMIM:619522
Ciliary Dyskinesia, Primary, 37
Situs inversus totalis, Dextrocardia, Right aortic arch, Hypothyroidism, Bronchiectasis, Goiter OMIM:617577
Fetal Encasement Syndrome
Congenital diaphragmatic hernia, Increased urinary 8-oxo-7,8-dihydroguanosine level, Upper limb u... OMIM:613630
Rapidly Involuting Congenital Hemangioma
Lipoatrophy, Congestive heart failure, Hepatic hemangioma, Avascular necrosis, Peripheral arterio... ORPHA:141184
Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts
Hepatomegaly, Cystic renal dysplasia, Ectopic kidney, Cryptorchidism, Neonatal death, Ventriculom... OMIM:613730
Isolated Thyroid-Stimulating Hormone Deficiency
Facial edema, Decreased thyroid-stimulating hormone level, Bradycardia, Pituitary hypothyroidism,... ORPHA:90674
Tetraamelia-Multiple Malformations Syndrome
Optic atrophy, Orofacial cleft, Abnormal lung lobation, Polyhydramnios, Hydrocephalus, Narrow mou... ORPHA:3301
Oeis Complex
Myelomeningocele, Intestinal malrotation, Absence of the sacrum, Hydrocephalus, Pelvic kidney, He... OMIM:258040
Bryant-Li-Bhoj Neurodevelopmental Syndrome 2
Long philtrum, Genu valgum, Gastroesophageal reflux, Mandibular prognathia, Scoliosis, Prominent ... OMIM:619721
Truncus Arteriosus
Adrenocortical abnormality, Pulmonic stenosis, Abnormal heart morphology, Cardiomegaly, Intrauter... ORPHA:3384
Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb
Highly arched eyebrow, Pectus excavatum, Microdontia, Bifid uvula, Long philtrum, Bicuspid aortic... OMIM:612474
Autosomal Dominant Spondylocostal Dysostosis
Spina bifida occulta, Short thorax, Scoliosis, Hyperlordosis, Vertebral segmentation defect, Abno... ORPHA:1797
Capillary Malformation-Arteriovenous Malformation
Congestive heart failure, Abnormal bleeding, Abnormality of the musculature of the limbs, Arterio... ORPHA:137667
Caudal Regression Syndrome
Orofacial cleft, Aplasia/Hypoplasia of the sacrum, Ureteral duplication, Maternal diabetes, Ectop... ORPHA:3027
Cenani-Lenz Syndactyly Syndrome
Hypoplasia of the ulna, Hypoplasia of the radius, Ectopic kidney, Metacarpal synostosis, Scoliosi... OMIM:212780
Opitz-Kaveggia Syndrome
Dental crowding, Intestinal malrotation, Abnormal heart morphology, Wide mouth, Sparse hair, Umbi... OMIM:305450
Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome
Long philtrum, Congenital muscular torticollis, Wide anterior fontanel, Patent foramen ovale, Sco... ORPHA:457279
Marfan Syndrome
Kyphoscoliosis, Retrognathia, Spondylolisthesis, Dental crowding, Pectus carinatum, Pectus excava... OMIM:154700
Catel-Manzke Syndrome
Highly arched eyebrow, Scoliosis, Glossoptosis, Pectus excavatum, Oral synechia, Joint stiffness,... ORPHA:1388
Fibrochondrogenesis 1
Short ribs, Thoracic hypoplasia, Long philtrum, Posterior rib cupping, Long clavicles, Fibular hy... OMIM:228520
Congenital Disorder Of Glycosylation, Type Iie
Retrognathia, Splenomegaly, Intrauterine growth retardation, Perimembranous ventricular septal de... OMIM:608779
Mosaic Trisomy 16
Meckel diverticulum, Abnormal heart morphology, Wide mouth, Craniofacial asymmetry, Intrauterine ... ORPHA:1708
Fixed Subaortic Stenosis
Pulmonic stenosis, Abnormal heart morphology, Diastolic heart murmur, Cardiomegaly, Left ventricu... ORPHA:3092
Monosomy 13Q34
Osteochondrosis, Prolonged prothrombin time, Pulmonic stenosis, Common atrium, Micrognathia, Grow... ORPHA:96168
Phaver Syndrome
Butterfly vertebrae, Hypoplastic aortic arch, Abnormal form of the vertebral bodies, Pterygium, P... ORPHA:2876
22Q11.2 Duplication Syndrome
Transposition of the great arteries, Interrupted aortic arch, Scoliosis, Growth delay, Micrognath... ORPHA:1727
Intellectual Disability-Seizures-Macrocephaly-Obesity Syndrome
High, narrow palate, Thick lower lip vermilion, Wolff-Parkinson-White syndrome, Delayed eruption ... ORPHA:369950
Alagille Syndrome
Delayed puberty, Renal hypoplasia/aplasia, Abnormal form of the vertebral bodies, Hypertension, C... ORPHA:52
Holt-Oram Syndrome
Abnormal coronary artery origin, Aplasia of the pectoralis major muscle, Cervical C2/C3 vertebral... OMIM:142900
Feingold Syndrome Type 1
Abnormal heart morphology, Abnormality of the kidney, Tricuspid atresia, Multiple muscular ventri... ORPHA:391641
Mitochondrial Complex I Deficiency, Nuclear Type 39
Dysplastic corpus callosum, Perimembranous ventricular septal defect, Anemia, Hypospadias, Hypert... OMIM:620135
Genitopalatocardiac Syndrome
Congenital diaphragmatic hernia, Abnormality of the gallbladder, Hypospadias, Hydrocephalus, Non-... ORPHA:2075
Cardiofacioneurodevelopmental Syndrome
Atrioventricular canal defect, Kyphosis, Cryptorchidism, Pulmonic stenosis, Camptodactyly, Microg... OMIM:619123
Hyperphosphatasia With Impaired Intellectual Development Syndrome 2
Aganglionic megacolon, Anal stenosis, Ventriculomegaly, Vesicoureteral reflux, Anal atresia, Grow... OMIM:614749
Orofaciodigital Syndrome Type 5
Supernumerary tooth, High, narrow palate, Aganglionic megacolon, Absent cupid's bow, Agenesis of ... ORPHA:2919
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14
Kyphoscoliosis, Retrognathia, Abnormal aortic arch morphology, Short ribs, Pectus excavatum, Thor... ORPHA:96334
Oligomeganephronia
Congenital diaphragmatic hernia, Abnormal nephron morphology, Decreased glomerular filtration rat... ORPHA:2260
Myhre Syndrome
Hypertension, Aortic valve stenosis, Joint stiffness, Generalized muscle hypertrophy, Sparse hair... OMIM:139210
Gm1 Gangliosidosis Type 1
Increased urinary galactosylated oligosaccharide, Beaking of vertebral bodies T12-L3, Acetabular ... ORPHA:79255
Gm1-Gangliosidosis, Type Ii
Beaking of vertebral bodies, Optic atrophy, Sea-blue histiocytosis, Platyspondyly, Hepatomegaly, ... OMIM:230600
Greenberg Dysplasia
Retrognathia, Disproportionate short-limb short stature, Short ribs, Decreased skull ossification... OMIM:215140
Absence Of The Pulmonary Artery
Abnormal inferior vena cava morphology, Abnormal heart morphology, Cardiomegaly, Abnormal cardiac... ORPHA:980
Desmosterolosis
Rhizomelia, Gingival fibromatosis, Hydrocephalus, Total anomalous pulmonary venous return, Microg... OMIM:602398
Gm1-Gangliosidosis, Type Iii
Anterior beaking of lumbar vertebrae, Hepatomegaly, Foam cells, Hypoplastic acetabulae, Scoliosis... OMIM:230650
Acrofacial Dysostosis, Cincinnati Type
Retrognathia, Pulmonary artery aneurysm, Cleft anterior mitral valve leaflet, Tracheobronchomalac... OMIM:616462
Sneddon Syndrome
Ischemic stroke, Stroke, Hypertension, Facial palsy, Atrophic scars, Cerebral hemorrhage, Lymphop... OMIM:182410
Congenital Heart Defects, Multiple Types, 9
Left axis deviation, Arteria lusoria, Transposition of the great arteries, Truncus arteriosus, Pu... OMIM:620294
Cataract-Intellectual Disability-Anal Atresia-Urinary Defects Syndrome
Abnormal palate morphology, Genu valgum, Hypospadias, Hypoplasia of penis, Anal atresia, Tetralog... ORPHA:1381
Larsen Syndrome
Spondylolysis, Multiple carpal ossification centers, Pectus carinatum, Pectus excavatum, Short me... OMIM:150250
Aymé-Gripp Syndrome
Congenital diaphragmatic hernia, Pericarditis, Long philtrum, Craniosynostosis, Ventriculomegaly,... ORPHA:1272
Holoprosencephaly-Radial Heart Renal Anomalies Syndrome
Hypoplasia of the ulna, Orofacial cleft, Cyclopia, Hypoplasia of the radius, Renal hypoplasia/apl... ORPHA:3186
Non-Involuting Congenital Hemangioma
Congestive heart failure, Hepatic hemangioma, Peripheral arteriovenous fistula, Thrombocytopenia,... ORPHA:141179
Chromosome 18Q Deletion Syndrome
Aortic valve stenosis, Bifid uvula, Umbilical hernia, Joint hypermobility, Intrauterine growth re... OMIM:601808
Brachial Amelia, Cleft Lip, And Holoprosencephaly
Anterior encephalocele, Bilateral cleft palate, Coloboma, Scoliosis, Amelia, Omphalocele, Cleft u... OMIM:601357
Seckel Syndrome 9
Congenital diaphragmatic hernia, Polyhydramnios, Recurrent respiratory infections, Recurrent urin... OMIM:616777
Distal Deletion 10P
Hypoplasia of penis, Non-midline cleft of the upper lip, Ectopic anus, Anal atresia, Joint stiffn... ORPHA:1580
De Barsy Syndrome
Kyphoscoliosis, Pectus excavatum, Delayed skeletal maturation, Sparse hair, Umbilical hernia, Int... ORPHA:2962
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy
Occipital encephalocele, Rhizomelic leg shortening, Short ribs, Abnormal optic disc morphology, R... ORPHA:397715
Congenital Tracheomalacia
Tracheobronchomalacia, Tracheoesophageal fistula, Abnormal heart morphology, Cardiomegaly, Pulmon... ORPHA:95430
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 1
Congenital diaphragmatic hernia, Ureteral duplication, Short distal phalanx of finger, Long philt... OMIM:614080
Becker Nevus Syndrome
Lipoatrophy, Spina bifida occulta, Pectus carinatum, Scoliosis, Pectus excavatum, Kyphosis, Micro... ORPHA:64755
Heart Defects-Limb Shortening Syndrome
Disproportionate short stature, Abnormal tricuspid valve morphology, Narrow chest, Abnormal form ... ORPHA:1354
Kbg Syndrome
Oligodontia, Thoracic kyphosis, Scoliosis, Synophrys, Persistent open anterior fontanelle, Delaye... ORPHA:2332
12Q14 Microdeletion Syndrome
Thin vermilion border, Osteopoikilosis, Ectopic kidney, Scoliosis, Intrauterine growth retardatio... ORPHA:94063
Craniofacial Microsomia 1
Occipital encephalocele, Ectopic kidney, Wide mouth, Hypoplasia of facial musculature, Cervical r... OMIM:164210
Baller-Gerold Syndrome
Limited elbow movement, Anomalous splenoportal venous system, Carpal bone aplasia, Optic nerve hy... OMIM:218600
Spondylocostal Dysostosis 1, Autosomal Recessive
Kyphoscoliosis, Abnormal odontoid process morphology, Hemivertebrae, Vertebral segmentation defec... OMIM:277300
Aortic Aneurysm, Familial Thoracic 4
Aortic regurgitation, Coronary artery atherosclerosis, Ascending tubular aorta aneurysm, Stroke, ... OMIM:132900
Hypothyroidism Due To Tsh Receptor Mutations
Elevated circulating thyroid-stimulating hormone concentration, Impaired sensitivity to thyroid s... ORPHA:90673
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly
Short ribs, Flat acetabular roof, Hypoplastic facial bones, Fibular hypoplasia, Rhizomelia, Encep... OMIM:616300
Hypertelorism, Microtia, Facial Clefting Syndrome
Abnormal vertebral morphology, Ectopic kidney, Abnormality of the vertebral column, Narrow mouth,... OMIM:239800
Acro-Renal-Mandibular Syndrome
Congenital diaphragmatic hernia, Renal hypoplasia/aplasia, Pectus carinatum, Tracheoesophageal fi... ORPHA:958
Tetrasomy 15Q26
Kyphoscoliosis, Hypoplastic aortic arch, Hydrocephalus, Dandy-Walker malformation, High palate, C... OMIM:614846
Leg, Absence Deformity Of, With Congenital Cataract
Optic nerve dysplasia, Scoliosis, Anal atresia OMIM:246000
Birk-Aharoni Syndrome
Muscular ventricular septal defect, Macrocytic anemia, Duplicated collecting system, Micrognathia... OMIM:620071
Noonan Syndrome-Like Disorder With Loose Anagen Hair 2
Highly arched eyebrow, Pectus carinatum, Optic nerve hypoplasia, Pectus excavatum, Low posterior ... OMIM:617506
Holoprosencephaly 13, X-Linked
Solitary median maxillary central incisor, Optic nerve hypoplasia, Septo-optic dysplasia, Colpoce... OMIM:301043
Vater/Vacterl Association
Occipital encephalocele, Ectopic kidney, Abnormal sternum morphology, Tracheoesophageal fistula, ... OMIM:192350
Weiss-Kruszka Syndrome
Highly arched eyebrow, Exaggerated cupid's bow, Prominent metopic ridge, Dextrotransposition of t... OMIM:618619
Marshall-Smith Syndrome
Short mandibular rami, Retrognathia, Kyphoscoliosis, Highly arched eyebrow, Optic nerve hypoplasi... OMIM:602535
Spondylocostal Dysostosis 3, Autosomal Recessive
Supernumerary vertebral ossification centers, Scoliosis, Vertebral segmentation defect, Kyphosis,... OMIM:609813
Peroxisome Biogenesis Disorder 12A (Zellweger)
Cholelithiasis, Hydrocephalus, Wide anterior fontanel, Short stature, Growth delay, Abnormality o... OMIM:614886
Donnai-Barrow Syndrome
Congenital diaphragmatic hernia, Wide anterior fontanel, Omphalocele, Intestinal malrotation, Pro... ORPHA:2143
Familial Papillary Or Follicular Thyroid Carcinoma
Abnormal neck blood vessel morphology, Abnormal lymph node morphology, Bone pain, Papillary thyro... ORPHA:319487
Microphthalmia, Syndromic 2
Pulmonic stenosis, Aortic valve stenosis, Bifid uvula, Mitral valve prolapse, Umbilical hernia, L... OMIM:300166
Giant Cell Arteritis
Cerebral ischemia, Joint stiffness, Pericarditis, Epistaxis, Optic atrophy, Diabetes insipidus, V... ORPHA:397
Orofaciodigital Syndrome Xiv
Occipital encephalocele, Short ribs, Aplasia of the epiglottis, Dandy-Walker malformation, Cleft ... OMIM:615948
Short-Rib Thoracic Dysplasia 20 With Polydactyly
Short ribs, Low posterior hairline, Esophageal diverticulum, Fibular hypoplasia, Cleft palate, Lo... OMIM:617925
Linear Skin Defects With Multiple Congenital Anomalies 1
Congenital diaphragmatic hernia, Hypospadias, Hydrocephalus, Histiocytoid cardiomyopathy, Anal at... OMIM:309801
Aortic Arch Anomaly With Peculiar Facies And Mental Retardation
Right aortic arch with mirror image branching OMIM:107500
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome
Retrognathia, Abnormality of the endocrine system, Pulmonic stenosis, Abnormal heart morphology, ... ORPHA:438213
Hypermobile Ehlers-Danlos Syndrome
Anorectal anomaly, Dental crowding, Abnormal autonomic nervous system physiology, Microdontia, Ar... ORPHA:285
Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Impaired Intellectual Development, And Ear Anomalies Syndrome
Highly arched eyebrow, Everted lower lip vermilion, Pectus excavatum, Wide mouth, Sparse hair, Um... OMIM:280000
Flna-Related X-Linked Myxomatous Valvular Dysplasia
Narrow palate, Long philtrum, Pulmonary insufficiency, Thick lower lip vermilion, Aortic regurgit... ORPHA:555877
Intellectual Disability-Seizures-Abnormal Gait-Facial Dysmorphism Syndrome
Everted upper lip vermilion, Absent cupid's bow, Widely spaced teeth, Gastroesophageal reflux, Tr... ORPHA:513456
Benign Schwannoma
Abnormality of the twelfth cranial nerve, Abnormality of the adrenal glands, Intestinal polyposis... ORPHA:252164
Cat-Eye Syndrome
Renal hypoplasia/aplasia, Abnormal rib morphology, Anal atresia, Short stature, Hydronephrosis, C... ORPHA:195
Diastrophic Dysplasia
Abnormal clavicle morphology, Short finger, Neonatal short-limb short stature, Joint dislocation,... ORPHA:628
Lissencephaly Syndrome, Norman-Roberts Type
Patent foramen ovale, Hypoplastic spleen, Dysphagia, Agenesis of corpus callosum, Microretrognath... ORPHA:89844
Thanatophoric Dysplasia
Abnormality of the kidney, Polyhydramnios, Platyspondyly, Narrow chest, Disproportionate short-li... ORPHA:2655
Meckel Syndrome
Ureteral duplication, Anencephaly, Pancreatic fibrosis, Oligohydramnios, Optic atrophy, Encephalo... ORPHA:564
Heterotaxy, Visceral, 12, Autosomal
Pulmonic stenosis, Discordant atrioventricular connection, Patent foramen ovale, Common atrium, P... OMIM:619702
Arachnoid Cyst
Urinary incontinence, Encephalocele, Abnormality of the endocrine system, Hydrocephalus, Sciatica... ORPHA:2356
Shprintzen-Goldberg Craniosynostosis Syndrome
Dislocated radial head, Pectus carinatum, Pectus excavatum, Mitral valve prolapse, Umbilical hern... OMIM:182212
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome
Kyphoscoliosis, Multiple joint dislocation, Repeated pneumothoraces, Pectus carinatum, Pectus exc... ORPHA:536467
Chromosome 3Q13.31 Deletion Syndrome
Short philtrum, Alobar holoprosencephaly, High palate, Kyphosis, Decreased testicular size, Agene... OMIM:615433
X Small Rings
Long philtrum, Reduced bone mineral density, Aortic root aneurysm, Upper limb undergrowth, Osteop... ORPHA:96201
Stormorken Syndrome
Abnormal bleeding, Anemia, Hematuria, Short philtrum, Howell-Jolly bodies, Asplenia, Short statur... OMIM:185070
Aortic Aneurysm, Familial Thoracic 10
Fusiform ascending tubular aorta aneurysm, Coronary artery atherosclerosis, Aortic root aneurysm,... OMIM:617168
Aarskog-Scott Syndrome
Everted lower lip vermilion, Pectus excavatum, Umbilical hernia, Long philtrum, Joint hypermobili... ORPHA:915
Complete Atrioventricular Septal Defect
Third heart sound, Left-to-right shunt, Cardiomegaly, Pulmonary venous hypertension, Abnormal car... ORPHA:1329
Wrinkly Skin Syndrome
Pectus excavatum, Microdontia, Kyphosis, Sparse hair, Umbilical hernia, Joint hypermobility, Long... OMIM:278250
Congenital Heart Defects, Multiple Types, 5
Atrial fibrillation, Aortic valve stenosis, Tetralogy of Fallot, Bicuspid aortic valve, Atrial se... OMIM:617912
Mucopolysaccharidosis, Type Ivb
Cervical myelopathy, Hyperlordosis, Kyphosis, Aortic valve stenosis, Joint stiffness, Wide mouth,... OMIM:253010
Developmental Delay, Impaired Speech, And Behavioral Abnormalities
Delayed puberty, Palpebral edema, Kyphosis, Broad philtrum, Heart murmur, Joint hypermobility, Bi... OMIM:619475
Igg4-Related Kidney Disease
Enlarged kidney, Sclerosing cholangitis, Pericarditis, Cholecystitis, Urinary bladder inflammatio... ORPHA:449395
Familial Papillary Thyroid Carcinoma With Renal Papillary Neoplasia
Abnormal neck blood vessel morphology, Renal cortical adenoma, Abnormal lymph node morphology, Pa... ORPHA:97290
Schimke Immuno-Osseous Dysplasia
Abnormal intestine morphology, Arteriosclerosis of small cerebral arteries, Hypertension, Microdo... ORPHA:1830
Intellectual Developmental Disorder, Autosomal Dominant 21
Thin vermilion border, Sacral dimple, Incisor macrodontia, Narrow mouth, Long eyelashes, Short st... OMIM:615502
Dextrocardia
Abnormal lung lobation, Situs inversus totalis, Dextrocardia, Meckel diverticulum, Abnormal renal... ORPHA:1666
Cutis Laxa, Autosomal Recessive, Type Ib
Congenital diaphragmatic hernia, Retrognathia, Pulmonary artery aneurysm, Arterial tortuosity, Br... OMIM:614437
Diamond-Blackfan Anemia 10
Congenital diaphragmatic hernia, Anemia, Ectopic kidney, Macrocytic anemia, Morgagni diaphragmati... OMIM:613309
Acrocallosal Syndrome
Everted upper lip vermilion, Pulmonary valve defects, Abnormal oral frenulum morphology, Bifid uv... OMIM:200990
Poland Syndrome
Congenital diaphragmatic hernia, Aplasia of the pectoralis major muscle, Reduced bone mineral den... ORPHA:2911
Juvenile Polyposis Syndrome
Gastrointestinal hemorrhage, Neoplasm of the pancreas, Arteriovenous malformation, Hamartomatous ... ORPHA:2929
Muscular Dystrophy-Dystroglycanopathy (Congenital With Or Without Impaired Intellectual Development), Type B, 5
Muscular dystrophy, Scoliosis, Hyperlordosis, Facial palsy, Calf muscle hypertrophy, Kyphosis, EM... OMIM:606612
Pallister-Killian Syndrome
Kyphoscoliosis, Congenital diaphragmatic hernia, Everted lower lip vermilion, Aortic valve stenos... OMIM:601803
Limb Body Wall Complex
Congenital diaphragmatic hernia, Aplasia/hypoplasia involving bones of the upper limbs, Anencepha... ORPHA:2369
Ivic Syndrome
Limited elbow movement, Intestinal malrotation, Absent thumb, Hypoplasia of the ulna, Hypoplasia ... OMIM:147750
Coffin-Siris Syndrome 7
Thick lower lip vermilion, Polyhydramnios, Short philtrum, Patent foramen ovale, Pectus excavatum... OMIM:618027
Hyperphosphatasia With Impaired Intellectual Development Syndrome 1
Aganglionic megacolon, Short philtrum, Hydrocephalus, Abnormal renal morphology, Mandibular progn... OMIM:239300
Atelosteogenesis, Type I
Disproportionate short-limb short stature, Short metacarpal, Short humerus, Thoracic hypoplasia, ... OMIM:108720
Congenital Gerbode Defect
Elevated right atrial pressure, Left-to-right shunt, Pulmonic stenosis, Constrictive pericarditis... ORPHA:99095
Renpenning Syndrome 1
Pectus excavatum, Sparse hair, Hypospadias, Short philtrum, Brittle hair, Scoliosis, Phimosis, Ca... OMIM:309500
Genetic Transient Congenital Hypothyroidism
Elevated circulating thyroid-stimulating hormone concentration, Thyroid hypoplasia, Umbilical her... ORPHA:226316
Cornelia De Lange Syndrome 6
Frontal upsweep of hair, Atrioventricular canal defect, Gastroesophageal reflux, Inguinal hernia,... OMIM:620568
Holoprosencephaly 5
Orofacial cleft, Central diabetes insipidus, Semilobar holoprosencephaly, Alobar holoprosencephal... OMIM:609637
Cataracts, Hearing Impairment, Nephrotic Syndrome, And Enterocolitis 1
Decreased pineal volume, Focal segmental glomerulosclerosis, Hypoplasia of the maxilla, Enterocol... OMIM:301108
Metatropic Dysplasia
Abnormal intervertebral disk morphology, Narrow chest, Abnormal form of the vertebral bodies, Hyd... ORPHA:2635
Acro-Renal-Ocular Syndrome
Renal hypoplasia/aplasia, Short humerus, Renal malrotation, Hypoplasia of the ulna, Aganglionic m... ORPHA:959
Squalene Synthase Deficiency
Retrognathia, Elevated urinary mevalonate lactone level, Hypospadias, Optic nerve hypoplasia, Elb... OMIM:618156
X-Linked Intellectual Disability, Nascimento Type
Nail dystrophy, Low posterior hairline, Wide mouth, Oligohydramnios, Neutropenia, Hypospadias, Pa... ORPHA:163956
Wyburn-Mason Syndrome
Arteriovenous malformation, Vascular dilatation, Peripheral arteriovenous fistula, Gingival bleed... ORPHA:53719
Cardiomyopathy, Familial Hypertrophic, 4
Ventricular hypertrophy, Ascites, Myofiber disarray, Cardiomegaly, Myopathy, Ventricular septal h... OMIM:115197
Spondylometaphyseal Dysplasia, Corner Fracture Type
Hyperconvex vertebral body endplates, Pectus carinatum, Scoliosis, Short stature, Ovoid vertebral... OMIM:184255
Donnai-Barrow Syndrome
Congenital diaphragmatic hernia, Wide anterior fontanel, Omphalocele, Intestinal malrotation, Sho... OMIM:222448
Tarp Syndrome
Glossoptosis, Pectus excavatum, Abnormal duodenum morphology, Intrauterine growth retardation, To... ORPHA:2886
Proteus Syndrome
Kyphoscoliosis, Venous malformation, Lipoma, Mandibular hyperostosis, Spinal canal stenosis, Lymp... OMIM:176920
Cat-Eye Syndrome (Type I)
Anal atresia, Short stature, Micrognathia, Abnormal heart morphology, Iris coloboma DECIPHER:42
Vertebral Anomalies And Variable Endocrine And T-Cell Dysfunction
Contracture of the proximal interphalangeal joint of the 4th finger, Kyphosis, T lymphocytopenia,... OMIM:618223
Ferguson-Bonni Neurodevelopmental Syndrome
Congenital diaphragmatic hernia, Patent foramen ovale, High palate, Pectus excavatum, Micrognathi... OMIM:619699
Houge-Janssens Syndrome 3
Muscular ventricular septal defect, Short philtrum, Inguinal hernia, High palate, Umbilical herni... OMIM:618354
Cenani-Lenz Syndrome
Renal hypoplasia/aplasia, Abnormal form of the vertebral bodies, Hip dislocation, Hypoplasia of t... ORPHA:3258
Perlman Syndrome
Distal ileal atresia, Congenital diaphragmatic hernia, Everted upper lip vermilion, Polyhydramnio... OMIM:267000
Focal Dermal Hypoplasia
Congenital diaphragmatic hernia, Midclavicular aplasia, Nail dystrophy, Ureteral duplication, Ani... OMIM:305600
Blau Syndrome
Polyarticular arthritis, Hypertension, Pericarditis, Splenomegaly, Stage 5 chronic kidney disease... ORPHA:90340
Townes-Brocks Syndrome
Delayed puberty, Ectopic kidney, Hypoplasia of penis, Absent toe, Urethral valve, Wide mouth, Mul... ORPHA:857
Conotruncal Heart Malformations
Transposition of the great arteries, Truncus arteriosus, Coarctation of aorta, Double outlet righ... OMIM:217095
Atrial Septal Defect 8
Atrial septal defect, Anomalous pulmonary venous return OMIM:614433
Fallot Complex With Severe Mental And Growth Retardation
Pulmonic stenosis, Double outlet right ventricle, Ventricular septal defect, Tetralogy of Fallot OMIM:601127
Hypoglossia With Situs Inversus
Situs inversus totalis, Narrow mouth, High palate, Asplenia, Micrognathia, Microglossia, Hypodont... OMIM:612776
Acrodysostosis 1 With Or Without Hormone Resistance
Decreased growth hormone responses to growth hormone-releasing hormone challenge, Disproportionat... OMIM:101800
Multicentric Carpotarsal Osteolysis Syndrome
Ankle swelling, Wrist swelling, Metacarpal osteolysis, Osteopenia, Congenital diaphragmatic herni... OMIM:166300
Dubowitz Syndrome
Pectus excavatum, Delayed skeletal maturation, Wide mouth, Joint hypermobility, Craniosynostosis,... ORPHA:235
Cardiac Valvular Dysplasia 1
Left atrial enlargement, Pulmonic stenosis, Mitral valve prolapse, Edema, Hypoplasia of right ven... OMIM:212093
Kagami-Ogata Syndrome
Kyphoscoliosis, Retrognathia, Pulmonic stenosis, Splenomegaly, Long philtrum, Long clavicles, Ing... OMIM:608149
Dilated Cardiomyopathy With Ataxia
Optic atrophy, 3-Methylglutaconic aciduria, Muscular ventricular septal defect, Prolonged QT inte... ORPHA:66634
Fetal Alcohol Syndrome
Congenital diaphragmatic hernia, Non-midline cleft of the upper lip, Vertebral segmentation defec... ORPHA:1915
Lymphedema, Cardiac Septal Defects, And Characteristic Facies
Atrial flutter, Hydrops fetalis, Lymphedema, Omphalocele, Vascular ring, Patent ductus arteriosus... OMIM:601927
Pulmonary Venoocclusive Disease 2, Autosomal Recessive
Pulmonary venous occlusion, Pulmonary capillary hemangiomatosis, Mediastinal lymphadenopathy, Pul... OMIM:234810
Frontonasal Dysplasia 1
Joint contracture of the hand, Pectoral muscle hypoplasia/aplasia, Frontal cutaneous lipoma, Colo... OMIM:136760
Joubert Syndrome 18
Kyphoscoliosis, Retrognathia, Occipital encephalocele, Intrahepatic biliary atresia, Intrauterine... OMIM:614815
Gm1 Gangliosidosis
Abnormal form of the vertebral bodies, Hyperlordosis, Cardiomyopathy, Kyphosis, Joint stiffness, ... ORPHA:354
Heterotaxy, Visceral, 11, Autosomal, With Male Infertility
Situs inversus totalis, Primum atrial septal defect, Partial atrioventricular canal defect, Polys... OMIM:619608
Fanconi Anemia, Complementation Group Q
Esophageal atresia, Biliary atresia, Primum atrial septal defect, Growth delay, Bone marrow hypoc... OMIM:615272
Chondrodysplasia, Blomstrand Type
Stillbirth, Abnormal vertebral morphology, Hydrops fetalis, Polyhydramnios, Narrow chest, Short r... OMIM:215045
Radioulnar Synostosis-Microcephaly-Scoliosis Syndrome
Pectus carinatum, Scoliosis, Abnormality of the philtrum, Abnormality of the dentition, Abnormal ... ORPHA:3268
Wiedemann-Rautenstrauch Syndrome
Kyphoscoliosis, Retrognathia, Lipoatrophy, Severe intrauterine growth retardation, Atlantoaxial a... ORPHA:3455
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 1, With Or Without Fractures
Kyphoscoliosis, Dislocated radial head, Cupped ribs, Short metacarpal, Severe short stature, Long... OMIM:271640
Mayer-Rokitansky-Küster-Hauser Syndrome Type 2
Ectopic kidney, Vertebral segmentation defect, Abnormal rib morphology, Low posterior hairline, R... ORPHA:2578
Toriello-Carey Syndrome
Cardiomyopathy, Pulmonic stenosis, Intrauterine growth retardation, Ventriculomegaly, Abnormal ca... ORPHA:3338
8p23.1 deletion syndrome
Congenital diaphragmatic hernia, Atrioventricular canal defect, Abnormal heart morphology, Atrial... DECIPHER:39
Mitochondrial Complex I Deficiency, Nuclear Type 36
Perimembranous ventricular septal defect, Recurrent lower respiratory tract infections, Limb hype... OMIM:619170
Osteogenesis Imperfecta
Intestinal obstruction, Reduced bone mineral density, Abnormal form of the vertebral bodies, Disl... ORPHA:666
Cog1-Cdg
Kyphoscoliosis, Flat acetabular roof, Long philtrum, Butterfly vertebrae, Rhizomelia, Pulmonary a... ORPHA:263508
9Q31.1Q31.3 Microdeletion Syndrome
Aortic regurgitation, Thick hair, Highly arched eyebrow, Short clavicles, Mandibular prognathia, ... ORPHA:401923
Glossopharyngeal Neuralgia
Mandibular pain, Abnormal palate morphology, Vascular dilatation, Abnormal glossopharyngeal nerve... ORPHA:221098
Cardiac Septal Defects With Coarctation Of The Aorta
Perimembranous ventricular septal defect, Secundum atrial septal defect, Coarctation of aorta OMIM:212090
Cohen Syndrome
Delayed puberty, Short metacarpal, Leukopenia, Mitral valve prolapse, Joint hypermobility, Neutro... OMIM:216550
Alg3-Cdg
Osteopenia, Abnormality of the gastrointestinal tract, Neural tube defect, Coarctation of the des... ORPHA:79321
Multiple Pterygium Syndrome, X-Linked
Hypoplastic heart, Short finger, Polyhydramnios, Multiple pterygia, Joint dislocation, Amyoplasia... OMIM:312150
Gracile Bone Dysplasia
Aniridia, Hydrocephalus, Thin ribs, Decreased skull ossification, Ankyloglossia, Asplenia, Short ... OMIM:602361
Meier-Gorlin Syndrome 7
Dislocated radial head, Joint hypermobility, Craniosynostosis, Second degree atrioventricular blo... OMIM:617063
Spondylocostal Dysostosis 2, Autosomal Recessive
Hemivertebrae, Vertebral segmentation defect, Vertebral clefting, Rib fusion, Disproportionate sh... OMIM:608681
Trisomy 20P
Reduced bone mineral density, Abnormal form of the vertebral bodies, Highly arched eyebrow, Evert... ORPHA:261318
16P13.11 Microdeletion Syndrome
Cyclopia, Gastroesophageal reflux, Exaggerated cupid's bow, Pectus excavatum, Cryptorchidism, Sho... ORPHA:261236
Doors Syndrome
Aplasia/Hypoplasia of the phalanges of the 2nd toe, Broad alveolar ridges, Adrenal hyperplasia, N... ORPHA:79500
Heterotaxy, Visceral, 2, Autosomal
Situs inversus totalis, Atrioventricular canal defect, Transposition of the great arteries, Mesoc... OMIM:605376
Coronary Arterial Fistula
Aortic valve stenosis, Abnormal heart morphology, Cardiomegaly, Bicuspid aortic valve, Right vent... ORPHA:2041
Melorheostosis
Bone pain, Arthritis, Increased bone mineral density, Peripheral arteriovenous fistula, Lymphedem... ORPHA:2485
Otopalatodigital Syndrome Type 2
Glossoptosis, Myelomeningocele, Hypoplastic frontal sinuses, Anodontia, Abnormal cardiac septum m... ORPHA:90652
Frank-Ter Haar Syndrome
Kyphoscoliosis, Broad alveolar ridges, Broad clavicles, Pectus excavatum, Kyphosis, Wide mouth, M... OMIM:249420
Prune Belly Syndrome
Aplasia of the abdominal wall musculature, Hydroureter, Pectus carinatum, Pectus excavatum, Anal ... OMIM:100100
Mucopolysaccharidosis, Type Vii
Pectus carinatum, Cardiomyopathy, Pectus excavatum, Kyphosis, Dermatan sulfate excretion in urine... OMIM:253220
Fanconi Anemia, Complementation Group O
Hypoplasia of the radius, Anal atresia, Cryptorchidism, Renal cyst, Short stature, Abnormal heart... OMIM:613390
Skeletal Dysplasia, Mild, With Joint Laxity And Advanced Bone Age
Hyperlordosis, Flat acetabular roof, Pectus excavatum, Limited knee extension, Accelerated skelet... OMIM:618870
Pulmonary Venoocclusive Disease 1, Autosomal Dominant
Elevated jugular venous pressure, Pulmonary arterial hypertension, Pulmonary venous occlusion, In... OMIM:265450
Apert Syndrome
Limited elbow movement, Pectus carinatum, Bifid uvula, Craniosynostosis, Ventriculomegaly, Narrow... OMIM:101200
Musculocontractural Ehlers-Danlos Syndrome
Kyphoscoliosis, Recurrent joint dislocation, Abnormal sternum morphology, Abnormal heart morpholo... ORPHA:2953
Long Qt Syndrome 16
Perimembranous ventricular septal defect, Bradycardia, Prolonged QTc interval, T-wave alternans, ... OMIM:618782
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type
Short ribs, Decreased skull ossification, Ascites, Multiple prenatal fractures, Unilateral cleft ... OMIM:616897
Short-Rib Thoracic Dysplasia 14 With Polydactyly
Congenital diaphragmatic hernia, Hydrops fetalis, Polyhydramnios, Anencephaly, Narrow chest, Acce... OMIM:616546
Congenital Tricuspid Valve Dysplasia
Tricuspid valve prolapse, Hepatomegaly, Abnormal tricuspid valve annulus morphology, Patent foram... ORPHA:555874
Mosaic Trisomy 14
Hypospadias, Narrow chest, Hypoplasia of penis, Ectopic anus, High palate, Abnormal rib morpholog... ORPHA:1703
Roifman-Chitayat Syndrome
Osteopenia, Optic atrophy, Short metatarsal, Ectopic kidney, Thin lower lip vermilion, Arthritis,... OMIM:613328
Neuronal Intestinal Pseudoobstruction
Congenital diaphragmatic hernia, Natal tooth, Patent ductus arteriosus, Abnormal cardiac septum m... ORPHA:99811
Methylmalonic Aciduria And Homocystinuria, Cblj Type
Methylmalonic aciduria, Bell-shaped thorax, Patent ductus arteriosus, Gastroesophageal reflux, In... OMIM:614857
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome
Retrognathia, Biliary hyperplasia, Contracture of the distal interphalangeal joint of the fingers... ORPHA:83617
Arterial Dissection-Lentiginosis Syndrome
Arteriovenous malformation, Arterial dissection ORPHA:1682
Codas Syndrome
Delayed ossification of carpal bones, Short metacarpal, Delayed skeletal maturation, Short humeru... OMIM:600373
Classical-Like Ehlers-Danlos Syndrome Type 2
Kyphoscoliosis, Pectus excavatum, Kyphosis, Long uvula, Umbilical hernia, Joint hypermobility, Mi... ORPHA:536532
Periventricular Nodular Heterotopia 1
Short finger, Stroke, Cerebral hemorrhage, Patent ductus arteriosus, Bicuspid aortic valve OMIM:300049
Diaphragmatic Hernia 4, With Cardiovascular Defects
Hepatomegaly, Polyhydramnios, 11 pairs of ribs, Aortic root aneurysm, Optic nerve hypoplasia, Aor... OMIM:620025
Mucopolysaccharidosis, Type Iiid
Broad alveolar ridges, Joint stiffness, Hypoplastic vertebral bodies, Wide mouth, Dysphagia, Sple... OMIM:252940
Aorta Coarctation
Congestive heart failure, Perimembranous ventricular septal defect, Cardiomegaly, Hypoplastic aor... ORPHA:1457
Mullerian Duct Aplasia, Unilateral Renal Agenesis, And Cervicothoracic Somite Anomalies
Unilateral renal agenesis, Ectopic kidney, Abnormality of the vertebral column, Abnormal rib morp... OMIM:601076
Developmental And Speech Delay Due To Sox5 Deficiency
Narrow palate, Butterfly vertebrae, Optic atrophy, Gastroesophageal reflux, Dental crowding, Pect... ORPHA:313892
Diastrophic Dysplasia
Kyphoscoliosis, Short finger, Neonatal short-limb short stature, Genu valgum, Disproportionate sh... OMIM:222600
Phakomatosis Pigmentovascularis
Reduced bone mineral density, Arteriovenous malformation ORPHA:2875
3P25.3 Microdeletion Syndrome
Pulmonic stenosis, Sacral dimple, Short philtrum, Coronary artery atherosclerosis, Scoliosis, Abn... ORPHA:435638
Hunter-Macdonald Syndrome
Pectus carinatum, Hypertension, Delayed skeletal maturation, Mitral valve prolapse, Umbilical her... OMIM:611962
Fanconi Anemia, Complementation Group I
Optic nerve hypoplasia, Abnormal renal morphology, Bone marrow hypocellularity, Colpocephaly, Abs... OMIM:609053
Absence Deformity Of Leg-Cataract Syndrome
Scoliosis, Hyperlordosis, Lower limb undergrowth, Anal atresia ORPHA:2310
Capillary Malformation-Arteriovenous Malformation 1
Arteriovenous fistula, Arteriovenous malformation OMIM:608354
Intellectual Developmental Disorder, X-Linked 106
Hypospadias, Synophrys, Decreased testicular size, Thick vermilion border, Open mouth, Bicuspid a... OMIM:300997
Mucopolysaccharidosis, Type Iva
Cervical myelopathy, Pectus carinatum, Hyperlordosis, Kyphosis, Wide mouth, Large elbow, Joint hy... OMIM:253000
White-Sutton Syndrome
Optic atrophy, Congenital diaphragmatic hernia, Abnormality of the gastrointestinal tract, Ventra... ORPHA:468678
46,Xx Sex Reversal With Dysgenesis Of Kidneys, Adrenals, And Lungs
Congenital diaphragmatic hernia, Bilateral lung agenesis, Hypospadias, Pulmonary artery stenosis,... OMIM:611812
Thymic-Renal-Anal-Lung Dysplasia
Abnormality of the endocrine system, Anal atresia, Renal agenesis, Ureteral agenesis, Intrauterin... OMIM:274265
Diamond-Blackfan Anemia 7
Osteopenia, Polyhydramnios, Macrocytic anemia, Increased mean corpuscular volume, Scoliosis, Vesi... OMIM:612562
Tetrasomy 9P
Abnormal number of permanent teeth, Juxtaductal coarctation of the aorta, Biliary atresia, Dental... ORPHA:3310
Spondylometaphyseal Dysplasia, 'Corner Fracture' Type
Abnormal bone ossification, Reduced bone mineral density, Biconvex vertebral bodies, Pectus carin... ORPHA:93315
Acalvaria
Abnormal lung lobation, Hydrocephalus, Omphalocele, Spina bifida, Cleft palate, Holoprosencephaly ORPHA:945
Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia
Nail dystrophy, Hypoparathyroidism, Cholelithiasis, Chronic active hepatitis, Alopecia, Female hy... OMIM:240300
Venous Malformations, Multiple Cutaneous And Mucosal
Venous malformation, Intestinal bleeding OMIM:600195
Aortic Valve Disease 3
Aortic root aneurysm, Aortic valve stenosis, Ascending aortic dissection, Bicuspid aortic valve, ... OMIM:618496
Mckusick-Kaufman Syndrome
Aganglionic megacolon, Tarsal synostosis, Renal hypoplasia/aplasia, Glandular hypospadias, Ectopi... ORPHA:2473
Shashi-Pena Syndrome
Retrognathia, Dilation of Virchow-Robin spaces, Cervical C2/C3 vertebral fusion, Limb hypertonia,... OMIM:617190
Kleefstra Syndrome Due To A Point Mutation
Abnormality of the kidney, Thick lower lip vermilion, Gastroesophageal reflux, Tracheomalacia, In... ORPHA:261652
1Q21.1 Microdeletion Syndrome
Iris coloboma, Inguinal hernia, Interrupted aortic arch, Hydrocephalus, Scoliosis, Vesicoureteral... ORPHA:250989
Immunodeficiency, Developmental Delay, And Hypohomocysteinemia
Recurrent lower respiratory tract infections, Short stature, Delayed skeletal maturation, Growth ... OMIM:617744
Recombinant 8 Syndrome
Abnormal sternum morphology, Pectus excavatum, Low posterior hairline, Abnormal oral frenulum mor... ORPHA:96167
Tarp Syndrome
Optic atrophy, Hypoplasia of the radius, Horseshoe kidney, Meckel diverticulum, Glossoptosis, Hig... OMIM:311900
Cutis Laxa, Autosomal Recessive, Type Ia
Congenital diaphragmatic hernia, Emphysema, Aortic regurgitation, Inguinal hernia, Ascending tubu... OMIM:219100
Johanson-Blizzard Syndrome
Hypoplasia of penis, Microdontia, Delayed skeletal maturation, Edema, Intrauterine growth retarda... ORPHA:2315
Phace Syndrome
Abnormal carotid artery morphology, Iris coloboma, Aortic root aneurysm, Abnormal sternum morphol... ORPHA:42775
Fanconi Anemia, Complementation Group P
Hypoplasia of the radius, Anemia, Pancytopenia, Pelvic kidney, Short stature, Growth delay, Micro... OMIM:613951
Orofaciodigital Syndrome V
Aganglionic megacolon, Horseshoe kidney, Scoliosis, High palate, Ankyloglossia, Unilateral crypto... OMIM:174300
Tatton-Brown-Rahman Syndrome
Kyphoscoliosis, Supraventricular tachycardia with an accessory connection mediated pathway, Paten... ORPHA:404443
Spondylometaphyseal Dysplasia, Axial
Optic atrophy, Rhizomelia, Narrow chest, Scoliosis, Short stature, Anterior rib cupping, Recurren... OMIM:602271
Osteogenesis Imperfecta, Type Vii
Pectus excavatum, Multiple prenatal fractures, Dentinogenesis imperfecta, Long philtrum, Rhizomel... OMIM:610682
Cerebral Arteriovenous Malformation
Peripheral arteriovenous fistula, Abnormal cerebral vascular morphology ORPHA:46724
Congenitally Corrected Transposition Of The Great Arteries
Mesocardia, Bradycardia, Pulmonic stenosis, Discordant atrioventricular connection, Abnormal hear... ORPHA:216694
Multiple Pterygium Syndrome, Lethal Type
Hypoplastic heart, Short finger, Polyhydramnios, Multiple pterygia, Joint dislocation, Amyoplasia... OMIM:253290
Mitochondrial Complex I Deficiency, Nuclear Type 16
Optic atrophy, Scoliosis, Aplasia of the left hemidiaphragm, Agenesis of corpus callosum, Intraut... OMIM:618238
Cleft-Limb-Heart Malformation Syndrome
Truncus arteriosus OMIM:215850
Steroid-Responsive Encephalopathy Associated With Autoimmune Thyroiditis
Anterior open-bite malocclusion, Abnormal autonomic nervous system physiology, Leukocytosis, Hypo... ORPHA:83601
Agnathia-Holoprosencephaly-Situs Inversus Syndrome
Situs inversus totalis, Cyclopia, Polyhydramnios, Aplasia/Hypoplasia of the eyebrow, Hypoplasia o... ORPHA:990
Bartsocas-Papas Syndrome 1
Ectopic kidney, Short metacarpal, Absent thumb, Absent radius, Intrauterine growth retardation, A... OMIM:263650
Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome Due To Wac Point Mutation
Gastroesophageal reflux, Branchial anomaly, Pelvic kidney, Dilatation of renal calices, Hirsutism... ORPHA:466950
Retinitis Pigmentosa 89
Intrahepatic bile duct dilatation, Esophageal varix, Hepatosplenomegaly, Micronodular cirrhosis, ... OMIM:618955
Van Maldergem Syndrome 1
Joint hypermobility, Short 4th metacarpal, Sacral dimple, Hypospadias, Scoliosis, Camptodactyly, ... OMIM:601390
Autism Spectrum Disorder Due To Auts2 Deficiency
Retrognathia, Short philtrum, Joint contracture of the 5th finger, Inguinal hernia, Highly arched... ORPHA:352490
Mitochondrial Complex Iv Deficiency, Nuclear Type 5
Highly arched eyebrow, Hypertension, Dysphagia, Left ventricular hypertrophy, Bicuspid aortic val... OMIM:220111
Schimke Immunoosseous Dysplasia
Hypertension, Cerebral ischemia, Microdontia, Lymphopenia, Intrauterine growth retardation, Stage... OMIM:242900
Resistance To Thyrotropin-Releasing Hormone Syndrome
Reduced circulating prolactin concentration, Pituitary hypothyroidism, Thyroid hypoplasia, Growth... ORPHA:99832
Hengel-Maroofian-Schols Syndrome
Widely spaced teeth, Short philtrum, Tooth malposition, Foot joint contracture, Everted lower lip... OMIM:619641
Dysosteosclerosis
Optic atrophy, Craniofacial hyperostosis, Delayed eruption of teeth, Increased bone mineral densi... ORPHA:1782
Abnormal Origin Of Right Or Left Pulmonary Artery From The Aorta
Abnormal aortic arch morphology, Abnormal descending aorta morphology, Aortopulmonary window, Lef... ORPHA:99050
Greig Cephalopolysyndactyly Syndrome
Congenital diaphragmatic hernia, Hydrocephalus, Accelerated skeletal maturation, Agenesis of corp... ORPHA:380
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 2
Rhizomelia, 11 pairs of ribs, Narrow chest, Unilateral renal agenesis, Chronic kidney disease, He... OMIM:617661
Intellectual Developmental Disorder, X-Linked, Syndromic 35
Dilation of Virchow-Robin spaces, Dental crowding, Long philtrum, Intrauterine growth retardation... OMIM:300998
Coffin-Siris Syndrome
Delayed skeletal maturation, Abnormal heart morphology, Wide mouth, Broad philtrum, Joint hypermo... ORPHA:1465
20Q13.33 Microdeletion Syndrome
Thin vermilion border, Sacral dimple, Dilation of Virchow-Robin spaces, Hypospadias, Hypoplastic ... ORPHA:261311
Vein Of Galen Aneurysmal Malformation
Peripheral arteriovenous fistula, Vascular dilatation, Abnormal cerebral vascular morphology ORPHA:1053
Brachydactyly, Type B1
Hypoplastic sacrum, Wide anterior fontanel, Delayed cranial suture closure, Hemivertebrae, Campto... OMIM:113000
Acrorenal-Mandibular Syndrome
Kyphoscoliosis, Congenital diaphragmatic hernia, Intrauterine growth retardation, Oligohydramnios... OMIM:200980
Aortic Arch Interruption
Blood pressure substantially higher in arms than legs, Aortopulmonary window, Abnormal ascending ... ORPHA:2299
Brain-Lung-Thyroid Syndrome
Megacystis, Abnormal cardiac septum morphology, Hypospadias, Patent foramen ovale, Pulmonary arte... ORPHA:209905
Craniofrontonasal Syndrome
Congenital diaphragmatic hernia, Pectus excavatum, Low posterior hairline, Umbilical hernia, Join... OMIM:304110
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 3
Kyphoscoliosis, Dislocated radial head, Short metacarpal, Cigarette-paper scars, Bifid uvula, Mod... OMIM:612350
Cornelia De Lange Syndrome
Delayed puberty, Congenital diaphragmatic hernia, Hypoplasia of penis, Highly arched eyebrow, Pec... ORPHA:199
Heme Oxygenase 1 Deficiency
Hepatomegaly, Hematuria, Lymphadenopathy, Hypertension, Asplenia, Growth delay, Nephritis, Epista... OMIM:614034
Agnathia-Otocephaly Complex
Situs inversus totalis, Polyhydramnios, Tracheomalacia, Narrow mouth, Mandibular aplasia, Microgn... OMIM:202650
Thrombocytopenia-Absent Radius Syndrome
Fibular aplasia, Abnormality of the kidney, Fused cervical vertebrae, Aplasia/Hypoplasia of the u... ORPHA:3320
Tetraamelia Syndrome 2
Bilateral lung agenesis, Hypoplastic pulmonary veins, Amelia, Glossoptosis, Absent nipple, Ankylo... OMIM:618021
Mandibulofacial Dysostosis With Alopecia
Hydroureter, Dental crowding, Glossoptosis, Everted lower lip vermilion, Hypoplasia of the maxill... OMIM:616367
Basel-Vanagaite-Smirin-Yosef Syndrome
Retrognathia, Pectus carinatum, Everted lower lip vermilion, Kyphosis, Contracture of the proxima... ORPHA:464738
Vacterl With Hydrocephalus
Retrognathia, Renal hypoplasia/aplasia, Abnormal form of the vertebral bodies, Tracheoesophageal ... ORPHA:3412
Dysosteosclerosis
Short ribs, Hypoplastic vertebral bodies, Delayed closure of the anterior fontanelle, Broad ribs,... OMIM:224300
Hereditary Hemorrhagic Telangiectasia
Tongue telangiectasia, Spontaneous hematomas, Gastrointestinal hemorrhage, Intestinal polyposis, ... ORPHA:774
Baller-Gerold Syndrome
Abnormal carpal morphology, Aplasia/Hypoplasia of the thumb, Aplasia/Hypoplasia of the patella, S... ORPHA:1225
Lethal Congenital Contracture Syndrome 10
Long philtrum, Cardiomegaly, Intrauterine growth retardation, Oligohydramnios, Broad ribs, Narrow... OMIM:617022
Xk Aprosencephaly Syndrome
Polyhydramnios, Narrow mouth, Anal atresia, Atrial septal defect, Ventricular septal defect ORPHA:3469
Ventriculomegaly With Defects Of The Radius And Kidney
Ureteral duplication, Vascular dilatation, Ectopic kidney, Hydrocephalus, Forearm undergrowth, Re... OMIM:602200
Spondyloepimetaphyseal Dysplasia, Shohat Type
Thin vermilion border, Hepatomegaly, Platyspondyly, Bell-shaped thorax, Vertebral compression fra... OMIM:602557
Serkal Syndrome
Congenital diaphragmatic hernia, Orofacial cleft, Abnormality of the adrenal glands, Hypospadias,... ORPHA:139466
Cerebellar Atrophy, Visual Impairment, And Psychomotor Retardation
Optic atrophy, Retrognathia, Short philtrum, Limb hypertonia, Gingival overgrowth, Scoliosis, Lar... OMIM:616875
Opitz Gbbb Syndrome
Solitary median maxillary central incisor, Unilateral cleft lip, Dysphagia, Congenital posterior ... OMIM:300000
Congenital Disorder Of Glycosylation, Type Iil
Retrognathia, Proximal tubulopathy, Cholestasis, Splenomegaly, Intrauterine growth retardation, V... OMIM:614576
Intellectual Developmental Disorder, X-Linked, Syndromic, Lujan-Fryns Type
Short philtrum, Dental crowding, Ascending tubular aorta aneurysm, Hyperextensibility of the fing... OMIM:309520
Maternal Phenylketonuria
Long philtrum, Esophageal atresia, Abnormal renal morphology, High palate, Micrognathia, Abnormal... ORPHA:2209
Cowden Syndrome 5
Thyroiditis, Scoliosis, High palate, Furrowed tongue, Narrow mouth, Hamartomatous polyposis, Hypo... OMIM:615108
Trisomy 8P
Retrognathia, Low posterior hairline, Bifid uvula, Nephrocalcinosis, Heart murmur, Malrotation of... ORPHA:264450
Vacterl Association With Hydrocephalus
Stillbirth, Aqueductal stenosis, Abnormal vertebral morphology, Abnormality of the vertebral colu... OMIM:276950
Neurodevelopmental Disorder With Microcephaly, Cerebral Atrophy, And Visual Impairment
Congestive heart failure, Cardiomegaly, Aortic regurgitation, Ventriculomegaly, Partial atriovent... OMIM:620066
Meckel Syndrome 14
Pneumothorax, Retrognathia, Occipital encephalocele, Polycystic kidney dysplasia, Tricuspid regur... OMIM:619879
Brachydactyly-Short Stature-Retinitis Pigmentosa Syndrome
Inguinal hernia, Abnormality of the endocrine system, Abnormal vena cava morphology, Absent eyela... ORPHA:166035
Atrial Septal Defect, Coronary Sinus Type
Presyncope, Pneumonia, Increased pulmonary vascular resistance, Stroke, Supraventricular arrhythm... ORPHA:99104
Thyroid Hypoplasia
Jaundice, Thyroid hypoplasia, Hypothyroidism, Growth delay, Short stature, Macroglossia ORPHA:95720
Craniofacial Dyssynostosis With Short Stature
Hypospadias, Hydrocephalus, Cryptorchidism, Pyloric stenosis, Short stature, Malar flattening, Ag... OMIM:218350
Pontocerebellar Hypoplasia, Type 11
Coloboma, Anal atresia, Short stature, Dysphagia, Agenesis of corpus callosum, Skeletal muscle at... OMIM:617695
Congenital Heart Defects, Multiple Types, 7
Right aortic arch, Absence of the pulmonary valve, Pulmonary artery atresia, Double aortic arch, ... OMIM:618780
Bardet-Biedl Syndrome 2
Hypogonadism, Bicuspid aortic valve, Atrial septal defect, Diabetes mellitus, Dilated cardiomyopathy OMIM:615981
Congenital Anomalies Of Kidney And Urinary Tract Syndrome With Or Without Hearing Loss, Abnormal Ears, Or Developmental Delay
Congenital diaphragmatic hernia, Ectopic kidney, Decreased numbers of nephrons, Abnormal heart mo... OMIM:617641
Kabuki Syndrome 2
Highly arched eyebrow, Pulmonic stenosis, Joint hypermobility, Short 5th finger, Intrauterine gro... OMIM:300867
Fanconi Anemia, Complementation Group C
Ectopic kidney, Anterior wedging of T12, Bone marrow hypocellularity, Absent thumb, Intrauterine ... OMIM:227645
Oculocerebrocutaneous Syndrome
Congenital diaphragmatic hernia, Orofacial cleft, Hydrocephalus, Dandy-Walker malformation, Alope... ORPHA:1647
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome
Cervical C2/C3 vertebral fusion, Highly arched eyebrow, Glossoptosis, Abnormal heart morphology, ... ORPHA:444077
Short Stature, Microcephaly, And Endocrine Dysfunction
Anemia, Ectopic kidney, Inguinal hernia, Tooth malposition, Unilateral renal agenesis, Sensory ax... OMIM:616541
Renal Hypoplasia
Abnormal renal tubule morphology, Unilateral renal agenesis, Recurrent urinary tract infections, ... ORPHA:93101
Proximal 16P11.2 Microduplication Syndrome
Congenital diaphragmatic hernia, Scoliosis, Hemivertebrae, Short stature, Sparse eyelashes, Spars... ORPHA:370079
Cardiomyopathy, Dilated, 1S
Congestive heart failure, Perimembranous ventricular septal defect, Reduced left ventricular ejec... OMIM:613426
Frontometaphyseal Dysplasia 1
Limited elbow movement, Cervical C2/C3 vertebral fusion, Dislocated radial head, Wrist flexion co... OMIM:305620
X-Linked Skeletal Dysplasia-Intellectual Disability Syndrome
Fused cervical vertebrae, Scoliosis, Anal atresia, Short stature, Short middle phalanx of finger,... ORPHA:1436
Mungan Syndrome
Perimembranous ventricular septal defect, Intestinal pseudo-obstruction, Vesicoureteral reflux, B... OMIM:611376
Noonan Syndrome
Pectus carinatum, Enlarged thorax, Pectus excavatum, Low posterior hairline, Delayed skeletal mat... ORPHA:648
Cowden Syndrome 6
Thyroiditis, Scoliosis, High palate, Furrowed tongue, Narrow mouth, Hamartomatous polyposis, Hypo... OMIM:615109
Mucopolysaccharidosis Type 2, Severe Form
Temporomandibular joint ankylosis, Cardiomyopathy, Hypertension, Dermatan sulfate excretion in ur... ORPHA:217085
Diaphragmatic Defect-Limb Deficiency-Skull Defect Syndrome
Congenital diaphragmatic hernia, Decreased skull ossification, Omphalocele, Pulmonary hypoplasia,... ORPHA:2141
Microphthalmia With Linear Skin Defects Syndrome
Congenital diaphragmatic hernia, Retrognathia, Abnormal rectum morphology, Severe short stature, ... ORPHA:2556
Syndactyly-Telecanthus-Anogenital And Renal Malformations Syndrome
Hypoplasia of the radius, Aortic regurgitation, Ectopic kidney, Horseshoe kidney, Vesicoureteral ... ORPHA:140952
Acrocallosal Syndrome
Abnormal clavicle morphology, Congenital diaphragmatic hernia, Hypospadias, Inguinal hernia, Wide... ORPHA:36
Phace Association
Optic atrophy, Vascular dilatation, Aortic aneurysm, Optic nerve hypoplasia, Dandy-Walker malform... OMIM:606519
Cervical Vertebral Dysplasia
Anterior atlanto-occipital dislocation, Cervical vertebral facet hypoplasia, Cervical vertebral d... OMIM:118005
Cohen Syndrome
Delayed puberty, Pectus excavatum, Kyphosis, Tooth agenesis, Mitral valve prolapse, Joint hypermo... ORPHA:193
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome
Abnormal clavicle morphology, Rhizomelia, Short philtrum, Narrow chest, Decreased skull ossificat... ORPHA:93267
Robinow Syndrome, Autosomal Dominant 3
Kyphosis, Mesomelia, Long philtrum, Hypoplastic right heart, Sacral dimple, Triangular mouth, Pat... OMIM:616894
Noonan Syndrome-Like Disorder With Or Without Juvenile Myelomonocytic Leukemia
Retrognathia, Highly arched eyebrow, Pectus excavatum, Low posterior hairline, Aortic valve steno... OMIM:613563
Mucopolysaccharidosis, Type Vi
Kyphoscoliosis, Cervical myelopathy, Pectus carinatum, Sinus tachycardia, Cardiomyopathy, Dermata... OMIM:253200
Bohring-Opitz Syndrome
Retrognathia, Hyperechogenic pancreas, Dislocated radial head, Broad alveolar ridges, Bilateral c... OMIM:605039
Diaphanospondylodysostosis
Absent or minimally ossified vertebral bodies, Short thorax, Enlarged thorax, Missing ribs, Myelo... ORPHA:66637
Holoprosencephaly 9
Solitary median maxillary central incisor, Bilateral cleft palate, Optic nerve hypoplasia, Hypopl... OMIM:610829
Mucopolysaccharidosis Type 2, Attenuated Form
Temporomandibular joint ankylosis, Cardiomyopathy, Hypertension, Dermatan sulfate excretion in ur... ORPHA:217093
Fetal Trimethadione Syndrome
Transposition of the great arteries, Hypospadias, Scoliosis, High palate, Synophrys, Micrognathia... ORPHA:1913
Angiokeratoma Corporis Diffusum With Arteriovenous Fistulas
Arteriovenous fistula OMIM:600419
Adams-Oliver Syndrome 1
Encephalocele, Alopecia, Hypertension, Pulmonary arterial hypertension, Pulmonic stenosis, Aortic... OMIM:100300
Witteveen-Kolk Syndrome
Congenital diaphragmatic hernia, Delayed skeletal maturation, Joint hypermobility, Long philtrum,... OMIM:613406
Lethal Kniest-Like Dysplasia
Polyhydramnios, Narrow chest, Wide anterior fontanel, Mesomelic/rhizomelic limb shortening, Short... ORPHA:2347
Cowden Syndrome 1
Thyroiditis, Scoliosis, High palate, Furrowed tongue, Narrow mouth, Hamartomatous polyposis, Hypo... OMIM:158350
Ciliary Dyskinesia, Primary, 39
Double outlet right ventricle, Recurrent lower respiratory tract infections, Dextrocardia, Bronch... OMIM:618254
Seckel Syndrome 8
Kyphoscoliosis, Micrognathia, Ectopic kidney, Short stature OMIM:615807
Odontoid Hypoplasia
Cervical instability, Atlantoaxial instability, Dystopic os odontoideum, Hypoplasia of the odonto... OMIM:613628
13Q12.3 Microdeletion Syndrome
Kyphoscoliosis, Congenital diaphragmatic hernia, Oligodontia, Camptodactyly, Short stature, Malar... ORPHA:412035
X-Linked Female Restricted Facial Dysmorphism-Short Stature-Choanal Atresia-Intellectual Disability
Delayed puberty, Cardiomyopathy, Long philtrum, Joint hypermobility, Ventriculomegaly, Sacral dim... ORPHA:480880
Diets-Jongmans Syndrome
Congenital diaphragmatic hernia, Polyhydramnios, Hypospadias, Inguinal hernia, Ventricular septal... OMIM:618846
Agenesis Of The Corpus Callosum With Peripheral Neuropathy
Decreased sensory nerve conduction velocity, Decreased nerve conduction velocity, Ventriculomegal... OMIM:218000
Stiff Skin Syndrome
Gastroesophageal reflux, Elbow flexion contracture, Camptodactyly, Short stature, Lipodystrophy, ... OMIM:184900
Leukodystrophy, Hypomyelinating, 26, With Chondrodysplasia
Retrognathia, Scoliosis, Glossoptosis, Knee dislocation, Short stature, Lumbar scoliosis, Pierre-... OMIM:620269
Specc1L-Related Hypertelorism Syndrome
Orofacial cleft, Advanced eruption of teeth, Thin vermilion border, Patent ductus arteriosus, Ect... ORPHA:1519
Chronic Atrial And Intestinal Dysrhythmia
Left atrial enlargement, Sick sinus syndrome, Atrial flutter, Intestinal pseudo-obstruction, Brad... OMIM:616201
Congenital Disorder Of Glycosylation, Type Iit
Urinary incontinence, Iron deficiency anemia, Short philtrum, Short stature, Thick vermilion bord... OMIM:618885
Ulnar-Mammary Syndrome
Delayed puberty, Aplasia of the pectoralis major muscle, Hypoplasia of penis, Pectus carinatum, S... ORPHA:3138
Kaufman Oculocerebrofacial Syndrome
Bell-shaped thorax, High palate, Narrow mouth, Congenital hip dislocation, Intestinal malrotation... OMIM:244450
Beckwith-Wiedemann Syndrome
Congenital diaphragmatic hernia, Rhabdomyosarcoma, Ureteral duplication, Enlarged kidney, Acceler... ORPHA:116
Campomelic Dysplasia
Kyphoscoliosis, Disproportionate short-limb short stature, Absent sternal ossification, Dislocate... OMIM:114290
Peters-Plus Syndrome
Bilobate gallbladder, Limited elbow movement, Ureteral duplication, Disproportionate short-limb s... OMIM:261540
Duane Retraction Syndrome
Hypoplasia of the radius, Aniridia, Spina bifida occulta, Abnormal form of the vertebral bodies, ... ORPHA:233
Microphthalmia With Limb Anomalies
Abnormal form of the vertebral bodies, Abnormal eyebrow morphology, Hypoplasia of the premaxilla,... ORPHA:1106
Congenital Tracheal Stenosis
Meckel diverticulum, Tracheoesophageal fistula, Oligohydramnios, Abnormality of the kidney, Anoma... ORPHA:141127
Fumarase Deficiency
Optic atrophy, Perimembranous ventricular septal defect, Intrahepatic cholestasis, Bilateral feta... OMIM:606812
Schinzel-Giedion Syndrome
Kyphoscoliosis, Retrognathia, Stiff elbow, Broad alveolar ridges, Generalized hypertrichosis, Abn... ORPHA:798
Ulnar-Mammary Syndrome
Delayed puberty, Stiff elbow, Aplasia of the 4th metacarpal, Short humerus, Sparse axillary hair,... OMIM:181450
Schwartz-Jampel Syndrome, Type 1
Kyphoscoliosis, Flexion contracture of toe, Pectus carinatum, Wrist flexion contracture, Delayed ... OMIM:255800
Coffin-Lowry Syndrome
Abnormal form of the vertebral bodies, Pectus carinatum, Everted lower lip vermilion, Pectus exca... ORPHA:192
Combined Pituitary Hormone Deficiencies, Genetic Forms
Delayed puberty, Absence of secondary sex characteristics, Pituitary dwarfism, Optic nerve hypopl... ORPHA:95494
Igg4-Related Aortitis
Intestinal obstruction, Abnormal aortic arch morphology, Ascending tubular aorta aneurysm, Aortic... ORPHA:449400
ERI1-related disease
Dislocated radial head, Pectus carinatum, Pectus excavatum, Delayed skeletal maturation, Abnormal... OMIM:608739
Weill-Marchesani Syndrome 2
Flexion contracture of toe, Short metacarpal, Aortic valve stenosis, Pulmonic stenosis, Joint sti... OMIM:608328
Townes-Brocks Syndrome 1
Tracheoesophageal fistula, Urethral valve, Umbilical hernia, Aplasia/Hypoplasia of the 3rd toe, H... OMIM:107480
Lenz-Majewski Hyperostotic Dwarfism
Broad clavicles, Delayed skeletal maturation, Sparse hair, Joint hypermobility, Intrauterine grow... OMIM:151050
Proboscis Lateralis
Optic nerve hypoplasia, Abnormal eyebrow morphology, Ureteral agenesis, Long philtrum, Duplicatio... ORPHA:141099
Splenogonadal Fusion-Limb Defects-Micrognathia Syndrome
Narrow palate, Abnormal palate morphology, Abnormal lung lobation, Abnormality of the wrist, Cong... ORPHA:2063
Peutz-Jeghers Syndrome
Intestinal obstruction, Gastrointestinal hemorrhage, Abnormality of the gallbladder, Biliary trac... ORPHA:2869
Floating-Harbor Syndrome
Kyphoscoliosis, Mesocardia, Dislocated radial head, Short metacarpal, Microdontia, Delayed skelet... ORPHA:2044
Spondyloenchondrodysplasia
Pectus carinatum, Hypertension, Kyphosis, Lower limb pain, Short distal phalanx of finger, Ventri... ORPHA:1855
Martsolf Syndrome 1
Pectus carinatum, Cardiomyopathy, Pectus excavatum, Short metacarpal, Low posterior hairline, Lon... OMIM:212720
Ritscher-Schinzel Syndrome 2
Postnatal growth retardation, Short philtrum, Wide anterior fontanel, Scoliosis, Dandy-Walker mal... OMIM:300963
Schimmelpenning-Feuerstein-Mims Syndrome
Kyphoscoliosis, Osteopenia, Hypophosphatemic rickets, Horseshoe kidney, Abnormality of dental col... OMIM:163200
Cap Myopathy
Aortic root aneurysm, Lower limb amyotrophy, Sinus tachycardia, High palate, Pectus excavatum, Fa... ORPHA:171881
Diaphanospondylodysostosis
Enlarged kidney, Abnormal liver lobulation, Decreased skull ossification, Thoracic hypoplasia, Un... OMIM:608022
Tetrasomy 12P
Abnormal soft palate morphology, Delayed eruption of teeth, Everted lower lip vermilion, Anal atr... ORPHA:884
1Q44 Microdeletion Syndrome
Thin vermilion border, Hydrocephalus, Scoliosis, Exaggerated cupid's bow, High palate, Vesicouret... ORPHA:238769
X-Linked Intellectual Disability, Snyder Type
Kyphoscoliosis, Ectopic kidney, Dental crowding, Pectus carinatum, Everted lower lip vermilion, P... ORPHA:3063
Metatropic Dysplasia
Kyphoscoliosis, Relatively short spine, Disproportionate short-limb short stature, Short ribs, Lo... OMIM:156530
Developmental Delay With Short Stature, Dysmorphic Facial Features, And Sparse Hair 2
High anterior hairline, Muscular ventricular septal defect, Notched primary central incisor, Spar... OMIM:620062
Thanatophoric Dysplasia Type 1
Abnormality of the kidney, Polyhydramnios, Narrow chest, Hydrocephalus, Wide anterior fontanel, A... ORPHA:1860
Mucopolysaccharidosis-Plus Syndrome
Enlarged kidney, Pectus carinatum, Pectus excavatum, Recurrent bronchopulmonary infections, Low p... OMIM:617303
Diamond-Blackfan Anemia 20
Acetabular dysplasia, Erythroid hypoplasia, Anemia, Total anomalous pulmonary venous return OMIM:618313
Loeys-Dietz Syndrome 5
Kyphoscoliosis, Retrognathia, Flexion contracture of toe, Spondylolisthesis, Pectus carinatum, Pe... OMIM:615582
Cranioectodermal Dysplasia 1
Short ribs, Everted lower lip vermilion, Microdontia, Pectus excavatum, Short humerus, Sparse hai... OMIM:218330
Ssr4-Cdg
Widely spaced teeth, Abnormality of the gastrointestinal tract, Joint dislocation, Gastroesophage... ORPHA:370927
Noonan Syndrome With Multiple Lentigines
Pectus carinatum, Pectus excavatum, Pulmonic stenosis, Abnormal mitral valve morphology, Arrhythm... ORPHA:500
White Forelock With Malformations
Prominent veins on trunk, Poliosis, White forelock, Aplasia/Hypoplasia of the distal phalanges of... OMIM:277740
Wolcott-Rallison Syndrome
Jaundice, Neutropenia, Hepatomegaly, Iron deficiency anemia, Lymphocytosis, Dehydration, Ascites,... ORPHA:1667
Tetraamelia Syndrome 1
Abnormal clavicle morphology, Congenital diaphragmatic hernia, Hydrocephalus, Anal atresia, Asple... OMIM:273395
Trisomy 12P
Abnormality of the urinary system, Everted lower lip vermilion, Anal atresia, Short stature, Dela... ORPHA:1699
Nestor-Guillermo Progeria Syndrome
Left atrial enlargement, Limited elbow movement, Lipoatrophy, Nail dystrophy, Dental crowding, Hy... OMIM:614008
Atrioventricular Septal Defect 5
Atrioventricular canal defect, Muscular ventricular septal defect, Hypoplastic left heart OMIM:614474
Microphthalmia, Syndromic 11
Cleft upper lip, Cleft palate, Agenesis of pineal gland, Agenesis of corpus callosum OMIM:614402
Hypothyroidism, Congenital, Nongoitrous, 5
Elevated circulating thyroid-stimulating hormone concentration, Thyroid agenesis, Patent foramen ... OMIM:225250
Diamond-Blackfan Anemia
Abnormality of the thenar eminence, Normochromic anemia, Macrocytic dyserythropoietic anemia, Abn... ORPHA:124
Oculofaciocardiodental Syndrome
Solitary median maxillary central incisor, Highly arched eyebrow, Intestinal malrotation, Flexion... ORPHA:2712
Alkaptonuria
Limitation of knee mobility, Decreased glomerular filtration rate, Intervertebral disk degenerati... OMIM:203500
Postaxial Polydactyly-Dental And Vertebral Anomalies Syndrome
Abnormal form of the vertebral bodies, Congenital muscular torticollis, Abnormal dental enamel mo... ORPHA:2916
Cardiac Valvular Dysplasia 2
Pulmonary insufficiency, Aortic regurgitation, Palpitations, Ascending tubular aorta aneurysm, Dy... OMIM:620067
Maffucci Syndrome
Neoplasm of the parathyroid gland, Ovarian neoplasm, Bone pain, Scoliosis, Neoplasm of the adrena... ORPHA:163634
Fanconi Anemia, Complementation Group B
Aplastic anemia, Tracheoesophageal fistula, Bilateral radial aplasia, Absent thumb, Hypogonadism,... OMIM:300514
Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart
Broad alveolar ridges, Intrauterine growth retardation, Ventriculomegaly, Widow's peak, Optic atr... OMIM:616975
Mucolipidosis Ii Alpha/Beta
Enlarged kidney, Palpebral edema, Flat acetabular roof, Pectus excavatum, Wide mouth, Splenomegal... OMIM:252500
Transaldolase Deficiency
Wide mouth, Splenomegaly, Micronodular cirrhosis, Intrauterine growth retardation, Oligohydramnio... OMIM:606003
Lujan-Fryns Syndrome
Short philtrum, Dental crowding, Scoliosis, High palate, Abnormality of the dentition, Pectus exc... ORPHA:776
Steinfeld Syndrome
Hypoplasia of the ulna, Hypoplasia of the radius, Abnormal vertebral morphology, Unilateral renal... OMIM:184705
Focal Facial Dermal Dysplasia Type Iii
Short philtrum, Highly arched eyebrow, Anal atresia, Abnormality of the upper urinary tract, Spar... ORPHA:1807
Hypothyroidism, Congenital, Nongoitrous, 2
Elevated circulating thyroid-stimulating hormone concentration, Thyroid agenesis, Bradycardia, Th... OMIM:218700
Cervical Vertebrae, Agenesis Of
Cervical vertebral agenesis OMIM:214290
Neurodevelopmental Disorder With Feeding Difficulties, Thin Corpus Callosum, And Foot Deformity
Aortic valve stenosis, Bicuspid aortic valve, Hydrocephalus OMIM:615599
X-Linked Intellectual Disability, Sutherland-Haan Type
Mandibular prognathia, Anal atresia, Hypoplasia of the maxilla, Short stature, Decreased testicul... ORPHA:93950
German Syndrome
Orofacial cleft, Lymphedema, High palate, Everted lower lip vermilion, Limitation of joint mobili... ORPHA:2077
Heterotaxy, Visceral, 9, Autosomal, With Male Infertility
Situs inversus totalis, Dextrocardia, Asplenia OMIM:618948
Cervical Ribs, Sprengel Anomaly, Anal Atresia, And Urethral Obstruction
Urethral obstruction, Anal atresia, Omphalocele, Thoracolumbar scoliosis, Sprengel anomaly, Renal... OMIM:601389
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders
Enlarged kidney, Pectus carinatum, Joint stiffness, Bone marrow hypocellularity, Abnormal heart m... ORPHA:505248
Endocrine-Cerebroosteodysplasia
Enlarged kidney, Polyhydramnios, Barrel-shaped chest, Narrow chest, Hypospadias, Hydrocephalus, A... OMIM:612651
Noonan Syndrome 10
Pectus carinatum, Pectus excavatum, Pulmonic stenosis, Mitral valve prolapse, Left ventricular hy... OMIM:616564
Brooke-Spiegler Syndrome
Abnormal bleeding, Facial palsy, Abnormality of the submandibular glands, Abnormality of the subl... ORPHA:79493
Lowe-Kohn-Cohen Syndrome
Anorectal anomaly, Nephropathy, Anal atresia ORPHA:2408
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1
Optic atrophy, Occipital encephalocele, Muscular dystrophy, Hydrocephalus, Optic nerve hypoplasia... OMIM:236670
Bilateral Perisylvian Polymicrogyria
Gastroesophageal reflux, Abnormality of masticatory muscle, Limb hypertonia, Weakness of facial m... ORPHA:98889
Hurler Syndrome
Cardiomyopathy, Microdontia, Kyphosis, Joint stiffness, Biconcave vertebral bodies, Dermatan sulf... OMIM:607014
Mosaic Trisomy 20
Retrognathia, Kyphosis, Abnormal mitral valve morphology, Dysplastic tricuspid valve, Intrauterin... ORPHA:1724
Hypothyroidism, Congenital, Nongoitrous, 9
Inappropriately normal thyroid-stimulating hormone level, Thyroid hypoplasia, Central hypothyroid... OMIM:301035
7Q31 Microdeletion Syndrome
Postnatal growth retardation, Torticollis, Recurrent respiratory infections, Gastroesophageal ref... ORPHA:251061
Schisis Association
Congenital diaphragmatic hernia, Anencephaly, Encephalocele, Anal atresia, Spina bifida, Tracheoe... ORPHA:63862
Shprintzen-Goldberg Syndrome
Retrognathia, Abnormal form of the vertebral bodies, Pectus carinatum, Pectus excavatum, Joint st... ORPHA:2462
Li-Campeau Syndrome
Patellar hypoplasia, Patent foramen ovale, Cryptorchidism, Hypothyroidism, Short stature, Thick e... OMIM:619189
Cardiac-Valvular Ehlers-Danlos Syndrome
Kyphoscoliosis, Hypermobility of distal interphalangeal joints, Dental crowding, Pectus excavatum... ORPHA:230851
Kleefstra Syndrome Due To 9Q34 Microdeletion
Hypoplasia of penis, Highly arched eyebrow, Everted lower lip vermilion, Aortic valve stenosis, V... ORPHA:96147
Pearson Syndrome
Steatorrhea, Cardiomyopathy, Reticulocytosis, Bone marrow hypocellularity, Abnormal heart morphol... ORPHA:699
Mental Retardation, Skeletal Dysplasia, And Abducens Palsy
Fused cervical vertebrae, Scoliosis, Anal atresia, Prominent metopic ridge, Short stature, Short ... OMIM:309620
Muscle-Eye-Brain Disease
Optic atrophy, Meningocele, Hydrocephalus, Holoprosencephaly, Myopathy ORPHA:588
Wac-Related Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome
Gastroesophageal reflux, Pelvic kidney, Dilatation of renal calices, Synophrys, Short palm, Downt... ORPHA:466943
Faciocardiomelic Syndrome
Osteopenia, Narrow chest, Cuboid-shaped vertebral bodies, Dysharmonic skeletal maturation, Common... OMIM:612731
Alstrom Syndrome
Hypertension, Kyphosis, Accelerated skeletal maturation, Elevated hemoglobin A1c, Hepatic steatos... OMIM:203800
Familial Thyroid Dyshormonogenesis
Elevated circulating thyroid-stimulating hormone concentration, Bradycardia, Delayed cranial sutu... ORPHA:95716
You-Hoover-Fong Syndrome
Kyphoscoliosis, Pectus excavatum, Double aortic arch, Coarctation of aorta, Cleft palate, Vascula... OMIM:616954
Hypophosphatasia, Infantile
Disproportionate short-limb short stature, Short ribs, Elevated urine pyrophosphate, Short lower ... OMIM:241500
Cardiac Valvular Dysplasia, X-Linked
Congestive heart failure, Aortic regurgitation, Short chordae tendineae of the tricuspid valve, T... OMIM:314400
Spondylocostal Dysostosis 5
Butterfly vertebrae, Pectus carinatum, Scoliosis, Hemivertebrae, Missing ribs, Supernumerary ribs... OMIM:122600
Myoectodermal Gonadal Dysgenesis Syndrome
Highly arched eyebrow, Delayed skeletal maturation, Elevated circulating luteinizing hormone leve... OMIM:618419
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly
Ascites, Splenomegaly, Ventriculomegaly, Alveolar ridge overgrowth, Inguinal hernia, Pancreatic l... OMIM:235255
Intellectual Developmental Disorder, X-Linked, Syndromic, Hackmann-Di Donato Type
Short philtrum, Aortic root aneurysm, Pectus carinatum, Scoliosis, Pectus excavatum, Camptodactyl... OMIM:301039
Bone Dysplasia, Lethal Holmgren Type
Hepatomegaly, Rhizomelia, Bell-shaped thorax, Narrow chest, Joint dislocation, Abnormality of the... ORPHA:1842
Chromosome 13Q14 Deletion Syndrome
Inguinal hernia, Patent foramen ovale, High palate, Everted lower lip vermilion, Cryptorchidism, ... OMIM:613884
Spondylocostal Dysostosis With Anal Atresia And Urogenital Anomalies
Urethral atresia, Inguinal hernia, Thin ribs, Short ribs, Scoliosis, Hemivertebrae, Missing ribs,... OMIM:271520
Craniofacial Abnormalities, Cataracts, Congenital Heart Disease, Sacral Neural Tube Defects, And Growth And Developmental Retardation
Thick lower lip vermilion, Sacral dimple, Short philtrum, Scoliosis, Delayed skeletal maturation,... OMIM:608227
Microcephalic Osteodysplastic Primordial Dwarfism Type Ii
Retrognathia, Microdontia, Tooth agenesis, Delayed skeletal maturation, Abnormal cerebral vascula... ORPHA:2637
Global Developmental Delay-Visual Anomalies-Progressive Cerebellar Atrophy-Truncal Hypotonia Syndrome
Optic atrophy, Retrognathia, Short philtrum, Limb hypertonia, Gingival overgrowth, Scoliosis, Lar... ORPHA:480898
Heart And Brain Malformation Syndrome
High, narrow palate, Thick lower lip vermilion, Polyhydramnios, Gastroesophageal reflux, Limb hyp... OMIM:616920
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome
Calcification of the aorta, Delayed puberty, Spontaneous, recurrent epistaxis, Pectus excavatum, ... ORPHA:2072
Holoprosencephaly 14
Aqueductal stenosis, Cyclopia, Aortic valve atresia, Hydrocephalus, Dandy-Walker malformation, Al... OMIM:619895
Kbg Syndrome
Epispadias, Oligodontia, Thoracic kyphosis, Low posterior hairline, Rib fusion, Short stature, De... OMIM:148050
Ciliary Dyskinesia, Primary, 1
Situs inversus totalis, Atelectasis, Absent frontal sinuses, Recurrent bronchitis, Bronchiectasis... OMIM:244400
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type
Postnatal growth retardation, Vascular dilatation, Bell-shaped thorax, Narrow chest, Delayed epip... OMIM:613320
Mosaic Variegated Aneuploidy Syndrome 2
Abnormal lung lobation, Decreased response to growth hormone stimulation test, Rhizomelia, Aortic... OMIM:614114
Monosomy 9P
Congenital diaphragmatic hernia, Highly arched eyebrow, Low posterior hairline, Long philtrum, He... ORPHA:261112
Intellectual Developmental Disorder, Autosomal Dominant 44, With Microcephaly
Retrognathia, Dental crowding, Pectus excavatum, Kyphosis, Dysphagia, Long philtrum, Short philtr... OMIM:617061
1Q41Q42 Microdeletion Syndrome
Congenital diaphragmatic hernia, Hypergonadotropic hypogonadism, Hyposegmentation of neutrophil n... ORPHA:250999
Klippel-Feil Syndrome 4, Autosomal Recessive, With Nemaline Myopathy And Facial Dysmorphism
Acetabular dysplasia, Cervical C2/C3 vertebral fusion, Cardiomyopathy, Everted lower lip vermilio... OMIM:616549
Microhydranencephaly, X-Linked
Intrauterine growth retardation, Multiple joint contractures, Holoprosencephaly OMIM:306990
Menkes Disease
Abnormal carotid artery morphology, Spontaneous hematomas, Gastrointestinal hemorrhage, Pectus ex... ORPHA:565
Microcephaly-Thin Corpus Callosum-Intellectual Disability Syndrome
Bicuspid aortic valve, Hydrocephalus ORPHA:397951
Coffin-Siris Syndrome 12
Highly arched eyebrow, Ridged cranial sutures, Pectus excavatum, Noncommunicating hydrocephalus, ... OMIM:619325
Hemangiomas, Cavernous, Of Face And Supraumbilical Midline Raphe
Supraumbilical raphe, Right aortic arch, Coarctation of aorta, Bifid sternum OMIM:140850
Gillespie Syndrome
Ventriculomegaly, Truncus arteriosus, Aniridia OMIM:206700
Mccune-Albright Syndrome
Hepatocellular adenoma, Cholestasis, Accelerated skeletal maturation, Bone marrow hypocellularity... ORPHA:562
Cardiomyopathy, Dilated, 2H
Reduced left ventricular ejection fraction, Secundum atrial septal defect, Muscular ventricular s... OMIM:620203
Fucosidosis
Absent/hypoplastic paranasal sinuses, Absent/hypoplastic coccyx, Splenomegaly, Cardiomegaly, Hern... OMIM:230000
16P13.11 Microduplication Syndrome
Transposition of the great arteries, Pectus excavatum, Coarctation of aorta, Tetralogy of Fallot,... ORPHA:261243
Juberg-Hayward Syndrome
Orofacial cleft, Hypoplasia of the radius, Abnormality of the wrist, Abnormal vertebral morpholog... ORPHA:2319
Classical-Like Ehlers-Danlos Syndrome Type 1
Gastrointestinal hemorrhage, Spina bifida occulta, Stroke, Adrenal hypoplasia, Precocious atheros... ORPHA:230839
Cloacal Exstrophy
Renal hypoplasia/aplasia, Hydroureter, Ectopic kidney, Intestinal duplication, Absent foot, Hypop... ORPHA:93929
Vertebral Hypoplasia With Lumbar Kyphosis
Vertebral hypoplasia, Lumbar kyphosis OMIM:192900
Total Anomalous Pulmonary Venous Return 1
Recurrent respiratory infections, Dextrocardia, Pulmonary arterial hypertension, Total anomalous ... OMIM:106700
Congenital Total Pulmonary Venous Return Anomaly
Cardiomegaly, Mixed total anomalous pulmonary venous connection, Transposition of the great arter... ORPHA:99125
Contractures, Pterygia, And Spondylocarpotarsal Fusion Syndrome 1A
Spondylolisthesis, Pectus carinatum, Craniosynostosis, Cervical spinal canal stenosis, Tarsal syn... OMIM:178110
10Q22.3Q23.3 Microduplication Syndrome
Abnormal clavicle morphology, Hypospadias, Abnormality of the philtrum, Abnormality of the dentit... ORPHA:276422
Lacrimoauriculodentodigital Syndrome
Corneal neovascularization, Microdontia, Bifid uvula, Absent thumb, Dysphagia, Hypoplasia of the ... ORPHA:2363
8P Inverted Duplication/Deletion Syndrome
Retrognathia, Everted lower lip vermilion, Pectus excavatum, Abnormal heart morphology, Wide mout... ORPHA:96092
Pycnodysostosis
Spondylolysis, Spondylolisthesis, Disproportionate short-limb short stature, Hyperlordosis, Kypho... ORPHA:763
Holoprosencephaly-Caudal Dysgenesis Syndrome
Cyclopia, Cleft palate, Holoprosencephaly, Abnormal cerebral vascular morphology, Renal insuffici... ORPHA:2165
Juvenile Polyposis Of Infancy
Midclavicular hypoplasia, Rectal prolapse, Protein-losing enteropathy, High, narrow palate, Paten... ORPHA:79076
Global Developmental Delay With Or Without Impaired Intellectual Development
Hypospadias, Oligodontia, Pulmonary sequestration, Pectus excavatum, Short stature, Lateral ventr... OMIM:618330
Hurler Syndrome
Abnormal nerve conduction velocity, Hypertension, Cardiomyopathy, Everted lower lip vermilion, Sp... ORPHA:93473
Heterotaxy, Visceral, 8, Autosomal
Atrial situs ambiguous, Congenitally corrected transposition of the great arteries with ventricul... OMIM:617205
Pontine Tegmental Cap Dysplasia
Scoliosis, Hemivertebrae, Facial palsy, Rib fusion, Dysphagia, Ankle clonus OMIM:614688
Autosomal Dominant Progressive External Ophthalmoplegia
Facial diplegia, Nocturia, Dysphagia, Left ventricular hypertrophy, Edema, Quadriceps muscle weak... ORPHA:254892
Hypothyroidism, Congenital, Nongoitrous, 1
Elevated circulating thyroid-stimulating hormone concentration, Goiter, Hypothyroidism, Thyroid h... OMIM:275200
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 5
Muscular dystrophy, Pelvic girdle muscle weakness, Exercise-induced myoglobinuria, Scoliosis, Hyp... OMIM:607155
Stag1-Related Intellectual Disability-Facial Dysmorphism-Gastroesophageal Reflux Syndrome
Limited elbow extension, Orofacial cleft, Gastroesophageal reflux, Scoliosis, High palate, Intrau... ORPHA:502434
Spondyloepimetaphyseal Dysplasia, Shohat Type
Squared-off platyspondyly, Disproportionate short stature, Abnormal vertebral morphology, General... ORPHA:93352
Restrictive Dermopathy
Ureteral duplication, Sparse or absent eyelashes, Temporomandibular joint ankylosis, Thoracic kyp... ORPHA:1662
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome
Limited elbow movement, Short metacarpal, Kyphosis, T lymphocytopenia, Delayed skeletal maturatio... ORPHA:508533
Cantú Syndrome
Low posterior hairline, Delayed skeletal maturation, Accelerated skeletal maturation, Wide mouth,... ORPHA:1517
Dislocation Of The Hip-Dysmorphism Syndrome
Abnormal palate morphology, Abnormal tricuspid valve morphology, Inguinal hernia, Abnormality of ... ORPHA:2412
Spondyloepimetaphyseal Dysplasia, Guo-Campeau Type
Dislocated radial head, Pectus carinatum, Absent toe, Severe intrauterine growth retardation, Pec... OMIM:620663
Kimura Disease
Follicular hyperplasia, Eosinophilia, Abnormal salivary gland morphology, Lymphadenopathy ORPHA:482
X-Linked Dominant Chondrodysplasia Punctata
Kyphoscoliosis, Abnormally ossified vertebrae, Neonatal epiphyseal stippling, Patellar dislocatio... ORPHA:35173
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 3
Hypoplastic sacrum, Nail dystrophy, Microdontia, Ureterocele, Sparse axillary hair, Urethral sten... OMIM:604292
Interatrial Communication
Atrial septal defect, Congestive heart failure, Atrial flutter, Sinus venosus atrial septal defec... ORPHA:1478
Otopalatodigital Syndrome, Type Ii
Kyphoscoliosis, Spondylolysis, Short ribs, Pectus excavatum, Short metacarpal, Umbilical hernia, ... OMIM:304120
Schwartz-Jampel Syndrome
Spinal rigidity, Flexion contracture of toe, Pectus carinatum, Hyperlordosis, Everted lower lip v... ORPHA:800
Floating-Harbor Syndrome
Kyphoscoliosis, Mesocardia, Dislocated radial head, Generalized hypertrichosis, Microdontia, Low ... OMIM:136140
Rhombencephalosynapsis
Aganglionic megacolon, Esophageal atresia, Hydrocephalus, Abnormal renal morphology, Narrow mouth... ORPHA:59315
Diaphragmatic Defects, Limb Deficiencies, And Ossification Defects Of Skull
Congenital diaphragmatic hernia, Abnormality of the diaphragm, Amelia, Decreased skull ossificati... OMIM:601163
Distal 7Q11.23 Microdeletion Syndrome
Atrial septal defect, Patent ductus arteriosus ORPHA:254351
Microphthalmia, Syndromic 5
Optic nerve hypoplasia, Coloboma, Short stature, Cleft palate, Joint hypermobility, Cryptorchidis... OMIM:610125
Kapur-Toriello Syndrome
Joint contracture of the hand, Abnormality of the urinary system, Scoliosis, Low posterior hairli... OMIM:244300
Anus, Imperforate
Ectopic anus, Hypospadias, Anal atresia OMIM:301800
Transaldolase Deficiency
Abnormality of the kidney, Cirrhosis, Hydrops fetalis, Anemia, Coarctation of aorta, Hepatospleno... ORPHA:101028
Wiedemann-Steiner Syndrome
Broad lateral eyebrow, Highly arched eyebrow, Generalized hypertrichosis, Low posterior hairline,... OMIM:605130
Aortic Valve Disease 2
Calcification of the aorta, Aortic regurgitation, Aortic aneurysm, Patent foramen ovale, Aortic t... OMIM:614823
Esophageal Atresia
Anorectal anomaly, Bronchitis, Tracheoesophageal fistula, Intestinal malrotation, Dysphagia, Scol... ORPHA:1199
Cutis Laxa-Marfanoid Syndrome
Congenital diaphragmatic hernia, Emphysema, Abnormal heart valve morphology, Limitation of joint ... ORPHA:171719
Chromosome 10Q26 Deletion Syndrome
Pectus excavatum, Low posterior hairline, Long philtrum, Craniosynostosis, Short stature, Patent ... OMIM:609625
Laterality Defects, Autosomal Dominant
Situs inversus totalis, Asplenia OMIM:601086
Endosteal Hyperostosis, Worth Type
Clavicular sclerosis, Sclerotic vertebral body, Craniofacial hyperostosis, Abnormal form of the v... ORPHA:2790
3Q29 Microdeletion Syndrome
Orofacial cleft, Hypospadias, Short philtrum, Gastroesophageal reflux, Horseshoe kidney, Dental c... ORPHA:65286
Camptodactyly Syndrome, Guadalajara Type 1
Abnormal form of the vertebral bodies, Highly arched eyebrow, Pectus carinatum, Pectus excavatum,... ORPHA:1327
Tricuspid Atresia
Hypoplasia of right ventricle, Transposition of the great arteries, Tricuspid atresia, Patent for... ORPHA:1209
Pseudoxanthoma Elasticum
Gastrointestinal hemorrhage, Hypertension, Nephrocalcinosis, Mitral valve prolapse, Abnormal cere... ORPHA:758
Braddock-Carey Syndrome 1
Multicystic kidney dysplasia, Hyperlordosis, Everted lower lip vermilion, Camptodactyly, Curly ha... OMIM:619980
Odontochondrodysplasia
Retrognathia, Platyspondyly, Narrow chest, Delayed eruption of teeth, Scoliosis, Micromelia, Shor... ORPHA:166272
Lymphatic Malformation 6
Pectus excavatum, Ascites, Nonimmune hydrops fetalis, Splenomegaly, Edema, Cellulitis, Scoliosis,... OMIM:616843
Robinow Syndrome, Autosomal Recessive 2
Long philtrum, Ventral hernia, Triangular mouth, Cleft soft palate, Gingival overgrowth, Abnormal... OMIM:618529
Microphthalmia, Syndromic 1
Kyphoscoliosis, Renal hypoplasia/aplasia, Dental crowding, Pectus excavatum, Bicuspid aortic valv... OMIM:309800
Atelosteogenesis, Type Ii
Stillbirth, Increased intervertebral space, Scoliosis, Horizontal sacrum, Flat acetabular roof, M... OMIM:256050
Opsismodysplasia
Disproportionate short-limb short stature, Flat acetabular roof, Short metacarpal, Hypoplastic ve... OMIM:258480
Brain Malformation-Congenital Heart Disease-Postaxial Polydactyly Syndrome
Nail dystrophy, Abnormality of the anterior pituitary, Brittle hair, Everted lower lip vermilion,... ORPHA:75389
Non-24-Hour Sleep-Wake Syndrome
Abnormal pineal melatonin secretion ORPHA:73267
Ganglioneuroma
Gastrointestinal hemorrhage, Abnormality of the adrenal glands, Colorectal polyposis, Multiple in... ORPHA:251992
Focal Facial Dermal Dysplasia 3, Setleis Type
Distichiasis, Anal atresia, Thick upper lip vermilion, Low anterior hairline, Sparse hair, Absent... OMIM:227260
Ehlers-Danlos Syndrome, Classic Type, 1
Recurrent lower respiratory tract infections, Joint dislocation, Inguinal hernia, Bowel diverticu... OMIM:130000
Pulmonary Arteriovenous Malformation
Ischemic stroke, Abnormal bleeding, Myocardial infarction, Gastrointestinal infarctions, Liver ab... ORPHA:2038
Gastrointestinal Defects And Immunodeficiency Syndrome 1
Intestinal obstruction, Impaired lymphocyte transformation with phytohemagglutinin, Intestinal ma... OMIM:243150
Perlman Syndrome
Retrognathia, High, narrow palate, Hyperinsulinemia, Hepatomegaly, Abnormal pancreas morphology, ... ORPHA:2849
Microcephaly-Corpus Callosum Hypoplasia-Intellectual Disability-Facial Dysmorphism Syndrome
Unilateral renal agenesis, Hypoplastic aortic arch, Inguinal hernia, Facial hypotonia, Optic nerv... ORPHA:457284
Seckel Syndrome 2
Ectopic kidney, Hypospadias, Microdontia, Short stature, Growth delay, Micrognathia, Microglossia... OMIM:606744
Intellectual Developmental Disorder With Dysmorphic Facies, Seizures, And Distal Limb Anomalies
Retrognathia, Sacral dimple, Ventriculomegaly, Highly arched eyebrow, Scoliosis, High palate, Int... OMIM:617452
Stormorken-Sjaastad-Langslet Syndrome
Short stature, Purpura, Anemia, Asplenia ORPHA:3204
Lower Limb Malformation-Hypospadias Syndrome
Sacral dimple, Hypospadias, Abnormality of the ureter, Abnormality of the spleen, Short neck ORPHA:2487
Dental Anomalies And Short Stature
Amelogenesis imperfecta, Widely spaced teeth, Intervertebral space narrowing, Mandibular prognath... OMIM:601216
Holoprosencephaly 11
Synophrys, Cleft palate, Thick eyebrow, Holoprosencephaly, Agenesis of corpus callosum, Cleft lip... OMIM:614226
Tatton-Brown-Rahman Syndrome
Talipes valgus, Thin vermilion border, Everted upper lip vermilion, Patellar subluxation, Optic n... OMIM:615879
Craniofacioskeletal Syndrome
Barrel-shaped chest, Short philtrum, Hypospadias, Interrupted aortic arch, Short foot, Intrauteri... OMIM:300712
Adams-Oliver Syndrome 4
Aplasia of the distal phalanges of the toes, Absent middle phalanx of the 3rd toe, Aplasia of the... OMIM:615297
Cartilage-Hair Hypoplasia
Abnormal bone ossification, Biconvex vertebral bodies, Disproportionate short-limb short stature,... ORPHA:175
Corpus Callosum, Agenesis Of, With Facial Anomalies And Robin Sequence
Hypospadias, Narrow chest, Tracheomalacia, Wide anterior fontanel, Cardiomyopathy, Short palm, Do... OMIM:217980
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly
Enlarged kidney, Short ribs, Absent tibia, Intestinal malrotation, Thoracic hypoplasia, Hypoplasi... OMIM:613091
Pyle Disease
Limited elbow extension, Reduced bone mineral density, Cubitus valgus, Genu valgum, Delayed erupt... OMIM:265900
Hydrocephalus, Congenital, 3, With Brain Anomalies
Polyhydramnios, Hydranencephaly, Hydrocephalus, Dandy-Walker malformation, Holoprosencephaly, Ven... OMIM:617967
Microcephaly-Cervical Spine Fusion Anomalies Syndrome
Abnormal clavicle morphology, Fused cervical vertebrae, Hypospadias, Hyperlordosis, Pectus excava... ORPHA:2522
Noonan Syndrome 13
Highly arched eyebrow, Enlarged thorax, Microdontia, Low posterior hairline, Wide mouth, Bruising... OMIM:619087
Gabriele-De Vries Syndrome
Frontal upsweep of hair, Thick lower lip vermilion, Facial hypotonia, Patent foramen ovale, High ... OMIM:617557
Microphthalmia/Coloboma 5
Orofacial cleft, Holoprosencephaly, Chorioretinal coloboma, Iris coloboma OMIM:611638
Laubry-Pezzi Syndrome
Elevated pulmonary artery pressure, Congestive heart failure, Perimembranous ventricular septal d... ORPHA:99094
Hartsfield Syndrome
Encephalocele, Non-midline cleft of the upper lip, Lobar holoprosencephaly, Cleft palate, Aplasia... ORPHA:2117
Klippel-Feil Syndrome 2, Autosomal Recessive
Fused cervical vertebrae, Cervical C2/C3 vertebral fusion, Scoliosis, Low posterior hairline, Cle... OMIM:214300
Marfan Syndrome
Retrognathia, Limited elbow movement, Reduced bone mineral density, Spondylolisthesis, Dental cro... ORPHA:558
Marfanoid Habitus With Situs Inversus
Situs inversus totalis, Aortic regurgitation, Aortic root aneurysm, Pectus carinatum, Mandibular ... OMIM:609008
Pulmonary Capillary Hemangiomatosis
Elevated pulmonary artery pressure, Pulmonary edema, Pulmonary capillary hemangiomatosis, Mediast... ORPHA:199241
Genitopatellar Syndrome
Colpocephaly, Dysphagia, Malrotation of small bowel, Patellar dislocation, Scoliosis, Radioulnar ... OMIM:606170
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 1
Microdontia, Ureterocele, Sparse axillary hair, Sparse hair, Decreased response to growth hormone... OMIM:129900
Hirschsprung Disease With Hypoplastic Nails And Dysmorphic Facial Features
Inguinal hernia, Aganglionic megacolon, Hydronephrosis, Anal atresia OMIM:235760
Ring Chromosome 7 Syndrome
Highly arched eyebrow, Severe intrauterine growth retardation, Bifid uvula, Hypogonadism, Heart m... ORPHA:1449
Matthew-Wood Syndrome
Congenital diaphragmatic hernia, Annular pancreas, Aplasia/Hypoplasia of the pancreas, Vesicouret... ORPHA:2470
Johanson-Blizzard Syndrome
Hypoplasia of the primary teeth, Primary hypothyroidism, Severe intrauterine growth retardation, ... OMIM:243800
Neurodevelopmental Disorder With Intracranial Hemorrhage, Seizures, And Spasticity
Retinal arterial tortuosity, Highly arched eyebrow, Everted lower lip vermilion, Pectus excavatum... OMIM:620371
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 4
Everted upper lip vermilion, Dilation of Virchow-Robin spaces, Unilateral renal agenesis, Short p... OMIM:619951
Chromosome 5Q12 Deletion Syndrome
Postnatal growth retardation, Sacral dimple, Short philtrum, Patent foramen ovale, Hypotension, I... OMIM:615668
Silver-Russell Syndrome Due To Maternal Uniparental Disomy Of Chromosome 7
Dental crowding, Severe intrauterine growth retardation, Microdontia, Delayed skeletal maturation... ORPHA:96182
Slc35A2-Cdg
Osteopenia, Elevated circulating thyroid-stimulating hormone concentration, Hip subluxation, Tran... ORPHA:356961
Cerebellar-Facial-Dental Syndrome
Delayed skeletal maturation, Severe short stature, Mitral valve prolapse, Sparse hair, Long philt... ORPHA:444072
Fragile X Syndrome
Gastroesophageal reflux, Mandibular prognathia, Ascending tubular aorta aneurysm, Scoliosis, Sinu... ORPHA:908
Diamond-Blackfan Anemia 11
Hypoplasia of the ulna, Hypoplasia of the radius, Unilateral renal agenesis, Bilateral cleft pala... OMIM:614900
Stevenson-Carey Syndrome
Left superior vena cava draining to coronary sinus, Gastroesophageal reflux, Recurrent urinary tr... OMIM:611961
Currarino Syndrome
Perianal abscess, Anal stenosis, Vascular dilatation, Urinary incontinence, Rectovaginal fistula,... OMIM:176450
Degcags Syndrome
Premature graying of hair, Retrognathia, Cholestasis, Abnormal spleen morphology, Low posterior h... OMIM:619488
Isolated Right Ventricular Hypoplasia
Abnormal atrioventricular conduction, Congestive heart failure, Muscular ventricular septal defec... ORPHA:439
Potocki-Lupski Syndrome
Dental malocclusion, Oral-pharyngeal dysphagia, Gastroesophageal reflux, Dental crowding, Mandibu... OMIM:610883
Thoracoabdominal Syndrome
Congenital diaphragmatic hernia, Ectopia cordis, Transposition of the great arteries, Ventral her... OMIM:313850
Joubert Syndrome 14
Optic atrophy, Short philtrum, Encephalocele, Meningocele, Hydrocephalus, Coloboma, Hypertension,... OMIM:614424
Microcephaly With Cervical Spine Fusion Anomalies
Short stature, Spinal instability, Vertebral fusion OMIM:251250
Glomuvenous Malformation
Gastrointestinal arteriovenous malformation, Venous malformation, Arteriovenous malformation, Abn... ORPHA:83454
Odontochondrodysplasia 1
Biconvex vertebral bodies, Pectus carinatum, Delayed ossification of carpal bones, Flat acetabula... OMIM:184260
Kniest Dysplasia
Joint stiffness, Flexion contracture of finger, Delayed patellar ossification, Short thorax, Apla... ORPHA:485
Epidermolysis Bullosa With Diaphragmatic Hernia
Congenital diaphragmatic hernia, Neonatal death OMIM:226735
Spondyloepiphyseal Dysplasia Tarda, Autosomal Recessive, Leroy-Spranger Type
Genu valgum, Intervertebral space narrowing, Pectus carinatum, Scoliosis, Thoracic kyphosis, Decr... OMIM:609223
Deafness, Onychodystrophy, Osteodystrophy, Impaired Intellectual Development, And Seizures Syndrome
Everted lower lip vermilion, Short distal phalanx of finger, Ventriculomegaly, Long philtrum, Sho... OMIM:220500
Thiamine-Responsive Megaloblastic Anemia Syndrome
Optic atrophy, Situs inversus totalis, Gastroesophageal reflux, Stroke, Cardiomyopathy, Cryptorch... OMIM:249270
Ventricular Septal Defect 2
Perimembranous ventricular septal defect OMIM:614431
Cutis Laxa, Autosomal Recessive, Type Iic
Kyphoscoliosis, Dental crowding, Nephrocalcinosis, Mitral valve prolapse, Long philtrum, Joint hy... OMIM:617402
15Q Overgrowth Syndrome
Retrognathia, Dental crowding, Abnormality of the incisor, Abnormal sternum morphology, Abnormal ... ORPHA:314585
Agenesis Of Corpus Callosum, Cardiac, Ocular, And Genital Syndrome
Atrioventricular canal defect, Dextrocardia, Short philtrum, High palate, Tricuspid regurgitation... OMIM:618929
Lateral Meningocele Syndrome
Abnormal form of the vertebral bodies, Dental crowding, Hyperlordosis, Pectus excavatum, Kyphosis... ORPHA:2789
Branchiootorenal Syndrome 1
Euthyroid goiter, Renal steatosis, Abnormal renal collecting system morphology, Unilateral renal ... OMIM:113650
Pcna-Related Progressive Neurodegenerative Photosensitivity Syndrome
Congenital diaphragmatic hernia, Retinal telangiectasia, Short stature, Absent pubertal growth sp... ORPHA:438134
Mucopolysaccharidosis Type 3
Reduced bone mineral density, Abnormal form of the vertebral bodies, Joint stiffness, Abnormal mi... ORPHA:581
Cheilitis Glandularis
Abnormal salivary gland morphology, Thick lower lip vermilion ORPHA:1221
Neurodevelopmental Disorder With Hypotonia, Facial Dysmorphism, And Brain Abnormalities
Optic atrophy, Hepatomegaly, Recurrent respiratory infections, Facial hirsutism, Pectus carinatum... OMIM:619383
Mental retardation, x-linked, syndromic, Turner type
Limited elbow extension, Holoprosencephaly, Macroorchidism OMIM:300706
Contractures-Developmental Delay-Pierre Robin Syndrome
High, narrow palate, Hypospadias, Inguinal hernia, Glossoptosis, Wrist flexion contracture, Thora... ORPHA:436003
Pseudoachondroplasia
Disproportionate short-limb short stature, Abnormal form of the vertebral bodies, Increased laxit... ORPHA:750
Pituitary Stalk Interruption Syndrome
Delayed puberty, Diabetes insipidus, Hypoplasia of penis, Adrenal hypoplasia, Septo-optic dysplas... ORPHA:95496
Neutral Lipid Storage Myopathy
Congestive heart failure, Generalized limb muscle atrophy, Pelvic girdle muscle weakness, Chronic... ORPHA:98908
Orofaciodigital Syndrome Xvii
Retrognathia, High, narrow palate, Ventriculomegaly, Prominent metopic ridge, Short stature, Rena... OMIM:617926
Bohring-Opitz Syndrome
Retrognathia, Bradycardia, Pectus excavatum, Lower limb hypertonia, Cardiomegaly, Intrauterine gr... ORPHA:97297
Multiple Endocrine Neoplasia, Type Iib
High, narrow palate, Aganglionic megacolon, Thick lower lip vermilion, Pheochromocytoma, Scoliosi... OMIM:162300
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome
Abnormal renal morphology, Ascites, Splenomegaly, Ventriculomegaly, Alveolar ridge overgrowth, In... ORPHA:1655
Kaposiform Lymphangiomatosis
Enlarged kidney, Abnormal form of the vertebral bodies, Abnormal spleen morphology, Lymphangioma,... ORPHA:464329
Congenital Rubella Syndrome
Jaundice, Hepatomegaly, Anemia, Short stature, Type I diabetes mellitus, Thrombocytopenia, Spleno... ORPHA:290
Ciliary Dyskinesia, Primary, 52
Situs inversus totalis, Transposition of the great arteries, Patent ductus arteriosus, Recurrent ... OMIM:620570
Vissers-Bodmer Syndrome
Short stature, Holoprosencephaly, Intrauterine growth retardation OMIM:619033
Rhizomelic Chondrodysplasia Punctata, Type 2
Osteopenia, Disproportionate short stature, Rhizomelia, Inguinal hernia, Epiphyseal stippling, Op... OMIM:222765
Noonan Syndrome 4
Ureteral duplication, Abnormal sternum morphology, Pectus excavatum, Pulmonic stenosis, Delayed s... OMIM:610733
Smith-Magenis Syndrome
Delayed puberty, Renal hypoplasia/aplasia, Abnormal form of the vertebral bodies, Joint stiffness... ORPHA:819
Saul-Wilson Syndrome
Postnatal growth retardation, Madelung deformity, Short metatarsal, Pectus carinatum, Wide anteri... OMIM:618150
Distal Xq28 Microduplication Syndrome
Aplasia/Hypoplasia of the eyebrow, Thick lower lip vermilion, Predominantly lower limb lymphedema... ORPHA:293939
Suleiman-El-Hattab Syndrome
Highly arched eyebrow, Wide mouth, Long philtrum, Inguinal hernia, Patent foramen ovale, Hirsutis... OMIM:618950
Hajdu-Cheney Syndrome
Kyphoscoliosis, Dislocated radial head, Intestinal malrotation, Biconcave vertebral bodies, Crowd... OMIM:102500
Keratoconus Posticus Circumscriptus
Recurrent urinary tract infections, Limited elbow extension and supination, Vesicoureteral reflux... OMIM:244600
Atrioventricular Septal Defect 4
Primum atrial septal defect OMIM:614430
Frontometaphyseal Dysplasia
Limited elbow movement, Limitation of knee mobility, Dislocated radial head, Wrist flexion contra... ORPHA:1826
Craniosynostosis-Anal Anomalies-Porokeratosis Syndrome
Kyphosis, Delayed skeletal maturation, Wide mouth, Aplastic clavicle, Abnormal clavicle morpholog... ORPHA:85199
Immunoskeletal Dysplasia With Neurodevelopmental Abnormalities
Kyphoscoliosis, Disproportionate short stature, Platyspondyly, Dislocated radial head, Cervical i... OMIM:617425
Chromosome 6Q24-Q25 Deletion Syndrome
Low posterior hairline, Mitral valve prolapse, Dysplastic tricuspid valve, Intrauterine growth re... OMIM:612863
Orofaciodigital Syndrome Type 4
Retrognathia, Renal hypoplasia/aplasia, Abnormal oral frenulum morphology, Bifid uvula, Severe sh... ORPHA:2753
Multiple Endocrine Neoplasia Type 1
Hematemesis, Duodenal ulcer, Adrenocortical abnormality, Neoplasm of the pancreas, Reduced bone m... ORPHA:652
Neurodevelopmental Disorder With Craniofacial Dysmorphism And Skeletal Defects
Retrognathia, Highly arched eyebrow, Dental crowding, Pectus carinatum, Colpocephaly, Congenital ... OMIM:620083
Brachyolmia Type 1, Hobaek Type
Squared-off platyspondyly, Osteopenia, Lumbar hypolordosis, Intervertebral space narrowing, Pectu... OMIM:271530
Spondylometaphyseal Dysplasia, X-Linked
Short finger, Platyspondyly, Pectus carinatum, Hyperextensibility of the finger joints, Kyphosis,... OMIM:313420
Craniometadiaphyseal Osteosclerosis With Hip Dysplasia
Cephalohematoma, Sandwich appearance of vertebral bodies, Increased bone mineral density, Ectopic... OMIM:620558
Premature Aging Syndrome, Penttinen Type
Lipoatrophy, Retrognathia, Delayed skeletal maturation, Flexion contracture of finger, Sparse hai... OMIM:601812
Cutis Laxa, Neonatal, With Marfanoid Phenotype
Congenital diaphragmatic hernia, Abnormal heart morphology, Emphysema, Hip dislocation OMIM:614100
Cardiofaciocutaneous Syndrome 1
Pectus carinatum, Pectus excavatum, Low posterior hairline, Pulmonic stenosis, Delayed skeletal m... OMIM:115150
Atelosteogenesis Type I
Absent or minimally ossified vertebral bodies, Polyhydramnios, Abnormal pancreatic duct morpholog... ORPHA:1190
Richieri Costa-Da Silva Syndrome
Kyphoscoliosis, Beaking of vertebral bodies, Distal lower limb muscle weakness, Genu valgum, Gene... ORPHA:3101
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly
Disproportionate shortening of the tibia, Pectus carinatum, Short ribs, Intestinal malrotation, M... OMIM:263520
C Syndrome
Congenital diaphragmatic hernia, Renal hypoplasia/aplasia, Dislocated radial head, Pectus excavat... ORPHA:1308
Blomstrand Lethal Chondrodysplasia
Broad clavicles, Short ribs, Short metacarpal, Accelerated skeletal maturation, Mesomelia, Long p... ORPHA:50945
Intellectual Disability-Coarse Face-Macrocephaly-Cerebellar Hypotrophy Syndrome
Kyphoscoliosis, Oligosacchariduria, Palpebral edema, Facial hypertrichosis, Dental crowding, Pect... ORPHA:397709
Alg9-Cdg
Abnormal bone ossification, Enlarged kidney, Hypoplasia of the ovary, Low posterior hairline, Abn... ORPHA:79328
Occipital Horn Syndrome
Pectus carinatum, Broad clavicles, Pectus excavatum, Kyphosis, Limited knee extension, Persistent... OMIM:304150
Progressive Spondyloepimetaphyseal Dysplasia-Short Stature-Short Fourth Metatarsals-Intellectual Disability Syndrome
Kyphoscoliosis, Abnormal sternum morphology, Hyperlordosis, Short metacarpal, Delayed skeletal ma... ORPHA:457395
Salivary Gland Adenoma, Pleomorphic
Salivary gland neoplasm OMIM:181030
Neutropenia, Severe Congenital, 4, Autosomal Recessive
Perianal abscess, Pectus carinatum, Pulmonic stenosis, Leukopenia, Splenomegaly, Lymphopenia, Myo... OMIM:612541
Holoprosencephaly 7
Solitary median maxillary central incisor, Bilateral cleft palate, Unilateral cleft lip, Hypoplas... OMIM:610828
Marfanoid-Progeroid-Lipodystrophy Syndrome
Lipoatrophy, Retrognathia, High, narrow palate, Generalized lipodystrophy, Narrow chest, Aortic r... OMIM:616914
Coffin-Siris Syndrome 6
Kyphoscoliosis, Retrognathia, High, narrow palate, Short philtrum, Gastroesophageal reflux, Pectu... OMIM:617808
Mosaic Variegated Aneuploidy Syndrome 1
Pulmonic stenosis, Long philtrum, Intrauterine growth retardation, Ventriculomegaly, Oligohydramn... OMIM:257300
Mucopolysaccharidosis Type 2
Temporomandibular joint ankylosis, Cardiomyopathy, Hypertension, Abnormal epiphyseal ossification... ORPHA:580
Noonan Syndrome 8
Polyhydramnios, Patent ductus arteriosus, Abnormal sternum morphology, Pleural effusion, Hypertro... OMIM:615355
Intrahepatic Cholestasis Of Pregnancy
Abnormal pineal melatonin secretion, Jaundice, Ascites, Hypothyroidism, Cholecystitis, Abnormalit... ORPHA:69665
Hearing Loss-Familial Salivary Gland Insensitivity To Aldosterone Syndrome
Abnormal salivary gland morphology ORPHA:3225
Sarcoidosis, Susceptibility To, 1
Enlarged lacrimal glands, Abnormal pulmonary interstitial morphology, Abnormal salivary gland mor... OMIM:181000
Sotos Syndrome
Ureteral duplication, Pectus excavatum, Kyphosis, Agenesis of permanent teeth, Accelerated skelet... ORPHA:821
Spondyloepiphyseal Dysplasia, Stanescu Type
Kyphoscoliosis, Beaking of vertebral bodies, Stiff neck, Vertebral wedging, Joint stiffness, Shor... OMIM:616583
Histiocytosis-Lymphadenopathy Plus Syndrome
Retrognathia, Flexion contracture of toe, Joint contracture of the 5th finger, Pulmonic stenosis,... OMIM:602782
Pelvis-Shoulder Dysplasia
Aplasia/hypoplasia of the femur, Abnormal form of the vertebral bodies, Dislocated radial head, A... ORPHA:2839
8P11.2 Deletion Syndrome
Sacral dimple, Hypoplasia of penis, Spherocytosis, High palate, Abnormality of the hypothalamus-p... ORPHA:251066
Neurodevelopmental Disorder With Ataxia, Hypotonia, And Microcephaly
Dysplastic corpus callosum, Short 4th metacarpal, Muscular ventricular septal defect, Hypothyroid... OMIM:618569
Autosomal Dominant Intellectual Disability-Craniofacial Anomalies-Cardiac Defects Syndrome
Optic atrophy, Gastroesophageal reflux, Cryptorchidism, Intestinal malrotation, Short stature, Do... ORPHA:457193
Congenital Hypothyroidism Due To Maternal Intake Of Antithyroid Drugs
Elevated circulating thyroid-stimulating hormone concentration, Delayed epiphyseal ossification, ... ORPHA:226313
Spondylometaphyseal Dysplasia, Type A4
Costochondral joint sclerosis, Enlargement of the costochondral junction, Disproportionate short-... OMIM:609052
Neurodevelopmental Disorder With Growth Retardation, Dysmorphic Facies, And Corpus Callosum Abnormalities
Postnatal growth retardation, Retrognathia, Medial flaring of the eyebrow, Broad eyebrow, Patent ... OMIM:620113
Occipital Horn Syndrome
Pectus carinatum, Cholestasis, Pectus excavatum, Kyphosis, Absent tibia, Dysphagia, Aplasia/hypop... ORPHA:198
19P13.12 Microdeletion Syndrome
Kyphosis, Long philtrum, Craniosynostosis, Intrauterine growth retardation, Ventriculomegaly, Hep... ORPHA:254346
Diaphragmatic Hernia 5, X-Linked
Congenital diaphragmatic hernia, Neonatal death OMIM:306950
Aarskog-Scott Syndrome
Delayed puberty, Pectus excavatum, Elevated circulating luteinizing hormone level, Broad philtrum... OMIM:305400
Mend Syndrome
Sacral dimple, Hydrocephalus, Dandy-Walker malformation, High palate, Kyphosis, Aortic valve sten... OMIM:300960
Lambotte Syndrome
Retrognathia, Semilobar holoprosencephaly, Narrow mouth, Intrauterine growth retardation, Ventric... OMIM:245552
Congenital Disorder Of Glycosylation With Defective Fucosylation 1
Kyphoscoliosis, Retrognathia, Osteopenia, Polyhydramnios, Neutropenia, Recurrent lower respirator... OMIM:618005
Microcephaly-Capillary Malformation Syndrome
Optic atrophy, Patent foramen ovale, Vesicoureteral reflux, Hypoplasia of the maxilla, Short stat... OMIM:614261
Short Stature-Craniofacial Anomalies-Genital Hypoplasia Syndrome
Delayed puberty, Ectopic anus, Limitation of joint mobility, Abnormality of the dentition, Hypoth... ORPHA:2994
Cranioectodermal Dysplasia 2
Retrognathia, Portal fibrosis, Short ribs, Hypertension, Everted lower lip vermilion, Microdontia... OMIM:613610
Myhre Syndrome
Gingival cleft, Hypertension, Joint stiffness, Bifid uvula, Unilateral cleft lip, Severe short st... ORPHA:2588
Alagille Syndrome 1
Cholestasis, Prolonged neonatal jaundice, Short distal phalanx of finger, Stage 5 chronic kidney ... OMIM:118450
Blepharocheilodontic Syndrome 1
High anterior hairline, Neural tube defect, Conical tooth, Anal atresia, Distichiasis, Cleft uppe... OMIM:119580
Impaired Intellectual Development And Distinctive Facial Features With Or Without Cardiac Defects
Transposition of the great arteries, Patent foramen ovale, Coloboma, Everted lower lip vermilion,... OMIM:616789
Atelosteogenesis Type Ii
Bilateral cleft palate, Tracheobronchomalacia, Short ribs, Short metacarpal, Short lower limbs, T... ORPHA:56304
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome
Pectus excavatum, Delayed skeletal maturation, Abnormal heart morphology, Nephrocalcinosis, Joint... ORPHA:369837
Mucopolysaccharidosis Type 4
Reduced bone mineral density, Pectus carinatum, Hyperlordosis, Kyphosis, Delayed skeletal maturat... ORPHA:582
Khan-Khan-Katsanis Syndrome
Ureteral duplication, Highly arched eyebrow, Colpocephaly, Dysphagia, Lymphopenia, Intrauterine g... OMIM:618460
Cerebrofacioarticular Syndrome
Osteopenia, Dysplastic corpus callosum, Caudal appendage, Anal stenosis, Hypospadias, Tracheomala... ORPHA:314679
Lathosterolosis
Bilobate gallbladder, Butterfly vertebrae, Anisopoikilocytosis, Intrahepatic cholestasis, Lumbosa... OMIM:607330
Phocomelia, Schinzel Type
Aplasia/Hypoplasia of the sacrum, High, narrow palate, Hypoplasia of the radius, Fibular aplasia,... ORPHA:2879
Hereditary Continuous Muscle Fiber Activity
Congenital diaphragmatic hernia, Type 1 muscle fiber predominance ORPHA:972
Marden-Walker Syndrome
Retrognathia, Renal hypoplasia/aplasia, Abnormal form of the vertebral bodies, Pectus carinatum, ... ORPHA:2461
Cataracts, Growth Hormone Deficiency, Sensory Neuropathy, Sensorineural Hearing Loss, And Skeletal Dysplasia
Hyperlordosis, Long philtrum, Joint hypermobility, Central adrenal insufficiency, Hip dislocation... OMIM:616007
Neurodevelopmental Disorder With Hypotonia, Craniofacial Abnormalities, And Seizures
Broad jaw, Exaggerated cupid's bow, High palate, Aortic valve stenosis, Short palm, Micrognathia,... OMIM:614501
Genitourinary And/Or Brain Malformation Syndrome
Ileal atresia, Kyphoscoliosis, Dysplastic corpus callosum, Hypospadias, Streak ovary, Urogenital ... OMIM:618820
2Q31.1 Microdeletion Syndrome
Everted lower lip vermilion, Kyphosis, Delayed skeletal maturation, Long philtrum, Ventriculomega... ORPHA:251014
Spondyloepimetaphyseal Dysplasia, X-Linked, With Hypomyelinating Leukodystrophy
Kyphoscoliosis, Short finger, Platyspondyly, Thin ribs, Thoracic kyphosis, High palate, Prominent... OMIM:300232
Humero-Radio-Ulnar Synostosis
Aplasia/Hypoplasia of the thumb, Abnormality of the upper urinary tract, Abnormality of the urete... ORPHA:3266
Pediatric-Onset Graves Disease
Increased circulating T4 concentration, Congestive heart failure, Increased circulating free T3, ... ORPHA:525731
Brachyolmia, Maroteaux Type
Abnormal form of the vertebral bodies, Short thorax, Scoliosis, Pectus excavatum, Short stature, ... ORPHA:93302
Short-Rib Thoracic Dysplasia 15 With Polydactyly
Supernumerary tooth, Atrioventricular canal defect, Aplasia of the epiglottis, Hepatomegaly, Narr... OMIM:617088
Generalized Arterial Calcification Of Infancy
Calcification of the aorta, Ventricular hypertrophy, Hypertension, Ascites, Nephrocalcinosis, Pan... ORPHA:51608
Global Developmental Delay With Speech And Behavioral Abnormalities
Inguinal hernia, Anal atresia, Precocious puberty, Micrognathia, Joint hypermobility, Cryptorchid... OMIM:619243
Aspergillosis
Abnormality of the kidney, Hypersensitivity pneumonitis, Abnormality of the vertebral column, Ple... ORPHA:1163
Hereditary Persistence Of Fetal Hemoglobin-Sickle Cell Disease Syndrome
Hypochromic microcytic anemia, HbS hemoglobin, Splenic infarction, Persistence of hemoglobin F, R... ORPHA:251380
Cebalid Syndrome
Congenital diaphragmatic hernia, High palate, Highly arched eyebrow, Thick eyebrow OMIM:618774
Asplenia, Isolated Congenital
Howell-Jolly bodies, Thrombocytosis, Asplenia OMIM:271400
Cardiomyopathy, Dilated, 2D
Muscular ventricular septal defect, Reduced left ventricular ejection fraction, Patent foramen ov... OMIM:619371
Early-Onset Seizures-Distal Limb Anomalies-Facial Dysmorphism-Global Developmental Delay Syndrome
Retrognathia, Sacral dimple, Ventriculomegaly, Highly arched eyebrow, Hyperextensibility of the f... ORPHA:505237
Stickler Syndrome Type 1
Platyspondyly, Abnormal vertebral epiphysis morphology, Hypoplasia of the maxilla, Cleft palate, ... ORPHA:90653
Intellectual Developmental Disorder, Autosomal Dominant 66
Transposition of the great arteries, Aortic root aneurysm, Pectus carinatum, Scoliosis, Pectus ex... OMIM:619910
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy
Impaired lymphocyte transformation with phytohemagglutinin, B lymphocytopenia, Restrictive cardio... OMIM:619313
Atypical Werner Syndrome
Delayed puberty, Lipoatrophy, Premature graying of hair, Reduced bone mineral density, Calf muscl... ORPHA:79474
Noonan Syndrome 9
Prolonged prothrombin time, Hydroureter, Cryptorchidism, Pulmonic stenosis, Short stature, Coarct... OMIM:616559
Igg4-Related Ophthalmic Disease
Abnormality of infra-orbital nerve, Palpebral edema, Sinusitis, Enlarged lacrimal glands, Abnorma... ORPHA:449563
Congenital Heart Defects, Multiple Types, 4
Atrioventricular canal defect, Left ventricular outflow tract obstruction, Aortic valve stenosis,... OMIM:615779
Cardioneuromyopathy With Hyaline Masses And Nemaline Rods
Widening of cervical spinal canal, Fusion of midcervical facet joints, Cardiomyopathy, Nemaline b... OMIM:606842
Giant Axonal Neuropathy
Genu valgum, Pili canaliculi, Scoliosis, Abnormal pituitary gland morphology, Facial palsy, Diffu... ORPHA:643
Costello Syndrome
Limited elbow movement, Rhabdomyosarcoma, Pectus carinatum, Pulmonic stenosis, Mitral valve prola... OMIM:218040
Hirschsprung Disease, Cardiac Defects, And Autonomic Dysfunction
Aganglionic megacolon, Hypertension, Abnormal autonomic nervous system physiology, Flexion contra... OMIM:613870
Craniosynostosis 4
Retrognathia, Lambdoidal craniosynostosis, Bicoronal synostosis, Optic nerve hypoplasia, Coronal ... OMIM:600775
Cdags Syndrome
Rectourethral fistula, Lambdoidal craniosynostosis, Hypospadias, Rectovaginal fistula, Short clav... OMIM:603116
Bone Fragility With Contractures, Arterial Rupture, And Deafness
Osteopenia, Postnatal growth retardation, Coarse hair, Platyspondyly, Ventriculomegaly, Scoliosis... OMIM:612394
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 2
Kyphoscoliosis, Increased susceptibility to fractures, Osteopenia, Platyspondyly, Aortic root ane... OMIM:615349
Holoprosencephaly 2
Solitary median maxillary central incisor, Bilateral cleft palate, Bifid uvula, Bilateral cleft l... OMIM:157170
Arrhythmogenic Cardiomyopathy With Variable Ectodermal Abnormalities
Nail dystrophy, Ventricular bigeminy, Myofiber disarray, Bicuspid aortic valve, Patent foramen ov... OMIM:620519
Zimmermann-Laband Syndrome 1
Highly arched eyebrow, Short distal phalanx of toe, Cardiomyopathy, Wide mouth, Splenomegaly, Umb... OMIM:135500
Greenberg Dysplasia
Abnormal bone ossification, Rhizomelia, Narrow chest, Abnormal form of the vertebral bodies, Abno... ORPHA:1426
Diphallia
Ureteral duplication, Bifid penis, Abnormal heart morphology, Absent thumb, Renal malrotation, Pe... ORPHA:227
Bardet-Biedl Syndrome 19
Renal insufficiency, Partial atrioventricular canal defect, Renal hypoplasia, Hydronephrosis, Hyp... OMIM:615996
Spondyloepiphyseal Dysplasia-Craniosynostosis-Cleft Palate-Cataracts-Intellectual Disability Syndrome
Abnormality of cranial sutures, Abnormal bone ossification, Platyspondyly, Narrow chest, Abnormal... ORPHA:163649
Oculocerebrorenal Syndrome Of Lowe
Delayed puberty, Abnormal circulating calcium-phosphate regulating hormone concentration, Cheilit... ORPHA:534
20P12.3 Microdeletion Syndrome
Wolff-Parkinson-White syndrome, Pectus carinatum, Narrow mouth, Hypoplasia of the maxilla, Short ... ORPHA:261295
Neurogenic Thoracic Outlet Syndrome
Abnormal rib morphology ORPHA:100073
Mayer-Rokitansky-Küster-Hauser Syndrome
Abnormality of the kidney, Ectopic kidney, Unilateral renal agenesis, Abnormal form of the verteb... ORPHA:3109
Noonan Syndrome 1
Kyphoscoliosis, Superior pectus carinatum, Abnormal sternum morphology, Low posterior hairline, P... OMIM:163950
Anus, Imperforate
Anal atresia OMIM:207500
Progeroid Short Stature With Pigmented Nevi
Delayed puberty, Hypospadias, Hypodontia, Irregular dentition, Aortic valve stenosis, Esophageal ... OMIM:176690
Chromosome 16P13.3 Duplication Syndrome
Tracheobronchomalacia, Pectus excavatum, Microdontia, Bifid uvula, Wide mouth, Long philtrum, Hip... OMIM:613458
Basel-Vanagaite-Smirin-Yosef Syndrome
Retrognathia, Pectus carinatum, Everted lower lip vermilion, Kyphosis, Sparse hair, Ventriculomeg... OMIM:616449
Thiamine-Responsive Megaloblastic Anemia Syndrome
Optic atrophy, Congestive heart failure, Stroke, Megaloblastic anemia, Cardiac arrest, Short stat... ORPHA:49827
Coffin-Siris Syndrome 4
Everted upper lip vermilion, Pulmonic stenosis, Delayed skeletal maturation, Wide mouth, Intraute... OMIM:614609
Telo2-Related Intellectual Disability-Neurodevelopmental Disorder
Kyphoscoliosis, Annular pancreas, Duplicated collecting system, Congenital bilateral hip dislocat... ORPHA:488642
Yunis-Varon Syndrome
Broad secondary alveolar ridge, Absent sternal ossification, Short ribs, Cardiomyopathy, Glossopt... ORPHA:3472
Fraser Syndrome
Renal hypoplasia/aplasia, Anorectal anomaly, Hypoplasia of penis, Dental crowding, Myelomeningoce... ORPHA:2052
Beta-Mercaptolactate Cysteine Disulfiduria
Genu valgum, High palate, Micromelia, Abnormality of the ureter, Short stature, Umbilical hernia,... ORPHA:1035
Non-Syndromic Posterior Hypospadias
Congenital diaphragmatic hernia, Esophageal atresia, Abnormality of the endocrine system, Androge... ORPHA:95706
Kawasaki Disease
Cheilitis, Pericarditis, Edema, Cholecystitis, Myocarditis, Jaundice, Vasculitis, Ascending tubul... ORPHA:2331
Multiple Sulfatase Deficiency
Hepatomegaly, Hydrocephalus, Mucopolysacchariduria, Short stature, Hypoplastic vertebral bodies, ... OMIM:272200
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency
Delayed puberty, Abnormal ovarian morphology, Proximal tibial and fibular fusion, Abnormal circul... ORPHA:95699
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome
Anemia, Hypospadias, Short philtrum, Hydronephrosis, Interrupted aortic arch, Hyperextensibility ... ORPHA:163979
Homocystinuria Due To Cystathionine Beta-Synthase Deficiency
Kyphoscoliosis, Pancreatitis, Inguinal hernia, Homocystinuria, Brittle hair, Dental crowding, Pec... OMIM:236200
Ellis Van Creveld Syndrome
Renal hypoplasia/aplasia, Microdontia, Abnormal oral frenulum morphology, Delayed skeletal matura... ORPHA:289
Short Stature, Brachydactyly, Impaired Intellectual Development, And Seizures
Retrognathia, Dental crowding, Short metacarpal, Sparse hair, Short distal phalanx of finger, Lon... OMIM:617157
Short Rib-Polydactyly Syndrome, Verma-Naumoff Type
Disproportionate short-limb short stature, Hypoplasia of penis, Short ribs, Urethrovaginal fistul... ORPHA:93271
Alpha-Mannosidosis, Infantile Form
Highly arched eyebrow, Pectus carinatum, Pectus excavatum, Joint stiffness, Umbilical hernia, Joi... ORPHA:309282
Fanconi Anemia, Complementation Group A
Anemia, Ectopic kidney, Duplicated collecting system, Pancytopenia, Abnormal renal morphology, Re... OMIM:227650
Klippel-Feil Syndrome 1, Autosomal Dominant
Abnormality of the kidney, Cervical C2/C3 vertebral fusion, Unilateral renal agenesis, Congenital... OMIM:118100
3M Syndrome
Enlarged thorax, Hyperlordosis, Everted lower lip vermilion, Kyphosis, Delayed skeletal maturatio... ORPHA:2616
Cardiofaciocutaneous Syndrome
Sparse or absent eyelashes, Pectus excavatum, Low posterior hairline, Pulmonic stenosis, Sparse h... ORPHA:1340
Anauxetic Dysplasia 1
Delayed ossification of carpal bones, Microdontia, Aortic valve stenosis, Severe short stature, J... OMIM:607095
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria
3-Methylglutaconic aciduria, Short humerus, Hepatic steatosis, Hypospadias, Patent foramen ovale,... ORPHA:17
Congenital Osteogenesis Imperfecta-Microcephaly-Cataracts Syndrome
Disproportionate short-limb short stature, Hypoplasia of penis, Ventricular septal defect, Intrau... ORPHA:2772
Weill-Marchesani Syndrome 1
Narrow palate, Tooth malposition, Scoliosis, Proportionate short stature, Hypoplasia of the maxil... OMIM:277600
Achondrogenesis Type 1B
Disproportionate short stature, Hydrops fetalis, Polyhydramnios, Narrow chest, Short thorax, Abno... ORPHA:93298
Atelis Syndrome 1
Lumbar kyphosis, Anemia, High palate, Bronchiectasis, Hypothyroidism, Carious teeth, Leukopenia, ... OMIM:620184
Metaphyseal Dysplasia With Maxillary Hypoplasia With Or Without Brachydactyly
Thin vermilion border, Short philtrum, Premature loss of teeth, Short middle phalanx of the 5th f... OMIM:156510
Oculoskeletodental Syndrome
Abnormal sternum morphology, Low posterior hairline, Delayed skeletal maturation, Thoracic hypopl... OMIM:618440
Teebi Hypertelorism Syndrome 1
Aortic root aneurysm, Dental crowding, Highly arched eyebrow, Widow's peak, Omphalocele, Coronal ... OMIM:145420
Fanconi Anemia, Complementation Group E
Anemia, Ectopic kidney, Duplicated collecting system, Pancytopenia, Reticulocytopenia, Hypergonad... OMIM:600901
Andersen-Tawil Syndrome
Prolonged QT interval, Polymorphic ventricular tachycardia, Prominent U wave, Dental crowding, Pr... ORPHA:37553
Thyroid Dyshormonogenesis 1
Hypothyroidism, Growth delay, Umbilical hernia, Goiter, Macroglossia OMIM:274400
Schizophrenia 1
Ectopic kidney, Renal agenesis, Short stature, Partially duplicated kidney, Short proximal phalan... OMIM:181510
Crouzon Syndrome-Acanthosis Nigricans Syndrome
Optic atrophy, Abnormal palate morphology, Abnormal form of the vertebral bodies, Hydrocephalus, ... ORPHA:93262
Oculoauriculovertebral Spectrum With Radial Defects
Short mandibular rami, Orofacial cleft, Atrioventricular canal defect, Maternal diabetes, Renal h... ORPHA:2549
Microcephaly-Brain Defect-Spasticity-Hypernatremia Syndrome
Holoprosencephaly ORPHA:2523
Severe Intellectual Disability-Epilepsy-Anal Anomalies-Distal Phalangeal Hypoplasia
Short philtrum, Highly arched eyebrow, Mandibular prognathia, Ectopic anus, Aplasia/Hypoplasia of... ORPHA:94066
Abruzzo-Erickson Syndrome
Abnormal palate morphology, Hypospadias, Coloboma, Abnormal localization of kidney, Short stature... ORPHA:921
Vertebral Fusion, Posterior Lumbosacral, With Blepharoptosis
Posterior fusion of lumbosacral vertebrae OMIM:192800
Aredyld Syndrome
Lipoatrophy, Aplasia/Hypoplasia of the eyebrow, Advanced eruption of teeth, Hepatomegaly, Craniof... ORPHA:1133
Opsismodysplasia
Hepatomegaly, Narrow chest, Abnormally ossified vertebrae, Pectus excavatum, Joint stiffness, Del... ORPHA:2746
Congenital Tufting Enteropathy
Cholestatic liver disease, Abnormal large intestinal mucosa morphology, Steatorrhea, Orofacial cl... ORPHA:92050
Cockayne Syndrome Type 3
Premature graying of hair, Cardiomyopathy, Kyphosis, Splenomegaly, Peripheral axonal neuropathy, ... ORPHA:90324
Polymicrogyria With Or Without Vascular-Type Ehlers-Danlos Syndrome
Retrognathia, Thin vermilion border, Vascular dilatation, Short philtrum, Ventriculomegaly, Denta... OMIM:618343
Maxillonasal Dysplasia
Patchy distortion of vertebrae, Mandibular prognathia, Open bite, Scoliosis, Microdontia, Tooth a... ORPHA:1248
Osteogenesis Imperfecta, Type Xiii
Kyphoscoliosis, Reduced bone mineral density, Limitation of knee mobility, Dislocated radial head... OMIM:614856
Turnpenny-Fry Syndrome
Hypoplasia of the primary teeth, Dental crowding, Pectus carinatum, Thoracic kyphoscoliosis, Pect... OMIM:618371
Cartilage-Hair Hypoplasia
Impaired lymphocyte transformation with phytohemagglutinin, Asymmetry of the thorax, Macrocytic a... OMIM:250250
Polydactyly, Postaxial, Type A1
Growth delay, Anal atresia OMIM:174200
Lamb-Shaffer Syndrome
Optic atrophy, Fused cervical vertebrae, Scoliosis, Thoracic kyphosis, Micrognathia, Thick vermil... ORPHA:530983
Intellectual Developmental Disorder, X-Linked 99
Hypospadias, Ectopic kidney, Gastroesophageal reflux, Tracheomalacia, Joint hypermobility, Intrau... OMIM:300919
Crouzon Syndrome
Narrow palate, Optic atrophy, Hydrocephalus, Multiple suture craniosynostosis, Hypoplasia of the ... ORPHA:207
Congenital Anomalies Of Kidney And Urinary Tract 3
Ectopic kidney, Vesicoureteral reflux, Renal hypoplasia, Hydronephrosis, Multicystic kidney dyspl... OMIM:618270
Spondylo-Ocular Syndrome
Thin vermilion border, Platyspondyly, Abnormal intervertebral disk morphology, Facial hypotonia, ... ORPHA:85194
Catel-Manzke Syndrome
Pectus carinatum, Glossoptosis, Pectus excavatum, Short metacarpal, Bifid uvula, Short humerus, U... OMIM:616145
Schneckenbecken Dysplasia
Disproportionate short-limb short stature, Short ribs, Flat acetabular roof, Nonimmune hydrops fe... OMIM:269250
Anaplastic Thyroid Carcinoma
Lymphadenopathy, Anaplastic thyroid carcinoma, Abnormal skeletal muscle morphology, Neoplasm of t... ORPHA:142
Diaphragmatic Hernia, Congenital
Congenital diaphragmatic hernia OMIM:142340
Diaphragmatic Hernia 3
Congenital diaphragmatic hernia OMIM:610187
Meier-Gorlin Syndrome 1
Absent sternal ossification, Pectus carinatum, Short ribs, Microdontia, Delayed skeletal maturati... OMIM:224690
Melnick-Needles Syndrome
Short distal phalanx of finger, Joint hypermobility, Hip dislocation, Abnormal cardiac septum mor... ORPHA:2484
Apert Syndrome
Narrow palate, Optic atrophy, Ovarian neoplasm, Esophageal atresia, Delayed eruption of teeth, Ap... ORPHA:87
Autosomal Dominant Brachyolmia
Kyphoscoliosis, Increased vertebral height, Short thorax, Short stature, Platyspondyly ORPHA:93304
Van Esch-O'Driscoll Syndrome
Retrognathia, Pulmonary valve atresia, Sacral dimple, Esophageal atresia, Spina bifida occulta, S... OMIM:301030
Fanconi Anemia, Complementation Group U
Hypoplasia of the radius, Unilateral facial palsy, Absent scaphoid, Ectopic kidney, Aplasia of th... OMIM:617247
Corpus Callosum, Agenesis Of, With Impaired Intellectual Development, Ocular Coloboma, And Micrognathia
Retrognathia, High palate, Pectus excavatum, Bilateral cryptorchidism, Short stature, Thoracolumb... OMIM:300472
Stuve-Wiedemann Syndrome 1
Flexion contracture of toe, Abnormal autonomic nervous system physiology, Dysphagia, Sparse hair,... OMIM:601559
Brachyolmia Type 1, Toledo Type
Kyphoscoliosis, Squared-off platyspondyly, Abnormal odontoid process morphology, Precocious costo... OMIM:271630
3Mc Syndrome 1
Highly arched eyebrow, Dental crowding, Short 5th finger, Sacral dimple, Cleft palate, Radioulnar... OMIM:257920
Mesoaxial Hexadactyly And Cardiac Malformation
Torticollis, Everted lower lip vermilion, Pulmonic stenosis, Short stature, Patent ductus arterio... OMIM:249670
8Q12 Microduplication Syndrome
Gastroesophageal reflux, Abnormal cranial nerve morphology, Highly arched eyebrow, Vesicoureteral... ORPHA:228399
Diamond-Blackfan Anemia 6
Retrognathia, Macrocytic anemia, Tracheomalacia, Increased mean corpuscular volume, Ventricular h... OMIM:612561
Imagawa-Matsumoto Syndrome
Mandibular prognathia, Camptodactyly, Accelerated skeletal maturation, Agenesis of corpus callosu... OMIM:618786
Van Maldergem Syndrome 2
Joint hypermobility, Short 4th metacarpal, Sacral dimple, Hypospadias, Inguinal hernia, Scoliosis... OMIM:615546
Beaulieu-Boycott-Innes Syndrome
High anterior hairline, Unilateral renal agenesis, Recurrent urinary tract infections, Carious te... OMIM:613680
Pde4D Haploinsufficiency Syndrome
Short metacarpal, Accelerated skeletal maturation, Long philtrum, Joint hypermobility, Intrauteri... ORPHA:439822
Mucopolysaccharidosis, Type X
Broad clavicles, Hyperlordosis, Dermatan sulfate excretion in urine, Aortic valve stenosis, Left ... OMIM:619698
Lethal Hemolytic Anemia-Genital Anomalies Syndrome
Thin vermilion border, Renal hypoplasia/aplasia, Anemia, Hypospadias, Polyhydramnios, Hypoplasia ... ORPHA:1046
Intellectual Developmental Disorder, Autosomal Dominant 52
Cervical C2/C3 vertebral fusion, Short philtrum, Pectus carinatum, High palate, Scapular winging,... OMIM:617796
Spondyloepiphyseal Dysplasia Tarda, Kohn Type
Restricted large joint movement, Abnormal vertebral morphology, Abnormality of the ankle, Short s... ORPHA:163665
Meester-Loeys Syndrome
Pulmonary artery aneurysm, Abnormal sternum morphology, Bifid uvula, Mitral valve prolapse, Umbil... OMIM:300989
Pseudodiastrophic Dysplasia
Rhizomelia, Scoliosis, Camptodactyly, Micrognathia, Hypoplasia of the odontoid process, Severe sh... OMIM:264180
Spondyloepimetaphyseal Dysplasia, Handigodu Type
Hip subluxation, Abnormal intervertebral disk morphology, Hip osteoarthritis, Abnormality of the ... ORPHA:99642
Stüve-Wiedemann Syndrome
Abnormal autonomic nervous system physiology, Flexion contracture of finger, Intrauterine growth ... ORPHA:3206
Orofaciodigital Syndrome Vi
Fibular aplasia, 11 pairs of ribs, Hypothalamic hamartoma, High palate, Renal dysplasia, Short fe... OMIM:277170
Fanconi Anemia, Complementation Group L
Hypoplastic sacrum, Anemia, Esophageal atresia, Unilateral renal agenesis, Hydrocephalus, Anal at... OMIM:614083
Tick-Borne Encephalitis
Limb pain, Stiff neck, Abnormal glossopharyngeal nerve morphology, Abnormal cranial nerve morphol... ORPHA:297
Non-Acquired Panhypopituitarism
Osteopenia, Delayed puberty, Decreased response to growth hormone stimulation test, Absence of se... ORPHA:90695
Autosomal Dominant Spastic Paraplegia Type 10
Dupuytren contracture, Peripheral axonal neuropathy, Scoliosis, Leg muscle stiffness, Urinary urg... ORPHA:100991
Hypo- And Hypermelanotic Cutaneous Macules-Retarded Growth-Intellectual Disability Syndrome
Short stature, Abnormal rib morphology ORPHA:2435
Pseudoxanthoma Elasticum, Forme Fruste
High, narrow palate, Premature occlusive vascular stenosis, Gastrointestinal hemorrhage, Arterios... OMIM:177850
Neurofibroma
Kyphoscoliosis, Peripheral nerve compression, Abnormal biliary tract morphology, Peripheral schwa... ORPHA:252183
Fraser Syndrome 2
Unilateral renal agenesis, Short thorax, Bilateral renal agenesis, Narrow mouth, Hypoplasia of th... OMIM:617666
Hypomandibular Faciocranial Dysostosis
Hypoplasia of the maxilla, Coronal craniosynostosis, Micrognathia, Malar flattening, Optic disc c... OMIM:241310
Culler-Jones Syndrome
Diabetes insipidus, Anterior pituitary hypoplasia, Short stature, Cleft upper lip, Cleft palate, ... OMIM:615849
Hallermann-Streiff Syndrome
Hyperlordosis, Hypertension, Everted lower lip vermilion, Pectus excavatum, Sparse hair, Joint hy... OMIM:234100
Ctcf-Related Neurodevelopmental Disorder
Joint contracture of the 5th finger, Highly arched eyebrow, Microdontia, Prolonged neonatal jaund... ORPHA:363611
Netherton Syndrome
Trichorrhexis nodosa, Emphysema, Ectopic kidney, Abnormal hair morphology, Dehydration, Sparse sc... ORPHA:634
Combined Oxidative Phosphorylation Deficiency 47
Hepatomegaly, Platyspondyly, Dehydration, Short palm, Dysphagia, Long philtrum, Short neck, Crypt... OMIM:618958
Cowden Syndrome
Neoplasm of the thyroid gland, Adenoma sebaceum, Abnormality of the kidney, Abnormal penis morpho... ORPHA:201
Congenital Contractural Arachnodactyly
Congenital kyphoscoliosis, Aortic aneurysm, Scoliosis, High palate, Tracheoesophageal fistula, Co... ORPHA:115
Neu-Laxova Syndrome 1
Swollen lip, Intrauterine growth retardation, Ventriculomegaly, Transposition of the great arteri... OMIM:256520
Insulin-Resistance Syndrome Type B
Biliary cirrhosis, Leukopenia, Fasting hyperinsulinemia, Hyperinsulinemia, Increased serum testos... ORPHA:2298
Solitary Median Maxillary Central Incisor
Decreased response to growth hormone stimulation test, Cyclopia, Solitary median maxillary centra... OMIM:147250
Spondylometaphyseal Dysplasia With Corneal Dystrophy
Beaking of vertebral bodies, Lumbar platyspondyly, Narrow chest, Increased intervertebral space, ... OMIM:618961
Multiple Endocrine Neoplasia Type 2
Kyphoscoliosis, Elevated urinary vanillylmandelic acid, Multiple mucosal neuromas, Pheochromocyto... ORPHA:653
Mass Syndrome
Aortic aneurysm, Pectus carinatum, Scoliosis, Ascending aortic dissection, Mitral valve prolapse OMIM:604308
Congenital Disorder Of Glycosylation, Type Il
Hepatomegaly, Hydrops fetalis, Polycystic kidney dysplasia, Ascites, Kyphosis, Pericardial effusi... OMIM:608776
Secondary Short Bowel Syndrome
Steatorrhea, Aganglionic megacolon, Primary hypothyroidism, Small intestinal dysmotility, Cholest... ORPHA:95427
Neurodevelopmental Disorder With Dysmorphic Facies And Thin Corpus Callosum
Unilateral facial palsy, Atrioventricular canal defect, Torticollis, Gastroesophageal reflux, Cys... OMIM:619480
Thyrocerebrorenal Syndrome
Euthyroid goiter, Abnormality of the musculature of the limbs, Nephritis, Thrombocytopenia, Renal... ORPHA:3327
Proteus-Like Syndrome
Bronchogenic cyst, Venous insufficiency, Genu recurvatum, Hydrocephalus, Mandibular prognathia, O... ORPHA:2969
Intellectual Developmental Disorder, X-Linked, Syndromic, Claes-Jensen Type
Pectus excavatum, Lower limb hypertonia, Short distal phalanx of finger, Furrowed tongue, Short s... OMIM:300534
Blepharo-Cheilo-Odontic Syndrome
Conical tooth, Bilateral cleft palate, Abnormal hair quantity, Anal atresia, Distichiasis, Cariou... ORPHA:1997
Autoimmune Polyendocrine Syndrome, Type Ii
Steatorrhea, Cirrhosis, Iron deficiency anemia, Asplenia, Hypothyroidism, Chronic hepatitis, Prim... OMIM:269200
Stickler Syndrome, Type I
Beaking of vertebral bodies, Platyspondyly, Spondylolisthesis, Arthritis, Scoliosis, Arthropathy,... OMIM:108300
Oxoglutaric Aciduria
Abnormal salivary gland morphology, Hydrocephalus, Short stature, Skeletal muscle atrophy, Abnorm... ORPHA:31
Restrictive Dermopathy 1
Kyphoscoliosis, Ureteral duplication, Temporomandibular joint ankylosis, Intrauterine growth reta... OMIM:275210
Multiple Epiphyseal Dysplasia Type 4
Stiff ankle, Short metacarpal, Joint stiffness, Accelerated skeletal maturation, Contracture of t... ORPHA:93307
Intellectual Disability-Myopathy-Short Stature-Endocrine Defect Syndrome
Abnormal palate morphology, Craniofacial hyperostosis, Hypoplasia of penis, Pectus carinatum, Hyp... ORPHA:3068
Congenital Diaphragmatic Hernia
Congenital diaphragmatic hernia, Aplasia/Hypoplasia of the diaphragm, Prominent sternum, Intestin... ORPHA:2140
Prader-Willi Syndrome Due To Translocation
Retrognathia, Everted lower lip vermilion, Abnormal heart morphology, Bifid uvula, Wide mouth, La... ORPHA:177907
Hall-Riggs Syndrome
Microdontia of primary teeth, Hypoplasia of the primary teeth, Thick lower lip vermilion, Scolios... OMIM:234250
Mogs-Cdg
Retrognathia, Inappropriate antidiuretic hormone secretion, Left ventricular hypertrophy, Cardiom... ORPHA:79330
Roberts-Sc Phocomelia Syndrome
Severe intrauterine growth retardation, Wrist flexion contracture, Biliary tract abnormality, Sho... OMIM:268300
Spinal Muscular Atrophy, Type I
Recurrent respiratory infections, Spinal muscular atrophy, Proximal amyotrophy, Atrial septal def... OMIM:253300
Chromosome 14Q11-Q22 Deletion Syndrome
Delayed skeletal maturation, Mesomelia, Long philtrum, Optic atrophy, Inguinal hernia, Renal tubu... OMIM:613457
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 3
Pectus excavatum, Ureteral stenosis, Delayed skeletal maturation, Nephrocalcinosis, Long philtrum... OMIM:615398
Pycr2-Related Microcephaly-Progressive Leukoencephalopathy
Thin vermilion border, Broad eyebrow, Limb hypertonia, Pectus carinatum, Thoracic kyphoscoliosis,... ORPHA:481152
Desbuquois Dysplasia 1
Disproportionate short-limb short stature, Hyperlordosis, Flat acetabular roof, Kyphosis, Severe ... OMIM:251450
Nijmegen Breakage Syndrome
Retrognathia, Rhabdomyosarcoma, Anorectal anomaly, Pollakisuria, Abnormal hair morphology, Short ... ORPHA:647
Intellectual Developmental Disorder, X-Linked, Syndromic 14
Narrow chest, Pectus carinatum, Mandibular prognathia, Scoliosis, High palate, Pectus excavatum, ... OMIM:300676
Aortic Valve Disease 1
Ventricular septal defect, Aortic valve stenosis, Mitral stenosis, Tetralogy of Fallot, Aortic va... OMIM:109730
Progressive Pseudorheumatoid Arthropathy Of Childhood
Wrist swelling, Hyperlordosis, Generalized osteoporosis, Abnormality of hand joint mobility, Genu... ORPHA:1159
Neurodevelopmental Disorder With Intention Tremor, Pyramidal Signs, Dyspraxia, And Ocular Anomalies
Sacral dimple, Scoliosis, High palate, Short stature, Lower limb hypertonia, Dextrotransposition ... OMIM:619995
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 2
Microdontia, Thoracic hypoplasia, Lateral ventricle dilatation, Hydrops fetalis, Triangular mouth... OMIM:300868
Microcephalic Osteodysplastic Dysplasia, Saul-Wilson Type
Irregularity of vertebral bodies, Short stature, Short palm, Hypoplasia of the odontoid process, ... ORPHA:85172
Ventricular Septal Defect 1
Atrioventricular canal defect, Pulmonic stenosis, Tetralogy of Fallot, Atrial septal defect, Vent... OMIM:614429
Juberg-Hayward Syndrome
Limited elbow extension, Decreased response to growth hormone stimulation test, Abnormal carpal m... OMIM:216100
Ring Chromosome 13 Syndrome
Aplasia/hypoplasia involving bones of the hand, Hypoplasia of the gallbladder, Anencephaly, Short... ORPHA:96176
Noonan Syndrome 7
Cubitus valgus, Pectus carinatum, Scoliosis, Abnormal esophagus morphology, Hypertrophic cardiomy... OMIM:613706
Congenital Heart Defects, Dysmorphic Facial Features, And Intellectual Developmental Disorder
Highly arched eyebrow, Microdontia, Low posterior hairline, Intrauterine growth retardation, Join... OMIM:617360
Holoprosencephaly-Craniosynostosis Syndrome
Short stature, Delayed skeletal maturation, Hypoplastic vertebral bodies, Holoprosencephaly, Shor... ORPHA:2163
Combined Oxidative Phosphorylation Deficiency 32
Kyphoscoliosis, Optic atrophy, Gastroesophageal reflux, Joint contracture, Dysphagia, Horseshoe k... OMIM:617664
Otopalatodigital Syndrome Type 1
Short hallux, Increased bone mineral density, Oligodontia, Limitation of joint mobility, Synostos... ORPHA:90650
Urban-Rogers-Meyer Syndrome
Flexion contracture of toe, Hypoplasia of penis, Abnormality of the philtrum, Short foot, Kyphosi... ORPHA:3409
Seizures-Scoliosis-Macrocephaly Syndrome
Abnormality of the kidney, Reduced bone mineral density, Polyhydramnios, Gastroesophageal reflux,... ORPHA:466926
Duplication Of The Pituitary Gland
Abnormal odontoid process morphology, Supernumerary tooth, Retrognathia, Polyhydramnios, Abnormal... ORPHA:314621
Grange Syndrome
Renal artery stenosis, Coronary artery stenosis, Renovascular hypertension, Bicuspid aortic valve... OMIM:602531
Pelvic Lipomatosis With Crossed Renal Ectopia
Pelvic lipomatosis, Ectopic kidney OMIM:169545
Spondylocarpotarsal Synostosis Syndrome
Pectus carinatum, Hyperlordosis, Short metacarpal, Delayed skeletal maturation, Tarsal synostosis... OMIM:272460
Igg4-Related Thyroid Disease
Euthyroid goiter, Sclerosing cholangitis, Sialadenitis, Thyroiditis, Abnormal pituitary gland mor... ORPHA:64744
17Q23.1Q23.2 Microdeletion Syndrome
Widely spaced teeth, Sacral dimple, Patellar hypoplasia, Gastroesophageal reflux, Highly arched e... ORPHA:261279
Spinal Muscular Atrophy With Congenital Bone Fractures 1
Cardiomyopathy, Multiple prenatal fractures, Dysphagia, Oligohydramnios, Peripheral axonal neurop... OMIM:616866
Primary Pulmonary Hypoplasia
Pneumothorax, Abnormal hemidiaphragm morphology, Dextrocardia, Patellar hypoplasia, Ureteral sten... ORPHA:2257
Spondyloepimetaphyseal Dysplasia, Krakow Type
Decreased serum insulin-like growth factor 1, Annular pancreas, Delayed pubic bone ossification, ... OMIM:618162
Peroxisome Biogenesis Disorder 5A (Zellweger)
Palpebral edema, Cholestasis, Persistent open anterior fontanelle, Renal cortical microcysts, Col... OMIM:614866
Cardiomyopathy-Cataract-Hip Spine Disease Syndrome
Congestive heart failure, Abnormal intervertebral disk morphology, Avascular necrosis, Abnormal h... ORPHA:1345
Coffin-Lowry Syndrome
Highly arched eyebrow, Pectus carinatum, Everted lower lip vermilion, Pectus excavatum, Kyphosis,... OMIM:303600
Anauxetic Dysplasia 3
Beaking of vertebral bodies, Retrognathia, Hip subluxation, Genu valgum, Platyspondyly, High ante... OMIM:618853
Kaposi Sarcoma
Abnormality of the gastrointestinal tract, Venous insufficiency, Lymphedema, Abnormal lung morpho... ORPHA:33276
Ververi-Brady Syndrome
Transposition of the great arteries, Scoliosis, High palate, Everted lower lip vermilion, Short s... OMIM:617982
Feingold Syndrome
Orofacial cleft, Annular pancreas, Esophageal atresia, Abnormal form of the vertebral bodies, Sho... ORPHA:1305
Andersen Cardiodysrhythmic Periodic Paralysis
Short mandibular rami, Prolonged QT interval, Prominent U wave, Dental crowding, Short metacarpal... OMIM:170390
X-Linked Intellectual Disability-Cerebellar Hypoplasia-Spondylo-Epiphyseal Dysplasia Syndrome
Delayed puberty, Lipoma, Lower-limb joint contracture, Everted lower lip vermilion, Long philtrum... ORPHA:459070
Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities
Absent extraocular muscles, Abnormality of the vertebral column, Hydrocephalus, Abnormal auditory... OMIM:109120
Thyrocerebroretinal Syndrome
Goiter, Nephritis, Thrombocytopenia, Skeletal muscle atrophy OMIM:274240
Amastia, Bilateral, With Ureteral Triplication And Dysmorphism
Cubitus valgus, Patent ductus arteriosus, Hydrocephalus, Scoliosis, Hemivertebrae, High palate, P... OMIM:104350
Ring Chromosome 8 Syndrome
Abnormal palate morphology, Polyhydramnios, Low posterior hairline, Abnormality of the ureter, Hy... ORPHA:1450
Ehlers-Danlos Syndrome, Musculocontractural Type, 1
Pectus excavatum, Intestinal malrotation, Abnormal duodenum morphology, Mitral valve prolapse, Um... OMIM:601776
Hyperphosphatasia-Intellectual Disability Syndrome
Aganglionic megacolon, Supernumerary nipple, Short philtrum, Highly arched eyebrow, Mandibular pr... ORPHA:247262
Atrial Septal Defect 4
Atrial septal defect, Patent foramen ovale, Coarctation of aorta OMIM:611363
Osteogenesis Imperfecta, Type Ix
Platyspondyly, Disproportionate short-limb short stature, Pectus carinatum, Scoliosis, Recurrent ... OMIM:259440
Axenfeld-Rieger Syndrome, Type 2
Anal stenosis, Hypospadias, Short philtrum, Inguinal hernia, Hydrocephalus, Mandibular prognathia... OMIM:601499
Atrial Septal Defect 9
Bicuspid aortic valve, Secundum atrial septal defect, Pulmonary arterial hypertension OMIM:614475
Igg4-Related Dacryoadenitis And Sialadenitis
Enlarged lacrimal glands, Palpebral edema, Abnormal salivary gland morphology, Optic nerve compre... ORPHA:79078
Intellectual Disability-Polydactyly-Uncombable Hair Syndrome
Abnormal palate morphology, Aplasia/Hypoplasia of fingers, Hypoplasia of penis, Abnormal hair mor... ORPHA:3082
Teebi-Shaltout Syndrome
Highly arched eyebrow, Pectus carinatum, Pectus excavatum, Ureteral stenosis, Aortic valve stenos... OMIM:272950
Hypertelorism-Microtia-Facial Clefting Syndrome
Median cleft palate, Thenar muscle atrophy, Severe short stature, Crossed fused renal ectopia, Ho... ORPHA:2213
Pfeiffer Syndrome Type 3
Aqueductal stenosis, Horseshoe kidney, Tracheomalacia, Short hallux, Vesicoureteral reflux, Limit... ORPHA:93260
Infantile Liver Failure Syndrome 3
Beaking of vertebral bodies, Prolonged prothrombin time, Jaundice, Hepatomegaly, Cholestasis, Sho... OMIM:618641
Neurodevelopmental Disorder With Dysmorphic Facies, Sleep Disturbance, And Brain Abnormalities
Dysplastic corpus callosum, Thick lower lip vermilion, Hypospadias, Horseshoe kidney, Dysplastic ... OMIM:619103
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 2
Dental crowding, Tracheobronchomalacia, Joint stiffness, Joint hypermobility, Intrauterine growth... OMIM:619184
Spondyloepimetaphyseal Dysplasia, Isidor-Toutain Type
Postnatal growth retardation, Anemia, Scoliosis, Severe short stature, Platyspondyly, Genu varum OMIM:618728
Cole-Carpenter Syndrome 2
Osteopenia, Postnatal growth retardation, Lambdoidal craniosynostosis, Platyspondyly, Hydrocephal... OMIM:616294
Aortic Arch Interruption, Facial Palsy, And Retinal Coloboma
Macular coloboma, Interrupted aortic arch, Facial palsy, Retinal coloboma, Coarctation of aorta OMIM:107550
Epiphyseal Dysplasia, Multiple, 7
Vertebral wedging, Flat acetabular roof, Short femoral neck, Mild short stature, Platyspondyly, A... OMIM:617719
Mulchandani-Bhoj-Conlin Syndrome
Retrognathia, Scoliosis, Hyperlordosis, Severe short stature, Intrauterine growth retardation, Ho... OMIM:617352
Chondroectodermal Dysplasia With Night Blindness
Osteopenia, Nail dystrophy, Abnormal hair morphology, Fractures of the long bones, Osteoporosis, ... ORPHA:319195
Diamond-Blackfan Anemia 15 With Mandibulofacial Dysostosis
Congenital diaphragmatic hernia, Macrocytic anemia, Low posterior hairline, Short stature, Microg... OMIM:606164
Mowat-Wilson Syndrome
Pectus carinatum, Pectus excavatum, Pulmonic stenosis, Generalized muscle hypertrophy, Abnormal h... OMIM:235730
Bilateral Polymicrogyria
Abnormal glossopharyngeal nerve morphology, Abnormality of masticatory muscle, Facial diplegia, C... ORPHA:268940
Enlarged Parietal Foramina
Occipital encephalocele, Venous malformation, Short clavicles, Myelomeningocele, Cleft palate, Ab... ORPHA:60015
Intellectual Developmental Disorder, Autosomal Dominant 73
Retrognathia, Highly arched eyebrow, Hyperlordosis, Everted lower lip vermilion, Kyphosis, Delaye... OMIM:620450
Atrial Septal Defect 1
Atrial septal dilatation, Persistent left superior vena cava, Aortic valve stenosis, Tetralogy of... OMIM:108800
Kinsship Syndrome
Dislocated radial head, Mesomelia, Wide mouth, Cervical ribs, Ventriculomegaly, Hip dislocation, ... OMIM:619297
Short-Rib Thoracic Dysplasia 9 With Or Without Polydactyly
Ureteral duplication, Short ribs, Hypertension, Cholestasis, Microdontia, Bifid uvula, Wide mouth... OMIM:266920
Common Variable Immunodeficiency
Purpura, Emphysema, Lymphadenopathy, Vasculitis, Recurrent bronchitis, Anal atresia, Gastrointest... ORPHA:1572
Fanconi Anemia, Complementation Group D1
Acute myeloid leukemia, Anal atresia, Short stature, Bone marrow hypocellularity, Short thumb, T-... OMIM:605724
Congenital Disorder Of Glycosylation, Type Ig
Butterfly vertebrae, Hypoplasia of the radius, Polyhydramnios, Rhizomelia, Hypospadias, Short phi... OMIM:607143
Insulin-Like Growth Factor I, Resistance To
Retrognathia, Highly arched eyebrow, Pectus excavatum, Delayed skeletal maturation, Severe short ... OMIM:270450
Spondyloepimetaphyseal Dysplasia, Di Rocco Type
Reduced bone mineral density, Delayed ossification of carpal bones, Irregular acetabular roof, Sh... OMIM:617974
Wildervanck Syndrome
Fused cervical vertebrae, Meningocele, Facial palsy, Low posterior hairline, Short neck, Pseudopa... ORPHA:3456
Dyskeratosis Congenita
Premature graying of hair, Nail dystrophy, Neoplasm of the pancreas, Anorectal anomaly, Tracheoes... ORPHA:1775
Livedoid Vasculopathy
Ischemic stroke, Abnormal capillary morphology, Anemia, Venous insufficiency, Abnormality of the ... ORPHA:542643
H Syndrome
Delayed puberty, Enlarged kidney, Delayed skeletal maturation, Abnormal eyebrow morphology, Hypog... ORPHA:168569
3-Methylglutaconic Aciduria, Type V
Optic atrophy, Congestive heart failure, 3-Methylglutaconic aciduria, Postnatal growth retardatio... OMIM:610198
Atrioventricular Defect-Blepharophimosis-Radial And Anal Defect Syndrome
Hypoplasia of the ulna, Aplasia/Hypoplasia of the thumb, Anal atresia, Aplasia of the 1st metacar... ORPHA:1352
Epiphyseal Dysplasia, Multiple, With Severe Proximal Femoral Dysplasia
Genu valgum, Irregularity of vertebral bodies, Short stature, Short femoral neck, Platyspondyly OMIM:609324
Arboleda-Tham Syndrome
Lower limb amyotrophy, Highly arched eyebrow, Pectus excavatum, Pulmonic stenosis, Intestinal mal... OMIM:616268
Gaucher Disease, Type Ii
Hepatomegaly, Anemia, Gastroesophageal reflux, Bronchiolitis, Double aortic arch, Recurrent aspir... OMIM:230900
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis
Optic atrophy, Osteopetrosis, Sclerotic vertebral body, Bell-shaped thorax, Diaphyseal sclerosis,... OMIM:618476
Mucopolysaccharidosis, Type Iiia
Coarse hair, Hepatomegaly, Dense calvaria, Inguinal hernia, Scoliosis, Hirsutism, Asymmetric sept... OMIM:252900
Polyhydramnios-Megalencephaly-Symptomatic Epilepsy Syndrome
Congestive heart failure, Polyhydramnios, Diabetes insipidus, Facial hypotonia, Highly arched eye... ORPHA:500533
Charcot-Marie-Tooth Disease, Type 4C
Delayed brainstem auditory evoked response conduction time, Axonal degeneration, Abnormal cranial... OMIM:601596
Osteogenesis Imperfecta, Type X
Thoracic hypoplasia, Dentinogenesis imperfecta, Joint hypermobility, Broad ribs, Rhizomelia, Ingu... OMIM:613848
Noonan Syndrome 5
Polyhydramnios, Cubitus valgus, Abnormal sternum morphology, Mandibular prognathia, Hypertrophic ... OMIM:611553
Alkaptonuria
Reduced bone mineral density, Intervertebral disk calcification, Hypertension, Thickened Achilles... ORPHA:56
Lipodystrophy, Generalized, With Mental Retardation, Deafness, Short Stature, And Slender Bones
Osteopenia, Genu valgum, Cubitus valgus, Generalized lipodystrophy, Congenital generalized lipody... OMIM:608154
Exstrophy-Epispadias Complex
Urinary incontinence, Bifid penis, Bladder fistula, Bladder duplication, Abnormal heart morpholog... ORPHA:322
Thymic Neuroendocrine Tumor
Osteopenia, Neoplasm of the endocrine system, Mediastinal lymphadenopathy, Pancreatic islet cell ... ORPHA:97289
Thyroid Hormone Resistance, Generalized, Autosomal Recessive
Elevated circulating thyroid-stimulating hormone concentration, Increased circulating T4 concentr... OMIM:274300
46,Xy Sex Reversal 4
Distal symphalangism, Renal dysplasia, High palate, Anal atresia, Hypergonadotropic hypogonadism,... OMIM:154230
Spondyloepiphyseal Dysplasia, Kimberley Type
Genu valgum, Proportionate short stature, Delayed skeletal maturation, Platyspondyly, Genu varum OMIM:608361
Spondyloepiphyseal Dysplasia Congenita
Limited elbow movement, Cervical myelopathy, Delayed pubic bone ossification, Limitation of knee ... OMIM:183900
Hyperparathyroidism, Transient Neonatal
Enlarged kidney, Short ribs, Ovarian cyst, Umbilical hernia, Ventriculomegaly, Hyperparathyroidis... OMIM:618188
Thanatophoric Dysplasia, Type I
Polyhydramnios, Platyspondyly, Narrow chest, Disproportionate short-limb short stature, Hydroceph... OMIM:187600
Encephalocraniocutaneous Lipomatosis
Osteochondrosis, Tricuspid valve prolapse, Craniofacial hyperostosis, Interrupted aortic arch, Al... ORPHA:2396
Postaxial Acrofacial Dysostosis
Hypoplasia of the ulna, Hypoplasia of the radius, Abnormality of the kidney, Postnatal growth ret... OMIM:263750
Telangiectasia, Hereditary Hemorrhagic, Type 1
Tongue telangiectasia, Hematemesis, Nail bed telangiectasia, Gastrointestinal hemorrhage, Dilatat... OMIM:187300
Ivic Syndrome
Hypoplasia of the radius, Rectovaginal fistula, Scoliosis, Synostosis of carpal bones, Anal atres... ORPHA:2307
Kniest Dysplasia
Platyspondyly, Rhizomelia, Inguinal hernia, Delayed epiphyseal ossification, Tracheomalacia, Limi... OMIM:156550
White Forelock With Malformations
Abnormal palate morphology, Spina bifida occulta, Abnormal rib morphology, White forelock, Delaye... ORPHA:2475
Caudal Duplication
Ureteral duplication, Renal hypoplasia/aplasia, Abnormal penis morphology, Intestinal duplication... ORPHA:1756
Neurooculocardiogenitourinary Syndrome
Patent foramen ovale, Coloboma, Bilateral cryptorchidism, Tricuspid regurgitation, Downturned cor... OMIM:618652
Spondyloepimetaphyseal Dysplasia, Irapa Type
Limited elbow extension, Hypoplastic sacrum, Genu valgum, Enlargement of the costochondral juncti... OMIM:271650
Bangstad Syndrome
Retrognathia, Pancytopenia, Severe short stature, Goiter, Primary gonadal insufficiency, Insulin-... OMIM:210740
Restrictive Dermopathy 2
Rectal prolapse, Gastroesophageal reflux, Short clavicles, Hypoplastic facial bones, Microretrogn... OMIM:619793
Ascher Syndrome
High palate, Hypothyroidism, Goiter, Abnormal upper lip morphology, Upper eyelid edema ORPHA:1253
Brachydactylous Dwarfism, Mseleni Type
Osteopenia, Osteoarthritis of the elbow, Abnormality of the wrist, Hip osteoarthritis, Joint subl... ORPHA:2619
Brachyolmia Type 4 With Mild Epiphyseal And Metaphyseal Changes
Kyphoscoliosis, Premature pubarche, Hirsutism, Short stature, Lumbar scoliosis, Lower limb underg... OMIM:612847
Short-Rib Thoracic Dysplasia 18 With Polydactyly
Vertebral wedging, Polycystic kidney dysplasia, Hydrocephalus, Short ribs, Missing ribs, Micromel... OMIM:617866
Multiple Epiphyseal Dysplasia, Beighton Type
Genu valgum, Lumbar platyspondyly, Intervertebral space narrowing, Pedal edema, Abnormal lumbar s... ORPHA:166011
Orofaciodigital Syndrome I
Hypertension, Hypothalamic hamartoma, Myelomeningocele, Abnormal heart morphology, Ovarian cyst, ... OMIM:311200
Osteoarthritis With Mild Chondrodysplasia
Beaking of vertebral bodies, Hip osteoarthritis, Knee osteoarthritis, Heberden's node, Joint stif... OMIM:604864
Acitretin/Etretinate Embryopathy
Atrioventricular canal defect, Aplasia/hypoplasia involving bones of the upper limbs, Bradycardia... ORPHA:40366
Mucopolysaccharidosis, Type Iiic
Kyphoscoliosis, Beaking of vertebral bodies, Coarse hair, Hepatomegaly, Dense calvaria, Hirsutism... OMIM:252930
Autosomal Recessive Malignant Osteopetrosis
Reduced bone mineral density, Splenomegaly, Craniosynostosis, Hydrocephalus, Pulmonary arterial h... ORPHA:667
Kleefstra Syndrome 1
Hypospadias, Gastroesophageal reflux, Tracheobronchomalacia, Mandibular prognathia, Abnormal rena... OMIM:610253
3Mc Syndrome 2
Limited elbow movement, Highly arched eyebrow, Broad philtrum, Joint hypermobility, Craniosynosto... OMIM:265050
Craniodiaphyseal Dysplasia
Optic atrophy, Abnormal rib morphology, Craniofacial hyperostosis, Short stature ORPHA:1513
Intellectual Developmental Disorder, X-Linked, Syndromic, Bain Type
Short philtrum, Gastroesophageal reflux, Pectus carinatum, Scoliosis, Hyperlordosis, High palate,... OMIM:300986
Frontorhiny
Iris coloboma, Encephalocele, Diabetes insipidus, Pericallosal lipoma, Scoliosis, Hypoplastic fro... ORPHA:391474
Cleft Lip/Palate-Ectodermal Dysplasia Syndrome
Nail dystrophy, Highly arched eyebrow, Bilateral cleft palate, Hyperlordosis, Hypogonadism, Spars... ORPHA:3253
Diarrhea 3, Secretory Sodium, Congenital, With Or Without Other Congenital Anomalies
Ureteral duplication, Polyhydramnios, Rectovaginal fistula, Anal atresia, Intestinal malrotation,... OMIM:270420
Erythroderma, Congenital, With Palmoplantar Keratoderma, Hypotrichosis, And Hyper-Ige
Multiple muscular ventricular septal defects, Pulmonic stenosis, Eosinophilic infiltration of the... OMIM:615508
Faciodigitogenital Syndrome, Autosomal Recessive
Narrow palate, Inguinal hernia, Widow's peak, Pollakisuria, High palate, Pectus excavatum, Campto... OMIM:227330
Craniofacial Dysplasia-Short Stature-Ectodermal Anomalies-Intellectual Disability Syndrome
Abnormality of the kidney, Widely spaced teeth, Inguinal hernia, Hydrocephalus, Dandy-Walker malf... ORPHA:459061
Tuberous Sclerosis Complex
Cardiac rhabdomyoma, Pheochromocytoma, Hypertension, Pituitary adenoma, Parathyroid adenoma, Nonc... ORPHA:805
Goldberg-Shprintzen Syndrome
Aganglionic megacolon, Aortic regurgitation, Short philtrum, Limb hypertonia, Highly arched eyebr... OMIM:609460
Radiation Proctitis
Intestinal obstruction, Rectal fistula, Abnormal vascular morphology, Abnormal gastrointestinal v... ORPHA:70475
Bardet-Biedl Syndrome
Retrognathia, Abnormality of the endocrine system, Hypoplasia of the ovary, Dental crowding, Hypo... ORPHA:110
Branchioskeletogenital Syndrome
Highly arched eyebrow, Upper limb peromelia, Pectus excavatum, Ureteral stenosis, Bifid uvula, Um... ORPHA:1299
Fibrodysplasia Ossificans Progressiva
Widely spaced teeth, Short hallux, Ectopic ossification in tendon tissue, Scoliosis, Ectopic ossi... OMIM:135100
Waardenburg Syndrome Type 1
Premature graying of hair, Aganglionic megacolon, Hypopigmentation of hair, Meningocele, Abnormal... ORPHA:894
Autosomal Recessive Stickler Syndrome
Genu valgum, Short stature, Micrognathia, Cleft palate, Malar flattening, Irregular vertebral end... ORPHA:250984
Hydrocephalus-Costovertebral Dysplasia-Sprengel Anomaly Syndrome
Abnormal form of the vertebral bodies, Hydrocephalus, Abnormal dental enamel morphology, Mandibul... ORPHA:2180
Orofaciodigital Syndrome Xi
Kyphoscoliosis, Hypoplasia of the odontoid process, Cleft palate, Gastroesophageal reflux OMIM:612913
Alagille Syndrome 2
Cholestatic liver disease, Hematuria, Renal tubular acidosis, Renal insufficiency, Hypertension, ... OMIM:610205
Pseudodiastrophic Dysplasia
Rhizomelia, Scoliosis, Omphalocele, Malar flattening, Platyspondyly, Phalangeal dislocation, Elbo... ORPHA:85174
Congenital Myopathy 11
Polyhydramnios, Patent ductus arteriosus, Patent foramen ovale, Weakness of facial musculature, A... OMIM:619967
Cleidocranial Dysplasia
Glossoptosis, Decreased skull ossification, Sinusitis, Abnormal sacrum morphology, Scoliosis, Dys... ORPHA:1452
Anophthalmia-Megalocornea-Cardiopathy-Skeletal Anomalies Syndrome
Tricuspid valve prolapse, High, narrow palate, Aniridia, Inguinal hernia, Hypoplasia of the muscu... ORPHA:1101
Dysspondyloenchondromatosis
Kyphoscoliosis, Genu valgum, Joint dislocation, Scoliosis, Vertebral segmentation defect, Anisosp... ORPHA:85198
Li-Ghorbani-Weisz-Hubshman Syndrome
Downturned corners of mouth, Thick vermilion border, Patent ductus arteriosus, Ventriculomegaly, ... OMIM:618974
Silver-Russell Syndrome 1
Decreased response to growth hormone stimulation test, Hypospadias, Delayed cranial suture closur... OMIM:180860
Malan Syndrome
Retrognathia, Advanced eruption of teeth, Mandibular prognathia, Gingival overgrowth, Narrow mout... OMIM:614753
Ectopia Lentis 1, Isolated, Autosomal Dominant
Aortic root aneurysm, Pectus carinatum, Scoliosis, High palate, Pectus excavatum, Mitral valve pr... OMIM:129600
Spondyloepimetaphyseal Dysplasia, Strudwick Type
Genu valgum, Delayed pubic bone ossification, Inguinal hernia, Disproportionate short-limb short ... OMIM:184250
Multinodular Goiter-Cystic Kidney-Polydactyly Syndrome
Multicystic kidney dysplasia, Multinodular goiter ORPHA:2091
Osteoporosis-Oculocutaneous Hypopigmentation Syndrome
Hypopigmentation of hair, Kyphosis, Osteoporosis, Short stature, Platyspondyly, Albinism ORPHA:2786
Metaphyseal Chondromatosis With D-2-Hydroxyglutaric Aciduria
Retrognathia, Abnormal bone ossification, Lymphangioma, Long philtrum, Intrauterine growth retard... ORPHA:99646
Spondyloepiphyseal Dysplasia Tarda
Kyphoscoliosis, Limited elbow movement, Abnormally ossified vertebrae, Biconcave vertebral bodies... ORPHA:93284
Symptomatic Form Of Fragile X Syndrome In Female Carriers
Gastroesophageal reflux, Aortic root aneurysm, Mandibular prognathia, Scoliosis, Hypertension, Hy... ORPHA:449291
Squamous Cell Carcinoma Of The Anal Canal
Rectal prolapse, Anal stenosis, Anal canal squamous cell carcinoma, Neoplasm of the rectum, Lymph... ORPHA:424019
Pseudo-Torch Syndrome 2
Hepatomegaly, Bradycardia, Petechiae, Thin ribs, Pleural effusion, Ascites, Abnormal renal cortic... OMIM:617397
Systemic Sclerosis
Nail bed telangiectasia, Pericarditis, Dysphagia, Intestinal bleeding, Abnormal small intestine m... ORPHA:90291
Melioidosis
Lung abscess, Pneumonia, Liver abscess, Foot osteomyelitis, Acute infectious pneumonia, Parotitis... ORPHA:31202
Congenital Heart Defects, Multiple Types, 3
Tachycardia, Atrial fibrillation, Right bundle branch block, Abnormal heart morphology, Tetralogy... OMIM:614954
Spondylocamptodactyly Syndrome
Platyspondyly, Camptodactyly of finger, Scoliosis ORPHA:3180
Klippel-Trenaunay-Weber Syndrome
Arteriovenous fistula, Lymphangioma, Finger aplasia, Lymphedema OMIM:149000
Xy Type Gonadal Dysgenesis-Associated Anomalies Syndrome
Renal hypoplasia/aplasia, Non-midline cleft of the upper lip, Abnormality of the philtrum, Abnorm... ORPHA:1770
Otospondylomegaepiphyseal Dysplasia, Autosomal Dominant
Cleft palate, Pierre-Robin sequence, Malar flattening, Platyspondyly, Premature osteoarthritis OMIM:184840
Nijmegen Breakage Syndrome
Rhabdomyosarcoma, T lymphocytopenia, Sinusitis, Intrauterine growth retardation, Short stature, C... OMIM:251260
Graves Disease
Increased circulating free T3, Congestive heart failure, Decreased thyroid-stimulating hormone le... OMIM:275000
Microcephaly-Seizures-Intellectual Disability-Heart Disease Syndrome
Abnormal sternum morphology, Short ribs, Abnormal rib morphology, Cryptorchidism, Pulmonary arter... ORPHA:2519
Igg4-Related Submandibular Gland Disease
Enlarged lacrimal glands, Abnormality of the kidney, Abnormal salivary gland morphology, Abnormal... ORPHA:449432
Hyper-Ige Syndrome 1, Autosomal Dominant, With Recurrent Infections
Duodenal ulcer, Dysphagia, Joint hypermobility, Craniosynostosis, Gastric ulcer, Eosinophilic inf... OMIM:147060
Spinal Dysplasia, Anhalt Type
Narrow anterio-posterior vertebral body diameter, Short stature, Thoracolumbar scoliosis, Thoraci... OMIM:601344
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome
Delayed puberty, Abnormality of the endocrine system, Primary hypothyroidism, Abnormal intestine ... ORPHA:391487
Omodysplasia 1
Disproportionate short-limb short stature, Limited knee extension, Short humerus, Umbilical herni... OMIM:258315
Kapur-Toriello Syndrome
Dysplastic corpus callosum, Orofacial cleft, Hypoplasia of penis, Retinal coloboma, Intestinal ma... ORPHA:2328
Ciliary Dyskinesia, Primary, 20
Situs inversus totalis, Atelectasis, Dextrocardia, Pulmonary arterial hypertension, Persistent le... OMIM:615067
Laryngotracheoesophageal Cleft Type 4
Abnormal form of the vertebral bodies, Abnormal rib morphology, Tracheoesophageal fistula, Abnorm... ORPHA:93941
Xp22.3 Microdeletion Syndrome
Sacral dimple, Ectopic anus, Short stature, Polycystic ovaries, Hypogonadotropic hypogonadism ORPHA:1643
Von Willebrand Disease
Gastrointestinal hemorrhage, Muscle hemorrhage, Venous insufficiency, Petechiae, Abnormal mitral ... ORPHA:903
Aneurysm-Osteoarthritis Syndrome
Retrognathia, Arterial tortuosity, Spondylolisthesis, Pectus carinatum, Pectus excavatum, Arteria... ORPHA:284984
Hyperphosphatasia With Impaired Intellectual Development Syndrome 3
Aganglionic megacolon, Anal stenosis, Dandy-Walker malformation, Scoliosis, Short stature, Shorte... OMIM:614207
Intellectual Developmental Disorder, X-Linked, Syndromic, Nascimento Type
Thin vermilion border, Nail dystrophy, Horseshoe kidney, Hirsutism, Low posterior hairline, Synop... OMIM:300860
Avascular Necrosis Of Femoral Head, Primary, 2
Platyspondyly, Avascular necrosis of the capital femoral epiphysis, Short stature OMIM:617383
Hutchinson-Gilford Progeria Syndrome
Retrognathia, Reduced bone mineral density, Dental crowding, Ventricular hypertrophy, Hypertensio... ORPHA:740
Surfactant Metabolism Dysfunction, Pulmonary, 1
Intraalveolar phospholipid accumulation, Pulmonary arterial hypertension, Neonatal death, Interlo... OMIM:265120
Vertebral Hypersegmentation And Orofacial Anomalies
Inguinal hernia, Scapular winging, Unilateral cleft palate, Pectus excavatum, Six lumbar vertebra... OMIM:619122
Multicentric Osteolysis, Nodulosis, And Arthropathy
Kyphoscoliosis, Ankylosis of feet small joints, Wrist flexion contracture, Sclerotic cranial sutu... OMIM:259600
Epiphyseal Dysplasia, Multiple, With Early-Onset Diabetes Mellitus
Hyperlordosis, Type I diabetes mellitus, Hip dislocation, Shortening of all middle phalanges of t... OMIM:226980
Pfeiffer Syndrome Type 2
Aqueductal stenosis, Tracheomalacia, Short hallux, Hydrocephalus, High palate, Limitation of join... ORPHA:93259
Magel2-Related Prader-Willi-Like Syndrome
Small pituitary gland, Kyphosis, Hypogonadism, Hypothalamic luteinizing hormone-releasing hormone... ORPHA:398069
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome
Microdontia, Sparse hair, Lymphopenia, Intrauterine growth retardation, Craniosynostosis, Accesso... OMIM:620005
16P12.1P12.3 Triplication Syndrome
Retrognathia, Decreased response to growth hormone stimulation test, Thin vermilion border, Abnor... ORPHA:485405
Spondylometaphyseal Dysplasia, Kozlowski Type
Pectus carinatum, Flat acetabular roof, Kyphosis, Severe short stature, Short distal phalanx of f... ORPHA:93314
Tsh-Secreting Pituitary Adenoma
Delayed puberty, Hypertension, Female hypogonadism, Hypogonadism, Central adrenal insufficiency, ... ORPHA:91347
Spondyloepimetaphyseal Dysplasia, Irapa Type
Abnormal carpal morphology, Genu valgum, Short metatarsal, Disproportionate short-limb short stat... ORPHA:93351
Autosomal Dominant Spastic Paraplegia Type 29
Hernia, Abnormal rectum morphology, Abnormality of the lower urinary tract, Hiatus hernia ORPHA:101009
Proximal Spinal Muscular Atrophy
Distal lower limb muscle weakness, Multiple joint contractures, Gastroesophageal reflux, Bradycar... ORPHA:70
Lymphedema-Distichiasis Syndrome
Yellow nails, Predominantly lower limb lymphedema, Chylothorax, Lymphedema, Kyphosis, Distichiasi... OMIM:153400
Microcephaly, Developmental Delay, And Brittle Hair Syndrome
Talipes valgus, Atrial septal defect, Delayed puberty, Generalized limb muscle atrophy, Hypospadi... OMIM:618891
Thyroid Hormone Resistance, Generalized, Autosomal Dominant
Goiter, Impaired sensitivity to thyroid hormone, Increased circulating free T4 concentration, Inc... OMIM:188570
Spondyloepimetaphyseal Dysplasia Congenita, Strudwick Type
Restricted large joint movement, Abnormal vertebral morphology, Maternal diabetes, Cervical insta... ORPHA:93346
Thanatophoric Dysplasia, Type Ii
Polyhydramnios, Platyspondyly, Narrow chest, Wide-cupped costochondral junctions, Short ribs, Mic... OMIM:187601
Kdm5C-Related Syndromic X-Linked Intellectual Disability
High palate, Patchy alopecia, Hypoplasia of the maxilla, Camptodactyly of finger, Decreased testi... ORPHA:85279
Visceral Myopathy 2
Intestinal obstruction, Rectal prolapse, Intestinal pseudo-obstruction, Gastroesophageal reflux, ... OMIM:619350
Spondylometaphyseal Dysplasia, A4 Type
Limitation of joint mobility, Micromelia, Flared, irregular rib ends, Short palm, Severe short st... ORPHA:168555
Dyggve-Melchior-Clausen Disease
Multicentric ossification of proximal humeral epiphyses, Pectus carinatum, Multicentric ossificat... OMIM:223800
Neurodevelopmental Disorder With Seizures, Microcephaly, And Brain Abnormalities
Unilateral renal agenesis, Ventriculomegaly, Coronary artery fistula, Cryptorchidism, Short statu... OMIM:620024
X-Linked Intellectual Disability With Isolated Growth Hormone Deficiency
Decreased response to growth hormone stimulation test, Anterior pituitary hypoplasia, Short statu... ORPHA:67045
Osteogenesis Imperfecta, Type V
Osteopenia, Anterior radial head dislocation, Platyspondyly, Vertebral wedging, Hyperextensibilit... OMIM:610967
Isolated Anencephaly
Congenital diaphragmatic hernia, Maternal diabetes, Adrenal hypoplasia, Omphalocele, Thymus hyper... ORPHA:563609
Lathosterolosis
Anisopoikilocytosis, Intrahepatic cholestasis, Hepatomegaly, Meningocele, Hypoplasia of penis, Gi... ORPHA:46059
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 1
Butterfly vertebrae, Vesicoureteral reflux, Aortic valve stenosis, Submucous cleft hard palate, R... OMIM:617660
Burn-Mckeown Syndrome
Hypomimic face, Thin vermilion border, Unilateral renal agenesis, Short philtrum, Inguinal hernia... OMIM:608572
Thyroid Dyshormonogenesis 5
Hypothyroidism, Goiter, Growth delay OMIM:274900
Thyroid Dyshormonogenesis 4
Hypothyroidism, Goiter, Growth delay OMIM:274800
Wiedemann-Rautenstrauch Syndrome
Lipoatrophy, Hypoplastic facial bones, Short humerus, Dysphagia, Long philtrum, Intrauterine grow... OMIM:264090
Singleton-Merten Syndrome 1
Aortic arch calcification, Eruption failure, Short dental root, Aortic valve stenosis, Cardiomega... OMIM:182250
Mucopolysaccharidosis Type 6
Thick lower lip vermilion, Genu valgum, Abnormal heart valve morphology, Kyphosis, Sinusitis, Joi... ORPHA:583
Microphthalmia, Lenz Type
Abnormal clavicle morphology, Orofacial cleft, Abnormal shoulder morphology, Renal hypoplasia/apl... ORPHA:568
Contractures, Pterygia, And Spondylocarpotarsal Fusion Syndrome 1B
Tarsal synostosis, Fused cervical vertebrae, Scoliosis, Cleft palate, Antecubital pterygium, Flex... OMIM:618469
Papillorenal Syndrome
Hematuria, Horseshoe kidney, Edema, Scoliosis, Hypertension, Mild proteinuria, Nephrolithiasis, V... OMIM:120330
Semilobar Holoprosencephaly
Solitary median maxillary central incisor, Abnormality of the endocrine system, Bifid uvula, Abno... ORPHA:220386
Alobar Holoprosencephaly
Solitary median maxillary central incisor, Abnormality of the endocrine system, Bifid uvula, Abno... ORPHA:93925
Midline Interhemispheric Variant Of Holoprosencephaly
Solitary median maxillary central incisor, Abnormality of the endocrine system, Bifid uvula, Abno... ORPHA:93926
Lobar Holoprosencephaly
Solitary median maxillary central incisor, Abnormality of the endocrine system, Bifid uvula, Abno... ORPHA:93924
Trichohepatoenteric Syndrome 1
Cholestasis, Pulmonic stenosis, Renal cortical microcysts, Bifid uvula, Wide mouth, Splenomegaly,... OMIM:222470
Craniosynostosis, Herrmann-Opitz Type
Abnormal rib morphology, Micromelia, Abnormality of the upper urinary tract, Short stature, Micro... ORPHA:2145
Split-Hand/Foot Malformation 3
Nail dystrophy, High palate, Narrow mouth, Camptodactyly, Hypoplasia of the maxilla, Renal hypopl... OMIM:246560
Neu-Laxova Syndrome
Retrognathia, Everted lower lip vermilion, Bifid uvula, Hypogonadism, Intrauterine growth retarda... ORPHA:2671
Multiple Pterygium-Malignant Hyperthermia Syndrome
Broad alveolar ridges, Pectus excavatum, Kyphosis, Severe short stature, Long philtrum, Advanced ... ORPHA:2215
Al Kaissi Syndrome
Postnatal growth retardation, High, narrow palate, Sacral dimple, Torticollis, Hemivertebrae, Int... OMIM:617694
Thoraco-Abdominal Enteric Duplication
Hepatomegaly, Abnormal tricuspid valve morphology, Dextrocardia, Meningocele, Missing ribs, Intes... ORPHA:1759
Kikuchi-Fujimoto Disease
Palpebral edema, Lymphocytosis, Leukopenia, Splenomegaly, Neutropenia, Myocarditis, Vasculitis, G... ORPHA:50918
Tall Stature-Intellectual Disability-Renal Anomalies Syndrome
Renal malrotation, Enlarged kidney, Spina bifida occulta, Abnormal right ventricle morphology, In... ORPHA:500095
Familial Bicuspid Aortic Valve
Aortic regurgitation, Abnormal left ventricular outflow tract morphology, Hypertension, Aortic ar... ORPHA:402075
Macrocephaly, Neurodevelopmental Delay, Lymphoid Hyperplasia, And Persistent Fetal Hemoglobin
Patent ductus arteriosus, Gastroesophageal reflux, Dental crowding, Increased size of nasopharyng... OMIM:619769
Acrodysostosis
Abnormal form of the vertebral bodies, Short metacarpal, Accelerated skeletal maturation, Hypogon... ORPHA:950
Thyroid Dyshormonogenesis 3
Increased T3/T4 ratio, Goiter, Thyroid carcinoma, Compensated hypothyroidism OMIM:274700
Otospondylomegaepiphyseal Dysplasia
Disproportionate short stature, Abnormal vertebral morphology, Platyspondyly, Polyhydramnios, Glo... ORPHA:1427
Polyhydramnios, Megalencephaly, And Symptomatic Epilepsy
Thick lower lip vermilion, Polyhydramnios, Diabetes insipidus, Facial hypotonia, Thick upper lip ... OMIM:611087
Macrocephaly-Intellectual Disability-Left Ventricular Non Compaction Syndrome
Kyphoscoliosis, Delayed puberty, Dental crowding, Wide mouth, Left ventricular hypertrophy, Joint... ORPHA:466791
Wolfram Syndrome 1
Optic atrophy, Hydroureter, Diabetes insipidus, Megaloblastic anemia, Neurogenic bladder, Cardiom... OMIM:222300
Cardiofaciocutaneous Syndrome 3
Reduced bone mineral density, Scoliosis, Pectus excavatum, Hypertrophic cardiomyopathy, Curly hai... OMIM:615279
Atelosteogenesis, Type Iii
Rhizomelia, Cervical segmentation defect, Scoliosis, Horizontal sacrum, Flat acetabular roof, Hyp... OMIM:108721
Spondyloepiphyseal Dysplasia Tarda With Mental Retardation
Platyspondyly, Anterior beaking of lumbar vertebrae OMIM:271620
Spondyloepiphyseal Dysplasia Congenita
Limited elbow movement, Spinal rigidity, Reduced bone mineral density, Glossoptosis, Flat acetabu... ORPHA:94068
Monosomy 9Q22.3
Orofacial cleft, Rhabdomyosarcoma, Delayed eruption of teeth, Odontogenic keratocysts of the jaw,... ORPHA:77301
Frontoocular Syndrome
Narrow philtrum, High palate, Narrow mouth, Pectus excavatum, Pulmonic stenosis, Coronal craniosy... OMIM:605321
Peutz-Jeghers Syndrome
Rectal prolapse, Neoplasm of the pancreas, Oral melanotic macule, Gastrointestinal carcinoma, Iro... OMIM:175200
Axin2-Related Attenuated Familial Adenomatous Polyposis
Adenomatous colonic polyposis, Colon cancer, Neoplasm of the rectum, Colorectal polyposis ORPHA:401911
Sponastrime Dysplasia
Kyphoscoliosis, Disproportionate short-limb short stature, Short dental root, Microdontia, Biconc... ORPHA:93357
Hyperinsulinemic Hypoglycemia, Familial, 2
Nesidioblastosis, Pancreatic islet-cell hyperplasia, Hyperinsulinemic hypoglycemia OMIM:601820
Hypoplastic Left Heart Syndrome
Maternal diabetes, Patent ductus arteriosus, Hypoplastic aortic arch, Mitral stenosis, Mitral atr... ORPHA:2248
Fountain Syndrome
Abnormal palate morphology, Thick lower lip vermilion, Spina bifida occulta, Craniofacial hyperos... ORPHA:3219
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type
Rhizomelia, Short philtrum, Hydrocephalus, Thin ribs, Intrauterine growth retardation, Short stat... ORPHA:163966
Baraitser-Winter Cerebrofrontofacial Syndrome
Retrognathia, Palpebral edema, Highly arched eyebrow, Low posterior hairline, Joint stiffness, Wi... ORPHA:2995
Retinal Dystrophy With Or Without Extraocular Anomalies
Goiter, Pulmonary fibrosis OMIM:617175
Pendred Syndrome
Goiter, Thyroid carcinoma, Compensated hypothyroidism OMIM:274600
Campomelia, Cumming Type
Hepatomegaly, Hydrops fetalis, Multicystic kidney dysplasia, Abnormal intestine morphology, Lymph... ORPHA:1318
Pancreatic Agenesis-Holoprosencephaly Syndrome
Semilobar holoprosencephaly, Solitary median maxillary central incisor, High palate, Pancreatic a... ORPHA:556955
Male Hypergonadotropic Hypogonadism-Intellectual Disability-Skeletal Anomalies Syndrome
Abnormal form of the vertebral bodies, Hypoplasia of penis, Hemivertebrae, Abnormal rib morpholog... ORPHA:2234
Acromesomelic Dysplasia 4
Short metacarpal, Accelerated skeletal maturation, Mesomelia, Umbilical hernia, Thoracic platyspo... OMIM:619636
Congenital Lipomatous Overgrowth, Vascular Malformations, And Epidermal Nevi
Venous malformation, Lipoma, Scoliosis, Renal hypoplasia, Splenomegaly, Nephroblastoma, Spinal dy... OMIM:612918
Short Stature, Brussels Type
Narrow chest, Delayed epiphyseal ossification, Growth delay, Short stature, Microretrognathia, Ho... ORPHA:2867
Hydrocephalus With Stenosis Of The Aqueduct Of Sylvius
Aqueductal stenosis, Hydrocephalus, Joint stiffness, Holoprosencephaly, Agenesis of corpus callosum ORPHA:2182
Ehlers-Danlos Syndrome, Vascular Type
Hypermobility of distal interphalangeal joints, Repeated pneumothoraces, Pectus excavatum, Cigare... OMIM:130050
Joubert Syndrome 38
Decreased response to growth hormone stimulation test, Small pituitary gland, Short stature, Down... OMIM:619476
Thyroid Dyshormonogenesis 2A
Hypothyroidism, Goiter, Decreased circulating T4 concentration, Thyroid defect in oxidation and o... OMIM:274500
Dihydropyrimidinase Deficiency
Uraciluria, Elevated urinary dihydrothymine level, Elevated urinary dihydrouracil level, Elevated... OMIM:222748
Cutis Laxa, Autosomal Recessive, Type Iid
Kyphoscoliosis, Retrognathia, Atrial septal defect, Congestive heart failure, Pneumothorax, Ingui... OMIM:617403
Arthrogryposis, Renal Dysfunction, And Cholestasis 1
Cholestatic liver disease, Intrahepatic biliary atresia, Hepatic melanin-like lysosomal pigmentat... OMIM:208085
Neurodevelopmental Disorder With Facial Dysmorphism, Absent Language, And Pseudo-Pelger-Huet Anomaly
Kyphoscoliosis, Thick lower lip vermilion, Patent foramen ovale, Everted lower lip vermilion, Hyp... OMIM:620075
Pituitary Hormone Deficiency, Combined, 6
Decreased thyroid-stimulating hormone level, Decreased circulating ACTH concentration, Decreased ... OMIM:613986
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate
Nail dystrophy, Widely spaced teeth, Hypospadias, Conical tooth, Absent eyelashes, Selective toot... OMIM:106260
Schneckenbecken Dysplasia
Lateral clavicle hook, Fibular hypoplasia, Polyhydramnios, Narrow chest, Abnormal form of the ver... ORPHA:3144
Lynch Syndrome
Neoplasm of the stomach, Adenoma sebaceum, Neoplasm of the pancreas, Intestinal polyposis, Ovaria... ORPHA:144
Thyroid Cancer, Nonmedullary, 1
Non-medullary thyroid carcinoma, Goiter, Papillary thyroid carcinoma OMIM:188550
Growth Delay-Hydrocephaly-Lung Hypoplasia Syndrome
Aqueductal stenosis, Abnormally ossified vertebrae, Abnormal rib morphology, Omphalocele, Intesti... ORPHA:3035
Spondyloenchondrodysplasia With Immune Dysregulation
Kyphoscoliosis, Tubulointerstitial fibrosis, T lymphocytopenia, Recurrent sinusitis, Lymphopenia,... OMIM:607944
Chromosome 17Q23.1-Q23.2 Deletion Syndrome
Postnatal growth retardation, Chalazion, Scoliosis, Pulmonary arterial hypertension, Short statur... OMIM:613355
Smooth Muscle Dysfunction Syndrome
Dilatation of the cerebral artery, Vascular dilatation, Common carotid artery aneurysm, Brachioce... OMIM:613834
Milroy Disease
Ankle swelling, Predominantly lower limb lymphedema, Lymphedema, Abnormal venous morphology, Cell... ORPHA:79452
Developmental And Epileptic Encephalopathy 66
Widely spaced teeth, Neutropenia, Dextrocardia, Anemia, Everted lower lip vermilion, Cryptorchidi... OMIM:618067
Brachyolmia Type 2
Platyspondyly, Short stature OMIM:613678
Dysraphism-Cleft Lip/Palate-Limb Reduction Defects Syndrome
Anencephaly, Non-midline cleft of the upper lip, Ectopic anus, Spina bifida, Cleft palate, Aplasi... ORPHA:2476
Holoprosencephaly 3
Central diabetes insipidus, Cyclopia, Solitary median maxillary central incisor, Cleft palate, Bi... OMIM:142945
Indomethacin Embryofetopathy
Abnormal renal tubule morphology, Hydrops fetalis, Renal insufficiency, Cardiomyopathy, Nephropat... ORPHA:1909
Short Stature-Deafness-Neutrophil Dysfunction-Dysmorphism Syndrome
Short stature, Craniosynostosis, Ectopic anus ORPHA:2866
Prader-Willi Syndrome
Small pituitary gland, Decreased circulating gonadotropin concentration, Hypertension, Hypogonadi... ORPHA:739
Bruck Syndrome 1
Ankle flexion contracture, Platyspondyly, Pterygium, Vertebral wedging, Pectus carinatum, Scolios... OMIM:259450
Dysostosis, Stanescu Type
Abnormal palate morphology, Increased bone mineral density, Abnormal dental enamel morphology, Sc... ORPHA:1798
Angioosteohypotrophic Syndrome
Hypoplasia of the ulna, Hypoplasia of the radius, Aplasia/hypoplasia involving bones of the upper... ORPHA:75508
Mosaic Trisomy 8
Narrow chest, Scoliosis, Vertebral segmentation defect, High palate, Limitation of joint mobility... ORPHA:96061
Holoprosencephaly, Semilobar, With Craniosynostosis
Semilobar holoprosencephaly, Lambdoidal craniosynostosis, Coronal craniosynostosis, Hypoplastic v... OMIM:601370
Intellectual Developmental Disorder With Dysmorphic Facies And Ptosis
Cervical C2/C3 vertebral fusion, Short philtrum, Narrow mouth, Camptodactyly, Short stature, Grow... OMIM:617333
Hyper-Ige Syndrome 3, Autosomal Recessive, With Recurrent Infections
Recurrent respiratory infections, High palate, Abnormality of the dentition, Bronchiectasis, Pulm... OMIM:618282
Second Metatarsal-Metacarpal Syndrome
Platyspondyly, Synostosis of carpals/tarsals OMIM:269630
Leprechaunism
Postnatal growth retardation, Rectal prolapse, Hyperinsulinemia, Hepatomegaly, Enlarged kidney, L... ORPHA:508
Autosomal Dominant Coarctation Of Aorta
Abnormal aortic arch morphology, Aortic arch aneurysm, Patent ductus arteriosus, Ventricular sept... ORPHA:1455
Stickler Syndrome
Reduced bone mineral density, Spondylolisthesis, Abnormal form of the vertebral bodies, Pectus ca... ORPHA:828
Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion
Retrognathia, Abnormality of the endocrine system, Pectus excavatum, Kyphosis, Premature thelarch... ORPHA:268261
Morquio Syndrome C
Platyspondyly, Severe short stature OMIM:252300
Wildervanck Syndrome
Fused cervical vertebrae, Pseudopapilledema OMIM:314600
Rhabdomyosarcoma, Embryonal, 2
Pleuropulmonary blastoma, Ovarian thecoma, Thyroid nodule, Multinodular goiter, Embryonal rhabdom... OMIM:180295
Crouzon Syndrome
Optic atrophy, Lambdoidal craniosynostosis, Hydrocephalus, Dental crowding, Mandibular prognathia... OMIM:123500
Klippel-Feil Syndrome 3, Autosomal Dominant
Cervical C3/C4 vertebral fusion, Cervical C5/C6 vertebrae fusion, Chorioretinal coloboma, Thoraci... OMIM:613702
Dyggve-Melchior-Clausen Disease
Pectus carinatum, Limited knee extension, Severe short stature, Abnormality of the vertebral endp... ORPHA:239
Renal Agenesis
Unilateral renal agenesis, Aplasia/Hypoplasia of the bladder, Bilateral renal agenesis, Hypertens... ORPHA:411709
Penile Agenesis
Anorectal anomaly, Tracheoesophageal fistula, Oligohydramnios, Cystic renal dysplasia, Abnormalit... ORPHA:49
Thyroid Cancer, Nonmedullary, 4
Goiter, Ovarian neoplasm, Papillary thyroid carcinoma OMIM:616534
Autoimmune Polyendocrinopathy Type 3
Macrocytic anemia, Biliary cirrhosis, Leukopenia, Type I diabetes mellitus, Aplasia/Hypoplasia of... ORPHA:227982
Hypoglossia-Hypodactyly Syndrome
Aplasia/Hypoplasia of fingers, Abnormal cranial nerve morphology, Adactyly, High palate, Narrow m... ORPHA:989
Coccidioidomycosis
Abnormality of the endocrine system, Cerebral ischemia, Pericarditis, Broad ribs, Osteolysis, Abn... ORPHA:228123
Tyshchenko Syndrome
Narrow palate, High, narrow palate, Polyhydramnios, Narrow chest, Thick hair, High palate, Pectus... OMIM:615102
Congenital Fibrinogen Deficiency
Prolonged prothrombin time, Abnormal bleeding, Hemorrhagic ovarian cyst, Gingival bleeding, Inter... ORPHA:335
Chime Syndrome
Aplasia/Hypoplasia of the phalanges of the toes, Microdontia, Sparse hair, Fine hair, Aplastic cl... ORPHA:3474
Camptodactyly With Muscular Hypoplasia, Skeletal Dysplasia, And Abnormal Palmar Creases
Inguinal hernia, Camptodactyly, Spina bifida, Mitral valve prolapse, Long philtrum, Small hypothe... OMIM:211960
Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans
Congestive heart failure, Disproportionate short stature, Urinary incontinence, Rhizomelia, Narro... OMIM:616482
Garg-Mishra Progeroid Syndrome
Postnatal growth retardation, Narrow chest, Dental crowding, Thin ribs, Microvesicular hepatic st... OMIM:620601
Saethre-Chotzen Syndrome
Narrow palate, Optic atrophy, Abnormal form of the vertebral bodies, Proximal radio-ulnar synosto... ORPHA:794
Mucolipidosis Type Ii
Cardiomyopathy, Kyphosis, Abnormal mitral valve morphology, Splenomegaly, Umbilical hernia, Left ... ORPHA:576
Alopecia, Neurologic Defects, And Endocrinopathy Syndrome
Kyphoscoliosis, Delayed puberty, Small pituitary gland, Short stature, Carious teeth, Reduced sub... OMIM:612079
Cortical Dysplasia, Complex, With Other Brain Malformations 15
Optic atrophy, Synophrys, Hypoplasia of the maxilla, Widely-spaced incisors, Thick eyebrow, Smoot... OMIM:618737
Congenital Disorder Of Glycosylation, Type Iiw
Prolonged prothrombin time, Pectus carinatum, Pectus excavatum, Prolonged neonatal jaundice, Sple... OMIM:619525
Jeune Syndrome
Abnormal clavicle morphology, Nephronophthisis, Narrow chest, Short thorax, Abnormal sternum morp... ORPHA:474
Solitary Rectal Ulcer Syndrome
Rectal prolapse, Anemia, Anal fissure, Hematochezia, Stercoral ulcer ORPHA:209964
Cutis Gyrata-Acanthosis Nigricans-Craniosynostosis Syndrome
Narrow palate, Optic atrophy, Hydrocephalus, Hypertension, Narrow mouth, Tooth agenesis, Cleft pa... ORPHA:1555
Fetal Iodine Deficiency Disorder
Congenital goiter, Congenital hypothyroidism OMIM:228355
Lethal Congenital Contracture Syndrome Type 1
Polyhydramnios, Abnormal form of the vertebral bodies, Limitation of joint mobility, Abnormal rib... ORPHA:1486
Autosomal Dominant Polycystic Kidney Disease
Enlarged kidney, Decreased glomerular filtration rate, Hypertension, Pituitary growth hormone cel... ORPHA:730
Hemihyperplasia-Multiple Lipomatosis Syndrome
Lipoatrophy, Enlarged kidney, Scoliosis, Abnormality of the lymphatic system, Abnormal venous mor... ORPHA:276280
Familial Adenomatous Polyposis
Lipoma, Eruption failure, Odontoma, Pituitary adenoma, Neoplasm of the gastrointestinal tract, De... ORPHA:733
Carpenter Syndrome 2
Retrognathia, Highly arched eyebrow, Pectus carinatum, Pectus excavatum, Umbilical hernia, Long p... OMIM:614976
Gurrieri Syndrome
Short stature, Hypoplastic acetabulae, Delayed skeletal maturation, Decreased anterioposterior di... OMIM:601187
Intellectual Disability-Facial Dysmorphism-Hand Anomalies Syndrome
Cervical C2/C3 vertebral fusion, Short distal phalanx of the thumb, Upper limb muscle weakness, S... ORPHA:370010
Pituitary Hormone Deficiency, Combined Or Isolated, 8
Decreased thyroid-stimulating hormone level, Anterior pituitary agenesis, Decreased circulating A... OMIM:620303
Platyspondylic Dysplasia, Torrance Type
Abnormal carpal morphology, Hydrops fetalis, Polyhydramnios, Narrow chest, Disproportionate short... ORPHA:85166
Lipodystrophy, Familial Partial, Type 7
Decreased adipose tissue around neck, Polyuria, Orthostatic hypotension, Loss of subcutaneous adi... OMIM:606721
Pseudoxanthoma Elasticum
Congestive heart failure, Gastrointestinal hemorrhage, Coronary artery atherosclerosis, Angina pe... OMIM:264800
Temtamy Preaxial Brachydactyly Syndrome
Synostosis of carpals/tarsals, Microdontia, Abnormal optic disc morphology, Abnormal spaced incis... ORPHA:363417
Blepharochalasis And Double Lip
Goiter, Duplication of the upper lip, Blepharochalasis OMIM:109900
Sarcoidosis
Increased T cell count, Nephrocalcinosis, Leukopenia, Enlarged lacrimal glands, Diabetes insipidu... ORPHA:797
Desbuquois Dysplasia 2
Dental crowding, Pectus carinatum, Flat acetabular roof, Pectus excavatum, Knee dislocation, Shor... OMIM:615777
Microcephalic Primordial Dwarfism, Toriello Type
Abnormal rib morphology, Delayed skeletal maturation, Enamel hypoplasia, Downturned corners of mo... ORPHA:2643
Goiter, Multinodular 1, With Or Without Sertoli-Leydig Cell Tumors
Euthyroid multinodular goiter, Papillary thyroid carcinoma OMIM:138800
Osteogenesis Imperfecta, Type I
Osteopenia, Aortic aneurysm, Otosclerosis, Biconcave flattened vertebrae, Dentinogenesis imperfec... OMIM:166200
Liver Disease, Severe Congenital
Left atrial enlargement, Nail dystrophy, Lymphocytosis, Ascites, Biliary hyperplasia, Leukopenia,... OMIM:619991
Holoprosencephaly 12 With Or Without Pancreatic Agenesis
Semilobar holoprosencephaly, Diabetes insipidus, High palate, Pancreatic aplasia, Growth delay, L... OMIM:618500
Megalencephaly
Genu valgum, Long penis, Delayed skeletal maturation, Short neck, Atrial septal defect, Macroorch... ORPHA:2477
Radial Aplasia, X-Linked
Absent radius, Penile hypospadias, Hydrocephalus, Anal atresia OMIM:312190
Hypomandibular Faciocranial Dysostosis
Polyhydramnios, Recurrent respiratory infections, Maxillozygomatic hypoplasia, Narrow mouth, Bifi... ORPHA:1790
Thyroid Lymphoma
Lymphadenopathy, Hypothyroidism, Hashimoto thyroiditis, Hyperthyroidism, Dysphagia, Goiter ORPHA:97285
Osteoglophonic Dysplasia
Eruption failure, Pectus excavatum, Short metacarpal, Severe short stature, Long philtrum, Cranio... OMIM:166250
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia
Rhizomelia, 11 pairs of ribs, Hydrocephalus, Thin ribs, Hypoplasia of the calcaneus, Decreased sk... OMIM:300863
Spondylomegaepiphyseal Dysplasia With Upper Limb Mesomelia, Punctate Calcifications, And Deafness
Beaking of vertebral bodies, Disproportionate short stature, Mesomelic arm shortening, Scoliosis,... OMIM:609616
Spondyloocular Syndrome
Osteopenia, Duodenal ulcer, Femur fracture, Vertebral compression fracture, Pectus carinatum, Lym... OMIM:605822
Autoimmune Polyendocrinopathy Type 4
Osteopenia, Central diabetes insipidus, Abnormal pulmonary interstitial morphology, Aplasia/Hypop... ORPHA:227990
Mosaic Variegated Aneuploidy Syndrome 3
Growth delay, Short stature, Cleft palate, Nephroblastoma, Arthrogryposis multiplex congenita, Ho... OMIM:617598
Neural Tube Defects, Susceptibility To
Sacral dimple, Urinary incontinence, Anencephaly, Spina bifida occulta, Lipoma, Hydrocephalus, As... OMIM:182940
Sirenomelia
Renal hypoplasia/aplasia, Sirenomelia, Tracheoesophageal fistula, Anal atresia, Spina bifida, Abs... ORPHA:3169
Thyroid Hormone Plasma Membrane Transport Defect
Euthyroid hyperthyroxinemia, Goiter OMIM:188560
Deiodinase, iodothyronine, type I
Euthyroid hyperthyroxinemia, Goiter OMIM:147892
Carney Complex
Ductal carcinoma in situ, Neoplasm of the stomach, Neoplasm of the pancreas, Hypertension, Pituit... ORPHA:1359
Spastic Paraplegia 16, X-Linked
Urinary incontinence, Facial hypotonia, Lower limb amyotrophy, Urinary bladder sphincter dysfunct... OMIM:300266
Porencephaly, Cerebellar Hypoplasia, And Internal Malformations
Situs inversus totalis, Atrial septal defect, Tetralogy of Fallot OMIM:601322
Radial-Renal Syndrome
Ectopic kidney, Unilateral renal agenesis, Short stature, Absent thumb, Absent radius OMIM:179280
Pseudoachondroplasia
Disproportionate short-limb short stature, Short metacarpal, Kyphosis, Joint hypermobility, Limit... OMIM:177170
Cardioacrofacial Dysplasia 1
Atrioventricular canal defect, Genu valgum, Short philtrum, Conical tooth, Hypoplasia of the maxi... OMIM:619142
Geroderma Osteodysplasticum
Kyphoscoliosis, Biconcave vertebral bodies, Severe short stature, Abnormal hair morphology, Abnor... OMIM:231070
8Q22.1 Microdeletion Syndrome
Highly arched eyebrow, Limitation of joint mobility, Abnormality of the dentition, Hypoplasia of ... ORPHA:178303
Amish Lethal Microcephaly
Optic atrophy, Hepatomegaly, Cleft soft palate, Limb hypertonia, Limitation of joint mobility, De... ORPHA:99742
Chromosome 17P13.1 Deletion Syndrome
Highly arched eyebrow, Everted lower lip vermilion, Umbilical hernia, Joint hypermobility, Oligoh... OMIM:613776
Spondyloperipheral Dysplasia-Short Ulna Syndrome
Limited elbow extension, Hypoplasia of the ulna, Disproportionate short stature, Delayed pubic bo... ORPHA:1856
Slc39A13-Related Spondylodysplastic Ehlers-Danlos Syndrome
Osteopenia, Thenar muscle atrophy, Flexion contracture, Short femoral neck, Moderately short stat... ORPHA:157965
Townes-Brocks Syndrome 2
Hypospadias, Rectovaginal fistula, Spina bifida occulta, Scoliosis, Vesicoureteral reflux, Anal a... OMIM:617466
Elsahy-Waters Syndrome
Cervical C2/C3 vertebral fusion, Pectus excavatum, Bifid uvula, Broad philtrum, Abnormality of th... OMIM:211380
Gjc2-Related Late-Onset Primary Lymphedema
Ankle swelling, Facial edema, Edema of the dorsum of hands, Hypoplasia of lymphatic vessels, Veno... ORPHA:568051
46,Xx Sex Reversal 5
Increased serum testosterone level, Aplasia of the left hemidiaphragm, Urogenital sinus anomaly, ... OMIM:618901
Leopard Syndrome 1
Kyphoscoliosis, Limited elbow movement, Delayed puberty, Hypoplasia of the ovary, Pectus carinatu... OMIM:151100
Cerebrocostomandibular Syndrome
Bell-shaped thorax, Hydranencephaly, Meningocele, Short hard palate, Tracheomalacia, Glossoptosis... ORPHA:1393
Gaucher Disease
Delayed puberty, Joint stiffness, Delayed skeletal maturation, Leukopenia, Dysphagia, Splenomegal... ORPHA:355
Otospondylomegaepiphyseal Dysplasia, Autosomal Recessive
Beaking of vertebral bodies, Platyspondyly, Premature osteoarthritis, Short stature, Short palm, ... OMIM:215150
Spondylometaphyseal Dysplasia, Kozlowski Type
Kyphoscoliosis, Carpal bone hypoplasia, Pectus carinatum, Delayed ossification of carpal bones, S... OMIM:184252
Dietary Iron Overload Disease
Abnormal adrenal morphology, Congestive heart failure, Hepatomegaly, Abnormal pancreas morphology... ORPHA:139507
Spondyloepiphyseal Dysplasia, Kimberley Type
Short thorax, Proportionate short stature, Micromelia, Osteoarthritis, Platyspondyly ORPHA:93283
Ollier Disease
Anemia, Bone pain, Micromelia, Joint stiffness, Precocious puberty, Lymphangioma, Platyspondyly, ... ORPHA:296
Coffin-Siris Syndrome 5
Thick lower lip vermilion, Short philtrum, Dandy-Walker malformation, Dystrophic toenail, Intraut... OMIM:616938
Intellectual Developmental Disorder With Hypotonia And Behavioral Abnormalities
Patent foramen ovale, Ventricular septal defect, Rectoperineal fistula, Coarctation of aorta, Tet... OMIM:618748
Platyspondylic Lethal Skeletal Dysplasia, Torrance Type
Neonatal short-limb short stature, Stillbirth, Decreased cranial base ossification, Polyhydramnio... OMIM:151210
Hamamy Syndrome
Everted lower lip vermilion, Pectus excavatum, Low posterior hairline, Wide mouth, Sparse hair, P... OMIM:611174
Neonatal Marfan Syndrome
Lipoatrophy, Tricuspid valve prolapse, High, narrow palate, Emphysema, Abnormal cardiac ventricle... ORPHA:284979
Distichiasis With Congenital Anomalies Of The Heart And Peripheral Vasculature
Distichiasis, Sinus bradycardia, Peripheral arterial stenosis, Patent ductus arteriosus, Varicose... OMIM:126320
Neurofibromatosis, Type I
Aqueductal stenosis, Rhabdomyosarcoma, Genu valgum, Spinal neurofibroma, Hydrocephalus, Pheochrom... OMIM:162200
Bent Bone Dysplasia Syndrome 2
Osteopenia, Butterfly vertebrae, Hepatomegaly, Short 1st metacarpal, Hypoplastic acetabulae, Thin... OMIM:620076
Familial Congenital Mirror Movements
Fused cervical vertebrae, Hypogonadotropic hypogonadism, Agenesis of corpus callosum ORPHA:238722
Van Der Woude Syndrome
Abnormal salivary gland morphology, Cleft upper lip, Cleft palate, Hypodontia, Lower lip pit, Lip... ORPHA:888
Deafness, Autosomal Recessive 4, With Enlarged Vestibular Aqueduct
Goiter OMIM:600791
Fibrochondrogenesis 2
Bell-shaped thorax, Short ribs, Cupped ribs, Micrognathia, Thoracic hypoplasia, Malar flattening,... OMIM:614524
Spondyloepiphyseal Dysplasia-Brachydactyly And Distinctive Speech
Disproportionate short-limb short stature, Anterior scalloping of vertebral bodies, Pectus excava... OMIM:611717
Distal Limb Deficiencies-Micrognathia Syndrome
Tarsal synostosis, Abnormality of the wrist, Aplasia/Hypoplasia of the thumb, High palate, Narrow... ORPHA:1307
Meckel Syndrome, Type 7
Situs inversus totalis, Multiple glomerular cysts, Inguinal hernia, Multicystic kidney dysplasia,... OMIM:267010
Pendred Syndrome
Thyroid carcinoma, Hypothyroidism, Goiter, Nephropathy, Hyperparathyroidism ORPHA:705
Schinzel-Giedion Midface Retraction Syndrome
Ureteral stenosis, Short distal phalanx of finger, Increased density of long bones, Ventriculomeg... OMIM:269150
Geroderma Osteodysplastica
Beaking of vertebral bodies, Abnormal bone ossification, Platyspondyly, Vertebral compression fra... ORPHA:2078
Intellectual Developmental Disorder, Autosomal Dominant 70
Retrognathia, Retinal telangiectasia, Hydrocephalus, Optic nerve hypoplasia, Mandibular prognathi... OMIM:620157
Alzahrani-Kuwahara Syndrome
Hypospadias, Hypodontia, Narrow philtrum, Patent foramen ovale, Coronary sinus enlargement, Optic... OMIM:619268
Alfadhel Syndrome
Thin vermilion border, Retrognathia, Short philtrum, Highly arched eyebrow, Short stature, Smooth... OMIM:620655
Buratti-Harel Syndrome
Atrial septal defect, Dilation of Virchow-Robin spaces, Hypospadias, Gastroesophageal reflux, Hig... OMIM:619314
Craniorachischisis
Congenital diaphragmatic hernia, Sirenomelia, Anencephaly, Bifid sternum, Myelomeningocele, Anal ... ORPHA:63260
Nail-Patella Syndrome
Pectus excavatum, Patellar dislocation, Scoliosis, Biceps aplasia, Short stature, Back pain, Clef... OMIM:161200
Acces Syndrome
Retrognathia, Sparse scalp hair, Tracheoesophageal fistula, Recurrent respiratory infections, Sup... OMIM:619959
Achondrogenesis, Type Ia
Hypoplastic sacrum, Abnormal foot bone ossification, Broad clavicles, Abnormal hand bone ossifica... OMIM:200600
Ventricular Septal Defect 3
Pulmonary artery stenosis, Atrial septal defect, Ventricular septal defect, Patent ductus arteriosus OMIM:614432
Multiple Synostoses Syndrome 1
Proximal/middle symphalangism of 5th toe, Dislocated radial head, Pectus excavatum, Short lower l... OMIM:186500
Telangiectasia, Hereditary Hemorrhagic, Type 4
Tongue telangiectasia, Ischemic stroke, Spinal arteriovenous malformation, High-output congestive... OMIM:610655
Noonan Syndrome 3
Tricuspid valve prolapse, Juvenile myelomonocytic leukemia, Polyhydramnios, Pectus carinatum, Pat... OMIM:609942
Noonan Syndrome 11
Pectus excavatum, Hypertrophic cardiomyopathy, Pulmonic stenosis, Short stature, Thick vermilion ... OMIM:618499
Craniolenticulosutural Dysplasia
Thin vermilion border, Narrow chest, Delayed eruption of teeth, Brittle hair, Premature loss of t... ORPHA:50814
Orofaciodigital Syndrome Ii
Hydrocephalus, Scoliosis, High palate, Pectus excavatum, Agenesis of central incisor, Hypoplasia ... OMIM:252100
Ulnar/Fibula Ray Defect-Brachydactyly Syndrome
Growth delay, Short stature, Malar flattening, Short 5th finger, Atrial septal defect, Aplasia/Hy... ORPHA:52056
Imperforate Oropharynx-Costovertebral Anomalies Syndrome
Polyhydramnios, Recurrent respiratory infections, Abnormal form of the vertebral bodies, Abnormal... ORPHA:2759
Trisomy X
Renal hypoplasia/aplasia, Pectus excavatum, Precocious puberty, Joint hypermobility, Atrial septa... ORPHA:3375
Meckel Syndrome, Type 4
Anencephaly, Encephalocele, Meningocele, Hydrocephalus, Dandy-Walker malformation, Renal cyst, Bi... OMIM:611134
Thauvin-Robinet-Faivre Syndrome
Renal malrotation, Inguinal hernia, Coloboma, Renal cyst, Retinal coloboma, Transient neutropenia... OMIM:617107
Multiple Synostoses Syndrome 2
Finger symphalangism, Tarsal synostosis, Proximal symphalangism, Humeroradial synostosis, Carpal ... OMIM:610017
Goiter, Multinodular 2
Euthyroid multinodular goiter OMIM:300273
Meier-Gorlin Syndrome 3
Absent sternal ossification, Short ribs, Delayed skeletal maturation, Sparse axillary hair, Intra... OMIM:613803
Enthesitis-Related Juvenile Idiopathic Arthritis
Thickened Achilles tendon, Abnormal heart morphology, Mitral valve prolapse, Aortic regurgitation... ORPHA:85438
Osteogenesis Imperfecta, Type Ii
Absent ossification of calvaria, Pulmonary insufficiency, Congestive heart failure, Bell-shaped t... OMIM:166210
Genitopatellar Syndrome
Knee flexion contracture, Delayed eruption of teeth, Gastroesophageal reflux, Sparse scalp hair, ... ORPHA:85201
Posterior Fusion Of Lumbosacral Vertebrae-Blepharoptosis Syndrome
Sacral dimple, Posterior fusion of lumbosacral vertebrae, Tarsal synostosis, Abnormal form of the... ORPHA:2064
Thyrotoxic Periodic Paralysis, Susceptibility To, 1
Palpitations, Rhabdomyolysis, Hyperthyroidism, Tachycardia, Goiter OMIM:188580
Neurocardiofaciodigital Syndrome
Thin vermilion border, Retrognathia, Double inlet left ventricle, Vesicoureteral reflux, High pal... OMIM:619869
Meningioma
Urinary incontinence, Neoplasm of the tongue, Upper limb muscle weakness, Decreased circulating c... ORPHA:2495
Von Hippel-Lindau Disease
Neoplasm of the pancreas, Hypertension, Cardiomyopathy, Upper limb muscle weakness, Multiple rena... ORPHA:892
Grant Syndrome
Abnormal palate morphology, Narrow chest, Joint dislocation, Wormian bones, Open bite, Decreased ... ORPHA:2097
Gorlin-Chaudhry-Moss Syndrome
Oligodontia, Abnormality of the dentition, Hypoplasia of the maxilla, Umbilical hernia, Coronal c... ORPHA:2095
Spondylometaphyseal Dysplasia With Cone-Rod Dystrophy
Postnatal growth retardation, Short finger, Rhizomelia, Scoliosis, Cupped ribs, Short metacarpal,... OMIM:608940
Unilateral Polymicrogyria
Stroke, Pseudobulbar paralysis, Abnormal heart morphology, Epistaxis, Giant somatosensory evoked ... ORPHA:268943
Juvenile Polyposis/Hereditary Hemorrhagic Telangiectasia Syndrome
Hepatic arteriovenous malformation, Gastrointestinal carcinoma, Anemia, Aortic aneurysm, Telangie... OMIM:175050
Wiskott-Aldrich Syndrome
Hematemesis, Spontaneous hematomas, Sinusitis, Epistaxis, Hematochezia, Bruising susceptibility, ... ORPHA:906
Hartsfield Syndrome
Semilobar holoprosencephaly, Hypospadias, Diabetes insipidus, Alobar holoprosencephaly, Hypoplasi... OMIM:615465
Congenital Aortic Valve Stenosis
Abnormal T-wave, Abnormal left ventricular function, Reduced left ventricular ejection fraction, ... ORPHA:3093
Smith-Mccort Dysplasia 1
Beaking of vertebral bodies, Genu valgum, Barrel-shaped chest, Hypoplastic acetabulae, Scoliosis,... OMIM:607326
Spondylometaphyseal Dysplasia, Schmidt Type
Kyphoscoliosis, Abnormality of the wrist, Genu valgum, Polyhydramnios, Cleft soft palate, Abnorma... ORPHA:93316
Chronic Recurrent Multifocal Osteomyelitis 2, With Periostitis And Pustulosis
Osteopenia, Hepatomegaly, Osteolysis, Fused cervical vertebrae, Stomatitis, Flaring of rib cage, ... OMIM:612852
Hall-Riggs Syndrome
Thick hair, Delayed eruption of teeth, Slow-growing hair, Abnormal dental enamel morphology, Scol... ORPHA:2107
Primary Non-Essential Cutis Verticis Gyrata
Scoliosis, Atrial septal defect, Ventricular septal defect, Keloids ORPHA:357225
3Q29 Microduplication Syndrome
Aniridia, Ectopic anus, High palate, Abnormality of the dentition, Camptodactyly of toe, Short ne... ORPHA:251038
Dentinogenesis Imperfecta-Short Stature-Hearing Loss-Intellectual Disability Syndrome
Short philtrum, Delayed eruption of teeth, Osteoporosis, Short stature, Dentinogenesis imperfecta... ORPHA:71267
Yunis-Varon Syndrome
Absent sternal ossification, Broad alveolar ridges, Cardiomyopathy, Decreased skull ossification,... OMIM:216340
Multifocal Atrial Tachycardia
Atrial flutter, Tachycardia, Atrial fibrillation, Effort-induced polymorphic ventricular tachycar... ORPHA:3282
Atelosteogenesis Type Iii
Fibular aplasia, Polyhydramnios, Absent radius, Epiphyseal stippling of the humerus, Short tibia,... ORPHA:56305
Intellectual Developmental Disorder, Autosomal Dominant 72
Facial hypotonia, Spina bifida, Renal hypoplasia, Smooth philtrum, Short neck, Micropenis, Thin u... OMIM:620439
Van Den Ende-Gupta Syndrome
Dislocated radial head, Dental crowding, Short ribs, Everted lower lip vermilion, Pectus excavatu... OMIM:600920
Severe Hereditary Thrombophilia Due To Congenital Protein C Deficiency
Abnormal cerebral vascular morphology, Purpura, Pulmonary embolism, Venous insufficiency ORPHA:745
Atrial Septal Defect 2
Atrioventricular canal defect, Dextrocardia, Aortic regurgitation, Pulmonic stenosis, Patent duct... OMIM:607941
Glutaric Aciduria Iii
Goiter, Glutaric aciduria, Hypertension, Hyperthyroidism OMIM:231690
Severe Hereditary Thrombophilia Due To Congenital Protein S Deficiency
Purpura, Venous insufficiency, Subcutaneous hemorrhage, Abnormal cerebral vascular morphology, Pu... ORPHA:743
Thoracic Outlet Syndrome
Edema, Varicose veins, Abnormal rib morphology ORPHA:97330
Ifap Syndrome 1, With Or Without Bresheck Syndrome
Corneal neovascularization, Nail dystrophy, Hypertension, Umbilical hernia, Ventriculomegaly, Oli... OMIM:308205
Fetal Akinesia Deformation Sequence 1
Wrist flexion contracture, Nonimmune hydrops fetalis, Thoracic hypoplasia, Long philtrum, Intraut... OMIM:208150
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 3
Hypoplasia of the ulna, Multiple joint dislocation, Carpal bone hypoplasia, Platyspondyly, Disloc... OMIM:618395
Temple-Baraitser Syndrome
Gastroesophageal reflux, Pulmonic stenosis, Short distal phalanx of finger, Downturned corners of... OMIM:611816
Mckusick-Kaufman Syndrome
Aganglionic megacolon, Hydroureter, Rectovaginal fistula, Vesicovaginal fistula, Polycystic kidne... OMIM:236700
Cleft Palate-Congenital Heart Defect-Intellectual Disability Syndrome Due To 15Q14 Microdeletion
Short philtrum, Inguinal hernia, Scoliosis, Abnormality of the dentition, Kyphosis, Short stature... ORPHA:261190
Shiga Toxin-Associated Hemolytic Uremic Syndrome
Acute kidney injury, Rectal prolapse, Pancreatitis, Acute colitis, Anuria, Intestinal perforation... ORPHA:90038
Crimean-Congo Hemorrhagic Fever
Hematemesis, Spontaneous hematomas, Bradycardia, Hypertension, Inappropriate antidiuretic hormone... ORPHA:99827
Spondyloperipheral Dysplasia
Rhizomelic leg shortening, Pectus carinatum, Flat acetabular roof, Short distal phalanx of the 2n... OMIM:271700
Lumbar Syndrome
Hypospadias, Ectopic anus, Vesicoureteral reflux, Anal atresia, Myelomeningocele, Spina bifida, R... ORPHA:83628
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Leptodactylic Type
Kyphoscoliosis, Multiple joint dislocation, Kyphosis, Joint hypermobility, Genu varum, Hip disloc... ORPHA:93360
Beta-Ureidopropionase Deficiency
Elevated urinary ureidoisobutyric acid level, Scoliosis, Elevated urinary N-carbamyl-beta-aminois... OMIM:613161
17Q12 Microduplication Syndrome
Polyhydramnios, Abnormal vertebral morphology, Tracheoesophageal fistula, Synophrys, Cleft palate... ORPHA:261272
Osteogenesis Imperfecta, Type Xvi
Osteopenia, Platyspondyly, Rhizomelia, Narrow chest, Vertebral compression fracture, Recurrent fr... OMIM:616229
Mandibulofacial Dysostosis-Microcephaly Syndrome
Accessory oral frenulum, Hypoplasia of the maxilla, Short stature, Micrognathia, Cleft palate, Ma... ORPHA:79113
Denys-Drash Syndrome
Congenital diaphragmatic hernia, Enlarged kidney, Wide anterior fontanel, Hypertension, Nephropat... OMIM:194080
Spondyloepiphyseal Dysplasia Tarda, Autosomal Dominant
Kyphoscoliosis, Barrel-shaped chest, Childhood-onset short-trunk short stature, Pectus carinatum,... OMIM:184100
Metaphyseal Chondrodysplasia, Schmid Type
Abnormal vertebral morphology, Disproportionate short-limb short stature, Osteosclerosis of ribs,... ORPHA:174
Neurodegeneration With Developmental Delay, Early Respiratory Failure, Myoclonic Seizures, And Brain Abnormalities
Limb hypertonia, Patent foramen ovale, Hydronephrosis, Limb joint contracture, Patent ductus arte... OMIM:620327
Spondyloepimetaphyseal Dysplasia, Borochowitz-Cormier-Daire Type
Limited elbow extension, Disproportionate short-limb short stature, Flat acetabular roof, Pectus ... OMIM:608728
Thyrotoxic Periodic Paralysis, Susceptibility To, 2
Increased circulating T4 concentration, Decreased thyroid-stimulating hormone level, Hyperthyroid... OMIM:613239
Monosomy 13Q14
Abnormality of the gastrointestinal tract, Aplasia/Hypoplasia of the thumb, Short stature, Microg... ORPHA:1587
Cerebral Arteriopathy, Autosomal Dominant, With Subcortical Infarcts And Leukoencephalopathy, Type 1
Nonarteritic anterior ischemic optic neuropathy, Urinary incontinence, Stroke, Vascular granular ... OMIM:125310
Osteogenesis Imperfecta, Type Xxiii
Osteopenia, Genu valgum, Reduced bone mineral density, Torticollis, Short stature, Shallow acetab... OMIM:620639
Familial Visceral Myopathy
Abdominal situs inversus, Aganglionic megacolon, Hydroureter, Narrow chest, Aplasia/Hypoplasia of... ORPHA:2604
Isolated Exencephaly
Polyhydramnios, Maternal diabetes, Abnormal facial skeleton morphology, Anterior pituitary hypopl... ORPHA:563612
Cystic Fibrosis
Steatorrhea, Rectal prolapse, Pancreatitis, Cirrhosis, Hepatomegaly, Hypercalciuria, Meconium ile... OMIM:219700
Gitelman Syndrome
Delayed puberty, Neoplasm of the pancreas, Prolonged QT interval, Urinary incontinence, Prominent... ORPHA:358
Neurofibromatosis Type 1 Due To Nf1 Mutation Or Intragenic Deletion
Kyphoscoliosis, Renal hypoplasia/aplasia, Spinal neurofibroma, Abnormal renal morphology, Hyperlo... ORPHA:363700
Intellectual Developmental Disorder, Autosomal Recessive 68
Hypoplasia of the maxilla, Broad eyebrow, Hydrocephalus, Synophrys OMIM:618302
Lymphedema-Distichiasis Syndrome
Abnormality of the pulmonary vasculature, Glomerulopathy, Patent ductus arteriosus, Predominantly... ORPHA:33001
Nablus Mask-Like Facial Syndrome
Retrognathia, Highly arched eyebrow, Everted lower lip vermilion, Sparse hair, Long philtrum, Cra... OMIM:608156
Transketolase Deficiency
Hepatomegaly, Increased level of ribose in urine, Patent foramen ovale, Renal cyst, Proportionate... ORPHA:488618
Fibrous Dysplasia Of Bone
Precocious puberty in females, Abnormality of the endocrine system, Ovarian cyst, Pathologic frac... ORPHA:249
Melnick-Needles Syndrome
Kyphoscoliosis, Pectus excavatum, Ureteral stenosis, Short humerus, Mitral valve prolapse, Short ... OMIM:309350
Posterior Column Ataxia-Retinitis Pigmentosa Syndrome
Abnormal peripheral nerve morphology by anatomical site, Axonal degeneration, Scoliosis, Camptoda... ORPHA:88628
Bruck Syndrome 2
Osteopenia, Platyspondyly, Inguinal hernia, Pterygium, Pectus carinatum, Elbow flexion contractur... OMIM:609220
Cole-Carpenter Syndrome
Abnormal form of the vertebral bodies, Delayed eruption of teeth, Abnormal dental enamel morpholo... ORPHA:2050
Phakomatosis Pigmentokeratotica
Rhabdomyosarcoma, Hypophosphatemic rickets, Pheochromocytoma, Scoliosis, Coloboma, Renal transiti... ORPHA:2874
Familial Colorectal Cancer Type X
Neoplasm of the thyroid gland, Gastrointestinal hemorrhage, Neoplasm of the pancreas, Neoplasm of... ORPHA:440437
Ramos-Arroyo Syndrome
High anterior hairline, Aganglionic megacolon, Smooth tongue, Narrow mouth, Abnormal autonomic ne... ORPHA:1051
Zechi-Ceide Syndrome
Thin vermilion border, Short metatarsal, Short philtrum, Thick hair, Oligodontia, Mandibular prog... ORPHA:217017
Achondroplasia
Limited elbow extension, Neonatal short-limb short stature, Polyhydramnios, Rhizomelia, Hydroceph... OMIM:100800
Treacher Collins Syndrome 1
Preauricular hair displacement, Cleft soft palate, Narrow mouth, Micrognathia, Cleft palate, Abno... OMIM:154500
Spondyloepimetaphyseal Dysplasia, Sponastrime Type
Kyphoscoliosis, Disproportionate short-limb short stature, Delayed ossification of carpal bones, ... OMIM:271510
Eisenmenger Syndrome
Aortopulmonary window, Ascites, Left-to-right shunt, Abnormal heart morphology, Heart murmur, Abn... ORPHA:97214
Medullary Thyroid Carcinoma
Abnormal liver parenchyma morphology, Lymphadenopathy, Pheochromocytoma, Neoplasm of the lung, Pr... ORPHA:1332
Penoscrotal Transposition
Penoscrotal transposition, Hypospadias, Pectus carinatum, Cardiomyopathy, Abnormality of the uret... ORPHA:2842
Rothmund-Thomson Syndrome, Type 2
Kyphoscoliosis, Premature graying of hair, Nail dystrophy, Microdontia, Agenesis of permanent tee... OMIM:268400
Alazami Syndrome
Postnatal growth retardation, Widely spaced teeth, Short philtrum, Scoliosis, Sparse eyebrow, Wid... ORPHA:319671
Frontonasal Dysplasia-Severe Microphthalmia-Severe Facial Clefting Syndrome
Pectoral muscle hypoplasia/aplasia, Hypoplasia of the frontal bone, Hypoplasia of the maxilla, Ca... ORPHA:306542
Geleophysic Dysplasia 1
Pectus excavatum, Wrist flexion contracture, Aortic valve stenosis, Joint stiffness, Delayed skel... OMIM:231050
Infantile Multisystem Neurologic-Endocrine-Pancreatic Disease
Delayed puberty, Abnormal liver parenchyma morphology, Decreased sensory nerve conduction velocit... ORPHA:456312
Spondyloepiphyseal Dysplasia, Maroteaux Type
Kyphoscoliosis, Genu valgum, Pectus carinatum, Generalized osteoporosis, Shield chest, Atlantoaxi... OMIM:184095
Craniofacial-Deafness-Hand Syndrome
Abnormality of the wrist, Narrow mouth, Hypoplasia of the maxilla, Camptodactyly of finger, Ulnar... ORPHA:1529
Spondylometaepiphyseal Dysplasia, Short Limb-Hand Type
Disproportionate short-limb short stature, Pectus carinatum, Short ribs, Pectus excavatum, Short ... OMIM:271665
Smith-Mccort Dysplasia 2
Limited elbow extension, Genu valgum, Barrel-shaped chest, Short metatarsal, Pectus carinatum, Ma... OMIM:615222
Methylmalonic Aciduria And Homocystinuria, Cblf Type
Hepatomegaly, Anemia, Dextrocardia, Pancytopenia, Stomatitis, Glossitis, Megaloblastic anemia, Cy... OMIM:277380
Renal Nutcracker Syndrome
Anemia, Orthostatic hypotension, Hematuria, Tachycardia, Syncope, Renal artery stenosis, Abnormal... ORPHA:71273
Developmental And Epileptic Encephalopathy 90
Limb hypertonia, Hypothyroidism, Fetal pyelectasis, Ankle clonus, Atrial septal defect OMIM:301058
Sim1-Related Prader-Willi-Like Syndrome
Small pituitary gland, Hypogonadism, Hypothalamic luteinizing hormone-releasing hormone deficienc... ORPHA:398079
Autoinflammatory Disease, Systemic, With Vasculitis
Small vessel vasculitis, Cholestasis, Increased T cell count, Splenomegaly, Cardiomegaly, Intraut... OMIM:620376
Hydrolethalus Syndrome 1
Anencephaly, Intrauterine growth retardation, Hypospadias, Accessory spleen, Dandy-Walker malform... OMIM:236680
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Intermediate Form
Delayed puberty, Anemia, Anal fissure, Gastroesophageal reflux, Esophageal stenosis, Narrow mouth... ORPHA:89842
Progressive Pseudorheumatoid Dysplasia
Kyphoscoliosis, Arthropathy, Enlarged interphalangeal joints, Osteoporosis, Joint stiffness, Camp... OMIM:208230
Granulomatous Disease, Chronic, Autosomal Recessive, 5
Perianal abscess, Anal fissure, Recurrent tonsillitis, Lymphadenopathy, Oral ulcer, Crohn's disea... OMIM:618935
Onychodystrophy, Osteodystrophy, Impaired Intellectual Development, And Seizures Syndrome
Short distal phalanx of toe, Narrow mouth, Microdontia, Precocious puberty, Micrognathia, Open mo... OMIM:619356
Chromosome 15Q14 Deletion Syndrome
Atrial septal defect, Short philtrum, Highly arched eyebrow, Recurrent viral upper respiratory tr... OMIM:616898
Spondyloepiphyseal Dysplasia Tarda, Autosomal Recessive
Platyspondyly, Osteoarthritis, Hip osteoarthritis, Short stature OMIM:271600
Holzgreve Syndrome
Renal hypoplasia/aplasia, Abnormally ossified vertebrae, Abnormal rib morphology, Joint stiffness... ORPHA:2167
Thymic Carcinoma
Palpebral edema, Mediastinal lymphadenopathy, Abnormal vena cava morphology, Neoplasm of the thym... ORPHA:99868
Retinitis Pigmentosa With Or Without Skeletal Anomalies
High anterior hairline, Short metacarpal, Renal cyst, Short stature, Sparse eyelashes, Micrognath... OMIM:250410
21Q22.11Q22.12 Microdeletion Syndrome
Postnatal growth retardation, Nail dystrophy, Thick lower lip vermilion, Sacral dimple, Anemia, A... ORPHA:261323
Osteogenesis Imperfecta, Type Xv
Platyspondyly, Thin ribs, Scoliosis, Short stature, Joint hypermobility, Bowing of limbs due to m... OMIM:615220
Immunodeficiency 87 And Autoimmunity
Hypertension, Cholestasis, Ascites, Lymphopenia, Intrauterine growth retardation, Anasarca, Hepat... OMIM:619573
Stickler Syndrome, Type Iv
Genu valgum, Platyspondyly, Intervertebral space narrowing, Scoliosis, Short metacarpal, Short st... OMIM:614134
Hemorrhagic Fever-Renal Syndrome
Hematemesis, Decreased glomerular filtration rate, Chronic kidney disease, Decreased urine output... ORPHA:340
Nevus Comedonicus Syndrome
Abnormal vertebral morphology, Spina bifida occulta, Abnormal hair morphology, Scoliosis, Spina b... ORPHA:64754
Radio-Renal Syndrome
Retrognathia, High, narrow palate, Hypoplasia of the radius, Renal hypoplasia/aplasia, Abnormal f... ORPHA:3015
Rapp-Hodgkin Syndrome
Nail dystrophy, Decreased number of sweat glands, Microdontia, Bifid uvula, Sparse hair, Small, c... OMIM:129400
Ear-Patella-Short Stature Syndrome
Retrognathia, Hypoplasia of penis, Delayed skeletal maturation, Bifid uvula, Severe short stature... ORPHA:2554
Angelman Syndrome
Widely spaced teeth, Mandibular prognathia, Scoliosis, Protruding tongue, Hypoplasia of the maxil... OMIM:105830
Metaphyseal Chondrodysplasia, Schmid Type
Genu valgum, Mild short stature, Scoliosis, Irregular acetabular roof, Proportionate short statur... OMIM:156500
Neurocutaneous Melanocytosis
Renal hypoplasia/aplasia, Meningocele, Dandy-Walker malformation, Generalized hirsutism, Choriore... ORPHA:2481
Spondyloepiphyseal Dysplasia Tarda, X-Linked
Postnatal growth retardation, Barrel-shaped chest, Hip osteoarthritis, Scoliosis, Limitation of j... OMIM:313400
Osteogenesis Imperfecta, Type Xvii
Kyphoscoliosis, Reduced bone mineral density, Platyspondyly, Vertebral compression fracture, Oste... OMIM:616507
Arthrogryposis, Perthes Disease, And Upward Gaze Palsy
Camptodactyly, Arthrogryposis multiplex congenita, Pulmonic stenosis, Pyloric stenosis, Atrial se... OMIM:614262
Noonan Syndrome-Like Disorder With Loose Anagen Hair 1
Loose anagen hair, Cubitus valgus, Aortic regurgitation, Inguinal hernia, Duplicated collecting s... OMIM:607721
Renal Hypodysplasia/Aplasia 3
Vesicoureteral reflux, Renal agenesis, Hydronephrosis, Renal dysplasia, Multicystic kidney dyspla... OMIM:617805
Ichthyosis Follicularis-Alopecia-Photophobia Syndrome
Cheilitis, Kyphosis, Delayed skeletal maturation, Severe short stature, Sparse hair, Abnormality ... ORPHA:2273
Autosomal Recessive Distal Osteolysis Syndrome
Abnormality of the dentition, Hypoplasia of the maxilla, Short stature, Short distal phalanx of f... ORPHA:2776
Intellectual Developmental Disorder, Autosomal Recessive 65
Thin vermilion border, Contracture of the proximal interphalangeal joint of the 4th finger, Hypos... OMIM:618109
Hermansky-Pudlak Syndrome 6
Absent platelet dense granules, Urinary incontinence, Recurrent urinary tract infections, Neuroge... OMIM:614075
Knobloch Syndrome 1
Occipital encephalocele, Alopecia of scalp, Spina bifida occulta, Duplicated collecting system, P... OMIM:267750
Pelvic Organ Prolapse, Susceptibility To
Rectal prolapse OMIM:176780
Dyskeratosis Congenita, X-Linked
Premature graying of hair, Nail dystrophy, Bone marrow hypocellularity, Leukopenia, Urethral sten... OMIM:305000
Vici Syndrome
Everted upper lip vermilion, Cardiomyopathy, T lymphocytopenia, Leukopenia, Dysphagia, Abnormal t... OMIM:242840
Carney Complex, Type 1
Congestive heart failure, Thyroid carcinoma, Red hair, Pheochromocytoma, Cardiac myxoma, Hirsutis... OMIM:160980
Oculodentodigital Dysplasia
Joint contracture of the 5th finger, Broad alveolar ridges, Microdontia, Sparse hair, Fine hair, ... OMIM:164200
Beare-Stevenson Cutis Gyrata Syndrome
Narrow palate, Limited elbow extension, Optic atrophy, Hypospadias, Hydrocephalus, Gingival overg... OMIM:123790
Short Stature, Developmental Delay, And Congenital Heart Defects
Patent foramen ovale, Proportionate short stature, Patent ductus arteriosus, Atrial septal defect... OMIM:617044
Gabriele-De Vries Syndrome
Intrauterine growth retardation, Craniosynostosis, Ventriculomegaly, Breast hypoplasia, Decreased... ORPHA:506358
Waardenburg Syndrome, Type 1
Premature graying of hair, Orofacial cleft, Mandibular prognathia, Myelomeningocele, Spina bifida... OMIM:193500
Multiple Endocrine Neoplasia, Type Iia
Aganglionic megacolon, Elevated urinary vanillylmandelic acid, Pheochromocytoma, Thyroid C cell h... OMIM:171400
Acrocephalopolydactylous Dysplasia
Enlarged kidney, Hepatomegaly, Cystic renal dysplasia, Extrapulmonary lobar sequestration, Hypopl... OMIM:200995
Joubert Syndrome 3
Nephronophthisis, Highly arched eyebrow, Enlarged fossa interpeduncularis, Open mouth, Lateral ve... OMIM:608629
Bone Marrow Failure Syndrome 3
Aplastic anemia, Nail dystrophy, Hyperechogenic pancreas, Reduced bone mineral density, Microdont... OMIM:617052
Rhizomelic Dysplasia, Ain-Naz Type
Rhizomelia, Limitation of joint mobility, Hypoplasia of the femoral head, Short humerus, Severe s... OMIM:619598
Pituicytoma
Central diabetes insipidus, Decreased response to growth hormone stimulation test, Pituitary hypo... ORPHA:251623
Humerofemoral Hypoplasia With Radiotibial Ray Deficiency
Congenital diaphragmatic hernia, Retrognathia, Short clavicles, Elbow flexion contracture, Absent... OMIM:618022
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency
Autoimmune hemolytic anemia, Pneumonia, Reduced red cell adenosine deaminase level, Hepatomegaly,... OMIM:102700
46,Xy Gonadal Dysgenesis-Motor And Sensory Neuropathy Syndrome
Male hypogonadism, Abnormal peripheral nerve morphology by anatomical site, Decreased serum testo... ORPHA:168563
Combined Immunodeficiency-Enteropathy Spectrum
Nail dystrophy, Intestinal malrotation, Sparse hair, Intrauterine growth retardation, Type I diab... ORPHA:436252
Neurodevelopmental Disorder With Hypotonia, Language Delay, And Skeletal Defects With Or Without Seizures
Postnatal growth retardation, Thin vermilion border, Anal stenosis, Prolonged QT interval, Gastro... OMIM:620029
Midface Hypoplasia, Hearing Impairment, Elliptocytosis, And Nephrocalcinosis
Dental crowding, Bifid uvula, Nephrocalcinosis, Joint hypermobility, Patent foramen ovale, Short ... OMIM:300990
Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 1
Kyphoscoliosis, Osteopenia, Gastrointestinal hemorrhage, Congestive heart failure, Platyspondyly,... OMIM:225400
Primary Sjögren Syndrome
Normochromic anemia, Bronchitis, Biliary cirrhosis, Leukopenia, Lymphopenia, Abnormality of the k... ORPHA:289390
Meier-Gorlin Syndrome 4
Lateral clavicle hook, Breast hypoplasia, Thick lower lip vermilion, Emphysema, Genu recurvatum, ... OMIM:613804
Mesomelic Dysplasia, Kantaputra Type
Tarsal synostosis, Cubitus valgus, Vertebral segmentation defect, Synostosis of carpal bones, Abn... ORPHA:1836
Duplication Of Urethra
Rectourethral fistula, Epispadias, Urinary incontinence, Hypospadias, Anorectal anomaly, Recurren... ORPHA:237
White-Kernohan Syndrome
Dysplastic corpus callosum, Retrognathia, Hydroureter, Horseshoe kidney, Rectovaginal fistula, Ga... OMIM:619426
Absent Radius-Anogenital Anomalies Syndrome
Hypoplasia of the radius, Rectovaginal fistula, Hydrocephalus, Perineal fistula, Anal atresia, Re... ORPHA:3016
Shprintzen Omphalocele Syndrome
Thin vermilion border, Narrow chest, Scoliosis, Kyphosis, Anal atresia, Omphalocele, Short statur... OMIM:182210
Meckel Syndrome, Type 6
Occipital encephalocele, Anencephaly, Hydrocephalus, Aplasia of the bladder, Renal cyst, Bile duc... OMIM:612284
Cleft Palate, Cardiac Defect, Genital Anomalies, And Ectrodactyly
Hypospadias, Cryptorchidism, Growth delay, Cleft upper lip, Coarctation of aorta, Cleft palate, T... OMIM:600460
Pmm2-Cdg
Kyphoscoliosis, Retrognathia, Pericarditis, Wide mouth, Multiple renal cysts, Long philtrum, Join... ORPHA:79318
Clapo Syndrome
Venous malformation, Narrow chest, Lymphedema, Pectus excavatum, Capillary malformation of the li... ORPHA:168984
Spondylometaphyseal Dysplasia, Pagnamenta Type
Short 4th metacarpal, Platyspondyly, Rhizomelia, Thoracic kyphosis, Delayed skeletal maturation, ... OMIM:619638
Chromosome 8Q22.1 Duplication Syndrome
Cubitus valgus, Cervical C2/C3 vertebral fusion, Gastroesophageal reflux, Short metatarsal, Genu ... OMIM:151200
Sacral Agenesis With Vertebral Anomalies
Abnormal vertebral morphology, Unilateral renal agenesis, Anal atresia, Vertebral clefting, Persi... OMIM:615709
Thyroid Ectopia
Elevated circulating thyroid-stimulating hormone concentration, Jaundice, Hypothyroidism, Short s... ORPHA:95712
Relapsing Polychondritis
Myocarditis, Abnormal endocardium morphology, Large vessel vasculitis, Abnormal aortic valve morp... ORPHA:728
Distal Deletion 19P
Pulmonary valve atresia, Tricuspid valve prolapse, Short philtrum, Vaginal hernia, Hypoplasia of ... ORPHA:96129
Spondylospinal Thoracic Dysostosis
Multiple pterygia, Short thorax, Hypoplasia of the maxilla, Micrognathia, Pulmonary hypoplasia, A... OMIM:601809
Fibular Hemimelia
Abnormal bone ossification, Proximal femoral focal deficiency, Increased laxity of ankles, Joint ... ORPHA:93323
Atrial Septal Defect 7 With Or Without Atrioventricular Conduction Defects
Prolonged PR interval, Atrial fibrillation, Pulmonary artery atresia, Secundum atrial septal defe... OMIM:108900
Bdv Syndrome
Delayed puberty, Decreased thyroid-stimulating hormone level, Hyperinsulinemia, Reduced TSH respo... OMIM:619326
Ataxia-Telangiectasia-Like Disorder 2
Congenital diaphragmatic hernia, Cutaneous telangiectasia, Conjunctival telangiectasia, Short sta... OMIM:615919
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Atrial septal defect, Pneumonia, Jaundice, Prolonged QT interval, Hepatomegaly, Patent foramen ov... ORPHA:26793
Autosomal Recessive Spastic Paraplegia Type 23
Kyphoscoliosis, Silver-gray hair, Short stature, Horseshoe kidney, Hip dislocation ORPHA:101003
Osteopetrosis With Renal Tubular Acidosis
Retrognathia, Pectus excavatum, Bone marrow hypocellularity, Enlarged tonsils, Leukopenia, Oligoh... ORPHA:2785
Fibrochondrogenesis
Bell-shaped thorax, Narrow chest, Abnormal form of the vertebral bodies, Wide anterior fontanel, ... ORPHA:2021
46,Xx Difference Of Sex Development-Anorectal Anomalies Syndrome
Renal hypoplasia/aplasia, Hydroureter, Urogenital sinus anomaly, Tracheoesophageal fistula, Anal ... ORPHA:2973
Spondyloepimetaphyseal Dysplasia, Aggrecan Type
Short finger, Platyspondyly, Barrel-shaped chest, Rhizomelia, Mandibular prognathia, Mesomelia, M... OMIM:612813
Anophthalmia Plus Syndrome
Non-midline cleft of the upper lip, Bilateral cleft palate, Vertebral segmentation defect, Spina ... ORPHA:1104
Nager Syndrome
Abnormal palate morphology, Hypoplasia of the radius, Unilateral renal agenesis, Aplasia/Hypoplas... ORPHA:245
Curry-Jones Syndrome
High anterior hairline, Anal stenosis, Intestinal pseudo-obstruction, Unicoronal synostosis, Bico... OMIM:601707
Rhizomelic Skeletal Dysplasia With Or Without Pelger-Huet Anomaly
Disproportionate short-limb short stature, Hyperlordosis, Kyphosis, Thoracic hypoplasia, Joint hy... OMIM:618019
3Mc Syndrome 3
Sacral dimple, Penoscrotal hypospadias, Highly arched eyebrow, Diastasis recti, Short stature, Cl... OMIM:248340
Primrose Syndrome
Delayed puberty, Reduced bone mineral density, Pectus excavatum, Kyphosis, Generalized osteoporos... OMIM:259050
Neu-Laxova Syndrome 2
Polyhydramnios, Scoliosis, High palate, Spina bifida, Micrognathia, Cleft palate, Intrauterine gr... OMIM:616038
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly
Short ribs, Polycystic liver disease, Pancreatic fibrosis, Hypoplasia of the ulna, Pulmonary insu... OMIM:208500
Intellectual Disability-Obesity-Prognathism-Eye And Skin Anomalies Syndrome
Hypoplasia of the maxilla, Mandibular prognathia, Crowded maxillary incisors ORPHA:397973
Hydranencephaly
Postnatal growth retardation, Stiff neck, Ventriculomegaly, Optic nerve hypoplasia, Abnormal inte... ORPHA:2177
Blue Rubber Bleb Nevus
Rectal prolapse, Iron deficiency anemia, Volvulus, Thrombocytopenia, Abnormality of the liver, In... OMIM:112200
Mandibuloacral Dysplasia Progeroid Syndrome
Nail dystrophy, Pectus excavatum, Joint stiffness, Elevated hemoglobin A1c, Sparse hair, Left ven... OMIM:619127
Acromelic Frontonasal Dysplasia
Patellar hypoplasia, Encephalocele, Meningocele, Anterior pituitary hypoplasia, Median cleft pala... ORPHA:1827
Bruck Syndrome
Platyspondyly, Pterygium, Scoliosis, Kyphosis, Osteoporosis, Joint stiffness, Short stature, Worm... ORPHA:2771
Short-Rib Thoracic Dysplasia 8 With Or Without Polydactyly
Lateral clavicle hook, Polyhydramnios, Narrow chest, Short ribs, Pancreatic fibrosis, Acetabular ... OMIM:615503
Brachymorphism-Onychodysplasia-Dysphalangism Syndrome
High anterior hairline, Inguinal hernia, Short distal phalanx of toe, Short stature, Abnormal mit... ORPHA:1292
Craniotubular Dysplasia, Ikegawa Type
Optic atrophy, Thick lower lip vermilion, Platyspondyly, Optic nerve compression, Increased inter... OMIM:619727
Linear Skin Defects With Multiple Congenital Anomalies 3
Histiocytoid cardiomyopathy, Thyroid C cell hyperplasia, Cardiac arrest, Ventricular fibrillation... OMIM:300952
Pseudohypoparathyroidism Type 1B
Decreased response to growth hormone stimulation test, Elevated circulating parathyroid hormone l... ORPHA:94089
Keipert Syndrome
Short hallux, Exaggerated cupid's bow, Hypoplasia of the maxilla, Aplasia/Hypoplasia of the dista... ORPHA:2662
Axenfeld-Rieger Syndrome
Anal stenosis, Hypospadias, Everted lower lip vermilion, Microdontia, Abnormality of the hypothal... ORPHA:782
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Severe Form
Delayed puberty, Nail dystrophy, Anal fissure, IgA deposition in the glomerulus, Dysphagia, Osteo... ORPHA:79408
Distal Deletion 6P
Orofacial cleft, Short philtrum, Scoliosis, Vertebral segmentation defect, Abnormality of the den... ORPHA:96125
Spondyloepimetaphyseal Dysplasia, Faden-Alkuraya Type
Osteopenia, Limited elbow extension, Carpal bone hypoplasia, Scoliosis, Short metacarpal, Short f... OMIM:616723
Frontonasal Dysplasia-Bifid Nose-Upper Limb Anomalies Syndrome
Downturned corners of mouth, Agenesis of corpus callosum, Intrauterine growth retardation, Fronta... ORPHA:521308
Bardet-Biedl Syndrome 21
Hypodontia, Horseshoe kidney, Abnormality of the dentition OMIM:617406
Antley-Bixler Syndrome Without Genital Anomalies Or Disordered Steroidogenesis
Lambdoidal craniosynostosis, Narrow chest, Hydrocephalus, Abnormal renal morphology, Wide anterio... OMIM:207410
Meige Disease
Facial edema, Edema of the dorsum of hands, Pedal edema, Predominantly lower limb lymphedema, Lym... ORPHA:90186
Osteogenesis Imperfecta, Type Xxi
Platyspondyly, Barrel-shaped chest, Bell-shaped thorax, Disproportionate short-limb short stature... OMIM:619131
Hemifacial Hyperplasia
Hypoplasia of the maxilla, Dental malocclusion OMIM:133900
Rhabdoid Tumor
Renal neoplasm, Anemia, Lymphadenopathy, Hematuria, Hypertension, Internal hemorrhage, Thrombocyt... ORPHA:69077
Combined Osteogenesis Imperfecta And Ehlers-Danlos Syndrome 1
Reduced bone mineral density, Inguinal hernia, Recurrent joint dislocation, Scoliosis, Short stat... OMIM:619115
Non-Functioning Pituitary Adenoma
Anemia of inadequate production, Female hypogonadism, Hypogonadism, Central adrenal insufficiency... ORPHA:91349
Blepharophimosis-Intellectual Disability Syndrome, Ohdo Type
Postnatal growth retardation, Widely spaced teeth, Multiple bladder diverticula, Microdontia, Hyp... ORPHA:2728
Torticollis, Keloids, Cryptorchidism, And Renal Dysplasia
Unilateral renal atrophy, Torticollis, Pyelonephritis, Nephritis, Renal dysplasia, Varicose veins... OMIM:314300
Osteogenesis Imperfecta, Type Viii
Osteopenia, Platyspondyly, Barrel-shaped chest, Vertebral compression fracture, Inguinal hernia, ... OMIM:610915
Hnf1B-Related Autosomal Dominant Tubulointerstitial Kidney Disease
Acute kidney injury, Glomerulopathy, Abnormality of endocrine pancreas physiology, Aplasia/Hypopl... ORPHA:93111
Whim Syndrome
Severe periodontitis, Atelectasis, Parotitis, Lymphopenia, Lymphadenitis, Abnormal neutrophil mor... ORPHA:51636
Spina Bifida-Hypospadias Syndrome
Spinal dysraphism, Hypospadias, Spina bifida ORPHA:3176
Choreoathetosis And Congenital Hypothyroidism With Or Without Pulmonary Dysfunction
Elevated circulating thyroid-stimulating hormone concentration, Decreased response to growth horm... OMIM:610978
Meckel Syndrome, Type 2
Anencephaly, Encephalocele, Meningocele, Dandy-Walker malformation, Renal cyst, Bile duct prolife... OMIM:603194
Meier-Gorlin Syndrome 5
Gastroesophageal reflux, Elbow dislocation, Prominent metopic ridge, Hypoplasia of the maxilla, D... OMIM:613805
Transposition Of The Great Arteries, Dextro-Looped
Transposition of the great arteries OMIM:608808
Celiac Artery Stenosis From Compression By Median Arcuate Ligament Of Diaphragm
Celiac artery compression OMIM:116870
Recon Progeroid Syndrome
Thin vermilion border, Anemia, Dental crowding, Hirsutism, Short stature, Growth delay, Thrombocy... OMIM:620370
Hydrocephalus, Congenital, 2, With Or Without Brain Or Eye Anomalies
Optic atrophy, Hydrocephalus, Right atrial enlargement, Communicating hydrocephalus, Colpocephaly... OMIM:615219
Telangiectasia, Hereditary Hemorrhagic, Type 2
Tongue telangiectasia, Hematemesis, Nail bed telangiectasia, Spontaneous, recurrent epistaxis, Na... OMIM:600376
Lymphatic Malformation 7
Pulmonary edema, Facial edema, Anemia, Chylothorax, Lymphedema, Pleural effusion, Ascites, Increa... OMIM:617300
Hamel Cerebro-Palato-Cardiac Syndrome
Narrow mouth, Short stature, Micrognathia, Cleft palate, Malar flattening, Atrial septal defect ORPHA:93946
Igg4-Related Pachymeningitis
Pancreatitis, Abnormality of cervical plexus, Parotitis, Lymphadenitis, Sinusitis, Abnormal lung ... ORPHA:449427
Holoprosencephaly 1
Cyclopia, Diabetes insipidus, Alobar holoprosencephaly, Adrenal hypoplasia, Median cleft palate, ... OMIM:236100
Hellp Syndrome
Prolonged prothrombin time, Pulmonary edema, Acute kidney injury, Decreased mean corpuscular hemo... ORPHA:244242
15q26 overgrowth syndrome
Abnormality of the kidney, High anterior hairline, Joint hypermobility, Duplication of renal pelv... DECIPHER:81
Pierre Robin Sequence With Pectus Excavatum And Rib And Scapular Anomalies
Pectus excavatum, Abnormal rib morphology, Hypoplastic distal segments of scapulae, Micrognathia,... OMIM:602196
Rhizomelic Dysplasia, Patterson-Lowry Type
Rhizomelia, Short metatarsal, Short metacarpal, Short humerus, Platyspondyly OMIM:601438
Familial Idiopathic Dilatation Of The Right Atrium
Cardiomegaly, Abnormal cardiac ventricular function, Abnormality of the hepatic vasculature, Mids... ORPHA:1677
Hyperinsulinemic Hypoglycemia, Familial, 8
Elevated circulating thyroid-stimulating hormone concentration, Hyperinsulinemia, Hypothyroidism,... OMIM:620211
Marshall Syndrome
Thick lower lip vermilion, Genu valgum, High palate, Abnormality of the dentition, Hypoplastic fr... ORPHA:560
Cystic Fibrosis
Osteopenia, Pneumothorax, Steatorrhea, Rectal prolapse, Cirrhosis, Recurrent lower respiratory tr... ORPHA:586
Gangliocytoma
Adrenocorticotropic hormone excess, Scoliosis, Abnormal pituitary gland morphology, Abnormal prol... ORPHA:251937
Oculodentodigital Dysplasia, Autosomal Recessive
Thin vermilion border, Hypoplasia of the primary teeth, Delayed eruption of teeth, Dental crowdin... OMIM:257850
Hepatic Fibrosis-Renal Cysts-Intellectual Disability Syndrome
Meningocele, Glossoptosis, Renal cyst, Short stature, Congenital hepatic fibrosis, Chorioretinal ... ORPHA:2031
Marburg Hemorrhagic Fever
Prolonged prothrombin time, Bradycardia, Reticulocytosis, Pericarditis, Leukopenia, Lymphopenia, ... ORPHA:99826
Gaucher Disease, Type Iiic
Calcification of the aorta, Hepatomegaly, Pancytopenia, Hydrocephalus, Mitral valve calcification... OMIM:231005
Spondyloepimetaphyseal Dysplasia, Missouri Type
Limited elbow extension, Rhizomelia, Pear-shaped vertebrae, Irregular sclerotic endplates, Flared... OMIM:602111
Neutropenia, Severe Congenital, 10, Autosomal Recessive
Anorectal abscess, Anemia, Thrombocytopenia, Monocytosis, Neutropenia OMIM:620534
Fraser Syndrome 1
Renal hypoplasia/aplasia, Dental crowding, Myelomeningocele, Abnormal heart morphology, Aplasia/H... OMIM:219000
Immunodeficiency 40
Rectal fistula, Hepatomegaly, Macrovesicular hepatic steatosis, Focal active colitis, T lymphocyt... OMIM:616433
Panhypophysitis
Abnormal thalamic MRI signal intensity, Central diabetes insipidus, Orthostatic hypotension, Redu... ORPHA:95513
Pfeiffer Syndrome
Shortening of all middle phalanges of the fingers, Dental crowding, Mandibular prognathia, Short ... OMIM:101600
Marshall Syndrome
Thick lower lip vermilion, Platyspondyly, Absent frontal sinuses, Knee osteoarthritis, Short stat... OMIM:154780
Pancreatic insufficiency, combined exocrine
Congestive heart failure, Anasarca, Exocrine pancreatic insufficiency, Anal atresia OMIM:260450
Microcephaly-Intellectual Disability-Sensorineural Hearing Loss-Epilepsy-Abnormal Muscle Tone Syndrome
Retrognathia, Broad eyebrow, Limb hypertonia, Highly arched eyebrow, Scoliosis, Sacral hypertrich... ORPHA:457351
Congenital Factor X Deficiency
Prolonged prothrombin time, Spontaneous hematomas, Gastrointestinal hemorrhage, Hematuria, Post-p... ORPHA:328
Odontochondrodysplasia 2 With Hearing Loss And Diabetes
Osteopenia, Retrognathia, Periodontitis, Premature loss of teeth, Scoliosis, Proportionate short ... OMIM:619269
Axenfeld-Rieger Syndrome, Type 1
Decreased response to growth hormone stimulation test, Anal stenosis, Aniridia, Short philtrum, H... OMIM:180500
Sacral Defect With Anterior Meningocele
Myeloschisis, Hydromyelia, Anterior sacral meningocele, Meningocele, Hydrocephalus, Rectal absces... OMIM:600145
Lethal Short-Limb Skeletal Dysplasia, Al Gazali Type
Platyspondyly, Wide anterior fontanel, Mesomelia, Limb undergrowth, Wormian bones, Shortening of ... OMIM:601356
Erythrocytosis, Familial, 2
Increased red blood cell mass, Stroke, Hypotension, Pulmonary arterial hypertension, Increased ci... OMIM:263400
Eiken Syndrome
Abnormal bone ossification, Fibular hypoplasia, Cubitus valgus, Delayed epiphyseal ossification, ... ORPHA:79106
Anorectal Anomalies
Rectovaginal fistula, Anal atresia OMIM:107100
Antley-Bixler Syndrome
Narrow chest, Abnormal renal morphology, Delayed cranial suture closure, Narrow mouth, Abnormal r... ORPHA:83
Hyperthyroidism, Nonautoimmune
Increased circulating T4 concentration, Increased circulating free T3, Decreased thyroid-stimulat... OMIM:609152
Hypophosphatasia
Emphysema, Anemia, Narrow chest, Abnormality of the dentition, Abnormal rib morphology, Short sta... ORPHA:436
Spondylometaphyseal Dysplasia, Sedaghatian Type
Myocarditis, Disproportionate short stature, Narrow chest, Short metacarpal, Abnormal rib morphol... ORPHA:93317
Brachyolmia Type 3
Barrel-shaped chest, Childhood-onset short-trunk short stature, Scoliosis, Kyphosis, Short femora... OMIM:113500
Ulbright-Hodes Syndrome
Short ribs, Severe intrauterine growth retardation, Short metacarpal, Mesomelia, Short humerus, O... ORPHA:3404
Calvarial Doughnut Lesions With Bone Fragility
Osteopenia, Scoliosis, Osteoporosis, Carious teeth, Severe short stature, Platyspondyly, Recurren... OMIM:126550
Liposarcoma
Abnormality of the kidney, Varicose veins ORPHA:69078
Jackson-Weiss Syndrome
Hypoplasia of the maxilla, Abnormal palate morphology, Mandibular prognathia, Short metatarsal ORPHA:1540
Pituitary Deficiency Due To Rathke Cleft Cysts
Enlarged pituitary gland, Abnormality of the sphenoid sinus, Optic nerve compression, Anterior hy... ORPHA:91350
Isotretinoin Embryopathy-Like Syndrome
Hydrocephalus, Micrognathia, Conotruncal defect, Cleft palate OMIM:243440
Adenohypophysitis
Abnormal thalamic MRI signal intensity, Orthostatic hypotension, Reduced circulating prolactin co... ORPHA:95512
Melanocytic Nevus Syndrome, Congenital
Everted lower lip vermilion, Open mouth, Long philtrum, Prominence of the premaxilla, Deep philtrum OMIM:137550
Acropectorovertebral Dysplasia
High, narrow palate, Tarsal synostosis, Pectus excavatum, Synostosis of carpal bones, Spina bifid... ORPHA:957
Waardenburg Syndrome Type 3
Atelectasis, Tracheomalacia, White hair, Synostosis of carpal bones, Joint stiffness, Camptodacty... ORPHA:896
Criss-Cross Heart
Transposition of the great arteries, Tricuspid stenosis, Pulmonic stenosis, Abnormal mitral valve... ORPHA:1461
Kyphomelic Dysplasia
Lateral clavicle hook, Disproportionate short stature, Pterygium, Undulate ribs, Flat acetabular ... OMIM:211350
Omphalocele Syndrome, Shprintzen-Goldberg Type
Gastroesophageal reflux, Scoliosis, Abnormal eyelash morphology, Anal atresia, Omphalocele, Spars... ORPHA:3164
Developmental And Epileptic Encephalopathy 102
Situs inversus totalis, Atrial septal defect, Hepatomegaly, Gastroesophageal reflux OMIM:619881
Hereditary Acrokeratotic Poikiloderma
Nail dystrophy, Joint hypermobility, Abnormality of the urethra, Dystrophic toenail, Abnormality ... ORPHA:2907
Ophthalmoplegia, External, And Myopia
Spina bifida OMIM:311000
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome
Rhizomelia, Scoliosis, Coloboma, Cupped ribs, Short metacarpal, Ovoid vertebral bodies, Severe sh... ORPHA:85167
Acquired Purpura Fulminans
Prolonged prothrombin time, Macular purpura, Internal hemorrhage, Thrombocytopenia, Intracranial ... ORPHA:49566
Hereditary Orotic Aciduria
Oroticaciduria, Anemia, Abnormality of the ureter, Orotic acid crystalluria, Splenomegaly, Patent... ORPHA:30
X-Linked Intellectual Disability, Porteous Type
Frontal balding, Short philtrum, Mandibular prognathia, Hypoplasia of the maxilla, Short stature ORPHA:93945
Antley-Bixler Syndrome With Genital Anomalies And Disordered Steroidogenesis
Decreased circulating androstenedione concentration, Decreased circulating dehydroepiandrosterone... OMIM:201750
Sheehan Syndrome
Normochromic anemia, Bradycardia, Decreased circulating cortisol level, Sparse axillary hair, Cen... ORPHA:91355
Lowe Oculocerebrorenal Syndrome
Wrist swelling, Kyphosis, Renal Fanconi syndrome, Pathologic fracture, Joint hypermobility, Stage... OMIM:309000
Congenital Labioscrotal Agenesis-Cerebellar Malformation-Corneal Dystrophy-Facial Dysmorphism Syndrome
Tented philtrum, Hypospadias, Gastroesophageal reflux, Broad eyebrow, Optic nerve hypoplasia, Dan... ORPHA:495875
Spondylometaphyseal Dysplasia, Sedaghatian Type
Myocarditis, Short finger, Disproportionate short stature, Rhizomelia, 11 pairs of ribs, Narrow c... OMIM:250220
Nasopalpebral Lipoma-Coloboma Syndrome
Coloboma, Hypoplasia of the maxilla, Sparse eyebrow, Lipomas of eyelids, Widow's peak OMIM:167730
Duodenal Atresia
Annular pancreas, Polyhydramnios, Abnormality of the pulmonary artery, Abnormality of the pancrea... ORPHA:1203
Familial Osteodysplasia, Anderson Type
Aplasia/hypoplasia of the femur, Abnormal zygomatic bone morphology, Tooth malposition, Abnormal ... ORPHA:2769
Stapes Ankylosis With Broad Thumbs And Toes
Short distal phalanx of finger, Proximal/middle symphalangism of 5th finger, Fused cervical verte... OMIM:184460
Lacrimoauriculodentodigital Syndrome 1
Hypoplasia of the ulna, Hypoplasia of the radius, Absence of Stensen duct, Lacrimal gland aplasia... OMIM:149730
Frontal Encephalocele
Hydrocephalus, Encephalocele, Spina bifida ORPHA:1931
Microtia
Holoprosencephaly ORPHA:83463
Li-Fraumeni Syndrome
Thyroid carcinoma, Neoplasm of the pancreas, Ovarian neoplasm, Rhabdomyosarcoma, Neoplasm of the ... ORPHA:524
Chromosome 17Q12 Duplication Syndrome
Esophageal atresia, Cleft soft palate, Facial hypotonia, Micrognathia, Smooth philtrum, Atrial se... OMIM:614526
Autosomal Dominant Popliteal Pterygium Syndrome
Popliteal pterygium, Non-midline cleft of the upper lip, Scoliosis, Abnormal rib morphology, Join... ORPHA:1300
Norrie Disease
Optic atrophy, Thin vermilion border, Delayed puberty, Venous insufficiency, Scoliosis, Remnants ... ORPHA:649
Microtia-Anotia
Holoprosencephaly OMIM:600674
Mandibulofacial Dysostosis, Guion-Almeida Type
Esophageal atresia, Short stature, Micrognathia, Cleft palate, Malar flattening, Atrial septal de... OMIM:610536
Familial Hyperthyroidism Due To Mutations In Tsh Receptor
Thyrotoxicosis with diffuse goiter, Accelerated skeletal maturation, Hyperthyroidism, Goiter, Act... ORPHA:424
Toriello-Lacassie-Droste Syndrome
Epispadias, Aganglionic megacolon, Polyhydramnios, Hypospadias, Abnormality of the bladder, Abnor... ORPHA:3339
Cleft Lip/Palate
Orofacial cleft, Abnormal number of permanent teeth, Oral-pharyngeal dysphagia, Peg-shaped maxill... ORPHA:199306
Craniopharyngioma
Delayed puberty, Cerebral ischemia, Hypogonadism, Central adrenal insufficiency, Optic atrophy, H... ORPHA:54595
Primary Hypergonadotropic Hypogonadism-Partial Alopecia Syndrome
Delayed puberty, Absence of secondary sex characteristics, Small pituitary gland, Kyphosis, Abnor... ORPHA:2232
Formiminoglutamic Aciduria
Abnormal concentration of acylcarnitine in the urine, Atrial septal defect, Megaloblastic anemia,... ORPHA:51208
Osteoporosis-Pseudoglioma Syndrome
Kyphoscoliosis, Osteopenia, Platyspondyly, Barrel-shaped chest, Pathologic fracture, Vertebral co... OMIM:259770
Ulna And Fibula, Absence Of, With Severe Limb Deficiency
Aplasia/hypoplasia of the femur, Carpal bone aplasia, Pectus carinatum, Broad clavicles, Aplasia/... OMIM:276820
Hypohidrotic Ectodermal Dysplasia
Trichorrhexis nodosa, Breast aplasia, Slow-growing hair, Abnormal hair quantity, Abnormality of t... ORPHA:238468
Pseudohypoparathyroidism Type 1C
Prolonged QT interval, Short metacarpal, Short 4th metacarpal, Decreased response to growth hormo... ORPHA:79444
Polysyndactyly With Cardiac Malformation
Stillbirth, Polyhydramnios, Renal cyst, Hepatic cysts, Atrial septal defect, Ventricular septal d... OMIM:263630
Renal And Mullerian Duct Hypoplasia
Severe postnatal growth retardation, Anteriorly displaced urethral meatus, Renal hypoplasia, Micr... OMIM:266810
Humero-Radial Synostosis
Tarsal synostosis, Abnormality of the wrist, Meningocele, Aplasia/Hypoplasia of the thumb, Limita... ORPHA:3265
Short Stature, Onychodysplasia, Facial Dysmorphism, And Hypotrichosis
Osteopenia, Breast hypoplasia, Hypoplastic sacrum, Rhizomelia, Short metatarsal, Mandibular progn... OMIM:614813
Aspartylglucosaminuria
Spondylolysis, Spondylolisthesis, Kyphosis, Hypoplastic frontal sinuses, Delayed skeletal maturat... OMIM:208400
Glycogen Storage Disease Ib
Delayed puberty, Enlarged kidney, Hepatomegaly, Pancreatitis, Decreased glomerular filtration rat... OMIM:232220
Shwachman-Diamond Syndrome 2
Prolonged prothrombin time, Steatorrhea, Hyperechogenic pancreas, Normocytic anemia, Hepatomegaly... OMIM:617941
Juvenile Polyposis Syndrome
Neoplasm of the stomach, Rectal prolapse, Anemia, Colon cancer, Hematochezia, Intussusception, Du... OMIM:174900
Familial Gestational Hyperthyroidism
Thyrotoxicosis with diffuse goiter, Hyperthyroidism, Goiter, Activating thyroid-stimulating hormo... ORPHA:99819
Short-Rib Thoracic Dysplasia 21 Without Polydactyly
Widely spaced teeth, Hypospadias, Small pituitary gland, Narrow chest, Disproportionate short-lim... OMIM:619479
Neurodevelopmental Disorder With Or Without Autism Or Seizures
Pulmonic stenosis, Submucous cleft hard palate, Bifid uvula, Absent thumb, Atrial septal defect OMIM:619239
Faciocardiorenal Syndrome
Tricuspid valve prolapse, Narrow mouth, Cleft palate, Smooth philtrum, Hypodontia, Horseshoe kidn... ORPHA:1973
Chiari Malformation Type Ii
Cervical myelopathy, Hydrocephalus, Myelomeningocele, Spina bifida, Limb muscle weakness, Dysphag... OMIM:207950
Pseudohypoparathyroidism Type 1A
Reduced bone mineral density, Prolonged QT interval, Hypertension, Short metacarpal, Short 4th me... ORPHA:79443
Aceruloplasminemia
Congestive heart failure, Abnormal thalamic MRI signal intensity, Hypochromic microcytic anemia, ... ORPHA:48818
Xerosis And Growth Failure With Immune And Pulmonary Dysfunction Syndrome
Postnatal growth retardation, Retrognathia, Reduced bone mineral density, Left-to-right shunt, Ec... OMIM:620510
Infantile Hypotonia-Oculomotor Anomalies-Hyperkinetic Movements-Developmental Delay Syndrome
Gastroesophageal reflux, Scoliosis, Horizontal eyebrow, Abnormal location of the eyebrow, Smooth ... ORPHA:522077
Lowry-Wood Syndrome
Abnormality of nail color, Dislocated radial head, Joint stiffness, Delayed skeletal maturation, ... ORPHA:1824
Proteasome-Associated Autoinflammatory Syndrome 1
Premature graying of hair, Flexion contracture of toe, Recurrent sinusitis, Flexion contracture o... OMIM:256040
Cleft Velum
Oral-pharyngeal dysphagia, Cleft soft palate, Aspiration pneumonia, Hypoplasia of the maxilla, Ve... ORPHA:99772
Mitchell-Riley Syndrome
Annular pancreas, Biliary atresia, Meckel diverticulum, Acholic stools, Pancreatic hypoplasia, Ch... OMIM:615710
Familial Multinodular Goiter
Thyroid carcinoma, Ovarian neoplasm, Pleuropulmonary blastoma, Colorectal polyposis, Testicular s... ORPHA:276399
Pseudohermaphroditism, Female, With Skeletal Anomalies
Hypoplasia of the maxilla, Ulnar radial head dislocation, Short mandibular condyles OMIM:264270
Prolactinoma
Osteopenia, Delayed puberty, Anterior hypopituitarism, Decreased circulating ACTH concentration, ... ORPHA:2965
Intellectual Disability-Dysmorphism-Hypogonadism-Diabetes Mellitus Syndrome
Breast aplasia, Mandibular prognathia, Hypoplasia of the maxilla, Decreased testicular size, Elev... ORPHA:3044
Lymphatic Malformation 13
Patent foramen ovale, Lymphedema, Ascites, Pulmonary arterial hypertension, Neonatal death, Nonim... OMIM:620244
Nasopalpebral Lipoma-Coloboma Syndrome
Severe postnatal growth retardation, Coloboma, Abnormal eyelash morphology, Hypoplasia of the max... ORPHA:2399
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 1
Delayed puberty, Postnatal growth retardation, Steatorrhea, Hepatomegaly, Skeletal muscle fibrosi... OMIM:616263
Ablepharon Macrostomia Syndrome
Breast hypoplasia, Thin vermilion border, Hypoplasia of penis, Absent eyelashes, Microdontia, Omp... ORPHA:920
Ptosis-Upper Ocular Movement Limitation-Absence Of Lacrimal Punctum Syndrome
Highly arched eyebrow, Absent eyelashes, Tricuspid regurgitation, Hypoplasia of the maxilla, Thic... ORPHA:228396
Barber-Say Syndrome
Thin vermilion border, Widely spaced teeth, Delayed eruption of teeth, Mandibular prognathia, Hyp... OMIM:209885
Martinez-Frias Syndrome
Annular pancreas, Hypoplasia of the gallbladder, Hypospadias, Pancreatic hypoplasia, Intestinal h... OMIM:601346
Thin Ribs-Tubular Bones-Dysmorphism Syndrome
Intrauterine growth retardation, Abnormal palate morphology, Abnormal rib morphology ORPHA:1506
Ebstein Malformation Of The Tricuspid Valve
Abnormal endocardium morphology, Congestive heart failure, Atrial fibrillation, Right bundle bran... ORPHA:1880
Holoprosencephaly 4
Semilobar holoprosencephaly, Median cleft upper lip, Median cleft palate OMIM:142946
Kindler Epidermolysis Bullosa
Cheilitis, Dysphagia, Abnormality of the anus, Short 4th metacarpal, Phimosis, Carious teeth, Inf... ORPHA:2908
Camptodactyly Syndrome, Guadalajara Type 3
Osteopenia, Retrognathia, Distal shortening of limbs, Spina bifida occulta, Abnormal rib morpholo... ORPHA:488434
Cleidocranial Dysplasia 2
Osteopenia, Supernumerary tooth, Genu valgum, Delayed pubic bone ossification, Short clavicles, D... OMIM:620099
Congenital Disorder Of Glycosylation, Type Iim
Short philtrum, Gastroesophageal reflux, Vesicovaginal fistula, Mandibular prognathia, Exaggerate... OMIM:300896
Bladder Exstrophy
Epispadias, Bladder exstrophy, Inguinal hernia, Hypoplasia of penis, Recurrent urinary tract infe... ORPHA:93930
Subependymal Nodular Heterotopia
Abnormal ethmoid bone morphology, Occipital encephalocele, Nasofrontal encephalocele, Meningocele... ORPHA:101030
Bnar Syndrome
Renal agenesis, Short lingual frenulum, Anal stenosis, Anteriorly placed anus ORPHA:217266
Cardiomyopathy, Familial Hypertrophic, 11
Congestive heart failure, Atrial flutter, Left anterior fascicular block, Left bundle branch bloc... OMIM:612098
Mosaic Variegated Aneuploidy Syndrome 7 With Inflammation And Tumor Predisposition
Lipoma, Adenocarcinoma of the colon, Micrognathia, Multinodular goiter, Embryonal rhabdomyosarcoma OMIM:620189
Bifid Nose With Or Without Anorectal And Renal Anomalies
Unilateral renal agenesis, Short philtrum, Rectovaginal fistula, Short lingual frenulum, Ebstein ... OMIM:608980
Spondylometaphyseal Dysplasia, Algerian Type
Kyphoscoliosis, Carpal bone hypoplasia, Genu valgum, Anterior rib cupping, Hypoplasia of proximal... OMIM:184253
Pearson Marrow-Pancreas Syndrome
Steatorrhea, Complex organic aciduria, Type I diabetes mellitus, Pancreatic fibrosis, Neutropenia... OMIM:557000
Czech Dysplasia
Intervertebral space narrowing, Short metatarsal, Scoliosis, Thoracic kyphosis, Limitation of joi... OMIM:609162
Sillence Syndrome
Short finger, Abnormal vertebral morphology, Intervertebral disk degeneration, Scoliosis, Flat ac... ORPHA:3168
Cowden Syndrome 7
Ductal carcinoma in situ, Intestinal polyposis, Papillary thyroid carcinoma, Hashimoto thyroiditi... OMIM:616858
Msh3-Related Attenuated Familial Adenomatous Polyposis
Neoplasm of the rectum, Colorectal polyposis, Stomach cancer, Ovarian dermoid cyst, Renal cyst, C... ORPHA:480536
Familial Cerebral Cavernous Malformation
Neuroma, Scoliosis, Cerebral hemorrhage, Venous malformation ORPHA:221061
Adenocarcinoma Of The Anal Canal
Rectal prolapse, Anal stenosis, Lymphadenopathy, Neoplasm of the rectum, Neoplasm of the lung, An... ORPHA:424016
Ectodermal Dysplasia 1, Hypohidrotic, X-Linked
Everted upper lip vermilion, Absent eyebrow, Conical tooth, Brittle hair, Absent eyelashes, Hypop... OMIM:305100
X-Linked Acrogigantism
Delayed puberty, Enlarged pituitary gland, Decreased thyroid-stimulating hormone level, Increased... ORPHA:300373
Spondyloepimetaphyseal Dysplasia, Genevieve Type
Carpal bone hypoplasia, Thick lower lip vermilion, Platyspondyly, Ventriculomegaly, Hirsutism, Fl... OMIM:610442
Axenfeld-Rieger Syndrome, Type 3
Microdontia, Malar flattening, Patent ductus arteriosus, Hypodontia, Atrial septal defect OMIM:602482
Microcephaly-Lymphedema-Chorioretinopathy Syndrome
Optic atrophy, Leukonychia, Panniculitis, Abnormal hair morphology, Chylothorax, Abnormal eyelash... ORPHA:2526
Yellow Fever
Hematemesis, Prolonged prothrombin time, Abnormal bleeding, Jaundice, Acute kidney injury, Reduce... ORPHA:99829
Cancer, Alopecia, Pigment Dyscrasia, Onychodystrophy, And Keratoderma
Alopecia of scalp, Nail dystrophy, Premature loss of teeth, Conjunctival telangiectasia, Multinod... OMIM:618373
Capillary Malformation Of The Lower Lip, Lymphatic Malformation Of Face And Neck, Asymmetry Of Face And Limbs, And Partial/Generalized Overgrowth
Varicose veins, Lymphedema, Venous malformation, Capillary malformation of the lip OMIM:613089
Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome
Decreased response to growth hormone stimulation test, Nail dystrophy, Recurrent pharyngitis, Dec... ORPHA:293978
Spondyloepimetaphyseal Dysplasia, X-Linked
Limited elbow extension, Platyspondyly, Pectus carinatum, Delayed ossification of carpal bones, S... OMIM:300106
Bladder Exstrophy And Epispadias Complex
Epispadias, Hydroureter, Unilateral renal agenesis, Inguinal hernia, Bladder exstrophy, Anteriorl... OMIM:600057
Varicose Veins
Varicose veins OMIM:192200
Cardiomyopathy, Dilated, 1Oo
Congestive heart failure, Reduced left ventricular ejection fraction, Premature ventricular contr... OMIM:620247
Renal Cysts And Diabetes Syndrome
Multiple glomerular cysts, Abnormal renal morphology, Biliary tract abnormality, Decreased number... OMIM:137920
Granulomatous Disease, Chronic, X-Linked
Hepatomegaly, Atelectasis, Liver abscess, Lymphadenopathy, Rectal abscess, Granulomatosis, Pleura... OMIM:306400
Bardet-Biedl Syndrome 20
Pancreatitis, Bilateral cryptorchidism, Papilledema, Proteinuria, Atrial septal defect, Male hypo... OMIM:619471
Hereditary Mixed Polyposis Syndrome
Hyperplastic colonic polyposis, Abnormal bleeding, Thyroid carcinoma, Neoplasm of the rectum, Col... ORPHA:157794
Malakoplakia
Abnormal bleeding, Hematuria, Neoplasm of the rectum, Dysuria, Urinary hesitancy, Urinary urgency... ORPHA:556
X-Linked Intellectual Disability, Golabi-Ito-Hall Type
Nail dystrophy, Brittle hair, Growth delay, Short stature, Atrial septal defect, Macroglossia, Dr... ORPHA:93947
Isolated Posterior Meningocele
Neural tube defect, Hydromyelia, Meningocele, Hydrocephalus, Lipomyelomeningocele, Enuresis, Occi... ORPHA:268810
Granulomatous Disease, Chronic, Autosomal Recessive, 1
Hepatomegaly, Liver abscess, Lymphadenopathy, Rectal abscess, Granulomatosis, Lymphadenitis, Recu... OMIM:233700
Granulomatous Disease, Chronic, Autosomal Recessive, 2
Hepatomegaly, Liver abscess, Lymphadenopathy, Rectal abscess, Granulomatosis, Lymphadenitis, Recu... OMIM:233710
Granulomatous Disease, Chronic, Autosomal Recessive, 4
Hepatomegaly, Liver abscess, Lymphadenopathy, Rectal abscess, Granulomatosis, Lymphadenitis, Recu... OMIM:233690
Saethre-Chotzen Syndrome
Narrow palate, Lambdoidal craniosynostosis, Absent first metatarsal, Delayed cranial suture closu... OMIM:101400
Anencephaly 1
Anencephaly, Spina bifida OMIM:206500
Darier-White Disease
Enlargement of parotid gland OMIM:124200
Pancreas, Annular
High intestinal obstruction, Annular pancreas, Duodenal stenosis OMIM:167750
Annular Pancreas
High intestinal obstruction, Annular pancreas, Duodenal stenosis ORPHA:675
Hypoplastic Left Heart Syndrome 2
Hypoplastic left heart, Mitral atresia, Ventricular septal defect, Aortic valve atresia OMIM:614435
Gastrointestinal Stromal Tumor
Esophageal neoplasm, Intestinal obstruction, Neoplasm of the stomach, Gastrointestinal hemorrhage... ORPHA:44890
Diamond-Blackfan Anemia 4
Erythroid hypoplasia, Macrocytic anemia, Reticulocytopenia, Growth delay, Short stature, Atrial s... OMIM:612527
Inhalational Anthrax
Hypotension, Internal hemorrhage, Abnormal sweat gland morphology ORPHA:247257
Craniosynostosis And Dental Anomalies
Narrow palate, Supernumerary tooth, Lambdoidal craniosynostosis, Delayed eruption of teeth, Denta... OMIM:614188
Diaphragmatic Hernia 2
Congenital diaphragmatic hernia, Agenesis of the diaphragm OMIM:222400
Kindler Syndrome
Anal stenosis, Periodontitis, Phimosis, Gingivitis, Carious teeth, Telangiectasia of the skin, Dy... OMIM:173650
Orotic Aciduria
Hematuria, Oroticaciduria, Hypochromia, Folate-unresponsive megaloblastic anemia, Pyrimidine-resp... OMIM:258900
Cleft Lip/Palate-Deafness-Sacral Lipoma Syndrome
Meningocele, Non-midline cleft of the upper lip, Bilateral cleft palate, Sparse scalp hair, Tooth... ORPHA:2003
Parotid Salivary Glands, Polycystic Dysgenetic Disease Of
Enlargement of parotid gland OMIM:600343
Ablepharon-Macrostomia Syndrome
Ventral hernia, Aplastic zygomatic arch, Hypoplastic nipples, Absent eyelashes, Short metacarpal,... OMIM:200110
Multicystic Dysplastic Kidney
Enlarged kidney, Unilateral renal agenesis, Ureterovesical junction obstruction, Hypertension, Ve... ORPHA:1851
Neonatal Inflammatory Skin And Bowel Disease
Slow-growing scalp hair, Anal fissure, Horizontal eyebrow, Left ventricular hypertrophy, Recurren... ORPHA:294023
Agammaglobulinemia 1, Autosomal Recessive
Rectal abscess, B lymphocytopenia, Recurrent sinusitis, Recurrent pneumonia, Bronchiectasis, Recu... OMIM:601495
Immunodeficiency 73A With Defective Neutrophil Chemotaxis And Leukocytosis
Urachal cyst, Macrocytic anemia, Rectal abscess, Reduction of neutrophil motility, Leukocytosis, ... OMIM:608203
Nthl1-Related Attenuated Familial Adenomatous Polyposis
Pancreatic adenocarcinoma, Neoplasm of the rectum, Colon cancer, Ovarian cyst, Adenomatous coloni... ORPHA:454840
Pancreatitis, Hereditary
Pancreatic pseudocyst, Steatorrhea, Pancreatitis, Pleural effusion, Exocrine pancreatic insuffici... OMIM:167800
Manitoba Oculotrichoanal Syndrome
Anal stenosis, Anteriorly placed anus, Abnormality of the hairline, Omphalocele OMIM:248450
Leukocyte Adhesion Deficiency, Type I
Periodontitis, Rectal abscess, Leukocytosis, Gingivitis, Osteomyelitis OMIM:116920
Oculotrichoanal Syndrome
Abnormal hair pattern, Anal stenosis, Anteriorly placed anus ORPHA:2717
Ebstein Anomaly
Atrial fibrillation, Right bundle branch block, Ebstein anomaly of the tricuspid valve, Ventricul... OMIM:224700
Polymerase Proofreading-Related Adenomatous Polyposis
Adenocarcinoma of the colon, Adenomatous colonic polyposis, Neoplasm of the rectum, Colorectal po... ORPHA:447877
Craniofacial-Deafness-Hand Syndrome
Hypoplasia of the maxilla, Malar flattening OMIM:122880
Arteriovenous Malformations Of The Brain
Cerebral arteriovenous malformation OMIM:108010
Autosomal Dominant Palmoplantar Keratoderma And Congenital Alopecia
Absent hair, Nail dystrophy, Trichorrhexis nodosa, Meningocele, Sparse scalp hair, Absent eyebrow... ORPHA:1010
Tropical Pancreatitis
Jaundice, Maternal diabetes, Abnormal pancreatic duct morphology, Pancreatic calcification, Pancr... ORPHA:103918
Mismatch Repair Cancer Syndrome 3
Colon cancer, Neoplasm of the rectum OMIM:619097

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 Chtop

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 Chtop.

There are 6 publications which use IMPC produced mice or data.

Title Journal IMPC Allele PubMed ID
A Genome-Wide Screen in Mice To Identify Cell-Extrinsic Regulators of Pulmonary Metastatic Colonisation. G3 (Bethesda, Md.) (June 2020) Chtoptm1a(EUCOMM)Wtsi PMC7263671
High-throughput phenotyping reveals expansive genetic and structural underpinnings of immune variation. Nature immunology (December 2019) Chtoptm1a(EUCOMM)Wtsi PMC7338221
Large-scale neuroanatomical study uncovers 198 gene associations in mouse brain morphogenesis. Nature communications (August 2019) Chtoptm1a(EUCOMM)Wtsi PMC6671969
Mouse screen reveals multiple new genes underlying mouse and human hearing loss. PLoS biology (April 2019) Chtoptm1a(EUCOMM)Wtsi PMC6459510
Genome wide in vivo mouse screen data from studies to assess host regulation of metastatic colonisation. Scientific data (September 2017) Chtoptm1a(EUCOMM)Wtsi PMC5827107
Highly variable penetrance of abnormal phenotypes in embryonic lethal knockout mice. Wellcome open research (January 2016) Chtoptm1a(EUCOMM)Wtsi PMC5159622

Order Mouse and ES Cells

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MGI Allele Allele Type Produced
Chtoptm1e(EUCOMM)Wtsi Targeted, non-conditional allele ES Cells
Chtoptm1(KOMP)Vlcg Reporter-tagged deletion allele (with selection cassette) ES Cells
Chtoptm1a(EUCOMM)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Mice, Targeting vectors, ES Cells

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