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Gene: Wnt5a MGI:98958

Not currently registered for phenotyping at IMPC

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

Gene Summary

Name:

wingless-type MMTV integration site family, member 5A

Synonyms:

Wnt-5a, 8030457G12Rik

Order Alleles

IMPC Data Collections

No Body Weight Data
No Embryo Imaging Data
No Viability Data

IMPC Phenotype Summary

Significant

Not Significant

Not tested

View all our phenotype data below

Phenotypes

The IMPC applies a panel of phenotyping screens to characterise single-gene knockout mice by comparison to wild types. Click on the different tabs to visualise significant phenotypes identified by the IMPC, as well as all data that was measured.

lacZ Expression

Expression data not available

Associated Images

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

Phenotype associated images not available

Human diseases caused by Wnt5a 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.

Human diseases associated with Wnt5a (2 diseases)
Human diseases predicted to be associated with Wnt5a (2720 diseases)

The table below shows human diseases associated to Wnt5a by orthology or direct annotation.

Disease	Similarity of phenotypes	Matching phenotypes	Source
Autosomal Dominant Robinow Syndrome		Retrognathia, Hypoplasia of penis, Abnormal form of the vertebral bodies, Pectus carinatum, Pectu...	ORPHA:3107
Robinow Syndrome, Autosomal Dominant 1		Retrognathia, Radial deviation of finger, Dislocated radial head, Dental crowding, Short long bon...	OMIM:180700

The table below shows human diseases predicted to be associated to Wnt5a by phenotypic similarity.

Disease	Matching phenotypes	Source
14Q24.1Q24.3 Microdeletion Syndrome	Short nose, Ectopic kidney, Dislocated radial head, Limited elbow extension and supination, Trunc...	ORPHA:401935
Greenberg Dysplasia	Retrognathia, Short ribs, Short long bone, Decreased skull ossification, Short metacarpal, Multip...	OMIM:215140
Atelosteogenesis, Type I	Clubbing, Tibial bowing, Short metacarpal, Short humerus, Thoracic hypoplasia, Thoracic platyspon...	OMIM:108720
Ritscher-Schinzel Syndrome 2	Convex nasal ridge, Clinodactyly of the 5th finger, Short philtrum, Prominent fingertip pads, Hig...	OMIM:300963
Omodysplasia 2	Dislocated radial head, Bifid nasal tip, Broad femoral neck, Short humerus, Long philtrum, Bilate...	OMIM:164745
Femoral-Facial Syndrome	Microtia, Long philtrum, Abnormal sacrum morphology, Abnormal fibula morphology, Scoliosis, Aplas...	ORPHA:1988
Diastrophic Dysplasia	Proximal placement of thumb, Abnormal form of the vertebral bodies, Kyphosis, Joint stiffness, Sy...	ORPHA:628
Acrodysostosis	Abnormal female external genitalia morphology, Abnormal femur morphology, Abnormal form of the ve...	ORPHA:950
Congenital Absence Of Upper Arm And Forearm With Hand Present	Polydactyly, Abnormal hip bone morphology, Abnormal lung morphology, Congenital malformation of t...	ORPHA:294975
Fibrodysplasia Ossificans Progressiva	Abnormality of the first metatarsal bone, Widely spaced teeth, Clinodactyly of the 5th finger, Sh...	OMIM:135100
Microcephaly-Cardiac Defect-Lung Malsegmentation Syndrome	Abnormal lung lobation, Bilateral single transverse palmar creases, High, narrow palate, Truncus ...	ORPHA:2516
Acro-Renal-Mandibular Syndrome	Pectus carinatum, Kyphosis, Tracheoesophageal fistula, Split foot, Hip dislocation, Hypoplasia of...	ORPHA:958
Microphthalmia, Syndromic 12	Retrognathia, Hypoplastic left atrium, Cryptorchidism, Intestinal malrotation, Micrognathia, Clef...	OMIM:615524
Metatropic Dysplasia	Kyphoscoliosis, Narrow greater sciatic notch, Relatively short spine, Short ribs, Long coccyx, Fl...	OMIM:156530
Intellectual Developmental Disorder With Cardiac Defects And Dysmorphic Facies	Pectus excavatum, Intestinal malrotation, Long philtrum, Overlapping toe, Long toe, Hypospadias, ...	OMIM:618316
Mesomelic Dwarfism-Cleft Palate-Camptodactyly Syndrome	Abnormal lung lobation, Thin vermilion border, Retrognathia, Abnormal metaphysis morphology, Abno...	ORPHA:2631
Opsismodysplasia	Short long bone, Flat acetabular roof, Short metacarpal, Hypoplastic ischia, Hypoplastic vertebra...	OMIM:258480
Metatropic Dysplasia	Abnormal form of the vertebral bodies, Kyphosis, Joint stiffness, Low-set, posteriorly rotated ea...	ORPHA:2635
Autosomal Recessive Spondylocostal Dysostosis	Abnormal form of the vertebral bodies, Kyphosis, Umbilical hernia, Long philtrum, Hypospadias, Lo...	ORPHA:2311
Diastrophic Dysplasia	Kyphoscoliosis, Cystic lesions of the pinnae, Short long bone, Patellar dislocation, Short finger...	OMIM:222600
Spondyloperipheral Dysplasia	Rhizomelic leg shortening, Cone-shaped epiphyses of the phalanges of the hand, Sensorineural hear...	OMIM:271700
Short Stature, Auditory Canal Atresia, Mandibular Hypoplasia, And Skeletal Abnormalities	Narrow greater sciatic notch, Dislocated radial head, Short humerus, Hip dislocation, Hypoplasia ...	OMIM:602471
Atelosteogenesis, Type Ii	Sandal gap, Short greater sciatic notch, Bifid humerus, Flat acetabular roof, Death in infancy, D...	OMIM:256050
Chromosome 22Q11.2 Deletion Syndrome, Distal	Truncus arteriosus, Cleft palate, Malar flattening, Smooth philtrum, Thin upper lip vermilion, Un...	OMIM:611867
Brachytelephalangic Chondrodysplasia Punctata	Mixed hearing impairment, Short distal phalanx of toe, Short distal phalanx of finger, Tracheal s...	ORPHA:79345
3M Syndrome	Rocker bottom foot, Hyperlordosis, Enlarged thorax, Everted lower lip vermilion, Kyphosis, Hypopl...	ORPHA:2616
Postaxial Polydactyly-Dental And Vertebral Anomalies Syndrome	Clinodactyly of the 5th finger, Abnormal form of the vertebral bodies, Aplasia/Hypoplasia of the ...	ORPHA:2916
Robinow Syndrome, Autosomal Recessive 1	Retrognathia, Hypoplastic sacrum, Radial deviation of finger, Mesomelic arm shortening, Dislocate...	OMIM:268310
Opsismodysplasia	Abnormal metaphysis morphology, Short nose, Narrow chest, Squared iliac bones, Hypoplastic pubic ...	ORPHA:2746
Mosaic Trisomy 14	Bilateral single transverse palmar creases, Hypospadias, Low-set, posteriorly rotated ears, Hypop...	ORPHA:1703
Dysosteosclerosis	Short ribs, Broad femoral neck, Hypoplastic vertebral bodies, Delayed closure of the anterior fon...	OMIM:224300
17Q21.31 Microduplication Syndrome	Delayed puberty, Short nose, Clinodactyly of the 5th finger, Short philtrum, Sandal gap, Antevert...	ORPHA:217340
Multiple Synostoses Syndrome 1	Proximal/middle symphalangism of 5th toe, Radial deviation of finger, Dislocated radial head, Pec...	OMIM:186500
14Q11.2 Microdeletion Syndrome	Short nose, Exaggerated cupid's bow, High palate, Everted lower lip vermilion, Narrow mouth, Toe ...	ORPHA:261120
Cenani-Lenz Syndrome	Abnormal form of the vertebral bodies, Oligodactyly, Hip dislocation, Hypoplasia of the ulna, Hyp...	ORPHA:3258
Autosomal Dominant Spondylocostal Dysostosis	Spina bifida occulta, Short thorax, Anteverted nares, Scoliosis, Hyperlordosis, Vertebral segment...	ORPHA:1797
Camptodactyly Syndrome, Guadalajara Type 1	Abnormal form of the vertebral bodies, Pectus carinatum, Microtia, Pectus excavatum, Delayed skel...	ORPHA:1327
Lowe-Kohn-Cohen Syndrome	Anorectal anomaly, Nephropathy, Anal atresia	ORPHA:2408
Orofaciodigital Syndrome Type 2	Cone-shaped epiphyses of the phalanges of the hand, Abnormal oral frenulum morphology, Tongue nod...	ORPHA:2751
Genitopalatocardiac Syndrome	Transposition of the great arteries, Hypospadias, Right aortic arch, Renal cyst, Cleft upper lip,...	OMIM:231060
Spondyloperipheral Dysplasia-Short Ulna Syndrome	Limited elbow extension, Hypoplasia of the ulna, Type E brachydactyly, Delayed pubic bone ossific...	ORPHA:1856
Aarskog-Scott Syndrome	Abnormal pinna morphology, Pectus excavatum, Everted lower lip vermilion, Umbilical hernia, Joint...	ORPHA:915
Microcephaly, Congenital Heart Disease, Unilateral Renal Agenesis, And Hyposegmented Lungs	Unilateral renal agenesis, Truncus arteriosus, Cleft palate, Short distal phalanx of finger, Vent...	OMIM:601355
Axial Spondylometaphyseal Dysplasia	Narrow greater sciatic notch, Hypoplastic iliac wing, Delayed ossification of carpal bones, Short...	ORPHA:168549
Verheij Syndrome	Retrognathia, Short nose, Anteverted nares, Truncus arteriosus, Renal cyst, Renal hypoplasia, Cli...	OMIM:615583
Congenital Disorder Of Glycosylation, Type Iig	Kyphoscoliosis, Microtia, Short long bone, Glossoptosis, Broad femoral neck, Long philtrum, Butte...	OMIM:611209
Rhizomelic Dysplasia, Patterson-Lowry Type	Short nose, Genu valgum, Rhizomelia, Wide nose, Abnormal form of the vertebral bodies, Mandibular...	ORPHA:2831
Phenobarbital Embryopathy	Aplasia/Hypoplasia of fingers, Hypospadias, Mandibular prognathia, Abnormal nasal base norphology...	ORPHA:1919
Ulnar Hemimelia	Limited elbow movement, Dislocated radial head, Elbow pain, Congenital finger flexion contracture...	ORPHA:93320
Truncus Arteriosus	Adrenocortical abnormality, Pulmonic stenosis, Abnormal heart morphology, Cardiomegaly, Transposi...	ORPHA:3384
Scimitar Syndrome	Bronchogenic cyst, Pulmonary sequestration, Mitral atresia, Abnormal heart morphology, Interrupte...	ORPHA:185
Autosomal Dominant Omodysplasia	Short nose, Rhizomelia, Short 1st metacarpal, Hypoplasia of penis, Elbow dislocation, Bifid scrot...	ORPHA:93328
Anus, Imperforate	Ectopic anus, Hypospadias, Anal atresia	OMIM:301800
Fibrochondrogenesis 1	Narrow greater sciatic notch, Abnormal pinna morphology, Short ribs, Short long bone, Dumbbell-sh...	OMIM:228520
Heterotaxy, Visceral, 7, Autosomal	Hypoplasia of right ventricle, Situs inversus totalis, Transposition of the great arteries, Abnor...	OMIM:616749
Spondylometaphyseal Dysplasia, X-Linked	Short finger, Platyspondyly, Respiratory insufficiency, Anteverted nares, Hyperextensibility of t...	OMIM:313420
Lethal Kniest-Like Dysplasia	Abnormal ischium morphology, Abnormal cartilage matrix, Narrow chest, Flared metaphysis, Mesomeli...	ORPHA:2347
Pallister-Hall-Like Syndrome	Short nose, Anterior hypopituitarism, Short ribs, Postaxial hand polydactyly, Micromelia, Microgn...	OMIM:241800
Mmep Syndrome	Orofacial cleft, Triphalangeal thumb, Mandibular prognathia, Cryptorchidism, Split foot, Ventricu...	ORPHA:3434
Polydactyly, Postaxial, Type A1	Preaxial polydactyly, Triphalangeal thumb, Postaxial hand polydactyly, Y-shaped metacarpals, Anal...	OMIM:174200
Spondyloepiphyseal Dysplasia With Atlantoaxial Instability	Spondylolysis, Spondylolisthesis at L5-S1, Ankle clonus, Tongue fasciculations, Delayed skeletal ...	OMIM:600561
Fanconi Anemia, Complementation Group O	Hypoplasia of the radius, External genital hypoplasia, Proximal placement of thumb, Anal atresia,...	OMIM:613390
Acrocardiofacial Syndrome	Hypoplasia of penis, Split foot, Hypospadias, Abnormal metacarpal morphology, Truncus arteriosus,...	ORPHA:2008
Acrocapitofemoral Dysplasia	Cone-shaped epiphyses of the phalanges of the hand, Hypoplastic iliac wing, Delayed ossification ...	OMIM:607778
Recombinant Chromosome 8 Syndrome	Pectus excavatum, Pulmonic stenosis, Anteverted nares, Abnormality of the dentition, Camptodactyl...	OMIM:179613
Robin Sequence-Oligodactyly Syndrome	Clinodactyly of the 5th finger, Abnormal metacarpal morphology, Abnormal form of the vertebral bo...	ORPHA:3104
Acrodysostosis 1 With Or Without Hormone Resistance	Cone-shaped epiphyses of the phalanges of the hand, Dislocated radial head, Calvarial hyperostosi...	OMIM:101800
Otopalatodigital Syndrome Type 1	Proximal placement of thumb, Sandal gap, Hypoplastic frontal sinuses, Short distal phalanx of fin...	ORPHA:90650
Autosomal Recessive Robinow Syndrome	Chronic otitis media, Bilateral single transverse palmar creases, Abnormal hip bone morphology, S...	ORPHA:1507
Holzgreve Syndrome	Cleft upper lip, Hand polydactyly, Cleft palate, Renal hypoplasia, Hypoplastic left heart	OMIM:236110
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia	Aplasia/hypoplasia of the femur, Proximal placement of thumb, Hypoplastic pubic ramus, Dislocated...	OMIM:609945
Spondylometaphyseal Dysplasia, 'Corner Fracture' Type	Abnormal bone ossification, Reduced bone mineral density, Biconvex vertebral bodies, Hypoplastic ...	ORPHA:93315
Congenital Arthrogryposis With Anterior Horn Cell Disease	Rocker bottom foot, Retrognathia, Single transverse palmar crease, Scoliosis, High palate, Low-se...	OMIM:611890
Tibial Hemimelia	Aplasia of the 4th metacarpal, Proximal tibial and fibular fusion, Oligodactyly, Increased laxity...	ORPHA:93322
Absence Deformity Of Leg-Cataract Syndrome	Abnormal femur morphology, Lower limb undergrowth, Anal atresia	ORPHA:2310
Intellectual Disability, Wolff Type	Orofacial cleft, Thick lower lip vermilion, Clinodactyly of the 5th finger, Hypospadias, Non-midl...	ORPHA:3080
Multiple Epiphyseal Dysplasia Type 4	Abnormal earlobe morphology, Skewfoot, Abnormal pinna morphology, Stiff ankle, Short metacarpal, ...	ORPHA:93307
X-Linked Intellectual Disability, Siderius Type	Orofacial cleft, Decreased testicular size, Cleft upper lip, Large hands, Broad nasal tip, Preaxi...	ORPHA:85287
Leri-Weill Dyschondrosteosis	Limited elbow movement, Tibial bowing, Increased carrying angle, Mesomelia, Coxa valga, Hypoplasi...	OMIM:127300
Multiple Pterygium Syndrome, Escobar Variant	Rocker bottom foot, Dislocated radial head, Kyphosis, Arachnodactyly, Syndactyly, Umbilical herni...	OMIM:265000
Acromesomelic Dysplasia 2A	Hypoplasia of the ulna, Hypoplasia of the radius, Fibular hypoplasia, Aplasia/Hypoplasia of metat...	OMIM:200700
Adams-Oliver Syndrome 6	Esophageal varix, Truncus arteriosus, Renal hypoplasia, Foot oligodactyly, Syndactyly, Brachydact...	OMIM:616589
Hypoglossia-Hypodactyly Syndrome	Aplasia/Hypoplasia of fingers, Finger syndactyly, Hypodontia, Adactyly, Split hand, High palate, ...	ORPHA:989
Brachydactyly Type A1	Hypoplasia of the ulna, Cone-shaped epiphysis, Clinodactyly of the 5th finger, Distal symphalangi...	ORPHA:93388
Metaphyseal Dysplasia, Braun-Tinschert Type	Exostoses of the ulna, Tibial bowing, Wide proximal femoral metaphysis, Broad femoral neck, Hypop...	ORPHA:85188
Double Outlet Right Ventricle	Hypoparathyroidism, Truncus arteriosus, Narrow mouth, Pulmonary artery atresia, Aplasia/Hypoplasi...	ORPHA:3426
Familial Median Cleft Of The Upper And Lower Lips	Fusion of gums, Irregular dentition, Abnormal maxilla morphology, Cleft upper lip, Cleft lower li...	ORPHA:401942
Burn-Mckeown Syndrome	Thin vermilion border, Bilateral choanal atresia, Unilateral renal agenesis, Short philtrum, Bila...	OMIM:608572
Tonne-Kalscheuer Syndrome	Convex nasal ridge, Widely spaced teeth, Hypospadias, Narrow mouth, Prominent nose, Broad thumb, ...	OMIM:300978
Distal Deletion 17Q	Bilateral single transverse palmar creases, Abnormal thumb morphology, Abnormal hip bone morpholo...	ORPHA:1597
Orofaciodigital Syndrome Xvii	Polydactyly, Retrognathia, High, narrow palate, Clubbing of fingers, Central Y-shaped metacarpal,...	OMIM:617926
Kallmann Syndrome-Heart Disease Syndrome	Delayed puberty, Partial anosmia, Anomalous origin of left coronary artery from the pulmonary art...	ORPHA:2326
Robinow Syndrome	Kyphoscoliosis, Mixed hearing impairment, Mesomelic arm shortening, Broad alveolar ridges, Dental...	ORPHA:97360
Gm1 Gangliosidosis Type 1	Long philtrum, Gingival overgrowth, Beaking of vertebral bodies T12-L3, Platyspondyly, Spatulate ...	ORPHA:79255
Neurodevelopmental Disorder With Spasticity, Hypomyelinating Leukodystrophy, And Brain Abnormalities	Femoral retroversion, Unilateral wrist flexion contracture, Micrognathia, Pulmonary hypoplasia, O...	OMIM:616531
Ritscher-Schinzel Syndrome 1	Decreased response to growth hormone stimulation test, Hypospadias, Adrenal hypoplasia, Anal atre...	OMIM:220210
Kbg Syndrome	Persistent open anterior fontanelle, Delayed skeletal maturation, Cervical ribs, Long philtrum, A...	ORPHA:2332
Caudal Regression Syndrome	Aplasia/Hypoplasia of the sacrum, Orofacial cleft, Abnormal iliac wing morphology, Scoliosis, Abn...	ORPHA:3027
Cleft Palate, Cardiac Defects, And Impaired Intellectual Development	Perimembranous ventricular septal defect, Gastroesophageal reflux, Short 2nd finger, Sandal gap, ...	OMIM:600987
Crossed Polysyndactyly	Aplasia/Hypoplasia of the thumb, Finger syndactyly, Hypoplasia of penis, Abnormality of the philt...	ORPHA:2935
Craniosynostosis-Hydrocephalus-Arnold-Chiari Malformation Type I-Radioulnar Synostosis Syndrome	Short nose, Thin vermilion border, Hypospadias, Anteverted nares, Microtia, Pectus carinatum, Low...	ORPHA:171839
Frontonasal Dysplasia 1	Joint contracture of the hand, Short columella, Radial deviation of finger, Pectoral muscle hypop...	OMIM:136760
Vitamin K Antagonist Embryofetopathy	Short nose, Epiphyseal stippling, Respiratory insufficiency, Anteverted nares, Microtia, Choanal ...	ORPHA:1914
Spondyloepiphyseal Dysplasia-Brachydactyly-Speech Disorder Syndrome	Microtia, Short long bone, Enlarged thorax, Aplasia/Hypoplasia involving the pelvis, Pectus excav...	ORPHA:163654
Conotruncal Heart Malformations	Transposition of the great arteries, Truncus arteriosus, Postaxial polydactyly, Coarctation of ao...	OMIM:217095
Diamond-Blackfan Anemia 6	Retrognathia, Triphalangeal thumb, Macrocytic anemia, Increased mean corpuscular volume, Ventricu...	OMIM:612561
Hadziselimovic Syndrome	Thick lower lip vermilion, Anteverted nares, Ventricular hypertrophy, High palate, Pulmonary arte...	OMIM:612946
Imperforate Oropharynx-Costovertebral Anomalies Syndrome	Clinodactyly of the 5th finger, Abnormal form of the vertebral bodies, Abnormality of the philtru...	ORPHA:2759
Cutaneous Mastocytosis, Conductive Hearing Loss And Microtia	Clinodactyly of the 5th finger, Joint contracture of the 5th finger, Scoliosis, Microtia, High pa...	OMIM:248910
Fibrodysplasia Ossificans Progressiva	Abnormality of the first metatarsal bone, Spinal rigidity, Abnormal vertebral morphology, Clinoda...	ORPHA:337
Langer Mesomelic Dysplasia	Hypoplasia of the ulna, Hypoplasia of the radius, Fibular hypoplasia, Mesomelic arm shortening, M...	OMIM:249700
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type	Microtia, Short ribs, Flat acetabular roof, Short long bone, Hypoplastic ischia, Iliac crest serr...	OMIM:613320
Becker Nevus Syndrome	Abnormal tibia morphology, Spina bifida occulta, Pectus carinatum, Scoliosis, Hypoplastic labia m...	ORPHA:64755
Fallot Complex-Intellectual Disability-Growth Delay Syndrome	Hypoplastic nasal tip, Clubbing of fingers, Single transverse palmar crease, 2-3 toe syndactyly, ...	ORPHA:3304
Autosomal Recessive Amelia	Orofacial cleft, Hypoplasia of penis, Non-midline cleft of the upper lip, Amelia involving the up...	ORPHA:1027
Autosomal Recessive Multiple Pterygium Syndrome	Hypoplasia of penis, Abnormal sternum morphology, Pectus excavatum, Symphalangism affecting the p...	ORPHA:2990
Stankiewicz-Isidor Syndrome	Retrognathia, Ureteral duplication, Hypospadias, 2-3 toe syndactyly, Truncus arteriosus, Cryptorc...	OMIM:617516
Rhizomelic Chondrodysplasia Punctata, Type 2	Osteopenia, Rhizomelia, Epiphyseal stippling, Anteverted nares, Scoliosis, Stippled calcification...	OMIM:222765
Kyphomelic Dysplasia	Femoral bowing, Flat acetabular roof, Short metacarpal, Tibial bowing, Short humerus, Thoracic hy...	OMIM:211350
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy	Occipital encephalocele, Rhizomelic leg shortening, Short ribs, Abnormal 5th metacarpal morpholog...	ORPHA:397715
Difference Of Sex Development-Intellectual Disability Syndrome	Short nose, Thin vermilion border, Reduced bone mineral density, Genu valgum, Low-set, posteriorl...	ORPHA:2983
Fibulo-Ulnar Hypoplasia-Renal Anomalies Syndrome	Hypoplasia of the ulna, Hypoplasia of penis, Finger syndactyly, Aplasia of the proximal phalanges...	ORPHA:2256
Rhizomelic Dysplasia, Ain-Naz Type	Rhizomelia, Wide distal femoral metaphysis, Limitation of joint mobility, Hypoplasia of the femor...	OMIM:619598
Phocomelia-Ectrodactyly-Deafness-Sinus Arrhythmia Syndrome	Abnormal nostril morphology, Hypoplasia of the ulna, Abnormality of the wrist, Radial club hand, ...	ORPHA:2878
Pelvis-Shoulder Dysplasia	Aplasia/hypoplasia of the femur, Abnormal form of the vertebral bodies, Dislocated radial head, A...	ORPHA:2839
Spondyloepiphyseal Dysplasia-Brachydactyly And Distinctive Speech	Anterior scalloping of vertebral bodies, Hypoplastic iliac wing, Microtia, Short long bone, Short...	OMIM:611717
Spondyloepimetaphyseal Dysplasia, Shohat Type	Narrow greater sciatic notch, Short ribs, Metaphyseal irregularity, Joint hypermobility, Genu var...	OMIM:602557
Ulbright-Hodes Syndrome	Clitoral hypertrophy, Abnormal pinna morphology, Short ribs, Short metacarpal, Mesomelia, Short h...	ORPHA:3404
Spondylocostal Dysostosis 3, Autosomal Recessive	Supernumerary vertebral ossification centers, Scoliosis, Vertebral segmentation defect, Kyphosis,...	OMIM:609813
Pseudoachondroplasia	Abnormal form of the vertebral bodies, Short long bone, Increased laxity of ankles, Flat acetabul...	ORPHA:750
Rhizomelic Chondrodysplasia Punctata, Type 5	Pes cavus, Swan neck-like deformities of the fingers, Metaphyseal cupping, Narrow iliac wing, Cox...	OMIM:616716
Faciocardiomelic Dysplasia, Lethal	Hypoplasia of the ulna, Hypoplasia of the radius, Fibular hypoplasia, Retrognathia, Talipes, Radi...	OMIM:227270
Brachydactyly, Type B1	Hypoplastic sacrum, Aplasia/Hypoplasia of the distal phalanges of the hand, Delayed cranial sutur...	OMIM:113000
Otopalatodigital Syndrome Type 2	Abnormal pinna morphology, Glossoptosis, Myelomeningocele, Hypoplastic frontal sinuses, Flared il...	ORPHA:90652
Lethal Osteosclerotic Bone Dysplasia	Short nose, Retrognathia, Gingival fibromatosis, Anteverted nares, Delayed cranial suture closure...	ORPHA:1832
Wilson-Turner Syndrome	Pes cavus, Malar prominence, Microtia, Tapered finger, Short foot, Micrognathia, Thin upper lip v...	ORPHA:3459
Femoral-Facial Syndrome	Limited elbow movement, Aplasia/hypoplasia of the femur, Short humerus, Absent vertebra, Syndacty...	OMIM:134780
Atelosteogenesis Type Ii	Wide nasal base, Sandal gap, Tracheobronchomalacia, Bilateral cleft palate, Short ribs, Short met...	ORPHA:56304
Microphthalmia With Limb Anomalies	Retrognathia, Sandal gap, Tibial bowing, 4-5 metacarpal synostosis, Hip dislocation, Interrupted ...	OMIM:206920
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 3	Hypoplasia of the ulna, Metaphyseal irregularity, Multiple joint dislocation, Carpal bone hypopla...	OMIM:618395
Pallister-Hall Syndrome	Microtia, Oligodactyly, Shortening of all distal phalanges of the fingers, Mesomelia, Syndactyly,...	OMIM:146510
Osebold-Remondini Syndrome	Hypoplasia of the ulna, Hypoplasia of the radius, Fibular hypoplasia, Tarsal synostosis, Broad fi...	OMIM:112910
Hypertelorism, Microtia, Facial Clefting Syndrome	Tessier cleft, Ectopic kidney, 2-3 toe syndactyly, Narrow mouth, Cleft upper lip, Micrognathia, A...	OMIM:239800
Van Den Ende-Gupta Syndrome	Narrow foot, Dislocated radial head, Small earlobe, Dental crowding, Short ribs, Femoral bowing, ...	OMIM:600920
Postaxial Acrofacial Dysostosis	Pectus excavatum, Syndactyly, Hypoplasia of the ulna, Hypoplasia of the radius, Conical tooth, Mi...	OMIM:263750
Synpolydactyly 1	Clinodactyly of the 5th finger, 6 metacarpals, Finger syndactyly, Short middle phalanx of the 5th...	OMIM:186000
Leg, Absence Deformity Of, With Congenital Cataract	Duplication involving bones of the feet, Anal atresia	OMIM:246000
Congenital Disorder Of Glycosylation, Type Ig	Butterfly vertebrae, Hypoplasia of the radius, Rhizomelia, Hypospadias, Wide nose, Sandal gap, Sh...	OMIM:607143
Diaphragmatic Defect-Limb Deficiency-Skull Defect Syndrome	Abnormal femur morphology, Clinodactyly of the 5th finger, Finger syndactyly, Abnormality of the ...	ORPHA:2141
Verloove Vanhorick-Brubakk Syndrome	Tarsal synostosis, Abnormal femur morphology, Abnormal metacarpal morphology, Abnormal form of th...	ORPHA:3429
Spondyloepimetaphyseal Dysplasia, Shohat Type	Generalized bone demineralization, Hyperlordosis, Short long bone, Thoracic hypoplasia, Metaphyse...	ORPHA:93352
Acitretin/Etretinate Embryopathy	Atrioventricular canal defect, Aplasia/hypoplasia involving bones of the upper limbs, Hypoplastic...	ORPHA:40366
Intellectual Developmental Disorder, X-Linked 91	Short nose, Cubitus valgus, High palate, Clinodactyly, Short 5th finger, Short foot, Macrodontia,...	OMIM:300577
Cleft-Limb-Heart Malformation Syndrome	Truncus arteriosus, Syndactyly	OMIM:215850
Cenani-Lenz Syndactyly Syndrome	Hypoplasia of the ulna, Hypoplasia of the radius, Metacarpal synostosis, Scoliosis, Hemivertebrae...	OMIM:212780
Lethal Congenital Contracture Syndrome 10	Narrow palate, Convex nasal ridge, Adducted thumb, Cardiomegaly, Femoral bowing, High palate, Ven...	OMIM:617022
Mosaic Trisomy 1	Rocker bottom foot, Broad 2nd toe, Arachnodactyly, Wide mouth, Long toe, Deviation of the 5th toe...	ORPHA:1692
Osteochondrodysplasia, Brachydactyly, And Overlapping Malformed Digits	Overlapping fingers, Sandal gap, Short hallux, Scoliosis, Absent dorsal skin creases over affecte...	OMIM:618167
Disorganization, Mouse, Homolog Of	Cleft upper lip, Hand polydactyly, Cleft palate, Limb duplication, Hip dislocation	OMIM:223200
Intellectual Developmental Disorder, Autosomal Recessive 35	Hypoplasia of the ulna, Wide nose, Microtia, Thick nasal alae, Low-set ears, Everted lower lip ve...	OMIM:615162
Charlie M Syndrome	Thin vermilion border, Triphalangeal thumb, Abnormal metacarpal morphology, Short philtrum, Finge...	ORPHA:1406
Acrocephalopolydactyly	Short nose, Genu recurvatum, Microtia, Short long bone, Depressed nasal ridge, Limb undergrowth, ...	ORPHA:221054
Emanuel Syndrome	Dental crowding, Pulmonic stenosis, Aortic valve stenosis, Intestinal malrotation, Recurrent sinu...	OMIM:609029
Orofaciodigital Syndrome Viii	Polydactyly, Bifid nasal tip, High palate, Cleft palate, Recurrent aspiration pneumonia, Syndacty...	OMIM:300484
Bowen-Conradi Syndrome	Abnormal lung lobation, Orofacial cleft, Rocker bottom foot, Clinodactyly of the 5th finger, Camp...	ORPHA:1270
Short Ulna-Dysmorphism-Hypotonia-Intellectual Disability Syndrome	Hypoplasia of the ulna, Wide nose, Microtia, Thick nasal alae, Low-set ears, Everted lower lip ve...	ORPHA:357175
Brachydactyly Type A7	Finger symphalangism, Short middle phalanx of the 5th toe, Clinodactyly of the 5th finger, Sandal...	ORPHA:93397
Cleft Palate-Short Stature-Vertebral Anomalies Syndrome	Short nose, Abnormal vertebral morphology, Low-set, posteriorly rotated ears, Anteverted nares, M...	ORPHA:2015
Fryns Syndrome	Abnormal aortic arch morphology, Intestinal malrotation, Wide mouth, Long philtrum, Short distal ...	ORPHA:2059
Dysosteosclerosis	Abnormal metaphysis morphology, Craniofacial hyperostosis, Delayed eruption of teeth, Increased b...	ORPHA:1782
Léri-Weill Dyschondrosteosis	Abnormal femur morphology, Abnormal hip bone morphology, Tibial bowing, Joint stiffness, Mesomeli...	ORPHA:240
Radioulnar Synostosis-Microcephaly-Scoliosis Syndrome	Clinodactyly of the 5th finger, Finger syndactyly, Pectus carinatum, Scoliosis, Abnormality of th...	ORPHA:3268
Maxillonasal Dysplasia	Abnormal nostril morphology, Short nose, Patchy distortion of vertebrae, Scoliosis, Mandibular pr...	ORPHA:1248
Gm1-Gangliosidosis, Type Ii	Beaking of vertebral bodies, Platyspondyly, Scoliosis, Gingival overgrowth, Narrow mouth, Protrud...	OMIM:230600
Spondylometaphyseal Dysplasia, Corner Fracture Type	Hyperconvex vertebral body endplates, Corner fracture of metaphysis, Pectus carinatum, Scoliosis,...	OMIM:184255
Pierre Robin Sequence With Facial And Digital Anomalies	Clinodactyly of the 5th finger, Easily subluxated first metacarpophalangeal joints, Glossoptosis,...	OMIM:311895
Schneckenbecken Dysplasia	Abnormal metaphysis morphology, Diaphyseal undertubulation, Fibular hypoplasia, Lateral clavicle ...	ORPHA:3144
Spondyloepimetaphyseal Dysplasia, Guo-Campeau Type	Proximal placement of thumb, Clinodactyly of the 2nd finger, Dislocated radial head, Absent toe, ...	OMIM:620663
Spondylocostal Dysostosis 1, Autosomal Recessive	Kyphoscoliosis, Abnormal odontoid process morphology, Hemivertebrae, Vertebral segmentation defec...	OMIM:277300
Mucopolysaccharidosis, Type Iiid	Broad alveolar ridges, Joint stiffness, Hypoplastic vertebral bodies, Wide mouth, Thickened ribs,...	OMIM:252940
Rhizomelic Dysplasia, Patterson-Lowry Type	Rhizomelia, Short metatarsal, Short metacarpal, Deformed humeral heads, Coxa vara, Short humerus,...	OMIM:601438
Microphthalmia, Syndromic 9	Multilobulated spleen, Right aortic arch with mirror image branching, Pulmonic stenosis, Alveolar...	OMIM:601186
Diaphragmatic Hernia 4, With Cardiovascular Defects	Clinodactyly of the 5th finger, 11 pairs of ribs, Aortic root aneurysm, Finger syndactyly, 2-3 to...	OMIM:620025
Acrorenal-Mandibular Syndrome	Kyphoscoliosis, Unicornuate uterus, Split foot, Hip dislocation, Hypoplasia of the ulna, Butterfl...	OMIM:200980
Meier-Gorlin Syndrome 1	Clitoral hypertrophy, Absent sternal ossification, Pectus carinatum, Microtia, Short ribs, Microd...	OMIM:224690
Pierpont Syndrome	Deep plantar creases, Prominent fingertip pads, Everted lower lip vermilion, Broad philtrum, Prom...	OMIM:602342
Chromosome 13Q33-Q34 Deletion Syndrome	Pulmonic stenosis, Left ventricular hypertrophy, Overlapping toe, Penoscrotal transposition, Adva...	OMIM:619148
Pulmonary Atresia-Intact Ventricular Septum Syndrome	Maternal diabetes, Pulmonary artery atresia, Abnormal tricuspid valve morphology, Patent ductus a...	ORPHA:1208
Lethal Congenital Contracture Syndrome 11	Retrognathia, Elbow flexion contracture, Camptodactyly, Bilateral talipes equinovarus, Pulmonary ...	OMIM:617194
Weiss-Kruszka Syndrome	Short nose, Decreased response to growth hormone stimulation test, Clinodactyly of the 5th finger...	ORPHA:502430
Catel-Manzke Syndrome	Chronic otitis media, Clinodactyly of the 5th finger, Low-set, posteriorly rotated ears, Scoliosi...	ORPHA:1388
Catel-Manzke Syndrome	Low insertion of columella, Pectus carinatum, Glossoptosis, Short metacarpal, Pectus excavatum, U...	OMIM:616145
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type	Short ribs, Unilateral cleft lip, Cardiomegaly, Adducted thumb, Hypospadias, Anteverted nares, Cl...	OMIM:616897
Van Bogaert-Hozay Syndrome	Osteolytic defects of the phalanges of the hand, Tooth malposition, Abnormal pinna morphology, Di...	OMIM:277150
Emanuel Syndrome	Dental crowding, Pulmonic stenosis, Aortic valve stenosis, Bifid uvula, Dysphagia, Hypogonadism, ...	ORPHA:96170
Spinal Dysplasia, Anhalt Type	Narrow anterio-posterior vertebral body diameter, Coxa vara, Thoracolumbar scoliosis, Thoracic he...	OMIM:601344
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly	Short ribs, Femoral bowing, Short long bone, Absent tibia, Intestinal malrotation, Thoracic hypop...	OMIM:613091
Leukodystrophy, Hypomyelinating, 26, With Chondrodysplasia	Retrognathia, Small epiphyses, Scoliosis, Short long bone, Knee dislocation, Glossoptosis, Lumbar...	OMIM:620269
Oculofaciocardiodental Syndrome	Solitary median maxillary central incisor, Bifid nasal tip, Intestinal malrotation, Flexion contr...	ORPHA:2712
Craniosynostosis, Herrmann-Opitz Type	Short nose, Craniosynostosis, Finger syndactyly, Abnormal antihelix morphology, Microtia, Split h...	ORPHA:2145
Craniofacial Microsomia 2	Microtia, Microtia, third degree, Dermal sinus tract, Microtia, second degree, Submucous cleft pa...	OMIM:620444
Seckel Syndrome 9	Recurrent respiratory infections, Pulmonary artery hypoplasia, Micrognathia, Convex nasal ridge, ...	OMIM:616777
Müllerian Duct Anomalies-Limb Anomalies Syndrome	Abnormality of the wrist, Hypoplasia of penis, Split hand, Postaxial hand polydactyly, Micromelia...	ORPHA:2491
Cataract-Intellectual Disability-Anal Atresia-Urinary Defects Syndrome	Genu valgum, Hypospadias, Hypoplasia of penis, Anal atresia, Cryptorchidism	ORPHA:1381
Chromosome 1Q41-Q42 Deletion Syndrome	Widely spaced teeth, Short philtrum, Sandal gap, Anteverted nares, High palate, Pectus excavatum,...	OMIM:612530
Thymic-Renal-Anal-Lung Dysplasia	Anal atresia, Ureteral agenesis, Ureteral dysgenesis	OMIM:274265
Microgastria-Limb Reduction Defect Syndrome	Abnormal finger morphology, Amelia, Oligodactyly, Tracheoesophageal fistula, Intestinal malrotati...	ORPHA:2538
Alagille Syndrome	Hypoplasia of the ulna, Long nose, Protruding ear, Clinodactyly of the 5th finger, Spina bifida o...	ORPHA:52
Syndactyly Type 2	Clinodactyly of the 5th finger, Abnormal metacarpal morphology, Sandal gap, Mesoaxial polydactyly...	ORPHA:93403
Prune Belly Syndrome	Decreased fertility, Hydroureter, Renal insufficiency, Vesicoureteral reflux, Urogenital sinus an...	ORPHA:2970
Pulmonary Atresia With Intact Ventricular Septum	Hypoplastic right heart, Pulmonary artery atresia	OMIM:265150
Skeletal Defects, Genital Hypoplasia, And Impaired Intellectual Development	Hypoplasia of the ulna, Thin vermilion border, Fibular hypoplasia, Short tibia, Narrow mouth, Del...	OMIM:612447
Spondyloepiphyseal Dysplasia With Congenital Joint Dislocations	Kyphoscoliosis, Bilateral single transverse palmar creases, Multiple carpal ossification centers,...	OMIM:143095
Lethal Faciocardiomelic Dysplasia	Hypoplasia of the ulna, Hypoplasia of the radius, Fibular hypoplasia, Bilateral single transverse...	ORPHA:1972
Acrofacial Dysostosis, Rodríguez Type	Fibular hypoplasia, Abnormal form of the vertebral bodies, Finger syndactyly, Microtia, Abnormal ...	ORPHA:1788
Non-Distal Duplication 10Q	Short nose, Low-set, posteriorly rotated ears, Scoliosis, High palate, Pectus excavatum, Everted ...	ORPHA:1695
Pierre Robin Syndrome	Glossoptosis, Micrognathia, Pierre-Robin sequence, Cleft palate, Cor pulmonale	OMIM:261800
Cousin Syndrome	Ambiguous genitalia, male, Dislocated radial head, Hypoplastic iliac wing, Wrist flexion contract...	OMIM:260660
Desbuquois Dysplasia 1	Sandal gap, Hyperlordosis, Flat acetabular roof, Kyphosis, Broad femoral neck, Bifid distal phala...	OMIM:251450
Kniest Dysplasia	Enlarged metaphyses, Short long bone, Dumbbell-shaped long bone, Joint stiffness, Flexion contrac...	ORPHA:485
Ganglioneuroma	Gastrointestinal hemorrhage, Colorectal polyposis, Multiple intestinal neurofibromatosis, Abnorma...	ORPHA:251992
Multiple Pterygium Syndrome, X-Linked	Short finger, Multiple pterygia, Joint dislocation, Thin ribs, Low-set ears, Depressed nasal ridg...	OMIM:312150
Larsen-Like Osseous Dysplasia-Short Stature Syndrome	Abnormal metaphysis morphology, Short nose, Thin vermilion border, Reduced bone mineral density, ...	ORPHA:2370
Achondrogenesis, Type Ia	Hypoplastic sacrum, Abnormal foot bone ossification, Broad clavicles, Abnormal hand bone ossifica...	OMIM:200600
Ivic Syndrome	Limited elbow movement, Intestinal malrotation, Absent thumb, Hypoplasia of the ulna, Hypoplasia ...	OMIM:147750
Codas Syndrome	Proximal placement of thumb, Sensorineural hearing impairment, Delayed ossification of carpal bon...	OMIM:600373
Polydactyly, Preaxial Ii	Opposable triphalangeal thumb, Postaxial hand polydactyly, Duplication of phalanx of hallux, Dupl...	OMIM:174500
Short Stature-Wormian Bones-Dextrocardia Syndrome	High palate, Anal atresia, Camptodactyly of finger, Midshaft hypospadias, Micrognathia, Brachydac...	ORPHA:2863
Richieri Costa-Da Silva Syndrome	Kyphoscoliosis, Beaking of vertebral bodies, Distal lower limb muscle weakness, Genu valgum, Gene...	ORPHA:3101
Distal 22Q11.2 Microdeletion Syndrome	Sandal gap, Arachnodactyly, Short distal phalanx of finger, Coxa valga, Truncus arteriosus, Choan...	ORPHA:261330
Cat-Eye Syndrome (Type I)	Micrognathia, Anal atresia	DECIPHER:42
Metaphyseal Chondrodysplasia, Schmid Type	Short tubular bones of the hand, Distal femoral metaphyseal irregularity, Femoral bowing, Short l...	ORPHA:174
Hirschsprung Disease With Hypoplastic Nails And Dysmorphic Facial Features	Hydronephrosis, Aganglionic megacolon, Anal atresia	OMIM:235760
Teebi Hypertelorism Syndrome 1	Short nose, Aortic root aneurysm, Dental crowding, Anteverted nares, Hydrocele testis, Micrognath...	OMIM:145420
Xk Aprosencephaly Syndrome	Abnormal external genitalia, Abnormal morphology of the radius, Anal atresia	ORPHA:3469
Contractures-Developmental Delay-Pierre Robin Syndrome	Abnormal finger morphology, Microtia, Glossoptosis, Wrist flexion contracture, Arachnodactyly, Lo...	ORPHA:436003
Squamous Cell Carcinoma Of The Anal Canal	Rectal prolapse, Anal stenosis, Anal canal squamous cell carcinoma, Neoplasm of the rectum, Intes...	ORPHA:424019
Hoxha-Aliu Syndrome	Contracture of the proximal interphalangeal joint of the 4th finger, Absent fifth metatarsal, Pec...	OMIM:620662
Brachydactyly-Mesomelia-Intellectual Disability-Heart Defects Syndrome	Abnormal palate morphology, Abnormal shoulder morphology, Tooth agenesis, Abnormal mitral valve m...	ORPHA:1277
Dyssegmental Dysplasia, Silverman-Handmaker Type	Miscarriage, Short ribs, Short long bone, Hypoplastic ischia, Encephalocele, Pterygium, Anisospon...	ORPHA:1865
Split hand/foot malformation 1 (SHFM1)	2-3 toe syndactyly, Split hand, Split foot, Cutaneous finger syndactyly, Cleft palate, Toe syndac...	DECIPHER:46
Isolated Klippel-Feil Syndrome	Abnormal shoulder morphology, Cervical C2/C3 vertebral fusion, Abnormality of the vertebral colum...	ORPHA:2345
Primary Ciliary Dyskinesia	Abnormal atrial arrangement, Clubbing, Abnormal inferior vena cava morphology, Intestinal malrota...	ORPHA:244
Diaphanospondylodysostosis	Absent or minimally ossified vertebral bodies, Short thorax, Enlarged thorax, Missing ribs, Myelo...	ORPHA:66637
Ritscher-Schinzel Syndrome 3	Hypoplasia of the ulna, Short first metatarsal, Ulnar bowing, Epiphyseal stippling, Anteverted na...	OMIM:619135
Kbg Syndrome	Radial deviation of finger, Ulnar deviation of the 2nd finger, Delayed skeletal maturation, Synda...	OMIM:148050
Femur-Fibula-Ulna Complex	Abnormal femur morphology, Finger syndactyly, Split hand, Micromelia, Humeroradial synostosis, Sh...	ORPHA:2019
Poland Syndrome	Hypoplasia of deltoid muscle, Short ribs, Hemivertebrae, Unilateral oligodactyly, Sprengel anomal...	OMIM:173800
Duane-Radial Ray Syndrome	Pectoralis hypoplasia, Sandal gap, Sensorineural hearing impairment, Short humerus, Absent thumb,...	OMIM:607323
Symphalangism With Multiple Anomalies Of Hands And Feet	Finger symphalangism, Reduced proximal interphalangeal joint space, Short distal phalanx of hallu...	ORPHA:3246
Keutel Syndrome	Cartilaginous ossification of nose, Emphysema, Premature fusion of phalangeal epiphyses, Short ha...	OMIM:245150
Aminopterin/Methotrexate Embryofetopathy	Situs inversus totalis, Aplasia/Hypoplasia of the thumb, Finger syndactyly, Non-midline cleft of ...	ORPHA:1908
Heart-Hand Syndrome Type 2	Asymmetry of the thorax, Joint stiffness, Abnormal clavicle morphology, Short 4th metacarpal, Abn...	ORPHA:1350
Vacterl Association, X-Linked, With Or Without Hydrocephalus	Sacral dimple, Abnormal vertebral morphology, Proximal placement of thumb, Esophageal atresia, Ab...	OMIM:314390
Intellectual Disability-Polydactyly-Uncombable Hair Syndrome	Hypoplasia of penis, Pectus carinatum, Kyphosis, Abnormal epiphysis morphology, Aplasia/Hypoplasi...	ORPHA:3082
Fetal Akinesia Deformation Sequence 4	Rocker bottom foot, Retrognathia, 11 pairs of ribs, High palate, Low-set ears, Camptodactyly, Kyp...	OMIM:618393
Robinow Syndrome, Autosomal Dominant 3	Agenesis of permanent teeth, Broad thumb, Mesomelia, Syndactyly, Long philtrum, Hypoplastic right...	OMIM:616894
Chondrodysplasia With Joint Dislocations, Gpapp Type	Irregular epiphyses of the metacarpals, Short long bone, Short metacarpal, Patellar dislocation, ...	OMIM:614078
Thrombocytopenia-Absent Radius Syndrome	Meckel diverticulum, Aplasia of the uterus, Femoral bowing, Death in infancy, Broad thumb, Bilate...	OMIM:274000
Larsen Syndrome	Spondylolysis, Multiple carpal ossification centers, Pectus carinatum, Short metacarpal, Pectus e...	OMIM:150250
Arthrogryposis Multiplex Congenita 1, Neurogenic, With Myelin Defect	Retrognathia, Dental crowding, Elbow flexion contracture, High palate, Internally rotated shoulde...	OMIM:617468
Pierpont Syndrome	Prominent fingertip pads, Everted lower lip vermilion, Broad philtrum, Joint hypermobility, Abnor...	ORPHA:487825
Anus, Imperforate	Anal atresia	OMIM:207500
Diaphragmatic Defects, Limb Deficiencies, And Ossification Defects Of Skull	Clinodactyly of the 5th finger, Anteverted nares, Amelia, Intestinal malrotation, Pulmonary hypop...	OMIM:601163
Renal Tubular Dysgenesis	Bilateral single transverse palmar creases, Proximal tubulopathy, Pulmonary hypoplasia, Tetralogy...	ORPHA:3033
Hajdu-Cheney Syndrome	Partial absence of toe, Pectus carinatum, Decreased skull ossification, Kyphosis, Biconcave verte...	ORPHA:955
Craniofacial Dysmorphism, Skeletal Anomalies, And Impaired Intellectual Development Syndrome 1	Pectus excavatum, Recurrent sinusitis, Joint hypermobility, Craniosynostosis, Overlapping toe, Sa...	OMIM:213980
Recombinant 8 Syndrome	Bilateral single transverse palmar creases, Pectus excavatum, Abnormal oral frenulum morphology, ...	ORPHA:96167
Weyers Ulnar Ray/Oligodactyly Syndrome	Hypoplasia of the radius, Proximal radial head dislocation, Solitary median maxillary central inc...	OMIM:602418
Gillessen-Kaesbach-Nishimura Syndrome	Abnormal lung lobation, Retrognathia, Narrow greater sciatic notch, Polycystic kidney dysplasia, ...	OMIM:263210
Syndactyly, Type Iii	4-5 finger syndactyly, Absent middle phalanx of 5th finger, Toe syndactyly, Short 5th finger, 3-4...	OMIM:186100
Zechi-Ceide Syndrome	Short metatarsal, Sandal gap, Wide nose, Oligodontia, Cleft upper lip, Cleft palate, Malar flatte...	OMIM:612916
Czeizel-Losonci Syndrome	Dextrocardia, Congenital megaureter, Hitchhiker thumb, Single transverse palmar crease, Hypoplast...	ORPHA:2437
Spondylometaphyseal Dysplasia With Corneal Dystrophy	Beaking of vertebral bodies, Short nose, Death in childhood, Lumbar platyspondyly, Narrow chest, ...	OMIM:618961
Ulna Hypoplasia-Intellectual Disability Syndrome	Hypoplasia of the ulna, Hypoplasia of the radius, Talipes, Delayed cranial suture closure, Microm...	ORPHA:2249
Appendicitis, Proneness To	Abnormal large intestine morphology	OMIM:107700
Phocomelia, Schinzel Type	Hypoplasia of penis, Aplasia of the uterus, Aplasia/Hypoplasia involving the pelvis, Tracheoesoph...	ORPHA:2879
Hyperekplexia 4	Kyphoscoliosis, High palate, Camptodactyly, Respiratory failure, Flexion contracture, Distal arth...	OMIM:618011
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 3	Unilateral renal agenesis, Anomalous origin of left coronary artery from the pulmonary artery, Sh...	OMIM:618845
Congenital Unilateral Hypoplasia Of Depressor Anguli Oris	Abnormal hip bone morphology, Abnormal lower lip morphology, Vesicoureteral reflux, Abnormal aort...	ORPHA:1166
Alar Cartilages Hypoplasia-Coloboma-Telecanthus Syndrome	Cleft ala nasi, Non-midline cleft of the upper lip, Convex nasal ridge, Wide nasal bridge, Underd...	ORPHA:2007
Acromicric Dysplasia	Short nose, Long philtrum, Abnormal femur morphology, Thick lower lip vermilion, Anteverted nares...	ORPHA:969
Mental Retardation Syndrome, Mietens-Weber Type	Dislocated radial head, Elbow flexion contracture, Forearm undergrowth, Absent proximal radial ep...	OMIM:249600
Distal Deletion 10P	Bilateral single transverse palmar creases, Clinodactyly of the 5th finger, Hypoplasia of penis, ...	ORPHA:1580
Acromesomelic Dysplasia, Maroteaux Type	Beaking of vertebral bodies, Abnormal form of the vertebral bodies, Vertebral wedging, Scoliosis,...	ORPHA:40
Acromesomelic Dysplasia 2C	Hypoplasia of the ulna, Hypoplasia of the radius, Fibular hypoplasia, Abnormally shaped carpal bo...	OMIM:201250
Orofaciodigital Syndrome Type 5	Abnormal oral frenulum morphology, Bifid uvula, Accessory oral frenulum, Aganglionic megacolon, A...	ORPHA:2919
Tricuspid Atresia	Hypoplasia of right ventricle, Transposition of the great arteries, Tricuspid atresia, Patent for...	ORPHA:1209
Palmoplantar Keratoderma-Esophageal Carcinoma Syndrome	Esophageal neoplasm, Gastrointestinal hemorrhage, Hepatomegaly, Abnormal esophagus physiology, Ga...	ORPHA:2198
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 3	Osteopenia, Short nose, Hypoplasia of the ulna, Lambdoidal craniosynostosis, Anteverted nares, Sc...	OMIM:615398
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly	Lateral clavicle hook, Hypoplasia of the radius, Narrow chest, Short ribs, Low-set ears, Hypoplas...	OMIM:617895
Baller-Gerold Syndrome	Limited elbow movement, Mixed hearing impairment, Carpal bone aplasia, Oligodactyly, Short humeru...	OMIM:218600
Platyspondylic Lethal Skeletal Dysplasia, Torrance Type	Short ribs, Flat acetabular roof, Short long bone, Dumbbell-shaped long bone, Hypoplastic ischia,...	OMIM:151210
Juberg-Hayward Syndrome	Hypoplasia of the radius, Orofacial cleft, Abnormality of the wrist, Abnormal vertebral morpholog...	ORPHA:2319
Thrombocytopenia-Absent Radius Syndrome	Sensorineural hearing impairment, Aplasia of the uterus, Broad thumb, Aplasia/hypoplasia of the h...	ORPHA:3320
Distal Duplication 5Q	Hypoplasia of the ulna, Short nose, Hypoplasia of the radius, Thin vermilion border, Hypospadias,...	ORPHA:96097
Congenital Hemidysplasia With Ichthyosiform Erythroderma And Limb Defects	Absent toe, Short ribs, Hypoplastic pelvis, Syndactyly, Umbilical hernia, Scoliosis, 4-5 toe synd...	OMIM:308050
Postaxial Acrofacial Dysostosis	Hypoplasia of the ulna, Hypoplasia of the radius, Low-set, posteriorly rotated ears, Finger synda...	ORPHA:246
Spondylocostal Dysostosis 4, Autosomal Recessive	Abnormal odontoid process morphology, Anal stenosis, Bell-shaped thorax, Spina bifida occulta, Sh...	OMIM:613686
Digital Arthropathy-Brachydactyly, Familial	Radial deviation of finger, Brachytelomesophalangy, Arthropathy, Short distal phalanx of toe, Sho...	OMIM:606835
Multiple Pterygium Syndrome, Lethal Type	Short finger, Multiple pterygia, Joint dislocation, Thin ribs, Low-set ears, Depressed nasal ridg...	OMIM:253290
Orofaciodigital Syndrome Ii	Bifid nasal tip, Pectus excavatum, Syndactyly, Metaphyseal irregularity, Accessory oral frenulum,...	OMIM:252100
Axin2-Related Attenuated Familial Adenomatous Polyposis	Adenomatous colonic polyposis, Colon cancer, Neoplasm of the rectum, Colorectal polyposis	ORPHA:401911
Spondyloepimetaphyseal Dysplasia, Faden-Alkuraya Type	Microtia, Femoral bowing, Short metacarpal, Delayed skeletal maturation, Craniosynostosis, Overla...	OMIM:616723
Omodysplasia 1	Limited knee extension, Short humerus, Umbilical hernia, Long philtrum, Axillary pterygium, Fibul...	OMIM:258315
Tetraamelia-Multiple Malformations Syndrome	Abnormal lung lobation, Orofacial cleft, Microtia, Aplasia/Hypoplasia of the lungs, Abnormally os...	ORPHA:3301
Intellectual Disability-Balding-Patella Luxation-Acromicria Syndrome	Kyphoscoliosis, Acromesomelia, Everted lower lip vermilion, Hypogonadism, Lumbar kyphosis in infa...	ORPHA:3041
Gm1-Gangliosidosis, Type I	Beaking of vertebral bodies, Scoliosis, Gingival overgrowth, Kyphosis, Depressed nasal ridge, Joi...	OMIM:230500
Ullrich Congenital Muscular Dystrophy	Abnormal palate morphology, Spinal rigidity, Adducted thumb, Pes valgus, Scoliosis, Elbow flexion...	ORPHA:75840
Tetralogy Of Fallot	Thin vermilion border, Clinodactyly of the 5th finger, Abnormal nasal morphology, Tetralogy of Fa...	ORPHA:3303
Hyperphosphatasia With Impaired Intellectual Development Syndrome 6	Osteopenia, Thickened ears, Adducted thumb, Death in childhood, Clinodactyly of the 5th finger, A...	OMIM:616809
Maxillonasal Dysplasia, Binder Type	Short nose, Patchy distortion of vertebrae, Vertebral clefting, Short distal phalanx of finger, D...	OMIM:155050
Melnick-Needles Syndrome	Kyphoscoliosis, Cone-shaped epiphyses of the phalanges of the hand, Tibial bowing, Pectus excavat...	OMIM:309350
Renal-Hepatic-Pancreatic Dysplasia 2	Abnormal lung lobation, Situs inversus totalis, Enlarged kidney, Talipes equinovarus, Truncus art...	OMIM:615415
Intellectual Developmental Disorder, Autosomal Dominant 1	Retrognathia, Sandal gap, Microtia, Everted lower lip vermilion, Microdontia, Wide mouth, Short t...	OMIM:156200
Maternal Phenylketonuria	Deviated nasal septum, Esophageal atresia, Anteverted nares, High palate, Coarctation of aorta, A...	ORPHA:2209
Multinucleated Neurons, Anhydramnios, Renal Dysplasia, Cerebellar Hypoplasia, And Hydranencephaly	Clinodactyly of the 5th finger, Single transverse palmar crease, 2-3 toe syndactyly, Narrow nasal...	OMIM:236500
Cerebrocostomandibular Syndrome	Anomalous rib insertion to vertebrae, Glossoptosis, Short humerus, Thoracic hypoplasia, Long phil...	OMIM:117650
Zechi-Ceide Syndrome	Thin vermilion border, Long foot, Short metatarsal, Sandal gap, Wide nose, Abnormal earlobe morph...	ORPHA:217017
Cardiac Diverticulum	Abnormal coronary artery origin, Aortic valve stenosis, Abnormal heart morphology, Aplasia/Hypopl...	ORPHA:1686
Developmental And Speech Delay Due To Sox5 Deficiency	Narrow palate, Butterfly vertebrae, Hyperplasia of the maxilla, Pectus carinatum, Scoliosis, Thor...	ORPHA:313892
Peutz-Jeghers Syndrome	Esophageal neoplasm, Intestinal obstruction, Rectal prolapse, Gastrointestinal hemorrhage, Gastro...	ORPHA:2869
Schneckenbecken Dysplasia	Snail-like ilia, Short ribs, Flat acetabular roof, Short long bone, Dumbbell-shaped long bone, Th...	OMIM:269250
Ohdo Syndrome, X-Linked	Microtia, Microdontia, Joint hypermobility, Overlapping toe, Small scrotum, Long philtrum, Clinod...	OMIM:300895
Nager Syndrome	Hypoplasia of the radius, Abnormal palate morphology, Triphalangeal thumb, Low-set, posteriorly r...	ORPHA:245
Campomelic Dysplasia	Kyphoscoliosis, Absent sternal ossification, Dislocated radial head, Tracheobronchomalacia, Hypop...	OMIM:114290
Otospondylomegaepiphyseal Dysplasia	Sandal gap, Sensorineural hearing impairment, Tibial bowing, Glossoptosis, Abnormally ossified ve...	ORPHA:1427
Odontochondrodysplasia 1	Biconvex vertebral bodies, Cone-shaped epiphyses of the phalanges of the hand, Pectus carinatum, ...	OMIM:184260
Congenital Heart Defects, Multiple Types, 9	Arteria lusoria, Transposition of the great arteries, Single ventricle of indeterminate morpholog...	OMIM:620294
Marden-Walker Syndrome	High, narrow palate, Dextrocardia, Hypospadias, Anteverted nares, Narrow mouth, High palate, Camp...	OMIM:248700
Angioosteohypotrophic Syndrome	Hypoplasia of the ulna, Hypoplasia of the radius, Abnormality of the hand, Abnormal foot morpholo...	ORPHA:75508
Yunis-Varon Syndrome	Bilateral single transverse palmar creases, Absent sternal ossification, Small earlobe, Microtia,...	OMIM:216340
Achondrogenesis Type 1A	Short nose, Narrow chest, Short thorax, Anteverted nares, Short foot, Abnormal enchondral ossific...	ORPHA:93299
Tarp Syndrome	Rocker bottom foot, Glossoptosis, Pectus excavatum, Abnormal duodenum morphology, Tongue nodules,...	ORPHA:2886
Fallot Complex With Severe Mental And Growth Retardation	Pulmonic stenosis, Double outlet right ventricle, Ventricular septal defect, Tetralogy of Fallot	OMIM:601127
Saethre-Chotzen Syndrome	Bilateral single transverse palmar creases, Abnormal form of the vertebral bodies, Sensorineural ...	ORPHA:794
Microcephalic Osteodysplastic Primordial Dwarfism, Type Ii	Retrognathia, Hypoplastic iliac wing, Microtia, Tibial bowing, Microdontia, Delayed skeletal matu...	OMIM:210720
Wolf-Hirschhorn Syndrome	Chronic otitis media, Hypoplastic pubic ramus, Abnormal form of the vertebral bodies, Microtia, K...	ORPHA:280
Odontochondrodysplasia	Abnormal metaphysis morphology, Short nose, Square pelvis bone, Retrognathia, Platyspondyly, Narr...	ORPHA:166272
Short Stature-Craniofacial Anomalies-Genital Hypoplasia Syndrome	Triphalangeal thumb, Low-set, posteriorly rotated ears, Finger syndactyly, Ectopic anus, Microtia...	ORPHA:2994
Pulmonary Atresia With Ventricular Septal Defect	Ventricular septal defect, Pulmonary artery atresia	OMIM:178370
Oculoauriculofrontonasal Syndrome	Wide nose, Encephalocele, Scoliosis, Bifid nasal tip, Microtia, Narrow mouth, Conductive hearing ...	ORPHA:398156
Intellectual Disability-Facial Dysmorphism-Hand Anomalies Syndrome	Recurrent otitis media, Cervical C2/C3 vertebral fusion, Osseous finger syndactyly, 3-4 finger cu...	ORPHA:370010
Van Maldergem Syndrome 2	Sensorineural hearing impairment, Microtia, Bifid scrotum, Joint hypermobility, Clinodactyly, Sho...	OMIM:615546
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome	Abnormal metaphysis morphology, Abnormal clavicle morphology, Rhizomelia, Proximal placement of t...	ORPHA:93267
Hypoglossia-Hypodactylia	Retrognathia, Adactyly, Split hand, Narrow mouth, Micrognathia, Microglossia, Aglossia	OMIM:103300
Brachydactyly, Type A2	Aplasia/Hypoplasia of the middle phalanx of the 2nd finger, Clinodactyly of the 5th finger, Short...	OMIM:112600
Autosomal Recessive Omodysplasia	Abnormal metaphysis morphology, Short nose, Abnormal femur morphology, Rhizomelia, Pterygium, Ant...	ORPHA:93329
Acromesomelic Dysplasia 3	Hypoplasia of the ulna, Fibular aplasia, Short finger, Tarsal synostosis, Radial deviation of fin...	OMIM:609441
Faciodigitogenital Syndrome, Autosomal Recessive	Microtia, Pectus excavatum, Wide mouth, Syndactyly, Narrow palate, Anteverted nares, Camptodactyl...	OMIM:227330
Meckel Syndrome, Type 8	Polydactyly, Short nose, Enlarged kidney, Polycystic kidney dysplasia, Depressed nasal ridge, Per...	OMIM:613885
Mosaic Trisomy 16	Meckel diverticulum, Abnormal heart morphology, Wide mouth, Syndactyly, Craniofacial asymmetry, C...	ORPHA:1708
Thomas Syndrome	Cleft upper lip, Cleft palate, Multicystic kidney dysplasia, Hypoplastic left heart	ORPHA:3316
Achondrogenesis Type 1B	Short nose, Narrow chest, Short thorax, Anteverted nares, Aplasia/Hypoplasia of the lungs, Abnorm...	ORPHA:93298
Acrocallosal Syndrome	Everted upper lip vermilion, Pulmonary valve defects, Abnormal oral frenulum morphology, Bifid uv...	OMIM:200990
Holoprosencephaly, Semilobar, With Craniosynostosis	Lambdoidal craniosynostosis, Coronal craniosynostosis, Hypoplastic vertebral bodies, Short distal...	OMIM:601370
Platyspondylic Dysplasia, Torrance Type	Abnormal carpal morphology, Metaphyseal cupping, Bowing of the long bones, Micromelia, Hypoplasti...	ORPHA:85166
Syndactyly Type 1	Toe syndactyly, 2-3 toe syndactyly, Symphalangism affecting the phalanges of the hand, 3-4 finger...	ORPHA:93402
Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly	Short ribs, Short long bone, Flat acetabular roof, Microdontia, Mesomelia, Syndactyly, Short dist...	OMIM:614091
Congenital Muscular Dystrophy With Intellectual Disability	Multiple joint contractures, Respiratory insufficiency, Scoliosis, Calf muscle hypertrophy, Neuro...	ORPHA:370968
Boomerang Dysplasia	Abnormal bone ossification, Abnormal femur morphology, Abnormal tibia morphology, Abnormal metaca...	ORPHA:1263
Distal Duplication 18Q	Bilateral single transverse palmar creases, Abnormal female external genitalia morphology, Hypopl...	ORPHA:1716
Primary Pulmonary Hypoplasia	Pneumothorax, Dextrocardia, Patellar hypoplasia, Ureteral stenosis, Micrognathia, Secundum atrial...	ORPHA:2257
Ulna And Fibula, Absence Of, With Severe Limb Deficiency	Aplasia/hypoplasia of the femur, Carpal bone aplasia, Aplasia/Hypoplasia of the phalanges of the ...	OMIM:276820
Spondylocarpotarsal Synostosis Syndrome	Mixed hearing impairment, Sensorineural hearing impairment, Pectus carinatum, Hyperlordosis, Shor...	OMIM:272460
Ankyloblepharon Filiforme Adnatum-Imperforate Anus Syndrome	Non-midline cleft of the upper lip, Cryptorchidism, Cleft palate, Tooth agenesis	ORPHA:1074
Ohdo Syndrome	Short nose, Long philtrum, Abnormal foot morphology, Clinodactyly of the 5th finger, Thin vermili...	OMIM:249620
Auricular Abnormalities-Cleft Lip With Or Without Cleft Palate-Ocular Abnormalities Syndrome	Orofacial cleft, Pectus excavatum, Depressed nasal ridge, Intestinal malrotation, Incomplete clef...	ORPHA:77300
Spondylocostal Dysostosis 2, Autosomal Recessive	Hemivertebrae, Vertebral segmentation defect, Vertebral clefting, Rib fusion, Short neck, Recurre...	OMIM:608681
Juberg-Hayward Syndrome	Limited elbow extension, Abnormal carpal morphology, Decreased response to growth hormone stimula...	OMIM:216100
Otopalatodigital Syndrome, Type I	Broad distal phalanx of finger, Sandal gap, Dislocated radial head, Femoral bowing, Pectus excava...	OMIM:311300
Chromosome 6Q11-Q14 Deletion Syndrome	Short nose, Pes cavus, Sacral dimple, Long philtrum, Single transverse palmar crease, High palate...	OMIM:613544
Pentalogy Of Cantrell	Orofacial cleft, Abnormal tibia morphology, Hypospadias, Non-midline cleft of the upper lip, Spli...	ORPHA:1335
Ring Chromosome 8 Syndrome	Abnormal palate morphology, Short nose, Anteverted nares, Abnormality of the ureter, Deviation of...	ORPHA:1450
Koolen-De Vries Syndrome	Pectus excavatum, Kyphosis, Everted lower lip vermilion, Microdontia, Arachnodactyly, Joint hyper...	ORPHA:96169
8P23.1 Duplication Syndrome	Wide nose, Pulmonic stenosis, Hydronephrosis, Tetralogy of Fallot, Thick vermilion border, Long p...	ORPHA:251076
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects	Multiple joint dislocation, Sandal gap, Enlarged metaphyses, Dislocated radial head, Pectus carin...	OMIM:245600
Osteodysplasty, Precocious, Of Danks, Mayne, And Kozlowski	Short finger, Abnormal long bone morphology, Abnormal pelvic girdle bone morphology, Short toe, R...	OMIM:259270
Axial Mesodermal Dysplasia Spectrum	Gingival overgrowth, Abnormal form of the vertebral bodies, Scoliosis, Vertebral segmentation def...	ORPHA:1834
Gorlin Syndrome	Ovarian fibroma, Arachnodactyly, Abnormality of the sense of smell, Palmar pits, Scoliosis, Hemiv...	ORPHA:377
Borjeson-Forssman-Lehmann Syndrome	Cervical spinal canal stenosis, Hypoplasia of the prostate, Shortening of all middle phalanges of...	OMIM:301900
Distal Duplication 15Q	Abnormal female external genitalia morphology, High palate, Anal atresia, Arachnodactyly, Camptod...	ORPHA:1707
Cardioacrofacial Dysplasia 1	Atrioventricular canal defect, Genu valgum, Short philtrum, Conical tooth, Hypoplasia of the maxi...	OMIM:619142
Genitopatellar Syndrome	Gastroesophageal reflux, Delayed eruption of teeth, Wide nose, Hypoplastic ilia, Hypoplastic isch...	ORPHA:85201
Schwartz-Jampel Syndrome, Type 1	Kyphoscoliosis, Flexion contracture of toe, Pectus carinatum, Wrist flexion contracture, Delayed ...	OMIM:255800
Pierre Robin Syndrome And Oligodactyly	Micrognathia, Cleft palate, Pierre-Robin sequence, Finger aplasia	OMIM:172880
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14	Kyphoscoliosis, Retrognathia, Small proximal tibial epiphyses, Broad distal phalanx of finger, Hy...	ORPHA:96334
Kagami-Ogata Syndrome	Retrognathia, Anteverted nares, Pulmonic stenosis, Hypoplasia of the maxilla, Micrognathia, Long ...	OMIM:608149
Congenital Heart Defects, Multiple Types, 8, With Or Without Heterotaxy	Bilateral single transverse palmar creases, Atrial septal defect, Partial anomalous pulmonary ven...	OMIM:619657
Congenital Heart Defects, Hamartomas Of Tongue, And Polysyndactyly	Orofacial cleft, 2-3 toe syndactyly, Postaxial hand polydactyly, Coarctation of aorta, Broad hall...	OMIM:217085
Visceral Myopathy 2	Intestinal obstruction, Rectal prolapse, Intestinal pseudo-obstruction, Gastroesophageal reflux, ...	OMIM:619350
Even-Plus Syndrome	Short nose, Microtia, Bifid nasal tip, High palate, Depressed nasal ridge, Vertebral clefting, Ep...	OMIM:616854
Lethal Hemolytic Anemia-Genital Anomalies Syndrome	Thin vermilion border, Anemia, Hypospadias, Sandal gap, Hypoplasia of penis, Narrow mouth, Depres...	ORPHA:1046
Seckel Syndrome 1	Clitoral hypertrophy, Sandal gap, Cone-shaped epiphyses of the phalanges of the hand, Dislocated ...	OMIM:210600
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked	Kyphoscoliosis, Radial deviation of finger, Sensorineural hearing impairment, Microtia, Kyphosis,...	OMIM:301040
Aarskog-Scott Syndrome	Delayed puberty, Radial deviation of finger, Pectus excavatum, Syndactyly, Broad philtrum, Elevat...	OMIM:305400
Greig Cephalopolysyndactyly Syndrome	1-3 toe syndactyly, Hypospadias, Y-shaped metatarsals, Postaxial hand polydactyly, Y-shaped metac...	OMIM:175700
Rhizomelic Chondrodysplasia Punctata, Type 3	Short femur, Short humerus, Rhizomelia, Epiphyseal stippling	OMIM:600121
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 1	Spondylolisthesis, Sandal gap, Dental crowding, Pectus excavatum, Everted lower lip vermilion, De...	OMIM:617877
Van Maldergem Syndrome 1	Sensorineural hearing impairment, Microtia, Joint hypermobility, Clinodactyly, Short 4th metacarp...	OMIM:601390
Spondyloepiphyseal Dysplasia-Craniosynostosis-Cleft Palate-Cataracts-Intellectual Disability Syndrome	Abnormality of cranial sutures, Abnormal bone ossification, Flat acetabular roof, Wide proximal f...	ORPHA:163649
Pde4D Haploinsufficiency Syndrome	Short metacarpal, Broad metatarsal, Accelerated skeletal maturation, Joint hypermobility, Long ph...	ORPHA:439822
Congenital Myopathy 10A, Severe Variant	Respiratory insufficiency, Tongue fasciculations, Scoliosis, High palate, Pectus excavatum, Campt...	OMIM:614399
Short-Rib Thoracic Dysplasia 21 Without Polydactyly	Long philtrum, Widely spaced teeth, Hypospadias, Narrow chest, Bowed humerus, Short lingual frenu...	OMIM:619479
Microcephaly-Cervical Spine Fusion Anomalies Syndrome	Abnormal clavicle morphology, Fused cervical vertebrae, Hypospadias, Abnormal hip bone morphology...	ORPHA:2522
19P13.3 Microduplication Syndrome	Kyphoscoliosis, Pes cavus, Hip subluxation, Short philtrum, Microtia, Low-set ears, Narrow mouth,...	ORPHA:447980
Atelosteogenesis Type Iii	Short tubular bones of the hand, Abnormal cervical curvature, Thoracic hypoplasia, Absent radius,...	ORPHA:56305
Spondylometaphyseal Dysplasia, Kozlowski Type	Short tubular bones of the hand, Short greater sciatic notch, Pectus carinatum, Flat acetabular r...	ORPHA:93314
Diabetic Embryopathy	Low-set, posteriorly rotated ears, Microtia, Vertebral segmentation defect, Cryptorchidism, Heari...	ORPHA:1926
Basal Cell Nevus Syndrome 1	Kyphoscoliosis, Ovarian fibroma, Hamartomatous stomach polyps, Short ribs, Abnormal sternum morph...	OMIM:109400
Chondrodysplasia Punctata, Tibia-Metacarpal Type	Short 4th metacarpal, Epiphyseal stippling, Short 2nd metacarpal, Short long bone, Depressed nasa...	OMIM:118651
Prune Belly Syndrome	Hydroureter, Talipes equinovarus, Anal atresia, Hydronephrosis, Congenital posterior urethral val...	OMIM:100100
Pericardial And Diaphragmatic Defect	Meckel diverticulum, Abnormal gastrointestinal tract morphology, Pulmonary sequestration, Pectus ...	ORPHA:2847
Short-Rib Thoracic Dysplasia 20 With Polydactyly	Narrow greater sciatic notch, Abnormal pinna morphology, Short ribs, Short long bone, Microtia, S...	OMIM:617925
Oculomaxillofacial Dysostosis	Tessier cleft, Abnormality of the nose, Underdeveloped nasal alae, Abnormality of the dentition, ...	ORPHA:1794
8P23.1 Microdeletion Syndrome	Proximal placement of thumb, Broad thumb, Abnormal cardiac septum morphology, Transposition of th...	ORPHA:251071
Temtamy Preaxial Brachydactyly Syndrome	Synostosis of carpals/tarsals, Radial deviation of finger, Clinodactyly of the 2nd finger, Microd...	ORPHA:363417
Gurrieri Syndrome	Hypoplastic acetabulae, Delayed skeletal maturation, Decreased anterioposterior diameter of lumba...	OMIM:601187
Contractures, Pterygia, And Spondylocarpotarsal Fusion Syndrome 1A	Spondylolisthesis, Pectus carinatum, Craniosynostosis, Cervical spinal canal stenosis, Tarsal syn...	OMIM:178110
20Q11.2 Microduplication Syndrome	Retrognathia, Pectus carinatum, Microtia, Bifid scrotum, Pectus excavatum, Abnormal oral frenulum...	ORPHA:363659
Kyphomelic Dysplasia	Abnormal metaphysis morphology, Lateral clavicle hook, Narrow chest, Abnormal form of the vertebr...	ORPHA:1801
Dyssegmental Dysplasia, Silverman-Handmaker Type	Occipital encephalocele, Pterygium, Respiratory insufficiency, Short long bone, Narrow mouth, Bow...	OMIM:224410
Hydrops Fetalis, Nonimmune, With Gracile Bones And Dysmorphism	Upper limb undergrowth, Anteverted nares, Adrenal hypoplasia, Pulmonary hypoplasia	OMIM:613124
Arthrogryposis, Distal, Type 1C	Rocker bottom foot, Thin vermilion border, Retrognathia, Clinodactyly of the 5th finger, Shoulder...	OMIM:619110
Kapur-Toriello Syndrome	Bilateral single transverse palmar creases, Clinodactyly of the 5th toe, Low hanging columella, S...	OMIM:244300
Hyperphosphatasia With Impaired Intellectual Development Syndrome 1	Short nose, Aganglionic megacolon, Short philtrum, Mandibular prognathia, Delayed ossification of...	OMIM:239300
Agnathia-Otocephaly Complex	Situs inversus totalis, Wide nose, Narrow mouth, Mandibular aplasia, Micrognathia, Secundum atria...	OMIM:202650
Baraitser-Winter Syndrome 1	Orofacial cleft, Bicuspid aortic valve, Retrognathia, Short nose, Anteverted nares, Aortic valve ...	OMIM:243310
Cutis Laxa, Autosomal Recessive, Type Ic	Retrognathia, Sandal gap, Long philtrum, Multiple bladder diverticula, Accessory spleen, Patent f...	OMIM:613177
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2B, Prenatal Onset, Autosomal Dominant	Femur fracture, Sacral dimple, Spina bifida occulta, Single transverse palmar crease, Scoliosis, ...	OMIM:618291
Immunodeficiency 90 With Encephalopathy, Functional Hyposplenia, And Hepatic Dysfunction	Ventricular septal defect, Left superior vena cava draining directly to the left atrium, Pulmonar...	OMIM:613759
Intellectual Disability-Spasticity-Ectrodactyly Syndrome	Bilateral single transverse palmar creases, Clinodactyly of the 5th finger, Abnormal hip bone mor...	ORPHA:1891
Radial Aplasia, X-Linked	Absent radius, Penile hypospadias, Anal atresia	OMIM:312190
Cranioectodermal Dysplasia 1	Radial deviation of finger, Short ribs, Pectus excavatum, Everted lower lip vermilion, Microdonti...	OMIM:218330
Robinow Syndrome, Autosomal Dominant 2	Kyphoscoliosis, Mixed hearing impairment, Sensorineural hearing impairment, Dental crowding, Broa...	OMIM:616331
Fetal Trimethadione Syndrome	Bilateral single transverse palmar creases, Short nose, Transposition of the great arteries, Hypo...	ORPHA:1913
Lateral Meningocele Syndrome	Dental crowding, Pectus excavatum, Kyphosis, Biconcave vertebral bodies, Short nasal bridge, Umbi...	OMIM:130720
Early-Onset Seizures-Distal Limb Anomalies-Facial Dysmorphism-Global Developmental Delay Syndrome	Retrognathia, Broad thumb, Arachnodactyly, Long philtrum, Overlapping toe, Sacral dimple, Scolios...	ORPHA:505237
Intellectual Developmental Disorder With Speech Delay And Dysmorphic Facies	Rocker bottom foot, Short nose, Clinodactyly of the 5th finger, Anteverted nares, Exaggerated cup...	OMIM:618506
X-Linked Skeletal Dysplasia-Intellectual Disability Syndrome	Brachydactyly, Short middle phalanx of finger, Anal atresia	ORPHA:1436
Microcephalic Osteodysplastic Primordial Dwarfism, Type I	Enlarged metaphyses, Microtia, Femoral bowing, Bifid first metacarpal, Short metacarpal, Death in...	OMIM:210710
Distal Deletion 9P	Short nose, High, narrow palate, Hypospadias, Low-set, posteriorly rotated ears, Aplasia/Hypoplas...	ORPHA:1642
Conductive Deafness-Malformed External Ear Syndrome	Stenosis of the external auditory canal, Abnormal pinna morphology, Sensorineural hearing impairm...	ORPHA:3216
Mietens Syndrome	Hypoplasia of the ulna, Short nose, Hypoplasia of the radius, Abnormal fibula morphology, Clinoda...	ORPHA:2557
Achondrogenesis	Short nose, Narrow chest, Short thorax, Abnormality of bone mineral density, Anteverted nares, Ab...	ORPHA:932
Reducing Body Myopathy, X-Linked 1A, Severe, With Infantile Or Early Childhood Onset	Spinal rigidity, Scoliosis, Death in adolescence, Respiratory insufficiency due to muscle weaknes...	OMIM:300717
Heterotaxy, Visceral, 4, Autosomal	Atrioventricular canal defect, Transposition of the great arteries, Dextrocardia, Right aortic ar...	OMIM:613751
Congenital Heart Defects, Multiple Types, 6	Transposition of the great arteries, Hypoplastic pulmonary veins, Right aortic arch, Pulmonary ar...	OMIM:613854
Velocardiofacial Syndrome	Retrognathia, Right aortic arch with mirror image branching, Abnormality of the hand, Hypoparathy...	OMIM:192430
Absent Radius-Anogenital Anomalies Syndrome	Hypoplasia of the radius, Rectovaginal fistula, Perineal fistula, Oligodactyly, Ectrodactyly, Ana...	ORPHA:3016
Ruvalcaba Syndrome	Limited elbow extension, Short metatarsal, Narrow chest, Dental crowding, Scoliosis, Short metaca...	OMIM:180870
Distal Deletion 15Q	Abnormal aortic arch morphology, Double outlet right ventricle with doubly committed ventricular ...	ORPHA:1596
Cantu Syndrome	Delayed skeletal maturation, Erlenmeyer flask deformity of the femurs, Umbilical hernia, Long phi...	OMIM:239850
Microphthalmia With Limb Anomalies	Bilateral single transverse palmar creases, Sandal gap, Abnormal form of the vertebral bodies, Ab...	ORPHA:1106
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome	Pectus excavatum, Broad thumb, Bicuspid aortic valve, Long philtrum, Short 5th finger, Overlappin...	ORPHA:508498
Progressive Spondyloepimetaphyseal Dysplasia-Short Stature-Short Fourth Metatarsals-Intellectual Disability Syndrome	Kyphoscoliosis, Rocker bottom foot, Abnormal hip bone morphology, Abnormal sternum morphology, Hy...	ORPHA:457395
Fraser Syndrome	Hypoplasia of penis, Abnormal vagina morphology, Dental crowding, Abnormal pinna morphology, Micr...	ORPHA:2052
Hemifacial Atrophy, Progressive	Short mandibular rami, Delayed eruption of teeth, Microtia, Kyphosis, Dental malocclusion, Tongue...	OMIM:141300
Endosteal Hyperostosis, Worth Type	Diaphyseal undertubulation, Clavicular sclerosis, Sclerotic vertebral body, Abnormal cortical bon...	ORPHA:2790
Myhre Syndrome	Radial deviation of finger, Hypoplastic iliac wing, Microtia, Short long bone, Joint stiffness, O...	OMIM:139210
Microphthalmia, Syndromic 8	Orofacial cleft, Mandibular prognathia, Split foot, Cleft upper lip, Cleft palate, Cryptorchidism...	OMIM:601349
Ciliary Dyskinesia, Primary, 39	Double outlet right ventricle, Recurrent lower respiratory tract infections, Dextrocardia, Bronch...	OMIM:618254
Sweeney-Cox Syndrome	Microtia, Short distal phalanx of finger, Short philtrum, Choanal atresia, Hearing impairment, Br...	OMIM:617746
Periventricular Nodular Heterotopia 7	Short nose, 1-4 toe syndactyly, Clinodactyly of the 5th finger, Dental crowding, 2-3 toe syndacty...	OMIM:617201
Microcephaly-Micromelia Syndrome	Craniosynostosis, Wide nose, Narrow chest, Oligodactyly, Low-set ears, Narrow mouth, Missing ribs...	OMIM:251230
Cataract-Intellectual Disability-Hypogonadism Syndrome	Abnormality of the hand, Low-set, posteriorly rotated ears, Short philtrum, Tooth malposition, Ab...	ORPHA:1387
Neurodevelopmental Disorder With Growth Retardation, Dysmorphic Facies, And Corpus Callosum Abnormalities	Retrognathia, Clinodactyly of the 5th toe, Long nose, Clinodactyly of the 5th finger, Proximal pl...	OMIM:620113
Fg Syndrome Type 1	Clinodactyly of the 2nd finger, Sensorineural hearing impairment, Microtia, Abnormal sternum morp...	ORPHA:93932
Ulnar Hypoplasia With Mental Retardation	Talipes equinovarus, Limited elbow movement, Limitation of knee mobility, Bilateral ulnar hypoplasia	OMIM:276821
3C Syndrome	Abnormal hip bone morphology, Hypoplasia of penis, Pulmonic stenosis, Abnormal mitral valve morph...	ORPHA:7
Spondylocostal Dysostosis 5	Butterfly vertebrae, Pectus carinatum, Scoliosis, Hemivertebrae, Missing ribs, Supernumerary ribs...	OMIM:122600
Oculoauriculovertebral Spectrum With Radial Defects	Short mandibular rami, Orofacial cleft, Atrioventricular canal defect, Triphalangeal thumb, Mater...	ORPHA:2549
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly	Narrow greater sciatic notch, Short ribs, Short long bone, Flat acetabular roof, Hypoplastic pelv...	OMIM:616300
Tetraamelia Syndrome 2	Bilateral lung agenesis, Hypoplastic pulmonary veins, Amelia, Glossoptosis, Absent nipple, Ankylo...	OMIM:618021
Fibular Hemimelia	Abnormal bone ossification, Proximal femoral focal deficiency, Abnormal lower limb bone morpholog...	ORPHA:93323
Focal Facial Dermal Dysplasia 3, Setleis Type	Anal atresia	OMIM:227260
Mesomelia-Synostoses Syndrome	Abnormal femur morphology, Joint stiffness, Abnormal oral frenulum morphology, Mesomelia, Umbilic...	ORPHA:2496
Frontometaphyseal Dysplasia 1	Limited elbow movement, Cervical C2/C3 vertebral fusion, Dislocated radial head, Sensorineural he...	OMIM:305620
Robinow Syndrome, Autosomal Recessive 2	Bicuspid aortic valve, Short nose, Cleft soft palate, Triangular mouth, Sandal gap, Anteverted na...	OMIM:618529
Otopalatodigital Syndrome, Type Ii	Kyphoscoliosis, Rocker bottom foot, Spondylolysis, Short ribs, Femoral bowing, Short metacarpal, ...	OMIM:304120
Holoprosencephaly-Craniosynostosis Syndrome	Clinodactyly of the 5th finger, Delayed skeletal maturation, Hypoplastic vertebral bodies, Brachy...	ORPHA:2163
Gordon Syndrome	Clinodactyly of the 5th finger, Finger syndactyly, High palate, Pectus excavatum, Camptodactyly o...	ORPHA:376
Radio-Renal Syndrome	Hypoplasia of the radius, High, narrow palate, Retrognathia, Abnormal form of the vertebral bodie...	ORPHA:3015
Cog1-Cdg	Kyphoscoliosis, Microtia, Short long bone, Flat acetabular roof, Long philtrum, Coxa valga, Butte...	ORPHA:263508
Gastrointestinal Defects And Immunodeficiency Syndrome 1	Ileal atresia, Intestinal obstruction, Autoimmune hemolytic anemia, Impaired lymphocyte transform...	OMIM:243150
Non-Syndromic Posterior Hypospadias	Esophageal atresia, Bifid scrotum, Urethral diverticulum, Anal atresia, Cleft palate, Displacemen...	ORPHA:95706
Congenital Myopathy 17	Overlapping fingers, Mandibular prognathia, High palate, Tapered finger, Overlapping toe, Pectus ...	OMIM:618975
20P12.3 Microdeletion Syndrome	Pectus carinatum, Microtia, Narrow mouth, Broad thumb, Hypoplasia of the maxilla, Malar flattenin...	ORPHA:261295
Short Stature, Onychodysplasia, Facial Dysmorphism, And Hypotrichosis	Hypoplastic sacrum, Microtia, Short metacarpal, Hypoplastic pelvis, Short distal phalanx of finge...	OMIM:614813
W Syndrome	Hypoplasia of the ulna, Pes cavus, Cubitus valgus, Broad uvula, Camptodactyly, Metatarsus adductu...	ORPHA:2804
Terminal Osseous Dysplasia	Mesomelic arm shortening, Abnormal hand bone ossification, Abnormal bone structure, Low-set ears,...	OMIM:300244
Cono-Spondylar Dysplasia	Cone-shaped epiphyses of the phalanges of the hand, Anteverted nares, Scoliosis, Low-set ears, Ky...	ORPHA:420794
Acromesomelic Dysplasia 4	Sandal gap, Short metacarpal, Accelerated skeletal maturation, Mesomelia, Metaphyseal irregularit...	OMIM:619636
Pallister-Hall Syndrome	Mesoaxial polydactyly, Microtia, Oligodactyly, Broad thumb, Bifid uvula, Umbilical hernia, Small ...	ORPHA:672
Alg3-Cdg	Abnormality of the nose, Abnormality of the gastrointestinal tract, Coarctation of the descending...	ORPHA:79321
Martsolf Syndrome 1	Slender ulna, Pectus carinatum, Short metacarpal, Pectus excavatum, Broad femoral neck, Joint hyp...	OMIM:212720
Achondrogenesis Type 2	Abnormal bone ossification, Delayed pubic bone ossification, Narrow chest, Short ribs, Short long...	ORPHA:93296
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 1	Ureteral duplication, Short distal phalanx of finger, Long philtrum, Abnormal ilium morphology, A...	OMIM:614080
Infantile Liver Failure Syndrome 3	Beaking of vertebral bodies, Death in childhood, Hypoplastic vertebral bodies, Abnormality of the...	OMIM:618641
Catifa Syndrome	Delayed eruption of teeth, Tooth malposition, Anteverted nares, Microtia, Increased overbite, Cam...	OMIM:618761
Heart Defects-Limb Shortening Syndrome	Abnormal metaphysis morphology, Abnormal tricuspid valve morphology, Mesomelic/rhizomelic limb sh...	ORPHA:1354
Microphthalmia-Microtia-Fetal Akinesia Syndrome	Short nose, Hypoplasia of penis, Microtia, Limitation of joint mobility, Camptodactyly of finger,...	ORPHA:2547
Mesomelic Dwarfism, Reinhardt-Pfeiffer Type	Hypoplasia of the ulna, Fibular hypoplasia, Abnormal tibia morphology, Synostosis of carpal bones...	ORPHA:2634
Mucopolysaccharidosis, Type Iva	Cervical myelopathy, Pectus carinatum, Hyperlordosis, Kyphosis, Constricted iliac wing, Large elb...	OMIM:253000
Acrocapitofemoral Dysplasia	Narrow chest, Short thorax, Pectus carinatum, Scoliosis, Hyperlordosis, Pectus excavatum, Flared ...	ORPHA:63446
Mesomelic Limb Shortening And Bowing	Retrognathia, Mesomelic arm shortening, Camptodactyly of finger, Mesomelic leg shortening, Microg...	OMIM:249710
Osseous Heteroplasia, Progressive	Ectopic ossification in muscle tissue, Ankylosis, Limb undergrowth	OMIM:166350
Neurodevelopmental Disorder With Seizures, Spasticity, And Complete Or Partial Agenesis Of The Corpus Callosum	Narrow palate, Short nose, Retrognathia, Short philtrum, Hypodontia, Scoliosis, Thoracic kyphosis...	OMIM:620250
Pmp22-Rai1 Contiguous Gene Duplication Syndrome	Bicuspid aortic valve, Sandal gap, Aortic aneurysm, Wide nose, Patent foramen ovale, 2-3 toe synd...	ORPHA:477817
X-Linked Intellectual Disability, Sutherland-Haan Type	Decreased testicular size, Anal atresia	ORPHA:93950
Atelosteogenesis Type I	Short long bone, Thoracic hypoplasia, Malrotation of colon, Abnormal fibula morphology, Rhizomeli...	ORPHA:1190
Coffin-Siris Syndrome 4	Everted upper lip vermilion, Pulmonic stenosis, Prominent interphalangeal joints, Wide mouth, Lon...	OMIM:614609
Orofaciodigital Syndrome V	Aganglionic megacolon, Horseshoe kidney, Sandal gap, High palate, Ventricular septal defect, Anky...	OMIM:174300
Spondyloepimetaphyseal Dysplasia, Irapa Type	Pectus carinatum, Short metacarpal, Hypoplastic pelvis, Abnormal epiphysis morphology, Broad palm...	ORPHA:93351
Zaki Syndrome	Broad distal phalanx of finger, Patent ductus arteriosus, Short philtrum, Wide nose, Anteverted n...	OMIM:619648
Tetraploidy	Radial club hand, Short philtrum, Micrognathia, Cleft palate, Hydronephrosis, Aplasia/Hypoplasia ...	ORPHA:3305
Vacterl With Hydrocephalus	Hypoplasia of the radius, Retrognathia, Esophageal atresia, Abnormal fallopian tube morphology, A...	ORPHA:3412
Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, Genital Anomalies, And Immunodeficiency	Osteopenia, Long nose, Hypospadias, Scoliosis, Microtia, Low-set ears, Bilateral cryptorchidism, ...	OMIM:618336
Neurodevelopmental Disorder With Dysmorphic Facies And Distal Skeletal Anomalies	Pectus excavatum, Wide mouth, Joint hypermobility, Long philtrum, Cone-shaped epiphysis, Short fi...	OMIM:618659
Teebi Hypertelorism Syndrome 2	Short nose, Clinodactyly of the 5th finger, Hypospadias, Delayed eruption of teeth, High palate, ...	OMIM:619736
Meier-Gorlin Syndrome 8	Microtia, Narrow mouth, Low-set ears, Bilateral cryptorchidism, Micrognathia, Thick vermilion border	OMIM:617564
Clark-Baraitser Syndrome	Short nose, Short philtrum, Sandal gap, Low hanging columella, Anteverted nares, Exaggerated cupi...	OMIM:617752
Spondylometaphyseal Dysplasia, Type A4	Narrow greater sciatic notch, Sclerotic humeral metaphysis, Costochondral joint sclerosis, Enlarg...	OMIM:609052
Bohring-Opitz Syndrome	Retrognathia, Hyperechogenic pancreas, Dislocated radial head, Broad alveolar ridges, Bilateral c...	OMIM:605039
Rubinstein-Taybi Syndrome 2	Narrow palate, Retrognathia, Short 5th toe, Short first metatarsal, Increased overbite, Low hangi...	OMIM:613684
Intellectual Developmental Disorder, Autosomal Dominant 44, With Microcephaly	Retrognathia, Sandal gap, Dental crowding, Pectus excavatum, Dysphagia, Long philtrum, Short phil...	OMIM:617061
Ulnar/Fibula Ray Defect-Brachydactyly Syndrome	Talipes equinovarus, Malar flattening, Brachydactyly, Short 5th finger, Aplasia/Hypoplasia of the...	ORPHA:52056
Orofaciodigital Syndrome Vi	Radial deviation of finger, Tibial bowing, Accessory oral frenulum, Tongue nodules, Clinodactyly,...	OMIM:277170
Congenital Heart Defects And Skeletal Malformations Syndrome	Long nose, Sandal gap, Repeated pneumothoraces, Dental crowding, Pectus excavatum, Intestinal mal...	OMIM:617602
Orofaciodigital Syndrome Ix	Bifid nasal tip, High palate, Abnormality of the dentition, Camptodactyly, Hand polydactyly, Clef...	OMIM:258865
Spondylometaepiphyseal Dysplasia, Short Limb-Hand Type	Pectus carinatum, Triangular shaped distal phalanges of the hand, Short ribs, Short long bone, Sh...	OMIM:271665
Chromosome 18Q Deletion Syndrome	Rocker bottom foot, Proximal placement of thumb, Aortic valve stenosis, Bifid uvula, Overlapping ...	OMIM:601808
Diamond-Blackfan Anemia 11	Hypoplasia of the ulna, Hypoplasia of the radius, Bilateral cleft palate, Stenosis of the externa...	OMIM:614900
Intellectual Developmental Disorder, Autosomal Dominant 73	Bilateral single transverse palmar creases, Long nose, Retrognathia, Microtia, Hyperlordosis, Eve...	OMIM:620450
6Q16 Microdeletion Syndrome	Retrognathia, Long foot, Anteverted nares, Microtia, Low-set ears, Abnormal ear morphology, Micro...	ORPHA:171829
C Syndrome	Clitoral hypertrophy, Radial deviation of finger, Dislocated radial head, Short metacarpal, Delay...	OMIM:211750
Cleidocranial Dysplasia	Chronic otitis media, Glossoptosis, Decreased skull ossification, Sinusitis, Abnormal epiphysis m...	ORPHA:1452
Ring Chromosome 21 Syndrome	Azoospermia, Scoliosis, Narrow palm, Thoracic hemivertebrae, Syndactyly, Fused thoracic vertebrae...	ORPHA:1445
Hand-Foot-Genital Syndrome	Sacral dimple, Clinodactyly of the 5th finger, Hypospadias, Short first metatarsal, Short hallux,...	ORPHA:2438
Ankyloblepharon Filiforme Adnatum And Cleft Palate	Cleft upper lip, Cleft palate	OMIM:106250
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type	Short nose, Rhizomelia, Short philtrum, Hypoplastic iliac wing, Thin ribs, Abnormality of the cal...	ORPHA:163966
Acro-Renal-Ocular Syndrome	Sandal gap, Sensorineural hearing impairment, Short humerus, Hypoplasia of the ulna, Aganglionic ...	ORPHA:959
Brachial Amelia, Cleft Lip, And Holoprosencephaly	Tessier cleft, Bilateral cleft palate, Amelia, Cleft upper lip, Foot oligodactyly, Short femur, V...	OMIM:601357
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia	Short nose, Rhizomelia, 11 pairs of ribs, Metaphyseal cupping, Hypoplastic iliac wing, Hypoplasia...	OMIM:300863
Chromosome 6Pter-P24 Deletion Syndrome	Rocker bottom foot, Clinodactyly of the 5th finger, Dental crowding, Patent foramen ovale, Broad ...	OMIM:612582
Atrioventricular Defect-Blepharophimosis-Radial And Anal Defect Syndrome	Hypoplasia of the ulna, Hearing abnormality, Clinodactyly of the 5th finger, Aplasia/Hypoplasia o...	ORPHA:1352
Fanconi Anemia	Reduced bone mineral density, Abnormal femur morphology, Meckel diverticulum, Abnormal pinna morp...	ORPHA:84
Vacterl/Vater Association	Abnormality of the gallbladder, Abnormality of the pancreas, Ectopic kidney, Hypospadias, Hypopla...	ORPHA:887
Hypochondroplasia	Abnormal metaphysis morphology, Abnormal femur morphology, Abnormal form of the vertebral bodies,...	ORPHA:429
Mandibulofacial Dysostosis-Microcephaly Syndrome	Short nose, Abnormal middle ear morphology, Abnormal antihelix morphology, Microtia, Underdevelop...	ORPHA:79113
Chromosome 16P13.3 Duplication Syndrome	Rocker bottom foot, Proximal placement of thumb, Sandal gap, Tracheobronchomalacia, Microtia, Pec...	OMIM:613458
Whistling Face Syndrome, Recessive Form	Kyphoscoliosis, Long philtrum, Talipes equinovarus, Trismus, Shoulder flexion contracture, Elbow ...	OMIM:277720
Splenogonadal Fusion-Limb Defects-Micrognathia Syndrome	Narrow palate, Abnormal fibula morphology, Abnormal femur morphology, Abnormality of the wrist, A...	ORPHA:2063
Isolated Congenital Hypoglossia/Aglossia	Aplasia/Hypoplasia of fingers, Temporomandibular joint ankylosis, Aspiration pneumonia, Micrognat...	ORPHA:141152
Meier-Gorlin Syndrome 3	Clitoral hypertrophy, Absent sternal ossification, Microtia, Short ribs, Delayed skeletal maturat...	OMIM:613803
Ulnar Hypoplasia	Hypoplasia of the ulna, Hypoplasia of the radius, Radial dysplasia, Mesomelic arm shortening, Dis...	OMIM:191440
Peutz-Jeghers Syndrome	Rectal prolapse, Gastrointestinal carcinoma, Neoplasm of the pancreas, Precocious puberty with Se...	OMIM:175200
Congenital Heart Defects, Multiple Types, 5	Aortic valve stenosis, Tetralogy of Fallot, Bicuspid aortic valve, Atrial septal defect, Ventricu...	OMIM:617912
Spondylocostal Dysostosis With Anal Atresia And Urogenital Anomalies	Aplasia of the vagina, Scoliosis, Hemivertebrae, Aplasia of the uterus, Short ribs, Missing ribs,...	OMIM:271520
Spondyloepiphyseal Dysplasia Tarda	Kyphoscoliosis, Limited elbow movement, Spurred metaphyses of the upper limbs, Enlarged metaphyse...	ORPHA:93284
Cartilage-Hair Hypoplasia	Abnormal bone ossification, Biconvex vertebral bodies, Abnormal hip bone morphology, Abnormal for...	ORPHA:175
Orofaciodigital Syndrome Type 4	Retrognathia, Abnormal oral frenulum morphology, Bifid uvula, Genu varum, Short philtrum, Perinea...	ORPHA:2753
22Q11.2 Deletion Syndrome	Gastrointestinal hemorrhage, Abnormal aortic arch morphology, Anorectal anomaly, Intestinal malro...	ORPHA:567
Mckusick-Kaufman Syndrome	Hydrometrocolpos, Aganglionic megacolon, Tarsal synostosis, Abnormal metacarpal morphology, Paten...	ORPHA:2473
Noonan Syndrome-Like Disorder With Loose Anagen Hair	Thin vermilion border, Abnormal palate morphology, Thick lower lip vermilion, Short nose, Antever...	ORPHA:2701
Cat-Eye Syndrome	Hydronephrosis, Anal atresia	ORPHA:195
Ruvalcaba Syndrome	Short nose, Thin vermilion border, Clinodactyly of the 5th finger, Proximal placement of thumb, N...	ORPHA:3121
Cerebrofaciothoracic Dysplasia	Short nose, Bifid ribs, Low-set, posteriorly rotated ears, Wide nose, Narrow chest, Scoliosis, He...	ORPHA:1394
Zimmermann-Laband Syndrome 3	Aplasia of the distal phalanx of the 5th toe, Triphalangeal thumb, Thick lower lip vermilion, Gin...	OMIM:618658
17P13.3 Microduplication Syndrome	Short nose, Clinodactyly of the 5th finger, Wide nose, Hypoplasia of penis, High palate, Low-set ...	ORPHA:217385
Syndactyly, Mesoaxial Synostotic, With Phalangeal Reduction	Aplasia/Hypoplasia of the middle phalanx of the 2nd finger, Clinodactyly of the 5th finger, Aplas...	OMIM:609432
Arthrogryposis, Distal, Type 2A	Kyphoscoliosis, Rocker bottom foot, Flexion contracture of toe, Dental crowding, Wrist flexion co...	OMIM:193700
Familial Digital Arthropathy-Brachydactyly	Shortening of all distal phalanges of the toes, Short distal phalanx of finger, Short middle phal...	ORPHA:85169
Multiple Synostoses Syndrome 3	Cubitus valgus, Limited interphalangeal movement, Metacarpal synostosis, Humeroradial synostosis,...	OMIM:612961
46,Xx Difference Of Sex Development-Anorectal Anomalies Syndrome	Hydroureter, Abnormal internal genitalia, Urogenital sinus anomaly, Anal atresia, Tracheoesophage...	ORPHA:2973
Blomstrand Lethal Chondrodysplasia	Broad clavicles, Short ribs, Short metacarpal, Accelerated skeletal maturation, Mesomelia, Abnorm...	ORPHA:50945
Filippi Syndrome	Thin vermilion border, Finger clinodactyly, Short philtrum, Low hanging columella, Single transve...	OMIM:272440
Wolf-Hirschhorn Syndrome	Abnormal form of the vertebral bodies, Sensorineural hearing impairment, Abnormal pinna morpholog...	OMIM:194190
Osteoglophonic Dysplasia	Eruption failure, Short metacarpal, Broad metatarsal, Pectus excavatum, Broad thumb, Long philtru...	OMIM:166250
Treacher-Collins Syndrome	Retrognathia, Hypoplasia of penis, Microtia, Glossoptosis, Tracheoesophageal fistula, Tooth agene...	ORPHA:861
Orofacial Cleft 10	Unilateral cleft lip, Unilateral cleft palate	OMIM:613705
Xp22.3 Microdeletion Syndrome	Secondary amenorrhea, Ectopic anus, Polycystic ovaries, Decreased fertility, Hypogonadotropic hyp...	ORPHA:1643
Brachycephaly, Deafness, Cataract, Microstomia, And Impaired Intellectual Development	Rocker bottom foot, Superior pectus carinatum, Microtia, Long philtrum, Small scrotum, Scoliosis,...	OMIM:601353
Orofacial Cleft 5	Cleft upper lip, Cleft palate	OMIM:608874
Orofacial Cleft 6, Susceptibility To	Cleft upper lip, Cleft palate	OMIM:608864
Orofacial Cleft 1	Cleft upper lip, Cleft palate	OMIM:119530
Serkal Syndrome	Orofacial cleft, Abnormality of the adrenal glands, Hypospadias, Abnormal penis morphology, Pulmo...	ORPHA:139466
Ulnar-Mammary Syndrome	Stiff elbow, Aplasia of the 4th metacarpal, Short humerus, Absent radius, Aplasia of the 3rd meta...	OMIM:181450
Beta-Mercaptolactate Cysteine Disulfiduria	Genu valgum, Low-set, posteriorly rotated ears, Sandal gap, Anteverted nares, High palate, Microm...	ORPHA:1035
Cornelia De Lange Syndrome 4 With Or Without Midline Brain Defects	Intestinal malrotation, Syndactyly, Enamel agenesis, Long philtrum, Anteverted nares, Cleft palat...	OMIM:614701
Roberts-Sc Phocomelia Syndrome	Clitoral hypertrophy, Radial deviation of finger, Abnormal pinna morphology, Wrist flexion contra...	OMIM:268300
8Q24.3 Microdeletion Syndrome	Rocker bottom foot, Gastrointestinal hemorrhage, Pectus excavatum, Abnormal heart morphology, Dys...	ORPHA:508488
Cleft Palate, Cardiac Defect, Genital Anomalies, And Ectrodactyly	Hypospadias, Clubbing, Split hand, Cryptorchidism, Cleft upper lip, Coarctation of aorta, Cleft p...	OMIM:600460
1Q41Q42 Microdeletion Syndrome	Underdeveloped nasal alae, Hyposegmentation of neutrophil nuclei, Hypergonadotropic hypogonadism,...	ORPHA:250999
Steinfeld Syndrome	Hypoplasia of the ulna, Hypoplasia of the radius, Abnormal vertebral morphology, Abnormality of t...	OMIM:184705
Chromosome 1P36 Deletion Syndrome, Proximal	Atrial septal defect, Partial anomalous pulmonary venous return, Coronary artery fistula, Antever...	OMIM:619343
Ulnar-Mammary Syndrome	Aplasia of the pectoralis major muscle, Abnormality of the wrist, Abnormal metacarpal morphology,...	ORPHA:3138
Solitary Rectal Ulcer Syndrome	Rectal prolapse, Hematochezia, Stercoral ulcer, Anal fissure	ORPHA:209964
Acrofacial Dysostosis 1, Nager Type	Retrognathia, Radial deviation of finger, Temporomandibular joint ankylosis, Wide mouth, Absent t...	OMIM:154400
Epidermolysis Bullosa Simplex 5C, With Pyloric Atresia	Anteverted nares, Microtia, Congenital pyloric atresia, Neonatal death, Flexion contracture, Unde...	OMIM:612138
Meier-Gorlin Syndrome 6	Sandal gap, Tracheobronchomalacia, Microtia, Delayed skeletal maturation, Umbilical hernia, Antev...	OMIM:616835
Neurodevelopmental Disorder With Impaired Language, Behavioral Abnormalities, And Dysmorphic Facies	Kyphoscoliosis, Microtia, Everted lower lip vermilion, Joint stiffness, Long philtrum, Clinodacty...	OMIM:620494
Right Atrial Isomerism	Abnormal lung lobation, Situs inversus totalis, Transposition of the great arteries, Dextrocardia...	OMIM:208530
Neutropenia, Severe Congenital, 4, Autosomal Recessive	Perianal abscess, Pulmonic stenosis, Broad thumb, Leukopenia, Splenomegaly, Lymphopenia, Clinodac...	OMIM:612541
Ear-Patella-Short Stature Syndrome	Retrognathia, Clitoral hypertrophy, Hypoplasia of penis, Delayed skeletal maturation, Bifid uvula...	ORPHA:2554
Nabais Sa-De Vries Syndrome, Type 2	Thin vermilion border, Clinodactyly of the 5th finger, Gastroesophageal reflux, Bilateral cleft p...	OMIM:618829
Chondrodysplasia, Blomstrand Type	Stillbirth, Abnormal vertebral morphology, Narrow chest, Flared metaphysis, Squared iliac bones, ...	OMIM:215045
Tarp Syndrome	Rocker bottom foot, Meckel diverticulum, Microtia, Glossoptosis, Pectus excavatum, Tongue nodules...	OMIM:311900
Down Syndrome	Sandal gap, Hypoplastic iliac wing, Broad palm, Clinodactyly, Aganglionic megacolon, Patent foram...	OMIM:190685
Skeletal Dysplasia, Mild, With Joint Laxity And Advanced Bone Age	Clinodactyly of the 2nd finger, Hyperlordosis, Flat acetabular roof, Limited knee extension, Pect...	OMIM:618870
Vertebral Hypoplasia With Lumbar Kyphosis	Vertebral hypoplasia, Lumbar kyphosis	OMIM:192900
Brachydactylous Dwarfism, Mseleni Type	Osteopenia, Osteoarthritis of the elbow, Abnormality of the wrist, Hip osteoarthritis, Joint subl...	ORPHA:2619
Muscular Dystrophy-Dystroglycanopathy (Congenital With Or Without Impaired Intellectual Development), Type B, 5	Scoliosis, Hyperlordosis, Calf muscle hypertrophy, Kyphosis, Achilles tendon contracture, Thigh h...	OMIM:606612
Chung-Jansen Syndrome	Short nose, Long philtrum, Thin vermilion border, Clinodactyly of the 5th finger, Short philtrum,...	OMIM:617991
16P12.1P12.3 Triplication Syndrome	Thin vermilion border, High, narrow palate, Retrognathia, Abnormal tricuspid valve morphology, Sh...	ORPHA:485405
Trisomy 8Q	Hypoplasia of penis, Everted lower lip vermilion, Myelomeningocele, Joint stiffness, Abnormal ora...	ORPHA:1752
Greenberg Dysplasia	Abnormal bone ossification, Rhizomelia, Narrow chest, Abnormal form of the vertebral bodies, Abno...	ORPHA:1426
Atrioventricular Septal Defect, Susceptibility To, 2	Right aortic arch with mirror image branching, Atrioventricular canal defect, Pulmonary artery at...	OMIM:606217
Au-Kline Syndrome	Retrognathia, Deep plantar creases, Sensorineural hearing impairment, Microtia, Bifid nasal tip, ...	OMIM:616580
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency	Hypoplasia of the thymus, Metaphyseal chondrodysplasia, Lymphopenia	OMIM:200900
Onychodystrophy, Osteodystrophy, Impaired Intellectual Development, And Seizures Syndrome	Short nose, Anteverted nares, Short distal phalanx of toe, Narrow mouth, Microdontia, Bilateral t...	OMIM:619356
Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb	Prominent fingertip pads, Pectus excavatum, Microdontia, Broad thumb, Bifid uvula, Bicuspid aorti...	OMIM:612474
Hallux Varus And Preaxial Polysyndactyly	Preaxial hand polydactyly, Hallux varus, Broad hallux, Syndactyly	OMIM:234280
Triphalangeal Thumb With Polysyndactyly	Triphalangeal thumb, Finger syndactyly, Postaxial hand polydactyly, Broad thumb, Preaxial hand po...	OMIM:190605
Acromesomelic Dysplasia 1	Cone-shaped epiphyses of the phalanges of the hand, Short metacarpal, Broad metatarsal, Joint hyp...	OMIM:602875
Eiken Syndrome	Abnormal bone ossification, High iliac wing, Absence of the sacrum, Metaphyseal irregularity, Fib...	ORPHA:79106
16P13.11 Microdeletion Syndrome	Short nose, Gastroesophageal reflux, Anteverted nares, Exaggerated cupid's bow, Pectus excavatum,...	ORPHA:261236
Cleft Lip/Palate-Ectodermal Dysplasia Syndrome	Bilateral single transverse palmar creases, Recurrent respiratory infections, Finger syndactyly, ...	ORPHA:3253
Burn-Mckeown Syndrome	Abnormal palate morphology, Short nose, Bilateral choanal atresia, Prominent nasal bridge, Wide n...	ORPHA:1200
Intellectual Developmental Disorder With Dysmorphic Facies And Behavioral Abnormalities	Sandal gap, Microtia, Tapered finger, Short foot, Low-set ears, Everted lower lip vermilion, Clef...	OMIM:618089
Ehlers-Danlos Syndrome, Classic-Like, 2	Cervical C2/C3 vertebral fusion, Facet joint arthrosis, Umbilical hernia, Joint hypermobility, Hi...	OMIM:618000
Paget Disease Of Bone 5, Juvenile-Onset	Osteopenia, Barrel-shaped chest, Increased bone mineral density, Sensorineural hearing impairment...	OMIM:239000
Phosphoribosylaminoimidazole Carboxylase Deficiency	Short nose, Bilateral choanal atresia, Clinodactyly of the 5th finger, Esophageal atresia, Lumbar...	OMIM:619859
Mental Retardation, Skeletal Dysplasia, And Abducens Palsy	Short middle phalanx of finger, Anal atresia	OMIM:309620
Cat Eye Syndrome	Rectal fistula, Anal stenosis, Biliary atresia, Meckel diverticulum, Vesicoureteral reflux, Anal ...	OMIM:115470
Trisomy 13	Abnormal lung lobation, Bilateral single transverse palmar creases, High, narrow palate, Postaxia...	ORPHA:3378
Blepharo-Cheilo-Odontic Syndrome	Finger syndactyly, Bilateral cleft palate, Anal atresia	ORPHA:1997
Microcephalic Osteodysplastic Dysplasia, Saul-Wilson Type	Narrow nasal bridge, Cone-shaped epiphyses of the phalanges of the hand, Overhanging nasal tip, I...	ORPHA:85172
Heterotaxy, Visceral, 1, X-Linked	Enlarged kidney, Posteriorly placed anus, Short long bone, Pulmonic stenosis, Absence of the sacr...	OMIM:306955
Split-Hand/Foot Malformation 1	Triphalangeal thumb, Split hand, Ectrodactyly, Finger aplasia, Split foot, Cleft palate, Foot oli...	OMIM:183600
Intellectual Developmental Disorder, X-Linked, Syndromic, Snijders Blok Type	Dysplastic pulmonary valve, Anteverted nares, Precocious puberty, Cleft upper lip, Bifid uvula, C...	OMIM:300958
Isotretinoin Syndrome	Sacral dimple, Spina bifida occulta, Microtia, Micrognathia, Cleft palate, Abnormality of the out...	ORPHA:2305
Tetrasomy 5P	Short nose, Clinodactyly of the 5th finger, Short hallux, Anteverted nares, High palate, Pectus e...	ORPHA:3309
Phaver Syndrome	Butterfly vertebrae, Triphalangeal thumb, Abnormal form of the vertebral bodies, Pterygium, Aplas...	ORPHA:2876
Clark-Baraitser syndrome	Genu valgum, Thick lower lip vermilion, Genu recurvatum, Anteverted nares, Scoliosis, Prominent m...	OMIM:300602
Multiple Synostoses Syndrome 2	Finger symphalangism, Tarsal synostosis, Wide nose, Talipes equinovarus, Proximal symphalangism, ...	OMIM:610017
Hyperphosphatasia With Impaired Intellectual Development Syndrome 2	Short nose, Aganglionic megacolon, Anal stenosis, Vesicoureteral reflux, Anal atresia, Shortening...	OMIM:614749
Microbrachycephaly-Ptosis-Cleft Lip Syndrome	Bilateral single transverse palmar creases, Abnormal thumb morphology, Abnormal zygomatic bone mo...	ORPHA:2511
Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked	Rocker bottom foot, Retrognathia, Pulmonic stenosis, Leukopenia, Megarectum, Coxa valga, Deep pal...	OMIM:301056
Spondyloepimetaphyseal Dysplasia, X-Linked, With Hypomyelinating Leukodystrophy	Kyphoscoliosis, Flared iliac wing, Delayed skeletal maturation, Flattened epiphysis, Wormian bone...	OMIM:300232
Pseudoachondroplasia	Short long bone, Short metacarpal, Kyphosis, Metaphyseal irregularity, Short distal phalanx of fi...	OMIM:177170
Frontometaphyseal Dysplasia	Limited elbow movement, Mixed hearing impairment, Limitation of knee mobility, Dislocated radial ...	ORPHA:1826
Acromegaloid Facial Appearance Syndrome	Tapered finger, Thick nasal alae, Micrognathia, Large hands, Thick vermilion border, Bulbous nose...	OMIM:102150
Brain Malformation-Congenital Heart Disease-Postaxial Polydactyly Syndrome	Abnormality of the anterior pituitary, Anteverted nares, Postaxial hand polydactyly, Everted lowe...	ORPHA:75389
Neuropathy, Congenital Hypomyelinating, 3	Narrow palate, Retrognathia, Abnormal foot morphology, Respiratory insufficiency, 2-3 toe syndact...	OMIM:618186
Codas Syndrome	Short nose, Midline defect of the nose, Abnormal form of the vertebral bodies, Delayed eruption o...	ORPHA:1458
Occipital Horn Syndrome	Pectus carinatum, Broad clavicles, Limited knee extension, Kyphosis, Pectus excavatum, Persistent...	OMIM:304150
Meier-Gorlin Syndrome 7	Dislocated radial head, Clubbing, Hypospadias, Choanal atresia, Cryptorchidism, Cleft palate, Ure...	OMIM:617063
Cervical Ribs, Sprengel Anomaly, Anal Atresia, And Urethral Obstruction	Urethral obstruction, Anal atresia, Renal hypoplasia, Preaxial hand polydactyly, Talipes equinovarus	OMIM:601389
Distal Triplication 15Q	Retrognathia, Sensorineural hearing impairment, Scoliosis, Abnormal external genitalia, High pala...	ORPHA:314588
X-Linked Dominant Chondrodysplasia Punctata	Kyphoscoliosis, Talipes equinovarus, Epiphyseal stippling, Sensorineural hearing impairment, Abno...	ORPHA:35173
Shox-Related Short Stature	Ulnar radial head dislocation, Genu valgum, Cubitus valgus, Madelung deformity, Scoliosis, Tibial...	ORPHA:314795
Keratoconus Posticus Circumscriptus	Clinodactyly of the 5th finger, Limited elbow extension and supination, Cleft upper lip, Cleft pa...	OMIM:244600
15Q24 Microdeletion Syndrome	Abnormal thumb morphology, Hypospadias, Proximal placement of thumb, Anal atresia, Microphallus, ...	ORPHA:94065
Autosomal Dominant Robinow Syndrome	Retrognathia, Hypoplasia of penis, Abnormal form of the vertebral bodies, Pectus carinatum, Pectu...	ORPHA:3107
Klippel-Feil Syndrome 4, Autosomal Recessive, With Nemaline Myopathy And Facial Dysmorphism	Long philtrum, Cervical C2/C3 vertebral fusion, High palate, Low-set ears, Everted lower lip verm...	OMIM:616549
Diaphanospondylodysostosis	Decreased skull ossification, Unossified sacrum, Thoracic hypoplasia, Absent in utero rib ossific...	OMIM:608022
Fryns Syndrome	Rocker bottom foot, Ureteral duplication, Proximal placement of thumb, Meckel diverticulum, Promi...	OMIM:229850
Thanatophoric Dysplasia	Abnormal metaphysis morphology, Abnormal ilium morphology, Abnormal sacroiliac joint morphology, ...	ORPHA:2655
Distal Monosomy 7Q36	Bilateral single transverse palmar creases, Clinodactyly of the 5th finger, Hypoplasia of penis, ...	ORPHA:1636
Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Impaired Intellectual Development, And Ear Anomalies Syndrome	Broad 2nd toe, Everted lower lip vermilion, Pectus excavatum, Wide mouth, Clinodactyly, Transposi...	OMIM:280000
Fibrochondrogenesis 2	Short nose, Bell-shaped thorax, Metaphyseal cupping, Anteverted nares, Hypoplastic pubic bone, Sh...	OMIM:614524
Structural Heart Defects And Renal Anomalies Syndrome	Tricuspid atresia, Interrupted aortic arch, Right aortic arch, Truncus arteriosus, Renal cyst, Te...	OMIM:617478
Yuan-Harel-Lupski Syndrome	Bicuspid aortic valve, Clinodactyly of the 5th finger, Sandal gap, Wide nose, Aortic root aneurys...	OMIM:616652
Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 1	Short nose, Slender nose, Pectus carinatum, Scoliosis, Low-set ears, Macrotia, Micrognathia, Join...	OMIM:615419
Camptodactyly Syndrome, Guadalajara Type 2	Short 5th toe, Patellar hypoplasia, Talipes equinovarus, Labial hypoplasia, Short 2nd toe, Pectus...	ORPHA:1326
Osteopathia Striata With Cranial Sclerosis	Flexion contracture of toe, Dental crowding, Microtia, Pectus excavatum, Intestinal malrotation, ...	OMIM:300373
Hypogonadotropic Hypogonadism 3 With Or Without Anosmia	Unilateral renal agenesis, Hyposmia, Anosmia, Pectus excavatum, Cryptorchidism, Cleft upper lip, ...	OMIM:244200
Xy Type Gonadal Dysgenesis-Associated Anomalies Syndrome	Bilateral single transverse palmar creases, Gonadal dysgenesis, Low-set, posteriorly rotated ears...	ORPHA:1770
Facial Clefting, Oblique, 1	Cleft upper lip, Tessier number 4 facial cleft, Cleft palate, Deep palmar crease	OMIM:600251
Odontoid Hypoplasia	Cervical instability, Atlantoaxial instability, Dystopic os odontoideum, Hypoplasia of the odonto...	OMIM:613628
Potocki-Shaffer Syndrome	Short nose, Short philtrum, Single transverse palmar crease, 2-5 finger cutaneous syndactyly, Dow...	OMIM:601224
Stuve-Wiedemann Syndrome 1	Wide nasal base, Flexion contracture of toe, Femoral bowing, Short long bone, Clubbing, Tibial bo...	OMIM:601559
Congenital Radioulnar Synostosis	Polydactyly, Limited elbow movement, Abnormality of the musculature of the upper arm, Dislocated ...	ORPHA:3269
Koolen-De Vries Syndrome	Spondylolisthesis, Prominent fingertip pads, Pectus excavatum, Kyphosis, Everted lower lip vermil...	OMIM:610443
Sandestig-Stefanova Syndrome	Rocker bottom foot, Retrognathia, Bilateral single transverse palmar creases, Orofacial cleft, Un...	OMIM:618804
Cervical Vertebral Dysplasia	Anterior atlanto-occipital dislocation, Cervical vertebral facet hypoplasia, Cervical vertebral d...	OMIM:118005
Seckel Syndrome 7	Abnormal carpal morphology, Clinodactyly of the 5th finger, Madelung deformity, Microtia, Short m...	OMIM:614851
Smith-Magenis Syndrome	Delayed puberty, Delayed eruption of primary teeth, Taurodontia, Short philtrum, Anteverted nares...	ORPHA:819
Short-Rib Thoracic Dysplasia 8 With Or Without Polydactyly	Preaxial polydactyly, Short ribs, Femoral bowing, Short long bone, Acetabular spurs, Pancreatic f...	OMIM:615503
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly	Cone-shaped epiphyses of the phalanges of the hand, Hypoplastic iliac wing, Short ribs, Hypoplast...	OMIM:208500
Dysraphism-Cleft Lip/Palate-Limb Reduction Defects Syndrome	Non-midline cleft of the upper lip, Ectopic anus, Cleft palate, Aplasia/Hypoplasia of the radius,...	ORPHA:2476
Short-Rib Thoracic Dysplasia 12	Short ribs, Short long bone, Intestinal malrotation, Splenomegaly, Cystic renal dysplasia, Short ...	OMIM:269860
Aspartylglucosaminuria	Chronic otitis media, Pectus carinatum, Microtia, Joint stiffness, Delayed skeletal maturation, U...	ORPHA:93
Hyperlysinemia	Argininuria, Gastroesophageal reflux, Decreased urine alpha-ketoglutarate concentration, High pal...	ORPHA:2203
Fetal Akinesia Deformation Sequence	Intestinal hypoplasia, Camptodactyly of finger, Micrognathia, Cleft palate, Pulmonary hypoplasia,...	ORPHA:994
Multiple Sulfatase Deficiency	Anteverted nares, Broad thumb, Hearing impairment, Hypoplastic vertebral bodies, Broad hallux	OMIM:272200
Cloacal Exstrophy	Abnormal fibula morphology, Hydroureter, Ectopic kidney, Abnormal clitoris morphology, Hypoplasia...	ORPHA:93929
Brachydactyly, Type A1	Thin proximal phalanges with broad epiphyses of the hand, Proportionate shortening of all digits,...	OMIM:112500
Chromosome 16P12.2-P11.2 Deletion Syndrome, 7.1- To 8.7-Mb	Short nose, Gastroesophageal reflux, Single transverse palmar crease, Anteverted nares, High pala...	OMIM:613604
Renpenning Syndrome	Abnormal thumb morphology, High, narrow palate, Clinodactyly of the 5th finger, Hypospadias, Anal...	ORPHA:3242
Split-Foot Deformity With Mandibulofacial Dysostosis	Split hand, Split foot, Micrognathia, Cleft palate, Malar flattening, Toe syndactyly	OMIM:183700
Holt-Oram Syndrome	Aplasia of the pectoralis major muscle, Cervical C2/C3 vertebral fusion, Proximal placement of th...	OMIM:142900
Fanconi Anemia, Complementation Group D1	Short thumb, Anal atresia	OMIM:605724
Hydrocephalus-Costovertebral Dysplasia-Sprengel Anomaly Syndrome	Sandal gap, Abnormal form of the vertebral bodies, Anteverted nares, Scoliosis, Hemivertebrae, Hi...	ORPHA:2180
Schisis Association	Cleft palate, Tracheoesophageal fistula, Anal atresia, Micromelia	ORPHA:63862
Perlman Syndrome	Bilateral single transverse palmar creases, Retrognathia, High, narrow palate, Short nose, Hyperi...	ORPHA:2849
Opitz-Kaveggia Syndrome	Radial deviation of finger, Dental crowding, Prominent fingertip pads, Intestinal malrotation, Br...	OMIM:305450
Isolated Pierre Robin Syndrome	Glossoptosis, Micrognathia, Cleft palate, Neonatal respiratory distress	ORPHA:718
Congenital Laryngomalacia	Non-midline cleft of the upper lip, Cleft palate	ORPHA:2373
Anauxetic Dysplasia 1	Delayed ossification of carpal bones, Microdontia, Joint hypermobility, Cervical subluxation, Sho...	OMIM:607095
Spondyloepimetaphyseal Dysplasia, Irapa Type	Limited elbow extension, Hypoplastic sacrum, Genu valgum, Enlargement of the costochondral juncti...	OMIM:271650
Roifman Syndrome	Bilateral single transverse palmar creases, Biconvex vertebral bodies, Clinodactyly of the 5th fi...	ORPHA:353298
X-Linked Intellectual Disability, Abidi Type	Non-midline cleft of the upper lip, Pectus excavatum, Decreased testicular size, Cleft palate, Pr...	ORPHA:85273
Spondylomegaepiphyseal Dysplasia With Upper Limb Mesomelia, Punctate Calcifications, And Deafness	Narrow greater sciatic notch, Mesomelic arm shortening, Cone-shaped epiphyses of the phalanges of...	OMIM:609616
Oculogastrointestinal Neurodevelopmental Syndrome	Vaginal fistula, Horseshoe kidney, Anal atresia	OMIM:619318
Simpson-Golabi-Behmel Syndrome	Hypoplasia of penis, Pectus excavatum, Death in infancy, Broad thumb, Accelerated skeletal matura...	ORPHA:373
Growth Delay-Hydrocephaly-Lung Hypoplasia Syndrome	Abnormal fibula morphology, Tibial bowing, Bowing of the long bones, Intestinal malrotation, Micr...	ORPHA:3035
Rhombencephalosynapsis	Polydactyly, Aganglionic megacolon, Esophageal atresia, Finger syndactyly, Anal atresia, Tracheoe...	ORPHA:59315
Pseudotrisomy 13 Syndrome	Tricuspid atresia, Dextrocardia, 11 pairs of ribs, 2-3 toe syndactyly, Adrenal hypoplasia, Postax...	OMIM:264480
Preaxial Deficiency, Postaxial Polydactyly, And Hypospadias	Glandular hypospadias, Short 2nd toe, Postaxial hand polydactyly, Short thumb, Short 5th finger	OMIM:176305
Bartsocas-Papas Syndrome	Short nose, Finger syndactyly, Underdeveloped nasal alae, Narrow mouth, Aplasia/Hypoplasia of the...	ORPHA:1234
Intellectual Disability-Hypoplastic Corpus Callosum-Preauricular Tag Syndrome	Abnormal palate morphology, Short nose, Gastroesophageal reflux, Narrow mouth, Camptodactyly of f...	ORPHA:1495
Cantú Syndrome	Deep plantar creases, Delayed skeletal maturation, Accelerated skeletal maturation, Wide mouth, U...	ORPHA:1517
Trisomy 20P	Reduced bone mineral density, Abnormal hip bone morphology, Abnormal form of the vertebral bodies...	ORPHA:261318
Deafness-Genital Anomalies-Metacarpal And Metatarsal Synostosis Syndrome	Pes cavus, Abnormal vertebral morphology, Abnormal metacarpal morphology, Hypospadias, Short hall...	ORPHA:3224
Hypogonadotropic Hypogonadism 2 With Or Without Anosmia	Delayed puberty, Hyposmia, Ectrodactyly, Anosmia, Tooth agenesis, Choanal atresia, Cleft upper li...	OMIM:147950
Severe Intellectual Disability-Epilepsy-Anal Anomalies-Distal Phalangeal Hypoplasia	Aplasia/Hypoplasia of the distal phalanges of the hand, Short philtrum, Ectopic anus, Mandibular ...	ORPHA:94066
Oculodentodigital Dysplasia	Joint contracture of the 5th finger, Broad alveolar ridges, Microdontia, Clinodactyly, Narrow nos...	OMIM:164200
Bone Dysplasia, Lethal Holmgren Type	Abnormal femur morphology, Short ribs, Abnormal epiphysis morphology, Joint hypermobility, Abnorm...	ORPHA:1842
Cornelia De Lange Syndrome 1	Ectopic kidney, Proximal placement of thumb, Dislocated radial head, Malrotation of colon, Long p...	OMIM:122470
Intellectual Developmental Disorder, Autosomal Recessive 13	Short philtrum, Slender finger, Cleft upper lip, Downturned corners of mouth, Smooth philtrum, Wi...	OMIM:613192
Orofaciodigital Syndrome Xviii	Preaxial polydactyly, Urinary incontinence, Genu valgum, Short philtrum, Accessory oral frenulum,...	OMIM:617927
Bartsocas-Papas Syndrome 1	Hypoplastic iliac wing, Microtia, Oligodactyly, Short metacarpal, Absent thumb, Syndactyly, Absen...	OMIM:263650
Distal Deletion 13Q	Abnormality of the hand, Abnormal metacarpal morphology, Aplasia/Hypoplasia of the thumb, Anal at...	ORPHA:1590
Satb2-Associated Syndrome Due To A Chromosomal Rearrangement	Abnormal hip bone morphology, Dental crowding, Tibial bowing, Microdontia, Agenesis of permanent ...	ORPHA:251028
Thoracomelic Dysplasia	Abnormal metaphysis morphology, Abnormal fibula morphology, Diaphyseal undertubulation, Genu valg...	ORPHA:1803
Hamamy Syndrome	Everted lower lip vermilion, Pectus excavatum, Wide mouth, Syndactyly, Long philtrum, Long toe, A...	OMIM:611174
Craniosynostosis-Mental Retardation-Clefting Syndrome	Orofacial cleft, Craniosynostosis, Forearm undergrowth, Lower limb undergrowth, Convex nasal ridge	OMIM:218650
Split-Foot Malformation-Mesoaxial Polydactyly Syndrome	Aplasia/Hypoplasia of the distal phalanx of the hallux, Aplasia/Hypoplasia of the phalanges of th...	ORPHA:488232
Short-Rib Thoracic Dysplasia 16 With Or Without Polydactyly	Widely spaced teeth, Short metatarsal, Sandal gap, Cone-shaped epiphyses of the phalanges of the ...	OMIM:617102
Aicardi Syndrome	Butterfly vertebrae, Proximal placement of thumb, Anteverted nares, Scoliosis, Hemivertebrae, Mis...	OMIM:304050
Achondroplasia	Narrow greater sciatic notch, Short long bone, Flat acetabular roof, Kyphosis, Trident hand, Shor...	ORPHA:15
X-Linked Microcephaly-Growth Retardation-Prognathism-Cryptorchidism Syndrome	Hypospadias, Gastroesophageal reflux, Finger syndactyly, Dental crowding, Mandibular prognathia, ...	ORPHA:435938
Foxp1 Syndrome	Retrognathia, Short nose, Single transverse palmar crease, Mandibular prognathia, Prominent finge...	ORPHA:391372
Robin Sequence With Cleft Mandible And Limb Anomalies	Cleft lower alveolar ridge, Mesomelic arm shortening, Proximal placement of thumb, Short metacarp...	OMIM:268305
Short Stature And Facioauriculothoracic Malformations	Abnormal odontoid process morphology, Pectus carinatum, Microtia, High palate, Low-set ears, Pect...	OMIM:609654
Monosomy 9P	Bilateral single transverse palmar creases, Proximal placement of thumb, Microtia, Long philtrum,...	ORPHA:261112
Spondyloepiphyseal Dysplasia Congenita	Limited elbow movement, Spinal rigidity, Reduced bone mineral density, Short long bone, Flat acet...	ORPHA:94068
Pontocerebellar Hypoplasia, Type 1C	Death in childhood, Respiratory insufficiency, Tongue fasciculations, Hearing impairment, Joint c...	OMIM:616081
Neurodevelopmental Disorder With Structural Brain Anomalies And Dysmorphic Facies	Short nose, Hypoplastic female external genitalia, Anteverted nares, Scoliosis, Micrognathia, Cli...	OMIM:618577
Raine Syndrome	Pectus excavatum, Microdontia, Wide mouth, Choanal atresia, Micromelia, Cleft palate, Malar flatt...	OMIM:259775
3P25.3 Microdeletion Syndrome	Proximal placement of thumb, Pulmonic stenosis, Broad thumb, Overlapping toe, Short philtrum, Cor...	ORPHA:435638
Intellectual Developmental Disorder, X-Linked, Syndromic 35	Dilation of Virchow-Robin spaces, Dental crowding, Long philtrum, Short finger, 2-3 toe cutaneous...	OMIM:300998
Wiedemann-Rautenstrauch Syndrome	Kyphoscoliosis, Retrognathia, Atlantoaxial abnormality, Hypoplastic vertebral bodies, Short humer...	ORPHA:3455
Spondyloepimetaphyseal Dysplasia, Aggrecan Type	Short finger, Platyspondyly, Rhizomelia, Irregular epiphyses, Barrel-shaped chest, Mandibular pro...	OMIM:612813
Spondyloepimetaphyseal Dysplasia Congenita, Strudwick Type	Restricted large joint movement, Abnormal vertebral morphology, Small epiphyses, Flared metaphysi...	ORPHA:93346
Radio-Ulnar Synostosis-Amegakaryocytic Thrombocytopenia Syndrome	Clinodactyly of the 5th finger, Amegakaryocytic thrombocytopenia, Finger syndactyly, Radioulnar s...	ORPHA:71289
Epiphyseal Dysplasia-Hearing Loss-Dysmorphism Syndrome	Delayed puberty, Abnormal thumb morphology, Abnormality of the wrist, Proximal placement of thumb...	ORPHA:1825
Alg9-Cdg	Narrow greater sciatic notch, Enlarged kidney, Low insertion of columella, Hypoplasia of the ovar...	ORPHA:79328
Zttk Syndrome	Kyphosis, Bifid uvula, Cervical ribs, Joint hypermobility, Craniosynostosis, Short philtrum, Scol...	OMIM:617140
Peroxisome Biogenesis Disorder 2A (Zellweger)	Cubitus valgus, Polycystic kidney dysplasia, Single transverse palmar crease, Hypoplasia of the t...	OMIM:214110
Hamel Cerebro-Palato-Cardiac Syndrome	Narrow mouth, Arachnodactyly, Micrognathia, Cleft palate, Malar flattening, Atrial septal defect,...	ORPHA:93946
Ellis-Van Creveld Syndrome	Epispadias, Genu valgum, Hypospadias, Talipes equinovarus, Delayed eruption of teeth, Hypoplastic...	OMIM:225500
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly	Disproportionate shortening of the tibia, Postaxial polysyndactyly of foot, Polycystic kidney dys...	OMIM:263520
Autosomal Dominant Spastic Paraplegia Type 29	Abnormal rectum morphology, Hiatus hernia	ORPHA:101009
Congenital Heart Defect-Round Face-Developmental Delay Syndrome	Short nose, Abnormal oral cavity morphology, Hypospadias, Anteverted nares, Narrow mouth, Depress...	ORPHA:1355
Trochlea Of The Humerus, Aplasia Of	Short humerus, Cleft palate	OMIM:191000
Spondylometaphyseal Dysplasia, Kozlowski Type	Kyphoscoliosis, Narrow greater sciatic notch, Cone-shaped epiphyses of the phalanges of the hand,...	OMIM:184252
46,Xy Sex Reversal 4	Gonadal dysgenesis, Hypoplastic labia majora, High palate, Anal atresia, Hypergonadotropic hypogo...	OMIM:154230
Aicardi Syndrome	Butterfly vertebrae, Bifid ribs, Intestinal polyposis, Short philtrum, Scoliosis, Missing ribs, R...	ORPHA:50
Hennekam Lymphangiectasia-Lymphedema Syndrome 2	Intestinal lymphangiectasia, Microtia, Narrow mouth, Camptodactyly, Osteoporosis, Hearing impairm...	OMIM:616006
Short Stature-Deafness-Neutrophil Dysfunction-Dysmorphism Syndrome	Ectopic anus	ORPHA:2866
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins	Retrognathia, Meckel diverticulum, Tracheoesophageal fistula, Intestinal malrotation, Dysplastic ...	OMIM:265380
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome	Kyphoscoliosis, Multiple joint dislocation, Mixed hearing impairment, Repeated pneumothoraces, Pe...	ORPHA:536467
Acrofacial Dysostosis, Catania Type	Bilateral single transverse palmar creases, Short nose, Abnormal palate morphology, Clinodactyly ...	ORPHA:1786
46,Xx Sex Reversal With Dysgenesis Of Kidneys, Adrenals, And Lungs	Hypospadias, Bilateral lung agenesis, Pulmonary artery stenosis, Congenital pulmonary airway malf...	OMIM:611812
Global Developmental Delay With Speech And Behavioral Abnormalities	Precocious puberty, Micrognathia, Cryptorchidism, Anal atresia	OMIM:619243
Cortical Blindness-Intellectual Disability-Polydactyly Syndrome	Abnormal palate morphology, Short nose, Postaxial hand polydactyly, Microretrognathia, Long philt...	ORPHA:1389
ERI1-related disease	Dislocated radial head, Pectus carinatum, Oligodactyly, Pectus excavatum, Delayed skeletal matura...	OMIM:608739
Kleefstra Syndrome	Hypoplasia of penis, Everted lower lip vermilion, Bicuspid aortic valve, Advanced eruption of tee...	ORPHA:261494
Intellectual Developmental Disorder, Autosomal Dominant 43	Short philtrum, Low hanging columella, Increased overbite, Anteverted nares, Microtia, Attached e...	OMIM:616977
Arthrogryposis, Distal, Type 5D	Hypermobility of distal interphalangeal joints, Limited elbow movement, Hyperlordosis, Adducted t...	OMIM:615065
Mesoaxial Synostotic Syndactyly With Phalangeal Reduction	Clinodactyly of the 5th finger, Short hallux, Metacarpal synostosis, Finger syndactyly, 2-3 toe s...	ORPHA:157801
Nphp3-Related Meckel-Like Syndrome	Pulmonary hypoplasia, Intestinal malrotation, Multicystic kidney dysplasia	ORPHA:3032
Vacterl Association With Hydrocephalus	Stillbirth, Abnormal vertebral morphology, Radial club hand, Abnormality of the vertebral column,...	OMIM:276950
Acheiropody	Fibular aplasia, Aplasia of the ulna, Aplasia of the tarsal bones, Carpal bone aplasia, Absent to...	OMIM:200500
Ivic Syndrome	Hypoplasia of the radius, Triphalangeal thumb, Rectovaginal fistula, Synostosis of carpal bones, ...	ORPHA:2307
Klippel-Feil Syndrome 1, Autosomal Dominant	Mixed hearing impairment, Cervical C2/C3 vertebral fusion, Sensorineural hearing impairment, Scol...	OMIM:118100
Pontocerebellar Hypoplasia, Type 11	Talipes equinovarus, Dysphagia, Anal atresia	OMIM:617695
Cooper-Jabs Syndrome	Reduced bone mineral density, Abnormal hip bone morphology, Proximal placement of thumb, Low-set,...	ORPHA:1488
Rhizomelic Syndrome, Urbach Type	Rhizomelia, Triphalangeal thumb, Abnormal form of the vertebral bodies, Limitation of joint mobil...	ORPHA:3098
Frank-Ter Haar Syndrome	Broad alveolar ridges, Short long bone, Pectus excavatum, Wide mouth, Mitral valve prolapse, Ante...	OMIM:249420
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency	Rocker bottom foot, Abnormal female external genitalia morphology, Abnormal ovarian morphology, A...	ORPHA:95699
Esophageal Atresia	Anorectal anomaly, Bronchitis, Tracheoesophageal fistula, Intestinal malrotation, Dysphagia, Clin...	ORPHA:1199
Endocrine-Cerebroosteodysplasia	Enlarged kidney, Sandal gap, Tibial bowing, Syndactyly, Bilateral cleft lip, Fibular bowing, Hypo...	OMIM:612651
Spinal Muscular Atrophy, Type I	Death in childhood, Respiratory insufficiency, Tongue fasciculations, Respiratory failure, Recurr...	OMIM:253300
Fadd-Related Immunodeficiency	Ventricular septal defect, Pulmonary artery atresia	ORPHA:306550
Intellectual Developmental Disorder, Autosomal Recessive 33	Short toe, Syndactyly	OMIM:614341
Anorectal Anomalies	Rectovaginal fistula, Anal atresia	OMIM:107100
Roifman Syndrome	Biconvex vertebral bodies, Clinodactyly of the 5th finger, Recurrent otitis media, Anteverted nar...	OMIM:616651
Heterotaxy, Visceral, 5, Autosomal	Ureteral duplication, Ureteral stenosis, Intestinal malrotation, Absence of the sacrum, Right atr...	OMIM:270100
Proximal 16P11.2 Microdeletion Syndrome	Abnormal vertebral morphology, Sensorineural hearing impairment, Scoliosis, Pyloric stenosis, Con...	ORPHA:261197
Multiple Epiphyseal Dysplasia Due To Collagen 9 Anomaly	Abnormality of the epiphyses of the elbow, Genu valgum, Ulnar deviated club hands, Arthralgia of ...	ORPHA:166002
Multiple Epiphyseal Dysplasia, Al-Gazali Type	Spindle-shaped finger, Genu valgum, Triangular mouth, Delayed epiphyseal ossification, Pectus exc...	ORPHA:166024
Abruzzo-Erickson Syndrome	Abnormal palate morphology, Hypospadias, Sensorineural hearing impairment, Macrotia, Conductive h...	ORPHA:921
Sponastrime Dysplasia	Kyphoscoliosis, Short long bone, Short dental root, Microdontia, Biconcave vertebral bodies, Apla...	ORPHA:93357
Chromosome 2Q31.1 Duplication Syndrome	Triphalangeal thumb, Absent thumb, Short thumb, 3-4 finger cutaneous syndactyly, Talipes equinovarus	OMIM:613681
Developmental And Epileptic Encephalopathy 73	Short nose, Narrow nasal bridge, Sensorineural hearing impairment, Scoliosis, Delayed skeletal ma...	OMIM:618379
Microcephalic Osteodysplastic Primordial Dwarfism Types I And Iii	Bilateral single transverse palmar creases, Long nose, Aplasia/hypoplasia of the femur, Broad dis...	ORPHA:2636
Endocardial Fibroelastosis	Abnormal palate morphology, Sandal gap, Hypoplasia of penis, Anterior hypopituitarism, Restrictiv...	ORPHA:2022
Fetal Minoxidil Syndrome	Clinodactyly of the 5th finger, Cryptorchidism, Micrognathia, Ventricular septal defect, Depresse...	ORPHA:1918
Contractures, Pterygia, And Spondylocarpotarsal Fusion Syndrome 1B	Tarsal synostosis, Fused cervical vertebrae, Scoliosis, Absent phalangeal crease, Antecubital pte...	OMIM:618469
Blepharocheilodontic Syndrome 1	Conical tooth, Choanal atresia, Anal atresia, Cleft upper lip, Hypodontia, Cutaneous syndactyly, ...	OMIM:119580
Holt-Oram Syndrome	Abnormal clavicle morphology, Triphalangeal thumb, Abnormal metacarpal morphology, Finger syndact...	ORPHA:392
Sirenomelia	Sirenomelia, Tracheoesophageal fistula, Anal atresia, Aplasia/Hypoplasia of the radius, Absence o...	ORPHA:3169
Hirschsprung Disease, Cardiac Defects, And Autonomic Dysfunction	Short nose, Aganglionic megacolon, Tapered finger, Bulbous nose, Prominent nasal bridge, Patent d...	OMIM:613870
Robinow Syndrome, Autosomal Dominant 1	Retrognathia, Radial deviation of finger, Dislocated radial head, Dental crowding, Short long bon...	OMIM:180700
Oculodentodigital Dysplasia	Broad alveolar ridges, Tooth agenesis, Clinodactyly, Taurodontia, Anteverted nares, Carious teeth...	ORPHA:2710
Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency	Wide mouth, Syndactyly, Umbilical hernia, Clinodactyly, Abnormality of the hand, Camptodactyly, H...	ORPHA:369891
Intellectual Developmental Disorder, Autosomal Dominant 52	Cervical C2/C3 vertebral fusion, Short philtrum, Anteverted nares, Sensorineural hearing impairme...	OMIM:617796
Pycnodysostosis	Spondylolysis, Spondylolisthesis, Hypoplastic iliac wing, Hyperlordosis, Kyphosis, Persistent ope...	ORPHA:763
Mandibulofacial Dysostosis With Alopecia	Stenosis of the external auditory canal, Microtia, Dental crowding, Glossoptosis, Low-set ears, E...	OMIM:616367
Spondylodysplastic Ehlers-Danlos Syndrome	Kyphoscoliosis, Subluxation of the small joints of the hand, Abnormal femoral head morphology, Ab...	ORPHA:536471
Cardioacrofacial Dysplasia 2	Left superior vena cava draining to coronary sinus, Atrioventricular canal defect, Clinodactyly o...	OMIM:619143
Ventricular Extrasystoles With Syncopal Episodes-Perodactyly-Robin Sequence Syndrome	Short 4th metacarpal, High, narrow palate, Joint dislocation, Hypodontia, Tapered finger, Glossop...	ORPHA:3201
Orofaciodigital Syndrome I	Radial deviation of finger, Abnormal heart morphology, Ovarian cyst, Syndactyly, Tongue nodules, ...	OMIM:311200
Mucopolysaccharidosis, Type Ivb	Cervical myelopathy, Hyperlordosis, Kyphosis, Joint stiffness, Constricted iliac wing, Wide mouth...	OMIM:253010
Syndactyly Type 3	Finger syndactyly, Camptodactyly of finger, Short toe	ORPHA:93404
Dyggve-Melchior-Clausen Disease	Narrow greater sciatic notch, Multicentric ossification of proximal humeral epiphyses, Cone-shape...	OMIM:223800
Frontometaphyseal Dysplasia 2	Dislocated radial head, Sensorineural hearing impairment, Abnormal pinna morphology, Short metaca...	OMIM:617137
Multiple Osteochondromas	Intestinal obstruction, Cervical myelopathy, Limitation of knee mobility, Abnormal femur morpholo...	ORPHA:321
Aphalangy-Syndactyly-Microcephaly Syndrome	Abnormal metacarpal morphology, Split foot, Camptodactyly of finger, Aplasia/Hypoplasia of the di...	ORPHA:1113
Jeune Syndrome	Abnormal metaphysis morphology, Abnormal clavicle morphology, Narrow chest, Respiratory insuffici...	ORPHA:474
Lung Agenesis-Heart Defect-Thumb Anomalies Syndrome	Abnormal lung lobation, Bilateral single transverse palmar creases, Abnormal thumb morphology, At...	ORPHA:1120
Chromosome 3Pter-P25 Deletion Syndrome	Gastroesophageal reflux, High palate, Anal atresia, Postaxial polydactyly, Micrognathia, Overlapp...	OMIM:613792
Lethal Recessive Chondrodysplasia	Narrow chest, Short long bone, Flared elbow metaphyses, Micromelia, Accelerated skeletal maturati...	ORPHA:1423
Craniofacial-Deafness-Hand Syndrome	Short nose, Abnormality of the wrist, Narrow mouth, Depressed nasal ridge, Hypoplasia of the maxi...	ORPHA:1529
3-Hydroxyisobutyric Aciduria	Long philtrum, Micrognathia, Microtia, Hypogonadotropic hypogonadism	ORPHA:939
Trisomy 1Q	Congenital megaureter, Anal atresia, Arachnodactyly, Camptodactyly of finger, Hydronephrosis, Cle...	ORPHA:261344
Ulnar Hypoplasia-Split Foot Syndrome	Hypoplasia of the ulna, Split foot, Split hand, Aplasia/Hypoplasia of the radius	ORPHA:1122
Corpus Callosum, Agenesis Of, With Facial Anomalies And Robin Sequence	Proximal placement of thumb, Abnormal pinna morphology, Syndactyly, Clinodactyly, Tracheal stenos...	OMIM:217980
Schilbach-Rott Syndrome	Long nose, 2-3 toe cutaneous syndactyly, Hypospadias, 3-4 finger cutaneous syndactyly, Microtia, ...	OMIM:164220
Wiedemann-Rautenstrauch Syndrome	Narrow nasal ridge, Small earlobe, Short humerus, Hypoplastic facial bones, Long philtrum, Long t...	OMIM:264090
Symbrachydactyly Of Hands And Feet	Aplasia/Hypoplasia of the thumb, Scoliosis, Vertebral segmentation defect, Abnormality of the hum...	ORPHA:1570
Chromosome 15Q14 Deletion Syndrome	Atrial septal defect, Short philtrum, Recurrent viral upper respiratory tract infections, Everted...	OMIM:616898
Acrootoocular Syndrome	Kyphoscoliosis, Wide nasal base, Abnormal earlobe morphology, Sandal gap, Sensorineural hearing i...	ORPHA:2980
22Q11.2 Duplication Syndrome	Transposition of the great arteries, Wide nose, Interrupted aortic arch, Depressed nasal ridge, A...	ORPHA:1727
Cardiac-Urogenital Syndrome	Enlarged kidney, Mesocardia, Coronary sinus enlargement, Intestinal malrotation, Dysplastic tricu...	OMIM:618280
Adams-Oliver Syndrome	Gastrointestinal hemorrhage, Arteriovenous malformation, Abnormal metacarpal morphology, Finger s...	ORPHA:974
Melnick-Needles Syndrome	Cone-shaped epiphyses of the phalanges of the hand, Short distal phalanx of finger, Joint hypermo...	ORPHA:2484
Cardiomyopathy, Dilated, 1S	Perimembranous ventricular septal defect, Ebstein anomaly of the tricuspid valve, Pulmonary arter...	OMIM:613426
Cornelia De Lange Syndrome 6	Short nose, Long philtrum, Clinodactyly of the 5th finger, Anteverted nares, Scoliosis, Pectus ca...	OMIM:620568
Proximal 16P11.2 Microduplication Syndrome	Scoliosis, Hemivertebrae, Microtia, Arachnodactyly, Smooth philtrum, Micropenis, Thin upper lip v...	ORPHA:370079
X-Linked Intellectual Disability, Nascimento Type	Wide mouth, Overlapping toe, Neutropenia, Hypospadias, Patent foramen ovale, Cryptorchidism, Pate...	ORPHA:163956
Duplication Of Urethra	Clitoral hypertrophy, Urinary incontinence, Anorectal anomaly, Bifid scrotum, Anal fistula, Septa...	ORPHA:237
Van Esch-O'Driscoll Syndrome	Short nose, Retrognathia, Sacral dimple, Clinodactyly of the 5th finger, Esophageal atresia, Spin...	OMIM:301030
Congenital Tufting Enteropathy	Cholestatic liver disease, Abnormal large intestinal mucosa morphology, Steatorrhea, Elevated fec...	ORPHA:92050
Trisomy 8P	Retrognathia, Clinodactyly of the 5th toe, Clinodactyly of the 2nd finger, Bifid uvula, Nephrocal...	ORPHA:264450
Vertebral Anomalies And Variable Endocrine And T-Cell Dysfunction	Narrow palate, Atrial septal defect, Contracture of the proximal interphalangeal joint of the 4th...	OMIM:618223
Pfeiffer Syndrome Type 3	Short hallux, Finger syndactyly, Vesicoureteral reflux, High palate, Short foot, Anal atresia, In...	ORPHA:93260
Rhizomelic Skeletal Dysplasia With Or Without Pelger-Huet Anomaly	Hyperlordosis, Femoral bowing, Short long bone, Kyphosis, Thoracic hypoplasia, Metaphyseal irregu...	OMIM:618019
Spondyloepimetaphyseal Dysplasia, Matrilin-3 Type	Limited elbow extension, Pectus excavatum, Limb undergrowth, Enlarged joints, Thoracic hypoplasia...	ORPHA:156728
Fanconi Anemia, Complementation Group L	Hypoplastic sacrum, Esophageal atresia, Microtia, Aplasia of the uterus, Low-set ears, Tracheoeso...	OMIM:614083
Dyggve-Melchior-Clausen Disease	Abnormal hip bone morphology, Abnormal femoral head morphology, Pectus carinatum, Short long bone...	ORPHA:239
Cryptorchidism-Arachnodactyly-Intellectual Disability Syndrome	Bilateral single transverse palmar creases, Hypospadias, Abnormality of the dentition, Abnormal t...	ORPHA:1548
Opitz Gbbb Syndrome	Rectourethral fistula, Solitary median maxillary central incisor, Hypospadias, Gastroesophageal r...	OMIM:300000
Multiple Epiphyseal Dysplasia, Beighton Type	Lumbar platyspondyly, Abnormal hand metaphysis morphology, Joint stiffness, Biconcave vertebral b...	ORPHA:166011
Orofaciodigital Syndrome Type 10	Retrognathia, Mesomelic arm shortening, Oligodactyly, Prominent calcaneus, Long philtrum, Accesso...	ORPHA:2756
Heart Defects, Congenital, And Other Congenital Anomalies	Ureteral duplication, Microcolon, Pulmonic stenosis, Intestinal malrotation, Perimembranous ventr...	OMIM:600001
Spondyloepimetaphyseal Dysplasia, Sponastrime Type	Kyphoscoliosis, Delayed ossification of carpal bones, Short dental root, Biconcave vertebral bodi...	OMIM:271510
Congenital Myopathy 14	Elbow flexion contracture, High palate, Death in infancy, Hip contracture, Respiratory insufficie...	OMIM:618414
Microcephaly, Facial Dysmorphism, Renal Agenesis, And Ambiguous Genitalia Syndrome	Retrognathia, Preaxial polydactyly, Unilateral renal agenesis, Ventricular septal defect, High pa...	OMIM:618142
Stapes Ankylosis With Broad Thumbs And Toes	Long nose, Fused cervical vertebrae, Low hanging columella, Proximal/middle symphalangism of 5th ...	OMIM:184460
Carpenter Syndrome 1	Flared iliac wing, Agenesis of permanent teeth, Pulmonic stenosis, Duplication of the proximal ph...	OMIM:201000
Microcephaly With Cervical Spine Fusion Anomalies	Spinal instability, Vertebral fusion	OMIM:251250
Blue Rubber Bleb Nevus	Rectal prolapse, Volvulus, Intestinal bleeding, Abnormality of the liver, Intussusception	OMIM:112200
Combined Oxidative Phosphorylation Deficiency 8	Cardiomegaly, Pulmonary hypoplasia, Hypertrophic cardiomyopathy	OMIM:614096
Adenylosuccinate Lyase Deficiency	Short nose, Anteverted nares, Smooth philtrum, Long philtrum, Thin upper lip vermilion	ORPHA:46
Keipert Syndrome	Broad distal phalanx of finger, Clinodactyly of the 5th finger, Short hallux, Sensorineural heari...	ORPHA:2662
Thanatophoric Dysplasia Type 2	Abnormal metaphysis morphology, Platyspondyly, Encephalocele, Narrow chest, Respiratory insuffici...	ORPHA:93274
Geleophysic Dysplasia 3	Limited elbow movement, Long philtrum, Anteverted nares, Short foot, Epiphyseal dysplasia, Delaye...	OMIM:617809
Acrodysostosis 2 With Or Without Hormone Resistance	Short nose, Hypospadias, Short metatarsal, Anteverted nares, Mandibular prognathia, Short metacar...	OMIM:614613
Alpha-Mannosidosis	Chronic otitis media, Kyphosis, Delayed skeletal maturation, Narrow palate, Craniofacial hyperost...	ORPHA:61
Char Syndrome	Clinodactyly of the 5th finger, Short philtrum, Triangular mouth, Ventricular septal defect, Ever...	ORPHA:46627
Meier-Gorlin Syndrome 4	Lateral clavicle hook, Thick lower lip vermilion, Emphysema, Slender long bone, Genu recurvatum, ...	OMIM:613804
Auriculocondylar Syndrome 2A	Short mandibular rami, Mandibular condyle hypoplasia, Stenosis of the external auditory canal, Te...	OMIM:614669
Spondylometaphyseal Dysplasia, A4 Type	Limitation of joint mobility, Coxa vara, Micromelia, Short palm, Flared, irregular rib ends, Plat...	ORPHA:168555
Mesomelic Dysplasia, Kantaputra Type	Abnormal fibula morphology, Tarsal synostosis, Cubitus valgus, Clinodactyly of the 5th finger, Ta...	ORPHA:1836
Alpha-Thalassemia-Intellectual Disability Syndrome Linked To Chromosome 16	Retrognathia, Hypospadias, Low-set, posteriorly rotated ears, Aplasia/Hypoplasia of the earlobes,...	ORPHA:98791
2Q32Q33 Microdeletion Syndrome	Convex nasal ridge, Thin vermilion border, Clinodactyly of the 5th finger, Dental crowding, Oligo...	ORPHA:251019
Wiedemann-Steiner Syndrome	Delayed skeletal maturation, Accelerated skeletal maturation, Contracture of the distal interphal...	OMIM:605130
Ehlers-Danlos Syndrome, Musculocontractural Type, 2	Short nose, Dental crowding, Patent foramen ovale, Narrow mouth, High palate, Camptodactyly, Bila...	OMIM:615539
Achondrogenesis, Type Ib	Absent or minimally ossified vertebral bodies, Stillbirth, Narrow chest, Respiratory insufficienc...	OMIM:600972
Atelis Syndrome 1	Long philtrum, Lumbar kyphosis, Microtia, High palate, Bronchiectasis, Carious teeth, Prominent n...	OMIM:620184
Arms, Malformation Of	Hypoplasia of the ulna, Hypoplasia of the radius, Radioulnar synostosis	OMIM:107900
Klippel-Feil Syndrome 2, Autosomal Recessive	Fused cervical vertebrae, Cervical C2/C3 vertebral fusion, Sensorineural hearing impairment, Scol...	OMIM:214300
Terminal Osseous Dysplasia-Pigmentary Defects Syndrome	Osteolysis involving bones of the lower limbs, Osteolysis involving bones of the upper limbs, Pat...	ORPHA:88630
Braddock-Carey Syndrome 1	Multicystic kidney dysplasia, Talipes equinovarus, Anteverted nares, Everted lower lip vermilion,...	OMIM:619980
Cutis Laxa, Autosomal Recessive, Type Iie	Thick lower lip vermilion, Deep palmar crease, Clinodactyly of the 5th finger, High palate, Pectu...	OMIM:619451
Dihydropyrimidinase Deficiency	Uraciluria, Elevated urinary dihydrothymine level, Elevated urinary dihydrouracil level, Elevated...	OMIM:222748
Meckel Syndrome 14	Pneumothorax, Retrognathia, Polycystic kidney dysplasia, Anteverted nares, Postaxial hand polydac...	OMIM:619879
Diphallia	Penoscrotal transposition, Epispadias, Ureteral duplication, Bifid penis, Hypospadias, Abnormalit...	ORPHA:227
Fibular Aplasia Or Hypoplasia, Femoral Bowing And Poly-, Syn-, And Oligodactyly	Aplasia/hypoplasia of the femur, Hypoplastic iliac wing, Femoral bowing, Hypoplastic pelvis, Apla...	OMIM:228930
Holoprosencephaly-Radial Heart Renal Anomalies Syndrome	Hypoplasia of the ulna, Hypoplasia of the radius, Orofacial cleft, Aplasia/Hypoplasia of the thum...	ORPHA:3186
Osteogenesis Imperfecta, Type Ii	Absent ossification of calvaria, Platyspondyly, Bell-shaped thorax, Crumpled long bones, Respirat...	OMIM:166210
Wahab Syndrome	Short metacarpal, Camptodactyly, Short palm, Clinodactyly, Short thumb, Syndactyly, Adducted thum...	OMIM:615170
Charge Syndrome	Mixed hearing impairment, Sensorineural hearing impairment, Microtia, Anosmia, Absent tibia, Trac...	OMIM:214800
Apert Syndrome	Sensorineural hearing impairment, Broad thumb, Bifid uvula, Narrow palate, Ovarian neoplasm, Apla...	ORPHA:87
Imagawa-Matsumoto Syndrome	Polymicrogyria, Camptodactyly, Large hands, Cryptorchidism, Anteriorly placed anus, Clinodactyly	OMIM:618786
Pagod Syndrome	Situs inversus totalis, Abnormal aortic morphology, Abnormal testis morphology, Pulmonary artery ...	ORPHA:991
Orofaciodigital Syndrome Xi	Gastroesophageal reflux, Postaxial polydactyly, Hypoplasia of the odontoid process, Cleft palate,...	OMIM:612913
Developmental And Epileptic Encephalopathy 89	Clitoral hypertrophy, Death in childhood, Asymmetry of the ears, Talipes equinovarus, Narrow ches...	OMIM:619124
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 1	Retrognathia, Clinodactyly of the 5th finger, Oligodactyly, Bifid nasal tip, Short foot, Renal hy...	OMIM:619758
Pfeiffer Syndrome Type 2	Deviation of the thumb, Short hallux, Finger syndactyly, High palate, Anal atresia, Intestinal ma...	ORPHA:93259
Osteogenesis Imperfecta, Type X	Tibial bowing, Dentinogenesis imperfecta, Thoracic hypoplasia, Joint hypermobility, Broad ribs, R...	OMIM:613848
Adactylia, Unilateral	Adactyly, Short thumb	OMIM:102650
Ulna Metaphyseal Dysplasia Syndrome	Abnormal metaphysis morphology, Abnormal fibula morphology, Abnormal hip bone morphology, Abnorma...	ORPHA:1837
Cornelia De Lange Syndrome 5	Retrognathia, Proximal placement of thumb, Hypogonadism, Long philtrum, Anteverted nares, Cleft p...	OMIM:300882
Orofaciodigital Syndrome Type 1	Broad alveolar ridges, Accessory oral frenulum, Tongue nodules, Cone-shaped epiphysis, Lip pit, T...	ORPHA:2750
Spondyloepimetaphyseal Dysplasia, Borochowitz-Cormier-Daire Type	Limited elbow extension, Narrow greater sciatic notch, Irregular epiphyses, Dysplastic iliac wing...	OMIM:608728
Congenital Alveolar Capillary Dysplasia	Annular pancreas, Aganglionic megacolon, Anal atresia, Tracheoesophageal fistula, Intestinal malr...	ORPHA:210122
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate	Widely spaced teeth, Palmoplantar keratoderma, Hypospadias, Bilateral choanal atresia, Conical to...	OMIM:106260
Heart-Hand Syndrome, Slovenian Type	Aplasia of the middle phalanx of the hand, Brachydactyly, Syndactyly, Dilated cardiomyopathy, Cli...	OMIM:610140
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome	Narrow greater sciatic notch, Long nose, Limited elbow movement, Enlarged metaphyses, Short metac...	ORPHA:508533
X-Linked Intellectual Disability, Van Esch Type	Retrognathia, Retractile testis, Male hypogonadism, Clinodactyly of the 5th finger, Microtia, Hyp...	ORPHA:163976
Rhiny	Thin vermilion border, Short nose, Anteverted nares	OMIM:180360
Seckel Syndrome 5	Retrognathia, Clitoral hypertrophy, Clinodactyly of the 5th finger, Hypospadias, 11 pairs of ribs...	OMIM:613823
Micrognathia-Recurrent Infections-Behavioral Abnormalities-Mild Intellectual Disability Syndrome	Abnormality of the hand, Short nose, Urinary incontinence, Clinodactyly of the 5th finger, Dental...	ORPHA:476126
Mckusick-Kaufman Syndrome	Transverse vaginal septum, Hydrometrocolpos, Aganglionic megacolon, Hydroureter, Rectovaginal fis...	OMIM:236700
Intellectual Disability-Myopathy-Short Stature-Endocrine Defect Syndrome	Abnormal palate morphology, Clinodactyly of the 5th finger, Abnormal hip bone morphology, Craniof...	ORPHA:3068
Meacham Syndrome	Congenital alveolar dysplasia, Enlarged kidney, Transposition of the great arteries, Partial anom...	OMIM:608978
Peroxisome Biogenesis Disorder 1A (Zellweger)	Rocker bottom foot, Renal cortical microcysts, Dysphagia, Hypospadias, Anteverted nares, Ulnar de...	OMIM:214100
Genitopalatocardiac Syndrome	Hypospadias, Non-midline cleft of the upper lip, Postaxial hand polydactyly, Downturned corners o...	ORPHA:2075
Moebius Syndrome	Radial deviation of finger, Bifid uvula, Dysphagia, Syndactyly, Abnormal nasopharynx morphology, ...	OMIM:157900
Global Developmental Delay-Alopecia-Macrocephaly-Facial Dysmorphism-Structural Brain Anomalies Syndrome	Retrognathia, Sacral dimple, Clinodactyly of the 5th finger, Tapered toe, Sensorineural hearing i...	ORPHA:544488
Meckel Syndrome, Type 1	Radial deviation of finger, Intestinal malrotation, Wide mouth, Syndactyly, Splenomegaly, Clinoda...	OMIM:249000
Cardiospondylocarpofacial Syndrome	Hypoplastic nasal tip, Delayed skeletal maturation, Wide mouth, Congenital sensorineural hearing ...	OMIM:157800
Marshall Syndrome	Small proximal tibial epiphyses, Sensorineural hearing impairment, Bifid uvula, Irregular femoral...	OMIM:154780
Diabetes Insipidus, Neurohypophyseal	Short nose, Central diabetes insipidus, Wide nose, Long philtrum, Decreased circulating osteocalc...	OMIM:125700
Fanconi Anemia, Complementation Group B	Abnormal lung lobation, Abnormal vertebral morphology, Esophageal atresia, Low-set ears, Tracheoe...	OMIM:300514
Cleft Lip/Palate-Ectodermal Dysplasia Syndrome	Palmoplantar hyperkeratosis, Abnormality of the philtrum, Microdontia, Cleft upper lip, Micrognat...	OMIM:225060
Spinal Muscular Atrophy With Congenital Bone Fractures 1	Patent foramen ovale, Narrow mouth, Cardiomyopathy, High palate, Secundum atrial septal defect, P...	OMIM:616866
Aphalangia, Partial, With Syndactyly And Duplication Of Metatarsal Iv	Kyphoscoliosis, Cutaneous finger syndactyly, Syndactyly, Aplasia/Hypoplasia of toe, Duplication o...	OMIM:600384
Craniofacioskeletal Syndrome	Clinodactyly of the 5th finger, Hypospadias, Barrel-shaped chest, Short philtrum, Tracheal stenos...	OMIM:300712
Blepharonasofacial Malformation Syndrome	Wide nose, Finger syndactyly, Non-midline cleft of the upper lip, Tooth agenesis, Cleft palate, L...	ORPHA:1252
Nablus Mask-Like Facial Syndrome	Retrognathia, Sandal gap, Small earlobe, Everted lower lip vermilion, Long philtrum, Craniosynost...	OMIM:608156
Syndactyly Type 5	Clinodactyly of the 5th finger, Metacarpal synostosis, 2-3 toe syndactyly, Camptodactyly of finge...	ORPHA:93406
Spondyloepimetaphyseal Dysplasia, Strudwick Type	Narrow greater sciatic notch, Genu valgum, Delayed pubic bone ossification, Metaphyseal dappling,...	OMIM:184250
Dysostosis, Stanescu Type	Hyperlordosis, Pectus excavatum, Kyphosis, Tooth agenesis, Persistent open anterior fontanelle, M...	ORPHA:1798
Intellectual Developmental Disorder, X-Linked, Syndromic, Siderius Type	Long toe, Arachnodactyly, Cleft palate, Large hands, Broad nasal tip, Cleft lip	OMIM:300263
Cornelia De Lange Syndrome 2	Limited elbow movement, Proximal placement of thumb, Gastroesophageal reflux, Anteverted nares, H...	OMIM:300590
16P13.11 Microduplication Syndrome	Transposition of the great arteries, Pectus excavatum, Arachnodactyly, Coarctation of aorta, Hand...	ORPHA:261243
Linear Skin Defects With Multiple Congenital Anomalies 2	Short nose, Sandal gap, Ventricular hypertrophy, Tetralogy of Fallot, Long philtrum, Atrial septa...	OMIM:300887
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Microdeletion	Retrognathia, Wrist flexion contracture, Pectus excavatum, Flexion contracture of finger, Thoraci...	ORPHA:254528
Rhizomelic Limb Shortening With Dysmorphic Features	Rhizomelia, Clinodactyly of the 3rd finger, Hyperextensibility of the finger joints, Patent foram...	OMIM:618821
Pentasomy X	Delayed puberty, Clinodactyly of the 5th finger, Abnormal cardiac septum morphology, Radioulnar s...	ORPHA:11
Cardiomyopathy, Dilated, With Hypergonadotropic Hypogonadism	Osteopenia, Retrognathia, Short clavicles, Microtia, Recurrent shoulder dislocation, Finger joint...	OMIM:212112
Arthrogryposis, Distal, Type 2B2	Sandal gap, Tapered finger, Narrow mouth, Camptodactyly, Metatarsus adductus, Clinodactyly, Short...	OMIM:618435
Coxoauricular Syndrome	Reduced bone mineral density, Abnormal femur morphology, Microtia, Abnormal pelvic girdle bone mo...	ORPHA:1508
Thoc6-Related Developmental Delay-Microcephaly-Facial Dysmorphism Syndrome	Premature ovarian insufficiency, Unilateral renal agenesis, Hypospadias, Endometriosis, Anal atre...	ORPHA:363444
Microphthalmia With Cyst, Bilateral Facial Clefts, And Limb Anomalies	Tessier cleft, High, narrow palate, Choanal atresia, Depressed nasal ridge, Cleft upper lip, Clef...	OMIM:607597
Cervical Vertebrae, Agenesis Of	Cervical vertebral agenesis	OMIM:214290
Diamond-Blackfan Anemia 1	Retrognathia, Hypoplastic coccygeal vertebrae, Absent thumb, Hypoplastic sacral vertebrae, Hypopl...	OMIM:105650
Abnormal Origin Of Right Or Left Pulmonary Artery From The Aorta	Arteria lusoria, Anomalous origin of left pulmonary artery from ascending aorta, Transposition of...	ORPHA:99050
Ogden Syndrome	Left atrial enlargement, Everted upper lip vermilion, Enlarged kidney, Sandal gap, Bifid nasal ti...	OMIM:300855
Ogden Syndrome	High, narrow palate, Everted upper lip vermilion, Cryptorchidism, Pulmonary artery stenosis, Broa...	ORPHA:276432
Mucopolysaccharidosis Type 4	Reduced bone mineral density, Pectus carinatum, Hyperlordosis, Kyphosis, Delayed skeletal maturat...	ORPHA:582
Hemifacial Microsomia With Radial Defects	Short mandibular rami, Orofacial cleft, Triphalangeal thumb, Non-midline cleft of the upper lip, ...	OMIM:141400
Cayler Cardiofacial Syndrome	Ventricular septal defect, Tetralogy of Fallot, Patent ductus arteriosus	OMIM:125520
Neurodevelopmental Disorder With Hypotonia And Brain Abnormalities	Hypoplastic coccygeal vertebrae, Dislocated radial head, Narrow nasal ridge, Sensorineural hearin...	OMIM:619512
Rapp-Hodgkin Syndrome	Decreased number of sweat glands, Microdontia, Bifid uvula, Syndactyly, Small, conical teeth, Nar...	OMIM:129400
Intellectual Developmental Disorder, Autosomal Recessive 79	Clinodactyly of the 5th finger, Short hallux, Slender finger, Long fingers, Broad nasal tip, Smoo...	OMIM:620393
Smith-Lemli-Opitz Syndrome	Proximal placement of thumb, Hypoplasia of penis, Tooth agenesis, Mesomelia, Wide mouth, Long phi...	ORPHA:818
Congenital Disorder Of Glycosylation, Type Iu	Short nose, Scoliosis, High palate, Congenital contracture, Death in infancy, Micrognathia, Neona...	OMIM:615042
Toe Syndactyly, Telecanthus, And Anogenital And Renal Malformations	Bicuspid aortic valve, Narrow nose, Pelvic kidney, Patent foramen ovale, 4-5 toe syndactyly, Broa...	OMIM:300707
Primary Microcephaly-Mild Intellectual Disability-Young-Onset Diabetes Syndrome	Kyphoscoliosis, Sensorineural hearing impairment, Pectus excavatum, Long philtrum, Joint hypermob...	ORPHA:391408
German Syndrome	Orofacial cleft, High palate, Everted lower lip vermilion, Camptodactyly of finger, Micrognathia,...	ORPHA:2077
Anonychia-Onychodystrophy With Hypoplasia Or Absence Of Distal Phalanges	Shortening of all distal phalanges of the toes, Short philtrum, High palate, Shortening of all di...	OMIM:106995
Posterior Fusion Of Lumbosacral Vertebrae-Blepharoptosis Syndrome	Sacral dimple, Posterior fusion of lumbosacral vertebrae, Tarsal synostosis, Abnormal form of the...	ORPHA:2064
Hall-Riggs Syndrome	Abnormal metaphysis morphology, Platyspondyly, Delayed eruption of teeth, Anteverted nares, Scoli...	ORPHA:2107
Acrorenal Syndrome	Finger aplasia	OMIM:102520
Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency	Broad distal phalanx of finger, Abnormal oral frenulum morphology, Intestinal malrotation, Bifid ...	ORPHA:404440
Monosomy 5P	Finger syndactyly, High palate, Microretrognathia, Wide nasal bridge, Small hand	ORPHA:281
Acropectorovertebral Dysplasia	Abnormal vertebral morphology, Spina bifida occulta at L5, Finger syndactyly, Synostosis of carpa...	OMIM:102510
Pfeiffer Syndrome	Short nose, 3-4 toe cutaneous syndactyly, Shortening of all middle phalanges of the fingers, Dent...	OMIM:101600
Fibrochondrogenesis	Abnormal metaphysis morphology, Hearing abnormality, Abnormal diaphysis morphology, Bell-shaped t...	ORPHA:2021
Camptosynpolydactyly, Complex	Polydactyly, Cutaneous syndactyly, Syndactyly, Camptodactyly	OMIM:607539
Meier-Gorlin Syndrome 5	Slender long bone, Small earlobe, Microtia, Low-set ears, Cryptorchidism, Prominent metopic ridge...	OMIM:613805
Roberts Syndrome	Bilateral single transverse palmar creases, Clitoral hypertrophy, Radial deviation of finger, Mes...	ORPHA:3103
Spinal Muscular Atrophy With Congenital Bone Fractures 2	Patent foramen ovale, Pulmonary hypoplasia, Dysphagia, Patent ductus arteriosus	OMIM:616867
Stickler Syndrome Type 1	Short nose, Long philtrum, Abnormal vertebral epiphysis morphology, Sensorineural hearing impairm...	ORPHA:90653
Chromosome 17P13.3, Telomeric, Duplication Syndrome	Finger symphalangism, Contracture of the proximal interphalangeal joint of the 4th finger, Absent...	OMIM:612576
Mandibulofacial Dysostosis, Guion-Almeida Type	Short nose, Esophageal atresia, Proximal placement of thumb, Anteverted nares, Choanal atresia, S...	OMIM:610536
Edinburgh Malformation Syndrome	Short nose, Thin vermilion border, Respiratory insufficiency, Anteverted nares, Low-set ears, Cho...	ORPHA:1895
Thanatophoric Dysplasia, Type Ii	Narrow chest, Short greater sciatic notch, Flared metaphysis, Respiratory insufficiency, Wide-cup...	OMIM:187601
Microphthalmia, Syndromic 3	Butterfly vertebrae, Hypospadias, Esophageal atresia, Sensorineural hearing impairment, Hemiverte...	OMIM:206900
Cardiocranial Syndrome, Pfeiffer Type	High, narrow palate, Deep palmar crease, Hypospadias, Temporomandibular joint ankylosis, Slender ...	ORPHA:2872
Joubert Syndrome 26	Decreased response to growth hormone stimulation test, Anteverted nares, Panhypopituitarism, Cent...	OMIM:616784
Menke-Hennekam Syndrome 1	Everted upper lip vermilion, Sandal gap, Agenesis of permanent teeth, Short ear, Prominent inferi...	OMIM:618332
Partial Atrioventricular Septal Defect	Abnormal tricuspid valve morphology, Bacterial endocarditis, Coronary sinus enlargement, Transien...	ORPHA:1330
Feingold Syndrome Type 1	Gastrointestinal atresia, Clinodactyly of the 5th finger, Esophageal atresia, 2-3 toe syndactyly,...	ORPHA:391641
Syndactyly, Type Iv	Polydactyly, Triphalangeal thumb, 6 metacarpals, 2-3 toe syndactyly, 1-5 finger syndactyly, Posta...	OMIM:186200
Oeis Complex	Ambiguous genitalia, male, Intestinal malrotation, Absence of the sacrum, Labial hypoplasia, Pelv...	OMIM:258040
Non-Distal Duplication 13Q	Short nose, Thin vermilion border, Narrow chest, Aplasia/Hypoplasia of the earlobes, Abnormal ant...	ORPHA:1702
Bardet-Biedl Syndrome 5	Polydactyly, Syndactyly, Hypogonadism, Brachydactyly, Micropenis	OMIM:615983
Marshall-Smith Syndrome	Kyphoscoliosis, Short mandibular rami, Retrognathia, Prominent fingertip pads, Glossoptosis, Pect...	OMIM:602535
Facial Paresis, Hereditary Congenital, 3	Short nose, Short philtrum, Anteverted nares, High palate, Downturned corners of mouth, Micrognat...	OMIM:614744
Galloway-Mowat Syndrome 7	Stage 5 chronic kidney disease, Cubitus valgus, Minimal change glomerulonephritis, Hallux valgus,...	OMIM:618348
Buratti-Harel Syndrome	Clinodactyly of the 5th finger, Hypospadias, Microtia, High palate, Low-set ears, Broad thumb, Ve...	OMIM:619314
Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome	Sensorineural hearing impairment, Scoliosis, Respiratory insufficiency due to muscle weakness, Re...	ORPHA:2590
Holzgreve Syndrome	Abnormal metacarpal morphology, Low-set, posteriorly rotated ears, Abnormally ossified vertebrae,...	ORPHA:2167
Glutamine Deficiency, Congenital	Short nose, Thin vermilion border, Recurrent respiratory infections, Anteverted nares, Low-set ea...	OMIM:610015
Pseudodiastrophic Dysplasia	Rhizomelia, Talipes equinovarus, Anteverted nares, Scoliosis, Camptodactyly, Micrognathia, Hypopl...	OMIM:264180
Spondyloepiphyseal Dysplasia Congenita	Limited elbow movement, Cervical myelopathy, Delayed pubic bone ossification, Limitation of knee ...	OMIM:183900
Cataracts, Growth Hormone Deficiency, Sensory Neuropathy, Sensorineural Hearing Loss, And Skeletal Dysplasia	Sensorineural hearing impairment, Hyperlordosis, Short long bone, Metaphyseal irregularity, Joint...	OMIM:616007
Mitochondrial Myopathy And Sideroblastic Anemia	Delayed puberty, Short nose, Anemia, High palate, Micrognathia, Long philtrum	ORPHA:2598
Meier-Gorlin Syndrome 2	Clitoral hypertrophy, Tracheomalacia, Labial hypoplasia, Slender long bone, Abnormal pinna morpho...	OMIM:613800
Apert Syndrome	Chronic otitis media, Limited elbow movement, Pectus carinatum, Broad thumb, Bifid uvula, Syndact...	OMIM:101200
Chromosome 15Q25 Deletion Syndrome	Thin vermilion border, Dextrocardia, Macrocytic anemia, Coronary artery fistula, Dilatation of re...	OMIM:614294
Neurodevelopmental Disorder With Hypotonia, Stereotypic Hand Movements, And Impaired Language	Short nose, Clinodactyly of the 5th finger, Short philtrum, Single transverse palmar crease, 2-3 ...	OMIM:613443
Sheldon-Hall Syndrome	Bilateral single transverse palmar creases, Overlapping fingers, Adducted thumb, Tarsal synostosi...	ORPHA:1147
Keutel Syndrome	Wide nose, Underdeveloped nasal alae, Pulmonary artery stenosis, Recurrent sinusitis, Short dista...	ORPHA:85202
Congenital Myopathy 22B, Severe Fetal	Retrognathia, Short nose, Tapered toe, Short philtrum, Triangular mouth, Slender long bone, Denta...	OMIM:620369
Gaucher Disease, Perinatal Lethal	Retrognathia, Everted upper lip vermilion, Short nose, Anemia, Anteverted nares, Narrow mouth, Ev...	OMIM:608013
Nephrotic Syndrome, Type 11	Stage 5 chronic kidney disease, Minimal change glomerulonephritis, High palate, Focal segmental g...	OMIM:616730
Congenital Hypotonia, Epilepsy, Developmental Delay, And Digital Anomalies	Prominent fingertip pads, Abnormal heart morphology, Dysphagia, Long philtrum, Overlapping toe, P...	OMIM:618494
Coxoauricular Syndrome	Hearing impairment, Microtia, Hip dislocation	OMIM:122780
Lujan-Fryns Syndrome	Short philtrum, Dental crowding, High palate, Abnormality of the dentition, Pectus excavatum, Hyp...	ORPHA:776
Autosomal Dominant Otospondylomegaepiphyseal Dysplasia	Abnormal metacarpal morphology, Sensorineural hearing impairment, Pectus carinatum, Glossoptosis,...	ORPHA:166100
Global Developmental Delay With Or Without Impaired Intellectual Development	Hypospadias, Oligodontia, Pulmonary sequestration, Pectus excavatum, Bulbous nose, Patent ductus ...	OMIM:618330
Mitochondrial Complex I Deficiency, Nuclear Type 35	Pulmonary hypoplasia, Elevated urinary 4-hydroxybutyric acid, Cardiomyopathy, Lacticaciduria	OMIM:619003
Tetralogy Of Fallot	Tetralogy of Fallot, Clinodactyly of the 5th finger	OMIM:187500
Weiss-Kruszka Syndrome	Short nose, Clinodactyly of the 5th finger, Proximal placement of thumb, Anteverted nares, Microt...	OMIM:618619
Lowry-Maclean Syndrome	Retrognathia, High, narrow palate, Atrioventricular canal defect, Short nose, Hypospadias, Midgut...	ORPHA:2409
Parenti-Mignot Neurodevelopmental Syndrome	Short philtrum, Prominent nasal tip, Microtia, Low-set ears, Micrognathia, Prominent nasal bridge...	OMIM:619873
Neuralgic Amyotrophy	Narrow mouth, Scapular winging, Upper limb amyotrophy, Bifid uvula, Cleft palate, Syndactyly	ORPHA:2901
Kagami-Ogata Syndrome	Kyphoscoliosis, Respiratory failure requiring assisted ventilation, Large placenta, Bell-shaped t...	ORPHA:254519
Meckel Syndrome, Type 6	Talipes equinovarus, Postaxial hand polydactyly, Renal cyst, Bile duct proliferation, Cleft upper...	OMIM:612284
Mosaic Trisomy 20	Retrognathia, Fused cervical vertebrae, Narrow chest, Scoliosis, Vertebral segmentation defect, K...	ORPHA:1724
Atelosteogenesis, Type Iii	Widened distal phalanges, Tombstone-shaped proximal phalanges, Sandal gap, Tibial bowing, Flat ac...	OMIM:108721
Chondrodysplasia Punctata 1, X-Linked Recessive	Short nose, Short nasal septum, Abnormality of the vertebral column, Epiphyseal stippling, Anosmi...	OMIM:302950
Osteogenesis Imperfecta, Type Xvi	Osteopenia, Platyspondyly, Rhizomelia, Vertebral compression fracture, Narrow chest, Angulated hu...	OMIM:616229
Congenital Disorder Of Deglycosylation 2	Sacral dimple, Sandal gap, Genu recurvatum, Microtia, Macroglossia, High palate, Bilateral talipe...	OMIM:619775
Johanson-Blizzard Syndrome	Abnormality of the female genitalia, Hypospadias, Hypoplasia of penis, Abnormal vagina morphology...	ORPHA:2315
Autosomal Dominant Limb-Girdle Muscular Dystrophy Type 1A	Limited knee flexion/extension, Respiratory insufficiency, Limited elbow flexion, Respiratory fai...	ORPHA:266
Distal Deletion 12Q	Ectopic kidney, Pituitary adenoma, Aplasia/Hypoplasia of the middle phalanx of the 3rd finger, Lo...	ORPHA:96149
Turnpenny-Fry Syndrome	Hypoplasia of the primary teeth, Pectus carinatum, Microtia, Thoracic kyphoscoliosis, Dental crow...	OMIM:618371
Constricting Bands, Congenital	Abnormal lung lobation, Ectopia cordis, Tessier cleft, Cleft upper lip, Hand polydactyly, Cleft p...	OMIM:217100
Neurodevelopmental Disorder With Hypotonia, Facial Dysmorphism, And Brain Abnormalities	Short nose, Overlapping fingers, Narrow nasal bridge, Low hanging columella, Anteverted nares, Sc...	OMIM:619383
Intellectual Developmental Disorder With Language Impairment And With Or Without Autistic Features	Retrognathia, Short nose, Enuresis, Broad nasal tip, Malar flattening, Open mouth	OMIM:613670
Peho-Like Syndrome	Retrognathia, Short nose, Tapered finger, Open mouth	OMIM:617507
Acrofrontofacionasal Dysostosis	Hypospadias, Non-midline cleft of the upper lip, Dimple on nasal tip, High palate, Everted lower ...	ORPHA:1784
Aase-Smith Syndrome	Abnormal hip bone morphology, Slender finger, Camptodactyly of finger, Cleft palate, Aplasia/Hypo...	ORPHA:916
Agenesis Of The Corpus Callosum With Peripheral Neuropathy	Short nose, Scoliosis, 2-3 toe syndactyly, Tapered finger, High palate, Hypoplasia of the maxilla...	OMIM:218000
Thrombocytopenia 8, With Dysmorphic Features And Developmental Delay	Microtia, Mandibular prognathia, High palate, Overfolded helix, Prominent metopic ridge, Hearing ...	OMIM:620475
Short-Rib Thoracic Dysplasia 2 With Or Without Polydactyly	Rhizomelia, Narrow chest, Postaxial hand polydactyly, Short metacarpal, Mesomelia, Brachydactyly,...	OMIM:611263
Temtamy Syndrome	Abnormal palate morphology, Thick lower lip vermilion, Clinodactyly of the 5th finger, Low-set ea...	ORPHA:1777
Microcephaly-Capillary Malformation Syndrome	Short nose, Wide nose, Patent foramen ovale, Vesicoureteral reflux, Hypoplasia of the maxilla, Cl...	OMIM:614261
Hennekam-Beemer Syndrome	Long nose, Thick lower lip vermilion, Clinodactyly of the 5th finger, Wide nose, Respiratory insu...	ORPHA:2135
Ophthalmomandibulomelic Dysplasia	Ulnar deviated club hands, Obtuse angle of mandible, Abnormality of bone mineral density, Temporo...	ORPHA:2741
Severe Congenital Nemaline Myopathy	Hypospadias, Thin ribs, Low-set ears, Multiple prenatal fractures, Respiratory failure, Pulmonary...	ORPHA:171430
Rhizomelic Chondrodysplasia Punctata	Abnormal metaphysis morphology, Rhizomelia, Spina bifida occulta, Epiphyseal stippling, Scoliosis...	ORPHA:177
Deafness, Congenital Heart Defects, And Posterior Embryotoxon	Peripheral pulmonary artery stenosis, Ventricular septal defect, Tetralogy of Fallot	OMIM:617992
Diarrhea 3, Secretory Sodium, Congenital, With Or Without Other Congenital Anomalies	Ureteral duplication, Rectovaginal fistula, Anal atresia, Intestinal malrotation, Cleft palate	OMIM:270420
Distal Limb Deficiencies-Micrognathia Syndrome	Sensorineural hearing impairment, Oligodactyly, Microdontia, Split foot, Tarsal synostosis, Abnor...	ORPHA:1307
Johnson Neuroectodermal Syndrome	Protruding ear, Microtia, Anosmia, Choanal atresia, Everted lower lip vermilion, Atresia of the e...	ORPHA:2316
Aymé-Gripp Syndrome	Rocker bottom foot, Sensorineural hearing impairment, Microtia, Long philtrum, Craniosynostosis, ...	ORPHA:1272
Spinal Muscular Atrophy With Mental Retardation	Syndactyly	OMIM:271109
Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans	Recurrent otitis media, Rhizomelia, Narrow chest, Femoral bowing, Tibial bowing, Kyphosis, Hearin...	OMIM:616482
Smith-Lemli-Opitz Syndrome	Proximal placement of thumb, Broad alveolar ridges, Dental crowding, Intestinal malrotation, Bifi...	OMIM:270400
Pfeiffer Syndrome Type 1	Short nose, Aplasia/Hypoplasia of the thumb, Bicoronal synostosis, Short hallux, Finger syndactyl...	ORPHA:93258
Ring Chromosome 12 Syndrome	High, narrow palate, Abnormal 5th finger morphology, Glandular hypospadias, Microtia, Low-set ear...	ORPHA:1439
Cystic Fibrosis	Steatorrhea, Rectal prolapse, Male infertility, Pancreatitis, Cirrhosis, Clubbing of fingers, Hyp...	OMIM:219700
Diprosopus	Abnormality of the nose, Non-midline cleft of the upper lip, Cleft palate, Abnormal cardiac septu...	ORPHA:1681
Skin Creases, Congenital Symmetric Circumferential, 2	Microtia, Pectus excavatum, Microdontia, Small scrotum, Hypospadias, Short palm, Carious teeth, C...	OMIM:616734
Mosaic Trisomy 8	Deep plantar creases, Abnormal pinna morphology, Deep palmar crease, Anteverted nares, Scoliosis,...	ORPHA:96061
Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To 5Q31.3 Microdeletion	Polydactyly, Short nose, Anteverted nares, High palate, Aspiration pneumonia, Micrognathia, Abnor...	ORPHA:314655
Mesomelic Dysplasia, Nievergelt Type	Bilateral single transverse palmar creases, Abnormal fibula morphology, Tarsal synostosis, Sacral...	ORPHA:2633
Rapadilino Syndrome	High, narrow palate, Joint dislocation, Slender nose, Aplasia/Hypoplasia of the patella, High pal...	OMIM:266280
1P36 Deletion Syndrome	Abnormal female external genitalia morphology, Hypoplasia of penis, Sensorineural hearing impairm...	ORPHA:1606
Coloboma, Ocular, With Or Without Hearing Impairment, Cleft Lip/Palate, And/Or Impaired Intellectual Development	Cleft upper lip, Cleft palate, Hematuria	OMIM:120433
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome	Flexion contracture of toe, Microtia, Recurrent aspiration pneumonia, Wide mouth, Prominent tragu...	ORPHA:280633
Chromosome 17Q11.2 Duplication Syndrome, 1.4-Mb	Hypospadias, Bilateral cleft palate, Bifid nasal tip, High palate, Pectus excavatum, Ankyloglossi...	OMIM:618874
Microphthalmia, Syndromic 2	Sandal gap, Bifid nasal tip, Pulmonic stenosis, Aortic valve stenosis, Bifid uvula, Mitral valve ...	OMIM:300166
Digeorge Syndrome	Right aortic arch with mirror image branching, Bifid uvula, Recurrent sinusitis, Ovarian cyst, Sp...	OMIM:188400
Ververi-Brady Syndrome	Transposition of the great arteries, Clinodactyly of the 5th finger, Wide nose, High palate, Ever...	OMIM:617982
Chromosome 1P36 Deletion Syndrome, Distal	Asymmetry of the ears, Sensorineural hearing impairment, Microtia, Delayed skeletal maturation, B...	OMIM:607872
Neurodevelopmental Disorder With Cataracts, Poor Growth, And Dysmorphic Facies	Short nose, Pectus excavatum, Downturned corners of mouth, Cleft palate, Abnormal heart morpholog...	OMIM:618571
Restrictive Dermopathy 2	Microretrognathia, Short clavicles, Rectal prolapse, Gastroesophageal reflux	OMIM:619793
Musculocontractural Ehlers-Danlos Syndrome	Kyphoscoliosis, Recurrent joint dislocation, Abnormal sternum morphology, Abnormal pinna morpholo...	ORPHA:2953
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome	Rocker bottom foot, Microtia, Short 5th finger, Long toe, Tracheal stenosis, Hypospadias, Short p...	ORPHA:163979
Neurodevelopmental Disorder With Microcephaly, Arthrogryposis, And Structural Brain Anomalies	Rocker bottom foot, Thin vermilion border, Short philtrum, Single transverse palmar crease, Mandi...	OMIM:618622
Immunoskeletal Dysplasia With Neurodevelopmental Abnormalities	Dislocated radial head, Single transverse palmar crease, Delayed ossification of carpal bones, An...	OMIM:617425
Al-Raqad Syndrome	Short nose, Sandal gap, Narrow mouth, Brachydactyly, Atrial septal defect, Thin upper lip vermilion	OMIM:616459
Holoprosencephaly 13, X-Linked	Solitary median maxillary central incisor, Gastroesophageal reflux, Duodenal atresia, Patent fora...	OMIM:301043
Ectodermal Dysplasia-Syndactyly Syndrome 2	Palmoplantar keratoderma, Enamel hypoplasia, Syndactyly, Cardiomegaly, Thin upper lip vermilion	OMIM:613576
Pelvic Organ Prolapse, Susceptibility To	Rectal prolapse	OMIM:176780
Neuropathy, Hereditary Motor And Sensory, Type Vib, With Optic Atrophy	Narrow palate, Pes cavus, Anteverted nares, Scoliosis, Flexion contracture, Tented upper lip verm...	OMIM:616505
Geleophysic Dysplasia 1	Short long bone, Wrist flexion contracture, Pectus excavatum, Joint stiffness, Delayed skeletal m...	OMIM:231050
Trisomy 12P	Short nose, Clinodactyly of the 5th finger, Everted lower lip vermilion, Anal atresia, Downturned...	ORPHA:1699
Vertebral, Cardiac, Tracheoesophageal, Renal, And Limb Defects	Butterfly vertebrae, Retrognathia, Fused cervical vertebrae, Esophageal atresia, Wide nose, Spina...	OMIM:619227
Chromosome 8Q22.1 Duplication Syndrome	Pes cavus, Cubitus valgus, Cervical C2/C3 vertebral fusion, Short metatarsal, Genu recurvatum, Li...	OMIM:151200
Craniodiaphyseal Dysplasia, Autosomal Dominant	Craniofacial hyperostosis, Diaphyseal sclerosis, Mandibular prognathia, Cortical sclerosis, Death...	OMIM:122860
Ectodermal Dysplasia, Ectrodactyly, And Macular Dystrophy Syndrome	1-4 finger syndactyly, Widely spaced teeth, Selective tooth agenesis, Split hand, Microdontia, Ca...	OMIM:225280
Polydactyly, Postaxial, Type A5	Metacarpal synostosis, Cutaneous finger syndactyly, Postaxial hand polydactyly, Syndactyly	OMIM:263450
Coffin-Siris Syndrome 6	Retrognathia, High, narrow palate, Short philtrum, Gastroesophageal reflux, Pectus excavatum, Mic...	OMIM:617808
Short-Rib Thoracic Dysplasia 14 With Polydactyly	Preaxial polydactyly, Accessory oral frenulum, Polycystic kidney dysplasia, Short ribs, Micromeli...	OMIM:616546
Heterotaxy, Visceral, 6, Autosomal	Situs inversus totalis, Transposition of the great arteries, Dextrocardia, Right aortic arch, Tot...	OMIM:614779
Auriculocondylar Syndrome	Aplasia/Hypoplasia of the external ear, Cleft helix, Abnormality of the temporomandibular joint, ...	ORPHA:137888
Absence Of The Pulmonary Artery	Pulmonary edema, Recurrent respiratory infections, Patent foramen ovale, Truncus arteriosus, Abno...	ORPHA:980
Branchial Arch Abnormalities, Choanal Atresia, Athelia, Hearing Loss, And Hypothyroidism Syndrome	Mixed hearing impairment, Microtia, Bifid uvula, Broad philtrum, Clinodactyly, Choanal atresia, A...	OMIM:620186
Aminopterin Syndrome Sine Aminopterin	Oligodontia, High palate, Arachnodactyly, Micrognathia, Cleft palate, Rudimentary postaxial polyd...	OMIM:600325
Grant Syndrome	Abnormal palate morphology, Abnormal cortical bone morphology, Joint dislocation, Narrow chest, W...	ORPHA:2097
Triploidy	Hypospadias, Hypoplasia of penis, Finger syndactyly, Non-midline cleft of the upper lip, Narrow m...	ORPHA:3376
Microcephalic Osteodysplastic Primordial Dwarfism Type Ii	Retrognathia, Abnormal female external genitalia morphology, Hypoplastic iliac wing, Sensorineura...	ORPHA:2637
Ollier Disease	Abnormal metaphysis morphology, Bone pain, Micromelia, Precocious puberty, Joint stiffness, Abnor...	ORPHA:296
Prominent Glabella-Microcephaly-Hypogenitalism Syndrome	Bilateral single transverse palmar creases, Short nose, Hypoplasia of penis, Camptodactyly of fin...	ORPHA:2083
Feingold Syndrome	Orofacial cleft, Annular pancreas, Clinodactyly of the 5th finger, Esophageal atresia, Anteverted...	ORPHA:1305
Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum	Carpal osteolysis, Osteolysis involving bones of the lower limbs, Osteolysis involving bones of t...	ORPHA:371428
Intellectual Developmental Disorder, X-Linked, Syndromic, Claes-Jensen Type	Pectus excavatum, Short distal phalanx of finger, Talipes calcaneovarus, Furrowed tongue, Large h...	OMIM:300534
Timothy Syndrome	Pneumonia, Bronchitis, Patent foramen ovale, Microdontia, Cutaneous syndactyly, Hypothyroidism, T...	OMIM:601005
Atrial Septal Defect 7 With Or Without Atrioventricular Conduction Defects	Pulmonary artery atresia, Secundum atrial septal defect, Tetralogy of Fallot, Left ventricular hy...	OMIM:108900
Duane Retraction Syndrome	Abnormal form of the vertebral bodies, Sensorineural hearing impairment, Abnormal pinna morpholog...	ORPHA:233
Vertebral Fusion, Posterior Lumbosacral, With Blepharoptosis	Posterior fusion of lumbosacral vertebrae	OMIM:192800
Trigonocephaly 1	Short nose, High, narrow palate, Lumbar hemivertebrae, Long penis, Meckel diverticulum, Metopic s...	OMIM:190440
Ceroid Lipofuscinosis, Neuronal, 10	Respiratory insufficiency, Split hand, Low-set ears, Neonatal death, Respiratory failure, Wide na...	OMIM:610127
Craniodiaphyseal Dysplasia	Diaphyseal undertubulation, Craniofacial hyperostosis, Stenosis of the external auditory canal, A...	ORPHA:1513
Distal Deletion 10Q	Sandal gap, Prominent fingertip pads, Cochlear malformation, Pectus excavatum, Congenital sensori...	ORPHA:96148
Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome Due To 10P11.21P12.31 Microdeletion	Short nose, Absent cupid's bow, Ventricular hypertrophy, Choanal atresia, Celiac disease, Pulmoni...	ORPHA:284169
Schwartz-Jampel Syndrome	Spinal rigidity, Flexion contracture of toe, Pectus carinatum, Hyperlordosis, Wrist flexion contr...	ORPHA:800
Intermediate Nemaline Myopathy	High, narrow palate, Low-set ears, Multiple prenatal fractures, Flexion contracture, Long philtru...	ORPHA:171433
Scleromyxedema	Abnormality of the hand, Abnormality of the gastrointestinal tract, Gastroesophageal reflux, Stro...	ORPHA:167635
Mitochondrial Dna Depletion Syndrome, Myopathic Form	Respiratory insufficiency, Scoliosis, Ventilator dependence with inability to wean, Respiratory i...	ORPHA:254875
Macrocephaly-Spastic Paraplegia-Dysmorphism Syndrome	Short nose, Short philtrum, Mandibular prognathia, Everted lower lip vermilion, Wide mouth, Thin ...	ORPHA:2429
Orofacial Cleft 14	Median cleft upper lip	OMIM:615892
Cleft Lip/Palate-Intestinal Malrotation-Cardiopathy Syndrome	Clinodactyly of the 5th finger, Bilateral cleft palate, Abnormal aortic morphology, Intestinal ma...	ORPHA:2001
Congenital Tracheomalacia	Pneumothorax, Pneumonia, Partial anomalous pulmonary venous return, Emphysema, Esophageal atresia...	ORPHA:95430
Adams-Oliver Syndrome 3	Short 5th toe, Short metatarsal, Absent toe, 2-3 toe syndactyly, Short palm, Short distal phalanx...	OMIM:614814
Renal Hypodysplasia/Aplasia 4	Pulmonary hypoplasia	OMIM:619887
Neurodevelopmental Disorder With Intracranial Hemorrhage, Seizures, And Spasticity	Retinal arterial tortuosity, Everted lower lip vermilion, Pectus excavatum, Cardiomegaly, Narrow ...	OMIM:620371
Smith-Mccort Dysplasia 2	Pectus carinatum, Hyperlordosis, Flat acetabular roof, Short metacarpal, Broad metatarsal, Promin...	OMIM:615222
Bent Bone Dysplasia Syndrome 2	Hypoplastic iliac wing, Short ribs, Femoral bowing, Short lower limbs, Butterfly vertebrae, Bowed...	OMIM:620076
Arthrogryposis, Distal, Type 2B1	Rocker bottom foot, Mandibular prognathia, Absent phalangeal crease, Narrow mouth, High palate, U...	OMIM:601680
Craniofrontonasal Dysplasia	Orofacial cleft, Midline defect of the nose, Clinodactyly of the 5th finger, Hypospadias, Sandal ...	ORPHA:1520
Gm1 Gangliosidosis	Abnormal form of the vertebral bodies, Hyperlordosis, Kyphosis, Joint stiffness, Abnormal epiphys...	ORPHA:354
Arterial Tortuosity Syndrome	Abnormal carotid artery morphology, Rocker bottom foot, Arachnodactyly, Coxa valga, Hip dislocati...	ORPHA:3342
Lumbar Syndrome	Hypospadias, Ectopic anus, Vesicoureteral reflux, Bifid scrotum, Anal atresia, Bifid uterus, Blad...	ORPHA:83628
Cortical Dysplasia, Complex, With Other Brain Malformations 9	Pulmonary hypoplasia, Bilateral talipes equinovarus	OMIM:618174
Renal Hypodysplasia/Aplasia 2	Pulmonary hypoplasia	OMIM:615721
Langer Mesomelic Dysplasia	Abnormal carpal morphology, Madelung deformity, Mesomelic/rhizomelic limb shortening, High palate...	ORPHA:2632
Cerebrofacioarticular Syndrome	Osteopenia, Caudal appendage, Anal stenosis, Bilateral choanal atresia/stenosis, Hypospadias, Tra...	ORPHA:314679
Doors Syndrome	Aplasia/Hypoplasia of the phalanges of the 2nd toe, Wide nasal base, Broad alveolar ridges, Abnor...	ORPHA:79500
Lung Disease, Immunodeficiency, And Chromosome Breakage Syndrome	Decreased proportion of CD8-positive T cells, Hypoplasia of the thymus, Decreased proportion of C...	OMIM:617241
Teebi-Shaltout Syndrome	Rocker bottom foot, Pectus excavatum, Ureteral stenosis, Aortic valve stenosis, Wide mouth, Synda...	OMIM:272950
Inverted Duplicated Chromosome 15 Syndrome	Clinodactyly of the 5th finger, Unilateral renal agenesis, Short philtrum, 2-3 toe syndactyly, Hi...	ORPHA:3306
Fanconi Anemia, Complementation Group R	Pelvic kidney, Radial dysplasia, Absent thumb, Anal atresia	OMIM:617244
Smith-Mccort Dysplasia 1	Short metacarpal, Kyphosis, Iliac crest serration, Hypoplastic facial bones, Metaphyseal irregula...	OMIM:607326
Intellectual Developmental Disorder With Dysmorphic Facies And Ptosis	Long philtrum, Cervical C2/C3 vertebral fusion, Short philtrum, Low-set ears, Narrow mouth, Campt...	OMIM:617333
Marshall-Smith Syndrome	Short nose, Retrognathia, Reduced bone mineral density, Slender long bone, Anteverted nares, Scol...	ORPHA:561
Deafness, Onychodystrophy, Osteodystrophy, Impaired Intellectual Development, And Seizures Syndrome	Everted lower lip vermilion, Short distal phalanx of finger, Long philtrum, Short 5th finger, Cys...	OMIM:220500
Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome	Recurrent lower respiratory tract infections, Delayed eruption of teeth, Broad clavicles, Gingiva...	ORPHA:508542
Alkuraya-Kucinskas Syndrome	Overlapping fingers, Short nose, Anteverted nares, Pleural effusion, High palate, Camptodactyly, ...	OMIM:617822
Microform Holoprosencephaly	Orofacial cleft, Short nose, Solitary median maxillary central incisor, Maternal diabetes, Short ...	ORPHA:280200
Neu-Laxova Syndrome 1	Rocker bottom foot, Radial deviation of finger, Swollen lip, Clinodactyly, Transposition of the g...	OMIM:256520
Diffuse Gastric And Lobular Breast Cancer Syndrome	Cleft upper lip, Cleft palate, Atrophic gastritis, Stomach cancer	OMIM:137215
Mosaic Trisomy 9	Rocker bottom foot, Deep plantar creases, Hypoplasia of penis, Intestinal malrotation, Hip disloc...	ORPHA:99776
Acrorenal Syndrome	Abnormal tibia morphology, Split hand, Micrognathia, Cleft palate, Abnormal morphology of ulna, A...	ORPHA:971
Pulmonary Hypoplasia, Primary	Pulmonary hypoplasia	OMIM:265430
Bladder Exstrophy	Epispadias, Abnormal clitoris morphology, Hypoplasia of penis, Vesicoureteral reflux, Abnormality...	ORPHA:93930
Mosaic Variegated Aneuploidy Syndrome 2	Abnormal lung lobation, Short nose, Decreased response to growth hormone stimulation test, Rhizom...	OMIM:614114
Cranioectodermal Dysplasia	Abnormal metaphysis morphology, Rhizomelia, Clinodactyly of the 5th finger, Abnormal diaphysis mo...	ORPHA:1515
Three M Syndrome 2	Pectus carinatum, Hyperlordosis, Prominent calcaneus, Delayed skeletal maturation, Long philtrum,...	OMIM:612921
Bnar Syndrome	Anal stenosis, Anteriorly placed anus, Abnormal fifth toe morphology	ORPHA:217266
Laron Syndrome	Hypoplasia of penis, Delayed eruption of teeth, Depressed nasal ridge, Microdontia, Tooth agenesi...	ORPHA:633
Tmem70-Related Mitochondrial Encephalo-Cardio-Myopathy	Retrognathia, Hypospadias, Short philtrum, Low-set ears, Death in infancy, Camptodactyly of finge...	ORPHA:1194
Elsahy-Waters Syndrome	Cervical C2/C3 vertebral fusion, Bifid nasal tip, Bifid scrotum, Pectus excavatum, Bifid uvula, B...	OMIM:211380
Weaver Syndrome	Abnormal metaphysis morphology, Retrognathia, Sandal gap, Hypoplasia of penis, Finger syndactyly,...	ORPHA:3447
Sifrim-Hitz-Weiss Syndrome	Cupped ear, Fused cervical vertebrae, Short clavicles, Flat acetabular roof, Tapered finger, Low-...	OMIM:617159
Eec Syndrome	Proximal placement of thumb, Microdontia, Tooth agenesis, Split foot, Taurodontia, Decreased resp...	ORPHA:1896
Currarino Syndrome	Perianal abscess, Urinary incontinence, Anal stenosis, Rectovaginal fistula, Neurogenic bladder, ...	OMIM:176450
Orofaciodigital Syndrome Xix	Retrognathia, Bifid nasal tip, Microdontia, Accessory oral frenulum, Tongue nodules, Narrow palat...	OMIM:620107
Renal Agenesis, Bilateral	Sirenomelia, Non-midline cleft of the upper lip, Abnormal intestine morphology, Tracheoesophageal...	ORPHA:1848
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 3	Postaxial hand polydactyly, Syndactyly	OMIM:615938
Intellectual Disability-Strabismus Syndrome	Rocker bottom foot, Narrow nasal ridge, Congenital finger flexion contractures, Wide mouth, Decre...	ORPHA:363528
Penile Agenesis	Anorectal anomaly, Tracheoesophageal fistula, Cystic renal dysplasia, Bilateral renal hypoplasia,...	ORPHA:49
Microcephaly-Corpus Callosum And Cerebellar Vermis Hypoplasia-Facial Dysmorphism-Intellectual Disability Syndrom	Recurrent otitis media, Hypospadias, Abnormal earlobe morphology, Low hanging columella, Antevert...	ORPHA:500159
Distal Xq28 Microduplication Syndrome	Absent antihelix, Thick lower lip vermilion, Dental crowding, Microtia, Short lingual frenulum, H...	ORPHA:293939
15Q11Q13 Microduplication Syndrome	Finger syndactyly, Clinodactyly of the 5th finger	ORPHA:238446
Thoracoabdominal Syndrome	Ectopia cordis, Transposition of the great arteries, Hypospadias, Cleft upper lip, Cleft palate, ...	OMIM:313850
Epilepsy, Progressive Myoclonic, 9	Scoliosis, Short thumb, Microglossia	OMIM:616540
Neurodevelopmental Disorder With Central And Peripheral Motor Dysfunction	11 pairs of ribs, Recurrent respiratory infections, Respiratory insufficiency, Hyperextensibility...	OMIM:618356
Syndromic Diarrhea	Villous atrophy, Gastritis, Thrombocytosis, Polycystic kidney dysplasia, Lymphopenia, Hypoplasia ...	ORPHA:84064
Kyphoscoliosis-Lateral Tongue Atrophy-Hereditary Spastic Paraplegia Syndrome	Kyphoscoliosis, Proximal muscle weakness in upper limbs, Upper limb amyotrophy, Knee flexion cont...	ORPHA:496689
Charge Syndrome	Abnormal pinna morphology, Microtia, Bifid scrotum, Anosmia, Tracheoesophageal fistula, Umbilical...	ORPHA:138
Fetal Encasement Syndrome	Increased urinary 8-oxo-7,8-dihydroguanosine level, Upper limb undergrowth, Tetralogy of Fallot, ...	OMIM:613630
Miller-Dieker Lissencephaly Syndrome	Polydactyly, Joint contracture of the hand, Short nose, Deep palmar crease, Clinodactyly of the 5...	OMIM:247200
Joubert Syndrome 18	Kyphoscoliosis, Occipital encephalocele, Retrognathia, Bowing of the long bones, Camptodactyly, P...	OMIM:614815
Fatty Acyl-Coa Reductase 1 Deficiency	Short nose, Smooth philtrum, Long philtrum, Thin upper lip vermilion, Depressed nasal bridge	ORPHA:438178
Acrocephalopolydactylous Dysplasia	Short nose, Enlarged kidney, Extrapulmonary lobar sequestration, Hypoplasia of the small intestin...	OMIM:200995
Shashi-Pena Syndrome	Retrognathia, Deep palmar crease, Cervical C2/C3 vertebral fusion, Scoliosis, Low-set ears, Short...	OMIM:617190
Osteoglosphonic Dysplasia	Abnormal clavicle morphology, Abnormal bone ossification, Rhizomelia, Abnormal form of the verteb...	ORPHA:2645
Osteogenesis Imperfecta, Type Ix	Platyspondyly, Pectus carinatum, Scoliosis, Pectus excavatum, Kyphosis, Multiple prenatal fractur...	OMIM:259440
Chromosome 19Q13.11 Deletion Syndrome, Distal	Thin vermilion border, Retrognathia, Short nose, Solitary median maxillary central incisor, Hypos...	OMIM:613026
Cdags Syndrome	Rectourethral fistula, Hypospadias, Rectovaginal fistula, Short clavicles, Short ribs, Anal atres...	OMIM:603116
Brachydactyly, Type B2	Aplasia/Hypoplasia of the distal phalanges of the hand, Tarsal synostosis, Distal symphalangism o...	OMIM:611377
Fliedner-Zweier Syndrome	Unilateral renal agenesis, High palate, Tracheoesophageal fistula, Anal atresia, Hydronephrosis, ...	OMIM:620511
Skraban-Deardorff Syndrome	Absent cupid's bow, Widely spaced teeth, Anteverted nares, Right aortic arch, Thick upper lip ver...	OMIM:617616
Acropectoral Syndrome	Preaxial hand polydactyly, Finger syndactyly	ORPHA:85203
Congenital Heart Defects, Multiple Types, 7	Right aortic arch, Absence of the pulmonary valve, Pulmonary artery atresia, Double aortic arch, ...	OMIM:618780
Heterotaxy, Visceral, 12, Autosomal	Pulmonic stenosis, Discordant atrioventricular connection, Patent foramen ovale, Common atrium, P...	OMIM:619702
Fetal Alcohol Syndrome	Short nose, Non-midline cleft of the upper lip, Anteverted nares, Microdontia, Micrognathia, Clef...	ORPHA:1915
Hydrolethalus	Retrognathia, Gingival cleft, Anencephaly, Abnormal fallopian tube morphology, Low-set, posterior...	ORPHA:2189
Mycophenolate Mofetil Embryopathy	Orofacial cleft, Tracheomalacia, Microtia, Tracheoesophageal fistula, Foot polydactyly, Short pal...	ORPHA:268249
Baller-Gerold Syndrome	Short nose, Abnormal carpal morphology, Abnormal metacarpal morphology, Aplasia/Hypoplasia of the...	ORPHA:1225
Chromosome 9P Deletion Syndrome	Retrognathia, Clinodactyly of the 5th toe, Sandal gap, Long philtrum, Long toe, Narrow palate, Pe...	OMIM:158170
Neurodevelopmental Disorder With Intention Tremor, Pyramidal Signs, Dyspraxia, And Ocular Anomalies	Long nose, Wide nose, Low insertion of columella, High palate, Dextrotransposition of the great a...	OMIM:619995
Upper Limb Mesomelic Dysplasia	Hypoplasia of the ulna, Radial bowing, Ulnar deviation of finger	ORPHA:2497
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome	Kyphoscoliosis, Arachnodactyly, Bifid uvula, Absent thumb, Cervical ribs, Joint hypermobility, Sh...	ORPHA:500150
Macrocephaly-Intellectual Disability-Autism Syndrome	Lymphoid nodular hyperplasia, Short nose, Thyroid carcinoma, Intestinal polyposis, Hurthle cell t...	ORPHA:210548
Miller-Dieker Syndrome	Short nose, Clinodactyly of the 5th finger, Anteverted nares, Nephropathy, Abnormal upper lip mor...	ORPHA:531
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 4B	3-Methylglutaconic aciduria, Pulmonary hypoplasia	OMIM:615228
White-Sutton Syndrome	Sensorineural hearing impairment, Broad thumb, Bifid uvula, Joint hypermobility, Short philtrum, ...	OMIM:616364
4Q21 Microdeletion Syndrome	Thin vermilion border, Short philtrum, Scoliosis, Low-set ears, Abnormality of the dentition, Kyp...	ORPHA:238750
Hennekam Lymphangiectasia-Lymphedema Syndrome 1	Bilateral single transverse palmar creases, Retrognathia, Ectopic kidney, Hypoplastic iliac wing,...	OMIM:235510
Fraser Syndrome 1	Dental crowding, Abnormal heart morphology, Aplasia/Hypoplasia of the sternum, Aplasia/Hypoplasia...	OMIM:219000
Nijmegen Breakage Syndrome	Long nose, Sandal gap, T lymphocytopenia, Sinusitis, Choanal atresia, Cleft palate, Recurrent pne...	OMIM:251260
Familial Osteodysplasia, Anderson Type	Long nose, Aplasia/hypoplasia of the femur, Abnormal earlobe morphology, Abnormal form of the ver...	ORPHA:2769
Lethal Congenital Contracture Syndrome Type 1	Abnormal cortical bone morphology, Abnormal hip bone morphology, Low-set, posteriorly rotated ear...	ORPHA:1486
Richieri-Costa/Guion-Almeida Syndrome	Mandibular prognathia, Pectus excavatum, Abnormal digit morphology, Cleft upper lip, Cleft palate...	OMIM:268850
Acropectorovertebral Dysplasia	High, narrow palate, Tarsal synostosis, Triphalangeal thumb, Finger syndactyly, Synostosis of car...	ORPHA:957
Spondyloepimetaphyseal Dysplasia, Aggrecan Type	Rhizomelia, Low-set, posteriorly rotated ears, Barrel-shaped chest, Mandibular prognathia, Broad ...	ORPHA:171866
Short-Rib Thoracic Dysplasia 18 With Polydactyly	Preaxial polydactyly, Ulnar bowing, Vertebral wedging, Single transverse palmar crease, 2-3 toe s...	OMIM:617866
Juvenile Polyposis Of Infancy	Midclavicular hypoplasia, Rectal prolapse, Protein-losing enteropathy, High, narrow palate, Gastr...	ORPHA:79076
Testicular Anomalies With Or Without Congenital Heart Disease	Abnormality of thyroid physiology, Corpus cavernosum hypoplasia, Microphallus, Cryptorchidism, Te...	OMIM:615542
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 2	Rhizomelia, Unilateral renal agenesis, Patent ductus arteriosus, 11 pairs of ribs, Renal hypoplas...	OMIM:617661
Loeys-Dietz Syndrome 2	Retrognathia, Pulmonary artery aneurysm, Arterial tortuosity, Descending thoracic aorta aneurysm,...	OMIM:610168
3Q29 Microdeletion Syndrome	Orofacial cleft, Short nose, Clinodactyly of the 5th finger, Hypospadias, Short philtrum, Horsesh...	ORPHA:65286
21Q22.11Q22.12 Microdeletion Syndrome	Sacral dimple, Recurrent otitis media, Thick lower lip vermilion, Cone-shaped epiphyses of the ph...	ORPHA:261323
Melanocytic Nevus Syndrome, Congenital	Short nose, Narrow nasal ridge, Anteverted nares, Everted lower lip vermilion, Broad nasal tip, O...	OMIM:137550
Coenzyme Q10 Deficiency, Primary, 8	Pulmonary hypoplasia, Abnormal renal corticomedullary differentiation, Left ventricular hypertrophy	OMIM:616733
Acrocraniofacial Dysostosis	Abnormal hip bone morphology, Abnormal form of the vertebral bodies, Sensorineural hearing impair...	ORPHA:949
Filippi Syndrome	Bilateral single transverse palmar creases, Thin vermilion border, Clinodactyly of the 5th toe, C...	ORPHA:3255
Arterial Tortuosity Syndrome	Ischemic stroke, Aortic root aneurysm, Ventricular hypertrophy, High palate, Aortic tortuosity, P...	OMIM:208050
Congenital Multicore Myopathy With External Ophthalmoplegia	Pneumonia, Scoliosis, High palate, Respiratory failure, Rectus femoris muscle atrophy, Flexion co...	ORPHA:98905
Neurodevelopmental Disorder With Hypotonia, Impaired Speech, And Behavioral Abnormalities	Short nose, Thick lower lip vermilion, Anteverted nares, Tapered finger, Long hallux, Tented uppe...	OMIM:619854
Vici Syndrome	Everted upper lip vermilion, Cardiomyopathy, T lymphocytopenia, Leukopenia, Dysphagia, Abnormal t...	OMIM:242840
Intellectual Disability-Hypotonic Facies Syndrome, X-Linked, 1	Kyphoscoliosis, Radial deviation of finger, Sensorineural hearing impairment, Microtia, Hypoplast...	OMIM:309580
Gollop-Wolfgang Complex	Ectrodactyly, Hand monodactyly, Aplasia/Hypoplasia of the tibia, Bifid femur, Aplasia/Hypoplasia ...	ORPHA:1986
Impaired Intellectual Development And Distinctive Facial Features With Or Without Cardiac Defects	Transposition of the great arteries, Patent foramen ovale, Everted lower lip vermilion, Bulbous n...	OMIM:616789
Auriculocondylar Syndrome 1	Dental malocclusion, Anterior open-bite malocclusion, Mandibular condyle hypoplasia, Stenosis of ...	OMIM:602483
Split-Hand/Foot Malformation 4	Aplasia/Hypoplasia of metatarsal bones, Triphalangeal thumb, Aplasia/Hypoplasia of the phalanges ...	OMIM:605289
Bardet-Biedl Syndrome 4	Polydactyly, Abnormality of the dentition, Renal cyst, Syndactyly, Brachydactyly, Hypogonadism, C...	OMIM:615982
Noonan Syndrome 12	Decreased response to growth hormone stimulation test, Proximal placement of thumb, 11 pairs of r...	OMIM:618624
Ventricular Septal Defect 3	Pulmonary artery stenosis, Atrial septal defect, Ventricular septal defect, Patent ductus arteriosus	OMIM:614432
Brachytelephalangy-Dysmorphism-Kallmann Syndrome	Abnormal nostril morphology, Short nose, Genu valgum, Abnormal metacarpal morphology, Hypoplasia ...	ORPHA:1295
Rothmund-Thomson Syndrome	Osteopenia, Hypoplasia of the ulna, Supernumerary tooth, Reduced bone mineral density, Metaphysea...	ORPHA:2909
Lowry-Maclean Syndrome	Convex nasal ridge, Cleft palate, Abnormal heart morphology, Delayed eruption of teeth	OMIM:600252
Simpson-Golabi-Behmel Syndrome, Type 1	Narrow greater sciatic notch, Enlarged kidney, Short greater sciatic notch, Meckel diverticulum, ...	OMIM:312870
Hyperphosphatasia With Impaired Intellectual Development Syndrome 4	Short nose, Shortening of all distal phalanges of the fingers, Cleft palate, Broad nasal tip, Ten...	OMIM:615716
Fetal Valproate Spectrum Disorder	Thin vermilion border, Short nose, Narrow mouth, Depressed nasal ridge, Downturned corners of mou...	ORPHA:1906
Dysplastic Cortical Hyperostosis, Kozlowski-Tsuruta Type	Hepatomegaly, Abnormality of neuronal migration, Limb undergrowth, Splenomegaly, Abnormal limb bo...	ORPHA:2204
Dysmorphism-Short Stature-Deafness-Difference Of Sex Development Syndrome	Short nose, Hypospadias, Cleft soft palate, Anteverted nares, Microtia, Male pseudohermaphroditis...	ORPHA:2282
Camptodactyly Syndrome, Guadalajara Type 3	Osteopenia, Retrognathia, Distal shortening of limbs, Wide nasal base, Spina bifida occulta, Abno...	ORPHA:488434
Coffin-Siris Syndrome 2	Thick lower lip vermilion, Short philtrum, Delayed eruption of teeth, Sandal gap, Anteverted nare...	OMIM:614607
Split-Hand/Foot Malformation 6	Finger syndactyly, Split hand, Finger aplasia, Split foot, Foot oligodactyly, Toe syndactyly	OMIM:225300
Acheiropodia	Abnormal metaphysis morphology, Fibular aplasia, Aplasia of the ulna, Abnormal epiphysis morpholo...	ORPHA:931
Adams-Oliver Syndrome 4	Absent middle phalanx of the 3rd toe, Aplasia of the distal phalanges of the toes, Aplasia of the...	OMIM:615297
Hypophosphatasia, Infantile	Stillbirth, Unossified vertebral bodies, Recurrent respiratory infections, Metaphyseal cupping, S...	OMIM:241500
Juvenile Polyposis Syndrome	Neoplasm of the stomach, Rectal prolapse, Clubbing, Colon cancer, Hematochezia, Intussusception, ...	OMIM:174900
Fraser Syndrome 2	Unilateral renal agenesis, Anal atresia, Cutaneous syndactyly, Intestinal malrotation, Renal hypo...	OMIM:617666
Dyssegmental Dysplasia, Rolland-Desbuquois Type	Narrow greater sciatic notch, Equinovarus deformity, Adducted thumb, Encephalocele, Narrow chest,...	OMIM:224400
Brachydactyly-Preaxial Hallux Varus Syndrome	Abnormal palate morphology, Radial club hand, Short metatarsal, Short metacarpal, Broad thumb, Mi...	ORPHA:1278
Meckel Syndrome, Type 5	Postaxial hand polydactyly, Bowing of the long bones, Renal cyst, Bile duct proliferation, Cleft ...	OMIM:611561
Renal Agenesis	Absent vas deferens, Unilateral renal agenesis, Anal atresia, Aplasia/hypoplasia of the uterus, U...	ORPHA:411709
Achondroplasia	Narrow greater sciatic notch, Limited elbow extension, Rhizomelia, Ulnar bowing, Flared metaphysi...	OMIM:100800
Chromosome 4Q32.1-Q32.2 Triplication Syndrome	Short nose, Sacral dimple, Aganglionic megacolon, Short philtrum, Microtia, Mandibular prognathia...	OMIM:613603
Congenital Myopathy 12	High, narrow palate, High palate, Camptodactyly, Jaw contracture, Pulmonary artery stenosis, Arac...	OMIM:612540
Focal Facial Dermal Dysplasia Type Iii	Anal atresia	ORPHA:1807
Viss Syndrome	Rocker bottom foot, Retrognathia, Pulmonary artery aneurysm, Iliac artery aneurysm, Arterial tort...	OMIM:619472
Kury-Isidor Syndrome	Rocker bottom foot, Widely spaced teeth, Proximal placement of thumb, Triangular mouth, Finger sy...	OMIM:619762
White Forelock With Malformations	Aplasia/Hypoplasia of the distal phalanges of the toes	OMIM:277740
Basel-Vanagaite-Smirin-Yosef Syndrome	Retrognathia, Everted lower lip vermilion, Contracture of the proximal interphalangeal joint of t...	ORPHA:464738
Radiation Proctitis	Intestinal obstruction, Rectal fistula, Abnormal gastrointestinal vascular morphology, Rectal abs...	ORPHA:70475
Anencephaly 2	Bifid nose, Cleft maxillary alveolar ridge, Median cleft palate, Median cleft upper lip	OMIM:619452
Developmental Delay With Or Without Dysmorphic Facies And Autism	Wide mouth, Narrow nose, 2-3 toe cutaneous syndactyly, Short philtrum, Anteverted nares, Patent f...	OMIM:618454
Hartsfield Syndrome	Non-midline cleft of the upper lip, Split hand, Cleft palate, Aplasia/Hypoplasia of the radius, D...	ORPHA:2117
Dystonia-Deafness Syndrome 1	Femoral retroversion, Cleft upper lip, Cleft palate, Dysphagia, Achalasia, Hypoplastic scapulae, ...	OMIM:607371
Genitopatellar Syndrome	Hypoplastic ischia, Dysphagia, Malrotation of small bowel, Cryptorchidism, Short phalanx of finge...	OMIM:606170
Holoprosencephaly	Solitary median maxillary central incisor, Hypoplasia of penis, Anosmia, Tooth agenesis, Broad ph...	ORPHA:2162
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 5	Scoliosis, Hyperlordosis, Calf muscle hypertrophy, Kyphosis, Achilles tendon contracture, Thigh h...	OMIM:607155
Lamb-Shaffer Syndrome	Fused cervical vertebrae, Scoliosis, Thoracic kyphosis, Micrognathia, Broad nasal tip, Thick verm...	ORPHA:530983
Trisomy 17P	Hypoplasia of penis, Aortic valve stenosis, Urethral valve, Wide mouth, Urethral stenosis, Polycy...	ORPHA:261290
Intellectual Developmental Disorder, X-Linked 30	Short nose, Anteverted nares, Prominent fingertip pads, High palate, Thick upper lip vermilion, P...	OMIM:300558
Immunodeficiency 43	Hypoplasia of the ulna, Lung abscess, Radial bowing, Bronchiectasis, Recurrent respiratory infect...	OMIM:241600
Ellis Van Creveld Syndrome	Microdontia, Abnormal oral frenulum morphology, Short distal phalanx of finger, Hypospadias, Abno...	ORPHA:289
Acromelic Frontonasal Dysplasia	Patellar hypoplasia, Talipes equinovarus, Anterior pituitary hypoplasia, Bifid nasal tip, Thick n...	ORPHA:1827
Congenital Neuronal Ceroid Lipofuscinosis	Aplasia/Hypoplasia of the external ear, Split hand, Low-set ears, Respiratory failure, Neonatal r...	ORPHA:168486
Antley-Bixler Syndrome	Short nose, Talipes, Low-set, posteriorly rotated ears, Narrow chest, Anteverted nares, Delayed c...	ORPHA:83
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 2	Retrognathia, Short nose, Anteverted nares, B lymphocytopenia, High palate, Recurrent upper respi...	OMIM:614069
Adenocarcinoma Of The Anal Canal	Rectal prolapse, Anal stenosis, Neoplasm of the rectum, Anal canal adenocarcinoma, Intestinal ble...	ORPHA:424016
Congenital Disorder Of Glycosylation With Defective Fucosylation 1	Retrognathia, Short nose, Neutropenia, Recurrent lower respiratory tract infections, High palate,...	OMIM:618005
Lacrimoauriculodentodigital Syndrome	Mixed hearing impairment, Sensorineural hearing impairment, Abnormal pinna morphology, Microtia, ...	ORPHA:2363
Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, And Genital Anomalies	Osteopenia, Short nose, Hypospadias, Low-set ears, Epiphyseal dysplasia, Delayed skeletal maturat...	OMIM:614732
Cohen Syndrome	Abnormal hip bone morphology, Sandal gap, Sensorineural hearing impairment, Pectus excavatum, Kyp...	ORPHA:193
Multiple Pterygium-Malignant Hyperthermia Syndrome	Broad alveolar ridges, Pectus excavatum, Kyphosis, Arachnodactyly, Small scrotum, Long philtrum, ...	ORPHA:2215
Prader-Willi Syndrome Due To Translocation	Retrognathia, Everted lower lip vermilion, Bifid uvula, Wide mouth, Abnormal heart morphology, Ov...	ORPHA:177907
Immunodeficiency 95	Respiratory failure, Recurrent respiratory infections, Recurrent viral upper respiratory tract in...	OMIM:619773
Premature Aging Syndrome, Penttinen Type	Retrognathia, Sensorineural hearing impairment, Tibial bowing, Aplasia of the nasal bone, Delayed...	OMIM:601812
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate Syndrome	Widely spaced teeth, Clinodactyly of the 5th finger, Palmoplantar keratoderma, Delayed eruption o...	ORPHA:1071
Temple-Baraitser Syndrome	Everted upper lip vermilion, Everted lower lip vermilion, Broad thumb, Wide mouth, Short distal p...	ORPHA:420561
Nicolaides-Baraitser Syndrome	Broad distal phalanx of finger, Wide nasal base, Sandal gap, Broad 2nd toe, Short metacarpal, Eve...	OMIM:601358
Osteogenesis Imperfecta, Type Xiii	Kyphoscoliosis, Reduced bone mineral density, Limitation of knee mobility, Dislocated radial head...	OMIM:614856
Gastrointestinal Defects And Immunodeficiency Syndrome 2	Rectovaginal fistula, Bilateral talipes equinovarus, Inflammation of the large intestine, Microgn...	OMIM:619708
Syndactyly-Telecanthus-Anogenital And Renal Malformations Syndrome	Hypoplasia of the radius, Clinodactyly of the 5th finger, Ectopic kidney, Horseshoe kidney, Vesic...	ORPHA:140952
Sacral Agenesis With Vertebral Anomalies	Absence of the sacrum, Unilateral renal agenesis, Anal atresia, Persistent cloaca	OMIM:615709
Ossification Anomalies-Psychomotor Developmental Delay Syndrome	Abnormal bone ossification, Generalized bone demineralization, Abnormal diaphysis morphology, Nar...	ORPHA:73230
Townes-Brocks Syndrome 1	Clinodactyly of the 5th toe, Sensorineural hearing impairment, Microtia, Bifid scrotum, Tracheoes...	OMIM:107480
Intellectual Developmental Disorder, X-Linked, Syndromic, Lujan-Fryns Type	Long nose, Short philtrum, Narrow nasal bridge, Dental crowding, Ascending tubular aorta aneurysm...	OMIM:309520
Lenz-Majewski Hyperostotic Dwarfism	Sensorineural hearing impairment, Broad clavicles, Delayed skeletal maturation, Syndactyly, Joint...	OMIM:151050
Thanatophoric Dysplasia Type 1	Abnormal metaphysis morphology, Narrow chest, Short greater sciatic notch, Respiratory insufficie...	ORPHA:1860
Smith-Kingsmore Syndrome	Short nose, Short proximal phalanx of finger, Deep plantar creases, Rhizomelia, Deep palmar creas...	OMIM:616638
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome	Sensorineural hearing impairment, Hyperlordosis, Kyphosis, Hypergonadotropic hypogonadism, Decrea...	ORPHA:3085
Tetrasomy 9P	Bilateral single transverse palmar creases, Abnormal number of permanent teeth, Juxtaductal coarc...	ORPHA:3310
Developmental Delay, Dysmorphic Facies, And Brain Anomalies	Retrognathia, Single transverse palmar crease, Microtia, Mandibular prognathia, Low-set ears, Pes...	OMIM:620535
Hereditary Motor And Sensory Neuropathy, Type Iic	Proximal upper limb amyotrophy, Pes cavus, Proximal muscle weakness in upper limbs, Distal lower ...	OMIM:606071
Grange Syndrome	Short palm, Syndactyly, Arterial stenosis, Patent ductus arteriosus, Ventricular septal defect	ORPHA:79094
Fanconi Anemia, Complementation Group F	Hypoplasia of the radius, Sacral dimple, Microtia, Microphallus, Conductive hearing impairment, A...	OMIM:603467
Thalidomide Embryopathy	Aplasia/hypoplasia of the femur, Abnormal fibula morphology, Triphalangeal thumb, Radial club han...	ORPHA:3312
Bryant-Li-Bhoj Neurodevelopmental Syndrome 1	Dilation of Virchow-Robin spaces, Everted lower lip vermilion, Broad thumb, Wide mouth, Broad phi...	OMIM:619720
Linear Skin Defects With Multiple Congenital Anomalies 1	Clitoral hypertrophy, Hypoplasia of the uterus, Hypospadias, Ovotestis, Single transverse palmar ...	OMIM:309801
Portal Hypertension, Noncirrhotic, 1	Hepatomegaly, Elevated circulating hepatic transaminase concentration, Esophageal varix, Portal h...	OMIM:617068
Brachydactyly Type A4	Short middle phalanx of the 5th finger, Symphalangism affecting the phalanges of the hand, Short ...	ORPHA:93394
Tetraamelia Syndrome 1	Single naris, Choanal atresia, Anal atresia, Hypoplastic pelvis, Asplenia, Cleft upper lip, Micro...	OMIM:273395
Oculocerebrofacial Syndrome, Kaufman Type	Retrognathia, Clitoral hypertrophy, High, narrow palate, Long foot, Thin vermilion border, Short ...	ORPHA:2707
Tibial Aplasia-Ectrodactyly Syndrome	Popliteal pterygium, Fibular hypoplasia, Abnormal fibula morphology, Abnormal femur morphology, F...	ORPHA:3329
Myoectodermal Gonadal Dysgenesis Syndrome	Limited elbow extension, Gonadal dysgenesis, Unilateral renal agenesis, Accessory spleen, Single ...	OMIM:618419
Mucopolysaccharidosis, Type Vii	Narrow greater sciatic notch, Sensorineural hearing impairment, Pectus carinatum, Large iliac win...	OMIM:253220
Recon Progeroid Syndrome	Thin vermilion border, Proximal placement of thumb, Narrow nasal ridge, Anteverted nares, Microti...	OMIM:620370
Fontaine Progeroid Syndrome	Retrognathia, Everted lower lip vermilion, Microdontia, Abnormal heart morphology, Recurrent aspi...	OMIM:612289
Schinzel-Giedion Syndrome	Kyphoscoliosis, Stiff elbow, Retrognathia, Broad alveolar ridges, Tibial bowing, Wide mouth, Umbi...	ORPHA:798
9q subtelomeric deletion syndrome	Short nose, Anteverted nares, Abnormal heart morphology, Protruding tongue	DECIPHER:52
Holoprosencephaly-Caudal Dysgenesis Syndrome	Radial club hand, Cleft palate, Abnormal cerebral vascular morphology, Abnormal morphology of the...	ORPHA:2165
Arthrogryposis Multiplex Congenita 6	Adducted thumb, Death in childhood, Hypospadias, Death in infancy, Neonatal death, Respiratory fa...	OMIM:619334
Kinsship Syndrome	Dislocated radial head, Death in infancy, Respiratory arrest, Mesomelia, Wide mouth, Cervical rib...	OMIM:619297
Baker-Gordon Syndrome	Short nose, Abnormal foot morphology, Prominent nasal tip, Scoliosis, Smooth philtrum, Joint hype...	OMIM:618218
Carpenter Syndrome	Polydactyly, Genu valgum, Finger syndactyly, Postaxial hand polydactyly, Polysplenia, Broad thumb...	ORPHA:65759
Kleefstra Syndrome Due To A Point Mutation	Gastroesophageal reflux, Vesicoureteral reflux, Anal atresia, Precocious puberty, Tapered finger	ORPHA:261652
Peters Plus Syndrome	Ureteral duplication, Pulmonic stenosis, Wide mouth, Long philtrum, Abnormal cardiac septum morph...	ORPHA:709
Epiphyseal Dysplasia, Multiple, With Early-Onset Diabetes Mellitus	Ivory epiphyses of the toes, Cone-shaped epiphyses of the phalanges of the hand, Hyperlordosis, C...	OMIM:226980
Neu-Laxova Syndrome	Retrognathia, Everted lower lip vermilion, Bifid uvula, Hypogonadism, Rickets, External genital h...	ORPHA:2671
Heterotaxy, Visceral, 2, Autosomal	Situs inversus totalis, Atrioventricular canal defect, Transposition of the great arteries, Mesoc...	OMIM:605376
Autosomal Dominant Popliteal Pterygium Syndrome	Popliteal pterygium, Finger syndactyly, Non-midline cleft of the upper lip, Scoliosis, Bifid scro...	ORPHA:1300
Congenital Osteogenesis Imperfecta-Microcephaly-Cataracts Syndrome	Low-set, posteriorly rotated ears, Hypoplasia of penis, Abnormal rib morphology, Micromelia, Decr...	ORPHA:2772
Peroxisome Biogenesis Disorder 12A (Zellweger)	Cholelithiasis, Prominent nose, Patent ductus arteriosus, Double outlet right ventricle, Atrial s...	OMIM:614886
Carey-Fineman-Ziter Syndrome	Thin vermilion border, Aplasia of the pectoralis major muscle, Short nose, Glandular hypospadias,...	ORPHA:1358
Temtamy Preaxial Brachydactyly Syndrome	Tarsal synostosis, Short metatarsal, Hitchhiker thumb, Talon cusp, Microdontia, Short metacarpal,...	OMIM:605282
Diamond-Blackfan Anemia 14 With Mandibulofacial Dysostosis	Microtia, Unilateral cryptorchidism, Atresia of the external auditory canal, Conductive hearing i...	OMIM:300946
Spondyloepiphyseal Dysplasia, Kimberley Type	Short thorax, Abnormal epiphysis morphology, Micromelia, Osteoarthritis, Platyspondyly	ORPHA:93283
9Q21.13 Microdeletion Syndrome	Polydactyly, Talipes, Abnormal tongue morphology, Scoliosis, Vertebral segmentation defect, Downt...	ORPHA:531151
Tetrasomy 12P	Anal atresia, Abnormal soft palate morphology	ORPHA:884
Heterotaxy, Visceral, 8, Autosomal	Congenitally corrected transposition of the great arteries with ventricular septal defect, Dextro...	OMIM:617205
Mandibulofacial Dysostosis With Macroblepharon And Macrostomia	Recurrent otitis media, Anteverted nares, Microtia, Oligodontia, Micrognathia, Posteriorly rotate...	OMIM:602562
Spondylospinal Thoracic Dysostosis	Hypoplasia of the maxilla, Micrognathia, Pulmonary hypoplasia	OMIM:601809
Acromesomelic Dysplasia, Grebe Type	Fibular hypoplasia, Tarsal synostosis, Aplasia/Hypoplasia of the thumb, Postaxial hand polydactyl...	ORPHA:2098
Methylmalonate Semialdehyde Dehydrogenase Deficiency	Short nose, Elevated urinary aminoisobutyric acid, Short philtrum, Single transverse palmar creas...	OMIM:614105
Down Syndrome	Bilateral single transverse palmar creases, Delayed puberty, Sandal gap, Microdontia, Narrow pala...	ORPHA:870
Occipital Horn Syndrome	Pectus carinatum, Large iliac wing, Pectus excavatum, Kyphosis, Absent tibia, Aplasia/hypoplasia ...	ORPHA:198
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome	Polydactyly, Leukemia, Syndactyly, Smooth philtrum, Ventricular septal defect, Depressed nasal br...	OMIM:602501
Van Der Woude Syndrome 1	Cleft upper lip, Bifid uvula, Cleft palate, Hypodontia, Lower lip pit	OMIM:119300
C Syndrome	Bilateral single transverse palmar creases, Dislocated radial head, Pectus excavatum, Death in in...	ORPHA:1308
Neurodevelopmental Disorder With Poor Growth, Large Ears, And Dysmorphic Facies	Recurrent lower respiratory tract infections, High palate, Broad thumb, Micrognathia, Secundum at...	OMIM:620194
Serrated Polyposis Syndrome	Ovarian neoplasm, Pancreatic adenocarcinoma, Gastric diverticulum, Colorectal polyposis, Prostate...	ORPHA:157798
Townes-Brocks Syndrome 2	Hypospadias, Rectovaginal fistula, Vesicoureteral reflux, Anal atresia, Bifid uterus, Crossed fus...	OMIM:617466
Kaufman Oculocerebrofacial Syndrome	Clitoral hypertrophy, Abnormal pinna morphology, Intestinal malrotation, Anteverted nares, Cariou...	OMIM:244450
Laurin-Sandrow Syndrome	Absent tibia, Fibular duplication, Absent radius, Tarsal synostosis, Abnormal metacarpal morpholo...	ORPHA:2378
Kleefstra Syndrome 1	Hypospadias, Gastroesophageal reflux, Talipes equinovarus, Single transverse palmar crease, Mandi...	OMIM:610253
Alagille Syndrome 2	Long nose, Hematuria, Renal tubular acidosis, Renal insufficiency, Renal cyst, Pulmonic stenosis,...	OMIM:610205
Basel-Vanagaite-Smirin-Yosef Syndrome	Retrognathia, Clitoral hypertrophy, Hypospadias, Short philtrum, Anteverted nares, Scoliosis, 2-3...	OMIM:616449
Cardiac, Facial, And Digital Anomalies With Developmental Delay	Radial deviation of finger, Sandal gap, Aortic valve stenosis, Syndactyly, Bicuspid aortic valve,...	OMIM:618164
Bainbridge-Ropers Syndrome	Contracture of the proximal interphalangeal joint of the 4th finger, Retrognathia, Dental crowdin...	OMIM:615485
19Q13.11 Microdeletion Syndrome	Thin vermilion border, Retrognathia, Solitary median maxillary central incisor, Hypospadias, Clin...	ORPHA:217346
Craniofrontonasal Syndrome	Breast hypoplasia, Clinodactyly of the 5th finger, Hypospadias, Hypoplastic nasal tip, Bifid nasa...	OMIM:304110
Craniofacial Microsomia 1	Occipital encephalocele, Sensorineural hearing impairment, Microtia, Underdeveloped tragus, Wide ...	OMIM:164210
Nail-Patella Syndrome	Pectus excavatum, Disproportionate prominence of the femoral medial condyle, Biceps aplasia, Ilia...	OMIM:161200
Waardenburg Syndrome Type 1	Short nose, Aganglionic megacolon, Mandibular prognathia, Cleft upper lip, Cleft palate, Tented u...	ORPHA:894
Temple Syndrome Due To Maternal Uniparental Disomy Of Chromosome 14	Maturity-onset diabetes of the young, Short philtrum, Wide nose, Anteverted nares, Narrow mouth, ...	ORPHA:96184
Congenital Tracheal Stenosis	Abnormal lung lobation, Anomalous origin of left pulmonary artery from ascending aorta, Duodenal ...	ORPHA:141127
Intellectual Developmental Disorder, Autosomal Dominant 21	Thin vermilion border, Single transverse palmar crease, Incisor macrodontia, Narrow mouth, Coarct...	OMIM:615502
Peters-Plus Syndrome	Limited elbow movement, Square pelvis bone, Proximal placement of thumb, Short metacarpal, Pectus...	OMIM:261540
Cutis Laxa, Autosomal Recessive, Type Ib	Retrognathia, Pulmonary artery aneurysm, Arterial tortuosity, Pectus excavatum, Arachnodactyly, I...	OMIM:614437
Microcephaly 6, Primary, Autosomal Recessive	Microtia, Bifid nasal tip	OMIM:608393
3Mc Syndrome 2	Limited elbow movement, Caudal appendage, Hypospadias, High palate, Depressed nasal tip, Cleft up...	OMIM:265050
Anophthalmia Plus Syndrome	Tessier cleft, Non-midline cleft of the upper lip, Bilateral cleft palate, Choanal atresia, Devia...	ORPHA:1104
Focal Facial Dermal Dysplasia Type Iv	Cleft upper lip, Cleft palate, Intracranial hemorrhage, Abnormal mast cell morphology	ORPHA:398189
Spondylometaphyseal Dysplasia, Algerian Type	Kyphoscoliosis, Short tubular bones of the hand, Carpal bone hypoplasia, Genu valgum, Flared femo...	OMIM:184253
Split-Hand/Foot Malformation 3	High palate, Narrow mouth, Split hand, Camptodactyly, Hypoplasia of the maxilla, Renal hypoplasia...	OMIM:246560
Specc1L-Related Hypertelorism Syndrome	Orofacial cleft, Advanced eruption of teeth, Thin vermilion border, Clinodactyly of the 5th finge...	ORPHA:1519
10Q22.3Q23.3 Microduplication Syndrome	Chronic otitis media, Abnormal clavicle morphology, Hypospadias, Abnormality of the philtrum, Low...	ORPHA:276422
Radial Hypoplasia-Triphalangeal Thumbs-Hypospadias-Maxillary Diastema Syndrome	Hypoplasia of the radius, Nonopposable triphalangeal thumb, Hypospadias, Mandibular prognathia, M...	ORPHA:2252
Leukocyte Adhesion Deficiency Type Ii	Narrow palate, Recurrent otitis media, Severe periodontitis, Small earlobe, Microtia, Mandibular ...	ORPHA:99843
Dextrocardia	Abnormal lung lobation, Situs inversus totalis, Dextrocardia, Meckel diverticulum, Pancreatic hyp...	ORPHA:1666
Pfeiffer Syndrome	Clinodactyly of the 5th finger, Short philtrum, Finger syndactyly, Mandibular prognathia, High pa...	ORPHA:710
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 4	Rocker bottom foot, Everted upper lip vermilion, Dilation of Virchow-Robin spaces, Sandal gap, Sh...	OMIM:619951
Aphalangy-Hemivertebrae-Urogenital-Intestinal Dysgenesis Syndrome	Abnormal metacarpal morphology, Finger syndactyly, Aplasia/Hypoplasia of the phalanges of the toe...	ORPHA:1112
Intellectual Developmental Disorder With Microcephaly And With Or Without Ocular Malformations Or Hypogonadotropic Hypogonadism	Delayed puberty, Long nose, Short nose, Decreased response to growth hormone stimulation test, Sh...	OMIM:615866
Fibrous Dysplasia Of Bone	Abnormal femur morphology, Precocious puberty in females, Ovarian cyst, Pathologic fracture, Oste...	ORPHA:249
Cornelia De Lange Syndrome 3 With Or Without Midline Brain Defects	Limited elbow movement, Proximal placement of thumb, Microdontia, Pulmonic stenosis, Bicuspid aor...	OMIM:610759
Muscular Dystrophy, Congenital, 1B	Respiratory failure, Spinal rigidity, Achilles tendon contracture, Shoulder girdle muscle weakness	OMIM:604801
Radius, Aplasia Of, With Cleft Lip/Palate	Absent radius, Cleft upper lip, Cleft palate	OMIM:179400
Severe Combined Immunodeficiency, X-Linked	Impaired lymphocyte transformation with phytohemagglutinin, Hypoplasia of the thymus, T lymphocyt...	OMIM:300400
Neurodevelopmental Disorder With Speech Impairment And Dysmorphic Facies	Everted upper lip vermilion, Widely spaced teeth, Wide nose, Anteverted nares, Microtia, Low-set ...	OMIM:619056
Acromelic Frontonasal Dysostosis	Dilation of Virchow-Robin spaces, Bifid nasal tip, Syndactyly, Midline facial cleft, Cleft palate...	OMIM:603671
Image Syndrome	Hypospadias, Low-set ears, Micromelia, Metaphyseal dysplasia, Hypogonadism, Cryptorchidism, Depre...	ORPHA:85173
Osteogenesis Imperfecta, Type Xviii	Vertebral compression fracture, Thin ribs, Femoral bowing, Bowing of the long bones, Abnormality ...	OMIM:617952
Liebenberg Syndrome	Abnormal carpal morphology, Joint contracture of the 5th finger, Elbow flexion contracture, Radia...	OMIM:186550
Schinzel-Giedion Midface Retraction Syndrome	Tibial bowing, Abnormal nasopharynx morphology, Short distal phalanx of finger, Small scrotum, In...	OMIM:269150
Intellectual Disability-Brachydactyly-Pierre Robin Syndrome	Short nose, Abnormality of canine, Aplasia of the distal phalanx of the 5th toe, Oligodontia, Exa...	ORPHA:364577
Congenital Muscular Dystrophy With Intellectual Disability And Severe Epilepsy	Osteopenia, Short nose, External genital hypoplasia, Dental malocclusion, Scoliosis, High palate,...	ORPHA:329178
Bartsocas-Papas Syndrome 2	Bilateral cleft palate, Absent distal phalanges, Micrognathia, 2-5 finger cutaneous syndactyly, A...	OMIM:619339
Anterior Chamber Cleavage Disorder, Cerebellar Hypoplasia, Hypothyroidism, And Tracheal Stenosis	Hypoplasia of penis, Stenosis of the external auditory canal, Abnormality of the dentition, Hip d...	OMIM:601427
Ayme-Gripp Syndrome	Sensorineural hearing impairment, Microtia, Pectus excavatum, Broad philtrum, Long philtrum, Cran...	OMIM:601088
White Forelock With Malformations	Abnormal palate morphology, Clinodactyly of the 5th finger, Low-set, posteriorly rotated ears, Sp...	ORPHA:2475
Acrofacial Dysostosis Syndrome Of Rodriguez	Fibular hypoplasia, Triphalangeal thumb, 11 pairs of ribs, Short philtrum, Single transverse palm...	OMIM:201170
Glycine Encephalopathy With Normal Serum Glycine	Retrognathia, Talipes equinovarus, Genu recurvatum, Anteverted nares, Elbow flexion contracture, ...	OMIM:617301
Branchiootorenal Syndrome 1	Mixed hearing impairment, Incomplete partition of the cochlea type II, Hypoplasia of the cochlea,...	OMIM:113650
Tetrasomy 18P	Thin vermilion border, Short nose, Narrow mouth, Large hands, Long philtrum, Achalasia	ORPHA:3307
Waardenburg Syndrome Type 3	Atelectasis, Narrow nasal bridge, Abnormality of the upper limb, Abnormal finger morphology, Syno...	ORPHA:896
Microcephaly, Short Stature, And Limb Abnormalities	Hypoplasia of the radius, Clinodactyly of the 5th finger, Patellar hypoplasia, 11 pairs of ribs, ...	OMIM:617604
Fibular Aplasia-Complex Brachydactyly Syndrome	Bilateral single transverse palmar creases, Abnormal thumb morphology, Tarsal synostosis, Abnorma...	ORPHA:2639
Spinocerebellar Ataxia-Dysmorphism Syndrome	Short nose, Reduced bone mineral density, Cubitus valgus, Low-set, posteriorly rotated ears, Spin...	ORPHA:1185
Acrofacial Dysostosis, Palagonia Type	Supernumerary tooth, High, narrow palate, Short 4th metacarpal, Finger syndactyly, Oligodontia, M...	ORPHA:1787
Mucolipidosis Ii Alpha/Beta	Short long bone, Flat acetabular roof, Pectus excavatum, Flared iliac wing, Wide mouth, Bullet-sh...	OMIM:252500
Malan Syndrome	Retrognathia, Advanced eruption of teeth, Short nose, Gingival overgrowth, Mandibular prognathia,...	OMIM:614753
Hypomandibular Faciocranial Dysostosis	Short nose, Anteverted nares, Maxillozygomatic hypoplasia, Low-set ears, Narrow mouth, Death in i...	ORPHA:1790
Developmental Delay With Variable Intellectual Impairment And Behavioral Abnormalities	Short nose, Clinodactyly of the 5th finger, Sandal gap, Scoliosis, Low-set ears, Accelerated skel...	OMIM:618430
Krabbe Disease, Atypical, Due To Saposin A Deficiency	Respiratory insufficiency, Respiratory failure, Death in infancy	OMIM:611722
Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities	Long nose, Small earlobe, Microtia, Joint hypermobility, Short 5th finger, Short finger, Hypospad...	OMIM:619522
Proximal Spinal Muscular Atrophy	Distal lower limb muscle weakness, Distal upper limb muscle weakness, Tongue fasciculations, Scol...	ORPHA:70
Craniodigital-Intellectual Disability Syndrome	Short nose, Spina bifida occulta, Narrow nasal bridge, Finger syndactyly, Micrognathia	ORPHA:1514
Meckel Syndrome, Type 9	Ambiguous genitalia, Occipital encephalocele, Limb undergrowth, Talipes equinovarus	OMIM:614209
Fetal Hydantoin Syndrome	Short nose, Hearing abnormality, Triphalangeal thumb, Low-set, posteriorly rotated ears, Abnormal...	ORPHA:1912
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome	Retrognathia, Biliary hyperplasia, Arachnodactyly, Contracture of the distal interphalangeal join...	ORPHA:83617
Focal Dermal Hypoplasia	Abnormality of the pulmonary vasculature, Short ribs, Tooth agenesis, Hypoplastic pelvis, Split f...	ORPHA:2092
Cerebellar Atrophy, Visual Impairment, And Psychomotor Retardation	Micrognathia, Prominent fingertip pads, Anal atresia	OMIM:616875
Cardioneuromyopathy With Hyaline Masses And Nemaline Rods	Respiratory insufficiency, Fusion of midcervical facet joints, Widening of cervical spinal canal,...	OMIM:606842
Acromesomelic Dysplasia, Hunter-Thompson Type	Bilateral single transverse palmar creases, Tarsal synostosis, Acromesomelia, Abnormally shaped c...	ORPHA:968
Spondyloepimetaphyseal Dysplasia, Missouri Type	Limited elbow extension, Rhizomelia, Small epiphyses, Ulnar bowing, Pear-shaped vertebrae, Irregu...	OMIM:602111
Meacham Syndrome	Abnormal lung lobation, Situs inversus totalis, Transposition of the great arteries, Hypoplasia o...	ORPHA:3097
Immunodeficiency 42	Splenomegaly, Hypoplasia of the thymus, Recurrent aphthous stomatitis	OMIM:616622
Jacobsen Syndrome	Abnormal form of the vertebral bodies, Death in infancy, Intestinal malrotation, Abnormality of t...	ORPHA:2308
Iniencephaly	Rocker bottom foot, Orofacial cleft, Rhizomelia, Anencephaly, Encephalocele, Hyperlordosis, Low-s...	ORPHA:63259
Neurodevelopmental Disorder With Spasticity And Poor Growth	High, narrow palate, Anteverted nares, Scoliosis, Bilateral coxa valga, Microtia, Low-set ears, S...	OMIM:618076
Barber-Say Syndrome	Microtia, first degree, Wide mouth, Anteverted nares, Stenosis of the external auditory canal, He...	OMIM:209885
Smooth Muscle Dysfunction Syndrome	Dilatation of the cerebral artery, Vascular dilatation, Common carotid artery aneurysm, Brachioce...	OMIM:613834
Poland Syndrome	Aplasia of the pectoralis major muscle, Reduced bone mineral density, Asymmetry of the thorax, Ab...	ORPHA:2911
Mullegama-Klein-Martinez Syndrome	Sensorineural hearing impairment, Microtia, Bifid uvula, Long philtrum, Polydactyly, Absent stape...	OMIM:301022
Syndactyly Type 4	Triphalangeal thumb, 6 metacarpals, 1-5 finger syndactyly, Foot polydactyly, Camptodactyly of fin...	ORPHA:93405
Periventricular Nodular Heterotopia 1	Short finger, Stroke, Cerebral hemorrhage, Syndactyly, Patent ductus arteriosus, Bicuspid aortic ...	OMIM:300049
Multiple Epiphyseal Dysplasia, Lowry Type	Fibular hypoplasia, Cleft hard palate, Rhizomelia, Genu valgum, Fixed elbow flexion, Small epiphy...	ORPHA:166016
Acrofrontofacionasal Dysostosis 1	Acetabular dysplasia, Oligodontia, Mandibular prognathia, Short metacarpal, Pectus excavatum, Bro...	OMIM:201180
Reticular Dysgenesis	Congenital agranulocytosis, Leukopenia, Hypoplasia of the thymus, Lymphopenia	OMIM:267500
Shprintzen-Goldberg Craniosynostosis Syndrome	Dislocated radial head, Pectus carinatum, Abnormal pinna morphology, Pectus excavatum, Arachnodac...	OMIM:182212
8P Inverted Duplication/Deletion Syndrome	Retrognathia, Everted lower lip vermilion, Pectus excavatum, Abnormal heart morphology, Wide mout...	ORPHA:96092
Pai Syndrome	Midline defect of the nose, Nasal polyposis, Abnormal oral frenulum morphology, Cleft palate, Bif...	ORPHA:1993
Hand-Foot-Genital Syndrome	Proximal placement of thumb, Delayed ossification of carpal bones, Bifid scrotum, Ulnar deviation...	OMIM:140000
Desmosterolosis	Retrognathia, Abnormal earlobe morphology, Intestinal malrotation, Bifid uvula, Low-set, posterio...	ORPHA:35107
Orofaciodigital Syndrome Iii	Supernumerary tooth, Postaxial hand polydactyly, Tongue nodules, Kyphosis, Low-set ears, Pectus e...	OMIM:258850
Short Stature, Amelogenesis Imperfecta, And Skeletal Dysplasia With Scoliosis	Amelogenesis imperfecta, Genu valgum, Small epiphyses, Mandibular prognathia, Short long bone, Hi...	OMIM:618363
Orofaciodigital Syndrome Iv	Short finger, Short tibia, Tongue nodules, High palate, Pectus excavatum, Foot polydactyly, Posta...	OMIM:258860
Warburg Micro Syndrome 3	Kyphoscoliosis, Short nose, Narrow palate, Clinodactyly of the 5th finger, Hypoplastic labia mino...	OMIM:614222
Chops Syndrome	Short nose, High, narrow palate, Gastroesophageal reflux, Anteverted nares, Patent foramen ovale,...	OMIM:616368
Thanatophoric Dysplasia, Type I	Metaphyseal irregularity, Narrow chest, Short greater sciatic notch, Flared metaphysis, Wide-cupp...	OMIM:187600
Mullerian Duct Aplasia, Unilateral Renal Agenesis, And Cervicothoracic Somite Anomalies	Ectopic kidney, Unilateral renal agenesis, Cleft upper lip, Micrognathia, Cleft palate	OMIM:601076
Coffin-Lowry Syndrome	Sensorineural hearing impairment, Pectus carinatum, Short metacarpal, Kyphosis, Pectus excavatum,...	OMIM:303600
Thumb Deformity-Alopecia-Pigmentation Anomaly Syndrome	Triphalangeal thumb, Finger syndactyly, Everted lower lip vermilion, Abnormal dental morphology, ...	ORPHA:2251
Weismann-Netter Syndrome	Abnormal fibula morphology, Abnormal femur morphology, Abnormal tibia morphology, Abnormal hip bo...	ORPHA:3344
3Mc Syndrome 1	Atrial septal defect, Caudal appendage, Clinodactyly of the 5th finger, Single interphalangeal cr...	OMIM:257920
Lathosterolosis	Bilobate gallbladder, 2-4 toe cutaneous syndactyly, 2-3 toe cutaneous syndactyly, Short nose, Ani...	OMIM:607330
Thrombocytopenia 11 With Multiple Congenital Anomalies And Dysmorphic Facies	Retrognathia, Dental crowding, Ventricular hypertrophy, Pulmonic stenosis, Leukopenia, Syndactyly...	OMIM:620654
Autosomal Dominant Intellectual Disability-Craniofacial Anomalies-Cardiac Defects Syndrome	Gastroesophageal reflux, Cryptorchidism, Intestinal malrotation, Downturned corners of mouth, Cle...	ORPHA:457193
Adams-Oliver Syndrome 1	Pulmonic stenosis, Cleft upper lip, Aortic valve stenosis, Cleft palate, Pulmonary artery stenosi...	OMIM:100300
Spondylometaphyseal Dysplasia, Sedaghatian Type	Narrow greater sciatic notch, Cone-shaped epiphyses of the phalanges of the hand, Short ribs, Fla...	OMIM:250220
Hydrolethalus Syndrome 1	Abnormal lung lobation, Midline defect of the nose, Adrenal gland dysgenesis, Hypospadias, Talipe...	OMIM:236680
17Q24.2 Microdeletion Syndrome	Abnormality of the wrist, Cubitus valgus, Recurrent otitis media, Short philtrum, Tooth malpositi...	ORPHA:529962
Combined Oxidative Phosphorylation Deficiency 25	Short nose, Reduced circulating growth hormone concentration, Anteverted nares, Aspiration pneumo...	OMIM:616430
Auriculocondylar Syndrome 4	Question mark ear, Glossoptosis, Narrow mouth, Hearing impairment, Micrognathia, Cleft palate	OMIM:620457
Chromosome 10Q26 Deletion Syndrome	Radial deviation of finger, Sandal gap, Prominent fingertip pads, Pectus excavatum, Long philtrum...	OMIM:609625
Peroxisome Biogenesis Disorder 8A (Zellweger)	Elevated circulating aspartate aminotransferase concentration, Jaundice, Glossoptosis, Hepatomegaly	OMIM:614876
Short-Rib Thoracic Dysplasia 15 With Polydactyly	Supernumerary tooth, Cone-shaped epiphysis, Atrioventricular canal defect, Aplasia of the epiglot...	OMIM:617088
Cleft Lip-Retinopathy Syndrome	Non-midline cleft of the upper lip	ORPHA:1995
Yunis-Varon Syndrome	Rocker bottom foot, Clitoral hypertrophy, Broad secondary alveolar ridge, Absent sternal ossifica...	ORPHA:3472
Myhre Syndrome	Gingival cleft, Large iliac wing, Joint stiffness, Bifid uvula, Unilateral cleft lip, Hypogonadis...	ORPHA:2588
X-Linked Mandibulofacial Dysostosis	High palate, Pectus excavatum, Pulmonic stenosis, Abnormal mitral valve morphology, Micrognathia,...	ORPHA:1131
Craniometadiaphyseal Dysplasia	Osteopenia, Genu valgum, Cubitus valgus, Flared metaphysis, Dental crowding, Scoliosis, Wormian b...	OMIM:269300
Lethal Short-Limb Skeletal Dysplasia, Al Gazali Type	Platyspondyly, Bilateral talipes equinovarus, Atresia of the external auditory canal, Mesomelia, ...	OMIM:601356
Mucopolysaccharidosis, Type Vi	Kyphoscoliosis, Cervical myelopathy, Hypoplastic iliac wing, Pectus carinatum, Flared iliac wing,...	OMIM:253200
Thoraco-Abdominal Enteric Duplication	Hepatomegaly, Missing ribs, Intestinal malrotation, Camptodactyly of finger, Duodenal stenosis	ORPHA:1759
Noonan Syndrome 2	Abnormal coronary artery origin, Prominent fingertip pads, Cardiomyopathy, Pectus excavatum, Pulm...	OMIM:605275
Rnf13-Related Severe Early-Onset Epileptic Encephalopathy	Short nose, Narrow nasal bridge, Hypodontia, Metacarpophalangeal joint contracture, Scoliosis, Se...	ORPHA:544503
Microcephaly-Albinism-Digital Anomalies Syndrome	Short distal phalanx of finger, Aplasia/Hypoplasia of the distal phalanges of the toes, Micrognathia	ORPHA:2513
Short-Rib Thoracic Dysplasia 11 With Or Without Polydactyly	Lateral clavicle hook, Bell-shaped thorax, Narrow chest, Respiratory insufficiency, Short long bo...	OMIM:615633
Congenital Disorder Of Glycosylation, Type Iia	Retrognathia, Proximal placement of thumb, Sensorineural hearing impairment, Pectus excavatum, Ev...	OMIM:212066
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 3	Polydactyly, Short nose, Recurrent otitis media, Hypospadias, Low-set ears, Hypoplastic ischia, C...	OMIM:616910
Chromosome 2Q35 Duplication Syndrome	2-3 toe syndactyly, Cutaneous syndactyly, 3-4 finger syndactyly, Distal symphalangism of hands	OMIM:185900
Muenke Syndrome	Radial deviation of finger, Recurrent otitis media, Cone-shaped epiphyses of the phalanges of the...	OMIM:602849
Hypogonadism With Low-Grade Mental Deficiency And Microcephaly	Male hypogonadism, 2-4 toe syndactyly, Syndactyly	OMIM:241000
Crisponi/Cold-Induced Sweating Syndrome 1	Limited elbow extension, Retrognathia, Radial deviation of finger, Wide nose, Anteverted nares, E...	OMIM:272430
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1	Short nose, Anteverted nares, Bronchiectasis, Protruding tongue, Sinusitis, Micrognathia, T lymph...	OMIM:242860
Acromesomelic Dysplasia 2B	Fibular aplasia, Fibular hypoplasia, Deformed tarsal bones, Rhizomelia, Short metatarsal, Absent ...	OMIM:228900
Culler-Jones Syndrome	Diabetes insipidus, Anterior pituitary hypoplasia, Postaxial polydactyly, Cleft upper lip, Cleft ...	OMIM:615849
Desmosterolosis	Ambiguous genitalia, male, Short nose, Rhizomelia, Gingival fibromatosis, Anteverted nares, Low-s...	OMIM:602398
Sillence Syndrome	Flat acetabular roof, Large iliac wing, Broad metatarsal, Broad thumb, Abnormal morphology of the...	ORPHA:3168
Alpha-Heavy Chain Disease	Abnormal small intestine morphology, Splenomegaly, Hepatomegaly, Ascites	ORPHA:100025
Micro Syndrome	Short nose, Low-set, posteriorly rotated ears, Short philtrum, Hypoplasia of penis, Anteverted na...	ORPHA:2510
Polyneuropathy-Intellectual Disability-Acromicria-Premature Menopause Syndrome	Premature ovarian insufficiency, Furrowed tongue, Micromelia, Camptodactyly of finger, Brachydact...	ORPHA:2928
Stickler Syndrome, Type Ii	High, narrow palate, Anteverted nares, Arachnodactyly, Micrognathia, Pierre-Robin sequence, Bifid...	OMIM:604841
Autosomal Dominant Myopia-Midfacial Retrusion-Sensorineural Hearing Loss-Rhizomelic Dysplasia Syndrome	Rhizomelia, Narrow chest, Sensorineural hearing impairment, Femoral bowing, Glossoptosis, Microme...	ORPHA:440354
Orofaciodigital Syndrome Xv	Anteverted nares, Postaxial hand polydactyly, Low-set ears, Duplication of phalanx of hallux, Mid...	OMIM:617127
Bone Fragility With Contractures, Arterial Rupture, And Deafness	Osteopenia, Short nose, Platyspondyly, Anteverted nares, Scoliosis, Elbow flexion contracture, Se...	OMIM:612394
Congenital Myopathy 10B, Mild Variant	Scoliosis, Hyperlordosis, High palate, Knee contracture, Achilles tendon contracture, Recurrent p...	OMIM:620249
Neurodevelopmental Disorder With Dysmorphic Facies, Sleep Disturbance, And Brain Abnormalities	Thick lower lip vermilion, Hypospadias, Dysplastic pulmonary valve, Mandibular prognathia, Vesico...	OMIM:619103
Postsynaptic Congenital Myasthenic Syndromes	Scoliosis, Thoracic kyphoscoliosis, High palate, Triceps weakness, Abnormality of the musculature...	ORPHA:98913
Infantile-Onset X-Linked Spinal Muscular Atrophy	Kyphoscoliosis, Ankle flexion contracture, Respiratory insufficiency, Tongue fasciculations, Elbo...	ORPHA:1145
Focal Dermal Hypoplasia	Midclavicular aplasia, Mixed hearing impairment, Short ribs, Short metacarpal, Myelomeningocele, ...	OMIM:305600
Postaxial Oligodactyly, Tetramelic	Aplasia of the 5th metacarpal, Lunate-triquetral fusion, Absent fifth metatarsal, Single transver...	OMIM:176240
Growth Retardation, Developmental Delay, And Facial Dysmorphism	Thin vermilion border, Retrognathia, Anteverted nares, Hypertrophic cardiomyopathy, Protruding to...	OMIM:612938
Intellectual Developmental Disorder, X-Linked 99, Syndromic, Female-Restricted	Abnormal cortical gyration, Short foot, Anal atresia, Postaxial polydactyly, Bifid uvula, Hydrone...	OMIM:300968
Acrofacial Dysostosis, Catania Type	Hypospadias, Single transverse palmar crease, Carious teeth, Short palm, Cleft palate, Micrognath...	OMIM:101805
Mucopolysaccharidosis Type 6	Abnormal metaphysis morphology, Chronic otitis media, Genu valgum, Thick lower lip vermilion, Thi...	ORPHA:583
Stickler Syndrome	Chronic otitis media, Reduced bone mineral density, Spondylolisthesis, Abnormal form of the verte...	ORPHA:828
Neurodevelopmental Disorder With Neuromuscular And Skeletal Abnormalities	Short nose, Pes cavus, Hammertoe, Scoliosis, Exaggerated cupid's bow, High palate, Hearing impair...	OMIM:619833
Coffin-Siris Syndrome	Wide nasal base, Abnormal heart morphology, Wide mouth, Broad philtrum, Short 5th finger, Clinoda...	ORPHA:1465
Renal-Hepatic-Pancreatic Dysplasia 1	Situs inversus totalis, Enlarged kidney, Hyperechogenic pancreas, Polycystic kidney dysplasia, Pa...	OMIM:208540
Coffin-Siris Syndrome 1	Duodenal ulcer, Clitoral hypertrophy, Retrognathia, Sandal gap, Dislocated radial head, Abnormal ...	OMIM:135900
Spondyloepiphyseal Dysplasia Tarda, Autosomal Dominant	Kyphoscoliosis, Barrel-shaped chest, Arthritis, Knee pain, Pectus carinatum, Hypoplasia of the od...	OMIM:184100
Toluene Embryopathy	Thin vermilion border, Short nose, Micrognathia, Hydronephrosis, Smooth philtrum, Hypoplasia of t...	ORPHA:1920
Short Rib-Polydactyly Syndrome, Verma-Naumoff Type	Hypoplasia of penis, Short ribs, Urethrovaginal fistula, Long philtrum, Postaxial hand polydactyl...	ORPHA:93271
Ehlers-Danlos Syndrome, Dermatosparaxis Type	Osteopenia, Recurrent mandibular subluxations, Spontaneous neonatal pneumothorax, Frontal open bi...	OMIM:225410
Ventricular Septal Defect 1	Atrioventricular canal defect, Pulmonic stenosis, Tetralogy of Fallot, Atrial septal defect, Vent...	OMIM:614429
Hurler Syndrome	Calvarial hyperostosis, Kyphosis, Flared iliac wing, Joint stiffness, Biconcave vertebral bodies,...	OMIM:607014
Microcephalic Primordial Dwarfism, Dauber Type	Abnormal carpal morphology, Clinodactyly of the 5th finger, Madelung deformity, Microtia, Short m...	ORPHA:319675
Nemaline Myopathy 8	Respiratory failure, Flexion contracture, Death in infancy	OMIM:615348
Parietal Foramina 1	Cleft upper lip, Cleft palate	OMIM:168500
Brachydactyly, Preaxial, With Hallux Varus And Thumb Abduction	Short metatarsal, Short hallux, Hitchhiker thumb, Short metacarpal, Hallux varus, Short thumb, Sh...	OMIM:112450
Nabais Sa-De Vries Syndrome, Type 1	Short nose, Sacral dimple, Clinodactyly of the 5th finger, Hearing impairment, Prominent nasal br...	OMIM:618828
Chondrodysplasia Punctata 2, X-Linked Dominant	Kyphoscoliosis, Rhizomelia, Epiphyseal stippling, Scoliosis, Hemivertebrae, Stippled calcificatio...	OMIM:302960
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy	Impaired lymphocyte transformation with phytohemagglutinin, B lymphocytopenia, Restrictive cardio...	OMIM:619313
Severe X-Linked Intellectual Disability, Gustavson Type	Rocker bottom foot, Short nose, Triphalangeal thumb, Vesicoureteral reflux, Calcaneovalgus deform...	ORPHA:3078
Townes-Brocks Syndrome	Hypoplasia of penis, Abnormal vagina morphology, Absent toe, Abnormal pinna morphology, Microtia,...	ORPHA:857
Alagille Syndrome 1	Hypoplasia of the ulna, Long nose, Butterfly vertebral arch, Hemivertebrae, Low-set ears, Abnorma...	OMIM:118450
Campomelia, Cumming Type	Hepatomegaly, Abnormal intestine morphology, Pancreatic cysts, Bowing of the long bones, Micromel...	ORPHA:1318
Cranioectodermal Dysplasia 3	Widely spaced teeth, Nephronophthisis, Rhizomelia, Sandal gap, 2-3 toe syndactyly, Everted lower ...	OMIM:614099
Naxos Disease	Palmoplantar keratoderma, Cleft upper lip, Cardiomyopathy	ORPHA:34217
Monosomy 9Q22.3	Ovarian fibroma, Pectus excavatum, Kyphosis, Accelerated skeletal maturation, Umbilical hernia, L...	ORPHA:77301
Ophthalmomandibulomelic Dysplasia	Fibular hypoplasia, Ulnar deviated club hands, Decreased mobility 3rd-5th fingers, Temporomandibu...	OMIM:164900
Limb-Mammary Syndrome	Hypoplastic nipples, Split hand, Camptodactyly, Split foot, Bifid uvula, Cleft palate, Syndactyly...	OMIM:603543
Dubowitz Syndrome	Rectal prolapse, Anal stenosis, Abnormal female external genitalia morphology, Hypospadias, Sanda...	ORPHA:235
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 1	Microdontia, Ureterocele, Split foot, Abnormal nasopharynx morphology, Decreased response to grow...	OMIM:129900
Intellectual Disability, Birk-Barel Type	High, narrow palate, Limited elbow flexion/extension, Short philtrum, Narrow nasal bridge, Inciso...	ORPHA:166108
Metaphyseal Dysostosis, Impaired Intellectual Development, And Conductive Deafness	Short ribs, Short long bone, Cupped ribs, Metaphyseal irregularity, Joint hypermobility, Genu var...	OMIM:250420
Congenital Myopathy 1B, Autosomal Recessive	Pulmonary hypoplasia, Recurrent respiratory infections, High palate	OMIM:255320
Insulin-Like Growth Factor I, Resistance To	Retrognathia, Short finger, Radial deviation of finger, Increased circulating insulin-like growth...	OMIM:270450
2Q31.1 Microdeletion Syndrome	Sandal gap, Everted lower lip vermilion, Long philtrum, Abnormal fibula morphology, Abnormal tibi...	ORPHA:251014
Aortic Arch Interruption	Transposition of the great arteries, Patent ductus arteriosus, Aortic valve atresia, Aortopulmona...	ORPHA:2299
Pontocerebellar Hypoplasia, Type 4	Death in infancy, Respiratory failure, Congenital contracture	OMIM:225753
Ciliary Dyskinesia, Primary, 52	Situs inversus totalis, Transposition of the great arteries, Patent ductus arteriosus, Recurrent ...	OMIM:620570
Mesomelia-Synostoses Syndrome	Narrow foot, Partial fusion of proximal row of carpal bones, Tibial bowing, Mesomelia, Ulnar devi...	OMIM:600383
Trisomy 10P	Retrognathia, Abnormal heart morphology, Multiple renal cysts, Dysphagia, Abnormality of the hand...	ORPHA:171929
17Q12 Microduplication Syndrome	Finger syndactyly, Tracheoesophageal fistula, Cleft palate, Toe syndactyly, Atrial septal defect	ORPHA:261272
Saul-Wilson Syndrome	Cone-shaped epiphyses of the phalanges of the hand, Sensorineural hearing impairment, Pectus cari...	OMIM:618150
Spondyloepiphyseal Dysplasia, Nishimura Type	Short nose, Elevated circulating parathyroid hormone level, Delayed epiphyseal ossification, Cone...	OMIM:618618
Van Der Woude Syndrome 2	Cleft upper lip, Cleft palate, Anodontia, Hypodontia, Dental malocclusion, Lip pit	OMIM:606713
2Q37 Microdeletion Syndrome	Bilateral single transverse palmar creases, Thin vermilion border, Clinodactyly of the 5th finger...	ORPHA:1001
Fanconi Anemia, Complementation Group N	Hypoplasia of the radius, Unilateral renal agenesis, Ectopic kidney, Pelvic kidney, Anal atresia,...	OMIM:610832
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 3	Hypoplastic sacrum, Microdontia, Ureterocele, Split foot, Abnormal nasopharynx morphology, Urethr...	OMIM:604292
Osteogenesis Imperfecta	Intestinal obstruction, Mixed hearing impairment, Reduced bone mineral density, Abnormal femur mo...	ORPHA:666
Developmental And Epileptic Encephalopathy 85 With Or Without Midline Brain Defects	Retrognathia, Solitary median maxillary central incisor, Dental crowding, Contracture of the prox...	OMIM:301044
Pseudohypoparathyroidism, Type Ia	Short finger, Short metatarsal, Delayed eruption of teeth, Short metacarpal, Osteoporosis, Subcut...	OMIM:103580
Amastia, Bilateral, With Ureteral Triplication And Dysmorphism	Cubitus valgus, Ureteral triplication, High palate, Absent nipple, Pectus excavatum, Congenital h...	OMIM:104350
Radial Hypoplasia, Triphalangeal Thumbs, Hypospadias, And Maxillary Diastema	Hypoplasia of the radius, Nonopposable triphalangeal thumb, Diastema, Hypospadias	OMIM:179250
Isolated Osteopoikilosis	Sclerotic foci within carpal bones, Abnormal femur morphology, Tarsal sclerosis, Abnormal long bo...	ORPHA:166119
Oculocerebrocutaneous Syndrome	Orofacial cleft, Talipes, Finger syndactyly, Abnormal pinna morphology, Missing ribs, Congenital ...	ORPHA:1647
Hypogonadotropic Hypogonadism 9 With Or Without Anosmia	Hyposmia, Anosmia, Decreased testicular size, Cleft palate, Bifid nose, Cleft lip, Hypogonadotrop...	OMIM:614838
Immunodeficiency 40	Rectal fistula, Hepatomegaly, Macrovesicular hepatic steatosis, Focal active colitis, Elevated ci...	OMIM:616433
Adnp Syndrome	Sandal gap, Abnormal finger morphology, Microtia, Broad thumb, Abnormal toe morphology, Umbilical...	ORPHA:404448
Pancreatic insufficiency, combined exocrine	Exocrine pancreatic insufficiency, Anal atresia	OMIM:260450
Odontochondrodysplasia 2 With Hearing Loss And Diabetes	Osteopenia, Retrognathia, Clinodactyly of the 5th finger, Cone-shaped epiphyses of the phalanges ...	OMIM:619269
Brachydactyly Type B2	Finger syndactyly, Short distal phalanx of toe, Synostosis of carpal bones, Short toe, Symphalang...	ORPHA:140908
Thoracic Dysplasia-Hydrocephalus Syndrome	Abnormal metaphysis morphology, Narrow chest, Depressed nasal ridge, Conductive hearing impairmen...	ORPHA:1861
Craniometadiaphyseal Dysplasia, Wormian Bone Type	Osteopenia, Short tubular bones of the hand, Abnormal foot morphology, Abnormal diaphysis morphol...	ORPHA:85184
5Q14.3 Microdeletion Syndrome	Short nose, Short philtrum, Anteverted nares, Open mouth, Toe syndactyly	ORPHA:228384
Tbck-Related Intellectual Disability Syndrome	Sensorineural hearing impairment, Pectus excavatum, Delayed skeletal maturation, Long philtrum, C...	ORPHA:488632
Nephronophthisis 2	Situs inversus totalis, Enlarged kidney, Nephronophthisis, Chronic tubulointerstitial nephritis, ...	OMIM:602088
Mandibuloacral Dysplasia With Type B Lipodystrophy	Short nose, Hyperinsulinemia, Dental crowding, Premature loss of teeth, Short clavicles, Narrow m...	OMIM:608612
Campomelic Dysplasia	Tracheobronchomalacia, Femoral bowing, Tibial bowing, Short long bone, Kyphosis, Hip dislocation,...	ORPHA:140
Short-Rib Thoracic Dysplasia 9 With Or Without Polydactyly	Clinodactyly of the 2nd finger, Cone-shaped epiphyses of the phalanges of the hand, Short ribs, M...	OMIM:266920
Solitary Median Maxillary Central Incisor	Decreased response to growth hormone stimulation test, Solitary median maxillary central incisor,...	OMIM:147250
Diamond-Blackfan Anemia 7	Triphalangeal thumb, Macrocytic anemia, Increased mean corpuscular volume, Vesicoureteral reflux,...	OMIM:612562
Saethre-Chotzen Syndrome	Long nose, Microtia, Partial duplication of the distal phalanx of the 2nd finger, Partial duplica...	OMIM:101400
Blepharophimosis-Intellectual Disability Syndrome, Ohdo Type	Recurrent otitis media, Widely spaced teeth, Microtia, Neonatal asphyxia, Microdontia, Hearing im...	ORPHA:2728
Cholesteryl Ester Storage Disease	Cirrhosis, Jaundice, Hepatomegaly, Esophageal varix, Splenomegaly, Hepatic failure	ORPHA:75234
16P11.2P12.2 Microdeletion Syndrome	Bilateral single transverse palmar creases, Orofacial cleft, Long nose, Short nose, Proximal plac...	ORPHA:261211
Plaa-Associated Neurodevelopmental Disorder	Rocker bottom foot, Short nose, Low-set, posteriorly rotated ears, Respiratory insufficiency, Hyp...	ORPHA:521426
X-Linked Intellectual Disability-Cardiomegaly-Congestive Heart Failure Syndrome	Kyphoscoliosis, Abnormal thumb morphology, Mandibular prognathia, Overfolded helix, Everted lower...	ORPHA:324410
Rothmund-Thomson Syndrome, Type 2	Kyphoscoliosis, Microdontia, Agenesis of permanent teeth, Hypogonadism, Osteoporosis, Cryptorchid...	OMIM:268400
Lymphedema-Distichiasis Syndrome	Chylothorax, Cleft upper lip, Micrognathia, Cleft palate, Tetralogy of Fallot, Patent ductus arte...	OMIM:153400
Aortic Valve Disease 1	Ventricular septal defect, Aortic valve stenosis, Mitral stenosis, Tetralogy of Fallot, Aortic va...	OMIM:109730
Sclerosteosis	Diaphyseal undertubulation, Abnormality of the nose, Craniofacial hyperostosis, Finger syndactyly...	ORPHA:3152
Hurler-Scheie Syndrome	Scoliosis, Kyphosis, Hand pain, Joint stiffness, Umbilical hernia, Camptodactyly of finger, Micro...	OMIM:607015
6P22 Microdeletion Syndrome	Abnormal palate morphology, Finger syndactyly, Hydronephrosis, Patent ductus arteriosus, Clinodac...	ORPHA:251046
Lacrimoauriculodentodigital Syndrome 1	Mixed hearing impairment, Microtia, Microdontia, Bilateral triphalangeal thumbs, Absent radius, D...	OMIM:149730
Larsen Syndrome	Broad distal phalanx of finger, Large joint dislocations, Finger syndactyly, Respiratory insuffic...	ORPHA:503
Tetramelic Monodactyly	Split foot, Foot monodactyly, Split hand, Hand monodactyly	OMIM:187510
Oligomeganephronia	Decreased glomerular filtration rate, Unilateral renal agenesis, Abnormal medullary pyramid morph...	ORPHA:2260
Silver-Russell Syndrome 1	Decreased response to growth hormone stimulation test, Clinodactyly of the 5th finger, Hypospadia...	OMIM:180860
Mitchell-Riley Syndrome	Annular pancreas, Biliary atresia, Meckel diverticulum, Pancreatic hypoplasia, Cholestasis, Ascit...	OMIM:615710
Moebius Syndrome	Aplasia of the pectoralis major muscle, Everted lower lip vermilion, Microdontia, Death in infanc...	ORPHA:570
Progressive External Ophthalmoplegia-Myopathy-Emaciation Syndrome	Spinal rigidity, Kyphosis, Hypergonadotropic hypogonadism, Respiratory insufficiency due to muscl...	ORPHA:352447
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 1, With Or Without Fractures	Kyphoscoliosis, Broad distal phalanx of finger, Dislocated radial head, Short long bone, Large il...	OMIM:271640
Say Syndrome	Tapered finger, Micrognathia, Cleft palate, Proximal renal tubular acidosis, Short distal phalanx...	OMIM:181180
Harel-Yoon Syndrome	Short nose, Pectus carinatum, Scoliosis, Mandibular prognathia, Micrognathia, Hip dysplasia, Tali...	OMIM:617183
Temple Syndrome	Maturity-onset diabetes of the young, Short philtrum, Wide nose, Anteverted nares, High palate, D...	OMIM:616222
Alg1-Cdg	Protein-losing enteropathy, Scoliosis, Limitation of joint mobility, Kyphosis, Respiratory failure	ORPHA:79327
Vater/Vacterl Association	Occipital encephalocele, Hypoplasia of the radius, Abnormal vertebral morphology, Preaxial polyda...	OMIM:192350
Intellectual Developmental Disorder, X-Linked, Syndromic, Turner Type	Pectus excavatum, Delayed skeletal maturation, Wide mouth, Long philtrum, Craniosynostosis, Overl...	OMIM:309590
Congenital Rubella Syndrome	Abnormal metaphysis morphology, Anemia, Type I diabetes mellitus, Thrombocytopenia, Splenomegaly,...	ORPHA:290
Global Developmental Delay-Visual Anomalies-Progressive Cerebellar Atrophy-Truncal Hypotonia Syndrome	Micrognathia, Prominent fingertip pads, Anal atresia	ORPHA:480898
Congenital Heart Defects, Multiple Types, 4	Atrioventricular canal defect, Aortic valve stenosis, Coarctation of aorta, Tetralogy of Fallot, ...	OMIM:615779
Neurodevelopmental Disorder With Brain Anomalies, Seizures, And Scoliosis	Osteopenia, Long nose, Short nose, Slender long bone, Scoliosis, High palate, Low-set ears, Pectu...	OMIM:618590
Beta-Ureidopropionase Deficiency	Elevated urinary ureidoisobutyric acid level, Bifid scrotum, Elevated urinary N-carbamyl-beta-ami...	OMIM:613161
Branchiooculofacial Syndrome	Proximal placement of thumb, Sensorineural hearing impairment, Microtia, Hyperlordosis, Kyphosis,...	OMIM:113620
Syndactyly, Type V	Enlarged proximal interphalangeal joints, 4-5 toe syndactyly, Absent distal interphalangeal creas...	OMIM:186300
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly	Protein-losing enteropathy, Thyroid lymphangiectasia, Pancreatic lymphangiectasis, High palate, P...	OMIM:235255
Radial Ray Hypoplasia With Choanal Atresia	Hypoplasia of the radius, Choanal atresia, Distally placed thumb, Short thumb, Choanal stenosis, ...	OMIM:179270
Combined Oxidative Phosphorylation Deficiency 51	Hearing impairment, Respiratory failure, Neonatal respiratory distress, Aspiration pneumonia	OMIM:619057
Isolated Dandy-Walker Malformation	Cleft palate, Tetralogy of Fallot	ORPHA:217
Otospondylomegaepiphyseal Dysplasia, Autosomal Recessive	Large tarsal bones, Flared metaphysis, Anteverted nares, Short long bone, Aplasia/Hypoplasia of t...	OMIM:215150
Intellectual Developmental Disorder, X-Linked 21	Short nose, Dental crowding, Mandibular prognathia, Tented upper lip vermilion, Open mouth, Macro...	OMIM:300143
Arthrogryposis, Distal, Type 3	Single transverse palmar crease, High palate, Ulnar deviation of the hand or of fingers of the ha...	OMIM:114300
Msh3-Related Attenuated Familial Adenomatous Polyposis	Neoplasm of the rectum, Colorectal polyposis, Stomach cancer, Ovarian dermoid cyst, Renal cyst, C...	ORPHA:480536
Borjeson-Forssman-Lehmann Syndrome	Orofacial cleft, Abnormal hip bone morphology, Hypoplasia of penis, Decreased testicular size, Ca...	ORPHA:127
Neurodegeneration And Seizures Due To Copper Transport Defect	Pneumothorax, Glandular hypospadias, Pulmonary hypoplasia, Cardiomegaly, Short femur, Short tibia...	OMIM:620306
Early-Onset Progressive Diffuse Brain Atrophy-Microcephaly-Muscle Weakness-Optic Atrophy Syndrome	Respiratory failure requiring assisted ventilation, Widely spaced teeth, Pectus carinatum, Scolio...	ORPHA:496641
Orofaciodigital Syndrome Type 6	Preaxial polydactyly, Finger clinodactyly, Mesoaxial polydactyly, Tongue nodules, High palate, Ce...	ORPHA:2754
Cerebrocostomandibular Syndrome	Clinodactyly of the 5th finger, Bell-shaped thorax, Hydranencephaly, Meningocele, Tracheomalacia,...	ORPHA:1393
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria	Polydactyly, Orofacial cleft, Hypospadias, Recurrent respiratory infections, Sensorineural hearin...	ORPHA:17
Autosomal Recessive Faciodigitogenital Syndrome	Short nose, Long philtrum, Clinodactyly of the 5th finger, Finger syndactyly, Anteverted nares, O...	ORPHA:1974
Cleidocranial Dysplasia 1	Spondylolysis, Delayed pubic bone ossification, Spondylolisthesis, Cone-shaped epiphyses of the p...	OMIM:119600
Cystic Fibrosis	Absent vas deferens, Steatorrhea, Rectal prolapse, Male infertility, Elevated circulating hepatic...	ORPHA:586
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome	Mixed hearing impairment, Cervical C2/C3 vertebral fusion, Sensorineural hearing impairment, Glos...	ORPHA:444077
Ectrodactyly-Polydactyly Syndrome	Abnormal metacarpal morphology, Finger syndactyly, Postaxial hand polydactyly, Ectrodactyly, Camp...	ORPHA:1892
Toriello-Carey Syndrome	Abnormal palate morphology, Short nose, Aganglionic megacolon, Cardiomyopathy, High palate, Pulmo...	ORPHA:3338
Multiple Mitochondrial Dysfunctions Syndrome 3	Retrognathia, Respiratory insufficiency, High palate, Respiratory failure, Arthrogryposis multipl...	OMIM:615330
Lathosterolosis	Short nose, Talipes, Meningocele, Hypoplasia of penis, Anteverted nares, Gingival overgrowth, Pos...	ORPHA:46059
Coproporphyria, Hereditary	Elevated urinary delta-aminolevulinic acid, Jaundice, Hepatomegaly, Increased urinary porphobilin...	OMIM:121300
Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Anomalies	Rocker bottom foot, Short nose, Respiratory insufficiency, Single transverse palmar crease, Pectu...	OMIM:617527
Vertebral Hypersegmentation And Orofacial Anomalies	Anteverted nares, Scapular winging, Unilateral cleft palate, Pectus excavatum, Micrognathia, Unil...	OMIM:619122
Septopreoptic Holoprosencephaly	Precocious puberty, Perisylvian polymicrogyria, Anteriorly placed anus, Dysphagia	ORPHA:280195
Greig Cephalopolysyndactyly Syndrome	Finger syndactyly, Postaxial hand polydactyly, Broad thumb, Broad hallux phalanx, Preaxial hand p...	ORPHA:380
H Syndrome	Delayed puberty, Enlarged kidney, Recurrent pharyngitis, Lymphadenopathy, Hallux valgus, Gingival...	ORPHA:168569
Braddock-Carey Syndrome 2	Retrognathia, Pierre-Robin sequence, Wide mouth, Cleft palate, Thrombocytopenia, Bulbous nose, Cl...	OMIM:619981
Neutropenia, Severe Congenital, 10, Autosomal Recessive	Anorectal abscess	OMIM:620534
Spondyloepimetaphyseal Dysplasia, X-Linked	Cone-shaped epiphyses of the phalanges of the hand, Pectus carinatum, Delayed ossification of car...	OMIM:300106
Ring Chromosome 13 Syndrome	Aplasia/hypoplasia involving bones of the hand, Hypoplasia of the gallbladder, Hypospadias, Aplas...	ORPHA:96176
Short Stature-Micrognathia Syndrome	Retrognathia, Penoscrotal hypospadias, Rhizomelia, Gastroesophageal reflux, 2-3 toe syndactyly, H...	OMIM:617164
Congenital Disorder Of Glycosylation, Type Il	Short nose, Polycystic kidney dysplasia, Pericardial effusion, Wide mouth, Splenomegaly, Long phi...	OMIM:608776
Crane-Heise Syndrome	Hypoplasia of penis, Finger syndactyly, Anteverted nares, Cryptorchidism, Micrognathia, Cleft pal...	ORPHA:1512
Matthew-Wood Syndrome	Annular pancreas, Aplasia/Hypoplasia of the pancreas, Vesicoureteral reflux, Abnormal spleen morp...	ORPHA:2470
Foxg1 Syndrome Due To 14Q12 Microdeletion	Short nose, Abnormal antihelix morphology, Scoliosis, Mandibular prognathia, Everted lower lip ve...	ORPHA:261144
Dubin-Johnson Syndrome	Jaundice, Hepatomegaly, Abnormal gastric mucosa morphology, Biliary tract abnormality, Abnormalit...	ORPHA:234
Robin Sequence With Distinctive Facial Appearance And Brachydactyly	Aplasia of the distal phalanx of the 5th toe, Everted lower lip vermilion, Long philtrum, Short f...	OMIM:608670
Glycine Encephalopathy 2	Respiratory failure	OMIM:620398
Mesomelic Dysplasia, Savarirayan Type	Fibular aplasia, Glenoid fossa hypoplasia, Narrow iliac wing, Bowing of the long bones, Flared ra...	ORPHA:85170
Beaulieu-Boycott-Innes Syndrome	Long nose, Unilateral renal agenesis, Low hanging columella, Carious teeth, Velopharyngeal insuff...	OMIM:613680
Hyperphosphatasia With Impaired Intellectual Development Syndrome 3	Short nose, Aganglionic megacolon, Anal stenosis, Shortening of all distal phalanges of the finge...	OMIM:614207
Hypertelorism-Microtia-Facial Clefting Syndrome	Microtia, Bifid nasal tip, Median cleft palate, Atresia of the external auditory canal, Conductiv...	ORPHA:2213
Summitt Syndrome	Short 4th metacarpal, Genu valgum, Clinodactyly of the 5th finger, Wide nose, Finger syndactyly, ...	ORPHA:3210
Fg Syndrome 5	Short nose, Hypospadias, Anteverted nares, Long philtrum, Diastema, Depressed nasal bridge	OMIM:300581
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome	11 pairs of ribs, Respiratory insufficiency, Delayed cranial suture closure, Microtia, Low-set ea...	OMIM:620005
Orofaciodigital Syndrome X	Fibular aplasia, Retrognathia, Finger aplasia, Cleft palate, Preaxial hand polydactyly, Coalescen...	OMIM:165590
Brachydactyly Type B	Finger syndactyly, Short metacarpal, Synostosis of carpal bones, 2nd-5th toe middle phalangeal hy...	ORPHA:93383
Congenital Myopathy 2C, Severe Infantile, Autosomal Dominant	Death in childhood, Chylothorax, Mandibular prognathia, High palate, Death in infancy, Joint cont...	OMIM:620278
Fibromuscular Dysplasia, Multifocal	Pulmonary artery aneurysm, Dilatation of celiac artery, Dental crowding, High palate, Tortuous ce...	OMIM:619329
Faundes-Banka Syndrome	Long ear, Flexion contracture of toe, Lumbar hemivertebrae, Microtia, Low-set ears, Premature the...	OMIM:619376
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal	Narrow palate, Abnormal foot morphology, Tapered toe, Respiratory insufficiency, Elbow flexion co...	OMIM:608836
Osteogenesis Imperfecta, Type Vii	Crumpled long bones, Pectus excavatum, Death in infancy, Multiple prenatal fractures, Dentinogene...	OMIM:610682
Marshall Syndrome	Short nose, Thick lower lip vermilion, Genu valgum, Anteverted nares, High palate, Abnormality of...	ORPHA:560
Ocular Anomalies-Axonal Neuropathy-Developmental Delay Syndrome	Short nose, Pectus carinatum, Scoliosis, Mandibular prognathia, Micrognathia, Hip dysplasia, Cryp...	ORPHA:496790
Male Hypergonadotropic Hypogonadism-Intellectual Disability-Skeletal Anomalies Syndrome	Abnormal form of the vertebral bodies, Hypoplasia of penis, Hemivertebrae, Abnormal rib morpholog...	ORPHA:2234
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 2	Microdontia, Death in infancy, Thoracic hypoplasia, Triangular mouth, Anteverted nares, Metopic s...	OMIM:300868
Holoprosencephaly-Postaxial Polydactyly Syndrome	Hypospadias, Hypoplasia of penis, Postaxial hand polydactyly, Anal atresia, Intestinal malrotatio...	ORPHA:2166
Restrictive Dermopathy	Atrial septal defect, Transposition of the great arteries, Ureteral duplication, Dextrocardia, Hy...	ORPHA:1662
Branchio-Oculo-Facial Syndrome	Orofacial cleft, Non-midline cleft of the upper lip, High palate, Everted lower lip vermilion, Mi...	ORPHA:1297
Ciliary Dyskinesia, Primary, 20	Situs inversus totalis, Atelectasis, Dextrocardia, Bronchiectasis, Aortic valve stenosis, Pulmona...	OMIM:615067
Neurodevelopmental Disorder With Dysmorphic Facies, Impaired Speech, And Hypotonia	Short nose, Death in childhood, Low insertion of columella, Anteverted nares, Underdeveloped nasa...	OMIM:619005
Intellectual Developmental Disorder, Autosomal Dominant 53	Genu valgum, Microtia, Intestinal malrotation, Wide mouth, Joint hypermobility, Short femur, Cryp...	OMIM:617798
Eem Syndrome	Widely spaced teeth, Finger syndactyly, Selective tooth agenesis, Ectrodactyly, Microdontia, Abno...	ORPHA:1897
Arboleda-Tham Syndrome	Chronic otitis media, Sandal gap, Small earlobe, Bifid nasal tip, Underdeveloped tragus, Pectus e...	OMIM:616268
Pontine Tegmental Cap Dysplasia	Ankle clonus, Sensorineural hearing impairment, Scoliosis, Hemivertebrae, Rib fusion	OMIM:614688
Isotretinoin-Like Syndrome	Abnormal aortic arch morphology, Gastroesophageal reflux, Abnormal cardiac ventricle morphology, ...	ORPHA:2306
Fraser Syndrome 3	Abnormal lung lobation, Stillbirth, Wide nose, Hypoplasia of penis, Low-set ears, Micrognathia, S...	OMIM:617667
Giant Cell Arteritis	Gastrointestinal infarctions, Hematuria, Recurrent pharyngitis, Mediastinal lymphadenopathy, Diab...	ORPHA:397
Ohdo Syndrome, Sbbys Variant	Hypospadias, Microdontia, Cryptorchidism, Hypothyroidism, Micrognathia, Cleft palate, Long hallux...	OMIM:603736
Hallermann-Streiff Syndrome	Hyperlordosis, Pectus excavatum, Everted lower lip vermilion, Joint hypermobility, Narrow nose, D...	OMIM:234100
Tatton-Brown-Rahman Syndrome	Kyphoscoliosis, Widely-spaced maxillary central incisors, Mandibular prognathia, Short toe, Umbil...	ORPHA:404443
Zimmermann-Laband Syndrome 1	Short distal phalanx of toe, Wide mouth, Umbilical hernia, Long philtrum, Short distal phalanx of...	OMIM:135500
Marfanoid Habitus-Autosomal Recessive Intellectual Disability Syndrome	Abnormal bone ossification, Thin metacarpal cortices, Pectus excavatum, Delayed skeletal maturati...	ORPHA:2463
Santos Syndrome	Polydactyly, Preaxial polydactyly, Genu valgum, Oligodactyly, Metatarsus adductus, Postaxial poly...	OMIM:613005
Gillespie Syndrome	Truncus arteriosus	OMIM:206700
Congenital Fiber-Type Disproportion Myopathy	Kyphoscoliosis, Dental crowding, Hyperlordosis, Pectus excavatum, Respiratory insufficiency due t...	ORPHA:2020
Congenital Disorder Of Glycosylation, Type Iie	Retrognathia, Perimembranous ventricular septal defect, Short nose, Gastroesophageal reflux, Wide...	OMIM:608779
Cleft, Median, Of Upper Lip With Polyps Of Facial Skin And Nasal Mucosa	Nasal polyposis, Bifid uvula, High palate, Median cleft upper lip	OMIM:155145
Restrictive Dermopathy 1	Rocker bottom foot, Ureteral duplication, Hypospadias, Short clavicles, Narrow nasal ridge, Tempo...	OMIM:275210
Fetal Akinesia Deformation Sequence 1	Rocker bottom foot, High, narrow palate, Slender long bone, Narrow mouth, High palate, Wrist flex...	OMIM:208150
Trisomy 18	Narrow palate, Bilateral single transverse palmar creases, Short nose, Esophageal atresia, Abnorm...	ORPHA:3380
19P13.12 Microdeletion Syndrome	Thin vermilion border, Deep palmar crease, Hypospadias, Sandal gap, Clinodactyly of the 5th finge...	ORPHA:254346
Split-Hand/Foot Malformation With Long Bone Deficiency 1	Aplasia of the 3rd finger, Short hallux, Split hand, Absent tibia, Hand monodactyly, Split foot, ...	OMIM:119100
Branchiootic Syndrome 1	Retrognathia, Mixed hearing impairment, Sensorineural hearing impairment, Microtia, Low-set ears,...	OMIM:602588
Hereditary Motor And Sensory Neuropathy, Okinawa Type	Respiratory failure requiring assisted ventilation, Respiratory failure, Aspiration pneumonia	ORPHA:90117
Hypophosphatasia	Abnormal metaphysis morphology, Emphysema, Narrow chest, Respiratory insufficiency, Bowing of the...	ORPHA:436
Ctcf-Related Neurodevelopmental Disorder	Sandal gap, Joint contracture of the 5th finger, Prominent fingertip pads, Microdontia, Long phil...	ORPHA:363611
Polydactyly, Preaxial Iv	Preaxial polydactyly, Dysplastic distal thumb phalanges with a central hole, Duplication of thumb...	OMIM:174700
Feingold Syndrome 1	Everted lower lip vermilion, Tracheoesophageal fistula, Tricuspid atresia, Accessory spleen, Ante...	OMIM:164280
Renal Hypodysplasia/Aplasia 1	Retrognathia, Pulmonary hypoplasia, Proteinuria, Talipes equinovarus	OMIM:191830
Cri-Du-Chat Syndrome	Orofacial cleft, Thick lower lip vermilion, Hypospadias, Short philtrum, Gastroesophageal reflux,...	OMIM:123450
Hepatic Fibrosis-Renal Cysts-Intellectual Disability Syndrome	Short nose, Hearing abnormality, Clinodactyly of the 5th finger, Low-set, posteriorly rotated ear...	ORPHA:2031
Frontorhiny	Low-set, posteriorly rotated ears, Encephalocele, Scoliosis, Midline nasal groove, Hypoplastic fr...	ORPHA:391474
X-Linked Intellectual Disability-Cerebellar Hypoplasia-Spondylo-Epiphyseal Dysplasia Syndrome	Delayed puberty, Everted lower lip vermilion, Long philtrum, Short finger, Hypospadias, Cryptorch...	ORPHA:459070
Witteveen-Kolk Syndrome	Radial deviation of finger, Proximal placement of thumb, Sensorineural hearing impairment, Delaye...	OMIM:613406
Kleefstra Syndrome Due To 9Q34 Microdeletion	Short nose, Hypoplasia of penis, Anteverted nares, Vesicoureteral reflux, Conotruncal defect, Eve...	ORPHA:96147
Thakker-Donnai Syndrome	Cervical C2/C3 vertebral fusion, Rectovaginal fistula, Anteverted nares, Hemivertebrae, Narrow mo...	ORPHA:1780
Chromosome 17Q12 Duplication Syndrome	Esophageal atresia, Cleft soft palate, Broad thumb, Micrognathia, Smooth philtrum, Brachydactyly,...	OMIM:614526
Holoprosencephaly 9	Solitary median maxillary central incisor, Bilateral cleft palate, Hypoplasia of the premaxilla, ...	OMIM:610829
Lymphedema-Distichiasis Syndrome	Abnormality of the pulmonary vasculature, Cleft upper lip, Cleft palate, Proteinuria, Patent duct...	ORPHA:33001
Combined Immunodeficiency-Enteropathy Spectrum	Autoimmune hemolytic anemia, Gastrointestinal atresia, Rectal abscess, Abnormal ductus choledochu...	ORPHA:436252
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 2	Long nose, Hypospadias, Oral-pharyngeal dysphagia, 11 pairs of ribs, Dental crowding, Oligodontia...	OMIM:619184
Polysyndactyly With Cardiac Malformation	Anteverted nares, Renal cyst, Duplication of phalanx of hallux, Syndactyly, Preaxial hand polydac...	OMIM:263630
Encephalopathy Due To Sulfite Oxidase Deficiency	Long philtrum, Aminoaciduria, Short nose, Thick vermilion border	ORPHA:833
Van Der Woude Syndrome	Abnormal salivary gland morphology, Cleft upper lip, Cleft palate, Hypodontia, Lower lip pit, Lip...	ORPHA:888
Desbuquois Dysplasia 2	Dental crowding, Short long bone, Flat acetabular roof, Short metacarpal, Pectus excavatum, Broad...	OMIM:615777
Helsmoortel-Van Der Aa Syndrome	Sandal gap, Hyperlordosis, Prominent fingertip pads, Pectus excavatum, Everted lower lip vermilio...	OMIM:615873
Treacher Collins Syndrome 3	Microtia, Conductive hearing impairment, Micrognathia, Cleft palate, Malar flattening, Hypoplasia...	OMIM:248390
Chime Syndrome	Aplasia/Hypoplasia of the phalanges of the toes, Microdontia, Aplasia/Hypoplasia of the phalanges...	ORPHA:3474
Andersen Cardiodysrhythmic Periodic Paralysis	Short mandibular rami, Clinodactyly of the 5th toe, Dental crowding, Short metacarpal, Prominent ...	OMIM:170390
Supravalvular Aortic Stenosis	Pulmonic stenosis, Pulmonary artery stenosis, Peripheral arterial stenosis	OMIM:185500
Czech Dysplasia	Intervertebral space narrowing, Short metatarsal, Flat capital femoral epiphysis, Scoliosis, Thor...	OMIM:609162
Hereditary Mixed Polyposis Syndrome	Hyperplastic colonic polyposis, Neoplasm of the rectum, Colorectal polyposis, Neoplasm of the gas...	ORPHA:157794
Leukodystrophy, Hypomyelinating, 10	Thin vermilion border, Short nose, Anteverted nares, Arachnodactyly, Malar flattening, Smooth phi...	OMIM:616420
Developmental Malformations-Deafness-Dystonia Syndrome	Orofacial cleft, Death in early adulthood, Femoral retroversion, Sensorineural hearing impairment...	ORPHA:79107
Chromosome 14Q11-Q22 Deletion Syndrome	Elevated circulating thyroid-stimulating hormone concentration, Short nose, Hip subluxation, Gast...	OMIM:613457
Short-Rib Thoracic Dysplasia 17 With Or Without Polydactyly	Lateral clavicle hook, Narrow chest, Short ribs, Postaxial hand polydactyly, Acetabular spurs, De...	OMIM:617405
Cardiac Valvular Dysplasia 1	Left atrial enlargement, Pulmonic stenosis, Mitral valve prolapse, Hypoplasia of right ventricle,...	OMIM:212093
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies	Small pituitary gland, Dental crowding, Thyroid hypoplasia, Internally rotated shoulders, Agenesi...	OMIM:619503
Portal Hypertension, Noncirrhotic, 2	Hepatomegaly, Elevated circulating hepatic transaminase concentration, Esophageal varix, Hepatoce...	OMIM:619463
Myotubular Myopathy With Abnormal Genital Development	Ambiguous genitalia, male, Retrognathia, Atelectasis, Hypospadias, Glandular hypospadias, Thin ri...	OMIM:300219
Prolidase Deficiency	Short nose, Anemia, High palate, Hyperimidodipeptiduria, Micrognathia, Recurrent pneumonia, Throm...	OMIM:170100
Ischiocoxopodopatellar Syndrome With Or Without Pulmonary Arterial Hypertension	Tarsal synostosis, Patellar hypoplasia, Sandal gap, Flat capital femoral epiphysis, High palate, ...	OMIM:147891
Neurodevelopmental Disorder With Variable Motor And Language Impairment	Single transverse palmar crease, Scoliosis, Prominent fingertip pads, High palate, Low-set ears, ...	OMIM:617804
Stolerman Neurodevelopmental Syndrome	Clinodactyly of the 5th finger, Mandibular prognathia, Hypoplastic nipples, Abnormality of the de...	OMIM:618505
Fanconi Anemia, Complementation Group Q	Anteriorly placed anus, Esophageal atresia, Biliary atresia, Absent thumb	OMIM:615272
Oliver Syndrome	Clinodactyly of the 5th finger, Short philtrum, Small earlobe, Scoliosis, Elbow flexion contractu...	ORPHA:2920
Cardiofaciocutaneous Syndrome 1	Pectus carinatum, Pectus excavatum, Delayed skeletal maturation, Deep palmar crease, Anteverted n...	OMIM:115150
Bresek Syndrome	Aganglionic megacolon, Scoliosis, Hemivertebrae, Postaxial hand polydactyly, Low-set ears, Decrea...	ORPHA:85284
Hereditary Butyrylcholinesterase Deficiency	Respiratory failure requiring assisted ventilation, Respiratory failure	ORPHA:132
Isolated Polycystic Liver Disease	Gastrointestinal hemorrhage, Hepatomegaly, Gastroesophageal reflux, Polycystic liver disease, Mul...	ORPHA:2924
Microtia With Nasolacrimal Duct Imperforation And Eye Coloboma	Microtia	OMIM:611863
Ablepharon Macrostomia Syndrome	Thin vermilion border, Abnormal female external genitalia morphology, Hypoplasia of penis, Anteve...	ORPHA:920
Cranioectodermal Dysplasia 4	Thin vermilion border, Broad distal phalanx of finger, Broad phalanx of the toes, Anteverted nare...	OMIM:614378
Rubinstein-Taybi Syndrome 1	Retrognathia, Broad distal phalanx of finger, Dislocated radial head, Dental crowding, Hypoplasti...	OMIM:180849
Exstrophy-Epispadias Complex	Penoscrotal transposition, Epispadias, Urinary incontinence, Bifid penis, Anal stenosis, Abnormal...	ORPHA:322
Hypomandibular Faciocranial Dysostosis	Hypoplasia of the maxilla, Micrognathia, Malar flattening, Choanal stenosis, Patent ductus arteri...	OMIM:241310
X-Linked Cerebral-Cerebellar-Coloboma Syndrome	Short nose, Retrognathia, Meckel diverticulum, Thick nasal alae, Low-set ears, Micrognathia, Supe...	ORPHA:163961
Microphthalmia, Syndromic 11	Cleft upper lip, Cleft palate, Agenesis of pineal gland	OMIM:614402
Talonavicular Coalition	Clinodactyly of the 5th finger, Short hallux, Proximal/middle symphalangism of 5th finger, Abnorm...	OMIM:186750
Developmental And Epileptic Encephalopathy 80	Long philtrum, Triphalangeal thumb, Abnormal pinna morphology, High palate, Overfolded helix, Low...	OMIM:618580
Lacrimoauriculodentodigital Syndrome 3	Widely spaced teeth, Microtia, Hearing impairment, Carious teeth, Partial duplication of thumb ph...	OMIM:620193
8Q22.1 Microdeletion Syndrome	Abnormal nostril morphology, Sandal gap, Finger syndactyly, Abnormality of the dentition, Depress...	ORPHA:178303
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 5	Hydroureter, Portal hypertension, Microcolon, Intestinal malrotation, Hydronephrosis, Megacystis,...	OMIM:619431
Amyotrophic Lateral Sclerosis 28	Respiratory failure	OMIM:620452
Congenital Diaphragmatic Hernia	Intestinal malrotation, Pulmonary hypoplasia	ORPHA:2140
3Mc Syndrome 3	Tessier cleft, Preaxial polydactyly, Penoscrotal hypospadias, Cleft upper lip, Clinodactyly, Clef...	OMIM:248340
Fanconi Anemia, Complementation Group I	Hypoplasia of the radius, Fused cervical vertebrae, Short 1st metacarpal, Conductive hearing impa...	OMIM:609053
Opitz Gbbb Syndrome	Hypospadias, Ectopic anus, Vesicoureteral reflux, High palate, Bifid scrotum, Tracheoesophageal f...	ORPHA:2745
Silver-Russell Syndrome Due To Maternal Uniparental Disomy Of Chromosome 7	Dental crowding, Microdontia, Abnormal heart morphology, Syndactyly, Narrow joint spaces of the e...	ORPHA:96182
Carey-Fineman-Ziter Syndrome 1	Retrognathia, Spinal rigidity, Pectoralis hypoplasia, Talipes equinovarus, Trismus, Respiratory i...	OMIM:254940
Brachydactyly-Syndactyly Syndrome	Finger syndactyly, Oligodactyly, Camptodactyly, Short phalanx of finger, Syndactyly, Brachydactyl...	OMIM:610713
Congenital Bile Acid Synthesis Defect Type 1	Gastrointestinal hemorrhage, Jaundice, Elevated circulating hepatic transaminase concentration, C...	ORPHA:79301
Ectodermal Dysplasia-Intellectual Disability-Central Nervous System Malformation Syndrome	Retrognathia, Abnormal fibula morphology, Short nose, Sandal gap, Hypoplasia of penis, Abnormal d...	ORPHA:1812
Monosomy 22	Thin vermilion border, Retrognathia, Clinodactyly of the 5th finger, Hypochromic microcytic anemi...	ORPHA:96123
Hurler Syndrome	Everted lower lip vermilion, Death in infancy, Abnormal epiphysis morphology, Abnormal clavicle m...	ORPHA:93473
Dpm1-Cdg	U-Shaped upper lip vermilion, High, narrow palate, External genital hypoplasia, Sandal gap, Campt...	ORPHA:79322
Hennekam Syndrome	Retrognathia, Arteriovenous malformation, Ectopic kidney, Tooth agenesis, Lymphangioma, Splenomeg...	ORPHA:2136
Mosaic Variegated Aneuploidy Syndrome 1	Short nose, Hypospadias, Triangular mouth, Multicystic kidney dysplasia, Wide nose, Anteverted na...	OMIM:257300
Heart And Brain Malformation Syndrome	High, narrow palate, Thick lower lip vermilion, Gastroesophageal reflux, Interrupted aortic arch,...	OMIM:616920
Intellectual Developmental Disorder With Macrocephaly, Seizures, And Speech Delay	Microtia	OMIM:618158
Leopard Syndrome 1	Delayed puberty, Limited elbow movement, Hypoplasia of the ovary, Pectus excavatum, Pulmonic sten...	OMIM:151100
Hypomelanosis Of Ito	Radial deviation of finger, Thick lower lip vermilion, Irregularly spaced teeth, Hand polydactyly...	OMIM:300337
Brachydactyly Type E	Aplasia/Hypoplasia of the distal phalanx of the hallux, Type E brachydactyly, Short metatarsal, S...	ORPHA:93387
Achondrogenesis, Type Ii	Short tubular bones of the hand, Stillbirth, Abnormal foot morphology, Barrel-shaped chest, Hypop...	OMIM:200610
Developmental And Epileptic Encephalopathy 71	Respiratory insufficiency, Respiratory failure	OMIM:618328
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome	Bifid uvula, Craniosynostosis, Scoliosis, Abnormal helix morphology, Oligodontia, Furrowed tongue...	ORPHA:453499
Trisomy 9P	Bilateral single transverse palmar creases, Clinodactyly of the 5th finger, Dental crowding, Non-...	ORPHA:236
Surfactant Metabolism Dysfunction, Pulmonary, 3	Reticular pattern on pulmonary HRCT, Paraseptal emphysema, Honeycomb lung, Crazy paving pattern, ...	OMIM:610921
Deeah Syndrome	Retrognathia, Death in adolescence, Death in infancy, Delayed skeletal maturation, Long philtrum,...	OMIM:619004
Wolcott-Rallison Syndrome	Neonatal insulin-dependent diabetes mellitus, Iron deficiency anemia, Lymphocytosis, Central hypo...	ORPHA:1667
19P13.13 Microdeletion Syndrome	Short nose, Sandal gap, Functional abnormality of the gastrointestinal tract, Anteverted nares, N...	ORPHA:357001
Shiga Toxin-Associated Hemolytic Uremic Syndrome	Acute kidney injury, Rectal prolapse, Pancreatitis, Acute colitis, Anuria, Intestinal perforation...	ORPHA:90038
Peho Syndrome	Retrognathia, Short nose, Tented upper lip vermilion, Open mouth, Tapered finger	OMIM:260565
Paganini-Miozzo Syndrome	Thin vermilion border, Microtia, Mandibular prognathia, Low-set ears, Downturned corners of mouth...	OMIM:301025
Frontofacionasal Dysplasia	Tessier cleft, Short nose, Non-midline cleft of the upper lip, Dimple on nasal tip, Bifid nasal t...	ORPHA:1791
Budd-Chiari Syndrome	Intestinal obstruction, Gastrointestinal hemorrhage, Cirrhosis, Gastrointestinal infarctions, Jau...	ORPHA:131
Metaphyseal Anadysplasia 2	Micromelia, Metaphyseal widening, Short femoral neck, Metaphyseal irregularity, Bowing of the leg...	OMIM:613073
Osteogenesis Imperfecta, Type Iii	Slender long bone, Scoliosis, Tibial bowing, Thin ribs, Kyphosis, Biconcave vertebral bodies, Mul...	OMIM:259420
Neurodevelopmental Disorder With Microcephaly, Impaired Language, Epilepsy, And Gait Abnormalities	Retrognathia, Widely spaced teeth, Pectus excavatum, Arachnodactyly, Syndactyly, Clinodactyly	OMIM:619092
Ciliary Dyskinesia, Primary, 5	Respiratory insufficiency due to defective ciliary clearance, Recurrent otitis media, Recurrent r...	OMIM:608647
Intellectual Developmental Disorder, X-Linked 98	Thin vermilion border, Long nose, Urinary incontinence, Clinodactyly of the 5th finger, Short nos...	OMIM:300912
Cerebrooculonasal Syndrome	Solitary median maxillary central incisor, Broad philtrum, Long philtrum, Craniosynostosis, Narro...	OMIM:605627
Pelviscapular Dysplasia	Stenosis of the external auditory canal, Abnormal pinna morphology, Abnormality of the joint spac...	ORPHA:93333
Odontotrichoungual-Digital-Palmar Syndrome	Short first metatarsal, Single transverse palmar crease, Mandibular prognathia, Short distal phal...	OMIM:601957
Familial Congenital Mirror Movements	Fused cervical vertebrae, Hypogonadotropic hypogonadism	ORPHA:238722
X-Linked Myotubular Myopathy-Abnormal Genitalia Syndrome	Blind vagina, Retrognathia, Penoscrotal hypospadias, Glandular hypospadias, Respiratory insuffici...	ORPHA:456328
Cole-Carpenter Syndrome	Abnormal metaphysis morphology, Crumpled long bones, Abnormal form of the vertebral bodies, Delay...	ORPHA:2050
Loeys-Dietz Syndrome 1	Retrognathia, Pulmonary artery aneurysm, Arterial tortuosity, Descending thoracic aorta aneurysm,...	OMIM:609192
Microcephaly-Cleft Palate-Abnormal Retinal Pigmentation Syndrome	Retrognathia, Mandibular prognathia, Camptodactyly of finger, Micrognathia, Bifid uvula, Cleft pa...	ORPHA:2521
Charcot-Marie-Tooth Disease, Axonal, Type 2S	Scoliosis, Areflexia of lower limbs, Areflexia of upper limbs, Talipes equinovarus, Tongue atrophy	OMIM:616155
Lethal Congenital Contracture Syndrome 9	Anteverted nares, Wrist flexion contracture, Micrognathia, Ulnar deviation of the hand, Pulmonary...	OMIM:616503
Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome	Bicuspid aortic valve, Atrial septal defect, Short nose, Patent foramen ovale, High palate, Conge...	ORPHA:457279
Mulibrey Nanism	Recurrent lower respiratory tract infections, Wide nose, Absent frontal sinuses, Single transvers...	OMIM:253250
Garg-Mishra Progeroid Syndrome	Narrow chest, Slender long bone, Dental crowding, Thin ribs, Persistent open anterior fontanelle,...	OMIM:620601
Craniosynostosis-Anal Anomalies-Porokeratosis Syndrome	Tarsal synostosis, Hypospadias, Ectopic anus, Anal atresia, Micrognathia, Cleft palate, Aplastic ...	ORPHA:85199
Immunodeficiency 49	Impaired lymphocyte transformation with phytohemagglutinin, Short philtrum, T lymphocytopenia, Pu...	OMIM:617237
Cranioectodermal Dysplasia 2	Retrognathia, Short ribs, Everted lower lip vermilion, Microdontia, Pectus excavatum, Mesomelia, ...	OMIM:613610
Cardiofacioneurodevelopmental Syndrome	Atrioventricular canal defect, Clinodactyly of the 5th finger, Camptodactyly, Cryptorchidism, Pul...	OMIM:619123
Distal Duplication 17Q	Genu valgum, Rhizomelia, Short philtrum, Accessory spleen, Vesicoureteral reflux, High palate, Ar...	ORPHA:3379
Ehlers-Danlos Syndrome, Musculocontractural Type, 1	Pectus excavatum, Intestinal malrotation, Arachnodactyly, Abnormal duodenum morphology, Umbilical...	OMIM:601776
Marfan Syndrome	Retrognathia, Dental crowding, Pectus excavatum, Arachnodactyly, Equinus calcaneus, Mitral valve ...	OMIM:154700
Tyrosinemia Type 1	Hepatomegaly, Generalized aminoaciduria, Hepatocellular carcinoma, Acute hepatic failure, Splenom...	ORPHA:882
Jacobsen Syndrome	Atrial septal defect, Short nose, Annular pancreas, Clinodactyly of the 5th finger, Hypospadias, ...	OMIM:147791
Nivelon-Nivelon-Mabille Syndrome	Bell-shaped thorax, Distal clavicular thinning, Narrow chest, Short metacarpal, Micromelia, Male ...	OMIM:600092
Diamond-Blackfan Anemia 15 With Mandibulofacial Dysostosis	Mixed hearing impairment, Sensorineural hearing impairment, Microtia, Stenosis of the external au...	OMIM:606164
Microphthalmia, Syndromic 1	Radial deviation of finger, Dental crowding, Prominent fingertip pads, Pectus excavatum, Abnormal...	OMIM:309800
Pyruvate Dehydrogenase E1-Alpha Deficiency	Anteverted nares, Flared nostrils, Long philtrum, Respiratory failure, Wide nasal bridge	OMIM:312170
Cornelia De Lange Syndrome	Bilateral single transverse palmar creases, Proximal placement of thumb, Hypoplasia of penis, Sen...	ORPHA:199
Peho Syndrome	Short nose, Abnormal palate morphology, Anteverted nares, Abnormal pinna morphology, Gingival ove...	ORPHA:2836
Wildervanck Syndrome	Short neck, Fused cervical vertebrae, Congenital sensorineural hearing impairment, Meningocele	ORPHA:3456
Heart Defect-Tongue Hamartoma-Polysyndactyly Syndrome	Subvalvular aortic stenosis, 2-3 finger syndactyly, Patent ductus arteriosus, Cryptorchidism, Ham...	ORPHA:1338
Laron Syndrome	Delayed skeletal maturation, Short long bone, Limb undergrowth, Abnormal joint morphology	OMIM:262500
Kabuki Syndrome 2	Atrial septal defect, Short columella, Atrioventricular canal defect, Short 5th finger, Prominent...	OMIM:300867
Polymicrogyria With Or Without Vascular-Type Ehlers-Danlos Syndrome	Thin vermilion border, Retrognathia, Vascular dilatation, Short philtrum, Dental crowding, Narrow...	OMIM:618343
Pyknoachondrogenesis	Short iliac bones, Craniofacial hyperostosis, Abnormality of mouth shape, Abnormal iliac wing mor...	ORPHA:3003
Microcephaly 26, Primary, Autosomal Dominant	Short nose, Gingival overgrowth, Patent foramen ovale, Protruding tongue, Hydronephrosis, Recurre...	OMIM:619179
Holoprosencephaly 14	Proboscis, Aortic valve atresia, Anteverted nares, Cleft palate, Double outlet right ventricle, C...	OMIM:619895
Neurodevelopmental Disorder With Movement Abnormalities, Abnormal Gait, And Autistic Features	Short nose, Advanced eruption of teeth, Widely spaced teeth, Gastroesophageal reflux, Everted low...	OMIM:617865
Bannayan-Riley-Ruvalcaba Syndrome	Narrow palate, Short nose, Thyroid carcinoma, Arteriovenous malformation, Intestinal polyposis, W...	ORPHA:109
Acrofacial Dysostosis, Cincinnati Type	Retrognathia, Pulmonary artery aneurysm, Tracheobronchomalacia, Microtia, Femoral bowing, Median ...	OMIM:616462
Loeys-Dietz Syndrome 5	Retrognathia, Flexion contracture of toe, Pectus excavatum, Congenital finger flexion contracture...	OMIM:615582
Intellectual Developmental Disorder, Autosomal Dominant 66	Transposition of the great arteries, Clinodactyly of the 5th finger, Aortic root aneurysm, Pectus...	OMIM:619910
Klippel-Trénaunay Syndrome	Gastrointestinal hemorrhage, Abnormal tricuspid valve morphology, Hematuria, Venous insufficiency...	ORPHA:90308
Klippel-Feil Syndrome 3, Autosomal Dominant	Thoracic scoliosis, Cervical C3/C4 vertebral fusion, Cervical C5/C6 vertebrae fusion	OMIM:613702
Meester-Loeys Syndrome	Pulmonary artery aneurysm, Broad distal phalanx of finger, Aortic root aneurysm, Gingival overgro...	OMIM:300989
Amyotrophic Lateral Sclerosis 27, Juvenile	Pes cavus, Respiratory insufficiency, Tongue fasciculations, Scoliosis, Hyperlordosis, Scapular w...	OMIM:620285
Orofaciodigital Syndrome Type 3	Thoracic kyphosis, Postaxial hand polydactyly, Low-set ears, Pectus excavatum, Abnormality of the...	ORPHA:2752
Split-Hand With Congenital Nystagmus, Fundal Changes, And Cataracts	Split foot, Split hand, Hand monodactyly	OMIM:183800
Chronic Recurrent Multifocal Osteomyelitis 2, With Periostitis And Pustulosis	Osteopenia, Periostitis, Fused cervical vertebrae, Stomatitis, Broad ribs, Flaring of rib cage, O...	OMIM:612852
Leprechaunism	Enlarged kidney, Rectal prolapse, Clitoral hypertrophy, Hepatomegaly, Long penis, Hypercalciuria,...	ORPHA:508
Congenital Disorder Of Glycosylation, Type Iir	Decreased liver function, Jaundice, Elevated circulating hepatic transaminase concentration, Hypo...	OMIM:301045
Oculodentodigital Dysplasia, Autosomal Recessive	2-4 toe cutaneous syndactyly, Hypoplasia of the primary teeth, Long nose, Dental crowding, Long p...	OMIM:257850
Jaberi-Elahi Syndrome	Short nose, Protruding ear, Talipes equinovarus, Triangular mouth, Pectus carinatum, Scoliosis, L...	OMIM:617988
Khan-Khan-Katsanis Syndrome	Short nose, Ureteral duplication, Anemia, Triangular mouth, Patent foramen ovale, Vesicoureteral ...	OMIM:618460
X-Linked Intellectual Disability, Cantagrel Type	Gastroesophageal reflux, Short nose, Tented upper lip vermilion, Short philtrum	ORPHA:85277
Mitochondrial Complex Iv Deficiency, Nuclear Type 16	Short 5th toe, Short 2nd toe, Delayed skeletal maturation, Prominent nasal bridge, Short 5th fing...	OMIM:619060
Treacher Collins Syndrome 2	Retrognathia, Microtia, Choanal atresia, Fusion of middle ear ossicles, Conductive hearing impair...	OMIM:613717
Poikiloderma With Neutropenia	Retrognathia, Short nose, Palmoplantar keratoderma, Underdeveloped nasal alae, Recurrent bronchop...	OMIM:604173
Diamond-Blackfan Anemia 10	Microtia, Low-set ears, Choanal atresia, Hearing impairment, Atresia of the external auditory can...	OMIM:613309
Hardikar Syndrome	Hematemesis, Bilateral cleft palate, Intestinal malrotation, Unilateral cleft lip, Splenomegaly, ...	OMIM:301068
Parietal Foramina With Cleidocranial Dysplasia	Short clavicles, Widely patent fontanelles and sutures, Microtia	OMIM:168550
Developmental And Epileptic Encephalopathy 75	Short nose, Short philtrum, Anteverted nares, Cardiomyopathy, Open mouth, Wide nasal bridge	OMIM:618437
Neurodevelopmental Disorder With Microcephaly, Seizures, And Cortical Atrophy	Short nose, Ankle flexion contracture, Recurrent lower respiratory tract infections, Bilateral co...	OMIM:617802
Hallermann-Streiff Syndrome	Reduced bone mineral density, Short ribs, Glossoptosis, Rib exostoses, Choanal atresia, Abnormali...	ORPHA:2108
Diamond-Blackfan Anemia	Abnormality of the thenar eminence, Triphalangeal thumb, Hypospadias, Cleft soft palate, Microtia...	ORPHA:124
Gastrointestinal Stromal Tumor	Esophageal neoplasm, Intestinal obstruction, Neoplasm of the stomach, Gastrointestinal hemorrhage...	ORPHA:44890
Congenitally Uncorrected Transposition Of The Great Arteries	Abnormal ventriculoarterial connection, Abnormal coronary artery morphology, Maternal diabetes, A...	ORPHA:860
Split-Hand/Foot Malformation 2	Finger syndactyly, Split hand, Short metacarpal, Split foot, Short phalanx of finger	OMIM:313350
Marfan Syndrome	Retrognathia, Limited elbow movement, Dental crowding, Aortic tortuosity, Pectus excavatum, Arter...	ORPHA:558
Dermotrichic Syndrome	Short nose, Abnormal vertebral morphology, Aganglionic megacolon, Macrotia, Depressed nasal bridge	ORPHA:99688
Severe Microbrachycephaly-Intellectual Disability-Athetoid Cerebral Palsy Syndrome	Bilateral single transverse palmar creases, Abnormal palate morphology, Lip pit, Hypodontia, Scol...	ORPHA:1236
Bile Acid Synthesis Defect, Congenital, 1	Steatorrhea, Intrahepatic cholestasis, Cirrhosis, Jaundice, Hepatomegaly, Elevated circulating he...	OMIM:607765
Warburg Micro Syndrome 2	Short nose, Clinodactyly of the 5th toe, Clinodactyly of the 4th toe, Macrotia, Prominent nasal b...	OMIM:614225
Cartilage-Hair Hypoplasia	Limited elbow extension, Aganglionic megacolon, Anal stenosis, Esophageal atresia, Asymmetry of t...	OMIM:250250
Endove Syndrome, Limb-Only Type	Fibular hypoplasia, Disproportionate shortening of the tibia, Aplasia of the distal phalanges of ...	OMIM:619217
X-Linked Hypophosphatemia	Reduced bone mineral density, Sensorineural hearing impairment, Flared iliac wing, Abnormal epiph...	ORPHA:89936
Mayer-Rokitansky-Küster-Hauser Syndrome Type 2	Azoospermia, Vertebral segmentation defect, Bicornuate uterus, Abnormal rib morphology, Aplasia/h...	ORPHA:2578
Cutis Laxa, Autosomal Recessive, Type Iia	Short nose, Long philtrum, Anteverted nares, Scoliosis, High palate, Low-set ears, Narrow mouth, ...	OMIM:219200
Spondylometaphyseal Dysplasia With Cone-Rod Dystrophy	Narrow greater sciatic notch, Femoral bowing, Tibial bowing, Short metacarpal, Short long bone, C...	OMIM:608940
Wildervanck Syndrome	Hearing impairment, Fused cervical vertebrae, Abnormality of the outer ear	OMIM:314600
Hartsfield Syndrome	Hypospadias, Wide nose, Diabetes insipidus, Hypoplasia of the frontal bone, Ectrodactyly, Gonadot...	OMIM:615465
Common Variable Immunodeficiency	Elevated circulating hepatic transaminase concentration, Anal atresia, Gastrointestinal stroma tu...	ORPHA:1572
Silver-Russell Syndrome Due To A Point Mutation	Polydactyly, Clinodactyly of the 5th finger, Hypospadias, Ectrodactyly, Microphallus, Hypothyroid...	ORPHA:397590
Temtamy Syndrome	Long philtrum, Dental crowding, Short 2nd toe, Low-set ears, Hypoplasia of teeth, Micrognathia, B...	OMIM:218340
Glass Syndrome	Long nose, Dental crowding, Arachnodactyly, Long philtrum, Narrow nose, Anterior tibial bowing, C...	OMIM:612313
Asbestos Intoxication	Abnormal pulmonary interstitial morphology, Pleural thickening, Atelectasis, Clubbing of fingers,...	ORPHA:2302
Ring Chromosome 7 Syndrome	Small earlobe, Bifid uvula, Hypogonadism, Short 5th finger, Hypospadias, Short philtrum, Antevert...	ORPHA:1449
Visceral Neuropathy-Brain Anomalies-Facial Dysmorphism-Developmental Delay Syndrome	Retrognathia, Intestinal pseudo-obstruction, Finger syndactyly, Short palm, Arachnodactyly, Long ...	ORPHA:73246
Triphalangeal Thumbs With Brachyectrodactyly	Triphalangeal thumb, Short 2nd finger, Split hand, Split foot, Brachydactyly, Short 3rd toe	OMIM:190680
Werner Syndrome	Neoplasm of the oral cavity, Rocker bottom foot, Thyroid carcinoma, Gastrointestinal carcinoma, O...	ORPHA:902
Osteogenesis Imperfecta, Type Viii	Femoral bowing, Tibial bowing, Decreased skull ossification, Kyphosis, Short metacarpal, Multiple...	OMIM:610915
Chromosome 2Q37 Deletion Syndrome	Type E brachydactyly, Wide nose, Anteverted nares, Sensorineural hearing impairment, Short metaca...	OMIM:600430
Developmental Delay With Variable Intellectual Disability And Dysmorphic Facies	Retrognathia, Supernumerary nipple, Short philtrum, Joint contracture of the 5th finger, Single t...	OMIM:620098
Charcot-Marie-Tooth Disease, Type 4C	Pes cavus, Delayed brainstem auditory evoked response conduction time, Hammertoe, Tongue fascicul...	OMIM:601596
Osteopathia Striata-Cranial Sclerosis Syndrome	Abnormal metaphysis morphology, Retrognathia, High, narrow palate, Delayed eruption of teeth, Lar...	ORPHA:2780
Maternal Uniparental Disomy Of Chromosome 6	Increased serum testosterone level, Slender long bone, Cleft upper lip, Cleft palate, Thrombocyto...	ORPHA:96181
Isolated Cleft Lip	Situs inversus totalis, Supernumerary maxillary incisor, Talipes equinovarus, Non-midline cleft o...	ORPHA:199302
Cholestasis, Progressive Familial Intrahepatic, 2	Cirrhosis, Intrahepatic cholestasis, Hepatomegaly, Hepatocellular carcinoma, Intermittent jaundic...	OMIM:601847
Lacrimoauriculodentodigital Syndrome 2	Abnormal thumb morphology, Conical tooth, Microtia, Microdontia, Hearing impairment, Duplication ...	OMIM:620192
Maternal Uniparental Disomy Of Chromosome 2	Respiratory infections in early life, Decreased response to growth hormone stimulation test, Clin...	ORPHA:96179
Neurocardiofaciodigital Syndrome	Polydactyly, Thin vermilion border, Retrognathia, Double inlet left ventricle, Vesicoureteral ref...	OMIM:619869
Congenital Disorder Of Glycosylation, Type Ih	Decreased liver function, Protein-losing enteropathy, Hepatomegaly, Cholestasis, Ascites, Camptod...	OMIM:608104
Scedosporiosis	Pneumonia, Abnormal jejunum morphology, Pleuritis, Bronchitis, Pleural empyema, Sinusitis, Arthra...	ORPHA:449280
Myopathy, Myofibrillar, 7	Pes cavus, Spinal rigidity, Talipes equinovarus, Shoulder flexion contracture, Scoliosis, Elbow f...	OMIM:617114
Ablepharon-Macrostomia Syndrome	Clinodactyly of the 5th finger, Anteriorly placed anus, Aplastic zygomatic arch, Microtia, third ...	OMIM:200110
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation	Intestinal pseudo-obstruction, Sensorineural hearing impairment, Abnormality of primary teeth, To...	ORPHA:453504
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion	Intestinal pseudo-obstruction, Sensorineural hearing impairment, Abnormality of primary teeth, To...	ORPHA:352665
Cowden Syndrome 6	Scoliosis, High palate, Furrowed tongue, Kyphosis, Hamartomatous polyposis, Hearing impairment, V...	OMIM:615109
Lymphoproliferative Syndrome, X-Linked, 2	Hepatomegaly, Inflammation of the large intestine, Splenomegaly, Hepatitis, Colitis	OMIM:300635
Epidermolysis Bullosa, Junctional 1B, Severe	Enamel hypoplasia, Carious teeth, Pyloric stenosis, Syndactyly	OMIM:226700
Chromosome 8Q21.11 Deletion Syndrome	Short philtrum, Exaggerated cupid's bow, High palate, Short metacarpal, Camptodactyly, Downturned...	OMIM:614230
Cholestasis, Progressive Familial Intrahepatic, 10	Jaundice, Portal fibrosis, Hepatomegaly, Elevated circulating alanine aminotransferase concentrat...	OMIM:619868
Melkersson-Rosenthal Syndrome	Furrowed tongue	OMIM:155900
Laryngotracheoesophageal Cleft Type 4	Abnormal form of the vertebral bodies, Respiratory insufficiency, Tracheoesophageal fistula, Abno...	ORPHA:93941
Mesomelic Dysplasia, Savarirayan Type	Fibular aplasia, Fibular hypoplasia, Abnormality of the hand, Abnormal foot morphology, Anterior ...	OMIM:605274
Geleophysic Dysplasia 2	Short nose, Cone-shaped epiphysis, Respiratory insufficiency, Limitation of joint mobility, Joint...	OMIM:614185
Hypoglossia With Situs Inversus	Situs inversus totalis, Narrow mouth, High palate, Asplenia, Micrognathia, Microglossia, Hypodont...	OMIM:612776
Wiskott-Aldrich Syndrome	Hematemesis, Sinusitis, Hematochezia, Epistaxis, Abnormal platelet morphology, Lymphopenia, Neutr...	ORPHA:906
Neurogenic Thoracic Outlet Syndrome	Abnormal rib morphology	ORPHA:100073
X Small Rings	Bicuspid aortic valve, Clinodactyly of the 5th finger, Aortic root aneurysm, Upper limb undergrow...	ORPHA:96201
Hemochromatosis, Type 2B	Cirrhosis, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Secondary ameno...	OMIM:613313
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease	Hematemesis, Enlarged kidney, Tubulointerstitial fibrosis, Polycystic kidney dysplasia, Esophagea...	OMIM:263200
Rubinstein-Taybi Syndrome	Convex nasal ridge, Clinodactyly of the 5th finger, Finger syndactyly, High palate, Abnormality o...	ORPHA:783
Meckel Syndrome, Type 3	Polydactyly, Hepatomegaly, Postaxial hand polydactyly, Bile duct proliferation, Cleft palate, Hep...	OMIM:607361
Degcags Syndrome	Retrognathia, Abnormal spleen morphology, Pulmonic stenosis, Wide mouth, Syndactyly, Leukopenia, ...	OMIM:619488
Lung Agenesis, Congenital Heart Defects, And Thumb Anomalies Syndrome	Abnormal cardiac septum morphology, Coarctation of aorta, Bilateral lung agenesis, Patent ductus ...	OMIM:601612
Combined Oxidative Phosphorylation Deficiency 28	Respiratory failure	OMIM:616794
Diamond-Blackfan Anemia 8	Short nose, Macrocytic anemia, Increased mean corpuscular volume, Thick upper lip vermilion, Wide...	OMIM:612563
Hyper-Ige Syndrome 1, Autosomal Dominant, With Recurrent Infections	Duodenal ulcer, Rectal prolapse, Esophageal food impaction, Gastroesophageal reflux, Intestinal p...	OMIM:147060
8Q21.11 Microdeletion Syndrome	Abnormal metacarpal morphology, Short philtrum, Hypoplasia of penis, Finger syndactyly, Wide nose...	ORPHA:284160
Mitochondrial Short-Chain Enoyl-Coa Hydratase 1 Deficiency	Hearing impairment, Respiratory failure, Death in infancy	OMIM:616277
Chromosome 15Q11.2 Deletion Syndrome	Short finger, Single transverse palmar crease, Irregular dentition, Slender finger, Arachnodactyl...	OMIM:615656
Mucopolysaccharidosis, Type X	Beaking of vertebral bodies, Long philtrum, Genu valgum, Widely spaced teeth, Spatulate ribs, Bro...	OMIM:619698
Scalp-Ear-Nipple Syndrome	Small earlobe, Microtia, Underdeveloped tragus, Broad thumb, Bifid uvula, Anteverted nares, Poste...	OMIM:181270
Congenital Insensitivity To Pain With Severe Intellectual Disability	Rocker bottom foot, Congenital bilateral hip dislocation, Tibial bowing, Talipes equinovalgus, Mi...	ORPHA:453510
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1	Polymicrogyria, Hypoplastic male external genitalia, Type II lissencephaly, Agyria, Anal atresia,...	OMIM:236670
Microcephalic Primordial Dwarfism, Toriello Type	Abnormal rib morphology, Delayed skeletal maturation, Enamel hypoplasia, Downturned corners of mo...	ORPHA:2643
Lethal Acantholytic Erosive Disorder	Clinodactyly of the 5th finger, 4-5 finger syndactyly, Abnormal pinna morphology, Abnormal helix ...	ORPHA:158687
Immunodeficiency 9	Amelogenesis imperfecta, Recurrent aphthous stomatitis, Abnormal natural killer cell count, Stoma...	OMIM:612782
Pallister-Killian Syndrome	Everted lower lip vermilion, Intestinal malrotation, Aortic valve stenosis, Bifid uvula, Wide mou...	OMIM:601803
Pontocerebellar Hypoplasia, Type 10	Kyphoscoliosis, Short nose, Widely spaced teeth, Low hanging columella, Tapered finger, High pala...	OMIM:615803
Donnai-Barrow Syndrome	Short nose, Intestinal malrotation, Proteinuria, Ventricular septal defect, Depressed nasal bridge	ORPHA:2143
Hypertrichosis Cubiti	Rhizomelia, Abnormality of the elbow, Micromelia, Delayed skeletal maturation, Prominent nasal br...	ORPHA:2220
Okamoto Syndrome	Urinary incontinence, Aortic valve stenosis, Abnormal mitral valve morphology, Intestinal malrota...	ORPHA:2729
Mitochondrial Dna Depletion Syndrome 9 (Encephalomyopathic Type With Methylmalonic Aciduria)	Death in childhood, Respiratory insufficiency, Death in infancy, Hearing impairment, Neonatal dea...	OMIM:245400
Donnai-Barrow Syndrome	Short nose, Sensorineural hearing impairment, Low-set ears, Bicornuate uterus, Intestinal malrota...	OMIM:222448
Congenital Disorder Of Glycosylation, Type 2V	Retrognathia, Short philtrum, Gastroesophageal reflux, Low hanging columella, Underdeveloped nasa...	OMIM:619493
Noonan Syndrome-Like Disorder With Loose Anagen Hair 2	Pectus excavatum, Pulmonic stenosis, Bifid uvula, Long philtrum, Triangular mouth, Patent foramen...	OMIM:617506
Cronkhite-Canada Syndrome	Hepatomegaly, Intestinal polyposis, Stomach cancer, Tapered finger, Furrowed tongue, Hamartomatou...	ORPHA:2930
Myopathy, Myofibrillar, Fatal Infantile Hypertonic, Alpha-B Crystallin-Related	Respiratory insufficiency, Respiratory failure, Death in infancy	OMIM:613869
Microphthalmia With Linear Skin Defects Syndrome	Epispadias, Clitoral hypertrophy, Hypospadias, Abnormal fallopian tube morphology, Abnormal rectu...	ORPHA:2556
Pulmonary Hypertension, Primary, 1	Pulmonary artery vasoconstriction, Pulmonary aterial intimal fibrosis, Right ventricular hypertro...	OMIM:178600
Pierre Robin Sequence With Pectus Excavatum And Rib And Scapular Anomalies	Pectus excavatum, Abnormal rib morphology, Hypoplastic distal segments of scapulae, Micrognathia,...	OMIM:602196
Amyotrophic Lateral Sclerosis 12 With Or Without Frontotemporal Dementia	Respiratory failure, Tongue fasciculations, Tongue atrophy	OMIM:613435
Adams-Oliver Syndrome 5	Patent foramen ovale, Esophageal varix, Right atrial enlargement, Pulmonic stenosis, Syndactyly, ...	OMIM:616028
Muscular Dystrophy, Duchenne Type	Calf muscle pseudohypertrophy, Scoliosis, Hyperlordosis, Calf muscle hypertrophy, Hamstring contr...	OMIM:310200
Double Outlet Left Ventricle	Orofacial cleft, Pulmonary valve atresia, Double outlet left ventricle, Tricuspid atresia, Bicusp...	ORPHA:3427
Combined Oxidative Phosphorylation Deficiency 47	Hepatomegaly, Elevated circulating hepatic transaminase concentration, Short palm, Dysphagia, Toe...	OMIM:618958
Congenital Disorder Of Glycosylation, Type Ib	Steatorrhea, Protein-losing enteropathy, Cirrhosis, Hepatomegaly, Proximal tubulopathy, Renal cys...	OMIM:602579
Dilated Cardiomyopathy-Hypergonadotropic Hypogonadism Syndrome	Hypergonadotropic hypogonadism, Precocious puberty, Aplasia of the phalanges of the 3rd toe, Poly...	ORPHA:2229
Cowden Syndrome 5	Scoliosis, High palate, Furrowed tongue, Kyphosis, Hamartomatous polyposis, Hearing impairment, H...	OMIM:615108
Kindler Epidermolysis Bullosa	Short 4th metacarpal, Finger syndactyly, Phimosis, Urethral stricture, Esophagitis, Inflammation ...	ORPHA:2908
Cardiofaciocutaneous Syndrome	Short nose, Long philtrum, Genu valgum, Cubitus valgus, Low-set, posteriorly rotated ears, Deep p...	ORPHA:1340
Holoprosencephaly 7	Short nose, Midline defect of the nose, Solitary median maxillary central incisor, Hypoplastic na...	OMIM:610828
Tetramelic Deficiencies, Ectodermal Dysplasia, Deformed Ears, And Other Abnormalities	Hypoplastic nipples, Abnormality of the dentition, Cleft upper lip, Tetraamelia, Hypogonadism, Am...	OMIM:273400
Mayer-Rokitansky-Küster-Hauser Syndrome	Endometriosis, Abnormal form of the vertebral bodies, Aplasia of the uterus, Ectopic ovary, Verte...	ORPHA:3109
Nievergelt Syndrome	Pes cavus, Tarsal synostosis, Genu valgum, Metatarsus adductus, Radial head subluxation, Mesomeli...	OMIM:163400
Satoyoshi Syndrome	Abnormal metaphysis morphology, Abnormality of the wrist, Abnormal femur morphology, Abnormal hip...	ORPHA:3130
Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy	Atelectasis, Recurrent lower respiratory tract infections, Abnormality of the temporomandibular j...	ORPHA:258
Macrocephaly/Autism Syndrome	Short nose, Dilation of Virchow-Robin spaces, High palate, Splenomegaly, Lymphopenia, Long philtr...	OMIM:605309
Carpenter Syndrome 2	Retrognathia, Pectus excavatum, Broad thumb, Narrow naris, Long philtrum, Narrow palate, Transpos...	OMIM:614976
Granulomatous Disease, Chronic, Autosomal Recessive, 5	Perianal abscess, Anal fissure, Crohn's disease, Acute pancreatitis, Nephrotic syndrome, Hepatosp...	OMIM:618935
Galloway-Mowat Syndrome	Abnormal intervertebral disk morphology, Abnormality of the dentition, Camptodactyly of finger, M...	ORPHA:2065
Hemochromatosis, Type 2A	Cirrhosis, Hepatomegaly, Azoospermia, Infertility, Splenomegaly, Amenorrhea, Hypogonadotropic hyp...	OMIM:602390
Mirror Polydactyly-Vertebral Segmentation-Limbs Defects Syndrome	Split hand, Foot polydactyly, Aplasia of the thymus, Phocomelia, Duodenal atresia	ORPHA:3004
Ectodermal Dysplasia With Mental Retardation And Syndactyly	2-3 toe syndactyly, Wide nasal bridge, 3-4 finger syndactyly, Open mouth	OMIM:600906
Curry-Jones Syndrome	Anal stenosis, Intestinal pseudo-obstruction, Polymicrogyria, Triphalangeal hallux, Intestinal ma...	OMIM:601707
Autosomal Recessive Polycystic Kidney Disease	Enlarged kidney, Gastrointestinal hemorrhage, Biliary hyperplasia, Splenomegaly, Oliguria, Stage ...	ORPHA:731
Sprengel Deformity	Cervical segmentation defect, Spina bifida occulta, Scoliosis, Hemivertebrae, Shoulder muscle hyp...	OMIM:184400
Warsaw Breakage Syndrome	Clinodactyly of the 5th finger, Single transverse palmar crease, 2-3 toe syndactyly, High palate,...	OMIM:613398
Spondyloenchondrodysplasia	Pneumonia, Platyspondyly, Dental malocclusion, Delayed eruption of teeth, Arthritis, Pectus carin...	ORPHA:1855
Chondrodysplasia-Difference Of Sex Development Syndrome	Abnormal shoulder morphology, Narrow chest, Short metacarpal, Abnormal pelvic girdle bone morphol...	ORPHA:1422
Mednik Syndrome	Cirrhosis, Cholestasis, Microcolon, Volvulus, Hepatic fibrosis, Jejunal atresia	OMIM:609313
Hereditary Amyloidosis With Primary Renal Involvement	Decreased liver function, Intestinal obstruction, Gastrointestinal hemorrhage, Decreased glomerul...	ORPHA:85450
Fucosidosis	Beaking of vertebral bodies, Anterior beaking of thoracic vertebrae, Anterior beaking of lumbar v...	OMIM:230000
Contractures-Ectodermal Dysplasia-Cleft Lip/Palate Syndrome	Non-midline cleft of the upper lip, Cleft palate	ORPHA:1484
Proximal Symphalangism	Tarsal synostosis, Abnormality of the wrist, Clinodactyly of the 5th finger, Abnormal metacarpal ...	ORPHA:3250
Kawasaki Disease	Myocarditis, Cheilitis, Abnormal pulmonary interstitial morphology, Recurrent pharyngitis, Glossi...	ORPHA:2331
Lethal Congenital Contracture Syndrome 1	Micrognathia, Pulmonary hypoplasia	OMIM:253310
Congenital Lactic Acidosis, Saguenay-Lac-Saint-Jean Type	Respiratory failure, Abnormal reproductive system morphology	ORPHA:70472
Infantile Systemic Hyalinosis	Osteopenia, Steatorrhea, Gingival overgrowth, Osteoporosis, Micromelia, Joint stiffness, Camptoda...	ORPHA:2176
Hyperparathyroidism, Transient Neonatal	Osteopenia, Subperiosteal bone formation, Narrow chest, Anteverted nares, Recurrent fractures, Fr...	OMIM:618188
20P13 Microdeletion Syndrome	Polydactyly, Finger syndactyly, Prominent nasal bridge, Tented upper lip vermilion, Smooth philtr...	ORPHA:313781
Sclerosteosis 1	Sclerotic scapulae, Tooth malposition, Broad clavicles, Mandibular prognathia, Abnormal pelvic gi...	OMIM:269500
Orofacial Cleft 15	Palate fistula, Bilateral cleft palate, Single transverse palmar crease, Cryptorchidism, Bulbous ...	OMIM:616788
Noonan Syndrome	Juvenile myelomonocytic leukemia, Thick lower lip vermilion, Clinodactyly of the 5th finger, Abno...	ORPHA:648
Surfactant Metabolism Dysfunction, Pulmonary, 1	Clubbing, Intraalveolar phospholipid accumulation, Death in infancy, Neonatal death, Interlobular...	OMIM:265120
Congenital Myopathy 21 With Early Respiratory Failure	Respiratory failure, Spinal rigidity, Lipoid pneumonia	OMIM:620326
Eiken Syndrome	Delayed ossification of carpal bones, Eruption failure, Flat acetabular roof, Broad metatarsal, M...	OMIM:600002
Cholestasis, Progressive Familial Intrahepatic, 8	Cirrhosis, Jaundice, Hepatomegaly, Sclerosing cholangitis, Esophageal varix, Cholestasis, Portal ...	OMIM:619662
Humeroradial Synostosis	Humeroradial synostosis, Small earlobe, Microtia, Wide nasal bridge	OMIM:236400
Bile Acid Synthesis Defect, Congenital, 3	Steatorrhea, Intrahepatic cholestasis, Jaundice, Cirrhosis, Hepatomegaly, Ductal bile plugs, Elev...	OMIM:613812
Pituitary Hormone Deficiency, Combined Or Isolated, 1	Short nose, Decreased thyroid-stimulating hormone level, Reduced circulating prolactin concentrat...	OMIM:613038
Genitourinary And/Or Brain Malformation Syndrome	Kyphoscoliosis, Gonadal dysgenesis, Clitoral hypertrophy, Joint stiffness, Aplasia of the nasal b...	OMIM:618820
Telo2-Related Intellectual Disability-Neurodevelopmental Disorder	Kyphoscoliosis, Rocker bottom foot, Bilateral single transverse palmar creases, Pectus carinatum,...	ORPHA:488642
Thoracolaryngopelvic Dysplasia	Bell-shaped thorax, Hypoplastic iliac wing, Scoliosis, Short ribs, Hypoplastic pelvis, Irregular ...	OMIM:187760
Isotretinoin Embryopathy-Like Syndrome	Micrognathia, Cleft palate, Conotruncal defect	OMIM:243440
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome	Abnormality of the gastrointestinal tract, Hydroureter, Microcolon, Intestinal malrotation, Hypop...	ORPHA:2241
Cleft Palate-Congenital Heart Defect-Intellectual Disability Syndrome Due To 15Q14 Microdeletion	Short philtrum, Abnormality of the dentition, Cleft palate, Prominent nasal bridge, Smooth philtr...	ORPHA:261190
Craniofacial Dysmorphism, Skeletal Anomalies, And Impaired Intellectual Development Syndrome 2	Bilateral cleft lip, Pectus excavatum	OMIM:616994
Distal Deletion 6P	Orofacial cleft, Clinodactyly of the 5th finger, Short philtrum, Wide nose, Anteverted nares, Und...	ORPHA:96125
Myoclonic-Astatic Epilepsy	Thick lower lip vermilion, Anteverted nares, Thick nasal alae, Wide mouth, Syndactyly, Broad phil...	ORPHA:1942
Cleft Lip/Palate	Orofacial cleft, Abnormal number of permanent teeth, Oral-pharyngeal dysphagia, Palate fistula, B...	ORPHA:199306
Trichohepatoenteric Syndrome 1	Large placenta, Hypospadias, Wide nose, Anteverted nares, Microtia, Low-set ears, Narrow mouth, D...	OMIM:222470
Stickler Syndrome, Type I	Abnormal femoral epiphysis morphology, Anteverted nares, Pectus excavatum, Arachnodactyly, Microg...	OMIM:108300
Activated Pi3K-Delta Syndrome	Intestinal lymphoid nodular hyperplasia, Abnormal intestine morphology, Splenomegaly, Hepatomegaly	ORPHA:397596
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome	Protein-losing enteropathy, Pancreatic lymphangiectasis, High palate, Postaxial hand polydactyly,...	ORPHA:1655
Methylmalonic Aciduria And Homocystinuria, Cblf Type	Glossitis, Stomatitis, Microtia, High palate, Low-set ears, Tracheoesophageal fistula, Thin upper...	OMIM:277380
Visceral Myopathy 1	Thinning of outer muscular layer of small bowel, Aganglionic megacolon, Pancreatitis, Intestinal ...	OMIM:155310
Neurodevelopmental Disorder With Language Delay And Behavioral Abnormalities, With Or Without Seizures	Short nose, Gastroesophageal reflux, Bulbous nose, Wide nasal bridge, Thin upper lip vermilion	OMIM:620292
1Q21.1 Microdeletion Syndrome	Long philtrum, Clinodactyly of the 5th finger, Sensorineural hearing impairment, Scoliosis, High ...	ORPHA:250989
Lethal Intrauterine Growth Restriction-Cortical Malformation-Congenital Contractures Syndrome	Camptodactyly of finger, Micrognathia, Abnormal pleura morphology, Adducted thumb, Aplasia/Hypopl...	ORPHA:2570
Craniorachischisis	Sirenomelia, Anal atresia	ORPHA:63260
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome	Pectus excavatum, Abnormal heart morphology, Nephrocalcinosis, Long philtrum, Exaggerated cupid's...	ORPHA:369837
Distal 22Q11.2 Microduplication Syndrome	Unilateral renal agenesis, High palate, Anal atresia, Cryptorchidism, Camptodactyly of toe, Campt...	ORPHA:261337
Costello Syndrome	Limited elbow movement, Deep plantar creases, Pectus carinatum, Deep palmar crease, Anteverted na...	OMIM:218040
Dietary Iron Overload Disease	Hepatomegaly, Abnormal pancreas morphology, Hepatocellular carcinoma, Hepatic periportal necrosis...	ORPHA:139507
Tracheal Agenesis	Aplasia/Hypoplasia of the lungs, Abnormal cardiac septum morphology	ORPHA:3346
Fgfr2-Related Bent Bone Dysplasia	Osteopenia, Clitoral hypertrophy, Metopic depression, Bell-shaped thorax, Short clavicles, Abnorm...	ORPHA:313855
Cerebellar Dysfunction With Variable Cognitive And Behavioral Abnormalities	2-4 toe cutaneous syndactyly, 2-3 toe cutaneous syndactyly, Long philtrum, Thin vermilion border,...	OMIM:614756
Cholesteryl Ester Storage Disease	Steatorrhea, Cirrhosis, Hepatomegaly, Periportal fibrosis, Esophageal varix, Portal hypertension,...	OMIM:278000
Popliteal Pterygium Syndrome	Cleft upper lip, Cutaneous finger syndactyly, Bifid uvula, Cleft palate, Fibrous syngnathia, Lowe...	OMIM:119500
Patent Ductus Arteriosus And Bicuspid Aortic Valve With Hand Anomalies	Short finger, Clinodactyly of the 5th finger, Short toe, Brachydactyly, Short 5th metacarpal	OMIM:604381
Autosomal Recessive Kenny-Caffey Syndrome	Thin clavicles, Calvarial osteosclerosis, Delayed cranial suture closure, Thin ribs, Decreased sk...	ORPHA:93324
Cebalid Syndrome	Short nose, Anteverted nares, Abnormal pinna morphology, High palate, Low-set ears, Depressed nas...	OMIM:618774
Weill-Marchesani Syndrome 2	Flexion contracture of toe, Short metacarpal, Broad metatarsal, Joint stiffness, Delayed skeletal...	OMIM:608328
Oculopharyngeal Myopathy With Leukoencephalopathy 1	Respiratory failure	OMIM:618637
Jung Syndrome	Abnormal form of the vertebral bodies, Recurrent respiratory infections, Wide nasal bridge, Depre...	ORPHA:2321
Microlissencephaly-Micromelia Syndrome	Bilateral single transverse palmar creases, Short nose, Abnormal circulating calcium-phosphate re...	ORPHA:50810
Macrothrombocytopenia-Lymphedema-Developmental Delay-Facial Dysmorphism-Camptodactyly Syndrome	Proximal placement of thumb, Abnormality of the endocrine system, Abnormal heart morphology, Wide...	ORPHA:487796
Osteogenesis Imperfecta, Type Xvii	Kyphoscoliosis, Reduced bone mineral density, Platyspondyly, Thin metacarpal cortices, Vertebral ...	OMIM:616507
Cole-Carpenter Syndrome 2	Osteopenia, Lambdoidal craniosynostosis, Platyspondyly, Narrow iliac wing, Thin ribs, High palate...	OMIM:616294
Silver-Russell Syndrome 3	Retrognathia, Penoscrotal hypospadias, Clinodactyly of the 5th finger, Unilateral cryptorchidism,...	OMIM:616489
Mitochondrial Complex Iii Deficiency, Nuclear Type 11	Microtia, Recurrent upper respiratory tract infections	OMIM:620137
Surfactant Metabolism Dysfunction, Pulmonary, 2	Respiratory insufficiency, Clubbing, Intraalveolar phospholipid accumulation, Nonspecific interst...	OMIM:610913
Aspergillosis	Hypersensitivity pneumonitis, Abnormal long bone morphology, Abnormality of the vertebral column,...	ORPHA:1163
Lissencephaly Type 3-Metacarpal Bone Dysplasia Syndrome	Epiphyseal stippling, Short metacarpal, Pulmonary hypoplasia, Short distal phalanx of finger, Tal...	ORPHA:86822
Arthrogryposis And Ectodermal Dysplasia	Orofacial cleft, Abnormal dental enamel morphology, Oligodontia, Camptodactyly, Cleft upper lip, ...	OMIM:601701
Mpi-Cdg	Decreased liver function, Gastrointestinal hemorrhage, Protein-losing enteropathy, Hepatomegaly, ...	ORPHA:79319
Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 2	Anemia, Short middle phalanx of the 4th finger, Limited pronation/supination of forearm, Hydrocel...	OMIM:616738
Fanconi Anemia, Complementation Group P	Hypoplasia of the radius, Hearing impairment, Micrognathia, Absent thumb, Short thumb, Cryptorchi...	OMIM:613951
Cowden Syndrome 1	Scoliosis, High palate, Furrowed tongue, Kyphosis, Hamartomatous polyposis, Hearing impairment, V...	OMIM:158350
Coach Syndrome 1	Cirrhosis, Nephronophthisis, Elevated circulating hepatic transaminase concentration, Unilateral ...	OMIM:216360
Enlarged Parietal Foramina	Venous malformation, Short clavicles, Broad thumb, Cleft palate, Abnormal cerebral vein morpholog...	ORPHA:60015
Renpenning Syndrome 1	Pectus excavatum, Hypospadias, Short philtrum, Phimosis, Camptodactyly, Cleft palate, Malar flatt...	OMIM:309500
Aase-Smith Syndrome I	Slender finger, Cleft palate, Open mouth, Ventricular septal defect, Talipes equinovarus	OMIM:147800
Microtia, Hearing Impairment, And Cleft Palate	Mixed hearing impairment, Stenosis of the external auditory canal, Microtia, Cleft palate, Increa...	OMIM:612290
Corpus Callosum Agenesis-Intellectual Disability-Coloboma-Micrognathia Syndrome	Retrognathia, High palate, Choanal atresia, Pectus excavatum, Cleft palate, Prominent nasal bridg...	ORPHA:52055
Hemochromatosis, Type 1	Cirrhosis, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Azoospermia, He...	OMIM:235200
Congenital Disorder Of Glycosylation, Type Iil	Cirrhosis, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Unilateral rena...	OMIM:614576
Alkaptonuria	Limitation of knee mobility, Intervertebral disk degeneration, Arthritis, Arthropathy, Kyphosis, ...	OMIM:203500
Gapo Syndrome	Short nose, High, narrow palate, Protruding ear, Long philtrum, Bell-shaped thorax, Thick lower l...	OMIM:230740
Peroxisome Biogenesis Disorder 7A (Zellweger)	Jaundice, Hepatomegaly, Polymicrogyria, High palate, Talipes equinovarus	OMIM:614872
Cleft Palate, Deafness, And Oligodontia	Cleft soft palate, Sandal gap, Short hallux, Bilateral conductive hearing impairment, Agenesis of...	OMIM:216300
Cholestasis, Progressive Familial Intrahepatic, 1	Cirrhosis, Jaundice, Hepatomegaly, Cholelithiasis, Intrahepatic cholestasis with episodic jaundic...	OMIM:211600
Epilepsy, Focal, With Speech Disorder And With Or Without Impaired Intellectual Development	Short nose	OMIM:245570
Microtia-Eye Coloboma-Imperforation Of The Nasolacrimal Duct Syndrome	Microtia	ORPHA:139450
Bladder Exstrophy And Epispadias Complex	Epispadias, Bifid clitoris, Hydroureter, Unilateral renal agenesis, Bladder exstrophy, Anteriorly...	OMIM:600057
Menke-Hennekam Syndrome 2	Duodenal ulcer, Sandal gap, Narrow nasal bridge, Micrognathia, Cutaneous syndactyly of toes, Recu...	OMIM:618333
Hypo- And Hypermelanotic Cutaneous Macules-Retarded Growth-Intellectual Disability Syndrome	Abnormal rib morphology	ORPHA:2435
Holoprosencephaly 4	Median cleft palate, Depressed nasal tip, Absent nasal septal cartilage, Median cleft upper lip, ...	OMIM:142946
Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart	Broad alveolar ridges, Syndactyly, Hypospadias, Anteverted nares, Patent foramen ovale, Furrowed ...	OMIM:616975
Pontocerebellar Hypoplasia, Type 2E	Short nose, Wide nose, Scoliosis, Osteoporosis, Micrognathia, Flexion contracture, Large earlobe	OMIM:615851
Astley-Kendall Dysplasia	Micromelia, Epiphyseal stippling	ORPHA:85175
Wolman Disease	Steatorrhea, Hepatomegaly, Esophageal varix, Ascites, Splenomegaly, Hepatic failure	ORPHA:75233
Intellectual Developmental Disorder, X-Linked, Syndromic, With Pigmentary Mosaicism And Coarse Facies	Hyperlordosis, Everted lower lip vermilion, Umbilical hernia, Broad ribs, Hip dislocation, Cleft ...	OMIM:301066
Sclerosing Cholangitis, Neonatal	Cirrhosis, Jaundice, Portal fibrosis, Hepatomegaly, Sclerosing cholangitis, Ductal bile plugs, Ve...	OMIM:617394
Spondylometaphyseal Dysplasia, Sedaghatian Type	Narrow chest, Respiratory insufficiency, Short metacarpal, Rhizomelic arm shortening, Abnormal ri...	ORPHA:93317
Hydrocephaly-Low Insertion Umbilicus Syndrome	Long nose, Wide nose, Tetralogy of Fallot, Patent ductus arteriosus, Anomalous pulmonary venous r...	ORPHA:2184
Pyruvate Dehydrogenase E1-Alpha Deficiency	Pes cavus, Talipes, Single transverse palmar crease, Recurrent aspiration pneumonia, Limb undergr...	ORPHA:79243
Wiedemann-Steiner Syndrome	Abnormality of the hand, Short nose, Decreased response to growth hormone stimulation test, Rhizo...	ORPHA:319182
Acrofrontofacionasal Dysostosis 2	Hypospadias, Wide nose, High palate, Broad thumb, Hand polydactyly, Broad hallux, Syndactyly	OMIM:239710
Nijmegen Breakage Syndrome	Autoimmune hemolytic anemia, Retrognathia, Acute leukemia, Anal stenosis, Anorectal anomaly, Non-...	ORPHA:647
3Q29 Microduplication Syndrome	Sandal gap, Ectopic anus, High palate, Abnormality of the dentition, Camptodactyly of toe, Cleft ...	ORPHA:251038
Congenital Heart Defects, Multiple Types, 2	Myxomatous mitral valve degeneration, Aortic aneurysm, Aortic valve stenosis, Tetralogy of Fallot...	OMIM:614980
Faciocardiorenal Syndrome	Tricuspid valve prolapse, Narrow mouth, Cleft palate, Smooth philtrum, Hypodontia, Wide nasal bri...	ORPHA:1973
Cutis Laxa, Autosomal Recessive, Type Iic	Dental crowding, Nephrocalcinosis, Mitral valve prolapse, Long philtrum, Overlapping toe, Antever...	OMIM:617402
Pseudo-Torch Syndrome 1	Anteverted nares, Patent foramen ovale, High palate, Thrombocytopenia, Splenomegaly, Microretrogn...	OMIM:251290
Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion	Retrognathia, 2-4 toe cutaneous syndactyly, Abnormality of the endocrine system, Pectus excavatum...	ORPHA:268261
Congenital Bile Acid Synthesis Defect Type 2	Steatorrhea, Jaundice, Elevated circulating hepatic transaminase concentration, Giant cell hepati...	ORPHA:79303
Endove Syndrome, Limb-Brain Type	Aplasia of the 3rd finger, Talar aplasia, Triangular tibia, Umbilical hernia, Joint hypermobility...	OMIM:619218
Laurin-Sandrow Syndrome	Triphalangeal thumb, Absent tibia, Fibular duplication, Hand polydactyly, Patellar aplasia, Synda...	OMIM:135750
Ventricular Extrasystoles With Syncope, Perodactyly, And Robin Sequence	Posteriorly placed tongue, Aplasia/Hypoplasia of the distal phalanges of the toes, Submucous clef...	OMIM:192445
Seckel Syndrome 2	Clinodactyly of the 5th finger, Hypospadias, Microdontia, Micrognathia, Microglossia, Prominent nose	OMIM:606744
Blepharophimosis-Intellectual Disability Syndrome, Sbbys Type	Bilateral single transverse palmar creases, Retrognathia, Long nose, Neoplasm of the tongue, Thyr...	ORPHA:3047
Gomez-Lopez-Hernandez Syndrome	Thin vermilion border, Short nose, Decreased response to growth hormone stimulation test, Antever...	OMIM:601853
Hermansky-Pudlak Syndrome 6	Urinary incontinence, Endometriosis, Neurogenic bladder, Perineal fistula, Anal atresia	OMIM:614075
Pancreatic Hypoplasia-Diabetes-Congenital Heart Disease Syndrome	Ureteral duplication, Pancreatic aplasia, Pulmonic stenosis, Intestinal malrotation, Hypoplasia o...	ORPHA:2255
Pontocerebellar Hypoplasia Type 1	Respiratory failure, Tongue fasciculations, Arthrogryposis multiplex congenita	ORPHA:2254
Williams Syndrome	Abnormal carotid artery morphology, Hypoplasia of penis, Everted lower lip vermilion, Microdontia...	ORPHA:904
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome	Narrow greater sciatic notch, Rhizomelia, Flared metaphysis, Scoliosis, Short long bone, Metaphys...	ORPHA:85167
Multiple Acyl-Coa Dehydrogenase Deficiency	Abnormal pinna morphology, Hyperlordosis, Scapular winging, Cardiorespiratory arrest, Respiratory...	ORPHA:26791
Multiple Acyl-Coa Dehydrogenase Deficiency	Glutaric aciduria, Generalized aminoaciduria, Renal cortical cysts, Polycystic kidney dysplasia, ...	OMIM:231680
Intellectual Developmental Disorder, X-Linked, Syndromic, Snyder-Robinson Type	High, narrow palate, Thick lower lip vermilion, Short philtrum, Talipes equinovarus, Dental crowd...	OMIM:309583
Cholestasis-Lymphedema Syndrome	Gastrointestinal hemorrhage, Jaundice, Cirrhosis, Hepatomegaly, Portal hypertension, Abnormality ...	ORPHA:1414
Fryns-Smeets-Thiry Syndrome	Thick lower lip vermilion, Short philtrum, Narrow nasal bridge, Everted lower lip vermilion, Arac...	ORPHA:2058
Intellectual Developmental Disorder, Autosomal Dominant 29	Narrow palate, Pes cavus, Sandal gap, Wide nose, Dental crowding, Hyperlordosis, High palate, Low...	OMIM:616078
Intellectual Developmental Disorder With Behavioral Abnormalities And Craniofacial Dysmorphism With Or Without Seizures	Clinodactyly of the 5th finger, Syndactyly, Tapered finger	OMIM:618725
Laurence-Moon Syndrome	Bilateral single transverse palmar creases, Hypoplasia of penis, Finger syndactyly, Hand polydact...	ORPHA:2377
Brown-Vialetto-Van Laere Syndrome 1	Respiratory failure requiring assisted ventilation, Death in childhood, Respiratory insufficiency...	OMIM:211530
Ring Chromosome 22 Syndrome	Wide nasal base, Azoospermia, 2-3 toe syndactyly, Pleural effusion, Protruding tongue, Macrotia, ...	ORPHA:1446
Auriculocondylar Syndrome 3	Retrognathia, Stenosis of the external auditory canal, Bilateral conductive hearing impairment, G...	OMIM:615706
Fibular Aplasia, Tibial Campomelia, And Oligosyndactyly Syndrome	Fibular aplasia, Abnormality of the hand, Tibial bowing, Finger aplasia, Foot oligodactyly, Synda...	OMIM:246570
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders	Enlarged kidney, Bone marrow hypocellularity, Abnormal heart morphology, Leukopenia, Deep palmar ...	ORPHA:505248
Ectodermal Dysplasia-Syndactyly Syndrome 1	2-3 toe cutaneous syndactyly, Widely spaced teeth, Conical tooth, 4-5 toe syndactyly, Enamel hypo...	OMIM:613573
Blepharocheilodontic Syndrome 2	Tooth agenesis, Cleft lip, Cutaneous syndactyly, Conical tooth	OMIM:617681
Congenital Total Pulmonary Venous Return Anomaly	Infracardiac total anomalous pulmonary venous connection, Atrial situs ambiguous, Transposition o...	ORPHA:99125
Neurodevelopmental Disorder With Hypotonia, Craniofacial Abnormalities, And Seizures	Broad jaw, Exaggerated cupid's bow, High palate, Bulbous nose, Aortic valve stenosis, Short palm,...	OMIM:614501
Johanson-Blizzard Syndrome	Clitoral hypertrophy, Ascites, Urethrovaginal fistula, Splenomegaly, Septate vagina, Intrahepatic...	OMIM:243800
Oculocerebrorenal Syndrome Of Lowe	Chronic otitis media, Cheilitis, Dental crowding, Everted lower lip vermilion, Kyphosis, Death in...	ORPHA:534
Brachymorphism-Onychodysplasia-Dysphalangism Syndrome	Long philtrum, Clinodactyly of the 5th finger, Short distal phalanx of toe, Delayed skeletal matu...	ORPHA:1292
Cardiac Valvular Dysplasia 2	Ascending tubular aorta aneurysm, Dysplastic aortic valve, Pulmonic stenosis, Bicuspid aortic val...	OMIM:620067
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 3	Retrognathia, Hyperlordosis, Prominent fingertip pads, Microdontia, Eclabion, Wide mouth, Joint h...	OMIM:619950
Kapur-Toriello Syndrome	Orofacial cleft, Hypoplasia of penis, Intestinal malrotation, Tetralogy of Fallot, Patent ductus ...	ORPHA:2328
Thanatophoric Dysplasia, Glasgow Variant	Hepatosplenomegaly, Micromelia	OMIM:273680
Polymerase Proofreading-Related Adenomatous Polyposis	Neoplasm of the rectum, Colorectal polyposis, Adenocarcinoma of the colon, Adenomatous colonic po...	ORPHA:447877
Developmental And Epileptic Encephalopathy 111	Single transverse palmar crease, Nephrolithiasis, Cryptorchidism, Pulmonary artery stenosis, Recu...	OMIM:620504
Larsen-Like Syndrome, Lethal Type	Pulmonary hypoplasia	OMIM:245650
Cleft Lip/Palate-Deafness-Sacral Lipoma Syndrome	Non-midline cleft of the upper lip, Bilateral cleft palate, Depressed nasal ridge, Tooth agenesis...	ORPHA:2003
Mandibuloacral Dysplasia	Abnormal tongue morphology, Short clavicles, Delayed cranial suture closure, Osteolytic defects o...	ORPHA:2457
Hemihyperplasia-Multiple Lipomatosis Syndrome	Macrodactyly, Scoliosis, Microtia, Foot polydactyly, 2-4 toe syndactyly, Ovarian serous cystadeno...	ORPHA:276280
Limb Body Wall Complex	Aplasia/hypoplasia involving bones of the upper limbs, Anencephaly, Abnormal intestine morphology...	ORPHA:2369
Rajab Interstitial Lung Disease With Brain Calcifications 1	Rickets, Osteopenia, Abnormal pulmonary interstitial morphology, Reduced bone mineral density, Em...	OMIM:613658
Stüve-Wiedemann Syndrome	Absent patellar reflexes, Flexion contracture of finger, Sacral dimple, Scoliosis, Elbow flexion ...	ORPHA:3206
Bile Acid Synthesis Defect, Congenital, 4	Intrahepatic cholestasis, Elevated circulating hepatic transaminase concentration, Hepatomegaly, ...	OMIM:214950
Right Pulmonary Artery, Anomalous Origin Of, Familial	Patent foramen ovale, Anomalous origin of right pulmonary artery from ascending aorta, Coarctatio...	OMIM:610338
Juvenile Polyposis/Hereditary Hemorrhagic Telangiectasia Syndrome	Hepatic arteriovenous malformation, Gastrointestinal carcinoma, Anemia, Aortic aneurysm, Stroke, ...	OMIM:175050
Semilobar Holoprosencephaly	Decreased response to growth hormone stimulation test, Solitary median maxillary central incisor,...	ORPHA:220386
Alobar Holoprosencephaly	Decreased response to growth hormone stimulation test, Solitary median maxillary central incisor,...	ORPHA:93925
Midline Interhemispheric Variant Of Holoprosencephaly	Decreased response to growth hormone stimulation test, Solitary median maxillary central incisor,...	ORPHA:93926
Lobar Holoprosencephaly	Decreased response to growth hormone stimulation test, Solitary median maxillary central incisor,...	ORPHA:93924
Mucopolysaccharidosis Type 3	Chronic otitis media, Mixed hearing impairment, Reduced bone mineral density, Abnormal form of th...	ORPHA:581
Osteopetrosis, Autosomal Recessive 5	Stillbirth, Osteopetrosis, Hip subluxation, Cranial hyperostosis, Flared metaphysis, Increased bo...	OMIM:259720
Kabuki Syndrome 1	Anal stenosis, Anoperineal fistula, Prominent fingertip pads, High palate, Anal atresia, Prematur...	OMIM:147920
Deafness With Labyrinthine Aplasia, Microtia, And Microdontia	Supernumerary tooth, Widely spaced teeth, Conical tooth, Hypodontia, Sensorineural hearing impair...	ORPHA:90024
Okur-Chung Neurodevelopmental Syndrome	Clinodactyly of the 5th finger, Anteverted nares, Scoliosis, Single transverse palmar crease, Hig...	OMIM:617062
Congenital Anomalies Of Kidney And Urinary Tract Syndrome With Or Without Hearing Loss, Abnormal Ears, Or Developmental Delay	Hypoplastic helices, Thickened helices, Respiratory insufficiency, Anteverted nares, Abnormal pin...	OMIM:617641
Congenitally Corrected Transposition Of The Great Arteries	Mesocardia, Pulmonic stenosis, Discordant atrioventricular connection, Abnormal heart morphology,...	ORPHA:216694
Goldberg-Shprintzen Megacolon Syndrome	Aganglionic megacolon, Hypospadias, Finger syndactyly, Cleft palate, Wide nasal bridge	ORPHA:66629
Bazex-Dupré-Christol Syndrome	Abnormal clavicle morphology, Macrotia, Abnormal finger morphology, Hypoplasia of the ear cartilage	ORPHA:113
Microcephaly-Facial Dysmorphism-Ocular Anomalies-Multiple Congenital Anomalies Syndrome	Short philtrum, Abnormality of the palmar creases, Mandibular prognathia, Thyroid hypoplasia, Nep...	ORPHA:521445
Proteus-Like Syndrome	Bronchogenic cyst, Venous insufficiency, Anteverted nares, Mandibular prognathia, Open bite, Sple...	ORPHA:2969
Myopathy, Myofibrillar, 9, With Early Respiratory Failure	Calf muscle hypertrophy, Scapular winging, Achilles tendon contracture, Respiratory failure, Shou...	OMIM:603689
Deafness, Congenital, With Inner Ear Agenesis, Microtia, And Microdontia	Widely spaced teeth, Conical tooth, Peg-shaped maxillary lateral incisors, Anteverted ears, Micro...	OMIM:610706
Axenfeld-Rieger Syndrome	Anal stenosis, Hypospadias	ORPHA:782
Mandibuloacral Dysplasia With Type B Lipodystrophy	Delayed puberty, Short nose, Osteolytic defects of the distal phalanges of the hand, Narrow mouth...	ORPHA:90154
Homocystinuria-Megaloblastic Anemia, Cblg Complementation Type	Respiratory failure, Pes planus, Slender finger	OMIM:250940
Noonan Syndrome 3	Short nose, Tricuspid valve prolapse, Juvenile myelomonocytic leukemia, Anteverted nares, Patent ...	OMIM:609942
Williams-Beuren Syndrome	Pectus excavatum, Microdontia, Pulmonic stenosis, Early onset of sexual maturation, Nephrocalcino...	OMIM:194050
Intellectual Developmental Disorder, Autosomal Dominant 4	Short toe, Syndactyly	OMIM:612581
Bile Acid Synthesis Defect, Congenital, 2	Steatorrhea, Jaundice, Intrahepatic cholestasis, Elevated circulating hepatic transaminase concen...	OMIM:235555
Omenn Syndrome	Anemia, Lymphadenopathy, B lymphocytopenia, Hypoplasia of the thymus, Severe B lymphocytopenia, T...	OMIM:603554
Pontocerebellar Hypoplasia, Type 1B	Abnormal foot morphology, Respiratory insufficiency, Tongue fasciculations, Flexion contracture, ...	OMIM:614678
Pectus Excavatum-Macrocephaly-Dysplastic Nails Syndrome	Short nose, Pectus excavatum, Malar flattening, Hypoplasia of the zygomatic bone, Depressed nasal...	ORPHA:2835
Hydrolethalus Syndrome 2	Postaxial hand polydactyly, Micrognathia, Cleft palate, Preaxial foot polydactyly, Postaxial foot...	OMIM:614120
Craniosynostosis, Philadelphia Type	Finger syndactyly	ORPHA:1527
Warburg-Cinotti Syndrome	Pneumothorax, Ankle flexion contracture, Osteolytic defects of the phalanges of the hand, Cholest...	OMIM:618175
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Hypomyelination	Short umbilical cord, Short femur, Short humerus, Tapered finger	OMIM:618367
Familial Visceral Myopathy	Aganglionic megacolon, Hydroureter, Anteverted nares, Vesicoureteral reflux, Arachnodactyly, Micr...	ORPHA:2604
Alpha-Mannosidosis, Infantile Form	Mixed hearing impairment, Sensorineural hearing impairment, Pectus carinatum, Pectus excavatum, J...	ORPHA:309282
Spinocerebellar Ataxia 42, Early-Onset, Severe, With Neurodevelopmental Deficits	Short nose, Mandibular prognathia, Clinodactyly, Syndactyly	OMIM:618087
Intellectual Developmental Disorder With Microcephaly And Pontine And Cerebellar Hypoplasia	Short nose, Sensorineural hearing impairment, Scoliosis, High palate, Hearing impairment, Macroti...	OMIM:300749
Arnold-Chiari Malformation Type I	Stiff neck, Fused cervical vertebrae, Cervical C2/C3 vertebral fusion, Abnormality of the muscula...	ORPHA:268882
Alzahrani-Kuwahara Syndrome	Hypospadias, Hypodontia, Narrow philtrum, Patent foramen ovale, Coronary sinus enlargement, Persi...	OMIM:619268
Bardet-Biedl Syndrome 1	High, narrow palate, Aganglionic megacolon, Radial deviation of finger, Dental crowding, High pal...	OMIM:209900
Caroli Disease	Cirrhosis, Jaundice, Intrahepatic cholestasis, Cholangitis, Cholelithiasis, Hepatomegaly, Liver a...	ORPHA:53035
Brachydactyly, Coloboma, And Anterior Segment Dysgenesis	Clinodactyly, Syndactyly, Brachydactyly	OMIM:610023
Chilton-Okur-Chung Neurodevelopmental Syndrome	Asymmetry of the thorax, Sensorineural hearing impairment, Pectus excavatum, Epistaxis, Wide mout...	OMIM:619841
Midface Hypoplasia, Hearing Impairment, Elliptocytosis, And Nephrocalcinosis	Cleft hard palate, Broad distal phalanx of finger, Clinodactyly of the 5th finger, Anemia, Delaye...	OMIM:300990
Autosomal Recessive Cutis Laxa Type 1	Pneumothorax, Multiple bladder diverticula, Vascular dilatation, Emphysema, Vesicoureteral reflux...	ORPHA:90349
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7	Retrognathia, Death in childhood, Encephalocele, Microtia, Low-set ears, Death in infancy, Adduct...	OMIM:614643
Congenital Generalized Lipodystrophy	Clitoral hypertrophy, Cirrhosis, Hepatomegaly, Precocious puberty in females, Oligomenorrhea, Lar...	ORPHA:528
Interstitial Pneumonitis, Desquamative, Familial	Respiratory failure, Desquamative interstitial pneumonitis, Type II pneumocyte hypertrophy, Recur...	OMIM:263000
Floating-Harbor Syndrome	Long nose, Mesocardia, Dislocated radial head, Short metacarpal, Microdontia, Nephrocalcinosis, W...	ORPHA:2044
Combined Oxidative Phosphorylation Deficiency 52	Respiratory failure, Death in infancy	OMIM:619386
Frontonasal Dysplasia-Severe Microphthalmia-Severe Facial Clefting Syndrome	Tessier cleft, Pectoral muscle hypoplasia/aplasia, Hypoplasia of the frontal bone, Hypoplasia of ...	ORPHA:306542
Trichorhinophalangeal Syndrome, Type Ii	Cone-shaped epiphyses of the phalanges of the hand, Short metacarpal, Pectus excavatum, 2-4 toe s...	OMIM:150230
15Q11.2 Microdeletion Syndrome	Abnormal palate morphology, Total anomalous pulmonary venous return, Coarctation of aorta, Abnorm...	ORPHA:261183
Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy	Intestinal obstruction, Intestinal lymphangiectasia, Hepatomegaly, Clubbing of fingers, Clubbing,...	OMIM:226300
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome	Arteriovenous malformation, Finger syndactyly, Foot polydactyly, Hand polydactyly, Wide mouth, To...	ORPHA:60040
Neural Tube Defects, Susceptibility To	Sacral dimple, Anencephaly, Spina bifida occulta, Asymmetry of spinal facet joints, Myelomeningoc...	OMIM:182940
Peripheral Demyelinating Neuropathy-Central Dysmyelinating Leukodystrophy-Waardenburg Syndrome-Hirschsprung Disease	Aganglionic megacolon, Hepatomegaly, Microcolon, Splenomegaly, Hypogonadism, Ileus	ORPHA:163746
Oculoskeletodental Syndrome	Protein-losing enteropathy, Hepatomegaly, Hypercalciuria, Elbow flexion contracture, Mucopolysacc...	OMIM:618440
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 1	Respiratory failure, Camptodactyly of finger, Ventilator dependence with inability to wean, Talip...	OMIM:604320
X-Linked Intellectual Disability, Armfield Type	Limited elbow extension, Short philtrum, Galactosuria, Mandibular prognathia, Organic aciduria, S...	ORPHA:85276
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome	Abnormal vertebral morphology, Hypospadias, 11 pairs of ribs, Hypoplasia of penis, Esophageal atr...	ORPHA:77298
Fatco Syndrome	Abnormal fibula morphology, Tarsal synostosis, Abnormal tibia morphology, Finger syndactyly, Spli...	ORPHA:2492
Facioscapulohumeral Muscular Dystrophy 1	Sensorineural hearing impairment, Calf muscle hypertrophy, Scapular winging, Shoulder girdle musc...	OMIM:158900
Kenny-Caffey Syndrome, Type 1	Long clavicles, Thin clavicles, Calvarial osteosclerosis, Slender long bone, Thin ribs, Decreased...	OMIM:244460
Hereditary Mucoepithelial Dysplasia	Gingival overgrowth, Furrowed tongue, Tracheoesophageal fistula, Pulmonary fibrosis, Recurrent re...	ORPHA:1839
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency	Widened distal phalanges, Abnormal subclavian artery morphology, Broad distal phalanx of finger, ...	ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations	Widened distal phalanges, Abnormal subclavian artery morphology, Broad distal phalanx of finger, ...	ORPHA:353277
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency	Hepatocellular adenoma, Cirrhosis, Elevated circulating hepatic transaminase concentration, Porta...	ORPHA:264580
Trichohepatoenteric Syndrome 2	Cirrhosis, Hepatomegaly, Colitis, Chronic hepatitis, Villous atrophy	OMIM:614602
Infant Acute Respiratory Distress Syndrome	Pulmonary edema, Atelectasis, Respiratory tract infection, Pneumonia, Respiratory failure, Abnorm...	ORPHA:70587
Acute Interstitial Pneumonia	Atelectasis, Peribronchovascular interstitial thickening, Pleural effusion, Bronchiectasis, Inter...	ORPHA:79126
Encephalomyopathy, Mitochondrial, Due To Voltage-Dependent Anion Channel Deficiency	Neutropenia, Anemia, High palate, Bone marrow hypocellularity, Thrombocytopenia, Syndactyly, Amin...	OMIM:614520
Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency	Celiac disease, Hepatomegaly, Splenomegaly, Glomerulonephritis	OMIM:619375
Stromme Syndrome	Short columella, Preaxial polydactyly, Accessory spleen, Intestinal malrotation, Micrognathia, Cl...	OMIM:243605
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 2	Ileal atresia, Thoracic aortic aneurysm, Anuria, Microcolon, Pulmonary hypoplasia, Patent ductus ...	OMIM:619351
Hepatic Veno-Occlusive Disease	Respiratory failure	ORPHA:890
Pulmonary Alveolar Microlithiasis	Pneumothorax, Pleural thickening, Subpleural interstitial thickening, Clubbing of fingers, Respir...	ORPHA:60025
Craniofrontonasal Dysplasia-Poland Anomaly Syndrome	Aplasia/Hypoplasia involving bones of the skull, Wide nose, Short lingual frenulum, High palate, ...	ORPHA:1521
Spondyloepimetaphyseal Dysplasia, Krakow Type	Metaphyseal irregularity, Delayed pubic bone ossification, Rhizomelia, Irregular epiphyses, Clino...	OMIM:618162
Bloom Syndrome	Esophageal neoplasm, Retrognathia, Cheilitis, Azoospermia, Stomach cancer, Bronchitis, Oligozoosp...	ORPHA:125
Epidermolysis Bullosa, Lethal Acantholytic	Clinodactyly of the 5th finger, Sandal gap, Tapered distal phalanges of finger, Natal tooth, Synd...	OMIM:609638
Short Stature, Brachydactyly, Impaired Intellectual Development, And Seizures	Retrognathia, Dental crowding, Short metacarpal, Short distal phalanx of finger, Long philtrum, A...	OMIM:617157
Mowat-Wilson Syndrome	Pectus excavatum, Pulmonic stenosis, Abnormal heart morphology, Abnormal enteric ganglion morphol...	OMIM:235730
Frontofacionasal Dysplasia	Orofacial cleft, Midline defect of the nose, Short nose, Hypoplasia of the frontal bone, Cleft up...	OMIM:229400
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of	Exercise-induced myoglobinuria, Dicarboxylic aciduria, Hepatomegaly, Gastroesophageal reflux, Per...	OMIM:201475
Periventricular Nodular Heterotopia 9	Pes cavus, Everted upper lip vermilion, Clinodactyly of the 5th finger, Single transverse palmar ...	OMIM:618918
Farber Disease	Short finger, Abnormality of the hand, Abnormality of the wrist, Atelectasis, Abnormal foot morph...	ORPHA:333
Biliary Atresia, Extrahepatic	Cirrhosis, Jaundice, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Porta...	OMIM:210500
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 6	Respiratory failure, Proximal muscle weakness in upper limbs, Ankle clonus	OMIM:613954
Neurodevelopmental Disorder With Absent Language And Variable Seizures	Genu recurvatum, Joint hypermobility, Pes planus, Short 3rd toe, Tapered finger, Short 4th toe	OMIM:618707
Mowat-Wilson Syndrome Due To Monosomy 2Q22	Urinary incontinence, Dental crowding, Pectus excavatum, Pulmonic stenosis, Aortic valve stenosis...	ORPHA:261537
Intellectual Developmental Disorder, Autosomal Dominant 71, With Behavioral Abnormalities	Sandal gap, Bifid uvula, Umbilical hernia, Long philtrum, Small scrotum, Joint hypermobility, Rec...	OMIM:620330
Autosomal Recessive Cutis Laxa Type 2, Classic Type	Short nose, Anteverted nares, Prominent veins on trunk, High palate, Congenital hip dislocation, ...	ORPHA:357074
Lethal Congenital Contracture Syndrome 2	Respiratory failure, Micrognathia, Arthrogryposis multiplex congenita	OMIM:607598
Camptodactyly-Joint Contractures-Facial Skeletal Defects Syndrome	Narrow palate, Abnormal hip bone morphology, Finger syndactyly, Narrow mouth, Synostosis of carpa...	ORPHA:1323
Orofaciodigital Syndrome Xiv	Occipital encephalocele, Short ribs, Aplasia of the epiglottis, Postaxial hand polydactyly, Cleft...	OMIM:615948
Short Stature, Optic Nerve Atrophy, And Pelger-Huet Anomaly	Thin vermilion border, Sandal gap, Single transverse palmar crease, Micromelia, Hyposegmentation ...	OMIM:614800
Arachnodactyly-Abnormal Ossification-Intellectual Disability Syndrome	Arachnodactyly, Micrognathia, Short nose	ORPHA:1129
Holoprosencephaly 2	Solitary median maxillary central incisor, Proboscis, Anterior pituitary agenesis, Diabetes insip...	OMIM:157170
Diamond-Blackfan Anemia 21	Protruding ear, Genu valgum, Cubitus valgus, Sandal gap, Clinodactyly of the thumb, Low-set ears,...	OMIM:620072
Cutis Laxa, Autosomal Recessive, Type Ia	Emphysema, Ascending tubular aorta aneurysm, Pectus excavatum, Arachnodactyly, Bladder diverticul...	OMIM:219100
Xylt1-Cdg	Long philtrum, Joint dislocation, Flared metaphysis, Short clavicles, Short long bone, Broad thum...	ORPHA:370930
Desmoplastic Small Round Cell Tumor	Hepatomegaly, Ovarian neoplasm, Neoplasm of the pancreas, Abnormal peritoneum morphology, Testicu...	ORPHA:83469
Nthl1-Related Attenuated Familial Adenomatous Polyposis	Pancreatic adenocarcinoma, Neoplasm of the rectum, Colon cancer, Ovarian cyst, Adenomatous coloni...	ORPHA:454840
Mosaic Variegated Aneuploidy Syndrome	Abnormal lung lobation, Intestinal polyposis, Clinodactyly of the 5th finger, Wide nose, Stomach ...	ORPHA:1052
Pulmonary Capillary Hemangiomatosis	Pulmonary edema, Pulmonary capillary hemangiomatosis, Mediastinal lymphadenopathy, Lymphadenopath...	ORPHA:199241
Currarino Syndrome	Aplasia/Hypoplasia of the sacrum, Hypospadias, Hypoplasia of penis, Abnormal intestine morphology...	ORPHA:1552
Weill-Marchesani Syndrome 1	Narrow palate, Broad phalanges of the hand, Tooth malposition, Scoliosis, Broad metacarpals, Broa...	OMIM:277600
Biliary, Renal, Neurologic, And Skeletal Syndrome	Inlet ventricular septal defect, Everted lower lip vermilion, Broad thumb, Dark urine, Syndactyly...	OMIM:619534
Noonan Syndrome With Multiple Lentigines	Abnormal endocardium morphology, Atrioventricular canal defect, Vascular dilatation, Hypospadias,...	ORPHA:500
Neurodevelopmental Disorder With Hypotonia, Language Delay, And Skeletal Defects With Or Without Seizures	Thin vermilion border, 2-3 toe cutaneous syndactyly, Anal stenosis, Gastroesophageal reflux, Narr...	OMIM:620029
Epidermolysis Bullosa, Junctional 6, With Pyloric Atresia	Microtia, Congenital pyloric atresia, Neonatal death, Esophageal stenosis, Oral mucosal blisters	OMIM:619817
Facial Dysmorphism-Anorexia-Cachexia-Eye And Skin Anomalies Syndrome	Midline defect of the nose, Short hard palate, Anteverted nares, Finger syndactyly, Pectus excava...	ORPHA:1969
Holoprosencephaly 12 With Or Without Pancreatic Agenesis	Hitchhiker thumb, Sensorineural hearing impairment, Microtia, High palate, Low-set ears, Conducti...	OMIM:618500
Gracile Bone Dysplasia	Slender long bone, Flared metaphysis, Thin ribs, Decreased skull ossification, Ankyloglossia, Dea...	OMIM:602361
Atrial Septal Defect, Ostium Primum Type	Left atrial enlargement, Recurrent respiratory infections, Clubbing of fingers, Right atrial enla...	ORPHA:99106
Fanconi Anemia, Complementation Group W	Hypoplasia of the radius, Abnormal radial ray morphology, Absent thumb, Duodenal atresia	OMIM:617784
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation	Aplasia of the thymus, Oral ulcer, Abnormally low T cell receptor excision circle level, B lympho...	OMIM:602450
Axenfeld-Rieger Syndrome, Type 2	Anal stenosis, Hypospadias, Cryptorchidism	OMIM:601499
White-Kernohan Syndrome	Retrognathia, Short nose, Hydroureter, Horseshoe kidney, Rectovaginal fistula, Gastroesophageal r...	OMIM:619426
Agnathia-Holoprosencephaly-Situs Inversus Syndrome	Low-set, posteriorly rotated ears, Hypoplasia of penis, Synotia, Narrow mouth, Mandibular aplasia...	ORPHA:990
Camurati-Engelmann Disease	Abnormal femur morphology, Hyperlordosis, Kyphosis, Hypogonadism, Craniofacial osteosclerosis, Co...	ORPHA:1328
Mucolipidosis Iii Alpha/Beta	Carpal bone hypoplasia, Spondylolisthesis, Scoliosis, Short ribs, Limitation of joint mobility, S...	OMIM:252600
Short Stature With Microcephaly And Distinctive Facies	Anisopoikilocytosis, Anemia, Proximal placement of thumb, Anteverted nares, Depressed nasal bridg...	OMIM:615789
Exocrine Pancreatic Insufficiency, Dyserythropoietic Anemia, And Calvarial Hyperostosis	Steatorrhea, Jaundice, Hepatomegaly, Exocrine pancreatic insufficiency, Splenomegaly	OMIM:612714
Combined Oxidative Phosphorylation Deficiency 11	Stillbirth, Death in childhood, Tongue fasciculations, Death in infancy, Hearing impairment, Neon...	OMIM:614922
Harderoporphyria	Increased fecal harderoporphyrin, Increased urine harderoporphyrin level, Hepatomegaly, Red urine...	OMIM:618892
Turner Syndrome Due To Structural X Chromosome Anomalies	Retrognathia, Reduced bone mineral density, Abnormal pinna morphology, Enlarged thorax, Pectus ex...	ORPHA:99413
Mosaic Monosomy X	Retrognathia, Reduced bone mineral density, Abnormal pinna morphology, Enlarged thorax, Pectus ex...	ORPHA:99228
Monosomy X	Retrognathia, Reduced bone mineral density, Abnormal pinna morphology, Enlarged thorax, Pectus ex...	ORPHA:99226
Turner Syndrome	Retrognathia, Reduced bone mineral density, Abnormal pinna morphology, Enlarged thorax, Pectus ex...	ORPHA:881
Malakoplakia	Prostate neoplasm, Hematuria, Neoplasm of the rectum, Dysuria, Urinary hesitancy, Urinary urgency...	ORPHA:556
Marcus-Gunn Syndrome	Nephrolithiasis, Choanal atresia, Cleft palate, Abnormal heart morphology, Abnormality of the sen...	ORPHA:91412
Galactosemia I	Decreased liver function, Premature ovarian insufficiency, Cirrhosis, Hepatomegaly, Galactosuria,...	OMIM:230400
Kaposiform Lymphangiomatosis	Abnormal ischium morphology, Abnormal femur morphology, Abnormal form of the vertebral bodies, Fr...	ORPHA:464329
Rabson-Mendenhall Syndrome	Polydactyly, Clitoral hypertrophy, Advanced eruption of teeth, Wide nose, Long penis, Anteverted ...	ORPHA:769
Fryns Microphthalmia Syndrome	Tessier cleft, Bilateral cleft palate, Bilateral cleft lip	OMIM:600776
Lenz-Majewski Hyperostotic Dwarfism	Abnormal finger morphology, Bifid uvula, Wide mouth, Symphalangism affecting the phalanges of the...	ORPHA:2658
Mend Syndrome	Abnormal nasal bridge morphology, 2-3 toe syndactyly, High palate, Aortic valve stenosis, Asymmet...	ORPHA:401973
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation	Ankle flexion contracture, Hypospadias, Scoliosis, Tapered finger, Pectus excavatum, Kyphosis, Ab...	ORPHA:464311
Joubert Syndrome 21	Occipital encephalocele, Single naris, Bell-shaped thorax, Encephalocele, Sensorineural hearing i...	OMIM:615636
Arthrogryposis, Cleft Palate, Craniosynostosis, And Impaired Intellectual Development	Retrognathia, Slender long bone, Thin ribs, Decreased calvarial ossification, Micrognathia, Cleft...	OMIM:618265
Juvenile Polyposis Syndrome	Gastrointestinal hemorrhage, Neoplasm of the pancreas, Arteriovenous malformation, Hamartomatous ...	ORPHA:2929
Treacher Collins Syndrome 1	Cleft soft palate, Microtia, Narrow mouth, Choanal atresia, Atresia of the external auditory cana...	OMIM:154500
Nestor-Guillermo Progeria Syndrome	Limited elbow movement, Thin vermilion border, Dental malocclusion, Dental crowding, Scoliosis, O...	OMIM:614008
Autosomal Recessive Malignant Osteopetrosis	Abnormal metaphysis morphology, Anemia, Lymphadenopathy, Delayed eruption of teeth, Bowing of the...	ORPHA:667
Mandibulofacial Dysostosis With Ptosis, Autosomal Dominant	Stenosis of the external auditory canal, Camptodactyly, Atresia of the external auditory canal, C...	OMIM:608257
Absent Eyebrows And Eyelashes With Mental Retardation	Convex nasal ridge, Short nose, Encephalocele	OMIM:200130
Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency	Decreased liver function, Cirrhosis, Hepatomegaly, Elevated circulating hepatic transaminase conc...	ORPHA:367
Hereditary Acrokeratotic Poikiloderma	Abnormal preputium morphology, Abnormal hip bone morphology, Abnormal metacarpal morphology, Fing...	ORPHA:2907
Hirschsprung Disease-Type D Brachydactyly Syndrome	Short phalanx of hallux, Aganglionic megacolon, Brachydactyly, Short distal phalanx of the thumb	ORPHA:2150
Immunodeficiency 54	Respiratory insufficiency, Respiratory failure, Recurrent respiratory infections	OMIM:609981
Meckel Syndrome, Type 4	Postaxial hand polydactyly, Bowing of the long bones, Renal cyst, Bile duct proliferation, Cleft ...	OMIM:611134
Developmental And Epileptic Encephalopathy 100	Bilateral camptodactyly, Scoliosis, Elbow flexion contracture, High palate, Single transverse pal...	OMIM:619777
Bardet-Biedl Syndrome	Retrognathia, Hypoplasia of penis, Hypoplasia of the ovary, Dental crowding, Abnormality of the e...	ORPHA:110
Cutis Marmorata Telangiectatica Congenita	Orofacial cleft, Arteriovenous malformation, Finger syndactyly, Abnormality of the upper limb, Hy...	ORPHA:1556
You-Hoover-Fong Syndrome	Pectus excavatum, Double aortic arch, Coarctation of aorta, Cleft palate, Vascular ring, Brachyda...	OMIM:616954
Myasthenic Syndrome, Congenital, 10	Respiratory insufficiency due to muscle weakness, Tongue atrophy	OMIM:254300
Fanconi Anemia, Complementation Group C	Anterior wedging of T12, Hypergonadotropic hypogonadism, Hearing impairment, Complete duplication...	OMIM:227645
Bohring-Opitz Syndrome	Retrognathia, Annular pancreas, Fixed elbow flexion, Recurrent respiratory infections, Cholelithi...	ORPHA:97297
Orofaciodigital Syndrome Type 14	Epispadias, Supernumerary tooth, Aplasia of the epiglottis, Deviation of the hallux, Low-set, pos...	ORPHA:434179
Peroxisome Biogenesis Disorder 4A (Zellweger)	Death in infancy, Respiratory failure, Depressed nasal bridge, Epiphyseal stippling	OMIM:614862
Neu-Laxova Syndrome 2	Rocker bottom foot, Finger syndactyly, High palate, Depressed nasal ridge, Micrognathia, Cleft pa...	OMIM:616038
Trichothiodystrophy 4, Nonphotosensitive	Retrognathia, Short nose, Anteverted nares, Hypoplasia of teeth, Ventricular septal defect	OMIM:234050
Perlman Syndrome	Distal ileal atresia, Everted upper lip vermilion, Interrupted aortic arch, Long upper lip, Renal...	OMIM:267000
Bardet-Biedl Syndrome 9	Polydactyly, Postaxial hand polydactyly, Postaxial polydactyly, Syndactyly, Brachydactyly, Renal ...	OMIM:615986
Distal Deletion 3P	Thin vermilion border, Atrioventricular canal defect, Clinodactyly of the 5th finger, Anteverted ...	ORPHA:1620
Anemia, Congenital Dyserythropoietic, Type Ib	Anemia, Anemia of inadequate production, Reticulocytosis, Poikilocytosis, Anisocytosis, Syndactyl...	OMIM:615631
Neurodevelopmental Disorder With Hypotonia And Speech Delay, With Or Without Seizures	Short philtrum, Anteverted nares, Phimosis, Microtia, Narrow mouth, Hearing impairment, Chordee, ...	OMIM:620455
Klippel-Trenaunay-Weber Syndrome	Macrodactyly, Arteriovenous fistula, Finger aplasia, Hand polydactyly, Lymphangioma, Syndactyly	OMIM:149000
Mandibuloacral Dysplasia Progeroid Syndrome	Sandal gap, Narrow nasal ridge, Pectus excavatum, Elevated hemoglobin A1c, Left ventricular hyper...	OMIM:619127
Chromosome 3Q29 Duplication Syndrome	Short nose, Multiple palmar creases, Bulbous nose, Wide nasal bridge	OMIM:611936
Dend Syndrome	Short nose, Anteverted nares, Downturned corners of mouth, Elevated hemoglobin A1c, Long philtrum...	ORPHA:79134
Ataxia-Telangiectasia	Delayed puberty, Recurrent lower respiratory tract infections, Recurrent bronchitis, Hypoplasia o...	OMIM:208900
Isolated Biliary Atresia	Decreased liver function, Cirrhosis, Jaundice, Elevated circulating hepatic transaminase concentr...	ORPHA:30391
Ankyloblepharon Filiforme Adnatum-Cleft Palate Syndrome	Non-midline cleft of the upper lip, Cleft palate, Lip pit	ORPHA:1072
Vascular Ehlers-Danlos Syndrome	Pulmonary artery aneurysm, Arteriovenous fistula, Arteriovenous fistulas of celiac and mesenteric...	ORPHA:286
Cutis Gyrata-Acanthosis Nigricans-Craniosynostosis Syndrome	Narrow palate, Palmoplantar cutis gyrata, Bifid scrotum, Prominent scrotal raphe, Cleft palate, P...	ORPHA:1555
Intellectual Developmental Disorder, Autosomal Dominant 58	Single transverse palmar crease, Dental crowding, High palate, Protruding tongue, Macrotia, Broad...	OMIM:618106
Glycogen Storage Disease Due To Acid Maltase Deficiency	Atelectasis, Difficulty in tongue movements, Respiratory insufficiency, Scoliosis, Hyperlordosis,...	ORPHA:365
Icf Syndrome	Low-set ears, Protruding tongue, Micrognathia, Umbilical hernia, Recurrent respiratory infections...	ORPHA:2268
Hartnup Disorder	Glossitis	OMIM:234500
Encephalocraniocutaneous Lipomatosis	Pelvic kidney, Cryptorchidism, Hydronephrosis, Atrial septal defect, Ventricular septal defect, P...	OMIM:613001
Schizophrenia 1	Short proximal phalanx of the 4th toe, Ectopic kidney, Syndactyly	OMIM:181510
Humerofemoral Hypoplasia With Radiotibial Ray Deficiency	Retrognathia, Bowed humerus, Short clavicles, Elbow flexion contracture, Bilateral talipes equino...	OMIM:618022
Transposition Of The Great Arteries, Dextro-Looped	Transposition of the great arteries	OMIM:608808
Neurodegeneration, Childhood-Onset, With Progressive Microcephaly	Death in childhood, Sensorineural hearing impairment, Respiratory failure, Cryptorchidism, Microp...	OMIM:619847
Ventriculomegaly With Defects Of The Radius And Kidney	Absent radius, Bowed forearm bones, Absent thumb, Forearm undergrowth	OMIM:602200
Dubowitz Syndrome	Aplastic anemia, Clinodactyly of the 5th finger, Hypospadias, Gastroesophageal reflux, Delayed er...	OMIM:223370
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation	Urinary incontinence, Dental crowding, Pectus excavatum, Pulmonic stenosis, Aortic valve stenosis...	ORPHA:261552
Pneumocystosis	Respiratory failure requiring assisted ventilation, Acute infectious pneumonia, Respiratory insuf...	ORPHA:723
X-Linked Female Restricted Facial Dysmorphism-Short Stature-Choanal Atresia-Intellectual Disability	Abnormal cortical gyration, Cyst of the ductus choledochus, High palate, Short foot, Anal atresia...	ORPHA:480880
Dihydropyrimidine Dehydrogenase Deficiency	Respiratory failure requiring assisted ventilation, Retrognathia, Deep palmar crease, Delayed eru...	ORPHA:1675
Curry-Jones Syndrome	Finger syndactyly, Intestinal malrotation, Broad thumb, Foot polydactyly, Abnormality of thumb ph...	ORPHA:1553
Fanconi Anemia, Complementation Group D2	Esophageal atresia, Low-set ears, Tracheoesophageal fistula, Hypergonadotropic hypogonadism, Apla...	OMIM:227646
Craniofacial-Deafness-Hand Syndrome	Short nose, Hypoplasia of the maxilla, Ulnar deviation of the hand, Malar flattening, Narrow nari...	OMIM:122880
Staphylococcal Necrotizing Pneumonia	Pneumothorax, Pulmonary pneumatocele, Acute infectious pneumonia, Pleural empyema, Pleural effusi...	ORPHA:36238
Leigh Syndrome	Respiratory insufficiency, Respiratory failure, Sensorineural hearing impairment	OMIM:256000
Coffin-Siris Syndrome 12	Pectus excavatum, Broad thumb, Hypospadias, Anteverted nares, Patent foramen ovale, Radioulnar sy...	OMIM:619325
Symptomatic Form Of Hfe-Related Hemochromatosis	Cirrhosis, Hepatomegaly, Erectile dysfunction, Hepatocellular carcinoma, Decreased libido, Infert...	ORPHA:465508
Grange Syndrome	Renal artery stenosis, Coronary artery stenosis, Renovascular hypertension, Syndactyly, Brachydac...	OMIM:602531
Microcephaly 30, Primary, Autosomal Recessive	Clinodactyly of the 5th finger, Cleft soft palate, Uplifted earlobe, Pierre-Robin sequence, Choan...	OMIM:620183
Short Stature, Microcephaly, And Endocrine Dysfunction	Long nose, Pes cavus, Tooth malposition, Sensorineural hearing impairment, Broad nasal tip, Promi...	OMIM:616541
Charcot-Marie-Tooth Disease Type 4B2	Kyphoscoliosis, Pes cavus, Proximal muscle weakness in upper limbs, Abnormal foot morphology, Dis...	ORPHA:99956
Familial Colorectal Cancer Type X	Gastrointestinal hemorrhage, Neoplasm of the pancreas, Neoplasm of the rectum, Stomach cancer, He...	ORPHA:440437
Limb-Mammary Syndrome	Cleft hard palate, Clinodactyly of the 5th finger, Breast aplasia, 3-4 finger cutaneous syndactyl...	ORPHA:69085
Mowat-Wilson Syndrome	Urinary incontinence, Dental crowding, Everted lower lip vermilion, Pectus excavatum, Pulmonic st...	ORPHA:2152
Parenteral Nutrition-Associated Cholestasis	Cirrhosis, Jaundice, Elevated circulating hepatic transaminase concentration, Hepatomegaly, Chole...	ORPHA:567983
Thin Ribs-Tubular Bones-Dysmorphism Syndrome	Abnormal palate morphology, Low-set, posteriorly rotated ears, Slender long bone, Abnormal pelvic...	ORPHA:1506
Xerosis And Growth Failure With Immune And Pulmonary Dysfunction Syndrome	Retrognathia, Reduced bone mineral density, Microtia, Eclabion, Hypoplastic nasal bridge, Long ph...	OMIM:620510
Al-Gazali Syndrome	Osteopenia, Broad distal phalanx of finger, Bowed humerus, Proximal radio-ulnar synostosis, Wrist...	OMIM:609465
Brain Malformations With Or Without Urinary Tract Defects	Short nose, Anteverted nares, Vesicoureteral reflux, Narrow mouth, Renal hypoplasia, Hydronephros...	OMIM:613735
Birk-Barel Syndrome	Short philtrum, Single transverse palmar crease, High palate, Bifid uvula, Submucous cleft soft p...	OMIM:612292
Oculocerebral Hypopigmentation Syndrome, Cross Type	Abnormal palate morphology, Abnormal thumb morphology, Short nose, Anemia, Anteverted nares, Narr...	ORPHA:2719
Developmental Delay With Or Without Intellectual Impairment Or Behavioral Abnormalities	High, narrow palate, Short philtrum, Renal tubular acidosis, Hematochezia, Recurrent respiratory ...	OMIM:619575
Bifid Nose With Or Without Anorectal And Renal Anomalies	Precocious puberty, Anteriorly placed anus, Unilateral renal agenesis, Rectovaginal fistula	OMIM:608980
Thumb Agenesis, Short Stature, And Immunodeficiency	Absent thumb, Anosmia	OMIM:274190
Camptomelic Syndrome, Long-Limb Type	Bowing of the long bones, Micromelia	OMIM:211990
Renal And Mullerian Duct Hypoplasia	Short nose, Anteriorly displaced urethral meatus, Renal hypoplasia, Micrognathia, Horseshoe kidne...	OMIM:266810
Cutis Laxa, Autosomal Dominant 1	Emphysema, Bronchiectasis, Long philtrum, Convex nasal ridge, Ventricular septal defect, Peripher...	OMIM:123700
Pili Torti-Onychodysplasia Syndrome	Palmoplantar keratoderma, Cleft lip, Cleft palate, Cutaneous syndactyly	ORPHA:2890
Waardenburg Syndrome Type 2	Abnormality of the pulmonary artery, Aganglionic megacolon	ORPHA:895
Deafness-Lymphedema-Leukemia Syndrome	Chronic otitis media, Sensorineural hearing impairment, Vertigo, Respiratory failure, Recurrent r...	ORPHA:3226
Dyrk1A-Related Intellectual Disability Syndrome	Pectus excavatum, Kyphosis, Structural foot deformity, Arachnodactyly, Polydactyly, Hypospadias, ...	ORPHA:464306
Paternal Uniparental Disomy Of Chromosome 6	Retrognathia, Abnormal earlobe morphology, Gingival overgrowth, High palate, Precocious puberty, ...	ORPHA:96191
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation	Hepatomegaly, Crohn's disease, Splenomegaly, Atrophic gastritis, Lymphocytic infiltration of the ...	OMIM:616100
Meckel Syndrome, Type 2	Polydactyly, Postaxial hand polydactyly, Bowing of the long bones, Renal cyst, Bile duct prolifer...	OMIM:603194
14Q22Q23 Microdeletion Syndrome	Bilateral single transverse palmar creases, Short 4th metacarpal, Clinodactyly of the 5th finger,...	ORPHA:264200
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Intermediate Form	Anal fissure, Gastroesophageal reflux, Abnormal esophagus morphology, Ankyloglossia, Dysphagia, M...	ORPHA:89842
Marden-Walker Syndrome	Retrognathia, Pectus excavatum, Arachnodactyly, Bifid uvula, Hypospadias, Cleft palate, Radioulna...	ORPHA:2461
Femur, Unilateral Bifid, With Monodactylous Ectrodactyly	Aplasia of the ulna, Split hand, Absent tibia, Hand monodactyly, Bifid femur, Foot monodactyly	OMIM:228250
Holoprosencephaly 3	Abnormality of the nose, Central diabetes insipidus, Solitary median maxillary central incisor, P...	OMIM:142945
Reynolds Syndrome	Cirrhosis, Jaundice, Hepatomegaly, Gastroesophageal reflux, Ascites, Abnormal gastric mucosa morp...	ORPHA:779
Holoprosencephaly 1	Tessier cleft, Proboscis, Diabetes insipidus, Adrenal hypoplasia, Median cleft palate, Aplasia of...	OMIM:236100
Idiopathic Pulmonary Hemosiderosis	Reticular pattern on pulmonary HRCT, Diffuse alveolar hemorrhage, Pulmonary fibrosis, Nodular pat...	ORPHA:99931
Neurodevelopmental Disorder With Microcephaly, Impaired Language, And Gait Abnormalities	Clinodactyly, Syndactyly	OMIM:619091
Multiple Mitochondrial Dysfunctions Syndrome 2 With Hyperglycinemia	Respiratory insufficiency, Respiratory failure, Death in infancy	OMIM:614299
Charcot-Marie-Tooth Disease Type 1F	Abnormality of the hand, Proximal muscle weakness in upper limbs, Pes cavus, Distal lower limb mu...	ORPHA:101085
Toriello-Lacassie-Droste Syndrome	Epispadias, Short nose, Aganglionic megacolon, Hypospadias, Anteverted nares, Hearing impairment,...	ORPHA:3339
3-Hydroxy-3-Methylglutaryl-Coa Synthase-2 Deficiency	Steatorrhea, Dicarboxylic aciduria, Elevated circulating hepatic transaminase concentration, Hepa...	OMIM:605911
Neuromyelitis Optica Spectrum Disorder	Respiratory failure	ORPHA:71211
Camptobrachydactyly	Aplasia/Hypoplasia of the thumb, Finger syndactyly, Camptodactyly of finger, Brachydactyly, Ulnar...	ORPHA:1319
Mitochondrial Complex I Deficiency, Nuclear Type 18	Respiratory failure, Death in infancy	OMIM:618240
Prader-Willi Syndrome	Delayed puberty, Radial deviation of finger, Syndactyly, Clinodactyly, Adrenal insufficiency, Dec...	OMIM:176270
Adenylosuccinase Deficiency	Elevated urinary succinylaminoimidazole carboxamide riboside level, Short nose, Anteverted nares,...	OMIM:103050
Tracheobronchopathia Osteochondroplastica	Atelectasis, Respiratory insufficiency, Bronchitis, Esophagitis, Recurrent pneumonia, Calcificati...	ORPHA:3348
Severe Neurodegenerative Syndrome With Lipodystrophy	Respiratory failure	ORPHA:363400
Ulnar Agenesis And Endocardial Fibroelastosis	Aplasia of the ulna, Neonatal death, Finger aplasia	OMIM:276822
Distal Deletion 19P	Pulmonary valve atresia, Tricuspid valve prolapse, Short philtrum, Hypoplasia of the maxilla, Ara...	ORPHA:96129
Infantile Hypotonia-Oculomotor Anomalies-Hyperkinetic Movements-Developmental Delay Syndrome	Short nose, Gastroesophageal reflux, 2-3 toe syndactyly, Prominent nasal tip, Bilateral talipes e...	ORPHA:522077
Epilepsy, X-Linked 2, With Or Without Impaired Intellectual Development And Dysmorphic Features	Retrognathia, 2-3 toe cutaneous syndactyly, Long nose, Narrow mouth, High palate, Micrognathia, C...	OMIM:301091
Joubert Syndrome 33	Splenomegaly, Syndactyly	OMIM:617767
Chromosome 6Q24-Q25 Deletion Syndrome	High, narrow palate, Sandal gap, Prominent fingertip pads, High palate, Patent ductus arteriosus,...	OMIM:612863
Caroli Syndrome	Hematemesis, Cirrhosis, Jaundice, Elevated circulating hepatic transaminase concentration, Melena...	ORPHA:480520
Neurodevelopmental Disorder With Or Without Autism Or Seizures	Submucous cleft hard palate, Bifid uvula, Absent thumb	OMIM:619239
Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 1	Aplastic anemia, Clinodactyly of the 5th finger, Ulnar bowing, Amegakaryocytic thrombocytopenia, ...	OMIM:605432
Mismatch Repair Cancer Syndrome 3	Colon cancer, Neoplasm of the rectum	OMIM:619097
Aorta Coarctation	Perimembranous ventricular septal defect, Cardiomegaly, Hypoplastic aortic arch, Aortic valve atr...	ORPHA:1457
15q26 overgrowth syndrome	Polycystic kidney dysplasia, Mandibular prognathia, Vesicoureteral reflux, High palate, Abnormal ...	DECIPHER:81
Li-Fraumeni Syndrome	Neoplasm of the pancreas, Ovarian neoplasm, Neoplasm of the rectum, Stomach cancer, Colorectal po...	ORPHA:524
Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset	Respiratory failure requiring assisted ventilation, Difficulty in tongue movements, Respiratory i...	ORPHA:308552
Manitoba Oculotrichoanal Syndrome	Anal stenosis, Anteriorly placed anus, Vaginal atresia	OMIM:248450
Whim Syndrome	Severe periodontitis, Atelectasis, Parotitis, Lymphopenia, Lymphadenitis, Abnormal neutrophil mor...	ORPHA:51636
Hypermobile Ehlers-Danlos Syndrome	Rectal prolapse, High, narrow palate, Abnormality of the wrist, Anorectal anomaly, Gastroesophage...	ORPHA:285
Chromosome 13Q14 Deletion Syndrome	Clinodactyly of the 5th finger, Supernumerary nipple, Single transverse palmar crease, Patent for...	OMIM:613884
Craniotubular Dysplasia, Ikegawa Type	Long philtrum, Diaphyseal dysplasia, Thick lower lip vermilion, Platyspondyly, Anteverted nares, ...	OMIM:619727
Brain-Lung-Thyroid Syndrome	Abnormal pulmonary interstitial morphology, Hypospadias, Recurrent respiratory infections, Sensor...	ORPHA:209905
Mesomelic Dysplasia, Kantaputra Type	Tarsal synostosis, Mesomelia, Carpal synostosis, Radial bowing	OMIM:156232
Charcot-Marie-Tooth Disease, Type 4B3	Urinary incontinence, Syndactyly	OMIM:615284
Kindler Syndrome	Anal stenosis, Palmoplantar hyperkeratosis, Phimosis, Dysphagia, Oral leukoplakia, Urethral steno...	OMIM:173650
Charcot-Marie-Tooth Disease Type 4C	Pes cavus, Pes valgus, Abnormal foot morphology, Difficulty in tongue movements, Hammertoe, Respi...	ORPHA:99949
Myopathy, Epilepsy, And Progressive Cerebral Atrophy	Chylothorax, Arachnodactyly, Micrognathia, Thymus hyperplasia, Talipes equinovarus	OMIM:619036
Attenuated Familial Adenomatous Polyposis	Neoplasm of the stomach, Colorectal polyposis, Rectal polyposis, Adenocarcinoma of the colon, Lar...	ORPHA:220460
Radial-Renal Syndrome	Absent radius, Abnormal pinna morphology, Absent thumb	OMIM:179280
Camptobrachydactyly	Congenital finger flexion contractures, Hand polydactyly, Short toe, Syndactyly, Brachydactyly, S...	OMIM:114150
Meckel Syndrome	Talipes, Anencephaly, Encephalocele, Low-set, posteriorly rotated ears, Postaxial hand polydactyl...	ORPHA:564
Shwachman-Diamond Syndrome 1	Steatorrhea, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Metaphyseal s...	OMIM:260400
Snakebite Envenomation	Respiratory failure, Epistaxis, Gingival bleeding	ORPHA:449285
Trichothiodystrophy 1, Photosensitive	Short nose, Intestinal obstruction, Retrognathia, Triangular mouth, Death in infancy, Macrotia, F...	OMIM:601675
Chanarin-Dorfman Syndrome	Sensorineural hearing impairment, Microtia, Everted lower lip vermilion	OMIM:275630
Classical Ehlers-Danlos Syndrome	Rectal prolapse, Gastroesophageal reflux, Talipes equinovarus, Dislocated radial head, Cervical i...	ORPHA:287
Microphthalmia, Lenz Type	Orofacial cleft, Abnormal shoulder morphology, Hydroureter, Hypospadias, Clinodactyly of the 5th ...	ORPHA:568
Vitamin K-Dependent Clotting Factors, Combined Deficiency Of, 1	Short nose, Epiphyseal stippling, Epistaxis, Cerebral hemorrhage, Short distal phalanx of finger	OMIM:277450
Acute Lung Injury	Pneumonia, Respiratory failure, Diffuse alveolar hemorrhage, Abnormal pulmonary interstitial morp...	ORPHA:178320
Axenfeld-Rieger Syndrome, Type 1	Anal stenosis, Hypospadias, Anal atresia	OMIM:180500
Micromelic Bone Dysplasia With Cloverleaf Skull	Micromelia	OMIM:156830
Nephronophthisis 19	Nephronophthisis, Hepatomegaly, Cholestasis, Hepatic fibrosis, Bile duct proliferation, Splenomeg...	OMIM:616217
Neurodevelopmental Disorder With Ataxia, Hypotonia, And Microcephaly	Short 4th metacarpal, 2-4 toe cutaneous syndactyly, Split hand, Tapered finger, Short 3rd metacar...	OMIM:618569
Multiple Mitochondrial Dysfunctions Syndrome 1	Respiratory insufficiency, Respiratory failure, Neonatal death, Death in infancy	OMIM:605711
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 3	Hydronephrosis, Hydroureter, Microcolon	OMIM:619362
Pterygium Colli, Isolated	Protruding ear, Short nose	OMIM:177990
Dyschondrosteosis-Nephritis Syndrome	Madelung deformity, Ulnar bowing, Microdontia, Micromelia, Aplasia/Hypoplasia of the radius, Radi...	ORPHA:1765
T-Cell Immunodeficiency With Thymic Aplasia	Emphysema, Abnormally low T cell receptor excision circle level, Lymphopenia, Recurrent bronchopu...	OMIM:242700
Atypical Pantothenate Kinase-Associated Neurodegeneration	Tongue atrophy	ORPHA:216873
Riddle Syndrome	Abnormal pulmonary interstitial morphology, Arthritis, Neonatal asphyxia, Bronchitis, Recurrent s...	ORPHA:420741
Antley-Bixler Syndrome With Genital Anomalies And Disordered Steroidogenesis	Rocker bottom foot, Clitoral hypertrophy, Femoral bowing, Bifid scrotum, Arachnodactyly, Ovarian ...	OMIM:201750
Mucopolysaccharidosis Type 2, Severe Form	Sensorineural hearing impairment, Temporomandibular joint ankylosis, Umbilical hernia, Thickened ...	ORPHA:217085
Omphalocele Syndrome, Shprintzen-Goldberg Type	Gastroesophageal reflux, Anal atresia	ORPHA:3164
Immunodeficiency 87 And Autoimmunity	Jaundice, Hepatomegaly, Necrotizing enterocolitis, Cholestasis, Ascites, Hepatic failure, Elevate...	OMIM:619573
Lethal Omphalocele-Cleft Palate Syndrome	Retrognathia, Cleft soft palate, Bifid uvula, Unilateral cleft lip, Cleft palate	ORPHA:2736
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 1	Steatorrhea, Hepatomegaly, Proximal placement of thumb, Ulnar deviation of the 2nd finger, Long f...	OMIM:616263
Mitochondrial Complex Iii Deficiency, Nuclear Type 8	Respiratory failure, Death in childhood	OMIM:615838
Cowden Syndrome	Abnormal penis morphology, Colorectal polyposis, Bone cyst, Scoliosis, High palate, Enlarged poly...	ORPHA:201
Avian Influenza	Pneumothorax, Miscarriage, Pleural effusion, Pneumonia, Respiratory failure	ORPHA:454836
Congenital Varicella Syndrome	Micromelia	ORPHA:291
Juvenile Sialidosis Type 2	Abnormal form of the vertebral bodies, Gingival overgrowth, Low-set ears, Protruding tongue, Hear...	ORPHA:93399
Atypical Werner Syndrome	Rocker bottom foot, Delayed puberty, Aortic valve stenosis, Peripheral arterial stenosis, Abnorma...	ORPHA:79474
Ophthalmoplegia, Progressive, With Scrotal Tongue And Mental Deficiency	Furrowed tongue	OMIM:165150
Neurodegeneration With Developmental Delay, Early Respiratory Failure, Myoclonic Seizures, And Brain Abnormalities	Hearing impairment, Respiratory failure, Cryptorchidism, Limb joint contracture	OMIM:620327
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 1	Butterfly vertebrae, Incomplete partition of the cochlea type II, Talipes, Sensorineural hearing ...	OMIM:617660
Lipoid Proteinosis	Thick lower lip vermilion, High palate, Nasal polyposis, Abnormality of the gingiva, Abnormal ora...	ORPHA:530
Alopecia-Contractures-Dwarfism-Intellectual Disability Syndrome	Clinodactyly of the 5th finger, Finger syndactyly, Abnormal dental enamel morphology, Synostosis ...	ORPHA:1005
Ichthyosis, Congenital, Autosomal Recessive 2	Short finger, External genital hypoplasia, Everted lower lip vermilion, Short toe, Palmoplantar k...	OMIM:242100
Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 1	Respiratory failure, Cervical myelopathy, Myelopathy, Death in childhood	OMIM:617186
Unilateral Ocular Duplication	Midline facial cleft, Cleft palate, Median cleft upper lip	ORPHA:3374
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency	Autoimmune hemolytic anemia, Reduced red cell adenosine deaminase level, Aplasia of the thymus, B...	OMIM:102700
Faciocardiomelic Syndrome	Polydactyly, Slender long bone, Anteverted nares, Hypoplastic pelvis, Common atrium, Micrognathia...	OMIM:612731
Bile Acid Synthesis Defect, Congenital, 5	Jaundice, Portal fibrosis, Elevated circulating hepatic transaminase concentration, Hepatomegaly,...	OMIM:616278
Oculotrichoanal Syndrome	Anal stenosis, Anteriorly placed anus	ORPHA:2717
Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 1	Kyphoscoliosis, Osteopenia, Platyspondyly, Joint dislocation, Progressive congenital scoliosis, T...	OMIM:225400
Mucopolysaccharidosis Type 2, Attenuated Form	Sensorineural hearing impairment, Temporomandibular joint ankylosis, Umbilical hernia, Thickened ...	ORPHA:217093
Isolated Anencephaly	Thymus hyperplasia, Cleft lip, Adrenal hypoplasia, Maternal diabetes	ORPHA:563609
Developmental Delay, Impaired Speech, And Behavioral Abnormalities	Bifid scrotum, Kyphosis, Broad philtrum, Joint hypermobility, Hypospadias, Short uvula, Short phi...	OMIM:619475
Mitochondrial Complex Iv Deficiency, Nuclear Type 10	Hepatomegaly, Single transverse palmar crease, High palate, Renal hypoplasia, Ketonuria	OMIM:619053
Triosephosphate Isomerase Deficiency	Respiratory insufficiency, Death in adolescence, Kyphosis, Death in infancy, Respiratory insuffic...	OMIM:615512
Hyperphosphatasia-Intellectual Disability Syndrome	Aganglionic megacolon, High palate, Shortening of all distal phalanges of the fingers, Micrognath...	ORPHA:247262
Phosphoribosylpyrophosphate Synthetase Superactivity	Short nose, Death in childhood, Hypospadias, Sensorineural hearing impairment, High palate, Low-s...	OMIM:300661
Arrhythmogenic Cardiomyopathy With Variable Ectodermal Abnormalities	Palmoplantar keratoderma, Patent foramen ovale, Notched primary central incisor, Right atrial enl...	OMIM:620519
Cholestasis, Progressive Familial Intrahepatic, 3	Cirrhosis, Jaundice, Intrahepatic cholestasis, Elevated circulating hepatic transaminase concentr...	OMIM:602347
Proteus Syndrome	Macrodactyly, Bronchogenic cyst, Enlarged kidney, Arteriovenous malformation, Abnormal finger mor...	ORPHA:744
Granulomatous Disease, Chronic, Autosomal Recessive, 1	Rectal abscess, Hepatomegaly, Splenomegaly, Liver abscess	OMIM:233700
Granulomatous Disease, Chronic, Autosomal Recessive, 2	Rectal abscess, Hepatomegaly, Splenomegaly, Liver abscess	OMIM:233710
American Trypanosomiasis	Achalasia, Aganglionic megacolon, Splenomegaly, Hepatomegaly	ORPHA:3386
Combined Oxidative Phosphorylation Deficiency 19	Hepatomegaly, Macrovesicular hepatic steatosis, Gastroesophageal reflux, Microvesicular hepatic s...	OMIM:615595
Beta-Thalassemia Intermedia	Decreased liver function, Cirrhosis, Jaundice, Hepatomegaly, Cholelithiasis, Proximal tubulopathy...	ORPHA:231222
Renal Tubular Dysgenesis	Anuria, Pulmonary hypoplasia	OMIM:267430
Primary Sclerosing Cholangitis	Elevated circulating hepatic transaminase concentration, Adenocarcinoma of the large intestine, C...	ORPHA:171
Autoimmune Lymphoproliferative Syndrome Due To Ctla4 Haploinsuffiency	Hepatomegaly, Crohn's disease, Inflammation of the large intestine, Splenomegaly, Atrophic gastri...	ORPHA:436159
X-Linked Agammaglobulinemia	Chronic otitis media, Arthritis, Sensorineural hearing impairment, Glossoptosis, Sinusitis, Abnor...	ORPHA:47
Hutchinson-Gilford Progeria Syndrome	Abnormal nasal tip morphology, Retrognathia, Reduced bone mineral density, Narrow nasal ridge, De...	ORPHA:740
Boomerang Dysplasia	Fibular aplasia, Hypoplastic nasal septum, Hypoplastic iliac body, Neonatal death, Absent radius,...	OMIM:112310
Chand Syndrome	Atelectasis, Agenesis of maxillary incisor, Short fifth metatarsal, Imperforate hymen, Abnormal o...	ORPHA:1401
46,Xy Ovotesticular Difference Of Sex Development	Epispadias, Abnormal labia morphology, Abnormality of the female genitalia, Hyperpigmented genita...	ORPHA:325345
Fanconi Anemia, Complementation Group U	Hypoplasia of the radius, Absent scaphoid, Aplasia of the 1st metacarpal, Absent thumb, Absent ra...	OMIM:617247
Beare-Stevenson Cutis Gyrata Syndrome	Narrow palate, Limited elbow extension, Hypospadias, High palate, Bifid scrotum, Prominent scrota...	OMIM:123790
Granulomatous Disease, Chronic, Autosomal Recessive, 4	Rectal abscess, Hepatomegaly, Splenomegaly, Liver abscess	OMIM:233690
Autosomal Dominant Cutis Laxa	Emphysema, Unilateral renal agenesis, Aortic aneurysm, Bronchiolitis, Coarctation of aorta, Dilat...	ORPHA:90348
Aplasia Cutis Congenita	Finger syndactyly, Toe syndactyly	ORPHA:1114
Bardet-Biedl Syndrome 6	Hypospadias, Renal cyst, Postaxial polydactyly, Syndactyly, Diabetes mellitus	OMIM:605231
Spinocerebellar Ataxia Type 1	Respiratory failure	ORPHA:98755
Mitochondrial Trifunctional Protein Deficiency	Pes cavus, Equinovarus deformity, Respiratory insufficiency, Equinus calcaneus, Decreased patella...	ORPHA:746
Fanconi-Bickel Syndrome	Hepatomegaly, Generalized aminoaciduria, Renal tubular acidosis, Hypercalciuria, Increased hepati...	ORPHA:2088
Ectodermal Dysplasia 1, Hypohidrotic, X-Linked	Short nose, Everted upper lip vermilion, Conical tooth, Underdeveloped nasal alae, Hypoplastic ni...	OMIM:305100
Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies	Short nose, Genu valgum, Cleft soft palate, Hypoplasia of the ovary, Leukocytosis, Intestinal mal...	OMIM:619321
Aneurysm-Osteoarthritis Syndrome	Retrognathia, Arterial tortuosity, Pectus excavatum, Arterial dissection, Pulmonic stenosis, Arac...	ORPHA:284984
Muscular Dystrophy, Congenital, With Or Without Seizures	Respiratory failure, Progressive hearing impairment	OMIM:620166
Adult Acute Respiratory Distress Syndrome	Pneumonia, Respiratory failure, Pulmonary edema	ORPHA:70578
Dpagt1-Cdg	Anemia, Camptodactyly, Arachnodactyly, Stroke-like episode, Pulmonary hypoplasia, Intracranial he...	ORPHA:86309
Abetalipoproteinemia	Kyphoscoliosis, Osteopenia, Steatorrhea, Pes cavus, Distal lower limb muscle weakness, Respirator...	ORPHA:14
Congenital Disorder Of Glycosylation, Type Iiaa	Hepatomegaly, Unilateral renal agenesis, Cholestasis, Biliary cirrhosis, Bilateral talipes equino...	OMIM:620454
Microtia	Hypoplastic helices, Unilateral conductive hearing impairment, Microtia, Abnormal pinna morpholog...	ORPHA:83463
Shprintzen Omphalocele Syndrome	Anal atresia	OMIM:182210
Boutonneuse Fever	Respiratory failure, Abnormal skin morphology of the palm, Abnormality of the plantar skin of foot	ORPHA:83313
Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis Spectrum	Gastrointestinal inflammation, Acute kidney injury, Renal tubular epithelial necrosis, Vaginal st...	ORPHA:95455
Microtia With Meatal Atresia And Conductive Deafness	Microtia, Aplasia/Hypoplasia of the middle ear, Conductive hearing impairment, Wide mouth, Anotia	OMIM:251800
Congenital Sialidosis Type 2	Polydactyly, Gingival overgrowth, Low-set ears, Protruding tongue, Hearing impairment, Respirator...	ORPHA:93400
Cholestasis, Progressive Familial Intrahepatic, 9	Jaundice, Intrahepatic cholestasis, Hepatomegaly, Fibro-obliterative bile-duct lesion, Portal hyp...	OMIM:619849
Neurooculorenal Syndrome	Unilateral renal agenesis, Short hallux, Polymicrogyria, Intestinal malrotation, Micrognathia, St...	OMIM:620305
Arima Syndrome	Polyuria, Cirrhosis, Nephronophthisis, Hematuria, Hepatomegaly, Tubulointerstitial fibrosis, Poly...	OMIM:243910
Adult Syndrome	Breast hypoplasia, Finger syndactyly, Hypoplastic nipples, Abnormality of the dentition, Absent n...	ORPHA:978
Systemic Sclerosis	Acute kidney injury, Abnormal stomach morphology, Abnormality of the gastrointestinal tract, Oste...	ORPHA:90291
46,Xx Difference Of Sex Development-Skeletal Anomalies Syndrome	Dislocated radial head, Mandibular condyle hypoplasia, Increased size of the clitoris, Deformed h...	ORPHA:2975
Mitochondrial Complex Iv Deficiency, Nuclear Type 1	Death in childhood, Sensorineural hearing impairment, High palate, Respiratory insufficiency due ...	OMIM:220110
Primary Biliary Cholangitis	Gastrointestinal inflammation, Steatorrhea, Jaundice, Cirrhosis, Abnormal intrahepatic bile duct ...	ORPHA:186
Autoinflammation With Pulmonary And Cutaneous Vasculitis	Respiratory failure, Interstitial pneumonitis, Recurrent upper respiratory tract infections	OMIM:620296
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency	Hepatocellular adenoma, Cirrhosis, Elevated circulating hepatic transaminase concentration, Hepat...	ORPHA:79240
Noonan Syndrome 1	Radial deviation of finger, Pulmonic stenosis, Hypogonadism, Clinodactyly, Hypospadias, Cleft pal...	OMIM:163950
Neurodevelopmental Disorder With Hypotonia, Neonatal Respiratory Insufficiency, And Thermodysregulation	Tracheomalacia, Anteverted nares, Gingival overgrowth, Low-set ears, Protruding tongue, Wide mout...	OMIM:618797
Granulomatosis With Polyangiitis	Chronic otitis media, Pleuritis, Respiratory insufficiency, Oral ulcer, Localized pulmonary hemor...	OMIM:608710
Alpha-1-Antitrypsin Deficiency	Cirrhosis, Jaundice, Hepatomegaly, Hepatocellular carcinoma, Cholestasis, Nephrotic syndrome, Hep...	ORPHA:60
Combined Oxidative Phosphorylation Deficiency 4	Respiratory failure, Death in infancy	OMIM:610678
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form	Renal tubular epithelial necrosis, Dicarboxylic aciduria, High, narrow palate, Hepatomegaly, Myog...	ORPHA:228308
Intellectual Developmental Disorder With Impaired Language And Dysmorphic Facies	Pelvic kidney, 2-3 toe syndactyly, Vesicoureteral reflux, High palate, Hydronephrosis, Tibial tor...	OMIM:618653
Bazex-Dupre-Christol Syndrome	Low hanging columella, Narrow nasal ridge, Furrowed tongue, Joint hypermobility, Underdeveloped n...	OMIM:301845
Niemann-Pick Disease, Type C2	Death in childhood, Respiratory insufficiency, Death in infancy, Pulmonary fibrosis, Respiratory ...	OMIM:607625
Complete Atrioventricular Septal Defect	Displacement of the papillary muscles, Primum atrial septal defect, Recurrent pneumonia, Right ve...	ORPHA:1329
Infantile Krabbe Disease	Delayed brainstem auditory evoked response conduction time, Hearing impairment, Ankle clonus, Res...	ORPHA:206436
Mounier-Kühn Syndrome	Bronchitis, Recurrent bronchopulmonary infections, Pneumonia, Recurrent respiratory infections, T...	ORPHA:3347
Duodenal Atresia	Abnormality of the pulmonary artery, Annular pancreas, Duodenal atresia	ORPHA:1203
Microphthalmia With Brain And Digit Anomalies	Proximal placement of thumb, Finger syndactyly, High palate, Abnormality of the hypothalamus-pitu...	ORPHA:139471
Nevus Comedonicus Syndrome	Finger syndactyly, Toe syndactyly, Preaxial polydactyly	ORPHA:64754
Ophthalmoplegia-Intellectual Disability-Lingua Scrotalis Syndrome	Furrowed tongue	ORPHA:2743
Fanconi Anemia, Complementation Group E	Hypergonadotropic hypogonadism, Hearing impairment, Complete duplication of thumb phalanx, Absent...	OMIM:600901
Microphthalmia, Syndromic 6	Retrognathia, Female hypogonadism, Bifid uvula, Small scrotum, Polydactyly, Abnormality of the ha...	OMIM:607932
Anemia, Hypochromic Microcytic, With Iron Overload 2	Hepatomegaly, Azoospermia, Elevated hepatic iron concentration, Splenomegaly, Hypogonadism	OMIM:615234
Amyotrophic Lateral Sclerosis	Respiratory failure, Xerostomia, Tongue atrophy	ORPHA:803
Bloom Syndrome	Clinodactyly of the 5th finger, Prominent nose, Cryptorchidism, Hand polydactyly, Malar flattenin...	OMIM:210900
Car T Cell Therapy-Associated Cytokine Release Syndrome	Respiratory failure, Pleural effusion, Pulmonary edema	ORPHA:542323
Severe Generalized Junctional Epidermolysis Bullosa	Pneumothorax, Erosion of oral mucosa, Osteoporosis, Enamel hypoplasia, Abnormal oral mucosa morph...	ORPHA:79404
Microcephaly-Seizures-Intellectual Disability-Heart Disease Syndrome	Abnormal sternum morphology, Short ribs, Postaxial hand polydactyly, Abnormal rib morphology, Cry...	ORPHA:2519
Early-Onset Epileptic Encephalopathy And Intellectual Disability Due To Grin2A Mutation	Short nose	ORPHA:289266
Chronic Granulomatous Disease	Hepatomegaly, Liver abscess, Tracheoesophageal fistula, Pyloric stenosis, Splenomegaly	ORPHA:379
Loeys-Dietz Syndrome	Orofacial cleft, Vascular dilatation, Arterial tortuosity, Aortic aneurysm, High palate, Pectus e...	ORPHA:60030
Tyrosinemia, Type I	Elevated urinary delta-aminolevulinic acid, Enlarged kidney, Gastrointestinal hemorrhage, Elevate...	OMIM:276700
Dyskeratosis Congenita	Cirrhosis, Palmoplantar keratoderma, Neoplasm of the pancreas, Hepatomegaly, Anorectal anomaly, A...	ORPHA:1775
Fanconi Anemia, Complementation Group A	Hypergonadotropic hypogonadism, Hearing impairment, Complete duplication of thumb phalanx, Absent...	OMIM:227650
Isolated Split Hand-Split Foot Malformation	Finger syndactyly, Oligodactyly, Split hand, Absent hand	ORPHA:2440
Very Long Chain Acyl-Coa Dehydrogenase Deficiency	Elevated circulating hepatic transaminase concentration, Jaundice, Anteriorly placed anus, Hepato...	ORPHA:26793
Granulomatous Disease, Chronic, X-Linked	Hepatomegaly, Liver abscess, Rectal abscess, Ascites, Splenomegaly	OMIM:306400
Isolated Arrhinia	Midline defect of the nose, Microtia, Aplasia/Hypoplasia of the nasal septum, Absent nasal septal...	ORPHA:1134
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 2	Cleft upper lip, Cleft palate, Macroglossia	OMIM:613150
Immunodeficiency 73A With Defective Neutrophil Chemotaxis And Leukocytosis	Rectal abscess, Impaired neutrophil chemotaxis	OMIM:608203
Central Hypoventilation Syndrome, Congenital, 3	Respiratory failure	OMIM:619483
Loeys-Dietz Syndrome 3	Retrognathia, Arterial tortuosity, Ventricular hypertrophy, Tortuous cerebral arteries, Aortic to...	OMIM:613795
Shwachman-Diamond Syndrome 2	Steatorrhea, Hyperechogenic pancreas, Hepatomegaly, High palate, Metaphyseal widening, Exocrine p...	OMIM:617941
3-Methylglutaconic Aciduria Type 7	Pneumothorax, Respiratory failure	ORPHA:445038
Deafness-Craniofacial Syndrome	Abnormal palate morphology, Short philtrum, Sensorineural hearing impairment, Short lingual frenu...	ORPHA:3241
Neurodegeneration With Brain Iron Accumulation 2A	Hearing impairment, Short nose, Micrognathia	OMIM:256600
Histiocytosis-Lymphadenopathy Plus Syndrome	Rocker bottom foot, Hepatomegaly, Flexion contracture of toe, Patent ductus arteriosus, Azoosperm...	OMIM:602782
Mitochondrial Complex I Deficiency, Nuclear Type 10	Respiratory failure	OMIM:618233
Lynch Syndrome	Neoplasm of the stomach, Gastrointestinal hemorrhage, Neoplasm of the pancreas, Intestinal polypo...	ORPHA:144
Solar Urticaria	Vertigo, Abnormal lip morphology, Abnormal tongue morphology	ORPHA:97230
Angelman Syndrome	Widely spaced teeth, Scoliosis, Mandibular prognathia, Protruding tongue, Hypoplasia of the maxil...	OMIM:105830
Telangiectasia, Hereditary Hemorrhagic, Type 1	Tongue telangiectasia, Hematemesis, Gastrointestinal hemorrhage, Dilatation of celiac artery, Art...	OMIM:187300
S-Adenosylhomocysteine Hydrolase Deficiency	Respiratory failure, Pes planus, Abnormality of the dentition	ORPHA:88618
Meconium Ileus	Meconium ileus, Microcolon	OMIM:614665
Molybdenum Cofactor Deficiency, Complementation Group A	Short nose, Xanthinuria, Decreased urinary sulfate, Increased urinary taurine, Decreased urinary ...	OMIM:252150
Joubert Syndrome 1	Anteverted nares, Postaxial hand polydactyly, Low-set ears, Protruding tongue, Occipital myelomen...	OMIM:213300
Glycogen Storage Disease Ib	Enlarged kidney, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Decreased...	OMIM:232220
Criss-Cross Heart	Transposition of the great arteries, Tricuspid stenosis, Pulmonic stenosis, Abnormal mitral valve...	ORPHA:1461
T-Cell Immunodeficiency With Thymic Aplasia	Lymphadenopathy, Thyroiditis, Decreased proportion of naive T cells, T lymphocytopenia, Sinusitis...	ORPHA:83471
Angelman Syndrome Due To Maternal 15Q11Q13 Deletion	Widely spaced teeth, Scoliosis, Mandibular prognathia, Protruding tongue, Limitation of movement ...	ORPHA:98794
Burning Mouth Syndrome	Smooth tongue, Abnormality of taste sensation, Strawberry tongue, Tongue pain, Parageusia, Abnorm...	ORPHA:353253
Lmna-Related Cardiocutaneous Progeria Syndrome	Emphysema, Coronary artery atherosclerosis, Aortic root aneurysm, Ventricular hypertrophy, Mitral...	ORPHA:363618
Slc39A8-Cdg	Osteopenia, Elbow flexion contracture, Low-set ears, Hearing impairment, Limb undergrowth, Cutane...	ORPHA:468699
Leigh Syndrome	Respiratory failure, Sensorineural hearing impairment, Multiple joint contractures, Macrotia	ORPHA:506
Mast Cell Sarcoma	Hypoplasia of the ear cartilage	ORPHA:66661
Listeriosis	Pneumonia, Stiff neck, Miscarriage, Hearing impairment, Back pain, Septic arthritis, Respiratory ...	ORPHA:533
Fbln1-Related Developmental Delay-Central Nervous System Anomaly-Syndactyly Syndrome	Congenital bilateral hip dislocation, Cryptorchidism, Syndactyly	ORPHA:404451
Poliomyelitis	Respiratory failure requiring assisted ventilation, Respiratory failure, Stiff neck, Paralytic ileus	ORPHA:2912
Diabetes Mellitus, Neonatal, With Congenital Hypothyroidism	Hepatomegaly, Splenic cyst, Polycystic kidney dysplasia, Pancreatic hypoplasia, Cholestasis, Panc...	OMIM:610199
Hypertelorism-Hypospadias-Polysyndactyly Syndrome	Epispadias, Hypospadias, Finger syndactyly, Depressed nasal ridge, Broad thumb, Long philtrum, Br...	ORPHA:2211
Neonatal Inflammatory Skin And Bowel Disease	Recurrent gastroenteritis, Perianal dermatitis, Anal fissure, Left ventricular hypertrophy	ORPHA:294023
Malignant Atrophic Papulosis	Vertigo, Intestinal perforation, Pleural effusion, Intestinal fistula, Respiratory failure	ORPHA:679
Omenn Syndrome	Abnormal metaphysis morphology, Pneumonia, Short toe	ORPHA:39041
Telangiectasia, Hereditary Hemorrhagic, Type 2	Tongue telangiectasia, Hematemesis, Spontaneous, recurrent epistaxis, Clubbing, Nasal mucosa tela...	OMIM:600376
Tukel Syndrome	Postaxial oligodactyly, Carpal synostosis, Syndactyly, Carpal bone aplasia	OMIM:609428
Methylcobalamin Deficiency Type Cble	Hemolytic-uremic syndrome, Macrocytic anemia, Pancytopenia, Increased mean corpuscular volume, Sy...	ORPHA:2169
Cadds	Short nose, Micrognathia, Adrenal hypoplasia	ORPHA:369942
Telangiectasia, Hereditary Hemorrhagic, Type 4	Tongue telangiectasia, Ischemic stroke, Spinal arteriovenous malformation, Lip telangiectasia, Di...	OMIM:610655
Neuroocular Syndrome	Retrognathia, Prominent fingertip pads, Pectus excavatum, Umbilical hernia, Sacral dimple, Deep p...	OMIM:619539
Atrial Septal Defect 1	Bicuspid aortic valve, Atrial septal dilatation, Aortic valve stenosis, Tetralogy of Fallot with ...	OMIM:108800
Pendred Syndrome	Abnormality of the inner ear, Respiratory insufficiency, Sensorineural hearing impairment, Trache...	ORPHA:705
Steinert Myotonic Dystrophy	Respiratory failure requiring assisted ventilation, Male hypogonadism, Intestinal pseudo-obstruct...	ORPHA:273
Neuroendocrine Neoplasm Of Appendix	Hepatomegaly, Ovarian neoplasm, Elevated circulating hepatic transaminase concentration, Midgut m...	ORPHA:100079
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib	Enlarged kidney, Hepatocellular adenoma, Pancreatitis, Irregular menstruation, Hepatomegaly, Incr...	ORPHA:79259
Acquired Hypertrichosis Lanuginosa	Glossitis, Macroglossia, Ovarian neoplasm	ORPHA:2221
Mitochondrial Complex I Deficiency, Nuclear Type 1	Hypospadias, Respiratory insufficiency, Sensorineural hearing impairment, Tongue fasciculations, ...	OMIM:252010
Congenital Disorder Of Glycosylation, Type Iiw	Supernumerary tooth, Bilateral choanal atresia, Recurrent otitis media, Wide nose, Narrow chest, ...	OMIM:619525
Mercury Poisoning	Respiratory failure, Interstitial pneumonitis	ORPHA:330021
Cirrhosis-Dystonia-Polycythemia-Hypermanganesemia Syndrome	Jaundice, Elevated circulating hepatic transaminase concentration, Hepatomegaly, Esophageal varix...	ORPHA:309854
Molybdenum Cofactor Deficiency, Complementation Group B	Short nose, Xanthinuria, Increased urinary taurine, Decreased urinary urate, Increased urinary hy...	OMIM:252160
Sacral Defect With Anterior Meningocele	Rectal abscess, Neurogenic bladder, Bilateral talipes equinovarus, Absence of the sacrum, Urinary...	OMIM:600145
Poirier-Bienvenu Neurodevelopmental Syndrome	Mandibular prognathia, Protruding tongue, Downturned corners of mouth, Open mouth, Smooth philtrum	OMIM:618732
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis	Death in childhood, Atelectasis, Respiratory insufficiency, Pectus excavatum, Pulmonary fibrosis,...	OMIM:618278
Combined Oxidative Phosphorylation Defect Type 23	Respiratory failure	ORPHA:444013
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome	Respiratory insufficiency, Respiratory failure	OMIM:613845
Ppoma	Intestinal obstruction, Gastrointestinal hemorrhage, Neoplasm of the pancreas, Intrahepatic chole...	ORPHA:97278
Hyperlipoproteinemia, Type Id	Hepatomegaly, Pancreatitis, Splenomegaly, Recurrent pancreatitis, Colitis	OMIM:615947
Branchioskeletogenital Syndrome	Penoscrotal hypospadias, Absent external genitalia, Upper limb peromelia, Unilateral cleft palate...	ORPHA:1299
Bosma Arhinia Microphthalmia Syndrome	Hypospadias, Dental malocclusion, High palate, Anosmia, Choanal atresia, Hypoplasia of teeth, Par...	OMIM:603457
Epidermolysis Bullosa Simplex With Pyloric Atresia	Microtia, Flexion contracture, Oral mucosal blisters, Congenital pyloric atresia	ORPHA:158684
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes	Protein-losing enteropathy, Clubbing of fingers, Glossitis, Clubbing, Hamartomatous polyposis, Xe...	OMIM:175500
Congenital Fibrosis Of Extraocular Muscles	Congenital sensorineural hearing impairment, Hypogonadotropic hypogonadism, Finger aplasia	ORPHA:45358
1P21.3 Microdeletion Syndrome	Short nose, Long ear, Micrognathia, Broad nasal tip, Wide mouth, Joint hypermobility	ORPHA:293948
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Severe Form	Gastrointestinal inflammation, Chronic kidney disease, Anal fissure, Gastroesophageal reflux, Mit...	ORPHA:79408
Scalp-Ear-Nipple Syndrome	Delayed eruption of teeth, Abnormal antihelix morphology, Small earlobe, Microtia, Underdeveloped...	ORPHA:2036
Intellectual Developmental Disorder With Hypotonia And Behavioral Abnormalities	Cryptorchidism, Anteriorly placed anus, Rectoperineal fistula	OMIM:618748
Carney Complex	Esophageal neoplasm, Neoplasm of the stomach, Neoplasm of the pancreas, Neoplasm of the rectum, T...	ORPHA:1359
Angelman Syndrome	Widely spaced teeth, Precocious puberty in females, Scoliosis, Mandibular prognathia, Protruding ...	ORPHA:72
Lelis Syndrome	Mandibular prognathia, Furrowed tongue, Carious teeth, Palmoplantar hyperkeratosis, Hypodontia	ORPHA:140936
Ramos-Arroyo Syndrome	Deviated nasal septum, Aganglionic megacolon, Smooth tongue, Anteverted nares, Xerostomia, Bilate...	ORPHA:1051
Grfoma	Intestinal obstruction, Gastrointestinal hemorrhage, Neoplasm of the pancreas, Intrahepatic chole...	ORPHA:97261
Hughes-Stovin Syndrome	Vasculitis, Pulmonary artery aneurysm, Arterial stenosis	ORPHA:228116
Anemia, Congenital Dyserythropoietic, Type Ia	Macrocytic dyserythropoietic anemia, Anemia of inadequate production, Bite cells, Reticulocytosis...	OMIM:224120
Peripartum Cardiomyopathy	Respiratory failure, Pedal edema	ORPHA:563
Mitochondrial Trifunctional Protein Deficiency 1	Respiratory insufficiency, Respiratory failure	OMIM:609015
Immunodeficiency 113 With Autoimmunity And Autoinflammation	Hepatomegaly, Minimal change glomerulonephritis, Hematochezia, Splenomegaly, Celiac disease, Para...	OMIM:620565
Hereditary Hemorrhagic Telangiectasia	Tongue telangiectasia, Gastrointestinal hemorrhage, Arteriovenous malformation, Intestinal polypo...	ORPHA:774
Somatostatinoma	Intestinal obstruction, Steatorrhea, Neoplasm of the pancreas, Gastrointestinal hemorrhage, Intra...	ORPHA:97283
Early-Onset Progressive Leukoencephalopathy-Central Nervous System Calcification-Deafness-Visual Impairment Syndrome	Respiratory failure, Vestibular areflexia, Absent brainstem auditory responses	ORPHA:3240
Hemorrhagic Fever-Renal Syndrome	Pulmonary edema, Pleural effusion, Back pain, Epistaxis, Pneumonia, Respiratory failure	ORPHA:340
Non-Progressive Cerebellar Ataxia With Intellectual Disability	Thick lower lip vermilion, Mesiodens, Wide nose, Anteverted nares, Narrow mouth, Short ear, Long ...	ORPHA:314647
Leukocyte Adhesion Deficiency, Type I	Rectal abscess	OMIM:116920
Combined Oxidative Phosphorylation Deficiency 37	Respiratory insufficiency, Respiratory failure, Sensorineural hearing impairment	OMIM:618329
Monosomy 13Q14	Abnormality of the gastrointestinal tract, Clinodactyly of the 5th finger, Aplasia/Hypoplasia of ...	ORPHA:1587
Wilson Disease	Portal fibrosis, Ascites, Acute hepatic failure, Dysphagia, Splenomegaly, Hepatic steatosis, Jaun...	OMIM:277900
Pearson Marrow-Pancreas Syndrome	Steatorrhea, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Hypercalciuri...	OMIM:557000
Microtia-Anotia	Microtia, Anotia	OMIM:600674
Multiple Endocrine Neoplasia Type 2	Kyphoscoliosis, Aganglionic megacolon, Cervical neoplasm, Abnormal tongue morphology, Ganglioneur...	ORPHA:653
Incontinentia Pigmenti	Orofacial cleft, Delayed eruption of teeth, Finger syndactyly, Abnormal dental enamel morphology,...	ORPHA:464
Reynolds Syndrome	Steatorrhea, Gastrointestinal hemorrhage, Elevated circulating hepatic transaminase concentration...	OMIM:613471
Agammaglobulinemia 1, Autosomal Recessive	Rectal abscess	OMIM:601495
Choroidal Atrophy-Alopecia Syndrome	Finger syndactyly, Supernumerary nipple	ORPHA:1433
Congenital Labioscrotal Agenesis-Cerebellar Malformation-Corneal Dystrophy-Facial Dysmorphism Syndrome	Absence of labia majora, Hypospadias, Gastroesophageal reflux, Hypoplastic labia minora, Absent s...	ORPHA:495875
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2Z	Proximal upper limb amyotrophy, Joint contracture of the hand, Proximal muscle weakness in upper ...	ORPHA:466768
Aniridia-Cerebellar Ataxia-Intellectual Disability Syndrome	Abnormality of the pulmonary artery	ORPHA:1065
Combined Oxidative Phosphorylation Deficiency 3	Respiratory insufficiency, Respiratory failure, Death in childhood, Death in infancy	OMIM:610505
Glycogen Storage Disease Ic	Hepatomegaly, Hematuria, Decreased glomerular filtration rate, Chronic pancreatitis, Hepatocellul...	OMIM:232240
Generalized Arterial Calcification Of Infancy	Stippled calcification of the elbow, Mixed hearing impairment, Hypophosphatemic rickets, Fused ce...	ORPHA:51608
Pelizaeus-Merzbacher Disease, Connatal Form	Respiratory failure	ORPHA:280210
Klatskin Tumor	Hepatomegaly, Jaundice, Extrahepatic cholestasis, Cholangiocarcinoma	ORPHA:99978
46,Xx Sex Reversal 2	Hypoplasia of the uterus, Ovotestis, Azoospermia, Infertility, Bifid scrotum, True hermaphroditis...	OMIM:278850
Ataxia, Intention Tremor, And Hypotonia Syndrome, Childhood-Onset	Scoliosis, Ankyloglossia	OMIM:619352
Lipodystrophy, Congenital Generalized, Type 1	Clitoral hypertrophy, Cirrhosis, Elevated circulating hepatic transaminase concentration, Hepatom...	OMIM:608594
Pitt-Hopkins-Like Syndrome 2	Scoliosis, Wide mouth, Protruding tongue	OMIM:614325
Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Dominant	Pes cavus, Knee flexion contracture, Sensorineural hearing impairment, Elbow flexion contracture,...	OMIM:148210
Lipodystrophy, Congenital Generalized, Type 2	Decreased fertility, Clitoral hypertrophy, Cirrhosis, Elevated circulating hepatic transaminase c...	OMIM:269700
Glucagonoma	Intestinal obstruction, Steatorrhea, Gastrointestinal hemorrhage, Neoplasm of the pancreas, Intra...	ORPHA:97280
Nocardiosis	Pneumothorax, Emphysema, Pleuritis, Pleural effusion, Pneumonia, Respiratory failure, Osteomyelitis	ORPHA:31204
Spinocerebellar Ataxia Type 36	Hearing impairment, Vertigo, Tongue fasciculations, Tongue atrophy	ORPHA:276198
Congenital Tricuspid Valve Dysplasia	Respiratory failure requiring assisted ventilation, Respiratory failure, Anomalous pulmonary veno...	ORPHA:555874
Lipodystrophy, Familial Partial, Type 7	Polyuria, Short nose, Narrow nasal ridge, Pleural effusion, Narrow mouth, Spontaneous pneumothora...	OMIM:606721
Beckwith-Wiedemann Syndrome	Enlarged kidney, Hepatomegaly, Cardiomegaly, Renal cortical cysts, Vesicoureteral reflux, Nephrol...	OMIM:130650
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4	Transposition of the great arteries, Pulmonic stenosis, Myocardial fibrosis, Atrial septal defect...	OMIM:253800
Peroxisome Biogenesis Disorder 4B	Ureterocele, Single transverse palmar crease, Short nose, Adrenal insufficiency	OMIM:614863
Psoriasis 14, Pustular	Geographic tongue, Oligoarthritis, Furrowed tongue, Polyarticular arthritis	OMIM:614204
Bickerstaff Brainstem Encephalitis	Respiratory failure requiring assisted ventilation, Respiratory failure, Pneumonia, Respiratory t...	ORPHA:79138
Plummer-Vinson Syndrome	Cheilitis, Glossitis, Intra-oral hyperpigmentation, Narrow mouth, Esophageal web, Tongue atrophy	ORPHA:54028
Angelman Syndrome Due To Paternal Uniparental Disomy Of Chromosome 15	Mandibular prognathia, Widely spaced teeth, Wide mouth, Protruding tongue	ORPHA:98795
Microsporidiosis	Prostatitis, Abnormal fallopian tube morphology, Glossitis, Bronchitis, Bronchiolitis, Sinusitis,...	ORPHA:2552
Long Qt Syndrome 8	Syndactyly	OMIM:618447
Spinocerebellar Ataxia 36	Hearing impairment, Tongue fasciculations, Tongue atrophy	OMIM:614153
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 9	Respiratory failure	OMIM:616538
Bilateral Perisylvian Polymicrogyria	Choanal atresia, Pectus excavatum, Protruding tongue, Hearing impairment, Micrognathia, Distal ar...	ORPHA:98889
Angelman Syndrome Due To A Point Mutation	Mandibular prognathia, Widely spaced teeth, Wide mouth, Protruding tongue	ORPHA:411511
Mucoepithelial Dysplasia, Hereditary	Furrowed tongue, Erythematous oral mucosa, Hearing impairment, Recurrent pneumonia, Pneumonia, Fi...	OMIM:158310
Ectodermal Dysplasia-Skin Fragility Syndrome	Cheilitis, Anoperineal fistula, Abnormal tongue morphology, Abnormality of the dentition, Abnorma...	ORPHA:158668
3-Methylglutaconic Aciduria, Type Viii	Sensorineural hearing impairment, Death in infancy, Respiratory arrest, Neonatal death, Respirato...	OMIM:617248
Unilateral Polymicrogyria	Stroke, Abnormal heart morphology, Epistaxis, Pulmonary arteriovenous malformation, Pseudobulbar ...	ORPHA:268943
Mitochondrial Complex Iv Deficiency, Nuclear Type 5	Hypospadias, Microvesicular hepatic steatosis, Micrognathia, Dysphagia, Simplified gyral pattern,...	OMIM:220111
Neurodevelopmental Disorder With Impaired Language And Ataxia And With Or Without Seizures	Hearing impairment, Hand clenching, Protruding tongue	OMIM:619580
Mitochondrial Complex I Deficiency, Nuclear Type 32	Respiratory failure, Death in childhood, Patent urachus	OMIM:618252
Relapsing Polychondritis	Hematuria, Hepatitis, Proteinuria, Renal insufficiency, Anteriorly placed anus	ORPHA:728
Odontoonychodermal Dysplasia	Smooth tongue, Conical incisor, Abnormality of primary teeth, Palmoplantar hyperkeratosis, Hypodo...	OMIM:257980
Developmental And Epileptic Encephalopathy 31B	Gingival overgrowth, Low-set ears, Protruding tongue	OMIM:620352
Niemann-Pick Disease Type C	Respiratory insufficiency, Aspiration pneumonia, Hearing impairment, Abnormal lung morphology, Re...	ORPHA:646
Hereditary Folate Malabsorption	Glossitis, Recurrent respiratory infections, Cheilitis	ORPHA:90045
Alström Syndrome	Precocious puberty in females, Abnormal vestibular function, Kyphosis, Tooth agenesis, Accelerate...	ORPHA:64
Agel Amyloidosis	Hearing impairment, Respiratory tract infection, Xerostomia, Tongue atrophy	ORPHA:85448
Congenital Respiratory-Biliary Fistula	Tracheal stenosis	ORPHA:2040
Hartnup Disease	Glossitis, Gingivitis	ORPHA:2116
Aprosencephaly Syndrome	Anencephaly, Finger aplasia	OMIM:207770
Tuberous Sclerosis Complex	Respiratory failure, Pulmonary lymphangiomyomatosis, Respiratory tract infection	ORPHA:805
Generalized Pustular Psoriasis	Arthritis, Cheilitis, Geographic tongue, Pedal edema	ORPHA:247353
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Severe Form	Smooth tongue, Enamel hypoplasia, Palmoplantar keratoderma, Craniosynostosis, Oral mucosal blisters	ORPHA:79396
X-Linked Dystonia-Parkinsonism	Aspiration pneumonia, Protruding tongue	ORPHA:53351
Acrodermatitis Enteropathica	Glossitis, Cheilitis, Furrowed tongue, Abnormality of the tongue	ORPHA:37
Melkersson-Rosenthal Syndrome	Cheilitis, Macroglossia, Furrowed tongue	ORPHA:2483
Cleft Palate With Or Without Ankyloglossia, X-Linked	Bifid uvula, Cleft palate, Ankyloglossia	OMIM:303400
Ankyloglossia With Or Without Tooth Anomalies	Supernumerary tooth, Ankyloglossia	OMIM:106280
Methylmalonic Acidemia With Homocystinuria Type Cblf	Glossitis, Cleft palate, Stomatitis	ORPHA:79284
Methylmalonic Acidemia With Homocystinuria, Type Cblc	Glossitis, Low-set ears, Smooth philtrum, Stomatitis	ORPHA:79282
Imerslund-Gräsbeck Syndrome	Glossitis, Angular cheilitis	ORPHA:35858
Thoracic Outlet Syndrome	Abnormal rib morphology	ORPHA:97330
Igg4-Related Thyroid Disease	Sialadenitis, Tracheal stenosis	ORPHA:64744
Pachyonychia Congenita 3	Palmoplantar keratoderma, Furrowed tongue, Gingivitis, Oral leukoplakia, Palmar hyperkeratosis, C...	OMIM:615726
Plague	Glossitis, Arthritis, Acute infectious pneumonia, Hearing impairment, Inflammation of the large i...	ORPHA:707
Choreoacanthocytosis	Equinovarus deformity, Arthritis, Protruding tongue, Temporomandibular joint crepitus, Peroneal m...	ORPHA:2388

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 Wnt5a

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 Wnt5a.

No publications found that use IMPC mice or data for Wnt5a.

Order Mouse and ES Cells

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

MGI Allele	Allele Type	Produced
Wnt5a^{tm1(KOMP)Vlcg}	Reporter-tagged deletion allele (with selection cassette)	ES Cells
Wnt5a^{tm40111(L1L2_Bact_P)}	KO first allele (reporter-tagged insertion with conditional potential)	Targeting vectors
Wnt5a^{tm1a(EUCOMM)Wtsi}	KO first allele (reporter-tagged insertion with conditional potential)	Targeting vectors, ES Cells

Sequence

Guides

Sequence	Guide sequence	pam	chr	start	stop	strand	Genome build	gRNA Concentration	Truncated Guide	Reversed	Sanger service	Guide format	Guide source

Nucleases

Nuclease type	Nuclease class

Genotype primers

Sequence	Name

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