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Gene: Sox11 MGI:98359

Not currently registered for phenotyping at IMPC

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

Gene Summary

Name:

SRY (sex determining region Y)-box 11

Synonyms:

end1, 1110038H03Rik, 6230403H02Rik

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 Sox11 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 Sox11 (2 diseases)
Human diseases predicted to be associated with Sox11 (2419 diseases)

The table below shows human diseases associated to Sox11 by orthology or direct annotation.

Disease	Similarity of phenotypes	Matching phenotypes	Source
Coffin-Siris Syndrome		Abnormal heart morphology, Wide mouth, Broad philtrum, Joint hypermobility, Short 5th finger, Her...	ORPHA:1465
Intellectual Developmental Disorder With Microcephaly And With Or Without Ocular Malformations Or Hypogonadotropic Hypogonadism		Short palpebral fissure, Decreased response to growth hormone stimulation test, Short philtrum, D...	OMIM:615866

The table below shows human diseases predicted to be associated to Sox11 by phenotypic similarity.

Disease	Matching phenotypes	Source
Greenberg Dysplasia	Retrognathia, Short ribs, Short long bone, Decreased skull ossification, Short metacarpal, Multip...	OMIM:215140
Dyggve-Melchior-Clausen Disease	Narrow greater sciatic notch, Multicentric ossification of proximal humeral epiphyses, Cone-shape...	OMIM:223800
Contractures, Pterygia, And Spondylocarpotarsal Fusion Syndrome 1A	Spondylolisthesis, Pectus carinatum, Craniosynostosis, Cervical spinal canal stenosis, Tarsal syn...	OMIM:178110
Chst3-Related Skeletal Dysplasia	Kyphoscoliosis, Long philtrum, Genu valgum, Irregular epiphyses, Cubitus valgus, Small epiphyses,...	ORPHA:263463
Spondyloepiphyseal Dysplasia Tarda	Kyphoscoliosis, Limited elbow movement, Spurred metaphyses of the upper limbs, Enlarged metaphyse...	ORPHA:93284
Chudley-Mccullough Syndrome	Dysplastic corpus callosum, Hydrocephalus, Polymicrogyria, Gray matter heterotopia, Cerebellar dy...	OMIM:604213
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
Spondyloepiphyseal Dysplasia Congenita	Limited elbow movement, Delayed pubic bone ossification, Limitation of knee mobility, Pectus cari...	OMIM:183900
Atelosteogenesis, Type Ii	Sandal gap, Bifid humerus, Short greater sciatic notch, Flat acetabular roof, Death in infancy, D...	OMIM:256050
Aarskog-Scott Syndrome	Everted lower lip vermilion, Pectus excavatum, Umbilical hernia, Joint hypermobility, Long philtr...	ORPHA:915
Otopalatodigital Syndrome, Type I	Broad distal phalanx of finger, Sandal gap, Dislocated radial head, Femoral bowing, Pectus excava...	OMIM:311300
Anauxetic Dysplasia 1	Delayed ossification of carpal bones, Microdontia, Aortic valve stenosis, Joint hypermobility, Ce...	OMIM:607095
Smith-Mccort Dysplasia 2	Pectus carinatum, Hyperlordosis, Flat acetabular roof, Short metacarpal, Broad metatarsal, Promin...	OMIM:615222
Achondrogenesis, Type Ia	Hypoplastic sacrum, Broad clavicles, Abnormal hand bone ossification, Short ribs, Decreased skull...	OMIM:200600
Spondyloperipheral Dysplasia	Rhizomelic leg shortening, Cone-shaped epiphyses of the phalanges of the hand, Pectus carinatum, ...	OMIM:271700
Radioulnar Synostosis-Microcephaly-Scoliosis Syndrome	Clinodactyly of the 5th finger, Finger syndactyly, Pectus carinatum, Abnormality of the philtrum,...	ORPHA:3268
Progressive Spondyloepimetaphyseal Dysplasia-Short Stature-Short Fourth Metatarsals-Intellectual Disability Syndrome	Rocker bottom foot, Kyphoscoliosis, Abnormal hip bone morphology, Abnormal sternum morphology, Sh...	ORPHA:457395
Kagami-Ogata Syndrome	Kyphoscoliosis, Retrognathia, Pulmonic stenosis, Splenomegaly, Long philtrum, Coxa valga, Long cl...	OMIM:608149
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome	Abnormal metaphysis morphology, Large fontanelles, Microphthalmia, Platyspondyly, Proximal placem...	ORPHA:93267
Spondyloepiphyseal Dysplasia Congenita	Limited elbow movement, Spinal rigidity, Reduced bone mineral density, Short long bone, Glossopto...	ORPHA:94068
Mesomelic Dwarfism-Cleft Palate-Camptodactyly Syndrome	Abnormal metaphysis morphology, Retrognathia, Thin vermilion border, Abnormal lung lobation, Abno...	ORPHA:2631
Spondyloepiphyseal Dysplasia With Congenital Joint Dislocations	Bilateral single transverse palmar creases, Kyphoscoliosis, Multiple carpal ossification centers,...	OMIM:143095
Congenital Absence Of Upper Arm And Forearm With Hand Present	Polydactyly, Stillbirth, Abnormal hip bone morphology, Abnormality of the vertebral column, Abnor...	ORPHA:294975
Smith-Mccort Dysplasia 1	Short metacarpal, Kyphosis, Iliac crest serration, Hypoplastic facial bones, Metaphyseal irregula...	OMIM:607326
Odontochondrodysplasia 1	Biconvex vertebral bodies, Cone-shaped epiphyses of the phalanges of the hand, Pectus carinatum, ...	OMIM:184260
Achondrogenesis, Type Ii	Short tubular bones of the hand, Stillbirth, Abnormal foot morphology, Barrel-shaped chest, Hypop...	OMIM:200610
14Q24.1Q24.3 Microdeletion Syndrome	Long philtrum, Dislocated radial head, Limited elbow extension and supination, Truncus arteriosus...	ORPHA:401935
Classical-Like Ehlers-Danlos Syndrome Type 2	Kyphoscoliosis, Bilateral ptosis, Sandal gap, Pectus excavatum, Kyphosis, Arachnodactyly, Equinus...	ORPHA:536532
Disorganization, Mouse, Homolog Of	Cleft upper lip, Hand polydactyly, Cleft palate, Limb duplication, Sacral lipoma, Multiple lipoma...	OMIM:223200
Microcephaly-Cardiac Defect-Lung Malsegmentation Syndrome	Bilateral single transverse palmar creases, Abnormal lung lobation, High, narrow palate, Truncus ...	ORPHA:2516
Growth Delay-Hydrocephaly-Lung Hypoplasia Syndrome	Abnormal fibula morphology, Abnormality of the lower limb, Tibial bowing, Abnormally ossified ver...	ORPHA:3035
Intellectual Developmental Disorder With Cardiac Defects And Dysmorphic Facies	Highly arched eyebrow, Pectus excavatum, Intestinal malrotation, Long philtrum, Overlapping toe, ...	OMIM:618316
Boomerang Dysplasia	Abnormal bone ossification, Abnormal femur morphology, Abnormal tibia morphology, Abnormal metaca...	ORPHA:1263
Arthrogryposis, Distal, Type 2B1	Rocker bottom foot, Scoliosis, Mandibular prognathia, Absent phalangeal crease, High palate, Calc...	OMIM:601680
Arthrogryposis, Distal, Type 1A	Rocker bottom foot, Retrognathia, Adducted thumb, Overlapping toe, Scoliosis, Elbow flexion contr...	OMIM:108120
Mosaic Trisomy 9	Rocker bottom foot, Deep plantar creases, Abnormal liver lobulation, Intestinal malrotation, Hip ...	ORPHA:99776
Distal Duplication 15Q	High palate, Pectus excavatum, Anal atresia, Omphalocele, Joint stiffness, Camptodactyly of finge...	ORPHA:1707
Fucosidosis	Absent/hypoplastic paranasal sinuses, Absent/hypoplastic coccyx, Splenomegaly, Cardiomegaly, Hern...	OMIM:230000
Carpenter Syndrome 1	Flared iliac wing, Agenesis of permanent teeth, Pulmonic stenosis, Duplication of the proximal ph...	OMIM:201000
Diaphragmatic Defect-Limb Deficiency-Skull Defect Syndrome	Congenital diaphragmatic hernia, Abnormal femur morphology, Clinodactyly of the 5th finger, Finge...	ORPHA:2141
Arthrogryposis Multiplex Congenita 1, Neurogenic, With Myelin Defect	Retrognathia, Ankle flexion contracture, Stillbirth, Dental crowding, Elbow flexion contracture, ...	OMIM:617468
Osteogenesis Imperfecta, Type Xxi	Platyspondyly, Bell-shaped thorax, Barrel-shaped chest, Wormian bones, Scoliosis, Pectus excavatu...	OMIM:619131
Brachydactyly-Mesomelia-Intellectual Disability-Heart Defects Syndrome	Abnormal palate morphology, Abnormal shoulder morphology, Tooth agenesis, Abnormal mitral valve m...	ORPHA:1277
Metatropic Dysplasia	Abnormal metaphysis morphology, Abnormal cortical bone morphology, Clinodactyly of the 5th finger...	ORPHA:2635
Congenital Contractures Of The Limbs And Face, Hypotonia, And Developmental Delay	11 pairs of ribs, Gastroesophageal reflux, Inguinal hernia, Scoliosis, Elbow flexion contracture,...	OMIM:616266
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14	Kyphoscoliosis, Retrognathia, Small proximal tibial epiphyses, Broad distal phalanx of finger, Ab...	ORPHA:96334
Emanuel Syndrome	Kyphoscoliosis, Congenital diaphragmatic hernia, Dental crowding, Pulmonic stenosis, Aortic valve...	ORPHA:96170
Osteogenesis Imperfecta, Type Viii	Femoral bowing, Tibial bowing, Decreased skull ossification, Short metacarpal, Kyphosis, Multiple...	OMIM:610915
Lethal Congenital Contracture Syndrome 10	Femoral bowing, Short long bone, Long philtrum, Adducted thumb, Cardiomegaly, Broad ribs, Narrow ...	OMIM:617022
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type	Rhizomelia, Short philtrum, Hypoplastic iliac wing, Thin ribs, Abnormality of the calcaneus, Deat...	ORPHA:163966
Fibrochondrogenesis 1	Narrow greater sciatic notch, Short ribs, Short long bone, Dumbbell-shaped long bone, Hypoplastic...	OMIM:228520
Acrootoocular Syndrome	Kyphoscoliosis, Sandal gap, Short metacarpal, Small thenar eminence, Pectus excavatum, Prominent ...	ORPHA:2980
Metaphyseal Dysplasia With Maxillary Hypoplasia With Or Without Brachydactyly	Thin vermilion border, Short philtrum, Flared metaphysis, Premature loss of teeth, Short middle p...	OMIM:156510
Melnick-Needles Syndrome	Cone-shaped epiphyses of the phalanges of the hand, Short distal phalanx of finger, Joint hypermo...	ORPHA:2484
Three M Syndrome 2	Delayed eruption of teeth, Slender long bone, Pectus carinatum, Thin ribs, Short thorax, High pal...	OMIM:612921
Aarskog-Scott Syndrome	Radial deviation of finger, Pectus excavatum, Syndactyly, Broad philtrum, Elevated circulating lu...	OMIM:305400
Spondyloepiphyseal Dysplasia Tarda, X-Linked	Irregular epiphyses, Hip osteoarthritis, Barrel-shaped chest, Hypoplastic iliac wing, Scoliosis, ...	OMIM:313400
Catel-Manzke Syndrome	Clinodactyly of the 5th finger, Highly arched eyebrow, Scoliosis, Glossoptosis, Abnormal epiphysi...	ORPHA:1388
Osteogenesis Imperfecta, Type X	Tibial bowing, Shallow orbits, Dentinogenesis imperfecta, Thoracic hypoplasia, Joint hypermobilit...	OMIM:613848
Cardiac-Valvular Ehlers-Danlos Syndrome	Hypermobility of distal interphalangeal joints, Kyphoscoliosis, Sandal gap, Dental crowding, Pect...	ORPHA:230851
Craniofacioskeletal Syndrome	Hypoplastic frontal sinuses, Short philtrum, Short foot, Cryptorchidism, Short palm, Downslanted ...	OMIM:300712
Marden-Walker Syndrome	Abnormal sternum morphology, Kyphosis, Arachnodactyly, Long philtrum, Inguinal hernia, Scoliosis,...	OMIM:248700
Sweeney-Cox Syndrome	Upper eyelid coloboma, Short distal phalanx of finger, Short philtrum, Patent foramen ovale, Aspl...	OMIM:617746
Atelosteogenesis Type Ii	Sandal gap, Tracheobronchomalacia, Bilateral cleft palate, Short ribs, Short metacarpal, Short lo...	ORPHA:56304
Short-Rib Thoracic Dysplasia 12	Short ribs, Short long bone, Intestinal malrotation, Splenomegaly, Short finger, Inguinal hernia,...	OMIM:269860
Lujan-Fryns Syndrome	Short philtrum, Dental crowding, Scoliosis, High palate, Abnormality of the dentition, Pectus exc...	ORPHA:776
Martsolf Syndrome 1	Slender ulna, Pectus carinatum, Cardiomyopathy, Short metacarpal, Pectus excavatum, Broad femoral...	OMIM:212720
3P25.3 Microdeletion Syndrome	Proximal placement of thumb, Pulmonic stenosis, Broad thumb, Overlapping toe, Sacral dimple, Shor...	ORPHA:435638
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type	Short ribs, Decreased skull ossification, Multiple prenatal fractures, Unilateral cleft lip, Thor...	OMIM:616897
Spondyloepiphyseal Dysplasia Tarda, Autosomal Dominant	Kyphoscoliosis, Barrel-shaped chest, Arthritis, Pectus carinatum, Hypoplasia of the odontoid proc...	OMIM:184100
Arthrogryposis, Distal, Type 1C	Rocker bottom foot, Retrognathia, Wrist flexion contracture, Bifid uvula, Adducted thumb, Scolios...	OMIM:619110
Scarf Syndrome	Lambdoidal craniosynostosis, Barrel-shaped chest, Inguinal hernia, Abnormal form of the vertebral...	OMIM:312830
Arthrogryposis, Distal, Type 5D	Hypermobility of distal interphalangeal joints, Limited elbow movement, Highly arched eyebrow, Hy...	OMIM:615065
Axial Mesodermal Dysplasia Spectrum	Congenital diaphragmatic hernia, Anorectal anomaly, Abnormal form of the vertebral bodies, Abnorm...	ORPHA:1834
Shprintzen-Goldberg Craniosynostosis Syndrome	Dislocated radial head, Pectus carinatum, Pectus excavatum, Shallow orbits, Arachnodactyly, Mitra...	OMIM:182212
Brachytelephalangic Chondrodysplasia Punctata	Short distal phalanx of toe, Short distal phalanx of finger, Butterfly vertebrae, Cervical spinal...	ORPHA:79345
Myasthenic Syndrome, Congenital, 19	Retrognathia, Pes cavus, Spinal rigidity, Barrel-shaped chest, Recurrent lower respiratory tract ...	OMIM:616720
Trigonocephaly 1	High, narrow palate, Lumbar hemivertebrae, Meckel diverticulum, Metopic synostosis, Omphalocele, ...	OMIM:190440
Multiple Pterygium Syndrome, X-Linked	Hypoplastic heart, Short finger, Multiple pterygia, Joint dislocation, Thin ribs, Cleft upper lip...	OMIM:312150
Satb2-Associated Syndrome Due To A Chromosomal Rearrangement	Abnormal hip bone morphology, Dental crowding, Tibial bowing, Microdontia, Agenesis of permanent ...	ORPHA:251028
Spondyloepimetaphyseal Dysplasia, Aggrecan Type	Short finger, Irregular epiphyses, Rhizomelia, Barrel-shaped chest, Platyspondyly, Mandibular pro...	OMIM:612813
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly	Lateral clavicle hook, Hypoplasia of the radius, Narrow chest, Respiratory distress, Short ribs, ...	OMIM:617895
Intellectual Disability, Wolff Type	Orofacial cleft, Thick lower lip vermilion, Clinodactyly of the 5th finger, Inguinal hernia, Non-...	ORPHA:3080
Chromosome 18P Deletion Syndrome	Radial deviation of finger, Clinodactyly of the 5th finger, Barrel-shaped chest, Tooth malpositio...	OMIM:146390
Larsen Syndrome	Multiple carpal ossification centers, Spondylolysis, Pectus carinatum, Short metacarpal, Pectus e...	OMIM:150250
Emanuel Syndrome	Congenital diaphragmatic hernia, Dental crowding, Kyphosis, Pulmonic stenosis, Aortic valve steno...	OMIM:609029
Gillessen-Kaesbach-Nishimura Syndrome	Narrow greater sciatic notch, Retrognathia, Abnormal lung lobation, Congenital diaphragmatic hern...	OMIM:263210
Atelosteogenesis Type I	Short long bone, Thoracic hypoplasia, Malrotation of colon, Abnormal fibula morphology, Abnormal ...	ORPHA:1190
Weaver Syndrome	Retrognathia, Radial deviation of finger, Hypoplastic iliac wing, Short ribs, Prominent fingertip...	OMIM:277590
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 3	Sacral dimple, Anomalous origin of left coronary artery from the pulmonary artery, Short long bon...	OMIM:618845
Chromosome 2P16.1-P15 Deletion Syndrome	Kyphoscoliosis, Retrognathia, Everted lower lip vermilion, Pectus excavatum, Arachnodactyly, Long...	OMIM:612513
Acro-Renal-Mandibular Syndrome	Congenital diaphragmatic hernia, Pectus carinatum, Tracheoesophageal fistula, Kyphosis, Split foo...	ORPHA:958
Acitretin/Etretinate Embryopathy	Atrioventricular canal defect, Aplasia/hypoplasia involving bones of the upper limbs, Abnormality...	ORPHA:40366
Cardiofacioneurodevelopmental Syndrome	Atrioventricular canal defect, Clinodactyly of the 5th finger, Camptodactyly, Asplenia, Pulmonic ...	OMIM:619123
Perching Syndrome	Respiratory distress, Scoliosis, High palate, Camptodactyly, Joint contracture, Dysphagia, Cyanosis	OMIM:617055
Pseudoaminopterin Syndrome	Limited elbow movement, Clinodactyly of the 5th toe, Highly arched eyebrow, Pectus excavatum, Mic...	ORPHA:221120
Atelosteogenesis, Type Iii	Widened distal phalanges, Tombstone-shaped proximal phalanges, Rhizomelia, Sandal gap, Hitchhiker...	OMIM:108721
Multiple Pterygium Syndrome, Escobar Variant	Rocker bottom foot, Bilateral ptosis, Congenital diaphragmatic hernia, Dislocated radial head, Ky...	OMIM:265000
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins	Retrognathia, Meckel diverticulum, Tracheoesophageal fistula, Intestinal malrotation, Posterior r...	OMIM:265380
Mosaic Trisomy 1	Rocker bottom foot, Congenital diaphragmatic hernia, Broad 2nd toe, Arachnodactyly, Wide mouth, L...	ORPHA:1692
Autosomal Recessive Multiple Pterygium Syndrome	Abnormal sternum morphology, Pectus excavatum, Symphalangism affecting the phalanges of the hand,...	ORPHA:2990
Verheij Syndrome	Retrognathia, Long philtrum, Scoliosis, Truncus arteriosus, Hemivertebrae, Short neck, Clinodacty...	OMIM:615583
Meier-Gorlin Syndrome 1	Absent sternal ossification, Pectus carinatum, Short ribs, Microdontia, Death in infancy, Joint h...	OMIM:224690
Orofaciodigital Syndrome Type 10	Retrognathia, Mesomelic arm shortening, Oligodactyly, Prominent calcaneus, Long philtrum, Accesso...	ORPHA:2756
Frontonasal Dysplasia 1	Widely-spaced maxillary central incisors, Radial deviation of finger, Pectoral muscle hypoplasia/...	OMIM:136760
Greig Cephalopolysyndactyly Syndrome	Broad thumb, Abnormal heart morphology, Syndactyly, Umbilical hernia, Craniosynostosis, Inguinal ...	OMIM:175700
Distal 22Q11.2 Microdeletion Syndrome	Sandal gap, Highly arched eyebrow, Hyperlordosis, Arachnodactyly, Short distal phalanx of finger,...	ORPHA:261330
Shprintzen-Goldberg Syndrome	Retrognathia, Abnormal form of the vertebral bodies, Pectus carinatum, Pectus excavatum, Joint st...	ORPHA:2462
Diaphanospondylodysostosis	Abnormal liver lobulation, Decreased skull ossification, Thoracic hypoplasia, Unossified sacrum, ...	OMIM:608022
Heart Defects-Limb Shortening Syndrome	Abnormal metaphysis morphology, Abnormal tricuspid valve morphology, Narrow chest, Abnormal form ...	ORPHA:1354
Three M Syndrome 3	Long philtrum, Increased vertebral height, Clinodactyly of the 5th finger, Slender long bone, Sho...	OMIM:614205
Lipodystrophy, Generalized, With Mental Retardation, Deafness, Short Stature, And Slender Bones	Osteopenia, Genu valgum, Cubitus valgus, Generalized lipodystrophy, Metaphyseal striations, Conge...	OMIM:608154
Heterotaxy, Visceral, 1, X-Linked	Biliary atresia, Posteriorly placed anus, Short long bone, Pulmonic stenosis, Absence of the sacr...	OMIM:306955
Otopalatodigital Syndrome Type 2	Glossoptosis, Flared iliac wing, Hypoplastic frontal sinuses, Anodontia, Abnormal cardiac septum ...	ORPHA:90652
Bowen-Conradi Syndrome	Rocker bottom foot, Orofacial cleft, Abnormal lung lobation, Clinodactyly of the 5th finger, Deat...	ORPHA:1270
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
Cohen Syndrome	Short metacarpal, Leukopenia, Mitral valve prolapse, Joint hypermobility, Neutropenia, Decreased ...	OMIM:216550
Chromosome 1Q41-Q42 Deletion Syndrome	Congenital diaphragmatic hernia, Sandal gap, Upslanted palpebral fissure, Pectus excavatum, Short...	OMIM:612530
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders	Pectus carinatum, Joint stiffness, Bone marrow hypocellularity, Abnormal heart morphology, Leukop...	ORPHA:505248
Femoral-Facial Syndrome	Limited elbow movement, Aplasia/hypoplasia of the femur, Pulmonic stenosis, Short humerus, Syndac...	OMIM:134780
Cohen Syndrome	Abnormal hip bone morphology, Sandal gap, Pectus excavatum, Kyphosis, Tooth agenesis, Arachnodact...	ORPHA:193
Neurodevelopmental Disorder With Spasticity, Hypomyelinating Leukodystrophy, And Brain Abnormalities	Femoral retroversion, Unilateral wrist flexion contracture, Micrognathia, Pulmonary hypoplasia, K...	OMIM:616531
Endocrine-Cerebroosteodysplasia	Sandal gap, Tibial bowing, Syndactyly, Bilateral cleft lip, Ankyloblepharon, Fibular bowing, Micr...	OMIM:612651
Orofaciodigital Syndrome Ii	Pectus excavatum, Syndactyly, Metaphyseal irregularity, Accessory oral frenulum, Tongue nodules, ...	OMIM:252100
Van Maldergem Syndrome 2	Joint hypermobility, Clinodactyly, Short 4th metacarpal, Sacral dimple, Inguinal hernia, Scoliosi...	OMIM:615546
Van Maldergem Syndrome 1	Joint hypermobility, Clinodactyly, Short 4th metacarpal, Sacral dimple, Scoliosis, Camptodactyly,...	OMIM:601390
Platyspondylic Lethal Skeletal Dysplasia, Torrance Type	Short long bone, Short ribs, Flat acetabular roof, Dumbbell-shaped long bone, Hypoplastic ischia,...	OMIM:151210
Osteoglophonic Dysplasia	Eruption failure, Short metacarpal, Broad metatarsal, Shallow orbits, Broad thumb, Pectus excavat...	OMIM:166250
X-Linked Intellectual Disability, Siderius Type	Orofacial cleft, Scoliosis, Synophrys, Cleft upper lip, Preaxial hand polydactyly	ORPHA:85287
Myhre Syndrome	Gingival cleft, Large iliac wing, Abnormal pubic bone morphology, Joint stiffness, Bifid uvula, U...	ORPHA:2588
Maxillonasal Dysplasia	Patchy distortion of vertebrae, Mandibular prognathia, Open bite, Scoliosis, Microdontia, Tooth a...	ORPHA:1248
Chromosome 9P Deletion Syndrome	Clinodactyly of the 5th toe, Retrognathia, Sandal gap, Highly arched eyebrow, Long philtrum, Long...	OMIM:158170
C Syndrome	Radial deviation of finger, Dislocated radial head, Short metacarpal, Wide mouth, Accessory oral ...	OMIM:211750
Platyspondylic Dysplasia, Torrance Type	Abnormal carpal morphology, Platyspondyly, Narrow chest, Metaphyseal cupping, Short thorax, Bowin...	ORPHA:85166
Anauxetic Dysplasia 2	Cubitus valgus, Hyperlordosis, Thoracolumbar kyphoscoliosis, Cervical spine instability, Hypoplas...	OMIM:617396
Larsen-Like Syndrome	Kyphoscoliosis, Clinodactyly of the 5th finger, Joint dislocation, Wide anterior fontanel, Radial...	OMIM:608545
Enthesitis-Related Juvenile Idiopathic Arthritis	Thickened Achilles tendon, Abnormal heart morphology, Mitral valve prolapse, Limited mobility of ...	ORPHA:85438
Congenital Limbs-Face Contractures-Hypotonia-Developmental Delay Syndrome	Gastroesophageal reflux, Hernia, Scoliosis, High palate, Calcaneovalgus deformity, Camptodactyly,...	ORPHA:562528
Coffin-Lowry Syndrome	Abnormal form of the vertebral bodies, Pectus carinatum, Short metacarpal, Everted lower lip verm...	ORPHA:192
Gracile Bone Dysplasia	Microphthalmia, Aniridia, Slender long bone, Flared metaphysis, Thin ribs, Decreased skull ossifi...	OMIM:602361
Osebold-Remondini Syndrome	Hypoplasia of the ulna, Broad finger, Hypoplasia of the radius, Tarsal synostosis, Fibular hypopl...	OMIM:112910
Achondrogenesis Type 2	Abnormal bone ossification, Delayed pubic bone ossification, Narrow chest, Short ribs, Short long...	ORPHA:93296
20P12.3 Microdeletion Syndrome	Pectus carinatum, Narrow mouth, Broad thumb, Hypoplasia of the maxilla, Downslanted palpebral fis...	ORPHA:261295
Chromosome 22Q11.2 Deletion Syndrome, Distal	Highly arched eyebrow, Truncus arteriosus, Cleft palate, Smooth philtrum, Thin upper lip vermilion	OMIM:611867
Spondyloenchondrodysplasia With Immune Dysregulation	Kyphoscoliosis, T lymphocytopenia, Recurrent sinusitis, Metaphyseal irregularity, Lymphopenia, Ne...	OMIM:607944
Spondyloepiphyseal Dysplasia-Brachydactyly-Speech Disorder Syndrome	Short long bone, Enlarged thorax, Aplasia/Hypoplasia involving the pelvis, Pectus excavatum, Hypo...	ORPHA:163654
3Mc Syndrome 1	Highly arched eyebrow, Dental crowding, Short 5th finger, Sacral dimple, Single interphalangeal c...	OMIM:257920
Solitary Bone Cyst	Abnormal tibia morphology, Abnormal ilium morphology, Abnormality of the medullary cavity of the ...	ORPHA:83468
Fibrochondrogenesis	Abnormal metaphysis morphology, Abnormal diaphysis morphology, Bell-shaped thorax, Narrow chest, ...	ORPHA:2021
Pycnodysostosis	Spondylolysis, Spondylolisthesis, Hypoplastic iliac wing, Hyperlordosis, Kyphosis, Persistent ope...	ORPHA:763
Acrodysostosis	Abnormal femur morphology, Abnormal form of the vertebral bodies, Short metacarpal, Cone-shaped e...	ORPHA:950
Pentalogy Of Cantrell	Congenital diaphragmatic hernia, Orofacial cleft, Abnormal tibia morphology, Talipes, Non-midline...	ORPHA:1335
Triploidy	Abnormality of the gallbladder, Hepatomegaly, Narrow chest, Finger syndactyly, Non-midline cleft ...	ORPHA:3376
Pallister-Hall-Like Syndrome	Anterior hypopituitarism, Short ribs, Postaxial hand polydactyly, Micromelia, Death in infancy, M...	OMIM:241800
Neuralgic Amyotrophy	Short palpebral fissure, Acrocyanosis, Scapular winging, Narrow mouth, Sprengel anomaly, Bifid uv...	ORPHA:2901
Pde4D Haploinsufficiency Syndrome	Short metacarpal, Broad metatarsal, Joint hypermobility, Long philtrum, Cone-shaped epiphysis, Ca...	ORPHA:439822
Craniofaciofrontodigital Syndrome	Gastrointestinal hemorrhage, Pectus carinatum, Aortic valve stenosis, Lower eyelid edema, Abnorma...	ORPHA:363705
Dyssegmental Dysplasia, Silverman-Handmaker Type	Miscarriage, Short ribs, Short long bone, Hypoplastic ischia, Abnormal heart morphology, Pterygiu...	ORPHA:1865
Brachyolmia Type 3	Radial deviation of finger, Barrel-shaped chest, Scoliosis, Kyphosis, Short femoral neck, Platysp...	OMIM:113500
Craniofacial Dysmorphism, Skeletal Anomalies, And Impaired Intellectual Development Syndrome 1	Highly arched eyebrow, Pectus excavatum, Recurrent sinusitis, Joint hypermobility, Overlapping to...	OMIM:213980
Multiple Pterygium Syndrome, Lethal Type	Hypoplastic heart, Short finger, Multiple pterygia, Joint dislocation, Thin ribs, Micrognathia, C...	OMIM:253290
Cleft Palate, Cardiac Defects, And Impaired Intellectual Development	Sandal gap, Highly arched eyebrow, Broad thumb, Short 5th finger, Perimembranous ventricular sept...	OMIM:600987
Fryns Syndrome	Rocker bottom foot, Proximal placement of thumb, Meckel diverticulum, Prominent fingertip pads, I...	OMIM:229850
Microphthalmia With Limb Anomalies	Bilateral single transverse palmar creases, Sandal gap, Abnormal form of the vertebral bodies, Ab...	ORPHA:1106
Diaphanospondylodysostosis	Absent or minimally ossified vertebral bodies, Respiratory distress, Short thorax, Enlarged thora...	ORPHA:66637
Primary Ciliary Dyskinesia	Situs inversus totalis, Transposition of the great arteries, Atelectasis, Pulmonary situs ambiguu...	ORPHA:244
Microphthalmia, Syndromic 12	Congenital diaphragmatic hernia, Retrognathia, Hypoplastic left atrium, Cryptorchidism, Intestina...	OMIM:615524
Spondyloepimetaphyseal Dysplasia, Aggrecan Type	Rhizomelia, Barrel-shaped chest, Mandibular prognathia, Broad thumb, Mesomelia, Brachydactyly, Jo...	ORPHA:171866
Feingold Syndrome 1	Everted lower lip vermilion, Tracheoesophageal fistula, Tricuspid atresia, Accessory spleen, Aspl...	OMIM:164280
Chromosome 10Q26 Deletion Syndrome	Radial deviation of finger, Sandal gap, Prominent fingertip pads, Pectus excavatum, Long philtrum...	OMIM:609625
Mmep Syndrome	Orofacial cleft, Microphthalmia, Triphalangeal thumb, Split foot, Ventricular septal defect, Medi...	ORPHA:3434
Osteopathia Striata With Cranial Sclerosis	Flexion contracture of toe, Dental crowding, Pectus excavatum, Intestinal malrotation, Arachnodac...	OMIM:300373
Pseudodiastrophic Dysplasia	Scoliosis, Omphalocele, Platyspondyly, Phalangeal dislocation, Elbow dislocation	ORPHA:85174
Fetal Akinesia Deformation Sequence 4	Rocker bottom foot, Retrognathia, 11 pairs of ribs, High palate, Camptodactyly, Prenatal death, C...	OMIM:618393
Fg Syndrome Type 1	Clinodactyly of the 2nd finger, Small pituitary gland, Dental crowding, Abnormal sternum morpholo...	ORPHA:93932
Brachial Amelia, Cleft Lip, And Holoprosencephaly	Tessier cleft, Bilateral cleft palate, Scoliosis, Omphalocele, Cleft upper lip, Foot oligodactyly...	OMIM:601357
Acrocardiofacial Syndrome	Death in infancy, Split foot, Abnormal metacarpal morphology, Joint dislocation, Truncus arterios...	ORPHA:2008
Stickler Syndrome Type 1	Long philtrum, Platyspondyly, Abnormal vertebral epiphysis morphology, Abnormal epiphysis morphol...	ORPHA:90653
Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly	Short ribs, Short long bone, Flat acetabular roof, Microdontia, Mesomelia, Syndactyly, Short dist...	OMIM:614091
Marshall-Smith Syndrome	Short mandibular rami, Retrognathia, Kyphoscoliosis, Atlantoaxial dislocation, Highly arched eyeb...	OMIM:602535
Chromosome 6Pter-P24 Deletion Syndrome	Rocker bottom foot, Dental crowding, Pectus excavatum, Umbilical hernia, Joint hypermobility, Tel...	OMIM:612582
Intellectual Developmental Disorder, X-Linked, Syndromic 14	Long foot, Narrow chest, Pectus carinatum, Mandibular prognathia, Scoliosis, High palate, Pectus ...	OMIM:300676
Ehlers-Danlos Syndrome, Cardiac Valvular Type	Inguinal hernia, Genu recurvatum, Atrophic scars, Calcaneovalgus deformity, Pectus excavatum, Mit...	OMIM:225320
Adams-Oliver Syndrome 6	Truncus arteriosus, Esophageal varix, Portal hypertension, Cutis marmorata, Foot oligodactyly, Sp...	OMIM:616589
Van Den Ende-Gupta Syndrome	Narrow foot, Dislocated radial head, Dental crowding, Short ribs, Femoral bowing, Everted lower l...	OMIM:600920
Robinow Syndrome, Autosomal Dominant 3	Kyphosis, Agenesis of permanent teeth, Broad thumb, Mesomelia, Syndactyly, Long philtrum, Hypopla...	OMIM:616894
Tarp Syndrome	Rocker bottom foot, Glossoptosis, Pectus excavatum, Abnormal duodenum morphology, Tongue nodules,...	ORPHA:2886
Fryns Syndrome	Congenital diaphragmatic hernia, Abnormal aortic arch morphology, Intestinal malrotation, Wide mo...	ORPHA:2059
Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum	Abnormality of the orbital region, Abnormal form of the vertebral bodies, Osteolysis involving bo...	ORPHA:371428
8Q24.3 Microdeletion Syndrome	Rocker bottom foot, Gastrointestinal hemorrhage, Highly arched eyebrow, Pectus excavatum, Abnorma...	ORPHA:508488
Congenital Myopathy 22B, Severe Fetal	Retrognathia, Spinal rigidity, Dental crowding, Pectus excavatum, Thoracic hypoplasia, Triangular...	OMIM:620369
Gombo Syndrome	Microphthalmia, Radial deviation of finger, Abnormal heart morphology, Brachydactyly, Clinodactyly	OMIM:233270
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome	Pectus excavatum, Broad thumb, Bicuspid aortic valve, Short 5th finger, Overlapping toe, Long phi...	ORPHA:508498
Stuve-Wiedemann Syndrome 1	Flexion contracture of toe, Femoral bowing, Short long bone, Clubbing, Tibial bowing, Death in in...	OMIM:601559
Renal-Hepatic-Pancreatic Dysplasia 2	Abnormal lung lobation, Situs inversus totalis, Stillbirth, Hepatomegaly, Truncus arteriosus, Cho...	OMIM:615415
3M Syndrome	Rocker bottom foot, Enlarged thorax, Hyperlordosis, Everted lower lip vermilion, Kyphosis, Hypopl...	ORPHA:2616
Double Outlet Right Ventricle	Narrow palpebral fissure, Cyanosis, Hypoparathyroidism, Truncus arteriosus, Pulmonary artery atre...	ORPHA:3426
Andersen Cardiodysrhythmic Periodic Paralysis	Short mandibular rami, Clinodactyly of the 5th toe, Dental crowding, Short metacarpal, Prominent ...	OMIM:170390
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
Intellectual Developmental Disorder, X-Linked, Syndromic, Claes-Jensen Type	Pectus excavatum, Short distal phalanx of finger, Talipes calcaneovarus, Furrowed tongue, Large h...	OMIM:300534
Vacterl/Vater Association	Congenital diaphragmatic hernia, Abnormality of the gallbladder, Abnormal intervertebral disk mor...	ORPHA:887
Tetrasomy 5P	Clinodactyly of the 5th finger, Short hallux, Respiratory distress, Wide anterior fontanel, Peric...	ORPHA:3309
Noonan Syndrome 13	Highly arched eyebrow, Enlarged thorax, Microdontia, Wide mouth, Bruising susceptibility, Mitral ...	OMIM:619087
Miller-Dieker Syndrome	Sacral dimple, Clinodactyly of the 5th finger, Omphalocele, Epicanthus, Abnormal upper lip morpho...	ORPHA:531
Dysostosis, Stanescu Type	Hyperlordosis, Pectus excavatum, Kyphosis, Tooth agenesis, Persistent open anterior fontanelle, M...	ORPHA:1798
Microphthalmia With Limb Anomalies	Retrognathia, Sandal gap, Tibial bowing, 4-5 metacarpal synostosis, Hip dislocation, Interrupted ...	OMIM:206920
Short Stature And Facioauriculothoracic Malformations	Abnormal odontoid process morphology, Pectus carinatum, High palate, Pectus excavatum, Ptosis, Cl...	OMIM:609654
Teebi Hypertelorism Syndrome 1	Bilateral ptosis, Long philtrum, Highly arched eyebrow, Aortic root aneurysm, Dental crowding, Up...	OMIM:145420
Mosaic Trisomy 14	Bilateral single transverse palmar creases, Narrow chest, Ectopic anus, High palate, Abnormal rib...	ORPHA:1703
Diastrophic Dysplasia	Proximal placement of thumb, Abnormal form of the vertebral bodies, Kyphosis, Joint stiffness, Sy...	ORPHA:628
Trisomy 1Q	Congenital diaphragmatic hernia, Long foot, Short thorax, Narrow mouth, Anal atresia, Abnormal ri...	ORPHA:261344
Multicentric Osteolysis, Nodulosis, And Arthropathy	Kyphoscoliosis, Ankylosis of feet small joints, Thin metacarpal cortices, Wrist flexion contractu...	OMIM:259600
Periventricular Nodular Heterotopia	Gastroesophageal reflux, Aortic aneurysm, Abnormal heart valve morphology, Shoulder dislocation, ...	ORPHA:98892
Geroderma Osteodysplasticum	Kyphoscoliosis, Femoral bowing, Tibial bowing, Biconcave vertebral bodies, Wormian bones, Abnorma...	OMIM:231070
Temtamy Preaxial Brachydactyly Syndrome	Synostosis of carpals/tarsals, Radial deviation of finger, Clinodactyly of the 2nd finger, Microd...	ORPHA:363417
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 10	Cerebellar dysplasia, Type II lissencephaly, Neural tube defect	OMIM:615041
Spondylodysplastic Ehlers-Danlos Syndrome	Kyphoscoliosis, Subluxation of the small joints of the hand, Abnormal femoral head morphology, Ab...	ORPHA:536471
Thanatophoric Dysplasia	Abnormal metaphysis morphology, Platyspondyly, Abnormal ilium morphology, Patent ductus arteriosu...	ORPHA:2655
Cardioacrofacial Dysplasia 1	Atrioventricular canal defect, Genu valgum, Short philtrum, Conical tooth, Postaxial polydactyly,...	OMIM:619142
Femoral-Facial Syndrome	Long philtrum, Abnormal sacrum morphology, Abnormal fibula morphology, Inguinal hernia, Scoliosis...	ORPHA:1988
Keipert Syndrome	Broad distal phalanx of finger, Clinodactyly of the 5th finger, Short hallux, Exaggerated cupid's...	ORPHA:2662
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome	Kyphoscoliosis, Multiple joint dislocation, Repeated pneumothoraces, Pectus carinatum, Pectus exc...	ORPHA:536467
Lowry-Maclean Syndrome	Congenital diaphragmatic hernia, Retrognathia, Craniosynostosis, Delayed eruption of primary teet...	ORPHA:2409
Postaxial Acrofacial Dysostosis	Ectropion, Pectus excavatum, Syndactyly, Hypoplasia of the ulna, Hypoplasia of the radius, Conica...	OMIM:263750
Focal Dermal Hypoplasia	Congenital diaphragmatic hernia, Abnormality of the pulmonary vasculature, Short ribs, Hypoplasti...	ORPHA:2092
Endosteal Hyperostosis, Worth Type	Diaphyseal undertubulation, Clavicular sclerosis, Sclerotic vertebral body, Abnormal cortical bon...	ORPHA:2790
Chromosome 13Q33-Q34 Deletion Syndrome	Pulmonic stenosis, Left ventricular hypertrophy, Overlapping toe, Advanced eruption of teeth, Sho...	OMIM:619148
Cornelia De Lange Syndrome 1	Congenital diaphragmatic hernia, Proximal placement of thumb, Dislocated radial head, Highly arch...	OMIM:122470
Short-Rib Thoracic Dysplasia 20 With Polydactyly	Narrow greater sciatic notch, Short ribs, Short long bone, Esophageal diverticulum, Fibular hypop...	OMIM:617925
Congenital Vertical Talus	Rocker bottom foot, Abnormality of the foot musculature, Lower extremity joint dislocation, Equin...	ORPHA:178382
Weill-Marchesani Syndrome 1	Narrow palate, Broad phalanges of the hand, Patent ductus arteriosus, Tooth malposition, Scoliosi...	OMIM:277600
Intellectual Developmental Disorder, X-Linked, Syndromic, Lujan-Fryns Type	Short philtrum, Hyperextensibility of the finger joints, Ascending tubular aorta aneurysm, Dental...	OMIM:309520
Trisomy 13	Bilateral single transverse palmar creases, Kyphosis, Long philtrum, Hernia, Scoliosis, Postaxial...	ORPHA:3378
Meckel Syndrome, Type 1	Radial deviation of finger, Intestinal malrotation, Wide mouth, Splenomegaly, Syndactyly, Clinoda...	OMIM:249000
8Q22.1 Microdeletion Syndrome	Sandal gap, Telecanthus, Finger syndactyly, Highly arched eyebrow, Limitation of joint mobility, ...	ORPHA:178303
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly	Disproportionate shortening of the tibia, Pectus carinatum, Short ribs, Short long bone, Intestin...	OMIM:263520
Spondylometaphyseal Dysplasia, Kozlowski Type	Short tubular bones of the hand, Short greater sciatic notch, Pectus carinatum, Flat acetabular r...	ORPHA:93314
Koolen-De Vries Syndrome	Spondylolisthesis, Prominent fingertip pads, Everted lower lip vermilion, Pectus excavatum, Kypho...	OMIM:610443
Marfan Syndrome	Kyphoscoliosis, Retrognathia, Narrow foot, Spondylolisthesis, Dental crowding, Pectus carinatum, ...	OMIM:154700
Hypoglossia With Situs Inversus	Situs inversus totalis, Respiratory distress, High palate, Narrow mouth, Asplenia, Micrognathia, ...	OMIM:612776
Bartsocas-Papas Syndrome 1	Ectropion, Hypoplastic iliac wing, Oligodactyly, Short metacarpal, Ablepharon, Inferiorly positio...	OMIM:263650
Nager Syndrome	Hypoplasia of the radius, Abnormal palate morphology, Triphalangeal thumb, Aplasia/Hypoplasia of ...	ORPHA:245
Opitz-Kaveggia Syndrome	Radial deviation of finger, Dental crowding, Prominent fingertip pads, Intestinal malrotation, Br...	OMIM:305450
Microgastria-Limb Reduction Defect Syndrome	Abnormal finger morphology, Oligodactyly, Tracheoesophageal fistula, Intestinal malrotation, Apla...	ORPHA:2538
Congenital Alveolar Capillary Dysplasia	Bicuspid aortic valve, Annular pancreas, Pulmonary valve atresia, Atrioventricular canal defect, ...	ORPHA:210122
Spondyloepiphyseal Dysplasia-Craniosynostosis-Cleft Palate-Cataracts-Intellectual Disability Syndrome	Abnormality of cranial sutures, Microphthalmia, Abnormal bone ossification, Flat acetabular roof,...	ORPHA:163649
Paget Disease Of Bone 5, Juvenile-Onset	Osteopenia, Barrel-shaped chest, Increased bone mineral density, Premature loss of teeth, Bowing ...	OMIM:239000
Spondylometaphyseal Dysplasia, Type A4	Narrow greater sciatic notch, Sclerotic humeral metaphysis, Costochondral joint sclerosis, Enlarg...	OMIM:609052
Pycr2-Related Microcephaly-Progressive Leukoencephalopathy	Long philtrum, Thin vermilion border, Broad eyebrow, Pectus carinatum, Thoracic kyphoscoliosis, H...	ORPHA:481152
Intellectual Disability-Obesity-Prognathism-Eye And Skin Anomalies Syndrome	Telecanthus, Mandibular prognathia, Cone-shaped epiphyses of the 3rd toe, Hypoplasia of the maxil...	ORPHA:397973
Congenital Heart Defects, Multiple Types, 8, With Or Without Heterotaxy	Bilateral single transverse palmar creases, Partial anomalous pulmonary venous return, Solitary m...	OMIM:619657
Costello Syndrome	Limited elbow movement, Deep plantar creases, Pectus carinatum, Pulmonic stenosis, Mitral valve p...	OMIM:218040
Jackson-Weiss Syndrome	Abnormal fibula morphology, Abnormal palate morphology, Short metatarsal, 2-3 toe syndactyly, Man...	ORPHA:1540
Koolen-De Vries Syndrome	Everted lower lip vermilion, Microdontia, Pectus excavatum, Kyphosis, Arachnodactyly, Bicuspid ao...	ORPHA:96169
Arterial Tortuosity Syndrome	Rocker bottom foot, Abnormal carotid artery morphology, Arachnodactyly, Joint hypermobility, Cran...	ORPHA:3342
Diaphragmatic Defects, Limb Deficiencies, And Ossification Defects Of Skull	Congenital diaphragmatic hernia, Clinodactyly of the 5th finger, Decreased skull ossification, Om...	OMIM:601163
Fetal Valproate Spectrum Disorder	Thin vermilion border, Narrow mouth, Omphalocele, Downturned corners of mouth, Epicanthus, Long p...	ORPHA:1906
Melnick-Needles Syndrome	Kyphoscoliosis, Cone-shaped epiphyses of the phalanges of the hand, Tibial bowing, Pectus excavat...	OMIM:309350
Multicentric Carpotarsal Osteolysis Syndrome	Osteopenia, Metacarpal osteolysis, Wrist swelling, Ankle swelling, Pes cavus, Carpal osteolysis, ...	OMIM:166300
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Microdeletion	Retrognathia, Wrist flexion contracture, Pectus excavatum, Flexion contracture of finger, Thoraci...	ORPHA:254528
Lethal Congenital Contracture Syndrome Type 1	Abnormal cortical bone morphology, Abnormal hip bone morphology, Slender long bone, Abnormal form...	ORPHA:1486
Mucolipidosis Type Iii	Abnormal aortic valve morphology, Reduced bone mineral density, Abnormal hip bone morphology, Ing...	ORPHA:577
Metatropic Dysplasia	Narrow greater sciatic notch, Kyphoscoliosis, Relatively short spine, Short ribs, Long coccyx, Cu...	OMIM:156530
Ankyloblepharon Filiforme Adnatum-Imperforate Anus Syndrome	Non-midline cleft of the upper lip, Cleft palate, Ankyloblepharon, Tooth agenesis	ORPHA:1074
Osteogenesis Imperfecta, Type Xiii	Kyphoscoliosis, Reduced bone mineral density, Limitation of knee mobility, Dislocated radial head...	OMIM:614856
Whistling Face Syndrome, Recessive Form	Kyphoscoliosis, Long philtrum, Inguinal hernia, Elbow flexion contracture, Whistling appearance, ...	OMIM:277720
Split-Hand/Foot Malformation 3	High palate, Split hand, Camptodactyly, Narrow mouth, Hypoplasia of the maxilla, Cleft palate, Mi...	OMIM:246560
Jacobsen Syndrome	Ectropion, Abnormal form of the vertebral bodies, Death in infancy, Aortic valve stenosis, Bone m...	ORPHA:2308
Esophageal Atresia	Anorectal anomaly, Bronchitis, Tracheoesophageal fistula, Intestinal malrotation, Dysphagia, Epis...	ORPHA:1199
Tonne-Kalscheuer Syndrome	Congenital diaphragmatic hernia, Widely spaced teeth, Narrow mouth, Broad thumb, Decreased testic...	OMIM:300978
Thanatophoric Dysplasia, Type I	Platyspondyly, Narrow chest, Short greater sciatic notch, Flared metaphysis, Wide-cupped costocho...	OMIM:187600
Microcephaly-Micromelia Syndrome	Short palpebral fissure, Narrow chest, Oligodactyly, Narrow mouth, Missing ribs, Forearm undergro...	OMIM:251230
8P23.1 Microdeletion Syndrome	Congenital diaphragmatic hernia, Proximal placement of thumb, Enlarged thorax, Broad thumb, Abnor...	ORPHA:251071
Holzgreve Syndrome	Cleft upper lip, Hand polydactyly, Cleft palate, Hypoplastic left heart	OMIM:236110
Right Atrial Isomerism	Situs inversus totalis, Transposition of the great arteries, Dextrocardia, Inguinal hernia, Pulmo...	OMIM:208530
Short Stature, Amelogenesis Imperfecta, And Skeletal Dysplasia With Scoliosis	Kyphoscoliosis, Short long bone, Hyperlordosis, Tooth agenesis, Flattened epiphysis, Thoracic hyp...	OMIM:618363
Omphalocele-Cleft Palate Syndrome, Lethal	Death in infancy, Bifid uvula, Cleft palate, Omphalocele	OMIM:258320
Kdm5C-Related Syndromic X-Linked Intellectual Disability	High palate, Tapered finger, Hypoplasia of the maxilla, Camptodactyly of finger, Short palm, Decr...	ORPHA:85279
Microphthalmia, Syndromic 8	Orofacial cleft, Short palpebral fissure, Microphthalmia, Split foot, Cleft upper lip, Cleft pala...	OMIM:601349
14Q11.2 Microdeletion Syndrome	Highly arched eyebrow, Exaggerated cupid's bow, High palate, Everted lower lip vermilion, Narrow ...	ORPHA:261120
Achondroplasia	Narrow greater sciatic notch, Short ribs, Femoral bowing, Trident hand, Death in infancy, Thoraci...	OMIM:100800
Simpson-Golabi-Behmel Syndrome	Congenital diaphragmatic hernia, Cardiomyopathy, Pectus excavatum, Death in infancy, Broad thumb,...	ORPHA:373
Congenital Hemidysplasia With Ichthyosiform Erythroderma And Limb Defects	Absent toe, Short ribs, Thyroid hypoplasia, Hypoplastic pelvis, Syndactyly, Umbilical hernia, Abn...	OMIM:308050
Acrofacial Dysostosis 1, Nager Type	Congenital diaphragmatic hernia, Retrognathia, Radial deviation of finger, Temporomandibular join...	OMIM:154400
Myhre Syndrome	Radial deviation of finger, Hypoplastic iliac wing, Short long bone, Joint stiffness, Aortic valv...	OMIM:139210
Premature Aging Syndrome, Penttinen Type	Lipoatrophy, Retrognathia, Tibial bowing, Shallow orbits, Flexion contracture of finger, Cervical...	OMIM:601812
Agenesis Of The Corpus Callosum With Peripheral Neuropathy	2-3 toe syndactyly, Scoliosis, High palate, Hypoplasia of the maxilla, Ptosis, Long fingers, Resp...	OMIM:218000
Ankyloblepharon Filiforme Adnatum And Cleft Palate	Cleft upper lip, Cleft palate, Ankyloblepharon	OMIM:106250
Severe X-Linked Intellectual Disability, Gustavson Type	Rocker bottom foot, Equinovarus deformity, Triphalangeal thumb, Ventricular septal defect, Calcan...	ORPHA:3078
Rubinstein-Taybi Syndrome 1	Retrognathia, Broad distal phalanx of finger, Dislocated radial head, Hypoplastic iliac wing, Hig...	OMIM:180849
Catel-Manzke Syndrome	Pectus carinatum, Glossoptosis, Short metacarpal, Pectus excavatum, Ulnar deviation of the 2nd fi...	OMIM:616145
Lethal Congenital Contracture Syndrome 11	Retrognathia, Elbow flexion contracture, Camptodactyly, Bilateral talipes equinovarus, Flexion co...	OMIM:617194
Pseudotrisomy 13 Syndrome	Tricuspid atresia, Dextrocardia, 11 pairs of ribs, 2-3 toe syndactyly, Hemivertebrae, Postaxial h...	OMIM:264480
Robinow Syndrome, Autosomal Recessive 2	Long philtrum, Ventral hernia, Cleft soft palate, Sandal gap, Triangular mouth, Gingival overgrow...	OMIM:618529
Recombinant Chromosome 8 Syndrome	Thick lower lip vermilion, Clinodactyly of the 5th finger, Gingival overgrowth, Scoliosis, Abnorm...	OMIM:179613
Craniofacial-Deafness-Hand Syndrome	Abnormality of the wrist, Lacrimal duct atresia, Narrow mouth, Hypoplasia of the maxilla, Camptod...	ORPHA:1529
Congenital Heart Defects And Skeletal Malformations Syndrome	Congenital diaphragmatic hernia, Sandal gap, Repeated pneumothoraces, Dental crowding, Pectus exc...	OMIM:617602
Chromosome 18Q Deletion Syndrome	Rocker bottom foot, Proximal placement of thumb, Aortic valve stenosis, Bifid uvula, Umbilical he...	OMIM:601808
Weill-Marchesani Syndrome 2	Flexion contracture of toe, Short metacarpal, Broad metatarsal, Shallow orbits, Joint stiffness, ...	OMIM:608328
Burn-Mckeown Syndrome	Short palpebral fissure, Thin vermilion border, Short philtrum, Inguinal hernia, 2-3 toe syndacty...	OMIM:608572
Mueller-Weiss Syndrome	Equinovarus deformity, Fragmented, irregular epiphyses, Talipes calcaneovarus, Joint subluxation,...	ORPHA:566943
Arthrogryposis, Distal, Type 11	Rocker bottom foot, Calcaneovalgus deformity, Camptodactyly, Metatarsus adductus, Limited pronati...	OMIM:620019
2Q24 Microdeletion Syndrome	Microphthalmia, Short philtrum, Abnormal oral frenulum morphology, Bullet-shaped distal phalanx o...	ORPHA:1617
Cervical Ribs, Sprengel Anomaly, Anal Atresia, And Urethral Obstruction	Anal atresia, Omphalocele, Thoracolumbar scoliosis, Sprengel anomaly, Cervical ribs, Preaxial han...	OMIM:601389
Constricting Bands, Congenital	Abnormal lung lobation, Ectopia cordis, Tessier cleft, Gastroschisis, Scoliosis, Omphalocele, Cle...	OMIM:217100
Primary Pulmonary Hypoplasia	Pneumothorax, Cyanosis, Patellar hypoplasia, Dextrocardia, Recurrent respiratory infections, Hypo...	ORPHA:2257
Gordon Syndrome	Clinodactyly of the 5th finger, Talipes, Finger syndactyly, Scoliosis, High palate, Limitation of...	ORPHA:376
Otopalatodigital Syndrome, Type Ii	Rocker bottom foot, Kyphoscoliosis, Spondylolysis, Short ribs, Femoral bowing, Tibial bowing, Sho...	OMIM:304120
22Q11.2 Deletion Syndrome	Gastrointestinal hemorrhage, Abnormal aortic arch morphology, Anorectal anomaly, Multiple suture ...	ORPHA:567
Microbrachycephaly-Ptosis-Cleft Lip Syndrome	Bilateral single transverse palmar creases, Abnormal thumb morphology, Abnormality of the wrist, ...	ORPHA:2511
Intellectual Developmental Disorder, Autosomal Recessive 73	Osteopenia, Widely spaced teeth, Clinodactyly of the 5th finger, Single transverse palmar crease,...	OMIM:619717
Cryptorchidism-Arachnodactyly-Intellectual Disability Syndrome	Bilateral single transverse palmar creases, Pectus carinatum, Scoliosis, Abnormality of the denti...	ORPHA:1548
Familial Median Cleft Of The Upper And Lower Lips	Fusion of gums, Irregular dentition, Cleft upper lip, Cleft lower lip, Diastema, Median cleft upp...	ORPHA:401942
Achondrogenesis Type 1A	Narrow chest, Short thorax, Recurrent fractures, Short foot, Abnormal enchondral ossification, Mi...	ORPHA:93299
Proximal 16P11.2 Microdeletion Syndrome	Congenital diaphragmatic hernia, Abnormal aortic valve morphology, Abnormal vertebral morphology,...	ORPHA:261197
Achondrogenesis Type 1B	Narrow chest, Short thorax, Aplasia/Hypoplasia of the lungs, Abnormal rib morphology, Micromelia,...	ORPHA:93298
Blomstrand Lethal Chondrodysplasia	Broad clavicles, Short ribs, Short metacarpal, Mesomelia, Long philtrum, Abnormal epiphysis morph...	ORPHA:50945
Klippel-Feil Syndrome 2, Autosomal Recessive	Fused cervical vertebrae, Cervical C2/C3 vertebral fusion, Scoliosis, Cleft upper lip, Cleft pala...	OMIM:214300
Ritscher-Schinzel Syndrome 1	Hemivertebrae, Missing ribs, Anal atresia, Pulmonic stenosis, Aortic valve stenosis, Downslanted ...	OMIM:220210
Congenital Myopathy 17	Pectus excavatum, Long philtrum, Overlapping toe, Clinodactyly, Downslanted palpebral fissures, C...	OMIM:618975
Oculomaxillofacial Dysostosis	Tessier cleft, Sparse or absent eyelashes, Abnormal eyelid morphology, Abnormal eyelash morpholog...	ORPHA:1794
Temple Syndrome Due To Maternal Uniparental Disomy Of Chromosome 14	Short philtrum, Scoliosis, High palate, Short foot, Narrow mouth, Pyloric stenosis, Micrognathia,...	ORPHA:96184
Auricular Abnormalities-Cleft Lip With Or Without Cleft Palate-Ocular Abnormalities Syndrome	Orofacial cleft, Pectus excavatum, Kyphosis, Intestinal malrotation, Incomplete cleft of the uppe...	ORPHA:77300
Microcephaly, Congenital Heart Disease, Unilateral Renal Agenesis, And Hyposegmented Lungs	Short distal phalanx of finger, Truncus arteriosus, Ventricular septal defect, Cleft palate	OMIM:601355
Apert Syndrome	Limited elbow movement, Pectus carinatum, Shallow orbits, Broad thumb, Bifid uvula, Syndactyly, C...	OMIM:101200
Otopalatodigital Syndrome Type 1	Proximal placement of thumb, Sandal gap, Abnormal metacarpal morphology, Increased bone mineral d...	ORPHA:90650
Recombinant 8 Syndrome	Bilateral single transverse palmar creases, Deep plantar creases, Abnormal sternum morphology, Pe...	ORPHA:96167
Zechi-Ceide Syndrome	Short palpebral fissure, Long foot, Short metatarsal, Sandal gap, Oligodontia, Cleft upper lip, C...	OMIM:612916
Pseudoachondroplasia	Abnormal form of the vertebral bodies, Short long bone, Flat acetabular roof, Increased laxity of...	ORPHA:750
Acalvaria	Abnormal lung lobation, Talipes, Postaxial hand polydactyly, Omphalocele, Cleft palate	ORPHA:945
Smith-Lemli-Opitz Syndrome	Congenital diaphragmatic hernia, Abnormality of the gallbladder, Proximal placement of thumb, Abn...	ORPHA:818
Orofaciodigital Syndrome Xvii	Polydactyly, High, narrow palate, Clubbing of fingers, Central Y-shaped metacarpal, Prominent met...	OMIM:617926
Distal Limb Deficiencies-Micrognathia Syndrome	Tarsal synostosis, Abnormality of the wrist, Abnormal metacarpal morphology, Aplasia/Hypoplasia o...	ORPHA:1307
Eng-Strom Syndrome	Arthritis, Scoliosis, Pectus excavatum, Camptodactyly of finger, Brachydactyly, Ventricular septa...	ORPHA:1937
Arthrogryposis, Distal, Type 3	Kyphoscoliosis, Pectus excavatum, Bifid uvula, Overlapping toe, Scoliosis, Ulnar deviation of the...	OMIM:114300
Arthrogryposis, Perthes Disease, And Upward Gaze Palsy	Ventricular septal defect, Camptodactyly, Pulmonic stenosis, Pyloric stenosis, Overlapping toe, A...	OMIM:614262
Nemaline Myopathy 9	Narrow chest, Scoliosis, High palate, Ventricular septal defect, Micrognathia, Cleft palate, Arth...	OMIM:615731
Czeizel-Losonci Syndrome	Dextrocardia, Spina bifida occulta, Hitchhiker thumb, Single transverse palmar crease, Hypoplasti...	ORPHA:2437
Branchioskeletogenital Syndrome	Highly arched eyebrow, Upper limb peromelia, Pectus excavatum, Bifid uvula, Blepharochalasis, Umb...	ORPHA:1299
Holt-Oram Syndrome	Pectus excavatum, Kyphosis, Joint stiffness, Broad thumb, Absent thumb, Abnormal clavicle morphol...	ORPHA:392
Codas Syndrome	Proximal placement of thumb, Delayed ossification of carpal bones, Short metacarpal, Short humeru...	OMIM:600373
Mucopolysaccharidosis, Type Iva	Pectus carinatum, Hyperlordosis, Kyphosis, Constricted iliac wing, Large elbow, Wide mouth, Joint...	OMIM:253000
Ehlers-Danlos Syndrome, Classic Type, 1	Bowel diverticulosis, Pectus excavatum, Cigarette-paper scars, Recurrent sinusitis, Mitral valve ...	OMIM:130000
Acrorenal-Mandibular Syndrome	Kyphoscoliosis, Congenital diaphragmatic hernia, Split foot, Hip dislocation, Narrow palate, Hypo...	OMIM:200980
Phenobarbital Embryopathy	Aplasia/Hypoplasia of fingers, Abnormal mitral valve morphology, Unilateral cleft lip, Tetralogy ...	ORPHA:1919
Cleidocranial Dysplasia 2	Osteopenia, Supernumerary tooth, Genu valgum, Delayed pubic bone ossification, Short clavicles, D...	OMIM:620099
Mucopolysaccharidosis Type 1	Abnormal hip bone morphology, Abnormal form of the vertebral bodies, Enlarged thorax, Everted low...	ORPHA:579
Trisomy 18P	Thin vermilion border, High, narrow palate, Abnormal foot morphology, Telecanthus, Highly arched ...	ORPHA:1715
Neu-Laxova Syndrome 1	Rocker bottom foot, Radial deviation of finger, Swollen lip, Ablepharon, Clinodactyly, Transposit...	OMIM:256520
Congenital Arthrogryposis With Anterior Horn Cell Disease	Rocker bottom foot, Retrognathia, Single transverse palmar crease, Scoliosis, High palate, Arefle...	OMIM:611890
Diamond-Blackfan Anemia 6	Retrognathia, Triphalangeal thumb, Patent ductus arteriosus, Macrocytic anemia, Tracheomalacia, I...	OMIM:612561
Silver-Russell Syndrome	Thin vermilion border, Clinodactyly of the 5th finger, Sandal gap, Gastroesophageal reflux, Abnor...	ORPHA:813
Distal Triplication 15Q	Retrognathia, Telecanthus, Hypoplastic aortic arch, Abnormal sternum morphology, Scoliosis, High ...	ORPHA:314588
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome	Retrognathia, Biliary hyperplasia, Arachnodactyly, Contracture of the distal interphalangeal join...	ORPHA:83617
Lung Agenesis-Heart Defect-Thumb Anomalies Syndrome	Bilateral single transverse palmar creases, Congenital diaphragmatic hernia, Proximal placement o...	ORPHA:1120
Wolf-Hirschhorn Syndrome	Congenital diaphragmatic hernia, Abnormality of the gallbladder, Hypoplastic pubic ramus, Abnorma...	ORPHA:280
Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb	Highly arched eyebrow, Prominent fingertip pads, Pectus excavatum, Microdontia, Broad thumb, Bifi...	OMIM:612474
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5	Cerebellar cyst, Death in childhood, Lissencephaly, Hydrocephalus, Dandy-Walker malformation, Typ...	OMIM:613153
Isolated Klippel-Feil Syndrome	Abnormal shoulder morphology, Cervical C2/C3 vertebral fusion, Abnormality of the vertebral colum...	ORPHA:2345
Microphthalmia, Syndromic 9	Congenital diaphragmatic hernia, Multilobulated spleen, Right aortic arch with mirror image branc...	OMIM:601186
Conotruncal Heart Malformations	Transposition of the great arteries, Truncus arteriosus, Postaxial polydactyly, Coarctation of ao...	OMIM:217095
Neuropathy, Congenital, With Arthrogryposis Multiplex	Hyperlordosis, Areflexia of lower limbs, Calcaneovalgus deformity, Hyporeflexia of lower limbs, A...	OMIM:162370
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia	Rhizomelia, 11 pairs of ribs, Metaphyseal cupping, Hypoplastic iliac wing, Thin ribs, Hypoplasia ...	OMIM:300863
Keratoconus Posticus Circumscriptus	Clinodactyly of the 5th finger, Limited elbow extension and supination, Cleft upper lip, Cleft pa...	OMIM:244600
X-Linked Intellectual Disability-Dysmorphism-Cerebral Atrophy Syndrome	Retrognathia, Inguinal hernia, Abnormal number of incisors, Osteoporosis, Bilateral talipes equin...	ORPHA:2958
Zttk Syndrome	Kyphosis, Bifid uvula, Cervical ribs, Joint hypermobility, Craniosynostosis, Short philtrum, Scol...	OMIM:617140
Pierpont Syndrome	Abnormal subcutaneous fat tissue distribution, Thin vermilion border, Short finger, Widely spaced...	ORPHA:487825
Cutis Laxa, Autosomal Recessive, Type Ic	Retrognathia, Sandal gap, Morgagni diaphragmatic hernia, Death in infancy, Umbilical hernia, Long...	OMIM:613177
Dyssegmental Dysplasia, Silverman-Handmaker Type	Pterygium, Short long bone, Narrow mouth, Bowing of the long bones, Anisospondyly, Micromelia, Mi...	OMIM:224410
Thomas Syndrome	Cleft upper lip, Downslanted palpebral fissures, Cleft palate, Hypoplastic left heart	ORPHA:3316
Frontometaphyseal Dysplasia 2	Dislocated radial head, Short metacarpal, Pectus excavatum, Pulmonic stenosis, Broad thumb, Bifid...	OMIM:617137
Juberg-Hayward Syndrome	Hypoplasia of the radius, Orofacial cleft, Abnormality of the wrist, Abnormal vertebral morpholog...	ORPHA:2319
Basal Cell Nevus Syndrome 1	Kyphoscoliosis, Cardiac rhabdomyoma, Hamartomatous stomach polyps, Abnormal sternum morphology, S...	OMIM:109400
Fetal Encasement Syndrome	Congenital diaphragmatic hernia, Upper limb undergrowth, Omphalocele, Tetralogy of Fallot, Lower ...	OMIM:613630
Distal Xq28 Microduplication Syndrome	Thick lower lip vermilion, Patent ductus arteriosus, Dental crowding, Patent foramen ovale, Short...	ORPHA:293939
Imperforate Oropharynx-Costovertebral Anomalies Syndrome	Clinodactyly of the 5th finger, Recurrent respiratory infections, Respiratory distress, Abnormal ...	ORPHA:2759
Jacobsen Syndrome	Pectus excavatum, Nasolacrimal duct obstruction, U-Shaped upper lip vermilion, Clinodactyly of th...	OMIM:147791
Frank-Ter Haar Syndrome	Kyphoscoliosis, Broad alveolar ridges, Short long bone, Kyphosis, Wide mouth, Mitral valve prolap...	OMIM:249420
Prune Belly Syndrome	Aplasia of the abdominal wall musculature, Intestinal atresia, Recurrent respiratory infections, ...	ORPHA:2970
Renal-Hepatic-Pancreatic Dysplasia 1	Hyperechogenic pancreas, Cholestasis, Biliary cirrhosis, Aortic valve stenosis, Intestinal malrot...	OMIM:208540
Jeune Syndrome	Abnormal metaphysis morphology, Abnormal clavicle morphology, Narrow chest, Short thorax, Abnorma...	ORPHA:474
Split hand/foot malformation 1 (SHFM1)	2-3 toe syndactyly, Split hand, Split foot, Cutaneous finger syndactyly, Cleft palate, Lacrimal d...	DECIPHER:46
Autosomal Recessive Distal Osteolysis Syndrome	Short distal phalanx of finger, Abnormality of the dentition, Osteolysis, Hypoplasia of the maxilla	ORPHA:2776
2Q37 Microdeletion Syndrome	Bilateral single transverse palmar creases, Congenital diaphragmatic hernia, Highly arched eyebro...	ORPHA:1001
Genitopalatocardiac Syndrome	Transposition of the great arteries, Right aortic arch, Cleft upper lip, Cleft palate, Double out...	OMIM:231060
Ellis-Van Creveld Syndrome	Hypoplastic iliac wing, Pectus carinatum, Short ribs, Short long bone, Cone-shaped epiphyses of p...	OMIM:225500
Perlman Syndrome	Bilateral single transverse palmar creases, Retrognathia, High, narrow palate, Hepatomegaly, Abno...	ORPHA:2849
Nablus Mask-Like Facial Syndrome	Retrognathia, Sandal gap, Highly arched eyebrow, Everted lower lip vermilion, Long philtrum, Cran...	OMIM:608156
Isolated Osteopoikilosis	Sclerotic foci within carpal bones, Abnormal femur morphology, Tarsal sclerosis, Abnormal long bo...	ORPHA:166119
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly	Cone-shaped epiphyses of the phalanges of the hand, Hypoplastic iliac wing, Short ribs, Polycysti...	OMIM:208500
Bohring-Opitz Syndrome	Retrognathia, Deep plantar creases, Hyperechogenic pancreas, Dislocated radial head, Bilateral cl...	OMIM:605039
Ulnar-Mammary Syndrome	Aplasia of the pectoralis major muscle, Pectus carinatum, Abnormal finger morphology, Short dista...	ORPHA:3138
Craniolenticulosutural Dysplasia	Long philtrum, Thin vermilion border, Narrow chest, Delayed eruption of teeth, Premature loss of ...	ORPHA:50814
Peroxisome Biogenesis Disorder 1A (Zellweger)	Rocker bottom foot, Prolonged neonatal jaundice, Dysphagia, Ulnar deviation of the hand or of fin...	OMIM:214100
Cleft-Limb-Heart Malformation Syndrome	Truncus arteriosus, Syndactyly	OMIM:215850
Microcephaly-Capillary Malformation Syndrome	Patent foramen ovale, Hypoplasia of the maxilla, Ptosis, Cleft palate, Right ventricular hypertro...	OMIM:614261
Scimitar Syndrome	Bronchogenic cyst, Pulmonary sequestration, Mitral atresia, Abnormal heart morphology, Hernia, In...	ORPHA:185
Oculofaciocardiodental Syndrome	Microphthalmia, Solitary median maxillary central incisor, Highly arched eyebrow, Flexion contrac...	ORPHA:2712
Juberg-Hayward Syndrome	Limited elbow extension, Abnormal carpal morphology, Decreased response to growth hormone stimula...	OMIM:216100
Cutis Laxa, Autosomal Recessive, Type Iie	Long philtrum, Thick lower lip vermilion, Clinodactyly of the 5th finger, Deep palmar crease, Ing...	OMIM:619451
Hartsfield Syndrome	Microphthalmia, Telecanthus, Non-midline cleft of the upper lip, Split hand, Ptosis, Downslanted ...	ORPHA:2117
Raine Syndrome	Subperiosteal bone formation, Highly arched eyebrow, Pectus excavatum, Microdontia, Death in infa...	OMIM:259775
Spondyloepimetaphyseal Dysplasia, Strudwick Type	Narrow greater sciatic notch, Genu valgum, Delayed pubic bone ossification, Metaphyseal dappling,...	OMIM:184250
2P15P16.1 Microdeletion Syndrome	Bilateral single transverse palmar creases, Retrognathia, Sandal gap, Enlarged thorax, Everted lo...	ORPHA:261349
Pallister-Hall Syndrome	Oligodactyly, Shortening of all distal phalanges of the fingers, Mesomelia, Syndactyly, Hip dislo...	OMIM:146510
Distal Monosomy 7Q36	Bilateral single transverse palmar creases, Clinodactyly of the 5th finger, Non-midline cleft of ...	ORPHA:1636
Kyphomelic Dysplasia	Femoral bowing, Flat acetabular roof, Tibial bowing, Short metacarpal, Short humerus, Thoracic hy...	OMIM:211350
Crouzon Syndrome-Acanthosis Nigricans Syndrome	Abnormal palate morphology, Abnormal metacarpal morphology, Abnormal form of the vertebral bodies...	ORPHA:93262
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type	Short ribs, Short long bone, Flat acetabular roof, Hypoplastic ischia, Iliac crest serration, Dea...	OMIM:613320
Richieri-Costa/Guion-Almeida Syndrome	Spina bifida occulta, Mandibular prognathia, Pectus excavatum, Abnormal digit morphology, Ptosis,...	OMIM:268850
Developmental And Epileptic Encephalopathy 89	Long philtrum, Death in childhood, Narrow chest, Highly arched eyebrow, Scoliosis, Omphalocele, D...	OMIM:619124
Dental Anomalies And Short Stature	Amelogenesis imperfecta, Widely spaced teeth, Intervertebral space narrowing, Mandibular prognath...	OMIM:601216
Intellectual Disability-Hypotonia-Brachycephaly-Pyloric Stenosis-Cryptorchidism Syndrome	High palate, Pectus excavatum, Bilateral cryptorchidism, Pyloric stenosis, Downslanted palpebral ...	ORPHA:314575
Mucopolysaccharidosis Type 7	Diaphyseal undertubulation, Anterior beaking of lumbar vertebrae, Arteriovenous malformation, Abn...	ORPHA:584
Alg9-Cdg	Narrow greater sciatic notch, Abnormal bone ossification, Hypoplasia of the ovary, Short long bon...	ORPHA:79328
Autosomal Recessive Robinow Syndrome	Bilateral single transverse palmar creases, Abnormal hip bone morphology, Sandal gap, Pectus cari...	ORPHA:1507
Ehlers-Danlos Syndrome, Classic-Like, 2	Bilateral ptosis, Cervical C2/C3 vertebral fusion, Facet joint arthrosis, Bruising susceptibility...	OMIM:618000
Spondylospinal Thoracic Dysostosis	Multiple pterygia, Short thorax, Hypoplasia of the maxilla, Micrognathia, Pulmonary hypoplasia, A...	OMIM:601809
Vertebral Hypersegmentation And Orofacial Anomalies	Inguinal hernia, Scapular winging, Unilateral cleft palate, Pectus excavatum, Six lumbar vertebra...	OMIM:619122
Axial Spondylometaphyseal Dysplasia	Narrow greater sciatic notch, Hypoplastic iliac wing, Delayed ossification of carpal bones, Short...	ORPHA:168549
Verloove Vanhorick-Brubakk Syndrome	Tarsal synostosis, Abnormal femur morphology, Abnormal metacarpal morphology, Abnormal form of th...	ORPHA:3429
Acrocallosal Syndrome	Everted upper lip vermilion, Pulmonary valve defects, Abnormal oral frenulum morphology, Bifid uv...	OMIM:200990
Orofaciodigital Syndrome Viii	Polydactyly, Telecanthus, High palate, Cleft palate, Recurrent aspiration pneumonia, Syndactyly, ...	OMIM:300484
Intellectual Disability-Polydactyly-Uncombable Hair Syndrome	Aplasia/Hypoplasia of fingers, Abnormal palate morphology, Clinodactyly of the 5th finger, Pectus...	ORPHA:3082
Monosomy 5P	Inguinal hernia, Finger syndactyly, Abnormality of bone mineral density, Scoliosis, High palate, ...	ORPHA:281
Stankiewicz-Isidor Syndrome	Retrognathia, Sacral dimple, 2-3 toe syndactyly, Truncus arteriosus, Cryptorchidism, Micrognathia...	OMIM:617516
Prieto Syndrome	Retrognathia, Radial deviation of finger, 11 pairs of ribs, Talipes equinovarus, Inguinal hernia,...	OMIM:309610
Fallot Complex-Intellectual Disability-Growth Delay Syndrome	Cyanosis, Clubbing of fingers, Single transverse palmar crease, 2-3 toe syndactyly, High palate, ...	ORPHA:3304
Miller-Dieker Lissencephaly Syndrome	Abnormal heart morphology, Recurrent aspiration pneumonia, Polydactyly, Sacral dimple, Deep palma...	OMIM:247200
Lethal Intrauterine Growth Restriction-Cortical Malformation-Congenital Contractures Syndrome	Enlarged thorax, Limitation of joint mobility, Camptodactyly of finger, Micrognathia, Short neck,...	ORPHA:2570
Hypothyroidism, Congenital, Nongoitrous, 6	Anemia, Delayed eruption of teeth, Omphalocele, Congenital hip dislocation, Wormian bones, Macrog...	OMIM:614450
Kyphomelic Dysplasia	Abnormal metaphysis morphology, Lateral clavicle hook, Narrow chest, Abnormal form of the vertebr...	ORPHA:1801
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly	Short ribs, Femoral bowing, Short long bone, Absent tibia, Intestinal malrotation, Thoracic hypop...	OMIM:613091
Cardioacrofacial Dysplasia 2	Atrioventricular canal defect, Clinodactyly of the 5th finger, Genu valgum, Short philtrum, Acces...	OMIM:619143
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 3	Kyphoscoliosis, Dislocated radial head, Short metacarpal, Cigarette-paper scars, Broad femoral ne...	OMIM:612350
Osteogenesis Imperfecta	Intestinal obstruction, Reduced bone mineral density, Abnormal femur morphology, Abnormal hip bon...	ORPHA:666
Vacterl Association, X-Linked, With Or Without Hydrocephalus	Atrioventricular canal defect, Transposition of the great arteries, Esophageal atresia, Dextrocar...	OMIM:314390
Osteoporosis-Pseudoglioma Syndrome	Osteopenia, Kyphoscoliosis, Platyspondyly, Pathologic fracture, Barrel-shaped chest, Vertebral co...	OMIM:259770
Spondyloepimetaphyseal Dysplasia, Irapa Type	Pectus carinatum, Short metacarpal, Hypoplastic pelvis, Abnormal epiphysis morphology, Abnormal c...	ORPHA:93351
Mosaic Trisomy 16	Meckel diverticulum, Abnormal heart morphology, Wide mouth, Syndactyly, Craniofacial asymmetry, C...	ORPHA:1708
Metaphyseal Chondrodysplasia, Schmid Type	Short tubular bones of the hand, Distal femoral metaphyseal irregularity, Femoral bowing, Short l...	ORPHA:174
Restrictive Dermopathy 1	Rocker bottom foot, Kyphoscoliosis, Temporomandibular joint ankylosis, Overtubulated long bones, ...	OMIM:275210
Pericardial And Diaphragmatic Defect	Congenital diaphragmatic hernia, Meckel diverticulum, Abnormal sternum morphology, Abnormal gastr...	ORPHA:2847
Pfeiffer Syndrome	3-4 toe cutaneous syndactyly, Shortening of all middle phalanges of the fingers, Finger syndactyl...	OMIM:101600
Cleidocranial Dysplasia	Glossoptosis, Decreased skull ossification, Sinusitis, Abnormal epiphysis morphology, Abnormal sa...	ORPHA:1452
Infantile Hypotonia-Oculomotor Anomalies-Hyperkinetic Movements-Developmental Delay Syndrome	Gastroesophageal reflux, 2-3 toe syndactyly, Scoliosis, Almond-shaped palpebral fissure, Horizont...	ORPHA:522077
Baraitser-Winter Syndrome 1	Orofacial cleft, Bicuspid aortic valve, Microphthalmia, Highly arched eyebrow, Duplication of pha...	OMIM:243310
Monosomy 18P	Kyphoscoliosis, Short philtrum, Tooth malposition, Enlarged thorax, Pectus excavatum, Carious tee...	ORPHA:1598
Trisomy 8Q	Orofacial cleft, Deep palmar crease, Bone cyst, Non-midline cleft of the upper lip, High palate, ...	ORPHA:1752
Uruguay Faciocardiomusculoskeletal Syndrome	Left atrial enlargement, Limited elbow movement, Retrognathia, Kyphoscoliosis, Ventricular hypert...	OMIM:300280
Oculodentodigital Dysplasia, Autosomal Recessive	2-4 toe cutaneous syndactyly, Hypoplasia of the primary teeth, Dental crowding, Long philtrum, Sp...	OMIM:257850
Weiss-Kruszka Syndrome	Clinodactyly of the 5th finger, Proximal placement of thumb, Highly arched eyebrow, Exaggerated c...	ORPHA:502430
Spondyloepimetaphyseal Dysplasia, X-Linked	Cone-shaped epiphyses of the phalanges of the hand, Pectus carinatum, Delayed ossification of car...	OMIM:300106
Intellectual Developmental Disorder, X-Linked, Syndromic, Siderius Type	Thoracic kyphosis, Synophrys, Cleft lip, Arachnodactyly, Cleft palate, Large hands, Pes planus, L...	OMIM:300263
Mandibulofacial Dysostosis-Microcephaly Syndrome	Telecanthus, Accessory oral frenulum, Hypoplasia of the maxilla, Micrognathia, Cleft palate, Mala...	ORPHA:79113
Alg3-Cdg	Osteopenia, Abnormality of the gastrointestinal tract, Coarctation of the descending aortic arch,...	ORPHA:79321
Hypertelorism And Other Facial Dysmorphism, Brachydactyly, Genital Abnormalities, Mental Retardation, And Recurrent Inflammatory Episodes	Perianal abscess, Broad finger, Pectus carinatum, Upturned corners of mouth, Pectus excavatum, Pe...	OMIM:614684
3Mc Syndrome 2	Limited elbow movement, Caudal appendage, Abnormal vertebral morphology, Joint hypermobility, Abn...	OMIM:265050
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate	Widely spaced teeth, Patent ductus arteriosus, Conical tooth, Hypodontia, Absent eyelashes, 2-3 t...	OMIM:106260
Hypertelorism, Microtia, Facial Clefting Syndrome	Tessier cleft, Abnormal vertebral morphology, Abnormality of the vertebral column, 2-3 toe syndac...	OMIM:239800
Pierpont Syndrome	Thin vermilion border, Short finger, Widely spaced teeth, Microphthalmia, Telecanthus, Blepharoph...	OMIM:602342
Stickler Syndrome	Reduced bone mineral density, Spondylolisthesis, Abnormal form of the vertebral bodies, Pectus ca...	ORPHA:828
Renpenning Syndrome	Abnormal thumb morphology, High, narrow palate, Clinodactyly of the 5th finger, Short philtrum, M...	ORPHA:3242
7Q31 Microdeletion Syndrome	Short palpebral fissure, Clinodactyly of the 2nd finger, Telecanthus, Recurrent respiratory infec...	ORPHA:251061
Tetraamelia Syndrome 1	Abnormal clavicle morphology, Congenital diaphragmatic hernia, Anal atresia, Hypoplastic pelvis, ...	OMIM:273395
Multinucleated Neurons, Anhydramnios, Renal Dysplasia, Cerebellar Hypoplasia, And Hydranencephaly	Stillbirth, Clinodactyly of the 5th finger, Single transverse palmar crease, 2-3 toe syndactyly, ...	OMIM:236500
Osteogenesis Imperfecta, Type V	Osteopenia, Anterior radial head dislocation, Vertebral wedging, Hyperextensibility of the finger...	OMIM:610967
Saethre-Chotzen Syndrome	Bilateral single transverse palmar creases, Abnormal form of the vertebral bodies, Hyperlordosis,...	ORPHA:794
Cleft Lip/Palate-Ectodermal Dysplasia Syndrome	Bilateral single transverse palmar creases, Highly arched eyebrow, Bilateral cleft palate, Hyperl...	ORPHA:3253
Trisomy 18	Bilateral single transverse palmar creases, Congenital diaphragmatic hernia, Abnormal hip bone mo...	ORPHA:3380
Schneckenbecken Dysplasia	Snail-like ilia, Short ribs, Short long bone, Flat acetabular roof, Dumbbell-shaped long bone, Th...	OMIM:269250
Holoprosencephaly	Congenital diaphragmatic hernia, Solitary median maxillary central incisor, Abnormal form of the ...	ORPHA:2162
Lymphedema, Cardiac Septal Defects, And Characteristic Facies	Telecanthus, Omphalocele, Vascular ring, Epicanthus, Patent ductus arteriosus, Overriding aorta, ...	OMIM:601927
Meckel Syndrome, Type 8	Polydactyly, Microphthalmia, Anophthalmia, Cleft upper lip, Pericardial effusion, Cleft palate, S...	OMIM:613885
Kleefstra Syndrome	Highly arched eyebrow, Everted lower lip vermilion, Bicuspid aortic valve, Hernia, Advanced erupt...	ORPHA:261494
Short-Rib Thoracic Dysplasia 8 With Or Without Polydactyly	Lateral clavicle hook, Preaxial polydactyly, Narrow chest, Short ribs, Femoral bowing, Short long...	OMIM:615503
Thrombocytopenia, Paris-Trousseau Type	Radial deviation of finger, Pyloric stenosis, Ptosis, Micrognathia, Thrombocytopenia, Clinodactyly	OMIM:188025
Cerebrofaciothoracic Dysplasia	Narrow chest, Scoliosis, Hemivertebrae, Vertebral segmentation defect, Synophrys, Rib fusion, Cle...	ORPHA:1394
Desbuquois Syndrome	Abnormal metaphysis morphology, Clinodactyly of the 5th finger, Abnormal femoral neck/head morpho...	ORPHA:1425
Roifman Syndrome	Biconvex vertebral bodies, Short metacarpal, Irregular femoral epiphysis, Splenomegaly, Long phil...	OMIM:616651
Cantú Syndrome	Deep plantar creases, Wide mouth, Umbilical hernia, Long philtrum, Short distal phalanx of finger...	ORPHA:1517
Chromosome 15Q25 Deletion Syndrome	Congenital diaphragmatic hernia, Thin vermilion border, Dextrocardia, Macrocytic anemia, Inguinal...	OMIM:614294
Fetal Akinesia Deformation Sequence 1	Rocker bottom foot, Wrist flexion contracture, Thoracic hypoplasia, Long philtrum, Ulnar deviatio...	OMIM:208150
Autosomal Recessive Spondylocostal Dysostosis	Congenital diaphragmatic hernia, Abnormal intervertebral disk morphology, Spina bifida occulta, A...	ORPHA:2311
Opitz Gbbb Syndrome	Congenital diaphragmatic hernia, Tracheoesophageal fistula, Abnormal heart morphology, Recurrent ...	ORPHA:2745
Fetal Akinesia Deformation Sequence	Pterygium, Scoliosis, Intestinal hypoplasia, Arthrogryposis multiplex congenita, Cryptorchidism, ...	ORPHA:994
Orofaciodigital Syndrome Type 5	Abnormal oral frenulum morphology, Bifid uvula, Accessory oral frenulum, Aganglionic megacolon, A...	ORPHA:2919
Fetal Alcohol Syndrome	Congenital diaphragmatic hernia, Microphthalmia, Telecanthus, Non-midline cleft of the upper lip,...	ORPHA:1915
Adams-Oliver Syndrome 4	Microphthalmia, Patent ductus arteriosus, Absent middle phalanx of the 3rd toe, Aplasia of the di...	OMIM:615297
Meier-Gorlin Syndrome 7	Dislocated radial head, Clubbing, Joint hypermobility, Craniosynostosis, Scoliosis, Cryptorchidis...	OMIM:617063
Anophthalmia-Megalocornea-Cardiopathy-Skeletal Anomalies Syndrome	Long philtrum, High, narrow palate, Tricuspid valve prolapse, Inguinal hernia, Abnormal size of t...	ORPHA:1101
Acrodysostosis 1 With Or Without Hormone Resistance	Decreased growth hormone responses to growth hormone-releasing hormone challenge, Cone-shaped epi...	OMIM:101800
Neurogenic Thoracic Outlet Syndrome	Abnormal rib morphology	ORPHA:100073
Microphthalmia With Cyst, Bilateral Facial Clefts, And Limb Anomalies	Tessier cleft, High, narrow palate, Bilateral microphthalmos, Telecanthus, Optic nerve hypoplasia...	OMIM:607597
Rapp-Hodgkin Syndrome	Decreased number of sweat glands, Microdontia, Bifid uvula, Syndactyly, Anhidrotic ectodermal dys...	OMIM:129400
Acrocephalopolydactylous Dysplasia	Hepatomegaly, Extrapulmonary lobar sequestration, Hypoplasia of the small intestine, Postaxial ha...	OMIM:200995
Facial Clefting, Oblique, 1	Cleft upper lip, Tessier number 4 facial cleft, Cleft palate, Microphthalmia	OMIM:600251
Marden-Walker Syndrome	Retrognathia, Abnormal form of the vertebral bodies, Pectus carinatum, Pectus excavatum, Kyphosis...	ORPHA:2461
Myoectodermal Gonadal Dysgenesis Syndrome	Hypoplasia of the lacrimal punctum, Highly arched eyebrow, Bifid distal phalanx of the thumb, Ele...	OMIM:618419
Mucopolysaccharidosis, Type Ivb	Hyperlordosis, Kyphosis, Joint stiffness, Aortic valve stenosis, Constricted iliac wing, Wide mou...	OMIM:253010
Autosomal Dominant Spondylocostal Dysostosis	Spina bifida occulta, Short thorax, Scoliosis, Hyperlordosis, Vertebral segmentation defect, Miss...	ORPHA:1797
Achondrogenesis	Narrow chest, Inguinal hernia, Short thorax, Abnormality of bone mineral density, Abnormal enchon...	ORPHA:932
Mucopolysaccharidosis Type 4	Reduced bone mineral density, Pectus carinatum, Hyperlordosis, Kyphosis, Wide mouth, Abnormal epi...	ORPHA:582
Craniometadiaphyseal Dysplasia, Wormian Bone Type	Short tubular bones of the hand, Osteopenia, Abnormal foot morphology, Abnormal diaphysis morphol...	ORPHA:85184
Yuan-Harel-Lupski Syndrome	Talipes valgus, Bicuspid aortic valve, Clinodactyly of the 5th finger, Sandal gap, Aortic root an...	OMIM:616652
Brachydactyly, Type B1	Joint contracture of the hand, Aplasia/Hypoplasia of the distal phalanges of the hand, Hypoplasti...	OMIM:113000
Meier-Gorlin Syndrome 3	Absent sternal ossification, Short ribs, Genu varum, Breast hypoplasia, Short thorax, Downslanted...	OMIM:613803
Gastrointestinal Defects And Immunodeficiency Syndrome 1	Intestinal obstruction, Impaired lymphocyte transformation with phytohemagglutinin, Death in infa...	OMIM:243150
Congenital Unilateral Hypoplasia Of Depressor Anguli Oris	Congenital diaphragmatic hernia, Abnormal hip bone morphology, Abnormal lower lip morphology, Ver...	ORPHA:1166
Developmental Delay With Or Without Dysmorphic Facies And Autism	Congenital diaphragmatic hernia, Highly arched eyebrow, Upslanted palpebral fissure, Wide mouth, ...	OMIM:618454
Kagami-Ogata Syndrome	Kyphoscoliosis, Pursed lips, Bell-shaped thorax, Inguinal hernia, Limitation of joint mobility, D...	ORPHA:254519
Desbuquois Dysplasia 2	Dental crowding, Pectus carinatum, Short long bone, Flat acetabular roof, Short metacarpal, Pectu...	OMIM:615777
Peroxisome Biogenesis Disorder 6A (Zellweger)	Neonatal death, Colpocephaly, Pachygyria	OMIM:614870
Peroxisome Biogenesis Disorder 8A (Zellweger)	Jaundice, Hepatomegaly, Epiphyseal stippling, Glossoptosis, Death in infancy, Ventricular septal ...	OMIM:614876
Goldberg-Shprintzen Syndrome	Aganglionic megacolon, Clinodactyly of the 5th finger, Telecanthus, Short philtrum, Highly arched...	OMIM:609460
Cofs Syndrome	Microphthalmia, Everted lower lip vermilion, Prominent metopic ridge, Joint stiffness, Camptodact...	ORPHA:1466
Ogden Syndrome	Left atrial enlargement, Bilateral ptosis, Everted upper lip vermilion, Sandal gap, Pectus excava...	OMIM:300855
Heart Defects, Congenital, And Other Congenital Anomalies	Congenital diaphragmatic hernia, Biliary atresia, Microcolon, Pulmonic stenosis, Intestinal malro...	OMIM:600001
Cowden Syndrome 5	Scoliosis, High palate, Furrowed tongue, Narrow mouth, Hamartomatous polyposis, Hypoplasia of the...	OMIM:615108
Cerebrooculofacioskeletal Syndrome 3	Rocker bottom foot, Cutaneous photosensitivity, Micrognathia, Cleft palate, Arthrogryposis multip...	OMIM:616570
X-Linked Intellectual Disability, Hedera Type	Scoliosis, Calcaneovalgus deformity, Left ventricular hypertrophy, Absent Achilles reflex, Hypore...	ORPHA:93952
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
Nail-Patella Syndrome	Pectus excavatum, Patellar dislocation, Disproportionate prominence of the femoral medial condyle...	OMIM:161200
Epidermolysis Bullosa, Junctional 1B, Severe	Atrophic scars, Death in infancy, Pyloric stenosis, Carious teeth, Enamel hypoplasia, Syndactyly	OMIM:226700
Noonan Syndrome 7	Cubitus valgus, Deep palmar crease, Pectus carinatum, Scoliosis, Abnormal esophagus morphology, H...	OMIM:613706
Orofaciodigital Syndrome V	Sandal gap, Bifid uvula, Aganglionic megacolon, Scoliosis, Postaxial hand polydactyly, Downslante...	OMIM:174300
Bullous Dystrophy, Hereditary Macular Type	Short finger, Death in childhood, Tapered finger, Acrocyanosis	OMIM:302000
Blepharonasofacial Malformation Syndrome	Inguinal hernia, Telecanthus, Finger syndactyly, Non-midline cleft of the upper lip, Abnormal eye...	ORPHA:1252
Holoprosencephaly-Radial Heart Renal Anomalies Syndrome	Hypoplasia of the ulna, Orofacial cleft, Hypoplasia of the radius, Microphthalmia, Aplasia/Hypopl...	ORPHA:3186
Peters-Plus Syndrome	Bilobate gallbladder, Limited elbow movement, Square pelvis bone, Proximal placement of thumb, Sh...	OMIM:261540
Bowen-Conradi Syndrome	Rocker bottom foot, Micrognathia, Clinodactyly of the 5th finger, Abnormal joint morphology	OMIM:211180
Spondylometaphyseal Dysplasia, Axial	Narrow greater sciatic notch, Rhizomelia, Narrow chest, Scoliosis, Coxa vara, Anterior rib cuppin...	OMIM:602271
Spondyloepiphyseal Dysplasia-Brachydactyly And Distinctive Speech	Anterior scalloping of vertebral bodies, Hypoplastic iliac wing, Short long bone, Short metacarpa...	OMIM:611717
Truncus Arteriosus	Pulmonic stenosis, Abnormal heart morphology, Cardiomegaly, Transposition of the great arteries, ...	ORPHA:3384
Koolen-De Vries Syndrome Due To A Point Mutation	Spondylolisthesis, Pectus carinatum, Prominent fingertip pads, Cardiomyopathy, Everted lower lip ...	ORPHA:363965
17Q21.31 Microdeletion Syndrome	Spondylolisthesis, Pectus carinatum, Prominent fingertip pads, Cardiomyopathy, Everted lower lip ...	ORPHA:363958
Macrosomia-Microphthalmia-Cleft Palate Syndrome	Microphthalmia, Hepatomegaly, Abnormality of the fontanelles or cranial sutures, Median cleft palate	ORPHA:2432
Hydrops Fetalis, Nonimmune, With Gracile Bones And Dysmorphism	Upper limb undergrowth, Pulmonary hypoplasia, Thoracic hypoplasia	OMIM:613124
Campomelia, Cumming Type	Hepatomegaly, Prematurely aged appearance, Abnormal intestine morphology, Abnormally ossified ver...	ORPHA:1318
Cerebrooculofacioskeletal Syndrome 4	Rocker bottom foot, Kyphoscoliosis, Flexion contracture of toe, Dislocated radial head, Steep ace...	OMIM:610758
Distal Deletion 19P	Pulmonary valve atresia, Tricuspid valve prolapse, Short philtrum, Vaginal hernia, Hypoplasia of ...	ORPHA:96129
Intellectual Developmental Disorder, Autosomal Recessive 13	Short philtrum, Slender finger, Synophrys, Cleft upper lip, Downturned corners of mouth, Smooth p...	OMIM:613192
Phaver Syndrome	Butterfly vertebrae, Triphalangeal thumb, Hypoplastic aortic arch, Pterygium, Abnormal form of th...	ORPHA:2876
Oculodentodigital Dysplasia	Abnormal form of the vertebral bodies, Broad alveolar ridges, Tooth agenesis, Umbilical hernia, C...	ORPHA:2710
Cutis Laxa, Autosomal Recessive, Type Iic	Kyphoscoliosis, Dental crowding, Mitral valve prolapse, Joint hypermobility, Overlapping toe, Lon...	OMIM:617402
Pseudoachondroplasia	Short long bone, Short metacarpal, Kyphosis, Metaphyseal irregularity, Short distal phalanx of fi...	OMIM:177170
Schwartz-Jampel Syndrome, Type 1	Kyphoscoliosis, Flexion contracture of toe, Pectus carinatum, Wrist flexion contracture, Umbilica...	OMIM:255800
Neurodevelopmental Disorder With Microcephaly, Arthrogryposis, And Structural Brain Anomalies	Rocker bottom foot, Short palpebral fissure, Thin vermilion border, Short philtrum, Highly arched...	OMIM:618622
Caudal Regression Syndrome	Orofacial cleft, Aplasia/Hypoplasia of the sacrum, Abnormal iliac wing morphology, Scoliosis, Abn...	ORPHA:3027
Waardenburg Syndrome Type 3	Atelectasis, Telecanthus, Tracheomalacia, Abnormal finger morphology, Abnormality of the upper li...	ORPHA:896
Cardiocranial Syndrome, Pfeiffer Type	High, narrow palate, Deep palmar crease, Plantar flexion contracture, Temporomandibular joint ank...	ORPHA:2872
Kbg Syndrome	Finger clinodactyly, Telecanthus, Oligodontia, Scoliosis, Thoracic kyphosis, Synophrys, Long palp...	ORPHA:2332
Schinzel-Giedion Syndrome	Kyphoscoliosis, Stiff elbow, Retrognathia, Broad alveolar ridges, Tibial bowing, Shallow orbits, ...	ORPHA:798
Ruvalcaba Syndrome	Limited elbow extension, Short metatarsal, Narrow chest, Inguinal hernia, Dental crowding, Scolio...	OMIM:180870
Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome	Long philtrum, Wide anterior fontanel, Patent foramen ovale, Scoliosis, High palate, Congenital h...	ORPHA:457279
Distal Deletion 12Q	Kyphoscoliosis, Biliary atresia, Pituitary adenoma, Aplasia/Hypoplasia of the middle phalanx of t...	ORPHA:96149
Vertical Talus, Congenital	Rocker bottom foot, Arthritis, Equinus calcaneus, Calcaneovalgus deformity	OMIM:192950
Dislocation Of The Hip-Dysmorphism Syndrome	Abnormal palate morphology, Abnormal tricuspid valve morphology, Patent ductus arteriosus, Inguin...	ORPHA:2412
Craniofrontonasal Syndrome	Congenital diaphragmatic hernia, Pectus excavatum, Umbilical hernia, Joint hypermobility, Breast ...	OMIM:304110
17Q12 Microduplication Syndrome	Microphthalmia, Abnormal vertebral morphology, Finger syndactyly, Tracheoesophageal fistula, Syno...	ORPHA:261272
Heterotaxy, Visceral, 2, Autosomal	Situs inversus totalis, Atrioventricular canal defect, Transposition of the great arteries, Mesoc...	OMIM:605376
Cenani-Lenz Syndrome	Ectropion, Abnormal form of the vertebral bodies, Oligodactyly, Hip dislocation, Hypoplasia of th...	ORPHA:3258
Acromicric Dysplasia	Thick lower lip vermilion, Short long bone, Narrow mouth, Short metacarpal, Short foot, Long eyel...	OMIM:102370
Paternal Uniparental Disomy Of Chromosome X	Cubitus valgus, Short metacarpal, Decreased testicular size, Shield chest, Short neck	ORPHA:261524
Cooper-Jabs Syndrome	Congenital diaphragmatic hernia, Reduced bone mineral density, Abnormal hip bone morphology, Prox...	ORPHA:1488
3C Syndrome	Abnormal hip bone morphology, Kyphosis, Death in infancy, Pulmonic stenosis, Abnormal mitral valv...	ORPHA:7
Distal Deletion 10P	Bilateral single transverse palmar creases, Clinodactyly of the 5th finger, Non-midline cleft of ...	ORPHA:1580
Osteochondrosis Of The Tarsal Bone	Osteochondritis dissecans, Tarsal sclerosis, Arthritis, Abnormal tarsal ossification, Flattening ...	ORPHA:563991
Dyskeratosis Congenita	Premature graying of hair, Neoplasm of the pancreas, Anorectal anomaly, Tracheoesophageal fistula...	ORPHA:1775
Yunis-Varon Syndrome	Rocker bottom foot, Broad secondary alveolar ridge, Absent sternal ossification, Abnormal finger ...	ORPHA:3472
Frontometaphyseal Dysplasia 1	Limited elbow movement, Cervical C2/C3 vertebral fusion, Dislocated radial head, Wrist flexion co...	OMIM:305620
Short Stature-Wormian Bones-Dextrocardia Syndrome	Dextrocardia, Delayed eruption of teeth, Broad alveolar ridges, Abnormality of the philtrum, High...	ORPHA:2863
Fallot Complex With Severe Mental And Growth Retardation	Pulmonic stenosis, Double outlet right ventricle, Ventricular septal defect, Tetralogy of Fallot	OMIM:601127
Intellectual Disability-Craniofacial Dysmorphism-Cryptorchidism Syndrome	Bilateral ptosis, Highly arched eyebrow, Pectus excavatum, Broad thumb, Wide mouth, Umbilical her...	ORPHA:329224
Distal Arthrogryposis Type 1	Rocker bottom foot, Talipes, Abnormal hip bone morphology, Narrow mouth, Joint stiffness, Camptod...	ORPHA:1146
Intellectual Developmental Disorder, Autosomal Dominant 44, With Microcephaly	Retrognathia, Sandal gap, Dental crowding, Pectus excavatum, Kyphosis, Dysphagia, Long philtrum, ...	OMIM:617061
Temtamy Syndrome	Abnormal palate morphology, Microphthalmia, Thick lower lip vermilion, Clinodactyly of the 5th fi...	ORPHA:1777
Craniometadiaphyseal Dysplasia	Dental crowding, Microdontia, Broad ribs, Genu varum, Coxa valga, Absent paranasal sinuses, Scoli...	OMIM:269300
Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked	Rocker bottom foot, Optic nerve hypoplasia, Pulmonic stenosis, Leukopenia, Craniosynostosis, Mega...	OMIM:301056
Arthrogryposis, Distal, Type 2A	Rocker bottom foot, Kyphoscoliosis, Flexion contracture of toe, Dental crowding, Wrist flexion co...	OMIM:193700
Cowden Syndrome 6	Scoliosis, High palate, Furrowed tongue, Narrow mouth, Hamartomatous polyposis, Hypoplasia of the...	OMIM:615109
Hyperphosphatasia With Impaired Intellectual Development Syndrome 1	Aganglionic megacolon, Short philtrum, Highly arched eyebrow, Delayed ossification of carpal bone...	OMIM:239300
Apert Syndrome	Narrow palate, Ovarian neoplasm, Esophageal atresia, Delayed eruption of teeth, Aplasia/Hypoplasi...	ORPHA:87
Orofaciodigital Syndrome Vi	Radial deviation of finger, Tibial bowing, Accessory oral frenulum, Tongue nodules, Clinodactyly,...	OMIM:277170
Splenogonadal Fusion-Limb Defects-Micrognathia Syndrome	Narrow palate, Abnormal fibula morphology, Abnormal palate morphology, Abnormal femur morphology,...	ORPHA:2063
Craniosynostosis, Herrmann-Opitz Type	Finger syndactyly, Split hand, Abnormal rib morphology, Micromelia, Micrognathia, Cleft palate, M...	ORPHA:2145
Ptosis-Upper Ocular Movement Limitation-Absence Of Lacrimal Punctum Syndrome	Clinodactyly of the 5th finger, Telecanthus, Highly arched eyebrow, Absent eyelashes, Hypoplasia ...	ORPHA:228396
Hoxha-Aliu Syndrome	Contracture of the proximal interphalangeal joint of the 4th finger, Absent fifth metatarsal, Hig...	OMIM:620662
Heterotaxy, Visceral, 9, Autosomal, With Male Infertility	Situs inversus totalis, Dextrocardia, Asplenia	OMIM:618948
Grant Syndrome	Abnormal palate morphology, Abnormal cortical bone morphology, Joint dislocation, Narrow chest, W...	ORPHA:2097
Frank-Ter Haar Syndrome	Beaking of vertebral bodies, Clinodactyly of the 5th finger, Abnormal metacarpal morphology, Shor...	ORPHA:137834
Digitotalar Dysmorphism	Rocker bottom foot, Camptodactyly of finger, Ulnar deviation of finger	OMIM:126050
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome	Polydactyly, Microphthalmia, Ventricular septal defect, Downslanted palpebral fissures, Syndactyl...	OMIM:602501
White Forelock With Malformations	Abnormal palate morphology, Clinodactyly of the 5th finger, Spina bifida occulta, Finger syndacty...	ORPHA:2475
Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency	Bilateral ptosis, Microphthalmia, Broad distal phalanx of finger, Highly arched eyebrow, Kyphosis...	ORPHA:404440
Ehlers-Danlos Syndrome, Periodontal Type, 2	Gingival fragility, Inguinal hernia, Periodontitis, Joint dislocation, Scoliosis, Gingival recess...	OMIM:617174
Mesomelic Dysplasia, Kantaputra Type	Abnormal fibula morphology, Tarsal synostosis, Clinodactyly of the 5th finger, Cubitus valgus, Ta...	ORPHA:1836
Hydrocephalus-Costovertebral Dysplasia-Sprengel Anomaly Syndrome	Sandal gap, Abnormal form of the vertebral bodies, Cutaneous photosensitivity, Abnormal dental en...	ORPHA:2180
Osteogenesis Imperfecta, Type Ix	Recurrent fractures, Scoliosis, Wormian bones, Kyphosis, Decreased calvarial ossification, Multip...	OMIM:259440
Otospondylomegaepiphyseal Dysplasia, Autosomal Recessive	Short long bone, Prominent interphalangeal joints, Short palm, Short phalanx of finger, Cleft pal...	OMIM:215150
Diastrophic Dysplasia	Kyphoscoliosis, Short finger, Genu valgum, Irregular epiphyses, Hitchhiker thumb, Scoliosis, Shor...	OMIM:222600
Anophthalmia Plus Syndrome	Tessier cleft, Anophthalmia, Non-midline cleft of the upper lip, Bilateral cleft palate, Vertebra...	ORPHA:1104
Developmental And Speech Delay Due To Sox5 Deficiency	Narrow palate, Butterfly vertebrae, Gastroesophageal reflux, Dental crowding, 2-3 toe syndactyly,...	ORPHA:313892
Zellweger Syndrome	Jaundice, Hepatomegaly, Epiphyseal stippling, Wide anterior fontanel, High palate, Death in infan...	ORPHA:912
Sandestig-Stefanova Syndrome	Rocker bottom foot, Orofacial cleft, Perimembranous ventricular septal defect, Muscular ventricul...	OMIM:618804
Subaortic Stenosis-Short Stature Syndrome	Microphthalmia, Inguinal hernia, Scoliosis, Membranous subvalvular aortic stenosis, Synostosis of...	ORPHA:3191
Spondyloepimetaphyseal Dysplasia, X-Linked, With Hypomyelinating Leukodystrophy	Kyphoscoliosis, Flared iliac wing, Flattened epiphysis, Broad palm, Short finger, Small epiphyses...	OMIM:300232
Ritscher-Schinzel Syndrome 3	Hypoplasia of the ulna, Microphthalmia, Atrioventricular canal defect, Short first metatarsal, Ul...	OMIM:619135
2Q31.1 Microdeletion Syndrome	Microphthalmia, Sandal gap, Everted lower lip vermilion, Kyphosis, Long philtrum, Abnormal fibula...	ORPHA:251014
Kapur-Toriello Syndrome	Bilateral single transverse palmar creases, Clinodactyly of the 5th toe, Single transverse palmar...	OMIM:244300
Cerebrofacioarticular Syndrome	Osteopenia, Caudal appendage, Anal stenosis, Tracheomalacia, Narrow mouth, Camptodactyly, Irregul...	ORPHA:314679
Aminopterin Syndrome Sine Aminopterin	Inguinal hernia, Highly arched eyebrow, Oligodontia, High palate, Umbilical hernia, Arachnodactyl...	OMIM:600325
Arthrogryposis Multiplex Congenita 4, Neurogenic, With Agenesis Of The Corpus Callosum	Rocker bottom foot, Thin vermilion border, Death in childhood, Narrow mouth, Death in infancy, Cr...	OMIM:618766
Frontorhiny	Pericallosal lipoma, Scoliosis, Hypoplastic frontal sinuses, Hypoplasia of the maxilla, Camptodac...	ORPHA:391474
External Auditory Canal, Bilateral Atresia Of, With Congenital Vertical Talus	Rocker bottom foot, Bilateral single transverse palmar creases, Single transverse palmar crease, ...	OMIM:133705
Maternal Uniparental Disomy Of Chromosome X	Rocker bottom foot, Thin vermilion border, Cubitus valgus, Scoliosis, Camptodactyly of finger, Sh...	ORPHA:261519
Orofacial Cleft 5	Cleft upper lip, Cleft palate	OMIM:608874
Orofacial Cleft 6, Susceptibility To	Cleft upper lip, Cleft palate	OMIM:608864
Orofacial Cleft 10	Unilateral cleft lip, Unilateral cleft palate	OMIM:613705
Holzgreve Syndrome	Abnormal metacarpal morphology, Abnormally ossified vertebrae, Abnormal rib morphology, Joint sti...	ORPHA:2167
Orofacial Cleft 1	Cleft upper lip, Cleft palate	OMIM:119530
Treacher-Collins Syndrome	Retrognathia, Glossoptosis, Thyroid hypoplasia, Tracheoesophageal fistula, Tooth agenesis, Wide m...	ORPHA:861
Feingold Syndrome	Short palpebral fissure, Annular pancreas, Orofacial cleft, Clinodactyly of the 5th finger, Esoph...	ORPHA:1305
Cortical Dysplasia, Complex, With Other Brain Malformations 15	Synophrys, Hypoplasia of the maxilla, Widely-spaced incisors, Thick eyebrow, Smooth philtrum, Ups...	OMIM:618737
Spondyloepimetaphyseal Dysplasia, Guo-Campeau Type	Proximal placement of thumb, Clinodactyly of the 2nd finger, Dislocated radial head, Absent toe, ...	OMIM:620663
Suleiman-El-Hattab Syndrome	Highly arched eyebrow, Wide mouth, Long philtrum, Palpebral thickening, Clinodactyly, Polydactyly...	OMIM:618950
Dystonia-Deafness Syndrome 1	Kyphoscoliosis, Femoral retroversion, Cleft upper lip, Cleft palate, Dysphagia, Achalasia, Hypopl...	OMIM:607371
Cleft Palate-Short Stature-Vertebral Anomalies Syndrome	Abnormal vertebral morphology, Cleft palate, Epicanthus, Short neck, Thin upper lip vermilion	ORPHA:2015
Robinow Syndrome, Autosomal Recessive 1	Retrognathia, Hypoplastic sacrum, Radial deviation of finger, Mesomelic arm shortening, Dislocate...	OMIM:268310
ERI1-related disease	Dislocated radial head, Pectus carinatum, Oligodactyly, Pectus excavatum, Abnormal heart morpholo...	OMIM:608739
Distal Deletion 17Q	Abnormal thumb morphology, Hepatomegaly, Abnormal metacarpal morphology, Abnormal hip bone morpho...	ORPHA:1597
Neurodevelopmental Disorder With Poor Growth, Large Ears, And Dysmorphic Facies	Osteopenia, Recurrent lower respiratory tract infections, Pectus carinatum, High palate, Broad th...	OMIM:620194
Bartsocas-Papas Syndrome 2	Popliteal pterygium, Axillary pterygium, Microphthalmia, Bilateral cleft palate, Wide anterior fo...	OMIM:619339
Diamond-Blackfan Anemia 1	Retrognathia, Hypoplastic coccygeal vertebrae, Macrocytic anemia, Absent thumb, Hypoplastic sacra...	OMIM:105650
Epiphyseal Dysplasia, Multiple, 1	Genu valgum, Irregular epiphyses, Hip osteoarthritis, Small epiphyses, Delayed epiphyseal ossific...	OMIM:132400
Nasopalpebral Lipoma-Coloboma Syndrome	Clinodactyly of the 5th finger, Upper eyelid coloboma, Telecanthus, Hypoplasia of the maxilla, Co...	OMIM:167730
48,Xxyy Syndrome	Joint hypermobility, Taurodontia, Broad jaw, Inguinal hernia, Scoliosis, Carious teeth, Cleft pal...	ORPHA:10
Autosomal Dominant Centronuclear Myopathy	Proximal muscle weakness in upper limbs, Thin ribs, Calf muscle hypertrophy, Abnormality of the f...	ORPHA:169189
Weyers Ulnar Ray/Oligodactyly Syndrome	Hypoplasia of the radius, Proximal radial head dislocation, Solitary median maxillary central inc...	OMIM:602418
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
Trigonocephaly-Short Stature-Developmental Delay Syndrome	Broad secondary alveolar ridge, Inguinal hernia, High palate, Multiple suture craniosynostosis, S...	ORPHA:3369
Congenital Heart Defects, Multiple Types, 9	Arteria lusoria, Transposition of the great arteries, Single ventricle of indeterminate morpholog...	OMIM:620294
Hennekam Syndrome	Retrognathia, Arteriovenous malformation, Tooth agenesis, Lymphangioma, Splenomegaly, Lymphopenia...	ORPHA:2136
Blepharocheilodontic Syndrome 1	Conical tooth, Euryblepharon, Distichiasis, Anal atresia, Cleft upper lip, Ectropion of lower eye...	OMIM:119580
Gorlin-Chaudhry-Moss Syndrome	Abnormal foot morphology, Upper eyelid coloboma, Abnormal metacarpal morphology, Abnormal eyelid ...	ORPHA:2095
Donnai-Barrow Syndrome	Congenital diaphragmatic hernia, Wide anterior fontanel, Omphalocele, Intestinal malrotation, Sho...	OMIM:222448
C Syndrome	Bilateral single transverse palmar creases, Congenital diaphragmatic hernia, Dislocated radial he...	ORPHA:1308
X-Linked Intellectual Disability, Abidi Type	Non-midline cleft of the upper lip, Scoliosis, Pectus excavatum, Decreased testicular size, Cleft...	ORPHA:85273
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 1	Spondylolisthesis, Sandal gap, Dental crowding, Everted lower lip vermilion, Pectus excavatum, Pu...	OMIM:617877
Contractural Arachnodactyly, Congenital	Kyphoscoliosis, Pectus carinatum, Wrist flexion contracture, Congenital finger flexion contractur...	OMIM:121050
Wiedemann-Steiner Syndrome	Broad lateral eyebrow, Highly arched eyebrow, Contracture of the distal interphalangeal joint of ...	OMIM:605130
Specc1L-Related Hypertelorism Syndrome	Highly arched eyebrow, Everted lower lip vermilion, Pectus excavatum, Umbilical hernia, Long phil...	ORPHA:1519
Meier-Gorlin Syndrome 4	Lateral clavicle hook, Breast hypoplasia, Thick lower lip vermilion, Emphysema, Slender long bone...	OMIM:613804
Ear-Patella-Short Stature Syndrome	Retrognathia, Bifid uvula, Abnormal epiphysis morphology, Joint hypermobility, Craniosynostosis, ...	ORPHA:2554
Agnathia-Otocephaly Complex	Situs inversus totalis, Tracheomalacia, Respiratory distress, Narrow mouth, Mandibular aplasia, D...	OMIM:202650
Fontaine Progeroid Syndrome	Retrognathia, Aplastic/hypoplastic lacrimal glands, Everted lower lip vermilion, Microdontia, Dea...	OMIM:612289
Zaki Syndrome	Congenital diaphragmatic hernia, Broad distal phalanx of finger, Sacral dimple, Short philtrum, P...	OMIM:619648
Distal Deletion 15Q	Congenital diaphragmatic hernia, Abnormal aortic arch morphology, Double outlet right ventricle w...	ORPHA:1596
Microcephalic Primordial Dwarfism, Toriello Type	Abnormal rib morphology, Enamel hypoplasia, Downslanted palpebral fissures, Downturned corners of...	ORPHA:2643
Gaucher Disease, Perinatal Lethal	Retrognathia, Everted upper lip vermilion, Everted lower lip vermilion, Splenomegaly, Thoracic hy...	OMIM:608013
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
Simpson-Golabi-Behmel Syndrome, Type 1	Narrow greater sciatic notch, Congenital diaphragmatic hernia, Short greater sciatic notch, Mecke...	OMIM:312870
Bartsocas-Papas Syndrome	Popliteal pterygium, Talipes, Sparse or absent eyelashes, Finger syndactyly, Narrow mouth, Synost...	ORPHA:1234
Intellectual Developmental Disorder With Dysmorphic Facies, Seizures, And Distal Limb Anomalies	Retrognathia, Sacral dimple, Highly arched eyebrow, Scoliosis, High palate, Long eyelashes, Broad...	OMIM:617452
Loeys-Dietz Syndrome 5	Kyphoscoliosis, Retrognathia, Flexion contracture of toe, Spondylolisthesis, Pectus carinatum, Pe...	OMIM:615582
Heterotaxy, Visceral, 5, Autosomal	Intestinal malrotation, Absence of the sacrum, Right atrial isomerism, Ascending tubular aorta an...	OMIM:270100
Trigonocephaly With Short Stature And Developmental Delay	Lambdoidal craniosynostosis, Clinodactyly of the 5th finger, Inguinal hernia, Broad alveolar ridg...	OMIM:314320
Terminal Osseous Dysplasia	Mesomelic arm shortening, Abnormal hand bone ossification, Syndactyly, Accessory oral frenulum, C...	OMIM:300244
Osteogenesis Imperfecta, Type Xviii	Vertebral compression fracture, Thin ribs, Femoral bowing, Bowing of the long bones, Abnormality ...	OMIM:617952
Restrictive Dermopathy	Sparse or absent eyelashes, Temporomandibular joint ankylosis, Thoracic kyphoscoliosis, Decreased...	ORPHA:1662
Alar Cartilages Hypoplasia-Coloboma-Telecanthus Syndrome	Non-midline cleft of the upper lip, Telecanthus	ORPHA:2007
Genitopatellar Syndrome	Gastroesophageal reflux, Delayed eruption of teeth, Hypoplastic ilia, Hypoplastic ischia, Cryptor...	ORPHA:85201
Ritscher-Schinzel Syndrome 2	Clinodactyly of the 5th finger, Short philtrum, Wide anterior fontanel, Scoliosis, Prominent fing...	OMIM:300963
Fg Syndrome 3	Death in infancy, Pyloric stenosis, Broad thumb, Joint contracture, Broad hallux, Cryptorchidism	OMIM:300406
Elsahy-Waters Syndrome	Cervical C2/C3 vertebral fusion, Pectus excavatum, Bifid uvula, Broad philtrum, Abnormality of th...	OMIM:211380
Dysosteosclerosis	Short ribs, Broad femoral neck, Hypoplastic vertebral bodies, Delayed closure of the anterior fon...	OMIM:224300
Mandibulofacial Dysostosis With Alopecia	Dental crowding, Glossoptosis, Everted lower lip vermilion, Sparse eyelashes, Hypoplasia of the m...	OMIM:616367
Presynaptic Congenital Myasthenic Syndromes	Kyphoscoliosis, Pes cavus, Distal lower limb muscle weakness, Spinal rigidity, Cyanosis, Sudden e...	ORPHA:98914
Congenital Myasthenic Syndrome	Kyphoscoliosis, Pes cavus, Distal lower limb muscle weakness, Spinal rigidity, Cyanosis, Sudden e...	ORPHA:590
Mucopolysaccharidosis Type 6	Abnormal metaphysis morphology, Genu valgum, Thick lower lip vermilion, Abnormal heart valve morp...	ORPHA:583
Cowden Syndrome 1	Palmoplantar hyperkeratosis, Scoliosis, High palate, Furrowed tongue, Narrow mouth, Hamartomatous...	OMIM:158350
Turnpenny-Fry Syndrome	Hypoplasia of the primary teeth, Dental crowding, Pectus carinatum, Thoracic kyphoscoliosis, Pect...	OMIM:618371
Andersen-Tawil Syndrome	Clinodactyly of the 5th toe, Short palpebral fissure, Abnormality of dental color, Dental crowdin...	ORPHA:37553
Dermatosparaxis Ehlers-Danlos Syndrome	Joint stiffness, Joint hypermobility, Hernia, Coxa valga, Abnormality of subcutaneous fat tissue,...	ORPHA:1901
Severe Intellectual Disability-Epilepsy-Anal Anomalies-Distal Phalangeal Hypoplasia	Aplasia/Hypoplasia of the distal phalanges of the hand, Short philtrum, Highly arched eyebrow, Ec...	ORPHA:94066
Orofaciodigital Syndrome Xviii	Preaxial polydactyly, Genu valgum, Sandal gap, Short philtrum, Single transverse palmar crease, P...	OMIM:617927
Neu-Laxova Syndrome	Retrognathia, Everted lower lip vermilion, Bifid uvula, Rickets, Pterygium, Abnormality of the ph...	ORPHA:2671
Congenital Disorder Of Glycosylation, Type Iig	Kyphoscoliosis, Short long bone, Glossoptosis, Broad femoral neck, Left ventricular hypertrophy, ...	OMIM:611209
Robin Sequence-Oligodactyly Syndrome	Clinodactyly of the 5th finger, Abnormal metacarpal morphology, Abnormal form of the vertebral bo...	ORPHA:3104
Nphp3-Related Meckel-Like Syndrome	Abnormal liver parenchyma morphology, Abnormal biliary tract morphology, Intestinal malrotation, ...	ORPHA:3032
Mullerian Duct Aplasia, Unilateral Renal Agenesis, And Cervicothoracic Somite Anomalies	Abnormality of the vertebral column, Abnormal rib morphology, Cleft upper lip, Micrognathia, Clef...	OMIM:601076
Short Rib-Polydactyly Syndrome, Verma-Naumoff Type	Short ribs, Long philtrum, Short thorax, Postaxial hand polydactyly, Micromelia, Short palm, Prea...	ORPHA:93271
Coloboma, Ocular, With Or Without Hearing Impairment, Cleft Lip/Palate, And/Or Impaired Intellectual Development	Cleft upper lip, Microphthalmia, Cleft palate	OMIM:120433
Smith-Magenis Syndrome	Clinodactyly of the 5th finger, Short philtrum, Abnormal form of the vertebral bodies, Gastroesop...	ORPHA:819
Crouzon Syndrome	Narrow palate, Multiple suture craniosynostosis, Hypoplasia of the maxilla, Ptosis, Conjunctiviti...	ORPHA:207
Multiple Synostoses Syndrome 1	Proximal/middle symphalangism of 5th toe, Radial deviation of finger, Dislocated radial head, Pec...	OMIM:186500
Tibial Aplasia-Ectrodactyly Syndrome	Abnormal fibula morphology, Fibular hypoplasia, Abnormal femur morphology, Popliteal pterygium, F...	ORPHA:3329
Marfanoid Habitus-Autosomal Recessive Intellectual Disability Syndrome	Abnormal bone ossification, Thin metacarpal cortices, Pectus excavatum, Arachnodactyly, Abnormal ...	ORPHA:2463
Donnai-Barrow Syndrome	Congenital diaphragmatic hernia, Wide anterior fontanel, Omphalocele, Intestinal malrotation, Dow...	ORPHA:2143
Aicardi Syndrome	Butterfly vertebrae, Bifid ribs, Intestinal polyposis, Short philtrum, Gastroesophageal reflux, S...	ORPHA:50
Hajdu-Cheney Syndrome	Partial absence of toe, Pectus carinatum, Decreased skull ossification, Kyphosis, Aortic valve st...	ORPHA:955
Diaphragmatic Hernia 4, With Cardiovascular Defects	Hepatomegaly, Clinodactyly of the 5th finger, 11 pairs of ribs, Finger syndactyly, Aortic root an...	OMIM:620025
Axenfeld-Rieger Syndrome, Type 2	Anal stenosis, Telecanthus, Short philtrum, Inguinal hernia, Mandibular prognathia, Everted lower...	OMIM:601499
Lissencephaly 7 With Cerebellar Hypoplasia	Lissencephaly, Agyria, Death in infancy, Neonatal death, Agenesis of corpus callosum, Cerebellar ...	OMIM:616342
16P13.11 Microdeletion Syndrome	Gastroesophageal reflux, Exaggerated cupid's bow, Pectus excavatum, Cryptorchidism, Camptodactyly...	ORPHA:261236
Kniest Dysplasia	Tibial bowing, Pectus excavatum, Dumbbell-shaped long bone, Hypoplastic pelvis, Dumbbell-shaped f...	OMIM:156550
X-Linked Intellectual Disability, Sutherland-Haan Type	Mandibular prognathia, Anal atresia, Hypoplasia of the maxilla, Decreased testicular size, Upslan...	ORPHA:93950
Congenital Hypotonia, Epilepsy, Developmental Delay, And Digital Anomalies	Overlapping fingers, High, narrow palate, Microphthalmia, Joint hypermobility, Scoliosis, Promine...	OMIM:618494
Autosomal Recessive Amelia	Orofacial cleft, Non-midline cleft of the upper lip, Amelia involving the upper limbs, Acromelia ...	ORPHA:1027
Cartilage-Hair Hypoplasia	Abnormal bone ossification, Biconvex vertebral bodies, Abnormal hip bone morphology, Abnormal for...	ORPHA:175
Congenital Myopathy 1B, Autosomal Recessive	Scoliosis, High palate, Ptosis, Pulmonary hypoplasia, Increased connective tissue, Joint hypermob...	OMIM:255320
Waardenburg Syndrome Type 1	Premature graying of hair, Aganglionic megacolon, Telecanthus, Mandibular prognathia, Scoliosis, ...	ORPHA:894
Microcephaly-Cervical Spine Fusion Anomalies Syndrome	Abnormal clavicle morphology, Fused cervical vertebrae, Abnormal hip bone morphology, Hyperlordos...	ORPHA:2522
Congenital Laryngomalacia	Non-midline cleft of the upper lip, Cleft palate	ORPHA:2373
Schwartz-Jampel Syndrome	Spinal rigidity, Flexion contracture of toe, Pectus carinatum, Hyperlordosis, Wrist flexion contr...	ORPHA:800
Kid Syndrome	Progeroid facial appearance, Delayed pubic bone ossification, Patellar hypoplasia, Aplastic/hypop...	ORPHA:477
Intellectual Developmental Disorder, Autosomal Dominant 26	Short palpebral fissure, Clinodactyly of the 5th finger, Short philtrum, Inguinal hernia, Highly ...	OMIM:615834
Autosomal Dominant Popliteal Pterygium Syndrome	Popliteal pterygium, Finger syndactyly, Non-midline cleft of the upper lip, Scoliosis, Split hand...	ORPHA:1300
Pmp22-Rai1 Contiguous Gene Duplication Syndrome	Bicuspid aortic valve, Sandal gap, Aortic aneurysm, Joint hypermobility, 2-3 toe syndactyly, Pate...	ORPHA:477817
Rhizomelic Syndrome, Urbach Type	Triphalangeal thumb, Rhizomelia, Abnormality of the elbow, Abnormal form of the vertebral bodies,...	ORPHA:3098
Charlie M Syndrome	Thin vermilion border, Triphalangeal thumb, Abnormal metacarpal morphology, Short philtrum, Finge...	ORPHA:1406
Multiple Pterygium-Malignant Hyperthermia Syndrome	Broad alveolar ridges, Pectus excavatum, Kyphosis, Arachnodactyly, Long philtrum, Prominence of t...	ORPHA:2215
Desbuquois Dysplasia 1	Sandal gap, Hyperlordosis, Flat acetabular roof, Kyphosis, Broad femoral neck, Bifid distal phala...	OMIM:251450
Combined Oxidative Phosphorylation Defect Type 39	Congenital foot contractures, Scoliosis, Prominent calcaneus, Open mouth, Ankle clonus, Cryptorch...	ORPHA:565624
Noonan Syndrome 2	Abnormal coronary artery origin, Abnormal sternum morphology, Pectus carinatum, Prominent fingert...	OMIM:605275
Alpha-Mannosidosis	Kyphosis, Splenomegaly, Narrow palate, Craniofacial hyperostosis, Inguinal hernia, Scoliosis, Hip...	ORPHA:61
Pierre Robin Sequence With Pectus Excavatum And Rib And Scapular Anomalies	Pectus excavatum, Abnormal rib morphology, Hypoplastic distal segments of scapulae, Micrognathia,...	OMIM:602196
Mowat-Wilson Syndrome Due To Monosomy 2Q22	Dental crowding, Pectus carinatum, Pectus excavatum, Pulmonic stenosis, Aortic valve stenosis, Ar...	ORPHA:261537
Developmental Delay With Variable Intellectual Disability And Dysmorphic Facies	Microphthalmia, Short philtrum, Joint contracture of the 5th finger, 2-3 toe syndactyly, Exaggera...	OMIM:620098
Noonan Syndrome 12	Decreased response to growth hormone stimulation test, Proximal placement of thumb, 11 pairs of r...	OMIM:618624
Spondyloepimetaphyseal Dysplasia, Irapa Type	Limited elbow extension, Hypoplastic sacrum, Genu valgum, Enlargement of the costochondral juncti...	OMIM:271650
Feingold Syndrome Type 2	Short middle phalanx of finger, Short thumb, Brachydactyly, Jejunal atresia, Toe syndactyly, Vent...	ORPHA:391646
Aase-Smith Syndrome	Abnormal hip bone morphology, Scoliosis, Slender finger, Joint stiffness, Camptodactyly of finger...	ORPHA:916
Feingold Syndrome 2	Short middle phalanx of the 2nd finger, 2-3 toe syndactyly, Short middle phalanx of the 5th finge...	OMIM:614326
Noonan Syndrome	Pectus carinatum, Enlarged thorax, Pectus excavatum, Joint hypermobility, Scoliosis, Pulmonary ar...	ORPHA:648
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia	Aplasia/hypoplasia of the femur, Proximal placement of thumb, Hypoplastic pubic ramus, Dislocated...	OMIM:609945
Orofaciodigital Syndrome Type 2	Cone-shaped epiphyses of the phalanges of the hand, Abnormal oral frenulum morphology, Tongue nod...	ORPHA:2751
Dysautonomia-Like Disorder	Abnormal autonomic nervous system physiology	OMIM:224000
Acrofacial Dysostosis, Palagonia Type	Short 4th metacarpal, High, narrow palate, Supernumerary tooth, Spina bifida occulta, Abnormal fo...	ORPHA:1787
Severe Congenital Nemaline Myopathy	Thin ribs, Multiple prenatal fractures, Pulmonary hypoplasia, Flexion contracture, Dysphagia, Inc...	ORPHA:171430
Digeorge Syndrome	Right aortic arch with mirror image branching, Bifid uvula, Recurrent sinusitis, Splenomegaly, Ab...	OMIM:188400
Cranioectodermal Dysplasia 2	Retrognathia, Portal fibrosis, Short ribs, Cholestasis, Biliary cirrhosis, Everted lower lip verm...	OMIM:613610
Lethal Congenital Contracture Syndrome 1	Widening of cervical spinal canal, Micrognathia, Neonatal death, Pulmonary hypoplasia, Arthrogryp...	OMIM:253310
Dysraphism-Cleft Lip/Palate-Limb Reduction Defects Syndrome	Non-midline cleft of the upper lip, Ectopic anus, Ventricular septal defect, Cleft palate, Aplasi...	ORPHA:2476
Malan Syndrome	Retrognathia, Advanced eruption of teeth, Mandibular prognathia, Gingival overgrowth, Narrow mout...	OMIM:614753
Moebius Syndrome	Radial deviation of finger, Bifid uvula, Syndactyly, Dysphagia, Aplasia/Hypoplasia involving the ...	OMIM:157900
Singleton-Merten Syndrome 1	Aortic arch calcification, Eruption failure, Short dental root, Expanded phalanges with widened m...	OMIM:182250
Basel-Vanagaite-Smirin-Yosef Syndrome	Retrognathia, Pectus carinatum, Everted lower lip vermilion, Kyphosis, Contracture of the proxima...	ORPHA:464738
Tetrasomy 9P	Bilateral single transverse palmar creases, Abnormal number of permanent teeth, Biliary atresia, ...	ORPHA:3310
Short-Rib Thoracic Dysplasia 15 With Polydactyly	Short ribs, Short long bone, Splenomegaly, Accessory oral frenulum, Cone-shaped epiphysis, Aplasi...	OMIM:617088
Wolf-Hirschhorn Syndrome	Abnormal form of the vertebral bodies, Highly arched eyebrow, Kyphosis, Biliary tract abnormality...	OMIM:194190
Insulin-Like Growth Factor I, Resistance To	Retrognathia, Radial deviation of finger, Sandal gap, Highly arched eyebrow, Pectus excavatum, Lo...	OMIM:270450
Otospondylomegaepiphyseal Dysplasia	Sandal gap, Tibial bowing, Glossoptosis, Abnormally ossified vertebrae, Short metacarpal, Bifid u...	ORPHA:1427
Anencephaly 2	Short palpebral fissure, Anophthalmia, Median cleft palate, Cleft maxillary alveolar ridge, Media...	OMIM:619452
Vertebral Anomalies And Variable Endocrine And T-Cell Dysfunction	Narrow palate, Contracture of the proximal interphalangeal joint of the 4th finger, Atrial septal...	OMIM:618223
Marshall Syndrome	Genu valgum, Thick lower lip vermilion, High palate, Abnormality of the dentition, Hypoplastic fr...	ORPHA:560
Meier-Gorlin Syndrome 5	Gastroesophageal reflux, Slender long bone, Prominent metopic ridge, Hypoplasia of the maxilla, C...	OMIM:613805
Congenital Diaphragmatic Hernia	Congenital diaphragmatic hernia, Respiratory distress, Prominent sternum, Intestinal malrotation,...	ORPHA:2140
1P36 Deletion Syndrome	Abnormal intestine morphology, Kyphosis, Joint stiffness, Abnormal eyebrow morphology, Dysphagia,...	ORPHA:1606
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 1	Congenital diaphragmatic hernia, Deep plantar creases, Long philtrum, Anal stenosis, Thin vermili...	OMIM:614080
Cerebrocostomandibular Syndrome	Anomalous rib insertion to vertebrae, Glossoptosis, Short humerus, Thoracic hypoplasia, Long phil...	OMIM:117650
Ossification Anomalies-Psychomotor Developmental Delay Syndrome	Abnormal bone ossification, Generalized bone demineralization, Abnormal form of the vertebral bod...	ORPHA:73230
Meckel Syndrome, Type 2	Polydactyly, Microphthalmia, Postaxial hand polydactyly, Bowing of the long bones, Omphalocele, B...	OMIM:603194
Smith-Lemli-Opitz Syndrome	Cholestatic liver disease, Proximal placement of thumb, Broad alveolar ridges, Dental crowding, D...	OMIM:270400
Restrictive Dermopathy 2	Rectal prolapse, Gastroesophageal reflux, Respiratory distress, Short clavicles, Overtubulated lo...	OMIM:619793
Linear Skin Defects With Multiple Congenital Anomalies 2	Congenital diaphragmatic hernia, Microphthalmia, Sandal gap, Highly arched eyebrow, Ventricular h...	OMIM:300887
Campomelic Dysplasia	Kyphoscoliosis, Absent sternal ossification, Dislocated radial head, Tracheobronchomalacia, Hypop...	OMIM:114290
Hereditary Sensory And Autonomic Neuropathy Type 2	Reduced bone mineral density, Abnormal cortical bone morphology, Abnormal hip bone morphology, Wo...	ORPHA:970
Oculodentodigital Dysplasia	Microphthalmia, Joint contracture of the 5th finger, Broad alveolar ridges, Microdontia, Clinodac...	OMIM:164200
Acrofacial Dysostosis, Cincinnati Type	Retrognathia, Pulmonary artery aneurysm, Cleft anterior mitral valve leaflet, Upper eyelid colobo...	OMIM:616462
Hereditary Persistence Of Fetal Hemoglobin-Sickle Cell Disease Syndrome	Hypochromic microcytic anemia, HbS hemoglobin, Splenic infarction, Persistence of hemoglobin F, R...	ORPHA:251380
Occipital Horn Syndrome	Large iliac wing, Cholestasis, Absent tibia, Kyphosis, Aplasia/hypoplasia of the humerus, Long ph...	ORPHA:198
Cornelia De Lange Syndrome	Bilateral single transverse palmar creases, Congenital diaphragmatic hernia, Proximal placement o...	ORPHA:199
Distal Duplication 6P	Abnormal lung lobation, Thin vermilion border, Sacral dimple, Abnormal eyelash morphology, Narrow...	ORPHA:1745
3Q29 Microduplication Syndrome	Large fontanelles, Microphthalmia, Aniridia, Sandal gap, Craniosynostosis, Ectopic anus, High pal...	ORPHA:251038
Charge Syndrome	Tracheoesophageal fistula, Absent tibia, Pulmonic stenosis, Abnormal palmar dermatoglyphics, Dysp...	OMIM:214800
Meckel Syndrome 14	Pneumothorax, Retrognathia, Talipes, Postaxial hand polydactyly, Bowing of the long bones, Decrea...	OMIM:619879
Intestinal Pseudoobstruction, Neuronal, Chronic Idiopathic, X-Linked	Intestinal pseudo-obstruction, Increased size of the mandible, Congenital shortened small intesti...	OMIM:300048
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
Orofaciodigital Syndrome Ix	Telecanthus, High palate, Abnormality of the dentition, Camptodactyly, Hand polydactyly, Cleft pa...	OMIM:258865
Cleft Lip/Palate	Orofacial cleft, Abnormal number of permanent teeth, Oral-pharyngeal dysphagia, Peg-shaped maxill...	ORPHA:199306
Stormorken Syndrome	Anemia, Short philtrum, Howell-Jolly bodies, Asplenia, Stroke-like episode, Hypoplastic spleen, T...	OMIM:185070
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation	Highly arched eyebrow, Dental crowding, Pectus carinatum, Pectus excavatum, Pulmonic stenosis, Ao...	ORPHA:261552
Pallister-Killian Syndrome	Kyphoscoliosis, Congenital diaphragmatic hernia, Everted lower lip vermilion, Aortic valve stenos...	OMIM:601803
Mowat-Wilson Syndrome	Dental crowding, Pectus carinatum, Everted lower lip vermilion, Pectus excavatum, Pulmonic stenos...	ORPHA:2152
10Q22.3Q23.3 Microduplication Syndrome	Abnormal clavicle morphology, Abnormality of the philtrum, Abnormality of the dentition, Abnormal...	ORPHA:276422
Distal Deletion 9P	High, narrow palate, Enlarged thorax, Abnormality of the dentition, Cleft palate, Epicanthus, Bra...	ORPHA:1642
Stuve-Wiedemann Syndrome 2	Stillbirth, Respiratory distress, Scoliosis, Short long bone, Bowing of the long bones, Camptodac...	OMIM:619751
Myopathy, Centronuclear, X-Linked	High palate, Cryptorchidism, Pyloric stenosis, Arachnodactyly, Flexion contracture, Dental malocc...	OMIM:310400
Cutis Laxa, Autosomal Recessive, Type Iiib	Osteopenia, Thin vermilion border, Excessive wrinkled skin, Inguinal hernia, Elbow flexion contra...	OMIM:614438
Laterality Defects, Autosomal Dominant	Situs inversus totalis, Asplenia	OMIM:601086
Cornelia De Lange Syndrome 4 With Or Without Midline Brain Defects	Bilateral ptosis, Highly arched eyebrow, Pectus carinatum, Intestinal malrotation, Cutis marmorat...	OMIM:614701
Microcephalic Primordial Dwarfism, Montreal Type	Premature graying of hair, Abnormal palate morphology, Lipoatrophy, Reduced bone mineral density,...	ORPHA:2617
Barber-Say Syndrome	Ectropion, Wide mouth, Sparse eyelashes, Lipodystrophy, Thin vermilion border, Clinodactyly of th...	OMIM:209885
Craniodiaphyseal Dysplasia	Diaphyseal undertubulation, Abnormal rib morphology, Craniofacial hyperostosis	ORPHA:1513
Telo2-Related Intellectual Disability-Neurodevelopmental Disorder	Rocker bottom foot, Bilateral single transverse palmar creases, Kyphoscoliosis, Pectus carinatum,...	ORPHA:488642
Braddock-Carey Syndrome 1	U-Shaped upper lip vermilion, Telecanthus, Hyperlordosis, Everted lower lip vermilion, Camptodact...	OMIM:619980
Structural Heart Defects And Renal Anomalies Syndrome	Tricuspid atresia, Cyanosis, Interrupted aortic arch, Right aortic arch, Truncus arteriosus, Deat...	OMIM:617478
Steinfeld Syndrome	Hypoplasia of the ulna, Hypoplasia of the radius, Microphthalmia, Abnormal vertebral morphology, ...	OMIM:184705
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome	Kyphoscoliosis, Broad lateral eyebrow, Arachnodactyly, Abnormal heart morphology, Bifid uvula, Ab...	ORPHA:500150
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly	Death in infancy, Splenomegaly, Alveolar ridge overgrowth, Inguinal hernia, Pancreatic lymphangie...	OMIM:235255
Stevenson-Carey Syndrome	Left superior vena cava draining to coronary sinus, Microphthalmia, Scoliosis, Narrow mouth, Camp...	OMIM:611961
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 4B	Apnea, Pulmonary hypoplasia, Neonatal death	OMIM:615228
Focal Dermal Hypoplasia	Congenital diaphragmatic hernia, Midclavicular aplasia, Short ribs, Short metacarpal, Intestinal ...	OMIM:305600
Hypo- And Hypermelanotic Cutaneous Macules-Retarded Growth-Intellectual Disability Syndrome	Abnormal rib morphology	ORPHA:2435
Neonatal Marfan Syndrome	Lipoatrophy, Pectus carinatum, Enlarged thorax, Arachnodactyly, Hypoxemia, Mitral valve prolapse,...	ORPHA:284979
Craniofacial Dysmorphism, Skeletal Anomalies, And Impaired Intellectual Development Syndrome 2	Pectus excavatum, Shield chest, Thoracic scoliosis, Short neck, Bilateral cleft lip	OMIM:616994
Short-Rib Thoracic Dysplasia 17 With Or Without Polydactyly	Lateral clavicle hook, Narrow chest, Short ribs, Postaxial hand polydactyly, Acetabular spurs, De...	OMIM:617405
Thanatophoric Dysplasia Type 1	Abnormal metaphysis morphology, Excessive wrinkled skin, Patent ductus arteriosus, Narrow chest, ...	ORPHA:1860
Combined Oxidative Phosphorylation Deficiency 8	Death in childhood, Hypertrophic cardiomyopathy, Death in infancy, Neonatal death, Pulmonary hypo...	OMIM:614096
Orofaciodigital Syndrome Type 1	Reduced bone mineral density, Broad alveolar ridges, Accessory oral frenulum, Tongue nodules, Con...	ORPHA:2750
Hypophosphatemic Rickets, X-Linked Dominant	Rickets, Enamel hypomineralization, Hypophosphatemic rickets, Fibular bowing, Genu valgum, Cupped...	OMIM:307800
Eiken Syndrome	Abnormal bone ossification, High iliac wing, Absence of the sacrum, Metaphyseal irregularity, Fib...	ORPHA:79106
Hypothyroidism, Congenital, Nongoitrous, 4	Umbilical hernia, Wide anterior fontanel, Macroglossia, Omphalocele	OMIM:275100
Rhizomelic Chondrodysplasia Punctata, Type 2	Osteopenia, Large fontanelles, Inguinal hernia, Epiphyseal stippling, Optic nerve hypoplasia, Sco...	OMIM:222765
Heme Oxygenase 1 Deficiency	Hepatomegaly, Lymphadenopathy, Asplenia, Chemosis, Coombs-positive hemolytic anemia, Thrombocytos...	OMIM:614034
Spinal Muscular Atrophy With Congenital Bone Fractures 2	Patent foramen ovale, Multiple prenatal fractures, Pulmonary hypoplasia, Flexion contracture, Dys...	OMIM:616867
Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities	Absent extraocular muscles, Telecanthus, Abnormality of the vertebral column, Hypoplasia of the m...	OMIM:109120
Dyggve-Melchior-Clausen Disease	Abnormal hip bone morphology, Abnormal femoral head morphology, Pectus carinatum, Short long bone...	ORPHA:239
Charge Syndrome	Highly arched eyebrow, Tracheoesophageal fistula, Dysphagia, Umbilical hernia, Bifid femur, Abnor...	ORPHA:138
Spondylometaepiphyseal Dysplasia, Short Limb-Hand Type	Pectus carinatum, Triangular shaped distal phalanges of the hand, Short ribs, Short long bone, Sh...	OMIM:271665
Coffin-Siris Syndrome 6	Kyphoscoliosis, Narrow palpebral fissure, High, narrow palate, Short philtrum, Downslanted palpeb...	OMIM:617808
Houge-Janssens Syndrome 1	Scoliosis, Congenital hip dislocation, Pyloric stenosis, Ptosis, Downslanted palpebral fissures, ...	OMIM:616355
Yunis-Varon Syndrome	Bilateral single transverse palmar creases, Absent sternal ossification, Broad alveolar ridges, C...	OMIM:216340
Mucopolysaccharidosis, Type Vii	Narrow greater sciatic notch, Pectus carinatum, Cardiomyopathy, Large iliac wing, Pectus excavatu...	OMIM:253220
Coffin-Siris Syndrome 3	Inguinal hernia, Central diaphragmatic hernia, Joint hypermobility, Scoliosis, High palate, Long ...	OMIM:614608
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects	Congenital diaphragmatic hernia, Multiple joint dislocation, Sandal gap, Enlarged metaphyses, Dis...	OMIM:245600
Hypomandibular Faciocranial Dysostosis	Coronal craniosynostosis, Hypoplasia of the maxilla, Micrognathia, Malar flattening, Patent ductu...	OMIM:241310
Chromosome 19Q13.11 Deletion Syndrome, Proximal	Vascular dilatation, Clinodactyly of the 5th finger, Pyloric stenosis, Hip dysplasia, Tapered fin...	OMIM:617219
Fibrous Dysplasia Of Bone	Abnormal femur morphology, Ovarian cyst, Pathologic fracture, Osteolysis, Rickets, Abnormal clavi...	ORPHA:249
Genitopalatocardiac Syndrome	Congenital diaphragmatic hernia, Abnormality of the gallbladder, Non-midline cleft of the upper l...	ORPHA:2075
Microcephaly-Microcornea Syndrome, Seemanova Type	Microphthalmia, Narrow mouth, High palate, Epicanthus, Upslanted palpebral fissure	ORPHA:2528
Potocki-Shaffer Syndrome	Short philtrum, Telecanthus, Sparse lateral eyebrow, 2-5 finger cutaneous syndactyly, Downturned ...	OMIM:601224
Thrombocytopenia-Absent Radius Syndrome	Meckel diverticulum, Femoral bowing, Death in infancy, Broad thumb, Bilateral radial aplasia, Abs...	OMIM:274000
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Hypermethylation	Diastasis recti, Omphalocele, Coat hanger sign of ribs, Abnormal heart morphology, Umbilical hern...	ORPHA:254534
Hennekam Lymphangiectasia-Lymphedema Syndrome 1	Bilateral single transverse palmar creases, Retrognathia, Hypoplastic iliac wing, Pectus excavatu...	OMIM:235510
Spondyloepiphyseal Dysplasia, Maroteaux Type	Kyphoscoliosis, Genu valgum, Pectus carinatum, Generalized osteoporosis, Short palm, Shield chest...	OMIM:184095
Developmental Delay With Variable Neurologic And Brain Abnormalities	Microphthalmia, Widely spaced teeth, Cubitus valgus, Camptodactyly, Microdontia, Sparse lateral e...	OMIM:619694
Hurler Syndrome	Cardiomyopathy, Everted lower lip vermilion, Death in infancy, Splenomegaly, Abnormal epiphysis m...	ORPHA:93473
Ulnar-Mammary Syndrome	Stiff elbow, Aplasia of the 4th metacarpal, Short humerus, Absent radius, Aplasia of the 3rd meta...	OMIM:181450
Meckel Syndrome	Situs inversus totalis, Talipes, Accessory spleen, Postaxial hand polydactyly, Furrowed tongue, B...	ORPHA:564
Spondyloperipheral Dysplasia-Short Ulna Syndrome	Hypoplasia of the ulna, Limited elbow extension, Type E brachydactyly, Irregular epiphyses, Delay...	ORPHA:1856
Florid Cemento-Osseous Dysplasia	Supernumerary tooth, Multiple bony cystic lesions, Atrophy of alveolar ridges, Abnormality of pri...	ORPHA:83451
Hypocalcemic Vitamin D-Resistant Rickets	Abnormal metaphysis morphology, Genu valgum, Abnormal hip bone morphology, Abnormal adipose tissu...	ORPHA:93160
Ulbright-Hodes Syndrome	Short ribs, Short metacarpal, Short humerus, Abnormal forearm bone morphology, Mesomelia, Hypopla...	ORPHA:3404
Spondylo-Ocular Syndrome	Thin vermilion border, Microphthalmia, Platyspondyly, Abnormal intervertebral disk morphology, Jo...	ORPHA:85194
Lymphedema-Distichiasis Syndrome	Ectropion, Microphthalmia, Kyphosis, Distichiasis, Cleft upper lip, Conjunctivitis, Cleft palate,...	OMIM:153400
Degcags Syndrome	Premature graying of hair, Retrognathia, Cholestasis, Abnormal spleen morphology, Pulmonic stenos...	OMIM:619488
Cardiofaciocutaneous Syndrome 1	Pectus carinatum, Pectus excavatum, Pulmonic stenosis, Splenomegaly, Palpebral thickening, Deep p...	OMIM:115150
Schaaf-Yang Syndrome	Rocker bottom foot, Short palpebral fissure, Retrognathia, Gastroesophageal reflux, Mandibular pr...	OMIM:615547
Hypogonadotropic Hypogonadism 3 With Or Without Anosmia	Pectus excavatum, Cryptorchidism, Cleft upper lip, Cleft palate, Pes planus, Finger joint hypermo...	OMIM:244200
Neurodevelopmental Disorder With Intracranial Hemorrhage, Seizures, And Spasticity	Retinal arterial tortuosity, Highly arched eyebrow, Everted lower lip vermilion, Pectus excavatum...	OMIM:620371
Arthrogryposis And Ectodermal Dysplasia	Kyphoscoliosis, Trichiasis, Orofacial cleft, Entropion, Abnormal dental enamel morphology, Oligod...	OMIM:601701
Auriculocondylar Syndrome 2B	Telecanthus, Mandibular condyle hypoplasia, Narrow mouth, Omphalocele, Synophrys, Limbal dermoid,...	OMIM:620458
Renal Tubular Dysgenesis	Joint hypermobility, Bilateral single transverse palmar creases, Pulmonary hypoplasia, Tetralogy ...	ORPHA:3033
Cerebrooculofacioskeletal Syndrome 1	Rocker bottom foot, Kyphoscoliosis, Long philtrum, Coxa valga, Elbow flexion contracture, Camptod...	OMIM:214150
Acrocapitofemoral Dysplasia	Cone-shaped epiphyses of the phalanges of the hand, Hypoplastic iliac wing, Delayed ossification ...	OMIM:607778
Holoprosencephaly-Postaxial Polydactyly Syndrome	Abnormal lung lobation, Orofacial cleft, Talipes, Postaxial hand polydactyly, Narrow mouth, Anal ...	ORPHA:2166
Chromosome 20Q11-Q12 Deletion Syndrome	Short philtrum, Tarsal osteovalgus, Camptodactyly, Brachydactyly, Adducted thumb, Finger clinodac...	OMIM:614257
Kury-Isidor Syndrome	Rocker bottom foot, Widely spaced teeth, Sacral dimple, Proximal placement of thumb, Triangular m...	OMIM:619762
Osteogenesis Imperfecta, Type Xxii	Reduced bone mineral density, Slender long bone, Bowing of the long bones, Multiple small vertebr...	OMIM:619795
Microcephaly-Facial Dysmorphism-Ocular Anomalies-Multiple Congenital Anomalies Syndrome	Short philtrum, Abnormality of the palmar creases, Mandibular prognathia, Thyroid hypoplasia, Cal...	ORPHA:521445
Orofaciodigital Syndrome Type 4	Retrognathia, Abnormal oral frenulum morphology, Bifid uvula, Genu varum, Joint dislocation, Shor...	ORPHA:2753
Schisis Association	Congenital diaphragmatic hernia, Tracheoesophageal fistula, Anal atresia, Micromelia, Omphalocele...	ORPHA:63862
Spondyloepimetaphyseal Dysplasia, Krakow Type	Metaphyseal irregularity, Annular pancreas, Delayed pubic bone ossification, Irregular epiphyses,...	OMIM:618162
1Q41Q42 Microdeletion Syndrome	Congenital diaphragmatic hernia, Hyposegmentation of neutrophil nuclei, Cleft palate, Pulmonary h...	ORPHA:250999
Cardiac, Facial, And Digital Anomalies With Developmental Delay	Radial deviation of finger, Sandal gap, Aortic valve stenosis, Syndactyly, Umbilical hernia, Bicu...	OMIM:618164
Coffin-Lowry Syndrome	Highly arched eyebrow, Pectus carinatum, Short metacarpal, Everted lower lip vermilion, Pectus ex...	OMIM:303600
Short-Rib Thoracic Dysplasia 14 With Polydactyly	Congenital diaphragmatic hernia, Preaxial polydactyly, Narrow chest, Accessory oral frenulum, Sho...	OMIM:616546
Early-Onset Seizures-Distal Limb Anomalies-Facial Dysmorphism-Global Developmental Delay Syndrome	Retrognathia, Highly arched eyebrow, Broad thumb, Arachnodactyly, Long philtrum, Overlapping toe,...	ORPHA:505237
Xy Type Gonadal Dysgenesis-Associated Anomalies Syndrome	Bilateral single transverse palmar creases, Non-midline cleft of the upper lip, Abnormality of th...	ORPHA:1770
Maternal Phenylketonuria	Bilateral ptosis, Esophageal atresia, High palate, Coarctation of aorta, Bifid distal phalanx of ...	ORPHA:2209
Joubert Syndrome 18	Kyphoscoliosis, Retrognathia, Intrahepatic biliary atresia, Bowing of the long bones, Camptodacty...	OMIM:614815
Congenital Heart Defects, Multiple Types, 5	Aortic valve stenosis, Tetralogy of Fallot, Bicuspid aortic valve, Atrial septal defect, Ventricu...	OMIM:617912
Non-Eruption Of Teeth-Maxillary Hypoplasia-Genu Valgum Syndrome	Genu valgum, Delayed eruption of teeth, Maxillozygomatic hypoplasia, Abnormal dental morphology, ...	ORPHA:2972
Cornelia De Lange Syndrome 3 With Or Without Midline Brain Defects	Limited elbow movement, Proximal placement of thumb, Highly arched eyebrow, Microdontia, Pulmonic...	OMIM:610759
Cleft Lip/Palate-Ectodermal Dysplasia Syndrome	Palmoplantar hyperkeratosis, Hypodontia, Abnormality of the philtrum, Ectodermal dysplasia, Micro...	OMIM:225060
Aspergillosis	Hypersensitivity pneumonitis, Abnormal long bone morphology, Pleuritis, Abnormality of the verteb...	ORPHA:1163
Mucopolysaccharidosis, Type Iiic	Kyphoscoliosis, Beaking of vertebral bodies, Hepatomegaly, Dense calvaria, Everted lower lip verm...	OMIM:252930
Char Syndrome	Clinodactyly of the 5th finger, Triangular mouth, Short philtrum, Symphalangism of the 5th finger...	ORPHA:46627
Wieacker-Wolff Syndrome, Female-Restricted	Rocker bottom foot, U-Shaped upper lip vermilion, Narrow chest, Radial deviation of the hand, Sco...	OMIM:301041
Acromesomelic Dysplasia 4	Sandal gap, Short metacarpal, Mesomelia, Metaphyseal irregularity, Prominent deltoid tuberosities...	OMIM:619636
Spondylocostal Dysostosis 3, Autosomal Recessive	Supernumerary vertebral ossification centers, Scoliosis, Vertebral segmentation defect, Kyphosis,...	OMIM:609813
Intellectual Developmental Disorder With Speech Delay And Dysmorphic Facies	Rocker bottom foot, Clinodactyly of the 5th finger, Exaggerated cupid's bow, Wide mouth, Thick ve...	OMIM:618506
Li-Campeau Syndrome	Patellar hypoplasia, Telecanthus, Single transverse palmar crease, Patent foramen ovale, Cryptorc...	OMIM:619189
Okamoto Syndrome	Aortic valve stenosis, Abnormal mitral valve morphology, Intestinal malrotation, Abnormal heart m...	ORPHA:2729
Neurodevelopmental Disorder With Dysmorphic Facies And Skeletal And Brain Abnormalities	Clinodactyly of the 2nd finger, Broad thumb, Coxa valga, Scoliosis, Narrow vertebral interpedicul...	OMIM:620073
Aphalangy-Hemivertebrae-Urogenital-Intestinal Dysgenesis Syndrome	Abnormal metacarpal morphology, Asymmetry of the thorax, Finger syndactyly, Aplasia/Hypoplasia of...	ORPHA:1112
Omodysplasia 2	Fibular hypoplasia, Limited elbow flexion/extension, Clinodactyly of the 5th finger, Gastroesopha...	OMIM:164745
Chromosome 6Q11-Q14 Deletion Syndrome	Pes cavus, Long philtrum, Sacral dimple, Inguinal hernia, Single transverse palmar crease, High p...	OMIM:613544
Non-Syndromic Metopic Craniosynostosis	Synophrys, Omphalocele	ORPHA:3366
Acrofrontofacionasal Dysostosis 1	S-shaped palpebral fissures, Acetabular dysplasia, Mandibular prognathia, Oligodontia, Long eyebr...	OMIM:201180
Hajdu-Cheney Syndrome	Kyphoscoliosis, Dislocated radial head, Intestinal malrotation, Biconcave vertebral bodies, Crowd...	OMIM:102500
Corpus Callosum, Agenesis Of, With Facial Anomalies And Robin Sequence	Proximal placement of thumb, Cardiomyopathy, Syndactyly, Hernia, Clinodactyly, Abnormal cardiac s...	OMIM:217980
Osteopathia Striata-Cranial Sclerosis Syndrome	Abnormal metaphysis morphology, High, narrow palate, Large fontanelles, Osteopetrosis, Spina bifi...	ORPHA:2780
Intellectual Developmental Disorder, Autosomal Recessive 68	Narrow palpebral fissure, Broad eyebrow, Synophrys, Hypoplasia of the maxilla, Pes planus	OMIM:618302
Aicardi Syndrome	Butterfly vertebrae, Proximal placement of thumb, Lipoma, Scoliosis, Hemivertebrae, Missing ribs,...	OMIM:304050
Cole-Carpenter Syndrome	Abnormal metaphysis morphology, Crumpled long bones, Delayed eruption of teeth, Abnormal form of ...	ORPHA:2050
Joubert Syndrome 30	Dandy-Walker malformation, Polymicrogyria, Cerebellar atrophy, Gray matter heterotopia, Agenesis ...	OMIM:617622
Multiple Epiphyseal Dysplasia Type 4	Skewfoot, Stiff ankle, Short metacarpal, Joint stiffness, Broad femoral neck, Abnormal forearm bo...	ORPHA:93307
19P13.3 Microduplication Syndrome	Kyphoscoliosis, Pes cavus, Hip subluxation, Telecanthus, Short philtrum, Gastroesophageal reflux,...	ORPHA:447980
Arthrogryposis, Distal, Type 1B	Rocker bottom foot, Foot joint contracture, Camptodactyly, Distal arthrogryposis, Arthrogryposis ...	OMIM:614335
Parietal Foramina 1	Wormian bones, Cleft upper lip, Cleft palate	OMIM:168500
Tarp Syndrome	Rocker bottom foot, Meckel diverticulum, Glossoptosis, Pectus excavatum, Tongue nodules, Clinodac...	OMIM:311900
Down Syndrome	Sandal gap, Hypoplastic iliac wing, Joint hypermobility, Clinodactyly, Aganglionic megacolon, Pat...	OMIM:190685
Acrofrontofacionasal Dysostosis	Non-midline cleft of the upper lip, High palate, Everted lower lip vermilion, Micromelia, Broad t...	ORPHA:1784
Orofaciodigital Syndrome I	Radial deviation of finger, Abnormal heart morphology, Ovarian cyst, Syndactyly, Tongue nodules, ...	OMIM:311200
Alagille Syndrome	Hypoplasia of the ulna, Hepatomegaly, Clinodactyly of the 5th finger, Short philtrum, Abnormal fo...	ORPHA:52
Otospondylomegaepiphyseal Dysplasia, Autosomal Dominant	Enlarged epiphyses, Epiphyseal dysplasia, Pierre-Robin sequence, Cleft palate, Platyspondyly, Pre...	OMIM:184840
Basel-Vanagaite-Smirin-Yosef Syndrome	Retrognathia, Short philtrum, Gastroesophageal reflux, Inguinal hernia, Single transverse palmar ...	OMIM:616449
Spinal Muscular Atrophy With Congenital Bone Fractures 1	Patent foramen ovale, Cardiomyopathy, High palate, Narrow mouth, Multiple prenatal fractures, Sec...	OMIM:616866
Fraser Syndrome	Anorectal anomaly, Dental crowding, Death in infancy, Lacrimal duct aplasia, Umbilical hernia, Cr...	ORPHA:2052
Postsynaptic Congenital Myasthenic Syndromes	Scoliosis, Thoracic kyphoscoliosis, High palate, Triceps weakness, Abnormality of the musculature...	ORPHA:98913
Trichorhinophalangeal Syndrome Type 1	Supernumerary tooth, Long philtrum, Clinodactyly of the 5th finger, Short metatarsal, Pectus cari...	ORPHA:77258
Baraitser-Winter Syndrome 2	Orofacial cleft, Microphthalmia, Telecanthus, Highly arched eyebrow, Long palpebral fissure, Ptos...	OMIM:614583
Neurogenic Arthrogryposis Multiplex Congenita	Rocker bottom foot, Equinovarus deformity, Ankle flexion contracture, Respiratory distress, Scoli...	ORPHA:1143
Warburg Micro Syndrome 1	Kyphoscoliosis, Thin vermilion border, Microphthalmia, Narrow mouth, Osteoporosis, Ptosis, Joint ...	OMIM:600118
Chromosome 16P13.3 Duplication Syndrome	Rocker bottom foot, Proximal placement of thumb, Sandal gap, Tracheobronchomalacia, Pectus excava...	OMIM:613458
Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Impaired Intellectual Development, And Ear Anomalies Syndrome	Highly arched eyebrow, Broad 2nd toe, Everted lower lip vermilion, Wide mouth, Umbilical hernia, ...	OMIM:280000
Frontonasal Dysplasia-Severe Microphthalmia-Severe Facial Clefting Syndrome	Tessier cleft, Pectoral muscle hypoplasia/aplasia, Pericallosal lipoma, Hypoplasia of the frontal...	ORPHA:306542
Joubert Syndrome 23	Dysplastic corpus callosum, Cerebellar dysplasia	OMIM:616490
German Syndrome	Orofacial cleft, High palate, Everted lower lip vermilion, Limitation of joint mobility, Synophry...	ORPHA:2077
Crouzon Syndrome	Lambdoidal craniosynostosis, Dental crowding, Mandibular prognathia, High palate, Shallow orbits,...	OMIM:123500
Ehlers-Danlos Syndrome, Dermatosparaxis Type	Gingival hyperkeratosis, Everted lower lip vermilion, Blepharochalasis, Joint hypermobility, Umbi...	OMIM:225410
Dysplastic Cortical Hyperostosis, Kozlowski-Tsuruta Type	Hepatomegaly, Abnormal cortical bone morphology, Increased bone mineral density, Aplasia/Hypoplas...	ORPHA:2204
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 1	Microdontia, Split foot, Decreased response to growth hormone stimulation test, Inguinal hernia, ...	OMIM:129900
Thrombocytopenia-Absent Radius Syndrome	Broad thumb, Aplasia/hypoplasia of the humerus, Cervical ribs, Absent radius, Adducted thumb, Pat...	ORPHA:3320
Intellectual Developmental Disorder, X-Linked, Syndromic, Snijders Blok Type	Dysplastic pulmonary valve, Scoliosis, Cleft upper lip, Bifid uvula, Cleft palate	OMIM:300958
Cole-Carpenter Syndrome 2	Osteopenia, Lambdoidal craniosynostosis, Narrow iliac wing, Thin ribs, High palate, Wormian bones...	OMIM:616294
6Q25 Microdeletion Syndrome	Rocker bottom foot, Clinodactyly of the 5th finger, High palate, Camptodactyly of finger, Downsla...	ORPHA:251056
Arthrogryposis, Distal, Type 12	Spinal rigidity, Agenesis of maxillary incisor, Dental crowding, Congenital finger flexion contra...	OMIM:620545
Postaxial Acrofacial Dysostosis	Hypoplasia of the ulna, Hypoplasia of the radius, Finger syndactyly, Non-midline cleft of the upp...	ORPHA:246
Antley-Bixler Syndrome	Talipes, Narrow chest, Delayed cranial suture closure, Femoral bowing, Narrow mouth, Abnormal rib...	ORPHA:83
Microphthalmia, Lenz Type	Abnormal clavicle morphology, Orofacial cleft, Abnormal shoulder morphology, Clinodactyly of the ...	ORPHA:568
Spondylocostal Dysostosis With Anal Atresia And Urogenital Anomalies	Inguinal hernia, Thin ribs, Short ribs, Scoliosis, Hemivertebrae, Anal atresia, Missing ribs, Blo...	OMIM:271520
Arboleda-Tham Syndrome	Sandal gap, Highly arched eyebrow, Pectus excavatum, Pulmonic stenosis, Intestinal malrotation, U...	OMIM:616268
Hamamy Syndrome	Everted lower lip vermilion, Pectus excavatum, Wide mouth, Syndactyly, Long philtrum, Craniosynos...	OMIM:611174
3Mc Syndrome 3	Tessier cleft, Preaxial polydactyly, Sacral dimple, Highly arched eyebrow, Blepharophimosis, Dias...	OMIM:248340
Thanatophoric Dysplasia Type 2	Abnormal metaphysis morphology, Platyspondyly, Narrow chest, Short thorax, Limitation of joint mo...	ORPHA:93274
Hao-Fountain Syndrome	Large fontanelles, Hallux valgus, Clinodactyly of the 5th finger, Delayed cranial suture closure	OMIM:616863
Chondrodysplasia, Blomstrand Type	Stillbirth, Abnormal vertebral morphology, Narrow chest, Flared metaphysis, Squared iliac bones, ...	OMIM:215045
Spastic Paraplegia 16, X-Linked	Short distal phalanx of finger, Hypoplasia of the maxilla	OMIM:300266
Autosomal Dominant Otospondylomegaepiphyseal Dysplasia	Abnormal metacarpal morphology, Pectus carinatum, Glossoptosis, Pectus excavatum, Micrognathia, C...	ORPHA:166100
Craniodiaphyseal Dysplasia, Autosomal Dominant	Craniofacial hyperostosis, Diaphyseal sclerosis, Mandibular prognathia, Cortical sclerosis, Death...	OMIM:122860
Lateral Meningocele Syndrome	Dental crowding, Pectus excavatum, Kyphosis, Biconcave vertebral bodies, Umbilical hernia, Bicusp...	OMIM:130720
Neurodevelopmental Disorder With Short Stature, Prominent Forehead, And Feeding Difficulties	Rocker bottom foot, Gastroesophageal reflux, Aortic aneurysm, High palate, Multiple muscular vent...	OMIM:620070
Müllerian Aplasia And Hyperandrogenism	Cubitus valgus, Short philtrum, Abnormality of the ovary, Synophrys, Shield chest, Cleft palate, ...	ORPHA:247768
Hypophosphatasia	Abnormal metaphysis morphology, Anemia, Emphysema, Narrow chest, Bowing of the long bones, Abnorm...	ORPHA:436
Sifrim-Hitz-Weiss Syndrome	Short palpebral fissure, Fused cervical vertebrae, Short clavicles, Wormian bones, Flat acetabula...	OMIM:617159
Microphthalmia, Syndromic 2	Microphthalmia, Sandal gap, Pulmonic stenosis, Aortic valve stenosis, Bifid uvula, Mitral valve p...	OMIM:300166
Trisomy 8P	Clinodactyly of the 5th toe, Retrognathia, Clinodactyly of the 2nd finger, Bifid uvula, Malrotati...	ORPHA:264450
Intellectual Disability-Myopathy-Short Stature-Endocrine Defect Syndrome	Abnormal palate morphology, Clinodactyly of the 5th finger, Abnormal hip bone morphology, Craniof...	ORPHA:3068
Atelosteogenesis, Type I	Clubbing, Tibial bowing, Short metacarpal, Short humerus, Thoracic hypoplasia, Thoracic platyspon...	OMIM:108720
Methylmalonic Aciduria And Homocystinuria, Cblj Type	Bell-shaped thorax, Normochromic anemia, Gastroesophageal reflux, Inguinal hernia, Cryptorchidism...	OMIM:614857
Floating-Harbor Syndrome	Kyphoscoliosis, Mesocardia, Dislocated radial head, Short metacarpal, Microdontia, Wide mouth, Cl...	ORPHA:2044
Fibrochondrogenesis 2	Bell-shaped thorax, Metaphyseal cupping, Hypoplastic pubic bone, Short long bone, Short ribs, Cup...	OMIM:614524
Oculoauriculovertebral Spectrum With Radial Defects	Short mandibular rami, Orofacial cleft, Atrioventricular canal defect, Triphalangeal thumb, Aplas...	ORPHA:2549
Spondyloepimetaphyseal Dysplasia, Borochowitz-Cormier-Daire Type	Limited elbow extension, Narrow greater sciatic notch, Irregular epiphyses, Dysplastic iliac wing...	OMIM:608728
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly	Lateral clavicle hook, Orofacial cleft, Hepatomegaly, Genu valgum, Bell-shaped thorax, Cone-shape...	OMIM:615630
Omphalocele	Omphalocele	ORPHA:660
Orofacial Cleft 15	Inguinal hernia, Palate fistula, Bilateral cleft palate, Euryblepharon, Upslanted palpebral fissu...	OMIM:616788
Craniofacial Microsomia 1	Upper eyelid coloboma, Wide mouth, Cervical ribs, Maxillozygomatic hypoplasia, Scoliosis, Hemiver...	OMIM:164210
Growth Retardation, Developmental Delay, And Facial Dysmorphism	Retrognathia, Thin vermilion border, Death in childhood, Hypertrophic cardiomyopathy, Protruding ...	OMIM:612938
Heyn-Sproul-Jackson Syndrome	11 pairs of ribs, Broad metacarpals, Short metacarpal, Short phalanx of finger, Broad phalanx, Ep...	OMIM:618724
Neurodevelopmental Disorder With Hypotonia, Facial Dysmorphism, And Brain Abnormalities	Hepatomegaly, Telecanthus, Respiratory distress, Recurrent respiratory infections, Pectus carinat...	OMIM:619383
Asbestos Intoxication	Abnormal pulmonary interstitial morphology, Pleural thickening, Mediastinal lymphadenopathy, Atel...	ORPHA:2302
Xylt1-Cdg	Long philtrum, Hepatomegaly, Joint dislocation, Flared metaphysis, Short clavicles, Short long bo...	ORPHA:370930
Codas Syndrome	Delayed eruption of teeth, Abnormal form of the vertebral bodies, Abnormal dental enamel morpholo...	ORPHA:1458
Chromosome 8Q22.1 Duplication Syndrome	Cervical C2/C3 vertebral fusion, Short metacarpal, Joint stiffness, Broad thumb, Interphalangeal ...	OMIM:151200
Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency	Abnormal heart morphology, Wide mouth, Syndactyly, Umbilical hernia, Clinodactyly, Abnormality of...	ORPHA:369891
Seckel Syndrome 5	Retrognathia, Clinodactyly of the 5th finger, 11 pairs of ribs, Oligodontia, Selective tooth agen...	OMIM:613823
Multiple Osteochondromas	Intestinal obstruction, Abnormal femur morphology, Limitation of knee mobility, Deformed forearm ...	ORPHA:321
Infantile-Onset X-Linked Spinal Muscular Atrophy	Kyphoscoliosis, Ankle flexion contracture, Respiratory distress, Elbow flexion contracture, High ...	ORPHA:1145
Asplenia, Isolated Congenital	Howell-Jolly bodies, Thrombocytosis, Asplenia	OMIM:271400
Chromosome 16Q22 Deletion Syndrome	Short palpebral fissure, Highly arched eyebrow, Wide anterior fontanel, High palate, Prominent me...	OMIM:614541
Kaposiform Lymphangiomatosis	Abnormal femur morphology, Abnormal form of the vertebral bodies, Abnormal spleen morphology, Lym...	ORPHA:464329
Osteogenesis Imperfecta, Type Xii	Delayed eruption of teeth, Hyperextensibility of the finger joints, Scoliosis, Hypermobility of i...	OMIM:613849
Congenitally Uncorrected Transposition Of The Great Arteries	Abnormal aortic arch morphology, Abnormal mitral valve morphology, Hypoxemia, Cardiomegaly, Levot...	ORPHA:860
Catifa Syndrome	Inguinal hernia, Delayed eruption of teeth, Tooth malposition, Increased overbite, Camptodactyly,...	OMIM:618761
Orofacial Cleft 14	Median cleft upper lip	OMIM:615892
Lateral Meningocele Syndrome	Abnormal form of the vertebral bodies, Dental crowding, Hyperlordosis, Pectus excavatum, Kyphosis...	ORPHA:2789
Arthrochalasia Ehlers-Danlos Syndrome	Retrognathia, Scarring, Joint dislocation, Inguinal hernia, Scoliosis, Femoral hernia, Coxa vara,...	ORPHA:1899
Pulmonary Hypoplasia, Primary	Neonatal death, Pulmonary hypoplasia	OMIM:265430
Arterial Tortuosity Syndrome	Congenital diaphragmatic hernia, Pectus carinatum, Ventricular hypertrophy, Aortic tortuosity, Pe...	OMIM:208050
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 1	Retrognathia, Clinodactyly of the 5th finger, Oligodactyly, Umbilical hernia, Ptosis, Secundum at...	OMIM:619758
Chromosome 1P36 Deletion Syndrome, Distal	Bifid uvula, Dysphagia, Abnormality of the anus, Bicuspid aortic valve, Short 5th finger, Long ph...	OMIM:607872
Galloway-Mowat Syndrome 7	Kyphoscoliosis, Cubitus valgus, Hallux valgus, Single transverse palmar crease, High palate, Pect...	OMIM:618348
16P13.11 Microduplication Syndrome	Transposition of the great arteries, Arachnodactyly, Hand polydactyly, Coarctation of aorta, Tetr...	ORPHA:261243
8Q12 Microduplication Syndrome	Telecanthus, Gastroesophageal reflux, Highly arched eyebrow, Narrow mouth, Everted lower lip verm...	ORPHA:228399
Ruvalcaba Syndrome	Proximal placement of thumb, Dental crowding, Pectus carinatum, Short metacarpal, Kyphosis, Cone-...	ORPHA:3121
Noonan Syndrome 1	Kyphoscoliosis, Radial deviation of finger, Superior pectus carinatum, Abnormal sternum morpholog...	OMIM:163950
Osteogenesis Imperfecta, Type Iii	Slender long bone, Wide anterior fontanel, Thin ribs, Tibial bowing, Scoliosis, Kyphosis, Biconca...	OMIM:259420
Neurodevelopmental Disorder With Cataracts, Poor Growth, And Dysmorphic Facies	Narrow palpebral fissure, Microphthalmia, Scoliosis, Horizontal eyebrow, Short neck, Downturned c...	OMIM:618571
Cdags Syndrome	Rectourethral fistula, Ectropion, Large fontanelles, Lambdoidal craniosynostosis, Rectovaginal fi...	OMIM:603116
Turner Syndrome Due To Structural X Chromosome Anomalies	Cholestatic liver disease, Retrognathia, Reduced bone mineral density, Enlarged thorax, Biliary c...	ORPHA:99413
Mosaic Monosomy X	Cholestatic liver disease, Retrognathia, Reduced bone mineral density, Enlarged thorax, Biliary c...	ORPHA:99228
Monosomy X	Cholestatic liver disease, Retrognathia, Reduced bone mineral density, Enlarged thorax, Biliary c...	ORPHA:99226
Turner Syndrome	Cholestatic liver disease, Retrognathia, Reduced bone mineral density, Enlarged thorax, Biliary c...	ORPHA:881
Mucopolysaccharidosis, Type Iiia	Hepatomegaly, Dense calvaria, Inguinal hernia, Scoliosis, Asymmetric septal hypertrophy, Joint st...	OMIM:252900
Short-Rib Thoracic Dysplasia 11 With Or Without Polydactyly	Lateral clavicle hook, Bell-shaped thorax, Narrow chest, Short long bone, Cryptorchidism, Postaxi...	OMIM:615633
Lipodystrophy, Congenital Generalized, Type 4	Osteopenia, Spinal rigidity, Hepatomegaly, Vascular dilatation, Ileus, Scoliosis, Hyperlordosis, ...	OMIM:613327
Gastrointestinal Defects And Immunodeficiency Syndrome 2	Rectovaginal fistula, Lymphopenia, Kyphosis, Bilateral talipes equinovarus, Inflammation of the l...	OMIM:619708
Neurodevelopmental Disorder With Central Hypotonia And Dysmorphic Facies	Thick lower lip vermilion, Widely spaced teeth, Delayed eruption of teeth, Hyperextensibility of ...	OMIM:619797
Eiken Syndrome	Delayed ossification of carpal bones, Eruption failure, Flat acetabular roof, Broad metatarsal, M...	OMIM:600002
Caudal Duplication	Intestinal duplication, Bifid sacrum, Vertebral segmentation defect, Omphalocele, Abnormal sacrum...	ORPHA:1756
Leukodystrophy, Hypomyelinating, 26, With Chondrodysplasia	Small epiphyses, Joint hypermobility, Scoliosis, Short long bone, Glossoptosis, Lumbar scoliosis,...	OMIM:620269
Acropectorovertebral Dysplasia	High, narrow palate, Tarsal synostosis, Triphalangeal thumb, Finger syndactyly, Synostosis of car...	ORPHA:957
De Barsy Syndrome	Kyphoscoliosis, Pectus excavatum, Umbilical hernia, Small, conical teeth, Adducted thumb, Talipes...	ORPHA:2962
Griscelli Syndrome	Premature graying of hair, Jaundice, Hepatomegaly, Lymphadenopathy, Abnormal eyelash morphology, ...	ORPHA:381
Microtriplication 11Q24.1	Genu valgum, Clinodactyly of the 5th finger, Short philtrum, Joint dislocation, Scoliosis, Limita...	ORPHA:289522
Musculocontractural Ehlers-Danlos Syndrome	Kyphoscoliosis, Recurrent joint dislocation, Abnormal sternum morphology, Abnormal heart morpholo...	ORPHA:2953
Chondrodysplasia With Joint Dislocations, Gpapp Type	Irregular epiphyses of the metacarpals, Short long bone, Short metacarpal, Patellar dislocation, ...	OMIM:614078
Frontometaphyseal Dysplasia	Limited elbow movement, Limitation of knee mobility, Dislocated radial head, Wrist flexion contra...	ORPHA:1826
Dextrocardia	Abnormal lung lobation, Situs inversus totalis, Abnormal foot morphology, Dextrocardia, Meckel di...	ORPHA:1666
X-Linked Hypophosphatemia	Reduced bone mineral density, Flared iliac wing, Abnormal epiphysis morphology, Craniosynostosis,...	ORPHA:89936
Tricuspid Atresia	Hypoplasia of right ventricle, Transposition of the great arteries, Tricuspid atresia, Cyanosis, ...	ORPHA:1209
Trichorhinophalangeal Syndrome, Type Iii	Osteopenia, Short finger, Cone-shaped epiphyses of the middle phalanges of the hand, Supernumerar...	OMIM:190351
Aminopterin/Methotrexate Embryofetopathy	Situs inversus totalis, Talipes, Aplasia/Hypoplasia of the thumb, Finger syndactyly, Non-midline ...	ORPHA:1908
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 3	Hypoplastic sacrum, Microdontia, Split foot, Decreased response to growth hormone stimulation tes...	OMIM:604292
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 3	Hypoplasia of the ulna, Carpal bone hypoplasia, Multiple joint dislocation, Platyspondyly, Disloc...	OMIM:618395
Ciliary Dyskinesia, Primary, 39	Double outlet right ventricle, Dextrocardia	OMIM:618254
Cornelia De Lange Syndrome 6	Highly arched eyebrow, Pectus carinatum, Arachnodactyly, Posterior rib fusion, Long philtrum, Ing...	OMIM:620568
Thoracoabdominal Syndrome	Congenital diaphragmatic hernia, Ectopia cordis, Transposition of the great arteries, Ventral her...	OMIM:313850
Opitz Gbbb Syndrome	Rectourethral fistula, Solitary median maxillary central incisor, Telecanthus, Gastroesophageal r...	OMIM:300000
Nasopalpebral Lipoma-Coloboma Syndrome	Multiple lipomas, Clinodactyly of the 5th finger, Telecanthus, Abnormal eyelash morphology, Hypop...	ORPHA:2399
Metaphyseal Chondromatosis With D-2-Hydroxyglutaric Aciduria	Retrognathia, Abnormal bone ossification, Metaphyseal enchondromatosis, Lymphangioma, Metaphyseal...	ORPHA:99646
Lethal Hemolytic Anemia-Genital Anomalies Syndrome	Thin vermilion border, Anemia, Sandal gap, Narrow mouth, Micrognathia, Splenomegaly, Aplasia/Hypo...	ORPHA:1046
Mucopolysaccharidosis, Type Vi	Kyphoscoliosis, Hypoplastic iliac wing, Pectus carinatum, Cardiomyopathy, Flared iliac wing, Join...	OMIM:253200
Xk Aprosencephaly Syndrome	Microphthalmia, Narrow mouth, Anal atresia, Atrial septal defect, Ventricular septal defect, Abno...	ORPHA:3469
Braddock-Carey Syndrome 2	Microphthalmia, Downslanted palpebral fissures, Pierre-Robin sequence, Thrombocytopenia, Wide mou...	OMIM:619981
Congenital Fibrinogen Deficiency	Cyanosis, Clubbing of fingers, Hemorrhagic ovarian cyst, Gingival bleeding, Decreased testicular ...	ORPHA:335
Spondylometaphyseal Dysplasia, Kozlowski Type	Narrow greater sciatic notch, Kyphoscoliosis, Cone-shaped epiphyses of the phalanges of the hand,...	OMIM:184252
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 4	Rocker bottom foot, Everted upper lip vermilion, Dilation of Virchow-Robin spaces, Sandal gap, Hi...	OMIM:619951
Inverted Duplicated Chromosome 15 Syndrome	Clinodactyly of the 5th finger, Short philtrum, Hernia, 2-3 toe syndactyly, High palate, Synophry...	ORPHA:3306
Bruck Syndrome 2	Osteopenia, Inguinal hernia, Pterygium, Wormian bones, Femoral bowing, Elbow flexion contracture,...	OMIM:609220
Orofaciodigital Syndrome Xi	Kyphoscoliosis, Postaxial polydactyly, Downslanted palpebral fissures, Hypoplasia of the odontoid...	OMIM:612913
Spondyloocular Syndrome	Osteopenia, Femur fracture, Duodenal ulcer, Pes planus, Vertebral compression fracture, Long toe,...	OMIM:605822
Lethal Kniest-Like Dysplasia	Abnormal ischium morphology, Platyspondyly, Narrow chest, Flared metaphysis, Wide anterior fontan...	ORPHA:2347
Radio-Renal Syndrome	Hypoplasia of the radius, High, narrow palate, Retrognathia, Respiratory distress, Chylothorax, A...	ORPHA:3015
Intellectual Developmental Disorder, Autosomal Dominant 70	Short palpebral fissure, Retrognathia, Retinal telangiectasia, Highly arched eyebrow, Mandibular ...	OMIM:620157
Loeys-Dietz Syndrome 4	Retrognathia, Arterial tortuosity, Spondylolisthesis, Abnormal sternum morphology, Aortic tortuos...	OMIM:614816
Pyruvate Dehydrogenase Deficiency	Osteolytic defects of the middle phalanx of the 4th toe, High palate, Pectus excavatum, Epicanthu...	ORPHA:765
Surfactant Metabolism Dysfunction, Pulmonary, 3	Reticular pattern on pulmonary HRCT, Respiratory distress, Paraseptal emphysema, Honeycomb lung, ...	OMIM:610921
Teebi-Shaltout Syndrome	Rocker bottom foot, Highly arched eyebrow, Pectus carinatum, Pectus excavatum, Aortic valve steno...	OMIM:272950
Ehlers-Danlos Syndrome, Musculocontractural Type, 2	Long philtrum, Telecanthus, Inguinal hernia, Dental crowding, Patent foramen ovale, Atrophic scar...	OMIM:615539
Sheldon-Hall Syndrome	Bilateral single transverse palmar creases, Tarsal synostosis, Abnormal hip bone morphology, Scol...	ORPHA:1147
Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion	2-4 toe cutaneous syndactyly, Retrognathia, Pectus excavatum, Kyphosis, Aortic valve stenosis, Ab...	ORPHA:268261
Mitochondrial Trifunctional Protein Deficiency	Pes cavus, Equinovarus deformity, Hypoparathyroidism, Cardiomyopathy, Cholestasis, Equinus calcan...	ORPHA:746
Sillence Syndrome	Large iliac wing, Flat acetabular roof, Broad metatarsal, Broad thumb, Abnormal morphology of the...	ORPHA:3168
Osteoporosis-Macrocephaly-Blindness-Joint Hyperlaxity Syndrome	Wormian bones, Osteoporosis, Brachydactyly, Short distal phalanx of finger, Joint hypermobility	ORPHA:2787
Cleft Velum	Oral-pharyngeal dysphagia, Cleft soft palate, Aspiration pneumonia, Hypoplasia of the maxilla, Ve...	ORPHA:99772
Vitamin D-Dependent Rickets, Type 2A	Rickets, Fibular bowing, Delayed eruption of teeth, Bulging of the costochondral junction, Delaye...	OMIM:277440
Congenital Disorder Of Glycosylation, Type Iia	Retrognathia, Proximal placement of thumb, Everted lower lip vermilion, Pectus excavatum, Wide mo...	OMIM:212066
Osteogenesis Imperfecta, Type Xvi	Osteopenia, Rhizomelia, Platyspondyly, Narrow chest, Vertebral compression fracture, Angulated hu...	OMIM:616229
Roberts Syndrome	Bilateral single transverse palmar creases, Radial deviation of finger, Mesomelic arm shortening,...	ORPHA:3103
Holt-Oram Syndrome	Abnormal coronary artery origin, Aplasia of the pectoralis major muscle, Cervical C2/C3 vertebral...	OMIM:142900
Poland Syndrome	Hypoplasia of deltoid muscle, Dextrocardia, Short ribs, Hemivertebrae, Unilateral oligodactyly, S...	OMIM:173800
Poland Syndrome	Congenital diaphragmatic hernia, Aplasia of the pectoralis major muscle, Reduced bone mineral den...	ORPHA:2911
Ellis Van Creveld Syndrome	Microdontia, Abnormal oral frenulum morphology, Short distal phalanx of finger, Short thorax, Abn...	ORPHA:289
Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia	Hypoparathyroidism, Cholelithiasis, Chronic active hepatitis, Keratoconjunctivitis, Asplenia, Ena...	OMIM:240300
Bruck Syndrome	Pterygium, Scoliosis, Wormian bones, Bowing of the long bones, Kyphosis, Osteoporosis, Joint stif...	ORPHA:2771
Neurodevelopmental Disorder With Growth Retardation, Dysmorphic Facies, And Corpus Callosum Abnormalities	Clinodactyly of the 5th toe, Retrognathia, Medial flaring of the eyebrow, Clinodactyly of the 5th...	OMIM:620113
Hypogonadotropic Hypogonadism 2 With Or Without Anosmia	Osteopenia, Ectrodactyly, Tooth agenesis, Cleft upper lip, Cleft palate, Cryptorchidism, Clinodac...	OMIM:147950
Trichothiodystrophy 3, Photosensitive	Ectropion, Cutaneous photosensitivity, Meckel diverticulum, Bilateral cryptorchidism, Pyloric ste...	OMIM:616395
Spondylometaphyseal Dysplasia, A4 Type	Limitation of joint mobility, Micromelia, Coxa vara, Short palm, Flared, irregular rib ends, Plat...	ORPHA:168555
Laryngotracheoesophageal Cleft Type 4	Abnormal form of the vertebral bodies, Tracheoesophageal fistula, Abnormal rib morphology, Abnorm...	ORPHA:93941
Pyknoachondrogenesis	Short iliac bones, Palpebral edema, Craniofacial hyperostosis, Abnormality of mouth shape, Abnorm...	ORPHA:3003
Congenital Tracheomalacia	Tracheobronchomalacia, Tracheoesophageal fistula, Abnormal heart morphology, Cardiomegaly, Patent...	ORPHA:95430
Lissencephaly Syndrome, Norman-Roberts Type	Rocker bottom foot, Respiratory distress, Patent foramen ovale, Hypoplastic spleen, Dysphagia, Mi...	ORPHA:89844
Skraban-Deardorff Syndrome	Pes cavus, Absent cupid's bow, Widely spaced teeth, Right aortic arch, Sparse lateral eyebrow, Mi...	OMIM:617616
Fetal Minoxidil Syndrome	Clinodactyly of the 5th finger, Cryptorchidism, Micrognathia, Umbilical hernia, Ventricular septa...	ORPHA:1918
Pycnodysostosis	Narrow palate, Spondylolysis, Spondylolisthesis, Increased bone mineral density, Narrow iliac win...	OMIM:265800
Neurodevelopmental Disorder With Dysmorphic Facies And Ischiopubic Hypoplasia	Reduced bone mineral density, Hepatomegaly, Joint dislocation, Joint stiffness, Coarctation of ao...	OMIM:620210
Mucolipidosis Ii Alpha/Beta	Palpebral edema, Short long bone, Flat acetabular roof, Pectus excavatum, Flared iliac wing, Wide...	OMIM:252500
Neurodevelopmental Disorder With Seizures And Brain Atrophy	Rocker bottom foot, Retrognathia, High palate, Long philtrum, Arthrogryposis multiplex congenita	OMIM:619072
Meckel Syndrome, Type 5	Microphthalmia, Postaxial hand polydactyly, Bowing of the long bones, Bile duct proliferation, Cl...	OMIM:611561
Dyrk1A-Related Intellectual Disability Syndrome	Pectus excavatum, Structural foot deformity, Kyphosis, Aortic valve stenosis, Arachnodactyly, Pol...	ORPHA:464306
Meacham Syndrome	Death in infancy, Bicuspid aortic valve, Congenital alveolar dysplasia, Transposition of the grea...	OMIM:608978
Cleidocranial Dysplasia 1	Spondylolysis, Delayed pubic bone ossification, Spondylolisthesis, Cone-shaped epiphyses of the p...	OMIM:119600
Holoprosencephaly 13, X-Linked	Butterfly vertebrae, Solitary median maxillary central incisor, Duodenal atresia, Optic nerve hyp...	OMIM:301043
Chronic Intestinal Pseudoobstruction	Abnormal intestine morphology, Pyloric stenosis, Intestinal malrotation, Abnormal platelet morpho...	ORPHA:2978
King-Denborough Syndrome	Kyphoscoliosis, Bilateral ptosis, Scoliosis, Thoracic kyphosis, High palate, Bilateral cryptorchi...	OMIM:619542
Spondylocostal Dysostosis 1, Autosomal Recessive	Kyphoscoliosis, Abnormal odontoid process morphology, Hemivertebrae, Vertebral segmentation defec...	OMIM:277300
Garg-Mishra Progeroid Syndrome	Microphthalmia, Slender long bone, Dental crowding, Thin ribs, Microvesicular hepatic steatosis, ...	OMIM:620601
8P23.1 Duplication Syndrome	Highly arched eyebrow, Pulmonic stenosis, Tetralogy of Fallot, Thick vermilion border, Long philt...	ORPHA:251076
Chromosome 17Q11.2 Duplication Syndrome, 1.4-Mb	Bilateral cleft palate, High palate, Pectus excavatum, Ankyloglossia, Sparse eyelashes, Enamel hy...	OMIM:618874
Stormorken-Sjaastad-Langslet Syndrome	Anemia, Asplenia	ORPHA:3204
Chromosome 5Q12 Deletion Syndrome	Atrial septal defect, Sacral dimple, Short philtrum, Patent foramen ovale, Long palpebral fissure...	OMIM:615668
48,Xxxy Syndrome	Abnormal epiphysis morphology, Joint hypermobility, Coxa valga, Taurodontia, Hip dislocation, Ing...	ORPHA:96263
Hypocalcemic Vitamin D-Dependent Rickets	Tibial bowing, Femoral bowing, Cardiomyopathy, Irregular, rachitic-like metaphyses, Splenomegaly,...	ORPHA:289157
Intellectual Developmental Disorder, X-Linked, Syndromic 35	Dilation of Virchow-Robin spaces, Dental crowding, Long philtrum, Short finger, 2-3 toe cutaneous...	OMIM:300998
Microphthalmia, Syndromic 1	Kyphoscoliosis, Radial deviation of finger, Dental crowding, Prominent fingertip pads, Pectus exc...	OMIM:309800
Dysmorphism-Pectus Carinatum-Joint Laxity Syndrome	Genu valgum, Telecanthus, Pectus carinatum, Tented upper lip vermilion, Malar flattening, Joint h...	ORPHA:2104
Cardiac Diverticulum	Abnormal coronary artery origin, Aortic valve stenosis, Abnormal heart morphology, Mitral valve p...	ORPHA:1686
Spondyloepimetaphyseal Dysplasia, Shohat Type	Narrow greater sciatic notch, Short ribs, Splenomegaly, Metaphyseal irregularity, Joint hypermobi...	OMIM:602557
Vitamin D Hydroxylation-Deficient Rickets, Type 1B	Rickets, Enlargement of the costochondral junction, Fibular bowing, Delayed epiphyseal ossificati...	OMIM:600081
Oculocerebrocutaneous Syndrome	Microphthalmia, Anophthalmia, Orbital cyst, Congenital hip dislocation, Cleft palate, Eyelid colo...	OMIM:164180
Periventricular Nodular Heterotopia 7	1-4 toe syndactyly, Clinodactyly of the 5th finger, Talipes equinovarus, Dental crowding, 2-3 toe...	OMIM:617201
Gm1-Gangliosidosis, Type I	Beaking of vertebral bodies, Angiokeratoma corporis diffusum, Hepatomegaly, Inguinal hernia, Vacu...	OMIM:230500
Radio-Tartaglia Syndrome	Retrognathia, Highly arched eyebrow, Dental crowding, Wide mouth, Dysphagia, Long philtrum, Short...	OMIM:619312
Vacterl With Hydrocephalus	Hypoplasia of the radius, Retrognathia, Esophageal atresia, Inguinal hernia, Abnormal form of the...	ORPHA:3412
Microcephaly, Facial Dysmorphism, Renal Agenesis, And Ambiguous Genitalia Syndrome	Retrognathia, Preaxial polydactyly, Highly arched eyebrow, Ventricular septal defect, High palate...	OMIM:618142
Cat-Eye Syndrome	Downslanted palpebral fissures, Abnormal rib morphology, Anal atresia, Hip dysplasia	ORPHA:195
Maternal Uniparental Disomy Of Chromosome 6	Inguinal hernia, Slender long bone, Miscarriage, Cleft upper lip, Cleft palate, Thrombocytopenia,...	ORPHA:96181
Thrombocytopenia 11 With Multiple Congenital Anomalies And Dysmorphic Facies	Retrognathia, Dental crowding, Pectus carinatum, Ventricular hypertrophy, Pulmonic stenosis, Leuk...	OMIM:620654
Trichohepatoneurodevelopmental Syndrome	Ectropion, Steatorrhea, Dental crowding, Pectus excavatum, Microdontia, Wide mouth, Splenomegaly,...	OMIM:618268
Monosomy 9P	Bilateral single transverse palmar creases, Congenital diaphragmatic hernia, Proximal placement o...	ORPHA:261112
Myasthenic Syndrome, Congenital, 7B, Presynaptic, Autosomal Recessive	Ankle flexion contracture, Scoliosis, Elbow flexion contracture, Pyloric stenosis, Mitral stenosi...	OMIM:619461
Lethal Osteosclerotic Bone Dysplasia	Large fontanelles, Gingival fibromatosis, Gingival overgrowth, Delayed cranial suture closure, Me...	ORPHA:1832
Fliedner-Zweier Syndrome	Bicuspid aortic valve, Long philtrum, Hypoplastic aortic arch, Scoliosis, High palate, Pectus exc...	OMIM:620511
Vitamin D-Dependent Rickets, Type 2B, With Normal Vitamin D Receptor	Rickets, Genu valgum, Fibular bowing, Generalized bone demineralization, Rickets of the lower lim...	OMIM:600785
Ververi-Brady Syndrome	Transposition of the great arteries, Clinodactyly of the 5th finger, Scoliosis, High palate, Ever...	OMIM:617982
Pelger-Huet Anomaly	Polydactyly, Short 4th metacarpal, Pes cavus, Giant platelets, Upper limb undergrowth, Gingival o...	OMIM:169400
Diffuse Palmoplantar Keratoderma-Acrocyanosis Syndrome	Acrocyanosis, Diffuse palmoplantar hyperkeratosis	ORPHA:86918
Kniest Dysplasia	Bilateral ptosis, Enlarged metaphyses, Short long bone, Dumbbell-shaped long bone, Joint stiffnes...	ORPHA:485
Tetraamelia-Multiple Malformations Syndrome	Abnormal lung lobation, Orofacial cleft, Narrow mouth, Aplasia/Hypoplasia involving the pelvis, A...	ORPHA:3301
Familial Osteodysplasia, Anderson Type	Aplasia/hypoplasia of the femur, Abnormal zygomatic bone morphology, Abnormal cortical bone morph...	ORPHA:2769
X-Linked Dominant Chondrodysplasia Punctata	Kyphoscoliosis, Microphthalmia, Epiphyseal stippling, Scarring alopecia of scalp, Anterior rib pu...	ORPHA:35173
Lessel-Kreienkamp Syndrome	Atrial septal defect, Clinodactyly of the 5th finger, Patent foramen ovale, Pulmonic stenosis, Wi...	OMIM:619149
Zechi-Ceide Syndrome	Narrow palpebral fissure, Short palpebral fissure, Long foot, Thin vermilion border, Short metata...	ORPHA:217017
Global Developmental Delay With Or Without Impaired Intellectual Development	Oligodontia, Pulmonary sequestration, Pectus excavatum, Long palpebral fissure, Patent ductus art...	OMIM:618330
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, C...	OMIM:266920
Craniosynostosis-Anal Anomalies-Porokeratosis Syndrome	Abnormal clavicle morphology, Abnormal palate morphology, Tarsal synostosis, Short thorax, Abnorm...	ORPHA:85199
Congenital Osteogenesis Imperfecta-Microcephaly-Cataracts Syndrome	Abnormal rib morphology, Micromelia, Decreased calvarial ossification, Cryptorchidism, Joint hype...	ORPHA:2772
Rothmund-Thomson Syndrome, Type 2	Kyphoscoliosis, Premature graying of hair, Microdontia, Telangiectasia, Absent eyelashes, Osteopo...	OMIM:268400
Seckel Syndrome 1	Sandal gap, Cone-shaped epiphyses of the phalanges of the hand, Dislocated radial head, Dental cr...	OMIM:210600
Holoprosencephaly 9	Solitary median maxillary central incisor, Bilateral cleft palate, Hypoplasia of the premaxilla, ...	OMIM:610829
Meckel Syndrome, Type 6	Talipes equinovarus, Bilobed right lung, Postaxial hand polydactyly, Bile duct proliferation, Cle...	OMIM:612284
Peroxisome Biogenesis Disorder 12A (Zellweger)	Abnormal cortical bone morphology, Cholelithiasis, Wide anterior fontanel, Epicanthus, Patent duc...	OMIM:614886
Metaphyseal Dysostosis, Impaired Intellectual Development, And Conductive Deafness	Short ribs, Short long bone, Cupped ribs, Metaphyseal irregularity, Joint hypermobility, Genu var...	OMIM:250420
Arthrogryposis Multiplex Congenita 5	Rocker bottom foot, Kyphoscoliosis, Limitation of knee mobility, Death in infancy, Umbilical hern...	OMIM:618947
Ciliary Dyskinesia, Primary, 1	Situs inversus totalis, Atelectasis, Absent frontal sinuses, Recurrent bronchitis, Asplenia, Bron...	OMIM:244400
Autosomal Recessive Cutis Laxa Type 1	Pneumothorax, Vascular dilatation, Emphysema, Inguinal hernia, Joint subluxation, Dermatochalasis...	ORPHA:90349
Gorlin Syndrome	Ovarian fibroma, Arachnodactyly, Palmar pits, Scoliosis, Hemivertebrae, Cardiac fibroma, Carious ...	ORPHA:377
X-Linked Intellectual Disability, Cabezas Type	Sandal gap, Kyphosis, Wide mouth, Joint hypermobility, Short philtrum, Inguinal hernia, Scoliosis...	ORPHA:85293
Microcephaly-Cardiomyopathy Syndrome	High, narrow palate, Clinodactyly of the 5th finger, Sandal gap, Dilated cardiomyopathy, Ventricu...	ORPHA:2515
Homocystinuria Due To Cystathionine Beta-Synthase Deficiency	Kyphoscoliosis, Pancreatitis, Inguinal hernia, Dental crowding, Stroke, Pectus carinatum, Limitat...	OMIM:236200
Gm1 Gangliosidosis	Abnormal form of the vertebral bodies, Hyperlordosis, Cardiomyopathy, Kyphosis, Joint stiffness, ...	ORPHA:354
Pelvis-Shoulder Dysplasia	Aplasia/hypoplasia of the femur, Abnormal form of the vertebral bodies, Dislocated radial head, H...	ORPHA:2839
Congenital Rubella Syndrome	Abnormal metaphysis morphology, Microphthalmia, Jaundice, Hepatomegaly, Anemia, Abnormality of th...	ORPHA:290
Cartilage-Hair Hypoplasia	Impaired lymphocyte transformation with phytohemagglutinin, Macrocytic anemia, Asymmetry of the t...	OMIM:250250
Microphthalmia, Syndromic 13	Widely-spaced incisors, Ptosis, Microphthalmia, Kyphoscoliosis	OMIM:300915
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome	Hepatomegaly, Protein-losing enteropathy, Narrow chest, Inguinal hernia, Pancreatic lymphangiecta...	ORPHA:1655
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy	Rhizomelic leg shortening, Short ribs, Abnormal 5th metacarpal morphology, Thoracic hypoplasia, R...	ORPHA:397715
Cutis Laxa, Autosomal Recessive, Type Iib	Osteopenia, Large fontanelles, Inguinal hernia, Joint hypermobility, Scoliosis, Wormian bones, Hi...	OMIM:612940
Robin Sequence With Distinctive Facial Appearance And Brachydactyly	Microphthalmia, Aplasia of the distal phalanx of the 5th toe, Everted lower lip vermilion, Long p...	OMIM:608670
Osteoglosphonic Dysplasia	Abnormal clavicle morphology, Abnormal bone ossification, Rhizomelia, Inguinal hernia, Abnormal f...	ORPHA:2645
Osteogenesis Imperfecta, Type Vii	Crumpled long bones, Pectus excavatum, Death in infancy, Multiple prenatal fractures, Dentinogene...	OMIM:610682
Spondylocostal Dysostosis 4, Autosomal Recessive	Abnormal odontoid process morphology, Situs inversus totalis, Anal stenosis, Dextrocardia, Bell-s...	OMIM:613686
Osteogenesis Imperfecta, Type Xi	Kyphoscoliosis, Osteopenia, Vertebral compression fracture, Vertebral wedging, Scoliosis, Coxa va...	OMIM:610968
Lethal Congenital Contracture Syndrome 9	Axillary pterygium, Thoracic kyphoscoliosis, Wrist flexion contracture, Congenital contracture, A...	OMIM:616503
Coenzyme Q10 Deficiency, Primary, 8	Respiratory distress, Pulmonary hypoplasia, Flexion contracture, Left ventricular hypertrophy	OMIM:616733
Isolated Anencephaly	Congenital diaphragmatic hernia, Cleft lip, Thymus hyperplasia, Omphalocele	ORPHA:563609
Chromosome 15Q14 Deletion Syndrome	Short philtrum, Highly arched eyebrow, Recurrent viral upper respiratory tract infections, Everte...	OMIM:616898
Primrose Syndrome	Reduced bone mineral density, Pectus excavatum, Kyphosis, Generalized osteoporosis, Short distal ...	OMIM:259050
Rapadilino Syndrome	High, narrow palate, Stiff interphalangeal joints, Joint dislocation, Aplasia/Hypoplasia of the p...	OMIM:266280
Absence Of The Pulmonary Artery	Pulmonary edema, Pedal edema, Recurrent respiratory infections, Patent foramen ovale, Truncus art...	ORPHA:980
Shwachman-Diamond Syndrome 1	Narrow greater sciatic notch, Steatorrhea, Myocardial necrosis, Neutropenia, Enlargement of the c...	OMIM:260400
Hypophosphatasia, Infantile	Stillbirth, Anemia, Unossified vertebral bodies, Recurrent respiratory infections, Metaphyseal cu...	OMIM:241500
Fetal Trimethadione Syndrome	Transposition of the great arteries, Scoliosis, High palate, Synophrys, Ptosis, Tetralogy of Fall...	ORPHA:1913
Vulto-Van Silfhout-De Vries Syndrome	2-3 toe cutaneous syndactyly, Thick lower lip vermilion, Sacral dimple, Mandibular prognathia, Pr...	OMIM:615828
22Q11.2 Duplication Syndrome	Transposition of the great arteries, Interrupted aortic arch, Scoliosis, Ptosis, Downslanted palp...	ORPHA:1727
Monosomy 9Q22.3	Polydactyly, Orofacial cleft, Microphthalmia, Joint hypermobility, Odontogenic keratocysts of the...	ORPHA:77301
Hurler Syndrome	Bilateral ptosis, Calvarial hyperostosis, Cardiomyopathy, Flared iliac wing, Microdontia, Joint s...	OMIM:607014
Klippel-Feil Syndrome 1, Autosomal Dominant	Cervical C2/C3 vertebral fusion, Scoliosis, Abnormal rib morphology, Sprengel anomaly, Cleft pala...	OMIM:118100
Bronchogenic Cyst	Bronchogenic cyst, Pneumonia, Atelectasis, Abnormal peritoneum morphology, Abnormal lumbar spine ...	ORPHA:2357
Focal Facial Dermal Dysplasia Type Iv	Scarring, Cleft upper lip, Cleft palate, Intracranial hemorrhage, Abnormal mast cell morphology	ORPHA:398189
Hemifacial Hyperplasia	Hypoplasia of the maxilla, Dental malocclusion	OMIM:133900
H Syndrome	Lymphadenopathy, Recurrent pharyngitis, Varicose veins, Recurrent fractures, Gingival overgrowth,...	ORPHA:168569
Nestor-Guillermo Progeria Syndrome	Lipoatrophy, Left atrial enlargement, Limited elbow movement, Dental crowding, Joint stiffness, P...	OMIM:614008
Mucopolysaccharidosis, Type Iiid	Broad alveolar ridges, Joint stiffness, Hypoplastic vertebral bodies, Wide mouth, Splenomegaly, D...	OMIM:252940
Mitochondrial Complex I Deficiency, Nuclear Type 35	Pulmonary hypoplasia, Neonatal death, Cardiomyopathy	OMIM:619003
Cousin Syndrome	Microphthalmia, Dislocated radial head, Hypoplastic iliac wing, Wrist flexion contracture, Hypopl...	OMIM:260660
Ohdo Syndrome, X-Linked	Microphthalmia, Microdontia, Long philtrum, Overlapping toe, Joint hypermobility, Clinodactyly, L...	OMIM:300895
Mandibuloacral Dysplasia With Type B Lipodystrophy	Dental crowding, Loss of subcutaneous adipose tissue in limbs, Short phalanx of finger, Acroosteo...	OMIM:608612
Mesoaxial Hexadactyly And Cardiac Malformation	Everted lower lip vermilion, Pulmonic stenosis, Hand polydactyly, Patent ductus arteriosus, Atria...	OMIM:249670
Congenital Heart Defects, Multiple Types, 6	Transposition of the great arteries, Hypoplastic pulmonary veins, Right aortic arch, Pulmonary ar...	OMIM:613854
Intellectual Developmental Disorder, Autosomal Recessive 79	Clinodactyly of the 5th finger, Short hallux, Slender finger, Long fingers, Smooth philtrum, Pes ...	OMIM:620393
Faciocardiomelic Syndrome	Osteopenia, Polydactyly, Hyperplasia of the maxilla, Telecanthus, Slender long bone, Narrow chest...	OMIM:612731
Intellectual Developmental Disorder, X-Linked, Syndromic, Hackmann-Di Donato Type	Short philtrum, Aortic root aneurysm, Pectus carinatum, Scoliosis, Pectus excavatum, Camptodactyl...	OMIM:301039
Acrocraniofacial Dysostosis	Abnormal hip bone morphology, Abnormal form of the vertebral bodies, Pectus excavatum, Flared ili...	ORPHA:949
Cog1-Cdg	Kyphoscoliosis, Short long bone, Flat acetabular roof, Long philtrum, Coxa valga, Butterfly verte...	ORPHA:263508
Cortical Dysplasia, Complex, With Other Brain Malformations 9	Pulmonary hypoplasia, Bilateral talipes equinovarus	OMIM:618174
Spondylometaphyseal Dysplasia, Sedaghatian Type	Narrow greater sciatic notch, Cone-shaped epiphyses of the phalanges of the hand, Short ribs, Sho...	OMIM:250220
Mucopolysaccharidosis, Type X	Beaking of vertebral bodies, Genu valgum, Widely spaced teeth, Spatulate ribs, Platyspondyly, Bro...	OMIM:619698
Contractures, Pterygia, And Spondylocarpotarsal Fusion Syndrome 1B	Tarsal synostosis, Fused cervical vertebrae, Scoliosis, Absent phalangeal crease, Cleft palate, A...	OMIM:618469
Saethre-Chotzen Syndrome	Shallow orbits, Abnormal heart morphology, Partial duplication of the distal phalanx of the 3rd f...	OMIM:101400
Nanophthalmos 1	Bilateral microphthalmos	OMIM:600165
Omphalocele, X-Linked	Omphalocele	OMIM:310980
Omphalocele, Autosomal	Omphalocele	OMIM:164750
Noonan Syndrome 4	Bilateral ptosis, Abnormal sternum morphology, Pectus excavatum, Pulmonic stenosis, Wide mouth, S...	OMIM:610733
Microphthalmia, Isolated 7	Microphthalmia	OMIM:613704
Nanophthalmos 2	Microphthalmia	OMIM:609549
Diamond-Blackfan Anemia 7	Osteopenia, Triphalangeal thumb, Macrocytic anemia, Increased mean corpuscular volume, Scoliosis,...	OMIM:612562
Temtamy Preaxial Brachydactyly Syndrome	Tarsal synostosis, Short metatarsal, Hitchhiker thumb, Highly arched eyebrow, Short metacarpal, T...	OMIM:605282
Leopard Syndrome 3	Abnormal aortic valve morphology, Cubitus valgus, Abnormal mitral valve morphology, Downslanted p...	OMIM:613707
Craniofacial Abnormalities, Cataracts, Congenital Heart Disease, Sacral Neural Tube Defects, And Growth And Developmental Retardation	Thick lower lip vermilion, Sacral dimple, Short philtrum, Scoliosis, Micrognathia, Atrial septal ...	OMIM:608227
Serkal Syndrome	Congenital diaphragmatic hernia, Orofacial cleft, Pulmonic stenosis, Pulmonary hypoplasia, Malrot...	ORPHA:139466
Joubert Syndrome 37	Microphthalmia, Hepatomegaly, High palate, Prominent metopic ridge, Postaxial polydactyly, Ptosis...	OMIM:619185
Septopreoptic Holoprosencephaly	Abnormal vertebral morphology, Anterior hypopituitarism, Abnormal rib morphology, Coarctation of ...	ORPHA:280195
Temple-Baraitser Syndrome	Bilateral ptosis, Everted upper lip vermilion, Everted lower lip vermilion, Broad thumb, Wide mou...	ORPHA:420561
Aymé-Gripp Syndrome	Rocker bottom foot, Bilateral ptosis, Congenital diaphragmatic hernia, Shallow orbits, Pericardit...	ORPHA:1272
Lenz-Majewski Hyperostotic Dwarfism	Broad clavicles, Cutis marmorata, Syndactyly, Joint hypermobility, Broad ribs, Inguinal hernia, E...	OMIM:151050
Vitamin D Hydroxylation-Deficient Rickets, Type 1A	Rickets, Enlargement of the costochondral junction, Fibular bowing, Delayed eruption of teeth, Bu...	OMIM:264700
Opsismodysplasia	Short long bone, Flat acetabular roof, Short metacarpal, Hypoplastic ischia, Shallow orbits, Hypo...	OMIM:258480
Pseudohermaphroditism, Female, With Skeletal Anomalies	Hypoplasia of the maxilla, Ulnar radial head dislocation, Short mandibular condyles	OMIM:264270
Sialuria	Hepatomegaly, Inguinal hernia, 2-3 toe syndactyly, Hypoplastic nipples, High palate, Scoliosis, S...	OMIM:269921
Craniofacial Dyssynostosis With Short Stature	Ventricular septal defect, Pyloric stenosis, Malar flattening, Patent ductus arteriosus, Cryptorc...	OMIM:218350
Ischiocoxopodopatellar Syndrome With Or Without Pulmonary Arterial Hypertension	Tarsal synostosis, Patellar hypoplasia, Sandal gap, Flat capital femoral epiphysis, High palate, ...	OMIM:147891
Hydrolethalus Syndrome 1	Abnormal lung lobation, Stillbirth, Adrenal gland dysgenesis, Talipes equinovarus, Accessory sple...	OMIM:236680
Chromosome 17Q12 Duplication Syndrome	Microphthalmia, Esophageal atresia, Cleft soft palate, Broad thumb, Downslanted palpebral fissure...	OMIM:614526
Coffin-Siris Syndrome 7	Thick lower lip vermilion, Clinodactyly of the 5th finger, Short philtrum, Patent foramen ovale, ...	OMIM:618027
Trisomy 9P	Bilateral single transverse palmar creases, Sacral dimple, Clinodactyly of the 5th finger, Dental...	ORPHA:236
Li-Ghorbani-Weisz-Hubshman Syndrome	Clinodactyly of the 5th finger, Telecanthus, Downturned corners of mouth, Thick vermilion border,...	OMIM:618974
Spondyloepimetaphyseal Dysplasia, Missouri Type	Limited elbow extension, Rhizomelia, Platyspondyly, Small epiphyses, Ulnar bowing, Metaphyseal cu...	OMIM:602111
Thanatophoric Dysplasia, Type Ii	Platyspondyly, Narrow chest, Short greater sciatic notch, Flared metaphysis, Wide-cupped costocho...	OMIM:187601
Hemifacial Microsomia With Radial Defects	Short mandibular rami, Orofacial cleft, Triphalangeal thumb, Non-midline cleft of the upper lip, ...	OMIM:141400
Stickler Syndrome, Type I	Spondylolisthesis, Pectus excavatum, Kyphosis, Joint stiffness, Arachnodactyly, Bifid uvula, Irre...	OMIM:108300
Scarf Syndrome	Long philtrum, Hepatocellular adenoma, Inguinal hernia, Abnormal form of the vertebral bodies, Pe...	ORPHA:3134
Trisomy 20P	Reduced bone mineral density, Abnormal hip bone morphology, Abnormal form of the vertebral bodies...	ORPHA:261318
Pagod Syndrome	Abnormal clavicle morphology, Situs inversus totalis, Congenital diaphragmatic hernia, Abnormal a...	ORPHA:991
Momo Syndrome	Bilateral microphthalmos, Thick lower lip vermilion, Abnormal bone ossification, Delayed eruption...	ORPHA:2563
Intellectual Developmental Disorder, X-Linked, Syndromic, Snyder-Robinson Type	Kyphoscoliosis, Dental crowding, Pectus carinatum, Pectus excavatum, Bifid uvula, Short philtrum,...	OMIM:309583
Microphthalmia/Coloboma 4	Orbital cyst, Microphthalmia	OMIM:251505
Becker Nevus Syndrome	Lipoatrophy, Abnormal tibia morphology, Spina bifida occulta, Pectus carinatum, Scoliosis, Pectus...	ORPHA:64755
Microcephaly And Chorioretinopathy, Autosomal Recessive, 3	Microphthalmia	OMIM:616335
Congenital Pulmonary Lymphangiectasia	Hepatomegaly, Gastroesophageal reflux, Respiratory distress, Chylopericardium, Pleural effusion, ...	ORPHA:2414
Microphthalmia, Isolated, With Cataract 1	Microphthalmia	OMIM:156850
Rhizomelic Skeletal Dysplasia With Or Without Pelger-Huet Anomaly	Femoral bowing, Short long bone, Hyperlordosis, Kyphosis, Thoracic hypoplasia, Metaphyseal irregu...	OMIM:618019
Hunter-Macdonald Syndrome	Mitral valve prolapse, Umbilical hernia, Bicuspid aortic valve, Short philtrum, Inguinal hernia, ...	OMIM:611962
Noonan Syndrome 3	Juvenile myelomonocytic leukemia, Tricuspid valve prolapse, Patent ductus arteriosus, Pectus cari...	OMIM:609942
Microphthalmia With Hyperopia, Retinal Degeneration, Macrophakia, And Dental Anomalies	Microphthalmia, Abnormality of the dentition	OMIM:251700
Fraser Syndrome 1	Upper eyelid coloboma, Dental crowding, Abnormal heart morphology, Aplasia/Hypoplasia of the ster...	OMIM:219000
Dyssegmental Dysplasia, Rolland-Desbuquois Type	Narrow greater sciatic notch, Equinovarus deformity, Narrow chest, Short ribs, Limitation of join...	OMIM:224400
Idiopathic Pulmonary Fibrosis	Abnormal pulmonary interstitial morphology, Orthodeoxia, Reticular pattern on pulmonary HRCT, Gas...	ORPHA:2032
Microcephaly-Corpus Callosum And Cerebellar Vermis Hypoplasia-Facial Dysmorphism-Intellectual Disability Syndrom	Bicuspid aortic valve, Highly arched eyebrow, Tracheobronchomalacia, Patent foramen ovale, Abnorm...	ORPHA:500159
Fanconi Anemia, Complementation Group S	Narrow palate, Microphthalmia, Anemia, Proximal placement of thumb, Blepharophimosis, Long eyelas...	OMIM:617883
19P13.12 Microdeletion Syndrome	Deep plantar creases, Sandal gap, Kyphosis, Long philtrum, Craniosynostosis, Hepatic steatosis, D...	ORPHA:254346
Microcephaly-Seizures-Intellectual Disability-Heart Disease Syndrome	Respiratory distress, Abnormal sternum morphology, Short ribs, Postaxial hand polydactyly, Abnorm...	ORPHA:2519
Bent Bone Dysplasia Syndrome 2	Hypoplastic iliac wing, Short ribs, Femoral bowing, Short lower limbs, Butterfly vertebrae, Bowed...	OMIM:620076
Arthrogryposis, Cleft Palate, Craniosynostosis, And Impaired Intellectual Development	Retrognathia, Slender long bone, Thin ribs, Decreased calvarial ossification, Micrognathia, Cleft...	OMIM:618265
Deafness, Onychodystrophy, Osteodystrophy, Impaired Intellectual Development, And Seizures Syndrome	Long philtrum, Thick lower lip vermilion, Clinodactyly of the 5th finger, Triphalangeal thumb, Gi...	OMIM:220500
Intellectual Disability-Strabismus Syndrome	Rocker bottom foot, Congenital diaphragmatic hernia, Highly arched eyebrow, Congenital finger fle...	ORPHA:363528
Hutchinson-Gilford Progeria Syndrome	Retrognathia, Reduced bone mineral density, Dental crowding, Ventricular hypertrophy, Limitation ...	ORPHA:740
Mosaic Trisomy 20	Retrognathia, Fused cervical vertebrae, Narrow chest, Scoliosis, Vertebral segmentation defect, K...	ORPHA:1724
Nabais Sa-De Vries Syndrome, Type 2	Thin vermilion border, Clinodactyly of the 5th finger, Gastroesophageal reflux, Bilateral cleft p...	OMIM:618829
Congenital Heart Defects, Dysmorphic Facial Features, And Intellectual Developmental Disorder	Highly arched eyebrow, Microdontia, Joint hypermobility, Clinodactyly, Short philtrum, Scoliosis,...	OMIM:617360
Mosaic Trisomy 8	Deep plantar creases, Clinodactyly of the 5th finger, Deep palmar crease, Narrow chest, Scoliosis...	ORPHA:96061
Spinal muscular atrophy, type I, with congenital bone fractures	Osteopenia, Rocker bottom foot, Respiratory distress, High palate, Pectus excavatum, Congenital h...	OMIM:271225
Intellectual Developmental Disorder, X-Linked, Syndromic, With Pigmentary Mosaicism And Coarse Facies	Hyperlordosis, Everted lower lip vermilion, Umbilical hernia, Cholecystitis, Broad ribs, Hip disl...	OMIM:301066
Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome	Microphthalmia, Flexion contracture of toe, Scoliosis, Kyphosis, Finger joint contracture, Osteop...	ORPHA:48431
Pelvis-Shoulder Dysplasia	Microphthalmia, Clinodactyly of the 5th finger, Spina bifida occulta, Hypoplastic acetabulae, Sho...	OMIM:169550
Hyperparathyroidism, Transient Neonatal	Subperiosteal bone formation, Short ribs, Femoral bowing, Short long bone, Ovarian cyst, Umbilica...	OMIM:618188
Classical Ehlers-Danlos Syndrome	Dislocated radial head, Arteriovenous fistula, Dermatochalasis, Arterial dissection, Cigarette-pa...	ORPHA:287
Surfactant Metabolism Dysfunction, Pulmonary, 1	Clubbing, Intraalveolar phospholipid accumulation, Death in infancy, Apnea, Neonatal death, Inter...	OMIM:265120
3Q29 Microdeletion Syndrome	Orofacial cleft, Microphthalmia, Clinodactyly of the 5th finger, Short philtrum, Dental crowding,...	ORPHA:65286
Contractures-Developmental Delay-Pierre Robin Syndrome	High, narrow palate, Inguinal hernia, Abnormal finger morphology, Glossoptosis, Wrist flexion con...	ORPHA:436003
Cleft Lip-Retinopathy Syndrome	Non-midline cleft of the upper lip	ORPHA:1995
Nicolaides-Baraitser Syndrome	Broad distal phalanx of finger, Sandal gap, Broad 2nd toe, Short metacarpal, Everted lower lip ve...	OMIM:601358
Cutis Laxa, Autosomal Recessive, Type Ib	Congenital diaphragmatic hernia, Retrognathia, Pulmonary artery aneurysm, Arterial tortuosity, Pe...	OMIM:614437
Autosomal Recessive Kenny-Caffey Syndrome	Thin clavicles, Calvarial osteosclerosis, Congenital hypoparathyroidism, Thin ribs, Delayed crani...	ORPHA:93324
Ablepharon-Macrostomia Syndrome	Clinodactyly of the 5th finger, Premature skin wrinkling, Ventral hernia, Absent eyelashes, Aplas...	OMIM:200110
Gillespie Syndrome	Truncus arteriosus, Aniridia, Hypoplasia of the iris	OMIM:206700
Mirage Syndrome	Rocker bottom foot, Anemia, Radial club hand, Patent ductus arteriosus, Gastroesophageal reflux, ...	OMIM:617053
Osteoporosis-Pseudoglioma Syndrome	Osteopenia, Microphthalmia, Abnormal femoral neck/head morphology, Crumpled long bones, Abnormal ...	ORPHA:2788
Mandibulofacial Dysostosis, Guion-Almeida Type	Proximal placement of thumb, Esophageal atresia, Telecanthus, Respiratory distress, Slender finge...	OMIM:610536
Trisomy 17P	Orofacial cleft, Clinodactyly of the 5th finger, Patent ductus arteriosus, Broad eyebrow, Scolios...	ORPHA:261290
Hypophosphatemic Rickets With Hypercalciuria, Hereditary	Rickets, Hypophosphatemic rickets, Enlargement of the costochondral junction, Fibular bowing, Del...	OMIM:241530
Intellectual Developmental Disorder, Autosomal Dominant 21	Thin vermilion border, Sacral dimple, Incisor macrodontia, Narrow mouth, Long eyelashes, Coarctat...	OMIM:615502
Oculocerebrocutaneous Syndrome	Tessier cleft, Orofacial cleft, Congenital diaphragmatic hernia, Talipes, Finger syndactyly, Miss...	ORPHA:1647
Cat Eye Syndrome	Microphthalmia, Biliary atresia, Meckel diverticulum, Pulmonic stenosis, Intestinal malrotation, ...	OMIM:115470
Frontofacionasal Dysplasia	Tessier cleft, Microphthalmia, Upper eyelid coloboma, Telecanthus, Absent inner eyelashes, Non-mi...	ORPHA:1791
Renal Agenesis, Bilateral	Sirenomelia, Non-midline cleft of the upper lip, Abnormal intestine morphology, Tracheoesophageal...	ORPHA:1848
Ectodermal Dysplasia, Sensorineural Hearing Loss, And Distinctive Facial Features	Trichiasis, Radial deviation of finger, Entropion, Short philtrum, Inguinal hernia, Ectodermal dy...	OMIM:609944
Hadziselimovic Syndrome	Thick lower lip vermilion, Ventricular hypertrophy, High palate, Pulmonary artery atresia, Anal a...	OMIM:612946
Achondrogenesis, Type Ib	Absent or minimally ossified vertebral bodies, Stillbirth, Narrow chest, Inguinal hernia, Short r...	OMIM:600972
Spondylocarpotarsal Synostosis Syndrome	Pectus carinatum, Hyperlordosis, Short metacarpal, Tarsal synostosis, Inguinal hernia, Bowed hume...	OMIM:272460
Kbg Syndrome	Radial deviation of finger, Ulnar deviation of the 2nd finger, Syndactyly, Cervical ribs, Long ph...	OMIM:148050
Spondyloepimetaphyseal Dysplasia Congenita, Strudwick Type	Restricted large joint movement, Abnormal vertebral morphology, Small epiphyses, Flared metaphysi...	ORPHA:93346
Renal Hypodysplasia/Aplasia 4	Pulmonary hypoplasia	OMIM:619887
Neurooculocardiogenitourinary Syndrome	Microphthalmia, Patent foramen ovale, Downturned corners of mouth, Smooth philtrum, Patent ductus...	OMIM:618652
Heterotaxy, Visceral, 6, Autosomal	Situs inversus totalis, Transposition of the great arteries, Dextrocardia, Right aortic arch, Tot...	OMIM:614779
Kaufman Oculocerebrofacial Syndrome	Intestinal malrotation, Carious teeth, Thin upper lip vermilion, Long palm, Clinodactyly of the 5...	OMIM:244450
Cleft Palate, Cardiac Defect, Genital Anomalies, And Ectrodactyly	Death in childhood, Clubbing, Split hand, Cryptorchidism, Cleft upper lip, Coarctation of aorta, ...	OMIM:600460
Interstitial Pneumonitis, Desquamative, Familial	Respiratory distress, Type II pneumocyte hypertrophy, Recurrent upper respiratory tract infection...	OMIM:263000
1Q21.1 Microdeletion Syndrome	Microphthalmia, Clinodactyly of the 5th finger, Inguinal hernia, Joint hypermobility, Interrupted...	ORPHA:250989
Myotubular Myopathy With Abnormal Genital Development	Retrognathia, Atelectasis, Respiratory distress, Thin ribs, High palate, Bilateral cryptorchidism...	OMIM:300219
Renal Hypodysplasia/Aplasia 2	Pulmonary hypoplasia	OMIM:615721
Ring Chromosome 10 Syndrome	Thin vermilion border, Microphthalmia, Aganglionic megacolon, Sandal gap, Downslanted palpebral f...	ORPHA:1438
Chime Syndrome	Aplasia/Hypoplasia of the phalanges of the toes, Microdontia, Aplasia/Hypoplasia of the phalanges...	ORPHA:3474
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome	Narrow greater sciatic notch, Limited elbow movement, Enlarged metaphyses, Short metacarpal, Kyph...	ORPHA:508533
Nijmegen Breakage Syndrome	Sandal gap, T lymphocytopenia, Sinusitis, Cleft palate, Recurrent pneumonia, Deep philtrum, Autoi...	OMIM:251260
Postaxial Polydactyly-Dental And Vertebral Anomalies Syndrome	Clinodactyly of the 5th finger, Abnormal form of the vertebral bodies, Abnormal dental enamel mor...	ORPHA:2916
Autosomal Dominant Intellectual Disability-Craniofacial Anomalies-Cardiac Defects Syndrome	Patent ductus arteriosus, Gastroesophageal reflux, Cryptorchidism, Intestinal malrotation, Ptosis...	ORPHA:457193
Teebi Hypertelorism Syndrome 2	Clinodactyly of the 5th finger, Upper eyelid coloboma, Delayed eruption of teeth, Wide anterior f...	OMIM:619736
Lenz-Majewski Hyperostotic Dwarfism	Abnormal finger morphology, Kyphosis, Bifid uvula, Wide mouth, Symphalangism affecting the phalan...	ORPHA:2658
Mucopolysaccharidosis, Type Iiib	Hepatomegaly, Dense calvaria, Asymmetric septal hypertrophy, Joint stiffness, Synophrys, Ovoid th...	OMIM:252920
Hardikar Syndrome	Hematemesis, Bilateral cleft palate, Intrahepatic bile duct dilatation, Cholestasis, Intestinal m...	OMIM:301068
Viss Syndrome	Rocker bottom foot, Ectropion, Retrognathia, Pulmonary artery aneurysm, Iliac artery aneurysm, Ar...	OMIM:619472
Al-Gazali-Bakalinova Syndrome	Polydactyly, Genu valgum, Triangular mouth, Inguinal hernia, Pectus carinatum, Pectus excavatum, ...	OMIM:607131
Manitoba Oculotrichoanal Syndrome	Microphthalmia, Anal stenosis, Corneopalpebral synechiae, Anophthalmia, Omphalocele, Cryptophthal...	OMIM:248450
Ablepharon Macrostomia Syndrome	Thin vermilion border, Breast hypoplasia, Excessive wrinkled skin, Absent eyelashes, Microdontia,...	ORPHA:920
Takenouchi-Kosaki Syndrome	Proximal placement of thumb, Highly arched eyebrow, Abnormal sternum morphology, Pulmonic stenosi...	OMIM:616737
Bohring-Opitz Syndrome	Retrognathia, Pectus excavatum, Cardiomegaly, Abnormal cardiac septum morphology, Fixed elbow fle...	ORPHA:97297
Hypophosphatasia, Adult	Rickets, Arthropathy, Osteomalacia, Carious teeth, Premature loss of primary teeth, Pathologic fr...	OMIM:146300
Van Der Woude Syndrome 1	Cleft upper lip, Bifid uvula, Cleft palate, Hypodontia, Lower lip pit	OMIM:119300
Mandibuloacral Dysplasia Progeroid Syndrome	Sandal gap, Pectus excavatum, Shallow orbits, Joint stiffness, Elevated hemoglobin A1c, Left vent...	OMIM:619127
Axenfeld-Rieger Syndrome	Anal stenosis, Telecanthus, Everted lower lip vermilion, Microdontia, Hypoplasia of the maxilla, ...	ORPHA:782
Spondylocostal Dysostosis 2, Autosomal Recessive	Hemivertebrae, Vertebral segmentation defect, Vertebral clefting, Rib fusion, Short neck, Recurre...	OMIM:608681
Maternal Uniparental Disomy Of Chromosome 2	Respiratory infections in early life, Decreased response to growth hormone stimulation test, Clin...	ORPHA:96179
Neurodevelopmental Disorder With Facial Dysmorphism, Absent Language, And Pseudo-Pelger-Huet Anomaly	Kyphoscoliosis, Thick lower lip vermilion, Clinodactyly of the 5th finger, Patent foramen ovale, ...	OMIM:620075
Robinow Syndrome, Autosomal Dominant 2	Kyphoscoliosis, Dental crowding, Broad thumb, Mesomelia, Wide mouth, Umbilical hernia, Long philt...	OMIM:616331
Mucolipidosis Iii Alpha/Beta	Carpal bone hypoplasia, Hepatomegaly, Spondylolisthesis, Inguinal hernia, Mandibular prognathia, ...	OMIM:252600
Tetraploidy	Radial club hand, Short philtrum, Micrognathia, Cleft palate, Aplasia/Hypoplasia of the thymus, A...	ORPHA:3305
Intellectual Developmental Disorder, Autosomal Dominant 48	Dysgenesis of the cerebellar vermis, Cerebellar vermis hypoplasia, Polymicrogyria, Dilated fourth...	OMIM:617751
Wormian Bone-Multiple Fractures-Dentinogenesis Imperfecta-Skeletal Dysplasia	Abnormal cortical bone morphology, Pathologic fracture, Upper limb undergrowth, Limitation of joi...	ORPHA:166277
Hallermann-Streiff Syndrome	Hyperlordosis, Everted lower lip vermilion, Pectus excavatum, Joint hypermobility, Telangiectasia...	OMIM:234100
Oculoauriculofrontonasal Syndrome	Upper eyelid coloboma, Scoliosis, Narrow mouth, Micrognathia, Cleft palate, Broad philtrum, Peric...	ORPHA:398156
Microphthalmia, Syndromic 11	Cleft upper lip, Microphthalmia, Cleft palate	OMIM:614402
Trichorhinophalangeal Syndrome, Type Ii	Cone-shaped epiphyses of the phalanges of the hand, Short metacarpal, Pectus excavatum, 2-4 toe s...	OMIM:150230
Noonan Syndrome 10	Pectus carinatum, Pectus excavatum, Pulmonic stenosis, Mitral valve prolapse, Left ventricular hy...	OMIM:616564
Pai Syndrome	Telecanthus, Abnormal oral frenulum morphology, Midline central nervous system lipomas, Downslant...	ORPHA:1993
Cardiac-Urogenital Syndrome	Congenital diaphragmatic hernia, Mesocardia, Coronary sinus enlargement, Intestinal malrotation, ...	OMIM:618280
Shwachman-Diamond Syndrome 2	Normocytic anemia, Hepatomegaly, Hyperechogenic pancreas, Steatorrhea, Death in childhood, High p...	OMIM:617941
Infant Acute Respiratory Distress Syndrome	Pulmonary edema, Atelectasis, Nasal flaring, Hypoxemia, Respiratory tract infection, Pneumonia, T...	ORPHA:70587
Filippi Syndrome	Thin vermilion border, Short philtrum, Single transverse palmar crease, Serrated incisors, Ventri...	OMIM:272440
Cranioectodermal Dysplasia 1	Radial deviation of finger, Short ribs, Everted lower lip vermilion, Microdontia, Pectus excavatu...	OMIM:218330
Iniencephaly	Rocker bottom foot, Orofacial cleft, Congenital diaphragmatic hernia, Gastroschisis, Rhizomelia, ...	ORPHA:63259
Diffuse Gastric And Lobular Breast Cancer Syndrome	Cleft upper lip, Cleft palate, Atrophic gastritis, Stomach cancer	OMIM:137215
Ifap Syndrome 1, With Or Without Bresheck Syndrome	Death in infancy, Umbilical hernia, Hip dislocation, Butterfly vertebrae, Aganglionic megacolon, ...	OMIM:308205
Kallmann Syndrome-Heart Disease Syndrome	Osteopenia, Midgut malrotation, Right aortic arch, Anomalous origin of left coronary artery from ...	ORPHA:2326
Autosomal Dominant Robinow Syndrome	Retrognathia, Abnormal form of the vertebral bodies, Pectus carinatum, Pectus excavatum, Umbilica...	ORPHA:3107
Potocki-Shaffer syndrome	Delayed cranial suture closure	DECIPHER:34
Global Developmental Delay-Alopecia-Macrocephaly-Facial Dysmorphism-Structural Brain Anomalies Syndrome	Bilateral ptosis, Retrognathia, Sacral dimple, Clinodactyly of the 5th finger, Tapered toe, Dilat...	ORPHA:544488
Atelis Syndrome 1	Anemia, Lumbar kyphosis, High palate, Bronchiectasis, Carious teeth, Downslanted palpebral fissur...	OMIM:620184
Tbck-Related Intellectual Disability Syndrome	Pectus excavatum, Pulmonic stenosis, Long philtrum, Clinodactyly, Decreased response to growth ho...	ORPHA:488632
Phosphoserine Aminotransferase Deficiency, Infantile/Juvenile Form	Ankle flexion contracture, Cyanotic episode, Bilateral talipes equinovarus, Short neck, Micrognat...	ORPHA:284417
Robinow Syndrome	Kyphoscoliosis, Mesomelic arm shortening, Acromesomelia, Broad alveolar ridges, Dental crowding, ...	ORPHA:97360
Bryant-Li-Bhoj Neurodevelopmental Syndrome 1	Dilation of Virchow-Robin spaces, Everted lower lip vermilion, Broad thumb, Wide mouth, Broad phi...	OMIM:619720
Aortic Arch Interruption	Transposition of the great arteries, Cyanosis, Patent ductus arteriosus, Aortic valve atresia, Re...	ORPHA:2299
Chronic Granulomatous Disease	Liver abscess, Mediastinal lymphadenopathy, Hepatomegaly, Cutaneous photosensitivity, Gingivitis,...	ORPHA:379
Microcephaly, Cerebellar Hypoplasia, And Cardiac Conduction Defect Syndrome	Thick lower lip vermilion, Clinodactyly of the 5th finger, Joint contracture of the 5th finger, L...	OMIM:614407
Partial Atrioventricular Septal Defect	Abnormal tricuspid valve morphology, Bacterial endocarditis, Coronary sinus enlargement, Transien...	ORPHA:1330
Intellectual Disability, Birk-Barel Type	High, narrow palate, Limited elbow flexion/extension, Sacral dimple, Foot joint contracture, Shor...	ORPHA:166108
Heart And Brain Malformation Syndrome	High, narrow palate, Thick lower lip vermilion, Microphthalmia, Interrupted aortic arch, Wide ant...	OMIM:616920
Short Stature-Micrognathia Syndrome	Retrognathia, Rhizomelia, Gastroesophageal reflux, 2-3 toe syndactyly, High palate, Cryptorchidis...	OMIM:617164
Brachycephaly, Deafness, Cataract, Microstomia, And Impaired Intellectual Development	Rocker bottom foot, Breast hypoplasia, Pectus excavatum of inferior sternum, Superior pectus cari...	OMIM:601353
Diabetic Embryopathy	Transposition of the great arteries, Vertebral segmentation defect, Abnormal aortic morphology, V...	ORPHA:1926
Larsen-Like Syndrome, Lethal Type	Multiple joint dislocation, Joint dislocation, Tracheomalacia, Neonatal death, Pulmonary hypoplasia	OMIM:245650
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency	Rocker bottom foot, Abnormal ovarian morphology, Proximal tibial and fibular fusion, Femoral bowi...	ORPHA:95699
Ogden Syndrome	High, narrow palate, Everted upper lip vermilion, Inguinal hernia, Delayed cranial suture closure...	ORPHA:276432
Acromelic Frontonasal Dysplasia	Patellar hypoplasia, Telecanthus, Anterior pituitary hypoplasia, Median cleft palate, Ptosis, Apl...	ORPHA:1827
Heterotaxy, Visceral, 7, Autosomal	Hypoplasia of right ventricle, Situs inversus totalis, Transposition of the great arteries, Abnor...	OMIM:616749
Acromesomelic Dysplasia 2A	Hypoplasia of the ulna, Hypoplasia of the radius, Fibular hypoplasia, Aplasia/Hypoplasia of metat...	OMIM:200700
Tatton-Brown-Rahman Syndrome	Talipes valgus, Atrial septal defect, Everted upper lip vermilion, Thin vermilion border, Patella...	OMIM:615879
Arrhinia-Choanal Atresia-Microphthalmia Syndrome	Microphthalmia, Inguinal hernia, High palate, Tooth agenesis, Cleft palate	ORPHA:1135
Ichthyosis Follicularis-Alopecia-Photophobia Syndrome	Cheilitis, Oligodactyly, Kyphosis, Abnormality of the hand, Aganglionic megacolon, Inguinal herni...	ORPHA:2273
Loeys-Dietz Syndrome 6	Congenital diaphragmatic hernia, Arterial tortuosity, Abnormal sternum morphology, Ventricular hy...	OMIM:619656
Bresek Syndrome	Microphthalmia, Aganglionic megacolon, Optic nerve hypoplasia, Scoliosis, Hemivertebrae, Postaxia...	ORPHA:85284
Hypomandibular Faciocranial Dysostosis	Recurrent respiratory infections, Maxillozygomatic hypoplasia, Narrow mouth, Death in infancy, Do...	ORPHA:1790
Spondyloepimetaphyseal Dysplasia, Faden-Alkuraya Type	Limited elbow extension, Osteopenia, Carpal bone hypoplasia, Platyspondyly, Small epiphyses, Cran...	OMIM:616723
Thoracolaryngopelvic Dysplasia	Bell-shaped thorax, Hypoplastic iliac wing, Scoliosis, Short ribs, Hypoplastic pelvis, Irregular ...	OMIM:187760
Idiopathic Congenital Hypothyroidism	Delayed cranial suture closure, Delayed proximal femoral epiphyseal ossification, Prolonged neona...	ORPHA:95717
Neurodevelopmental Disorder With Poor Growth And Skeletal Anomalies	High, narrow palate, Short philtrum, Everted lower lip vermilion, Synophrys, Broad thumb, Thick v...	OMIM:619880
Cree Mental Retardation Syndrome	Rocker bottom foot, Cleft soft palate, Pectus excavatum, Cutaneous finger syndactyly, Aplasia/Hyp...	OMIM:606851
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate Syndrome	Widely spaced teeth, Clinodactyly of the 5th finger, Delayed eruption of teeth, Finger syndactyly...	ORPHA:1071
Robinow Syndrome, Autosomal Dominant 1	Retrognathia, Radial deviation of finger, Dislocated radial head, Dental crowding, Short long bon...	OMIM:180700
Cole-Carpenter Syndrome 1	Osteopenia, Reduced bone mineral density, Vertebral compression fracture, Scoliosis, Microdontia,...	OMIM:112240
Doors Syndrome	Bilateral ptosis, Aplasia/Hypoplasia of the phalanges of the 2nd toe, Broad alveolar ridges, Abno...	ORPHA:79500
Distal Duplication 17Q	Pectus carinatum, Arachnodactyly, Abnormal heart morphology, Wide mouth, Joint hypermobility, Ove...	ORPHA:3379
Cataracts, Hearing Impairment, Nephrotic Syndrome, And Enterocolitis 1	Death in childhood, Decreased pineal volume, Hypoplasia of the maxilla, Bone marrow hypocellulari...	OMIM:301108
Temtamy Syndrome	Microphthalmia, Aortic aneurysm, Highly arched eyebrow, Dental crowding, Short 2nd toe, Hypoplasi...	OMIM:218340
Microphthalmia-Microtia-Fetal Akinesia Syndrome	Microphthalmia, Limitation of joint mobility, Camptodactyly of finger, Duodenal stenosis, Symphal...	ORPHA:2547
Peters Plus Syndrome	Pulmonic stenosis, Wide mouth, Umbilical hernia, Long philtrum, Abnormal cardiac septum morpholog...	ORPHA:709
Methemoglobinemia, Beta Type	Cyanosis, Methemoglobinemia	OMIM:617971
Methemoglobinemia, Alpha Type	Cyanosis, Methemoglobinemia	OMIM:617973
Genitourinary And/Or Brain Malformation Syndrome	Ileal atresia, Short palpebral fissure, Kyphoscoliosis, Streak ovary, Cryptorchidism, Joint stiff...	OMIM:618820
Acrofacial Dysostosis, Catania Type	Bilateral single transverse palmar creases, Abnormal palate morphology, Tessier cleft, Clinodacty...	ORPHA:1786
Loeys-Dietz Syndrome 2	Retrognathia, Pulmonary artery aneurysm, Arterial tortuosity, Descending thoracic aorta aneurysm,...	OMIM:610168
Aase-Smith Syndrome I	Slender finger, Death in infancy, Ptosis, Cleft palate, Flexion contracture, Open mouth, Ventricu...	OMIM:147800
Intellectual Disability-Brachydactyly-Pierre Robin Syndrome	Short palpebral fissure, Abnormality of canine, Aplasia of the distal phalanx of the 5th toe, Mic...	ORPHA:364577
Chronic Recurrent Multifocal Osteomyelitis 2, With Periostitis And Pustulosis	Periostitis, Osteopenia, Hepatomegaly, Fused cervical vertebrae, Respiratory distress, Stomatitis...	OMIM:612852
Thin Ribs-Tubular Bones-Dysmorphism Syndrome	Abnormal palate morphology, Abnormal pelvic girdle bone morphology, Abnormal rib morphology, Slen...	ORPHA:1506
Chromosome 8Q21.11 Deletion Syndrome	Lozenge-shaped umbilicus, Short palpebral fissure, Microphthalmia, Short philtrum, Exaggerated cu...	OMIM:614230
Genitopatellar Syndrome	Hypoplastic ischia, Dysphagia, Malrotation of small bowel, Patellar dislocation, Scoliosis, Crypt...	OMIM:606170
Marbach-Rustad Progeroid Syndrome	Femur fracture, Ventricular septal hypertrophy, Reduced bone mineral density, Short clavicles, Er...	OMIM:619322
8Q21.11 Microdeletion Syndrome	Microphthalmia, Abnormal metacarpal morphology, Short philtrum, Finger syndactyly, Exaggerated cu...	ORPHA:284160
Pitt-Hopkins Syndrome	Narrow foot, Upslanted palpebral fissure, Wide mouth, Aganglionic megacolon, Short philtrum, Toot...	ORPHA:2896
X-Linked Intellectual Disability, Nascimento Type	Thin vermilion border, Patent foramen ovale, Abnormal vena cava morphology, Upslanted palpebral f...	ORPHA:163956
Dominant Beta-Thalassemia	Splenomegaly, Decreased mean corpuscular volume, Hypersplenism, Jaundice, Hepatocellular carcinom...	ORPHA:231226
Thrombocytopenia 8, With Dysmorphic Features And Developmental Delay	Platelet anisocytosis, Patent ductus arteriosus, Broad eyebrow, Telecanthus, High palate, Long ey...	OMIM:620475
Down Syndrome	Bilateral single transverse palmar creases, Sandal gap, Microdontia, Umbilical hernia, Joint hype...	ORPHA:870
Contractures-Ectodermal Dysplasia-Cleft Lip/Palate Syndrome	Non-midline cleft of the upper lip, Cleft palate, Limitation of joint mobility, Arthrogryposis mu...	ORPHA:1484
Osteogenesis Imperfecta, Type Ii	Absent ossification of calvaria, Platyspondyly, Bell-shaped thorax, Crumpled long bones, Thin rib...	OMIM:166210
Orofaciodigital Syndrome Iv	Short finger, Short tibia, High palate, Tongue nodules, Pectus excavatum, Foot polydactyly, Posta...	OMIM:258860
Mesomelic Dysplasia, Nievergelt Type	Bilateral single transverse palmar creases, Abnormal fibula morphology, Tarsal synostosis, Abnorm...	ORPHA:2633
Cleft, Median, Of Upper Lip With Polyps Of Facial Skin And Nasal Mucosa	High palate, Midline central nervous system lipomas, Downslanted palpebral fissures, Bifid uvula,...	OMIM:155145
Kinsship Syndrome	Dislocated radial head, Death in infancy, Mesomelia, Wide mouth, Cervical ribs, Coxa valga, Hip d...	OMIM:619297
Cloacal Exstrophy	Abnormal fibula morphology, Abnormal tibia morphology, Intestinal duplication, Absent foot, Hemiv...	ORPHA:93929
Surfactant Metabolism Dysfunction, Pulmonary, 2	Respiratory distress, Intraalveolar phospholipid accumulation, Clubbing, Nonspecific interstitial...	OMIM:610913
Developmental And Epileptic Encephalopathy 66	Widely spaced teeth, Anemia, Dextrocardia, Clinodactyly of the 5th finger, Everted lower lip verm...	OMIM:618067
Acromesomelic Dysplasia, Hunter-Thompson Type	Bilateral single transverse palmar creases, Tarsal synostosis, Acromesomelia, Abnormally shaped c...	ORPHA:968
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies	Multiple joint dislocation, Dental crowding, Hyperlordosis, Cholestasis, Internally rotated shoul...	OMIM:619503
Non-Syndromic Posterior Hypospadias	Congenital diaphragmatic hernia, Esophageal atresia, Anal atresia, Omphalocele, Cleft palate, Cry...	ORPHA:95706
Occipital Horn Syndrome	Pectus carinatum, Broad clavicles, Limited knee extension, Pectus excavatum, Kyphosis, Persistent...	OMIM:304150
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 2	11 pairs of ribs, Oral-pharyngeal dysphagia, Bicoronal synostosis, Tracheobronchomalacia, Patent ...	OMIM:619184
Bone Marrow Failure Syndrome 3	Aplastic anemia, Hyperechogenic pancreas, Reduced bone mineral density, Microdontia, Bone marrow ...	OMIM:617052
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked	Kyphoscoliosis, HbH hemoglobin, Radial deviation of finger, Kyphosis, Umbilical hernia, Clinodact...	OMIM:301040
Spondylometaphyseal Dysplasia With Cone-Rod Dystrophy	Narrow greater sciatic notch, Femoral bowing, Tibial bowing, Cupped ribs, Short long bone, Short ...	OMIM:608940
Acute Interstitial Pneumonia	Reduced hematocrit, Atelectasis, Lymphadenopathy, Cyanosis, Pleural effusion, Bronchiectasis, Per...	ORPHA:79126
Kyphoscoliotic Ehlers-Danlos Syndrome Due To Lysyl Hydroxylase 1 Deficiency	Thoracic kyphoscoliosis, Pectus excavatum, Arterial dissection, Mitral valve prolapse, Umbilical ...	ORPHA:1900
Werner Syndrome	Rocker bottom foot, Premature graying of hair, Lipoatrophy, Miscarriage, Joint stiffness, Abnorma...	ORPHA:902
Pontocerebellar Hypoplasia, Type 12	Rocker bottom foot, Death in infancy, Micrognathia, Joint contracture, Overlapping fingers, Talip...	OMIM:618266
Gm1 Gangliosidosis Type 1	Long philtrum, Beaking of vertebral bodies T12-L3, Platyspondyly, Spatulate ribs, Broad long bone...	ORPHA:79255
Loeys-Dietz Syndrome 1	Retrognathia, Pulmonary artery aneurysm, Arterial tortuosity, Descending thoracic aorta aneurysm,...	OMIM:609192
1Q44 Microdeletion Syndrome	Thin vermilion border, Optic disc hypoplasia, Telecanthus, Scoliosis, Exaggerated cupid's bow, Hi...	ORPHA:238769
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 2	Kyphoscoliosis, Pectus excavatum, Joint hypermobility, Hip dislocation, Cleft palate, Dysplasia o...	OMIM:615349
Momo Syndrome	Long foot, Thick lower lip vermilion, Delayed eruption of teeth, High palate, Short sternum, Down...	OMIM:157980
Acromesomelic Dysplasia 1	Cone-shaped epiphyses of the phalanges of the hand, Short metacarpal, Broad metatarsal, Joint hyp...	OMIM:602875
Microphthalmia-Ankyloblepharon-Intellectual Disability Syndrome	Microphthalmia, Anophthalmia, Ankyloblepharon	ORPHA:85275
Roberts-Sc Phocomelia Syndrome	Radial deviation of finger, Wrist flexion contracture, Shallow orbits, Biliary tract abnormality,...	OMIM:268300
Sotos Syndrome	Prolonged neonatal jaundice, Joint hypermobility, Narrow palate, Advanced eruption of teeth, Musc...	OMIM:117550
Jansen-De Vries Syndrome	Gastroesophageal reflux, Central diaphragmatic hernia, Hyperlordosis, Thin upper lip vermilion, W...	OMIM:617450
Kenny-Caffey Syndrome, Type 1	Long clavicles, Thin clavicles, Anemia, Calvarial osteosclerosis, Congenital hypoparathyroidism, ...	OMIM:244460
Spondyloepimetaphyseal Dysplasia, Shohat Type	Generalized bone demineralization, Short long bone, Hyperlordosis, Metaphyseal irregularity, Abno...	ORPHA:93352
46,Xx Sex Reversal With Dysgenesis Of Kidneys, Adrenals, And Lungs	Congenital diaphragmatic hernia, Bilateral lung agenesis, Pulmonary artery stenosis, Congenital p...	OMIM:611812
Microcephaly, Short Stature, And Polymicrogyria With Or Without Seizures	Situs inversus totalis, Microphthalmia, Optic nerve hypoplasia, Thin ribs, Narrow mouth, Flexion ...	OMIM:614833
X-Linked Intellectual Disability, Porteous Type	Hypoplasia of the maxilla, Mandibular prognathia, Short philtrum	ORPHA:93945
Proximal Xq28 Duplication Syndrome	Everted lower lip vermilion, Pectus excavatum, Joint stiffness, Ptosis, Hernia of the abdominal w...	ORPHA:1762
Ehlers-Danlos Syndrome, Periodontal Type, 1	Gingival fragility, Alveolar bone loss around teeth, Arachnodactyly, Umbilical hernia, Joint hype...	OMIM:130080
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome	Microphthalmia, Abnormal vertebral morphology, 11 pairs of ribs, Esophageal atresia, Anophthalmia...	ORPHA:77298
Coffin-Siris Syndrome 1	Congenital diaphragmatic hernia, Duodenal ulcer, Retrognathia, Sandal gap, Dislocated radial head...	OMIM:135900
Blepharocheilodontic Syndrome 2	Conical tooth, Euryblepharon, Distichiasis, Tooth agenesis, Ectropion of lower eyelids, Lagophtha...	OMIM:617681
Holoprosencephaly 7	Microphthalmia, Bilateral microphthalmos, Solitary median maxillary central incisor, Bilateral cl...	OMIM:610828
Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart	Broad alveolar ridges, Syndactyly, Patent foramen ovale, Scoliosis, Furrowed tongue, Downslanted ...	OMIM:616975
Noonan Syndrome 8	Patent ductus arteriosus, Palmoplantar cutis laxa, Abnormal sternum morphology, Pleural effusion,...	OMIM:615355
Angelman Syndrome	Widely spaced teeth, Mandibular prognathia, Scoliosis, Protruding tongue, Hypoplasia of the maxil...	OMIM:105830
Holoprosencephaly-Caudal Dysgenesis Syndrome	Radial club hand, Cleft palate, Abnormal cerebral vascular morphology, Abnormal morphology of the...	ORPHA:2165
Familial Thoracic Aortic Aneurysm And Aortic Dissection	Retrognathia, Descending thoracic aorta aneurysm, Abnormality of connective tissue, Abnormal ster...	ORPHA:91387
Plaa-Associated Neurodevelopmental Disorder	Rocker bottom foot, Hyperextensibility of the finger joints, Single transverse palmar crease, Pec...	ORPHA:521426
Joubert Syndrome 7	Genu valgum, Scoliosis, Postaxial hand polydactyly, Postaxial polydactyly, Ptosis, Tachypnea, Cen...	OMIM:611560
Orofaciodigital Syndrome Type 6	Mesoaxial polydactyly, Highly arched eyebrow, Abnormal oral frenulum morphology, Abnormal heart m...	ORPHA:2754
Impaired Intellectual Development And Distinctive Facial Features With Or Without Cardiac Defects	Transposition of the great arteries, Patent foramen ovale, Everted lower lip vermilion, Wide mout...	OMIM:616789
Congenital Disorder Of Glycosylation, Type Iil	Retrognathia, Cirrhosis, Hepatomegaly, Patent ductus arteriosus, Pancytopenia, Esophageal varix, ...	OMIM:614576
Mucopolysaccharidosis Type 3	Reduced bone mineral density, Abnormal form of the vertebral bodies, Joint stiffness, Abnormal mi...	ORPHA:581
Oculogastrointestinal Neurodevelopmental Syndrome	Bilateral microphthalmos, Sacral dimple, Hemivertebrae, Unilateral microphthalmos, Anal atresia, ...	OMIM:619318
Dysosteosclerosis	Abnormal metaphysis morphology, Craniofacial hyperostosis, Delayed eruption of teeth, Increased b...	ORPHA:1782
Osteogenesis Imperfecta, Type I	Osteopenia, Aortic aneurysm, Femoral bowing, Biconcave flattened vertebrae, Dentinogenesis imperf...	OMIM:166200
Enlarged Parietal Foramina	Venous malformation, Short clavicles, Broad thumb, Cleft palate, Abnormal cerebral vein morpholog...	ORPHA:60015
Recon Progeroid Syndrome	Thin vermilion border, Progeroid facial appearance, Anemia, Proximal placement of thumb, Livedo r...	OMIM:620370
Microphthalmia/Coloboma 5	Bilateral microphthalmos, Orofacial cleft, Microphthalmia, Anophthalmia	OMIM:611638
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 11	Cerebellar cyst, Hydrocephalus, Polymicrogyria, Type II lissencephaly, Cerebellar dysplasia, Hypo...	OMIM:615181
Weiss-Kruszka Syndrome	Clinodactyly of the 5th finger, Proximal placement of thumb, Highly arched eyebrow, Exaggerated c...	OMIM:618619
X-Linked Cerebral-Cerebellar-Coloboma Syndrome	Retrognathia, Meckel diverticulum, Micrognathia, Supernumerary ribs, Dysphagia, Apneic episodes i...	ORPHA:163961
Matthew-Wood Syndrome	Congenital diaphragmatic hernia, Annular pancreas, Aplasia/Hypoplasia of the pancreas, Abnormal s...	ORPHA:2470
Multiple Acyl-Coa Dehydrogenase Deficiency	Hepatomegaly, Jaundice, Telecanthus, Respiratory distress, Wide anterior fontanel, Hepatic peripo...	OMIM:231680
Diprosopus	Non-midline cleft of the upper lip, Cleft palate, Abnormal cardiac septum morphology	ORPHA:1681
Histiocytosis-Lymphadenopathy Plus Syndrome	Rocker bottom foot, Retrognathia, Flexion contracture of toe, Joint contracture of the 5th finger...	OMIM:602782
Joubert Syndrome 14	Microphthalmia, Short philtrum, Highly arched eyebrow, Postaxial polydactyly, Ptosis, Downslanted...	OMIM:614424
Branchio-Oculo-Facial Syndrome	Premature graying of hair, Orofacial cleft, Non-midline cleft of the upper lip, High palate, Ever...	ORPHA:1297
Oeis Complex	Cloacal exstrophy, 11 pairs of ribs, Rectovaginal fistula, Hemivertebrae, Anal atresia, Congenita...	OMIM:258040
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome	Shallow orbits, Abnormal heart morphology, Bifid uvula, Bicuspid aortic valve, Craniosynostosis, ...	ORPHA:453499
Mgat2-Cdg	Osteopenia, Impaired lymphocyte transformation with phytohemagglutinin, Gastroesophageal reflux, ...	ORPHA:79329
Hereditary Acrokeratotic Poikiloderma	Ectropion, Abnormal hip bone morphology, Joint hypermobility, Abnormal metacarpal morphology, Abn...	ORPHA:2907
Branchiooculofacial Syndrome	Premature graying of hair, Proximal placement of thumb, Hyperlordosis, Kyphosis, Malrotation of c...	OMIM:113620
Autosomal Recessive Hypophosphatemic Rickets	Pseudo-fractures, Hypophosphatemic rickets, Sclerotic vertebral endplates, Rickets of the lower l...	ORPHA:289176
Radius, Aplasia Of, With Cleft Lip/Palate	Absent radius, Cleft upper lip, Cleft palate	OMIM:179400
Venular Insufficiency, Systemic	Cyanosis	OMIM:192700
Sulfhemoglobinemia, Congenital	Cyanosis	OMIM:185460
Cataract-Intellectual Disability-Anal Atresia-Urinary Defects Syndrome	Abnormal palate morphology, Genu valgum, Aplasia/Hypoplasia of the lens, Anal atresia, Tetralogy ...	ORPHA:1381
Faciodigitogenital Syndrome, Autosomal Recessive	Pectus excavatum, Wide mouth, Syndactyly, Narrow palate, Inguinal hernia, Camptodactyly, Downslan...	OMIM:227330
Autosomal Dominant Myopia-Midfacial Retrusion-Sensorineural Hearing Loss-Rhizomelic Dysplasia Syndrome	Rhizomelia, Narrow chest, Femoral bowing, Glossoptosis, Dumbbell-shaped long bone, Micromelia, Mi...	ORPHA:440354
Classic Glucose Transporter Type 1 Deficiency Syndrome	Cyanosis, Abnormal erythrocyte morphology, Central apnea	ORPHA:71277
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 2	Spinal rigidity, Microphthalmia, Scoliosis, Congenital contracture, Death in infancy, Cleft upper...	OMIM:613150
Thiemann Disease	Short phalanx of finger, Broad phalanx	OMIM:165700
Trisomy X	Clinodactyly of the 5th finger, Pectus excavatum, Epicanthus, Hip dysplasia, Joint hypermobility,...	ORPHA:3375
Cardiomyopathy-Hypotonia-Lactic Acidosis Syndrome	Cyanosis, Hypertrophic cardiomyopathy, Respiratory distress	ORPHA:91130
Vici Syndrome	Everted upper lip vermilion, Cardiomyopathy, T lymphocytopenia, Leukopenia, Dysphagia, Abnormal t...	OMIM:242840
Ectodermal Dysplasia 1, Hypohidrotic, X-Linked	Everted upper lip vermilion, Respiratory distress, Conical tooth, Periorbital wrinkles, Absent ey...	OMIM:305100
Tyshchenko Syndrome	Narrow palate, High, narrow palate, Narrow chest, High palate, Pectus excavatum, Cryptorchidism, ...	OMIM:615102
Hypertrophic Osteoarthropathy, Primary, Autosomal Recessive, 1	Osteopenia, Large fontanelles, Osteolytic defects of the phalanges of the hand, Arthritis, Arthro...	OMIM:259100
Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To 5Q31.3 Microdeletion	Polydactyly, Telecanthus, Respiratory distress, High palate, Aspiration pneumonia, Prominent meto...	ORPHA:314655
Wrinkly Skin Syndrome	Deep plantar creases, Neonatal wrinkled skin of hands and feet, Pectus excavatum, Microdontia, Ky...	OMIM:278250
Beta-Thalassemia Major	Anemia of inadequate production, Splenomegaly, Decreased mean corpuscular volume, Jaundice, Hepat...	ORPHA:231214
Lissencephaly Type 3-Metacarpal Bone Dysplasia Syndrome	Epiphyseal stippling, Abnormal bone structure, Short metacarpal, Pulmonary hypoplasia, Short dist...	ORPHA:86822
Macrothrombocytopenia-Lymphedema-Developmental Delay-Facial Dysmorphism-Camptodactyly Syndrome	Proximal placement of thumb, Highly arched eyebrow, Abnormal sternum morphology, Abnormal heart m...	ORPHA:487796
Transaldolase Deficiency	Wide mouth, Splenomegaly, Micronodular cirrhosis, Telangiectasia, Short philtrum, Pancytopenia, P...	OMIM:606003
Fryns Microphthalmia Syndrome	Tessier cleft, Microphthalmia, Anophthalmia, Bilateral cleft palate, Bilateral cleft lip	OMIM:600776
Intellectual Developmental Disorder, Autosomal Dominant 73	Bilateral single transverse palmar creases, Retrognathia, Highly arched eyebrow, Hyperlordosis, E...	OMIM:620450
Combined Immunodeficiency-Enteropathy Spectrum	Autoimmune hemolytic anemia, Gastrointestinal atresia, Rectal abscess, Peritoneal abscess, Ventri...	ORPHA:436252
Lymphangiectasia, Intestinal	Stillbirth, Prominent floating ribs, Intestinal lymphangiectasia, Lymphopenia, Pedal edema	OMIM:152800
Hypohidrotic Ectodermal Dysplasia	Breast aplasia, Xerostomia, Abnormality of the dentition, Tooth agenesis, Sinusitis, Hypoplasia o...	ORPHA:238468
Limb Body Wall Complex	Congenital diaphragmatic hernia, Aplasia/hypoplasia involving bones of the upper limbs, Abnormal ...	ORPHA:2369
Spondylometaphyseal Dysplasia, Pagnamenta Type	Short 4th metacarpal, Wormian bones, Femoral bowing, Thoracic kyphosis, Broad thumb, Platyspondyl...	OMIM:619638
Phosphoserine Aminotransferase Deficiency	Apnea, Cyanotic episode, Death in infancy	OMIM:610992
Autoimmune Polyendocrine Syndrome, Type Ii	Cirrhosis, Steatorrhea, Iron deficiency anemia, Keratoconjunctivitis, Asplenia, Chronic hepatitis...	OMIM:269200
Chromosome 1P36 Deletion Syndrome, Proximal	Atrial septal defect, Broad eyebrow, Patent ductus arteriosus, Coronary artery fistula, Patent fo...	OMIM:619343
Infantile Multisystem Neurologic-Endocrine-Pancreatic Disease	Ulnar deviation of the 3rd finger, Abnormal liver parenchyma morphology, Abnormality of the hand,...	ORPHA:456312
Male Hypergonadotropic Hypogonadism-Intellectual Disability-Skeletal Anomalies Syndrome	Abnormal form of the vertebral bodies, Hemivertebrae, Abnormal rib morphology, Abnormality of the...	ORPHA:2234
Velocardiofacial Syndrome	Retrognathia, Right aortic arch with mirror image branching, Umbilical hernia, Abnormality of the...	OMIM:192430
Omodysplasia 1	Limited knee extension, Short humerus, Umbilical hernia, Long philtrum, Fibular hypoplasia, Axill...	OMIM:258315
Zimmermann-Laband Syndrome	Supernumerary tooth, Hepatomegaly, Telecanthus, Gingival fibromatosis, Anterior open-bite maloccl...	ORPHA:3473
Kyphoscoliotic Ehlers-Danlos Syndrome	Kyphoscoliosis, Pectus carinatum, Pectus excavatum, Arachnodactyly, Dislocated wrist, Umbilical h...	ORPHA:536545
Lambert Syndrome	Jaundice, Inguinal hernia, Intrahepatic biliary atresia, Branchial anomaly, Cholestasis, Wide mou...	ORPHA:1296
Baller-Gerold Syndrome	Limited elbow movement, Anomalous splenoportal venous system, Carpal bone aplasia, Oligodactyly, ...	OMIM:218600
Bardet-Biedl Syndrome 19	Y-shaped metacarpals, Partial atrioventricular canal defect, Postaxial polydactyly, Patent ductus...	OMIM:615996
Mucopolysaccharidosis, Type Ii	Pes cavus, Hepatomegaly, Thick lower lip vermilion, Widely spaced teeth, Intestinal pseudo-obstru...	OMIM:309900
Kindler Epidermolysis Bullosa	Ectropion, Cheilitis, Dysphagia, Abnormality of the anus, Short 4th metacarpal, Inflammation of t...	ORPHA:2908
Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 1	Kyphoscoliosis, Gastrointestinal hemorrhage, Dental crowding, Arachnodactyly, Joint hypermobility...	OMIM:225400
Sprengel Deformity	Cervical segmentation defect, Spina bifida occulta, Scoliosis, Hemivertebrae, Shoulder muscle hyp...	OMIM:184400
Acro-Renal-Ocular Syndrome	Microphthalmia, Sandal gap, Short humerus, Hypoplasia of the ulna, Aganglionic megacolon, Preaxia...	ORPHA:959
Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Anomalies	Rocker bottom foot, Single transverse palmar crease, Pectus carinatum, High palate, Kyphosis, Pos...	OMIM:617527
Atelis Syndrome 2	Short palpebral fissure, Microphthalmia, Thick lower lip vermilion, Sacral dimple, Anemia, High p...	OMIM:620185
Duane-Radial Ray Syndrome	Pectoralis hypoplasia, Sandal gap, Short humerus, Absent thumb, Syndactyly, Absent radius, Hypopl...	OMIM:607323
Baraitser-Winter Cerebrofrontofacial Syndrome	Osteochondrosis, Thin vermilion border, Palpebral edema, Large fontanelles, Telecanthus, Highly a...	ORPHA:2995
Lymphedema-Distichiasis Syndrome	Ectropion, Distichiasis, Cleft upper lip, Conjunctivitis, Cleft palate, Ptosis, Patent ductus art...	ORPHA:33001
Moyamoya Disease 4 With Short Stature, Hypergonadotropic Hypogonadism, And Facial Dysmorphism	Moyamoya phenomenon, Broad finger, Retrognathia, Decreased response to growth hormone stimulation...	OMIM:300845
Distal Duplication 5Q	Hypoplasia of the ulna, Hypoplasia of the radius, Thin vermilion border, Dextrocardia, Hernia, Na...	ORPHA:96097
Autosomal Recessive Malignant Osteopetrosis	Abnormal metaphysis morphology, Osteopetrosis, Reduced bone mineral density, Hepatomegaly, Lympha...	ORPHA:667
Craniosynostosis And Dental Anomalies	Narrow palate, Supernumerary tooth, Lambdoidal craniosynostosis, Dental malocclusion, Delayed eru...	OMIM:614188
Sonoda Syndrome	Ventricular septal defect, Narrow mouth, High axial triradius	OMIM:270460
Skin Creases, Congenital Symmetric Circumferential, 1	Short palpebral fissure, Microphthalmia, Narrow mouth, High palate, Long fingers, Cleft palate, E...	OMIM:156610
Fibulo-Ulnar Hypoplasia-Renal Anomalies Syndrome	Hypoplasia of the ulna, Finger syndactyly, Aplasia of the proximal phalanges of the hand, Short l...	ORPHA:2256
Seizures, Benign Familial Infantile, 3	Apnea, Cyanosis	OMIM:607745
Fanconi Anemia	Abnormal carotid artery morphology, Microphthalmia, Abnormal femur morphology, Arteriovenous malf...	ORPHA:84
Hypermobile Ehlers-Danlos Syndrome	Anorectal anomaly, Dental crowding, Microdontia, Arterial dissection, Arachnodactyly, Mitral valv...	ORPHA:285
Hyperphosphatasia-Intellectual Disability Syndrome	Highly arched eyebrow, Upslanted palpebral fissure, Pectus excavatum, Shortening of all distal ph...	ORPHA:247262
8P11.2 Deletion Syndrome	Sacral dimple, Patent ductus arteriosus, Talipes equinovarus, Spherocytosis, High palate, Microgn...	ORPHA:251066
Congenital Syphilis	Periostitis, Myocarditis, Osteochondrosis, Purpura, Pancreatitis, Anemia, Lymphadenopathy, Petech...	ORPHA:499009
16Q24.3 Microdeletion Syndrome	Solitary median maxillary central incisor, Proximal placement of thumb, Increased mean corpuscula...	ORPHA:261250
Spondylometaphyseal Dysplasia, 'Corner Fracture' Type	Abnormal bone ossification, Biconvex vertebral bodies, Reduced bone mineral density, Hypoplastic ...	ORPHA:93315
Seizures, Benign Familial Infantile, 1	Apnea, Cyanosis	OMIM:601764
Mosaic Variegated Aneuploidy Syndrome 2	Abnormal lung lobation, Short palpebral fissure, Decreased response to growth hormone stimulation...	OMIM:614114
Popliteal Pterygium Syndrome	Popliteal pterygium, Spina bifida occulta, Cutaneous finger syndactyly, Cleft upper lip, Bifid uv...	OMIM:119500
Lethal Omphalocele-Cleft Palate Syndrome	Cleft soft palate, Omphalocele, Bifid uvula, Unilateral cleft lip, Cleft palate	ORPHA:2736
Poems Syndrome	Hepatomegaly, Lymphadenopathy, Metaphyseal sclerosis, Clubbing of fingers, Pleural effusion, Scle...	ORPHA:2905
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome	Microphthalmia, Microdontia, Lymphopenia, Craniosynostosis, Accessory spleen, Patent foramen oval...	OMIM:620005
Pulmonary Capillary Hemangiomatosis	Pulmonary edema, Pulmonary capillary hemangiomatosis, Hemothorax, Mediastinal lymphadenopathy, Ly...	ORPHA:199241
Ornithine Transcarbamylase Deficiency	Pyloric stenosis, Splenomegaly	ORPHA:664
Noonan Syndrome-Like Disorder With Loose Anagen Hair 2	Highly arched eyebrow, Pectus carinatum, Pectus excavatum, Pulmonic stenosis, Bifid uvula, Joint ...	OMIM:617506
Acromelic Frontonasal Dysostosis	Dilation of Virchow-Robin spaces, Midline central nervous system lipomas, Syndactyly, Tubulonodul...	OMIM:603671
Costello Syndrome	Narrow palate, Thick lower lip vermilion, Gastroesophageal reflux, Abnormal dental enamel morphol...	ORPHA:3071
Antley-Bixler Syndrome Without Genital Anomalies Or Disordered Steroidogenesis	Rocker bottom foot, Lambdoidal craniosynostosis, Ulnar bowing, Narrow chest, Wide anterior fontan...	OMIM:207410
Osteogenesis Imperfecta-Retinopathy-Seizures-Intellectual Disability Syndrome	Wormian bones, Recurrent fractures	ORPHA:2773
Infantile Systemic Hyalinosis	Osteopenia, Steatorrhea, Gingival overgrowth, Osteomalacia, Osteoporosis, Abnormal dental morphol...	ORPHA:2176
Omphalocele Syndrome, Shprintzen-Goldberg Type	Telecanthus, Scoliosis, Abnormal eyelash morphology, Anal atresia, Omphalocele, Sparse lateral ey...	ORPHA:3164
Charcot-Marie-Tooth Disease, Axonal, Type 2Cc	Pyloric stenosis, Pes cavus, Upper limb amyotrophy	OMIM:616924
Craniorachischisis	Congenital diaphragmatic hernia, Sirenomelia, Bifid sternum, Anal atresia, Omphalocele	ORPHA:63260
Fanconi Anemia, Complementation Group G	Abnormal thumb morphology, Microphthalmia, Anemia, Thrombocytopenia, Leukemia, Neutropenia	OMIM:614082
20Q11.2 Microduplication Syndrome	Retrognathia, Palpebral edema, Pectus carinatum, Pectus excavatum, Abnormal oral frenulum morphol...	ORPHA:363659
Microcephaly And Chorioretinopathy, Autosomal Recessive, 2	Lumbar scoliosis, Microphthalmia, Thoracic scoliosis	OMIM:616171
Aneurysm-Osteoarthritis Syndrome	Retrognathia, Arterial tortuosity, Spondylolisthesis, Pectus carinatum, Pectus excavatum, Arteria...	ORPHA:284984
Cleft Palate-Congenital Heart Defect-Intellectual Disability Syndrome Due To 15Q14 Microdeletion	Short philtrum, Inguinal hernia, Scoliosis, Abnormality of the dentition, Kyphosis, Cleft palate,...	ORPHA:261190
Pontocerebellar Hypoplasia, Type 8	Talipes valgus, Pes cavus, Gastroesophageal reflux, Patent foramen ovale, Scoliosis, Ventricular ...	OMIM:614961
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 1	Palmoplantar cutis gyrata, Dislocated radial head, Pectus carinatum, Arachnodactyly, Bifid uvula,...	OMIM:130070
Methylmalonate Semialdehyde Dehydrogenase Deficiency	Microphthalmia, Short philtrum, High palate, Downslanted palpebral fissures, Broad hallux, Tented...	OMIM:614105
Epidermolysis Bullosa Simplex 5C, With Pyloric Atresia	Neonatal death, Flexion contracture, Fragile skin, Congenital pyloric atresia	OMIM:612138
Microphthalmia, Isolated 4	Postaxial polydactyly, Microphthalmia	OMIM:613094
Crane-Heise Syndrome	Finger syndactyly, Decreased skull ossification, Abnormally ossified vertebrae, Cryptorchidism, J...	ORPHA:1512
7Q11.23 Microduplication Syndrome	Congenital diaphragmatic hernia, Retrognathia, Pectus excavatum, Aortic valve stenosis, Cutis mar...	ORPHA:96121
Immunodeficiency 90 With Encephalopathy, Functional Hyposplenia, And Hepatic Dysfunction	Death in childhood, Howell-Jolly bodies, Portal inflammation, Pulmonary artery atresia, Hepatic b...	OMIM:613759
Colonic Atresia	Peptic ulcer, Omphalocele, Duodenal stenosis, Colonic atresia, Abnormal mesentery morphology, Gas...	ORPHA:1198
Rere-Related Neurodevelopmental Syndrome	Microphthalmia, Broad eyebrow, Scoliosis, Ptosis, Abnormal heart morphology, Epicanthus, Hip dysp...	ORPHA:494344
Fanconi Anemia, Complementation Group B	Aplastic anemia, Abnormal lung lobation, Abnormal vertebral morphology, Esophageal atresia, Trach...	OMIM:300514
Joubert Syndrome	Situs inversus totalis, Orofacial cleft, Aganglionic megacolon, Abnormal form of the vertebral bo...	ORPHA:475
Developmental And Epileptic Encephalopathy 85 With Or Without Midline Brain Defects	Congenital diaphragmatic hernia, Retrognathia, Solitary median maxillary central incisor, Highly ...	OMIM:301044
Mandibuloacral Dysplasia	Lipoatrophy, Abnormal tongue morphology, Abnormally large globe, Dental crowding, Short clavicles...	ORPHA:2457
Nephrotic Syndrome, Type 11	High palate, Cleft lip, Arachnodactyly, Partial duplication of thumb phalanx, Cleft palate, Micro...	OMIM:616730
Frontonasal Dysplasia 3	Tessier cleft, Microphthalmia, Upper eyelid coloboma, Absent eyebrow, Sparse eyelashes, Cleft palate	OMIM:613456
Mucopolysaccharidosis Type 2, Severe Form	Temporomandibular joint ankylosis, Cardiomyopathy, Abnormal mitral valve morphology, Enlarged ton...	ORPHA:217085
Chops Syndrome	High, narrow palate, Cervical C2/C3 vertebral fusion, Gastroesophageal reflux, Tracheomalacia, Pa...	OMIM:616368
Faciocardiomelic Dysplasia, Lethal	Hypoplasia of the ulna, Hypoplasia of the radius, Fibular hypoplasia, Retrognathia, Talipes, Sing...	OMIM:227270
Pulmonary Arteriovenous Malformation	Ischemic stroke, Gastrointestinal infarctions, Liver abscess, Cyanosis, Iron deficiency anemia, B...	ORPHA:2038
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome	Narrow greater sciatic notch, Rhizomelia, Platyspondyly, Flared metaphysis, Scoliosis, Short long...	ORPHA:85167
Renpenning Syndrome 1	Narrow foot, Pectus excavatum, Short philtrum, Scoliosis, Camptodactyly, Sparse lateral eyebrow, ...	OMIM:309500
Mycophenolate Mofetil Embryopathy	Congenital diaphragmatic hernia, Orofacial cleft, Tessier cleft, Microphthalmia, Tracheomalacia, ...	ORPHA:268249
Wrinkly Skin Syndrome	Kyphoscoliosis, Deep plantar creases, Pectus excavatum, Slender long bones with narrow diaphyses,...	ORPHA:2834
Neurodevelopmental, Jaw, Eye, And Digital Syndrome	Microphthalmia, Sandal gap, Joint contracture of the 5th finger, Inguinal hernia, 2-3 toe syndact...	OMIM:618914
Cleft Palate-Stapes Fixation-Oligodontia Syndrome	Abnormality of the wrist, Tarsal synostosis, Telecanthus, Abnormality of the ankle, Cleft palate,...	ORPHA:2010
Orofaciodigital Syndrome Iii	Supernumerary tooth, Postaxial hand polydactyly, Pectus excavatum, Microdontia, Kyphosis, Short s...	OMIM:258850
Microcephalic Osteodysplastic Primordial Dwarfism, Type I	Enlarged metaphyses, Femoral bowing, Bifid first metacarpal, Short metacarpal, Death in infancy, ...	OMIM:210710
Alpha-1-Antitrypsin Deficiency	Gastric varix, Cirrhosis, Panacinar emphysema, Hepatocellular carcinoma, Splenomegaly, Bronchiect...	OMIM:613490
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 1	Microphthalmia, Macroglossia, Cardiomyopathy, Flexion contracture	OMIM:613155
Oculocerebrorenal Syndrome Of Lowe	Cheilitis, Dental crowding, Everted lower lip vermilion, Kyphosis, Death in infancy, Joint stiffn...	ORPHA:534
Joubert Syndrome 21	Bell-shaped thorax, Short ribs, Ptosis, Apnea, Pulmonary hypoplasia, Splenomegaly, Dysphagia, Chr...	OMIM:615636
Mend Syndrome	Microphthalmia, Sacral dimple, Telecanthus, Wide anterior fontanel, 2-3 toe syndactyly, High pala...	ORPHA:401973
Heterotaxy, Visceral, 12, Autosomal	Pulmonic stenosis, Discordant atrioventricular connection, Patent foramen ovale, Common atrium, P...	OMIM:619702
X Small Rings	Bicuspid aortic valve, Long philtrum, Reduced bone mineral density, Clinodactyly of the 5th finge...	ORPHA:96201
Coenzyme Q10 Deficiency, Primary, 7	Scoliosis, Hypertrophic cardiomyopathy, Dysphagia, Epicanthus, Patent ductus arteriosus, Ventricu...	OMIM:616276
Cayler Cardiofacial Syndrome	Ventricular septal defect, Tetralogy of Fallot, Patent ductus arteriosus	OMIM:125520
Naxos Disease	Cleft upper lip, Cardiomyopathy	ORPHA:34217
Cardiospondylocarpofacial Syndrome	Congenital diaphragmatic hernia, Wide mouth, Dysplastic tricuspid valve, Joint hypermobility, Lon...	OMIM:157800
Pseudoleprechaunism Syndrome, Patterson Type	Kyphoscoliosis, Abnormal ethmoid bone morphology, Long foot, Genu valgum, Delayed pubic bone ossi...	ORPHA:2976
Mucopolysaccharidosis Type 2, Attenuated Form	Temporomandibular joint ankylosis, Cardiomyopathy, Abnormal mitral valve morphology, Enlarged ton...	ORPHA:217093
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
Robin Sequence With Cleft Mandible And Limb Anomalies	Cleft lower alveolar ridge, Mesomelic arm shortening, Proximal placement of thumb, Short metacarp...	OMIM:268305
Cardiofaciocutaneous Syndrome 3	Reduced bone mineral density, Scoliosis, Pectus excavatum, Hypertrophic cardiomyopathy, Pulmonic ...	OMIM:615279
Alpha-Mannosidosis, Infantile Form	Highly arched eyebrow, Pectus carinatum, Pectus excavatum, Joint stiffness, Umbilical hernia, Joi...	ORPHA:309282
Thakker-Donnai Syndrome	Congenital diaphragmatic hernia, Transposition of the great arteries, Cervical C2/C3 vertebral fu...	ORPHA:1780
Schneckenbecken Dysplasia	Abnormal metaphysis morphology, Diaphyseal undertubulation, Fibular hypoplasia, Lateral clavicle ...	ORPHA:3144
Neutropenia, Severe Congenital, 4, Autosomal Recessive	Perianal abscess, Pectus carinatum, Pulmonic stenosis, Broad thumb, Leukopenia, Splenomegaly, Lym...	OMIM:612541
Corpus Callosum, Agenesis Of, With Impaired Intellectual Development, Ocular Coloboma, And Micrognathia	Retrognathia, High palate, Pectus excavatum, Bilateral cryptorchidism, Thoracolumbar scoliosis, D...	OMIM:300472
Systemic Sclerosis	Nail bed telangiectasia, Pericarditis, Dysphagia, Intestinal bleeding, Abnormal phalangeal joint ...	ORPHA:90291
Cranioacrofacial Syndrome	Pulmonic stenosis, Dupuytren contracture, Ventricular septal defect, Abnormal hand morphology	OMIM:122850
Dermatoosteolysis, Kirghizian Type	Abnormal metaphysis morphology, Abnormality of the hand, Tarsal synostosis, Abnormal diaphysis mo...	ORPHA:1657
Chondrodysplasia Punctata 2, X-Linked Dominant	Kyphoscoliosis, Microphthalmia, Epiphyseal stippling, Scoliosis, Hemivertebrae, Stippled calcific...	OMIM:302960
Spinal Muscular Atrophy, Type I	Recurrent respiratory infections, Atrial septal defect, Ventricular septal defect, Death in child...	OMIM:253300
Frontofacionasal Dysplasia	Orofacial cleft, S-shaped palpebral fissures, Microphthalmia, Telecanthus, Frontal cutaneous lipo...	OMIM:229400
Heterotaxy, Visceral, 4, Autosomal	Atrioventricular canal defect, Transposition of the great arteries, Dextrocardia, Right aortic ar...	OMIM:613751
Megalencephaly-Polymicrogyria-Postaxial Polydactyly-Hydrocephalus Syndrome	Telecanthus, Narrow mouth, Postaxial hand polydactyly, Ventricular septal defect, Abnormal cardia...	ORPHA:83473
Hyperinsulinemic Hypoglycemia, Familial, 2	Nesidioblastosis, Pancreatic islet-cell hyperplasia	OMIM:601820
Menkes Disease	Abnormal carotid artery morphology, Spontaneous hematomas, Gastrointestinal hemorrhage, Pectus ex...	ORPHA:565
Microphthalmia/Coloboma 6	Hypoplasia of the fovea, Bilateral microphthalmos, Optic disc hypoplasia	OMIM:613703
Fanconi Anemia, Complementation Group R	Microphthalmia, Radial dysplasia, Anemia, Scoliosis, Anal atresia, Bone marrow hypocellularity, A...	OMIM:617244
Hypoglossia-Hypodactyly Syndrome	Gastroschisis, Aplasia/Hypoplasia of fingers, Telecanthus, Finger syndactyly, Hypodontia, Adactyl...	ORPHA:989
Choanal Atresia	Polydactyly, Respiratory distress, Tracheomalacia, Craniosynostosis, Recurrent respiratory infect...	ORPHA:137914
Sclerosteosis 1	Sclerotic vertebral endplates, Tooth malposition, Broad clavicles, Mandibular prognathia, Abnorma...	OMIM:269500
Dietary Iron Overload Disease	Hepatomegaly, Abnormal pancreas morphology, Hepatocellular carcinoma, Hepatic periportal necrosis...	ORPHA:139507
Shwachman-Diamond Syndrome	Aplastic anemia, Steatorrhea, Macrocytic anemia, Abnormal finger morphology, Chronic neutropenia,...	ORPHA:811
Congenital Tracheal Stenosis	Abnormal lung lobation, Anomalous origin of left pulmonary artery from ascending aorta, Cyanosis,...	ORPHA:141127
Posterior Fusion Of Lumbosacral Vertebrae-Blepharoptosis Syndrome	Tarsal synostosis, Posterior fusion of lumbosacral vertebrae, Sacral dimple, Abnormal form of the...	ORPHA:2064
Coffin-Siris Syndrome 4	Everted upper lip vermilion, Pulmonic stenosis, Prominent interphalangeal joints, Wide mouth, Lon...	OMIM:614609
Autoimmune Polyendocrinopathy Type 4	Aplasia/Hypoplasia of the spleen, Osteopenia, Abnormal pulmonary interstitial morphology, Keratoc...	ORPHA:227990
Cutis Laxa, Autosomal Recessive, Type Iiia	Large fontanelles, Inguinal hernia, Joint hypermobility, Scoliosis, Narrow mouth, Congenital hip ...	OMIM:219150
Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts	Microphthalmia, Hepatomegaly, Death in infancy, Neonatal death, Ventricular septal defect	OMIM:613730
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 8	Premature graying of hair, Gastric varix, Increased mean corpuscular volume, Esophageal varix, Cl...	OMIM:620367
Rothmund-Thomson Syndrome Type 2	Aplastic anemia, Aplasia/hypoplasia involving bones of the upper limbs, Sparse or absent eyelashe...	ORPHA:221016
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome	Flexion contracture of toe, Wide mouth, Recurrent aspiration pneumonia, Dysphagia, Rectovestibula...	ORPHA:280633
Neurodevelopmental Disorder With Dysmorphic Facies, Sleep Disturbance, And Brain Abnormalities	Thick lower lip vermilion, Dysplastic pulmonary valve, Mandibular prognathia, Unilateral cleft pa...	OMIM:619103
Ivic Syndrome	Limited elbow movement, Intestinal malrotation, Absent thumb, Hypoplasia of the ulna, Hypoplasia ...	OMIM:147750
Ehlers-Danlos Syndrome, Musculocontractural Type, 1	Pectus excavatum, Intestinal malrotation, Arachnodactyly, Abnormal duodenum morphology, Mitral va...	OMIM:601776
Neurodegeneration And Seizures Due To Copper Transport Defect	Pneumothorax, Respiratory distress, Pulmonary hypoplasia, Cardiomegaly, Short femur, Short tibia,...	OMIM:620306
Congenital Toxoplasmosis	Microphthalmia, Jaundice, Anemia, Lymphadenopathy, Hepatomegaly, Thrombocytopenia, Cardiomegaly	ORPHA:858
Wiedemann-Rautenstrauch Syndrome	Lipoatrophy, Ectropion, Short humerus, Hypoplastic facial bones, Dysphagia, Long philtrum, Long t...	OMIM:264090
Pallister-Hall Syndrome	Mesoaxial polydactyly, Oligodactyly, Thyroid hypoplasia, Broad thumb, Bifid uvula, Umbilical hern...	ORPHA:672
Fanconi Anemia, Complementation Group I	Hypoplasia of the radius, Microphthalmia, Fused cervical vertebrae, Optic nerve hypoplasia, Paten...	OMIM:609053
Dysplasia Epiphysealis Hemimelica	Tarsal synostosis, Abnormal femur morphology, Genu valgum, Irregular epiphyses, Joint stiffness, ...	ORPHA:1822
Corpus Callosum Agenesis-Intellectual Disability-Coloboma-Micrognathia Syndrome	Retrognathia, Scoliosis, High palate, Pectus excavatum, Downslanted palpebral fissures, Cleft pal...	ORPHA:52055
Tetraamelia Syndrome 2	Bilateral lung agenesis, Hypoplastic pulmonary veins, Glossoptosis, Absent nipple, Ankyloglossia,...	OMIM:618021
Pulmonary Alveolar Microlithiasis	Calcification of the aorta, Pneumothorax, Hepatomegaly, Pleural thickening, Clubbing of fingers, ...	ORPHA:60025
Unilateral Ocular Duplication	Abnormality of the fontanelles or cranial sutures, Midline facial cleft, Abnormal eyebrow morphol...	ORPHA:3374
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis	Osteopetrosis, Sclerotic vertebral body, Bell-shaped thorax, Diaphyseal sclerosis, Pectus carinat...	OMIM:618476
Ctcf-Related Neurodevelopmental Disorder	Sandal gap, Joint contracture of the 5th finger, Highly arched eyebrow, Prominent fingertip pads,...	ORPHA:363611
Craniolenticulosutural Dysplasia	High iliac wing, Bifid uvula, Wide mouth, Long philtrum, Joint hypermobility, Delayed closure of ...	OMIM:607812
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease	Hematemesis, Hepatomegaly, Periportal fibrosis, Esophageal varix, Portal hypertension, Neonatal d...	OMIM:263200
Heterotaxy, Visceral, 8, Autosomal	Congenitally corrected transposition of the great arteries with ventricular septal defect, Dextro...	OMIM:617205
Au-Kline Syndrome	Retrognathia, Deep plantar creases, Pectus excavatum, Shallow orbits, Bifid uvula, Craniosynostos...	OMIM:616580
Distal Deletion 3P	Thin vermilion border, Atrioventricular canal defect, Clinodactyly of the 5th finger, Sacral dimp...	ORPHA:1620
Craniosynostosis 2	Supernumerary tooth, Triphalangeal thumb, Cleft soft palate, Unicoronal synostosis, Bicoronal syn...	OMIM:604757
19Q13.11 Microdeletion Syndrome	Retrognathia, Thin vermilion border, Clinodactyly of the 5th finger, Sparse or absent eyelashes, ...	ORPHA:217346
Van Der Woude Syndrome 2	Cleft upper lip, Cleft palate, Anodontia, Hypodontia, Dental malocclusion, Lip pit	OMIM:606713
Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability	Bilateral cleft palate, Microphthalmia, Ptosis	ORPHA:1473
Jackson-Weiss Syndrome	Short first metatarsal, 2-3 toe syndactyly, Calcaneonavicular fusion, Broad proximal phalanx of t...	OMIM:123150
Curry-Jones Syndrome	Microphthalmia, Anal stenosis, Intestinal pseudo-obstruction, Unicoronal synostosis, Blepharophim...	OMIM:601707
Toriello-Carey Syndrome	Cardiomyopathy, Pulmonic stenosis, Clinodactyly, Abnormal cardiac septum morphology, Aganglionic ...	ORPHA:3338
Shprintzen Omphalocele Syndrome	Thin vermilion border, Narrow chest, Scoliosis, Kyphosis, Anal atresia, Omphalocele, Epicanthus, ...	OMIM:182210
Schinzel-Giedion Midface Retraction Syndrome	Tibial bowing, Shallow orbits, Short distal phalanx of finger, Increased density of long bones, B...	OMIM:269150
Immunodeficiency, Common Variable, 10	Decreased response to growth hormone stimulation test, Recurrent viral upper respiratory tract in...	OMIM:615577
Cerebrooculofacioskeletal Syndrome 2	Rocker bottom foot, Kyphoscoliosis, Microphthalmia, Death in childhood, Camptodactyly of finger	OMIM:610756
Hypophosphatemic Rickets, X-Linked Recessive	Rickets, Hypophosphatemic rickets, Fibular bowing, Delayed epiphyseal ossification, Enlargement o...	OMIM:300554
Mesomelia-Synostoses Syndrome	Narrow foot, Partial fusion of proximal row of carpal bones, Tibial bowing, Mesomelia, Ulnar devi...	OMIM:600383
Mowat-Wilson Syndrome	Pectus carinatum, Pectus excavatum, Pulmonic stenosis, Abnormal heart morphology, Abnormal enteri...	OMIM:235730
Mental Retardation, Skeletal Dysplasia, And Abducens Palsy	Fused cervical vertebrae, Scoliosis, Anal atresia, Prominent metopic ridge, Short middle phalanx ...	OMIM:309620
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1	Kyphosis, Postaxial polydactyly, Ptosis, Long palpebral fissure, Vascular ring, Knee flexion cont...	OMIM:603387
Loeys-Dietz Syndrome 3	Retrognathia, Arterial tortuosity, Spondylolisthesis, Abnormal sternum morphology, Pectus carinat...	OMIM:613795
Adams-Oliver Syndrome 1	Pulmonic stenosis, Aortic valve stenosis, Pulmonary artery stenosis, Cleft palate, Tetralogy of F...	OMIM:100300
Van Der Woude Syndrome	Abnormal salivary gland morphology, Cleft upper lip, Cleft palate, Hypodontia, Lower lip pit, Lip...	ORPHA:888
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation	Intestinal pseudo-obstruction, Abnormality of primary teeth, Shallow orbits, Tooth agenesis, Abno...	ORPHA:453504
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion	Intestinal pseudo-obstruction, Abnormality of primary teeth, Shallow orbits, Tooth agenesis, Abno...	ORPHA:352665
Filippi Syndrome	Bilateral single transverse palmar creases, Clinodactyly of the 5th toe, Thin vermilion border, C...	ORPHA:3255
Hyperimmunoglobulinemia D With Periodic Fever	Intestinal obstruction, Gastrointestinal hemorrhage, Hepatomegaly, Purpura, Lymphadenopathy, Recu...	ORPHA:343
Acromesomelic Dysplasia, Grebe Type	Fibular hypoplasia, Tarsal synostosis, Aplasia/Hypoplasia of the thumb, Postaxial hand polydactyl...	ORPHA:2098
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome	Pectus excavatum, Abnormal heart morphology, Long philtrum, Joint hypermobility, Craniosynostosis...	ORPHA:369837
Hypogonadism, Male, With Mental Retardation And Skeletal Anomalies	Abnormality of the cervical spine, Superior rib anomalies	OMIM:307500
Skeletal Defects, Genital Hypoplasia, And Impaired Intellectual Development	Hypoplasia of the ulna, Thin vermilion border, Fibular hypoplasia, Narrow mouth, Cryptorchidism, ...	OMIM:612447
Giant Cell Arteritis	Mediastinal lymphadenopathy, Glossitis, Vasculitis, Arthritis, Double outlet right ventricle with...	ORPHA:397
Intellectual Developmental Disorder, Autosomal Recessive 65	Thin vermilion border, Contracture of the proximal interphalangeal joint of the 4th finger, Ingui...	OMIM:618109
Diamond-Blackfan Anemia 10	Congenital diaphragmatic hernia, Anemia, Macrocytic anemia, Respiratory distress, Morgagni diaphr...	OMIM:613309
Cerebrocostomandibular Syndrome	Clinodactyly of the 5th finger, Bell-shaped thorax, Tracheomalacia, Short hard palate, Glossoptos...	ORPHA:1393
Rajab Interstitial Lung Disease With Brain Calcifications 1	Reduced bone mineral density, Cholestasis, Pectus excavatum, Intestinal malrotation, Joint hyperm...	OMIM:613658
Cyanosis, Transient Neonatal	Jaundice, Anemia, Hepatomegaly, Reticulocytosis, Cyanosis, Methemoglobinemia	OMIM:613977
Brachydactyly, Coloboma, And Anterior Segment Dysgenesis	Clinodactyly, Microphthalmia, Syndactyly, Brachydactyly	OMIM:610023
Autoimmune Polyendocrinopathy Type 3	Aplasia/Hypoplasia of the spleen, Osteopenia, Abnormal pulmonary interstitial morphology, Keratoc...	ORPHA:227982
Macrocephaly, Neurodevelopmental Delay, Lymphoid Hyperplasia, And Persistent Fetal Hemoglobin	Gastroesophageal reflux, Dental crowding, Ventricular septal defect, Persistence of hemoglobin F,...	OMIM:619769
White-Sutton Syndrome	Congenital diaphragmatic hernia, Thin vermilion border, Short philtrum, Joint hypermobility, Opti...	OMIM:616364
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome	Rocker bottom foot, Bilateral ptosis, Short 5th finger, Long toe, Short philtrum, Cryptorchidism,...	ORPHA:163979
Den Hoed-De Boer-Voisin Syndrome	Sandal gap, Yellow-brown discoloration of the teeth, Death in adolescence, Dysphagia, Joint hyper...	OMIM:619229
Immunodeficiency 49	Short palpebral fissure, Impaired lymphocyte transformation with phytohemagglutinin, Short philtr...	OMIM:617237
Osteogenesis Imperfecta, Type Xx	Narrow palate, Retrognathia, Kyphoscoliosis, Asymmetry of the thorax, Narrow chest, Highly arched...	OMIM:618644
Impaired Intellectual Development, Anterior Maxillary Protrusion, And Strabismus	Joint hypermobility, Dental crowding, Open bite, Hyperplasia of the maxilla	OMIM:613671
Microcephalic Osteodysplastic Primordial Dwarfism Types I And Iii	Aplasia/hypoplasia of the femur, Broad distal phalanx of finger, Abnormal form of the vertebral b...	ORPHA:2636
Osteogenesis Imperfecta, Type Iv	Reduced bone mineral density, Femoral bowing present at birth, straightening with time, Scoliosis...	OMIM:166220
Campomelic Dysplasia	Fibular hypoplasia, Poorly ossified cervical vertebrae, 11 pairs of ribs, Tracheomalacia, Narrow ...	ORPHA:140
Trichothiodystrophy	Ectropion, Retrognathia, Clubbing, Cardiomyopathy, Recurrent bronchopulmonary infections, Umbilic...	ORPHA:33364
Spondylocostal Dysostosis 5	Butterfly vertebrae, Pectus carinatum, Scoliosis, Hemivertebrae, Missing ribs, Supernumerary ribs...	OMIM:122600
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 1	Rocker bottom foot, Retrognathia, Hepatomegaly, Death in childhood, Camptodactyly, Anisocytosis, ...	OMIM:604273
Mandibuloacral Dysplasia With Type A Lipodystrophy	Dental crowding, Joint stiffness, Short distal phalanx of finger, Coxa valga, Loss of subcutaneou...	OMIM:248370
Distal 22Q11.2 Microduplication Syndrome	Palpebral edema, Long philtrum, Sacral dimple, Short philtrum, Scoliosis, Cryptorchidism, Downsla...	ORPHA:261337
Kapur-Toriello Syndrome	Orofacial cleft, Microphthalmia, Intestinal malrotation, Tetralogy of Fallot, Patent ductus arter...	ORPHA:2328
Phelan-Mcdermid Syndrome	Long philtrum, Palpebral edema, Widely spaced teeth, Clinodactyly of the 5th finger, Sacral dimpl...	OMIM:606232
Solitary Median Maxillary Central Incisor	Microphthalmia, Solitary median maxillary central incisor, Anophthalmia, Prominent median palatal...	OMIM:147250
Meckel Syndrome, Type 10	Sacral dimple, Postaxial hand polydactyly, Camptodactyly, Postaxial polydactyly, Ptosis, Bifid uv...	OMIM:614175
Mckusick-Kaufman Syndrome	Tarsal synostosis, Aganglionic megacolon, Abnormal metacarpal morphology, Finger syndactyly, Ecto...	ORPHA:2473
Intellectual Developmental Disorder, Autosomal Recessive 69	Hyperplasia of the maxilla	OMIM:618383
Craniosynostosis 6	Spina bifida occulta, Bicoronal synostosis, Scoliosis, Right unilambdoid synostosis, Delayed cran...	OMIM:616602
Brachydactyly, Type B2	Aplasia/Hypoplasia of the distal phalanges of the hand, Tarsal synostosis, Distal symphalangism o...	OMIM:611377
Mucolipidosis Type Ii	Cardiomyopathy, Kyphosis, Shallow orbits, Abnormal mitral valve morphology, Splenomegaly, Left ve...	ORPHA:576
Epiphyseal Dysplasia, Multiple, With Myopia And Conductive Deafness	Genu valgum, Narrow mouth, Epiphyseal dysplasia, Short phalanx of finger, Brachydactyly, Coxa valga	OMIM:132450
Acrodysostosis 2 With Or Without Hormone Resistance	Short metatarsal, Mandibular prognathia, Short metacarpal, Short phalanx of finger, Spinal canal ...	OMIM:614613
Congenital Heart Block	Patent foramen ovale, Pleural effusion, Pericardial effusion, Patent ductus arteriosus, Cyanosis,...	ORPHA:60041
Moebius Syndrome	Aplasia of the pectoralis major muscle, Everted lower lip vermilion, Microdontia, Death in infanc...	ORPHA:570
Hypertension And Brachydactyly Syndrome	Short phalanx of finger, Cone-shaped epiphysis, Type E brachydactyly, Short metacarpal	OMIM:112410
Fibular Aplasia-Complex Brachydactyly Syndrome	Bilateral single transverse palmar creases, Abnormal thumb morphology, Tarsal synostosis, Abnorma...	ORPHA:2639
Hydrolethalus	Retrognathia, Gingival cleft, Postaxial hand polydactyly, Micromelia, Micrognathia, Bifid uvula, ...	ORPHA:2189
Beckwith-Wiedemann Syndrome	Congenital diaphragmatic hernia, Large intestinal polyposis, Wide mouth, Splenomegaly, Umbilical ...	ORPHA:116
Hereditary Bullous Dystrophy, Macular Type	Short finger, Decreased testicular size, Abnormal heart morphology, Acrocyanosis, Pneumonia, Cryp...	ORPHA:1867
Beck-Fahrner Syndrome	Long philtrum, Cardiomegaly, High palate, Ptosis, Open mouth, Hip dysplasia, Joint hypermobility,...	OMIM:618798
Craniotubular Dysplasia, Ikegawa Type	Long philtrum, Diaphyseal dysplasia, Thick lower lip vermilion, Platyspondyly, Increased interver...	OMIM:619727
Vacterl Association With Hydrocephalus	Stillbirth, Abnormal vertebral morphology, Radial club hand, Abnormality of the vertebral column,...	OMIM:276950
Foxg1 Syndrome Due To 14Q12 Microdeletion	Palpebral edema, Scoliosis, Everted lower lip vermilion, Kyphosis, Prominent metopic ridge, Downs...	ORPHA:261144
Developmental Delay With Short Stature, Dysmorphic Facial Features, And Sparse Hair 1	Death in childhood, Death in infancy, Sparse eyelashes, Downslanted palpebral fissures, Natal too...	OMIM:616901
Tibial Hemimelia	Aplasia of the 4th metacarpal, Proximal tibial and fibular fusion, Oligodactyly, Increased laxity...	ORPHA:93322
Frontonasal Dysplasia-Alopecia-Genital Anomalies Syndrome	Microphthalmia, Telecanthus, Conical tooth, Abnormality of the dentition, Coronal craniosynostosi...	ORPHA:228390
Isolated Right Ventricular Hypoplasia	Muscular ventricular septal defect, Patent foramen ovale, Clubbing, Right atrial enlargement, Hyp...	ORPHA:439
Microcephalic Osteodysplastic Primordial Dwarfism, Type Iii	Kyphoscoliosis, Clinodactyly of the 5th finger, Knee flexion contracture, Cone-shaped epiphyses o...	OMIM:210730
Muenke Syndrome	High, narrow palate, Tarsal synostosis, Short foot, Coronal craniosynostosis, Short palm, Ptosis,...	ORPHA:53271
Spondylometaphyseal Dysplasia, Algerian Type	Short tubular bones of the hand, Kyphoscoliosis, Carpal bone hypoplasia, Flared femoral metaphysi...	OMIM:184253
Flat Face-Microstomia-Ear Anomaly Syndrome	High, narrow palate, Telecanthus, Inguinal hernia, Highly arched eyebrow, Scoliosis, Narrow mouth...	ORPHA:1968
Pyloric Stenosis, Infantile Hypertrophic, 1	Pyloric stenosis	OMIM:179010
Ectodermal Dysplasia-Intellectual Disability-Central Nervous System Malformation Syndrome	Abnormal fibula morphology, Retrognathia, Sandal gap, Inguinal hernia, Abnormal dental enamel mor...	ORPHA:1812
Microphthalmia, Syndromic 3	Butterfly vertebrae, Microphthalmia, Patent ductus arteriosus, Esophageal atresia, Anophthalmia, ...	OMIM:206900
Nanophthalmos	Microphthalmia	ORPHA:35612
Hartsfield Syndrome	Hypoplasia of the frontal bone, Ectrodactyly, Gonadotropin deficiency, Cleft upper lip, Cleft pal...	OMIM:615465
Wolcott-Rallison Syndrome	Jaundice, Hepatomegaly, Iron deficiency anemia, Lymphocytosis, Metaphyseal dysplasia, Exocrine pa...	ORPHA:1667
X-Linked Intellectual Disability-Cerebellar Hypoplasia-Spondylo-Epiphyseal Dysplasia Syndrome	Lipoma, Lower-limb joint contracture, Everted lower lip vermilion, Long philtrum, Short finger, S...	ORPHA:459070
Chromosome 2Q37 Deletion Syndrome	Type E brachydactyly, Highly arched eyebrow, Blepharophimosis, Short metacarpal, Short fourth met...	OMIM:600430
Hallermann-Streiff Syndrome	Supernumerary tooth, High, narrow palate, Microphthalmia, Clinodactyly of the 5th finger, Abnorma...	ORPHA:2108
Warsaw Breakage Syndrome	Clinodactyly of the 5th finger, Single transverse palmar crease, 2-3 toe syndactyly, High palate,...	OMIM:613398
Camptodactyly Syndrome, Guadalajara Type 3	Osteopenia, Retrognathia, Distal shortening of limbs, Telecanthus, Spina bifida occulta, Abnormal...	ORPHA:488434
Otodental Syndrome	Agenesis of premolar, Abnormality of canine, Microphthalmia, Delayed eruption of teeth, Periodont...	ORPHA:2791
Larsen Syndrome	Broad distal phalanx of finger, Large joint dislocations, Finger syndactyly, Scoliosis, Laryngotr...	ORPHA:503
Retinal Degeneration-Nanophthalmos-Glaucoma Syndrome	Microphthalmia	ORPHA:1574
Benign Familial Infantile Epilepsy	Apnea, Cyanosis	ORPHA:306
Cutis Laxa, Autosomal Dominant 3	Osteopenia, Joint hypermobility, Delayed cranial suture closure, Tortuous cerebral arteries, Worm...	OMIM:616603
Pancreatic Hypoplasia-Diabetes-Congenital Heart Disease Syndrome	Congenital diaphragmatic hernia, Biliary atresia, Pancreatic aplasia, Pulmonic stenosis, Intestin...	ORPHA:2255
Coffin-Siris Syndrome	Abnormal heart morphology, Wide mouth, Broad philtrum, Joint hypermobility, Short 5th finger, Her...	ORPHA:1465
Warburg Micro Syndrome 3	Narrow palate, Kyphoscoliosis, Microphthalmia, Clinodactyly of the 5th finger, Downturned corners...	OMIM:614222
Cerebellofaciodental Syndrome	Genu valgum, Clinodactyly of the 5th finger, Slender long bone, Single transverse palmar crease, ...	OMIM:616202
Congenital Total Pulmonary Venous Return Anomaly	Cardiomegaly, Apneic episodes in infancy, Mixed total anomalous pulmonary venous connection, Tran...	ORPHA:99125
Woods Syndrome	Limited elbow extension, Thin vermilion border, Single transverse palmar crease, 3-4 finger cutan...	OMIM:615236
Limb-Mammary Syndrome	Lacrimal duct atresia, Split hand, Camptodactyly, Split foot, Bifid uvula, Cleft palate, Syndacty...	OMIM:603543
Meckel Syndrome, Type 4	Microphthalmia, Postaxial hand polydactyly, Bowing of the long bones, Bile duct proliferation, Cl...	OMIM:611134
Atypical Werner Syndrome	Rocker bottom foot, Premature graying of hair, Lipoatrophy, Reduced bone mineral density, Calf mu...	ORPHA:79474
Timothy Syndrome	Pneumonia, Bronchitis, Patent foramen ovale, Cutaneous syndactyly, Microdontia, Tetralogy of Fall...	OMIM:601005
Tarsal-Carpal Coalition Syndrome	Short finger, Tarsal synostosis, Radial deviation of finger, Distal symphalangism of hands, Cubit...	OMIM:186570
Microcephaly With Or Without Chorioretinopathy, Lymphedema, Or Impaired Intellectual Development	Microphthalmia, Thick lower lip vermilion, Downslanted palpebral fissures, Epicanthus, Long philt...	OMIM:152950
Kawasaki Disease	Myocarditis, Cheilitis, Jaundice, Cervical lymphadenopathy, Glossitis, Vasculitis, Ascending tubu...	ORPHA:2331
Dubowitz Syndrome	Aplastic anemia, Microphthalmia, Syndactyly, Sacral dimple, Inguinal hernia, Hypoplasia of the ir...	OMIM:223370
Aspartylglucosaminuria	Pectus carinatum, Joint stiffness, Splenomegaly, Umbilical hernia, Vascular skin abnormality, Ing...	ORPHA:93
Adams-Oliver Syndrome	Cirrhosis, Microphthalmia, Arteriovenous malformation, Abnormal metacarpal morphology, Finger syn...	ORPHA:974
Autosomal Recessive Cutis Laxa Type 2A	Inguinal hernia, Wide anterior fontanel, Delayed cranial suture closure, Congenital hip dislocati...	ORPHA:357058
Ulna Hypoplasia-Intellectual Disability Syndrome	Hypoplasia of the ulna, Hypoplasia of the radius, Large fontanelles, Delayed cranial suture closu...	ORPHA:2249
Culler-Jones Syndrome	Anterior pituitary hypoplasia, Postaxial polydactyly, Cleft upper lip, Cleft palate, Hypopituitar...	OMIM:615849
Neurofaciodigitorenal Syndrome	Triphalangeal thumb, Abnormal metacarpal morphology, Mandibular prognathia, Abnormality of the ph...	ORPHA:2673
Proximal Symphalangism	Tarsal synostosis, Clinodactyly of the 5th finger, Abnormal metacarpal morphology, Abnormality of...	ORPHA:3250
Autosomal Recessive Polycystic Kidney Disease	Gastrointestinal hemorrhage, Cholestasis, Biliary hyperplasia, Splenomegaly, Abnormal intrahepati...	ORPHA:731
Atypical Rett Syndrome	Sudden episodic apnea, Functional abnormality of the gastrointestinal tract, Scoliosis, Kyphosis,...	ORPHA:3095
Orofaciodigital Syndrome X	Fibular aplasia, Retrognathia, Telecanthus, Finger aplasia, Cleft palate, Preaxial hand polydacty...	OMIM:165590
Neurodevelopmental Disorder With Intention Tremor, Pyramidal Signs, Dyspraxia, And Ocular Anomalies	Sacral dimple, Scoliosis, High palate, Dextrotransposition of the great arteries, Brachydactyly, ...	OMIM:619995
Deafness-Epiphyseal Dysplasia-Short Stature Syndrome	Abnormal femoral epiphysis morphology, Inguinal hernia, Abnormal form of the vertebral bodies, Sh...	ORPHA:3218
Orofaciodigital Syndrome Type 3	Thoracic kyphosis, Postaxial hand polydactyly, Abnormality of the dentition, Pectus excavatum, Ir...	ORPHA:2752
Hyperphosphatasia With Impaired Intellectual Development Syndrome 2	Aganglionic megacolon, Anal stenosis, Anal atresia, Long palpebral fissure, Shortening of all dis...	OMIM:614749
Brachydactyly-Short Stature-Retinitis Pigmentosa Syndrome	Pes planus, Inguinal hernia, Absent eyelashes, Abnormal vena cava morphology, Short metacarpal, A...	ORPHA:166035
Aortic Valve Disease 1	Ventricular septal defect, Aortic valve stenosis, Mitral stenosis, Tetralogy of Fallot, Aortic va...	OMIM:109730
Marfan Syndrome	Limited elbow movement, Retrognathia, Reduced bone mineral density, Spondylolisthesis, Dental cro...	ORPHA:558
Kabuki Syndrome	Congenital diaphragmatic hernia, Abnormal form of the vertebral bodies, Highly arched eyebrow, Mi...	ORPHA:2322
Floating-Harbor Syndrome	Kyphoscoliosis, Mesocardia, Cone-shaped epiphyses of the phalanges of the hand, Dislocated radial...	OMIM:136140
Fetal Akinesia Deformation Sequence 3	Rocker bottom foot, Talipes, Downslanted palpebral fissures, Micrognathia, Short neck, Overlappin...	OMIM:618389
Alveolar Echinococcosis	Jaundice, Anemia, Cholangitis, Liver abscess, Abnormal vertebral morphology, Bone cyst, Abnormal ...	ORPHA:284
Diamond-Blackfan Anemia	Abnormality of the thenar eminence, Normochromic anemia, Abnormality of the upper limb, Macrocyti...	ORPHA:124
Intellectual Developmental Disorder, Autosomal Dominant 60, With Seizures	Thin upper lip vermilion, Hyperplasia of the maxilla	OMIM:618587
Mayer-Rokitansky-Küster-Hauser Syndrome Type 2	Short neck, Vertebral segmentation defect, Abnormal rib morphology	ORPHA:2578
Choreoathetosis And Congenital Hypothyroidism With Or Without Pulmonary Dysfunction	Atrial septal defect, Decreased response to growth hormone stimulation test, Atelectasis, Recurre...	OMIM:610978
Osteogenesis Imperfecta Congenita, Microcephaly, And Cataracts	Stillbirth, Multiple prenatal fractures, Decreased calvarial ossification, Wormian bones, Bowing ...	OMIM:259410
Ankyloblepharon Filiforme Adnatum-Cleft Palate Syndrome	Non-midline cleft of the upper lip, Cleft palate, Lip pit, Ankyloblepharon	ORPHA:1072
Kabuki Syndrome 1	Bilateral ptosis, Highly arched eyebrow, Prominent fingertip pads, Intestinal malrotation, Recurr...	OMIM:147920
Neuroocular Syndrome	Microphthalmia, Highly arched eyebrow, Prominent fingertip pads, Umbilical hernia, Nasolacrimal d...	OMIM:619539
Ciliary Dyskinesia, Primary, 52	Situs inversus totalis, Transposition of the great arteries, Patent ductus arteriosus, Patent for...	OMIM:620570
Intellectual Developmental Disorder, X-Linked, Syndromic 34	Kyphoscoliosis, Dental crowding, Kyphosis, Wide mouth, Cardiomegaly, Joint hypermobility, Short p...	OMIM:300967
X-Linked Myotubular Myopathy-Abnormal Genitalia Syndrome	Retrognathia, Thin ribs, High palate, Joint hypermobility, Cryptorchidism	ORPHA:456328
Joubert Syndrome With Oculorenal Defect	Aganglionic megacolon, Highly arched eyebrow, Scoliosis, Foot polydactyly, Ptosis, Hand polydacty...	ORPHA:2318
Hirschsprung Disease With Ulnar Polydactyly, Polysyndactyly Of Big Toes, And Ventricular Septal Defect	Polysyndactyly of hallux, Ventricular septal defect, Aganglionic megacolon, Preaxial foot polydac...	OMIM:235750
Dubowitz Syndrome	Sandal gap, Broad thumb, Wide mouth, Abnormality of thumb phalanx, Joint hypermobility, Craniosyn...	ORPHA:235
Atrioventricular Defect-Blepharophimosis-Radial And Anal Defect Syndrome	Hypoplasia of the ulna, Microphthalmia, Clinodactyly of the 5th finger, Aplasia/Hypoplasia of the...	ORPHA:1352
Nivelon-Nivelon-Mabille Syndrome	Bell-shaped thorax, Distal clavicular thinning, Narrow chest, Short metacarpal, Micromelia, Short...	OMIM:600092
Pulmonary Alveolar Proteinosis, Acquired	Lung abscess, Intraalveolar phospholipid accumulation, Clubbing, Hypoxemia, Pneumonia, Recurrent ...	OMIM:610910
Hereditary Methemoglobinemia	Lip discoloration, Cyanosis, Methemoglobinemia	ORPHA:621
Kabuki Syndrome 2	Highly arched eyebrow, Prominent fingertip pads, Pulmonic stenosis, Joint hypermobility, Short 5t...	OMIM:300867
Severe Microbrachycephaly-Intellectual Disability-Athetoid Cerebral Palsy Syndrome	Tessier cleft, Abnormal palate morphology, Microphthalmia, Telecanthus, Scoliosis, Broad thumb, C...	ORPHA:1236
Hirschsprung Disease, Cardiac Defects, And Autonomic Dysfunction	Aganglionic megacolon, Tapered finger, Flexion contracture, Patent ductus arteriosus, Atrial sept...	OMIM:613870
Eosinophilic Granulomatosis With Polyangiitis	Myocarditis, Intestinal obstruction, Purpura, Gastroesophageal reflux, Arthritis, Vasculitis, Tra...	ORPHA:183
Pili Torti-Onychodysplasia Syndrome	Absent eyelashes, Ectodermal dysplasia, Absent eyebrow, Conjunctival hyperemia, Cleft palate, Pal...	ORPHA:2890
Autoimmune Interstitial Lung, Joint, And Kidney Disease	Abnormal pulmonary interstitial morphology, Arthritis, Hemosiderin-laden macrophages in bronchoal...	OMIM:616414
Curry-Jones Syndrome	Microphthalmia, Craniosynostosis, Finger syndactyly, Broad thumb, Foot polydactyly, Intestinal ma...	ORPHA:1553
Blepharophimosis-Intellectual Disability Syndrome, Ohdo Type	Microphthalmia, Widely spaced teeth, Microdontia, Hypoplasia of teeth, Ptosis, Cleft palate, Atri...	ORPHA:2728
8P Inverted Duplication/Deletion Syndrome	High, narrow palate, Clinodactyly of the 5th finger, Dextrocardia, Scoliosis, Everted lower lip v...	ORPHA:96092
Craniotelencephalic Dysplasia	Craniosynostosis, Microphthalmia, Septo-optic dysplasia	ORPHA:1528
Telangiectasia, Hereditary Hemorrhagic, Type 1	Tongue telangiectasia, Hematemesis, Gastrointestinal hemorrhage, Nail bed telangiectasia, Dilatat...	OMIM:187300
1p36 microdeletion syndrome	Delayed cranial suture closure	DECIPHER:18
Osteogenesis Imperfecta, Type Xv	Platyspondyly, Scoliosis, Thin ribs, Joint hypermobility, Bowing of limbs due to multiple fractur...	OMIM:615220
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome	Abnormality of the gastrointestinal tract, Death in infancy, Neoplasm of the heart, Intestinal ma...	ORPHA:2241
Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome Due To 10P11.21P12.31 Microdeletion	Short palpebral fissure, Absent cupid's bow, Ventricular hypertrophy, Celiac disease, Synophrys, ...	ORPHA:284169
Hypophosphatemic Rickets, Autosomal Recessive, 1	Rickets, Craniosynostosis, Hypophosphatemic rickets, Increased bone mineral density	OMIM:241520
Menke-Hennekam Syndrome 1	Everted upper lip vermilion, Sandal gap, Umbilical hernia, Joint hypermobility, Overlapping toe, ...	OMIM:618332
Fgfr2-Related Bent Bone Dysplasia	Osteopenia, Metopic depression, Short clavicles, Gingival overgrowth, Steep acetabular roof, Hypo...	ORPHA:313855
Grange Syndrome	Short palm, Syndactyly, Arterial stenosis, Patent ductus arteriosus, Ventricular septal defect, I...	ORPHA:79094
Intellectual Developmental Disorder, Autosomal Dominant 66	Transposition of the great arteries, Clinodactyly of the 5th finger, Aortic root aneurysm, Scolio...	OMIM:619910
Cerebellar-Facial-Dental Syndrome	S-shaped palpebral fissures, Foot joint contracture, Slender long bone, Inguinal hernia, Single t...	ORPHA:444072
Williams Syndrome	Abnormal carotid artery morphology, Abnormal form of the vertebral bodies, Hyperlordosis, Everted...	ORPHA:904
Ectodermal Dysplasia With Facial Dysmorphism And Acral, Ocular, And Brain Anomalies	Microphthalmia, Sandal gap, Conical tooth, Scarring alopecia of scalp, Oligodontia, Microdontia, ...	OMIM:618727
Van Esch-O'Driscoll Syndrome	Pulmonary valve atresia, Short palpebral fissure, Retrognathia, Clinodactyly of the 5th finger, E...	OMIM:301030
Dravet Syndrome	Cyanotic episode, Limited knee extension, Tibial torsion, Pes planus, Pes valgus	ORPHA:33069
Intellectual Developmental Disorder, Autosomal Dominant 47	Gastroesophageal reflux, Scoliosis, Cryptorchidism, Widely-spaced incisors, Wide mouth, Thin eyeb...	OMIM:617635
Premature Ovarian Failure 12	Microphthalmia	OMIM:616947
Vater/Vacterl Association	Hypoplasia of the radius, Preaxial polydactyly, Transposition of the great arteries, Triphalangea...	OMIM:192350
Ehlers-Danlos Syndrome, Arthrochalasia Type, 2	Joint subluxation, Hyperextensibility of the finger joints, Atrophic scars, Hyperlordosis, Scolio...	OMIM:617821
Diabetes Mellitus, Neonatal, With Congenital Hypothyroidism	Osteopenia, Hepatomegaly, Splenic cyst, Wide anterior fontanel, Pancreatic hypoplasia, Cholestasi...	OMIM:610199
Intellectual Developmental Disorder With Impaired Language And Dysmorphic Facies	Arteria lusoria, Inguinal hernia, Highly arched eyebrow, 2-3 toe syndactyly, Scoliosis, High pala...	OMIM:618653
High Altitude Pulmonary Edema	Pulmonary edema, Leukocytosis, Hypoxemia, Tachypnea, Cyanosis	ORPHA:330012
Trisomy 10P	Thin vermilion border, Orofacial cleft, Short palpebral fissure, Rectovaginal fistula, Thumb cont...	ORPHA:171929
Refsum Disease	Microphthalmia, Hammertoe, Cardiomyopathy, Short metacarpal, Ptosis, Splenomegaly, Abnormal epiph...	ORPHA:773
Chromosome 14Q11-Q22 Deletion Syndrome	Short palpebral fissure, Hip subluxation, Gastroesophageal reflux, Inguinal hernia, Patent forame...	OMIM:613457
Rothmund-Thomson Syndrome Type 1	Aplastic anemia, Sparse or absent eyelashes, Short metacarpal, Microdontia, Tooth agenesis, Genu ...	ORPHA:221008
Neu-Laxova Syndrome 2	Rocker bottom foot, Finger syndactyly, Scoliosis, High palate, Ablepharon, Short neck, Micrognath...	OMIM:616038
Myopathy, Myofibrillar, 12, Infantile-Onset, With Cardiomyopathy	Left atrial enlargement, Hepatomegaly, Restrictive cardiomyopathy, Hypertrophic cardiomyopathy, R...	OMIM:619424
Peroxisome Biogenesis Disorder 5A (Zellweger)	Palpebral edema, Cholestasis, Death in adolescence, Death in infancy, Persistent open anterior fo...	OMIM:614866
Double Outlet Left Ventricle	Pulmonary valve atresia, Orofacial cleft, Double outlet left ventricle, Tricuspid atresia, Cyanos...	ORPHA:3427
X-Linked Female Restricted Facial Dysmorphism-Short Stature-Choanal Atresia-Intellectual Disability	Cardiomyopathy, Joint hypermobility, Overlapping toe, Long philtrum, Sacral dimple, Tooth malposi...	ORPHA:480880
Brachydactyly-Arterial Hypertension Syndrome	Short phalanx of finger, Short metacarpal, Brachydactyly	ORPHA:1276
Myoclonic-Astatic Epilepsy	Microphthalmia, Thick lower lip vermilion, Wide mouth, Syndactyly, Broad philtrum, Long philtrum,...	ORPHA:1942
Tetramelic Deficiencies, Ectodermal Dysplasia, Deformed Ears, And Other Abnormalities	Hypoplastic nipples, Ectodermal dysplasia, Abnormality of the dentition, Cleft upper lip, Nasolac...	OMIM:273400
Craniotelencephalic Dysplasia	Craniosynostosis, Microphthalmia, Optic nerve hypoplasia	OMIM:218670
Laurin-Sandrow Syndrome	Mirror image polydactyly, Tarsal synostosis, Triphalangeal thumb, Abnormal metacarpal morphology,...	ORPHA:2378
Hand-Foot-Genital Syndrome	Sacral dimple, Clinodactyly of the 5th finger, Proximal placement of thumb, Short first metatarsa...	ORPHA:2438
Chromosome 13Q14 Deletion Syndrome	Microphthalmia, Clinodactyly of the 5th finger, Inguinal hernia, Patent foramen ovale, High palat...	OMIM:613884
Cataract 11, Multiple Types	Microphthalmia	OMIM:610623
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
Keutel Syndrome	Emphysema, Premature fusion of phalangeal epiphyses, Epiphyseal stippling, Short hallux, Recurren...	OMIM:245150
Brain Malformation-Congenital Heart Disease-Postaxial Polydactyly Syndrome	Abnormality of the anterior pituitary, Postaxial hand polydactyly, Everted lower lip vermilion, P...	ORPHA:75389
Split-Hand/Foot Malformation 2	Finger syndactyly, Split hand, Short metacarpal, Split foot, Short phalanx of finger	OMIM:313350
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome	Cervical C2/C3 vertebral fusion, Highly arched eyebrow, Glossoptosis, Abnormal heart morphology, ...	ORPHA:444077
Marshall Syndrome	Small proximal tibial epiphyses, Bifid uvula, Irregular femoral epiphysis, Long philtrum, Irregul...	OMIM:154780
Chondrodysplasia-Difference Of Sex Development Syndrome	Abnormal shoulder morphology, Telecanthus, Narrow chest, Short metacarpal, Abnormal pelvic girdle...	ORPHA:1422
Fanconi Anemia, Complementation Group D2	Tracheoesophageal fistula, Aplasia of the 1st metacarpal, Bone marrow hypocellularity, Abnormal h...	OMIM:227646
Spondylometaphyseal Dysplasia, Sedaghatian Type	Myocarditis, Narrow chest, Short metacarpal, Abnormal rib morphology, Rhizomelic arm shortening, ...	ORPHA:93317
Hnf1B-Related Autosomal Dominant Tubulointerstitial Kidney Disease	Jaundice, Abnormality of endocrine pancreas physiology, Aplasia/Hypoplasia of the pancreas, Arthr...	ORPHA:93111
Gapo Syndrome	High, narrow palate, Thick lower lip vermilion, Hepatomegaly, Wide anterior fontanel, Eruption fa...	OMIM:230740
Tall Stature-Intellectual Disability-Renal Anomalies Syndrome	Abnormal right ventricle morphology, Chronic neutropenia, Tibial bowing, Mitral valve prolapse, L...	ORPHA:500095
Birk-Barel Syndrome	Sacral dimple, Short philtrum, Highly arched eyebrow, Single transverse palmar crease, High palat...	OMIM:612292
Nanophthalmos 4	Microphthalmia	OMIM:615972
Blepharophimosis-Intellectual Disability Syndrome, Sbbys Type	Bilateral single transverse palmar creases, Retrognathia, Neoplasm of the tongue, Thyroid hypopla...	ORPHA:3047
Johnson Neuroectodermal Syndrome	Absent eyelashes, Everted lower lip vermilion, Absent eyebrow, Carious teeth, Hand polydactyly, C...	ORPHA:2316
Lethal Short-Limb Skeletal Dysplasia, Al Gazali Type	Wide anterior fontanel, Wormian bones, Shortening of all phalanges of fingers, Platyspondyly, Sho...	OMIM:601356
Lambotte Syndrome	Retrognathia, Telecanthus, Narrow mouth, Ventricular septal defect, Preaxial foot polydactyly	OMIM:245552
Acromesomelic Dysplasia 2B	Fibular aplasia, Fibular hypoplasia, Deformed tarsal bones, Rhizomelia, Short metatarsal, Absent ...	OMIM:228900
Fanconi Anemia, Complementation Group C	Microphthalmia, Anemia, Pancytopenia, Reticulocytopenia, Anterior wedging of T12, Bone marrow hyp...	OMIM:227645
Alagille Syndrome 1	Hypoplasia of the ulna, Cirrhosis, Butterfly vertebral arch, Peripheral pulmonary artery stenosis...	OMIM:118450
Khan-Khan-Katsanis Syndrome	Trichiasis, Sacral dimple, Anemia, Triangular mouth, Highly arched eyebrow, Scoliosis, Patent for...	OMIM:618460
Microphthalmia, Isolated 1	Microphthalmia, Anophthalmia	OMIM:251600
Menkes Disease	Death in childhood, Metaphyseal spurs, Osteoporosis, Metaphyseal widening, Intracranial hemorrhag...	OMIM:309400
Phosphoribosylaminoimidazole Carboxylase Deficiency	Clinodactyly of the 5th finger, Esophageal atresia, Lumbar hemivertebrae, Missing ribs, Tracheoes...	OMIM:619859
Familial Thyroid Dyshormonogenesis	Delayed cranial suture closure, Delayed proximal femoral epiphyseal ossification, Prolonged neona...	ORPHA:95716
Frontonasal Dysplasia 2	Short palpebral fissure, Microphthalmia, Widely spaced teeth, Telecanthus, Conical tooth, Tessier...	OMIM:613451
Okur-Chung Neurodevelopmental Syndrome	Clinodactyly of the 5th finger, Inguinal hernia, Highly arched eyebrow, Single transverse palmar ...	OMIM:617062
Townes-Brocks Syndrome	Absent toe, Broad thumb, Wide mouth, Aplasia/Hypoplasia of the 3rd toe, Abnormal cardiac septum m...	ORPHA:857
Hypoparathyroidism-Retardation-Dysmorphism Syndrome	Thin vermilion border, Microphthalmia, Short foot, Patchy osteosclerosis, Short palm, Bifid uvula...	OMIM:241410
Dpagt1-Cdg	Hepatomegaly, Anemia, Scoliosis, Camptodactyly, Osteoporosis, Arachnodactyly, Stroke-like episode...	ORPHA:86309
Dent Disease 1	Rickets, Fibular bowing, Delayed epiphyseal ossification, Enlargement of the wrists, Enlargement ...	OMIM:300009
Skin Creases, Congenital Symmetric Circumferential, 2	Short palpebral fissure, Microphthalmia, Clinodactyly of the 5th finger, Blepharophimosis, 2-3 to...	OMIM:616734
Noonan Syndrome-Like Disorder With Loose Anagen Hair 1	Cubitus valgus, Deep palmar crease, Inguinal hernia, Abnormal sternum morphology, Myelofibrosis, ...	OMIM:607721
Macrocephaly-Intellectual Disability-Left Ventricular Non Compaction Syndrome	Kyphoscoliosis, Dental crowding, Wide mouth, Left ventricular hypertrophy, Joint hypermobility, S...	ORPHA:466791
Orofaciodigital Syndrome Xiv	Short ribs, Aplasia of the epiglottis, Postaxial hand polydactyly, Cleft palate, Lobulated tongue...	OMIM:615948
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
Myopathy With Extrapyramidal Signs	Hepatomegaly, Calf muscle hypertrophy, Leukocytosis, Ptosis, Splenomegaly, Epicanthus, Tented upp...	OMIM:615673
Congenital Insensitivity To Pain With Severe Intellectual Disability	Rocker bottom foot, Short palpebral fissure, Congenital bilateral hip dislocation, Tibial bowing,...	ORPHA:453510
Gomez-Lopez-Hernandez Syndrome	Thin vermilion border, Wide anterior fontanel, High palate, Downslanted palpebral fissures, Smoot...	OMIM:601853
Halperin-Birk Syndrome	Congenital diaphragmatic hernia, Perimembranous ventricular septal defect, Death in childhood, Ga...	OMIM:618651
Galloway-Mowat Syndrome 3	Microphthalmia, Narrow mouth, High palate, Camptodactyly, Arachnodactyly, Coarctation of aorta, D...	OMIM:617729
Muscular Hypertrophy-Hepatomegaly-Polyhydramnios Syndrome	Orofacial cleft, Microphthalmia	ORPHA:324416
Nijmegen Breakage Syndrome	Autoimmune hemolytic anemia, Acute leukemia, Retrognathia, Anal stenosis, Anorectal anomaly, Cuta...	ORPHA:647
Cryptogenic Organizing Pneumonia	Pneumothorax, Respiratory distress, Leukocytosis, Hypoxemia, Neutrophilia, Cyanosis	ORPHA:1302
Cleft Lip/Palate-Deafness-Sacral Lipoma Syndrome	Non-midline cleft of the upper lip, Bilateral cleft palate, Tooth agenesis, Sacral lipoma, Hip di...	ORPHA:2003
Congenital Tricuspid Valve Dysplasia	Tricuspid valve prolapse, Hepatomegaly, Cyanosis, Abnormal tricuspid valve annulus morphology, Pa...	ORPHA:555874
Brachydactyly-Syndactyly Syndrome	Finger syndactyly, Oligodactyly, Camptodactyly, Short phalanx of finger, Syndactyly, Brachydactyl...	OMIM:610713
Epidermolysis Bullosa, Junctional 5B, With Pyloric Atresia	Ectropion, Axillary pterygium, Esophageal atresia, Atrophic scars, Congenital pyloric atresia, De...	OMIM:226730
Criss-Cross Heart	Transposition of the great arteries, Cyanosis, Tricuspid stenosis, Pulmonic stenosis, Abnormal mi...	ORPHA:1461
Adams-Oliver Syndrome 5	Inguinal hernia, Patent foramen ovale, Esophageal varix, Right atrial enlargement, Portal vein th...	OMIM:616028
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
Witteveen-Kolk Syndrome	Congenital diaphragmatic hernia, Radial deviation of finger, Proximal placement of thumb, Shallow...	OMIM:613406
Nievergelt Syndrome	Pes cavus, Tarsal synostosis, Genu valgum, Metatarsus adductus, Radial head subluxation, Mesomeli...	OMIM:163400
Renal Tubulopathy, Diabetes Mellitus, And Cerebellar Ataxia	Rickets, Hepatomegaly, Death in childhood, Death in adolescence, Osteoporosis, Ptosis	OMIM:560000
Retinitis Pigmentosa With Or Without Skeletal Anomalies	Short metacarpal, Sparse eyelashes, Downslanted palpebral fissures, Sparse eyebrow, Metaphyseal d...	OMIM:250410
Acromesomelic Dysplasia 3	Hypoplasia of the ulna, Fibular aplasia, Short finger, Radial deviation of finger, Tarsal synosto...	OMIM:609441
Biemond Syndrome Type 2	Preaxial polydactyly, Microphthalmia	ORPHA:141333
Multiple Benign Circumferential Skin Creases On Limbs	Microphthalmia, Inguinal hernia, Cleft palate, Epicanthus, Umbilical hernia, Long philtrum	ORPHA:2505
Renal Hypodysplasia/Aplasia 1	Retrognathia, Pulmonary hypoplasia, Talipes equinovarus	OMIM:191830
Neurofibromatosis Type 1 Due To Nf1 Mutation Or Intragenic Deletion	Kyphoscoliosis, Hyperlordosis, Pectus excavatum, Pulmonic stenosis, Sinusitis, Abnormal heart mor...	ORPHA:363700
Tenorio Syndrome	Osteopenia, Recurrent aphthous stomatitis, Telecanthus, Scoliosis, Delayed cranial suture closure...	OMIM:616260
Multiple Synostoses Syndrome 2	Finger symphalangism, Tarsal synostosis, Talipes equinovarus, Proximal symphalangism, Humeroradia...	OMIM:610017
Microphthalmia/Coloboma 10	Microphthalmia, Anophthalmia	OMIM:616428
Intellectual Disability-Seizures-Abnormal Gait-Facial Dysmorphism Syndrome	Pes cavus, Everted upper lip vermilion, Absent cupid's bow, Widely spaced teeth, Gastroesophageal...	ORPHA:513456
Craniofacial-Deafness-Hand Syndrome	Telecanthus, Hypoplasia of the maxilla, Downslanted palpebral fissures, Ulnar deviation of the ha...	OMIM:122880
Autoimmune Pulmonary Alveolar Proteinosis	Foam cells, Crazy paving pattern, Intraalveolar phospholipid accumulation, Clubbing, Hypoxemia, C...	ORPHA:747
Knobloch Syndrome	Dextrocardia, Pyloric stenosis, Lymphangioma, Epicanthus, Patent ductus arteriosus, Joint hypermo...	ORPHA:1571
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency	Abnormal metaphysis morphology, Aganglionic megacolon, Reduced bone mineral density, Anemia, Ingu...	ORPHA:935
Very Long Chain Acyl-Coa Dehydrogenase Deficiency	Atrial septal defect, Jaundice, Hepatomegaly, Respiratory distress, Patent foramen ovale, Tachypn...	ORPHA:26793
Propionic Acidemia	Cerebellar hemorrhage, Hepatomegaly, Pancreatitis, Anemia, Pancytopenia, Cardiomyopathy, Osteopor...	OMIM:606054
Arthrogryposis, Renal Dysfunction, And Cholestasis 1	Cholestatic liver disease, Giant cell hepatitis, Jaundice, Intrahepatic biliary atresia, Patent f...	OMIM:208085
Alpha-Thalassemia	Anisopoikilocytosis, Hemoglobin Barts, Hyperplasia of the maxilla, Jaundice, Anemia, Cholelithias...	ORPHA:846
Generalized Arterial Calcification Of Infancy	Calcification of the aorta, Ventricular hypertrophy, Pancreatic calcification, Abnormal retinal a...	ORPHA:51608
Oncogenic Osteomalacia	Abnormal fibula morphology, Abnormal femur morphology, Abnormal foot morphology, Abnormal vertebr...	ORPHA:352540
Hsd10 Disease, Infantile Type	Hypertrophic cardiomyopathy, Dysphagia, Gastrointestinal dysmotility, Cardiomegaly, Cyanosis	ORPHA:391428
Isotretinoin-Like Syndrome	Abnormal aortic arch morphology, Inguinal hernia, Abnormal cardiac ventricle morphology, Abnormal...	ORPHA:2306
Benign Familial Neonatal Epilepsy	Circumoral cyanosis, Apnea, Gastroesophageal reflux	ORPHA:1949
Brittle Cornea Syndrome	Scoliosis, Abnormality of the dentition, Camptodactyly, Corneal scarring, Pulmonic stenosis, Arac...	ORPHA:90354
Syndromic Recessive X-Linked Ichthyosis	Acute leukemia, Testicular seminoma, Abnormality of the abdominal wall, Abnormal stomach morpholo...	ORPHA:281090
Weill-Marchesani Syndrome	Limitation of joint mobility, Pulmonic stenosis, Aortic valve stenosis, Short thumb, Brachydactyl...	ORPHA:3449
Odontochondrodysplasia 2 With Hearing Loss And Diabetes	Osteopenia, Retrognathia, Clinodactyly of the 5th finger, Cone-shaped epiphyses of the phalanges ...	OMIM:619269
Beckwith-Wiedemann Syndrome	Large fontanelles, Hepatomegaly, Cardiomyopathy, Diastasis recti, Omphalocele, Prominent metopic ...	OMIM:130650
Fucosidosis	Lipoatrophy, Abnormality of the gallbladder, Hepatomegaly, Anterior beaking of lumbar vertebrae, ...	ORPHA:349
Hypophosphatemic Rickets, Autosomal Dominant	Rickets, Osteomalacia, Hypophosphatemic rickets, Abnormality of the dentition	OMIM:193100
Cardiomyopathy, Dilated, 2H	Secundum atrial septal defect, Tachypnea, Muscular ventricular septal defect, Neonatal death	OMIM:620203
Coccidioidomycosis	Broad metatarsal, Pericarditis, Broad ribs, Osteolysis, Abnormal metacarpal morphology, Vasculiti...	ORPHA:228123
Fanconi Anemia, Complementation Group N	Aplastic anemia, Hypoplasia of the radius, Microphthalmia, Acute myeloid leukemia, Anal atresia, ...	OMIM:610832
Peripheral Dysostosis	Short phalanx of finger, Hip osteoarthritis, Cone-shaped epiphyses of the phalanges of the hand	OMIM:170700
Breath-Holding Spells	Cyanosis, Iron deficiency anemia	OMIM:607578
Mullegama-Klein-Martinez Syndrome	Polydactyly, Congenital diaphragmatic hernia, Clinodactyly of the 5th finger, Curly eyelashes, Sh...	OMIM:301022
Dihydropyrimidine Dehydrogenase Deficiency	Microphthalmia	OMIM:274270
Triokinase And Fmn Cyclase Deficiency Syndrome	Microphthalmia, Hepatomegaly, Pancreatitis, Dilated cardiomyopathy, Hepatic steatosis, Microcytic...	OMIM:618805
Mckusick-Kaufman Syndrome	Aganglionic megacolon, Rectovaginal fistula, Postaxial hand polydactyly, Anal atresia, Congenital...	OMIM:236700
Bladder Exstrophy	Bladder exstrophy, Inguinal hernia, Abnormality of the anus, Omphalocele, Intestinal malrotation,...	ORPHA:93930
Fanconi Anemia, Complementation Group J	Bone marrow hypocellularity, Microphthalmia, Short thumb	OMIM:609054
Carpenter Syndrome 2	Highly arched eyebrow, Broad thumb, Ectropion of lower eyelids, Umbilical hernia, Long philtrum, ...	OMIM:614976
Kleefstra Syndrome Due To 9Q34 Microdeletion	Inguinal hernia, Highly arched eyebrow, Conotruncal defect, Everted lower lip vermilion, Femoral ...	ORPHA:96147
Pontocerebellar Hypoplasia, Type 17	Patent ductus arteriosus, Gastroesophageal reflux, Kyphosis, Secundum atrial septal defect, Dysph...	OMIM:619909
Atrial Septal Defect, Ostium Primum Type	Left atrial enlargement, Cyanosis, Recurrent respiratory infections, Clubbing of fingers, Right a...	ORPHA:99106
Telangiectasia, Hereditary Hemorrhagic, Type 2	Tongue telangiectasia, Hematemesis, Nail bed telangiectasia, Clubbing, Nasal mucosa telangiectasi...	OMIM:600376
Cholestasis, Progressive Familial Intrahepatic, 1	Osteopenia, Rickets, Cirrhosis, Jaundice, Hepatomegaly, Cholelithiasis, Intrahepatic cholestasis ...	OMIM:211600
Sepsis In Premature Infants	Purpura, Jaundice, Anemia, Hepatomegaly, Functional abnormality of the gastrointestinal tract, Pe...	ORPHA:90051
Seizures, Scoliosis, And Macrocephaly/Microcephaly Syndrome	Reduced bone mineral density, Clinodactyly of the 5th finger, Gastroesophageal reflux, Scoliosis,...	OMIM:616682
Mandibuloacral Dysplasia With Type A Lipodystrophy	Large fontanelles, Absent eyelashes, Osteolytic defects of the distal phalanges of the hand, High...	ORPHA:90153
Aicardi-Goutieres Syndrome 1	Purpura, Hepatomegaly, Petechiae, Vasculitis, Cardiomyopathy, Prolonged neonatal jaundice, Thromb...	OMIM:225750
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy	Impaired lymphocyte transformation with phytohemagglutinin, B lymphocytopenia, Restrictive cardio...	OMIM:619313
Autosomal Dominant Hypophosphatemic Rickets	Rickets, Iron deficiency anemia, Tooth abscess, Osteomalacia, Bowing of the legs	ORPHA:89937
Lung Agenesis, Congenital Heart Defects, And Thumb Anomalies Syndrome	Bilateral lung agenesis, Coarctation of aorta, Neonatal death, Patent ductus arteriosus, Abnormal...	OMIM:601612
Ehlers-Danlos Syndrome, Vascular Type	Hypermobility of distal interphalangeal joints, Repeated pneumothoraces, Pectus excavatum, Cigare...	OMIM:130050
Hepatoportal Sclerosis	Abnormal liver parenchyma morphology, Gastric varix, Jaundice, Anemia, Gastrointestinal hemorrhag...	ORPHA:64743
Pseudo-Torch Syndrome 2	Hepatomegaly, Petechiae, Thin ribs, Pleural effusion, Secundum atrial septal defect, Thrombocytop...	OMIM:617397
Joubert Syndrome 3	Highly arched eyebrow, Ptosis, Epicanthus, Open mouth, Atrial septal defect, Central apnea, Episo...	OMIM:608629
Incontinentia Pigmenti	Orofacial cleft, Microphthalmia, Spina bifida occulta, Delayed eruption of teeth, Finger syndacty...	ORPHA:464
Foveal Hypoplasia 2	Microphthalmia, Hypoplasia of the fovea	OMIM:609218
Tyrosinemia Type 1	Splenomegaly, Hepatomegaly, Hepatocellular carcinoma, Rickets of the lower limbs	ORPHA:882
Bacterial Toxic-Shock Syndrome	Myocarditis, Fasciitis, Pneumonia, Respiratory distress, Arthritis, Abnormality of the upper limb...	ORPHA:36234
Smooth Muscle Dysfunction Syndrome	Dilatation of the cerebral artery, Vascular dilatation, Common carotid artery aneurysm, Brachioce...	OMIM:613834
Isolated Cleft Lip	Situs inversus totalis, Supernumerary maxillary incisor, Non-midline cleft of the upper lip, Velo...	ORPHA:199302
Laryngeal Abductor Paralysis	Cyanosis, Dysphagia, Talipes equinovarus	OMIM:150260
Seckel Syndrome 2	Microphthalmia, Clinodactyly of the 5th finger, Microdontia, Microglossia	OMIM:606744
Laryngotracheal Angioma	Apnea, Cyanosis, Intercostal retractions, Respiratory distress	ORPHA:137935
Intellectual Developmental Disorder, Autosomal Dominant 53	Genu valgum, Cryptorchidism, Intestinal malrotation, Downslanted palpebral fissures, Wide mouth, ...	OMIM:617798
Fanconi Anemia, Complementation Group F	Hypoplasia of the radius, Microphthalmia, Sacral dimple, Anemia, Bone marrow hypocellularity, Abs...	OMIM:603467
Meacham Syndrome	Abnormal lung lobation, Situs inversus totalis, Congenital diaphragmatic hernia, Transposition of...	ORPHA:3097
Renal Agenesis	Talipes equinovarus, Ventricular septal defect, Pulmonary hypoplasia, Anal atresia	ORPHA:411709
Hemangiomas, Cavernous, Of Face And Supraumbilical Midline Raphe	Right aortic arch, Coarctation of aorta, Bifid sternum	OMIM:140850
Pancreatic And Cerebellar Agenesis	Anemia, Pectus carinatum, Pancreatic hypoplasia, Pancreatic aplasia, Death in infancy, Joint stif...	OMIM:609069
Ciliary Dyskinesia, Primary, 53	Situs inversus totalis, Perimembranous ventricular septal defect, Patent foramen ovale, Right aor...	OMIM:620642
Staphylococcal Necrotizing Pneumonia	Pneumothorax, Pulmonary pneumatocele, Respiratory distress, Acute infectious pneumonia, Pleural e...	ORPHA:36238
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion	Broad distal phalanx of finger, Dental crowding, Pulmonic stenosis, Aortic valve stenosis, Intest...	ORPHA:353281
Hereditary Hypophosphatemic Rickets With Hypercalciuria	Reduced bone mineral density, Hypophosphatemic rickets, Osteomalacia, Rachitic rosary, Pathologic...	ORPHA:157215
Symphalangism, Distal, With Microdontia, Dental Pulp Stones, And Narrowed Zygomatic Arch	Cone-shaped epiphyses of the middle phalanges of the hand, Absent trapezium, Absent scaphoid, Dis...	OMIM:606895
Recurrent Respiratory Papillomatosis	Atelectasis, Respiratory distress, Tracheomalacia, Abnormal lung morphology, Recurrent pneumonia,...	ORPHA:60032
Kleefstra Syndrome 1	Tracheobronchomalacia, Conotruncal defect, Everted lower lip vermilion, Protruding tongue, Persis...	OMIM:610253
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of	Hepatomegaly, Gastroesophageal reflux, Periportal fibrosis, Necrotizing enterocolitis, Hypertroph...	OMIM:201475
Neurodevelopmental Disorder With Impaired Language And Ataxia And With Or Without Seizures	Hand clenching, Apnea, Cyanosis, Protruding tongue	OMIM:619580
Grant Syndrome	Wormian bones, Tibial bowing, Down-sloping shoulders	OMIM:138930
Cardiac Valvular Dysplasia 1	Left atrial enlargement, Hypoplasia of right ventricle, Tricuspid valve prolapse, Muscular ventri...	OMIM:212093
Nephrotic Syndrome, Type 1	Pyloric stenosis, Gastroesophageal reflux	OMIM:256300
Microphthalmia/Coloboma And Skeletal Dysplasia Syndrome	Microphthalmia, Anophthalmia, 2-3 toe syndactyly, Recurrent patellar dislocation, Long eyelashes,...	OMIM:615877
Polysyndactyly With Cardiac Malformation	Stillbirth, Duplication of phalanx of hallux, Syndactyly, Preaxial hand polydactyly, Hepatic cyst...	OMIM:263630
Multifocal Atrial Tachycardia	Hypertrophic cardiomyopathy, Cryptorchidism, Pulmonic stenosis, Tachypnea, Left ventricular dilat...	ORPHA:3282
Ayme-Gripp Syndrome	Broad eyebrow, Delayed cranial suture closure, Narrow mouth, Abnormality of the dentition, Campto...	OMIM:601088
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2	Cholestatic liver disease, Cirrhosis, Hepatomegaly, Anemia, Lymphadenopathy, Accessory spleen, Mi...	OMIM:619418
Avian Influenza	Pneumothorax, Respiratory distress, Miscarriage, Lymphopenia, Pleural effusion, Hypoxemia, Thromb...	ORPHA:454836
Beaulieu-Boycott-Innes Syndrome	Short palpebral fissure, Carious teeth, Velopharyngeal insufficiency, Micrognathia, Patent ductus...	OMIM:613680
Pulmonary Atresia With Ventricular Septal Defect	Ventricular septal defect, Pulmonary artery atresia	OMIM:178370
Sting-Associated Vasculopathy, Infantile-Onset	Anemia, Recurrent respiratory infections, Livedo reticularis, Joint stiffness, Paratracheal lymph...	OMIM:615934
Cerebrooculonasal Syndrome	Narrow palate, Solitary median maxillary central incisor, Anophthalmia, Optic nerve hypoplasia, H...	OMIM:605627
Mosaic Variegated Aneuploidy Syndrome	Abnormal lung lobation, Intestinal polyposis, Clinodactyly of the 5th finger, Stomach cancer, Abn...	ORPHA:1052
Congenital Varicella Syndrome	Atypical scarring of skin, Microphthalmia	ORPHA:291
Delpire-Mcneill Syndrome	Ventricular septal defect, Dysphagia, Tracheoesophageal fistula, Hip dislocation	OMIM:619083
Acute Lung Injury	Abnormal pulmonary interstitial morphology, Respiratory distress, Acute pancreatitis, Hypoxemia, ...	ORPHA:178320
Waardenburg Syndrome, Type 1	Premature graying of hair, Orofacial cleft, Telecanthus, Mandibular prognathia, Supernumerary ver...	OMIM:193500
Complete Atrioventricular Septal Defect	Displacement of the papillary muscles, Hepatomegaly, Intercostal retractions, Primum atrial septa...	ORPHA:1329
Mitochondrial Complex Iv Deficiency, Nuclear Type 10	Microphthalmia, Hepatomegaly, High palate, Hypertrophic cardiomyopathy	OMIM:619053
Fatco Syndrome	Abnormal fibula morphology, Tarsal synostosis, Abnormal tibia morphology, Finger syndactyly, Spli...	ORPHA:2492
Joubert Syndrome 22	2-3 toe syndactyly, Microphthalmia, Postaxial hand polydactyly, Postaxial foot polydactyly	OMIM:615665
Necrotizing Enterocolitis	Gastroschisis, Leukocytosis, Abnormal heart morphology, Thrombocytopenia, Apnea, Peritonitis, Cya...	ORPHA:391673
Xeroderma Pigmentosum, Complementation Group G	Microphthalmia	OMIM:278780
Chronic Pneumonitis Of Infancy	Mediastinal lymphadenopathy, Intercostal retractions, Respiratory distress, Hypoxemia, Tachypnea,...	ORPHA:91359
Proteus Syndrome	Macrodactyly, Bronchogenic cyst, Arteriovenous malformation, Asymmetry of the thorax, Abnormal fo...	ORPHA:744
Congenital Disorder Of Glycosylation, Type Iiw	Pectus carinatum, Pectus excavatum, Prolonged neonatal jaundice, Splenomegaly, Hepatic steatosis,...	OMIM:619525
X-Linked Intellectual Disability, Armfield Type	Limited elbow extension, Short philtrum, Inguinal hernia, Abnormal cardiac septum morphology, Man...	ORPHA:85276
Holoprosencephaly 14	Aortic valve atresia, Cleft palate, Double outlet right ventricle, Cleft lip, Ventricular septal ...	OMIM:619895
Serrated Polyposis Syndrome	Ovarian neoplasm, Pancreatic adenocarcinoma, Gastric diverticulum, Colorectal polyposis, Biliary ...	ORPHA:157798
Proboscis Lateralis	Orofacial cleft, Microphthalmia, Agenesis of canine, Anophthalmia, Orbital cyst, Abnormal nasolac...	ORPHA:141099
Mccune-Albright Syndrome	Monostotic fibrous dysplasia, Hepatocellular adenoma, Abnormal femur morphology, Pancreatitis, Fi...	ORPHA:562
Vascular Ehlers-Danlos Syndrome	Pulmonary artery aneurysm, Arteriovenous fistulas of celiac and mesenteric vessels, Arteriovenous...	ORPHA:286
Arthrogryposis, Renal Dysfunction, And Cholestasis 2	Cholestatic liver disease, Jaundice, Giant cell hepatitis, Hepatomegaly, Ventricular septal defec...	OMIM:613404
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4	Atrial septal defect, Spinal rigidity, Transposition of the great arteries, Microphthalmia, Scoli...	OMIM:253800
Nance-Horan Syndrome	Supernumerary tooth, Short metacarpal, Microphthalmia, Abnormality of the dentition	ORPHA:627
Congenital Disorder Of Glycosylation, Type Iiaa	Hepatomegaly, Narrow chest, Short long bone, Cholestasis, Biliary cirrhosis, Bilateral talipes eq...	OMIM:620454
Histiocytoid Cardiomyopathy	Pulmonary edema, Hepatomegaly, Cyanosis, Stroke-like episode, Cleft palate, Cardiomegaly, Tachypn...	ORPHA:137675
Stromme Syndrome	Stillbirth, Preaxial polydactyly, Microphthalmia, Accessory spleen, Optic nerve hypoplasia, Intes...	OMIM:243605
Rhombencephalosynapsis	Polydactyly, Aganglionic megacolon, Esophageal atresia, Finger syndactyly, Narrow mouth, Anal atr...	ORPHA:59315
Encephalocraniocutaneous Lipomatosis	Microphthalmia, Lipoma, Limbal dermoid, Hypoplasia of the iris, Multiple central nervous system l...	OMIM:613001
Hypophosphatemic Bone Disease	Rickets, Osteomalacia, Bowing of the legs	OMIM:146350
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1	Occipital encephalocele, Hydrocephalus, Dandy-Walker malformation, Type II lissencephaly, Polymic...	OMIM:236670
Ventricular Septal Defect 1	Atrioventricular canal defect, Pulmonic stenosis, Tetralogy of Fallot, Atrial septal defect, Vent...	OMIM:614429
Phocomelia, Schinzel Type	Aplasia/Hypoplasia involving the pelvis, Tracheoesophageal fistula, Hypoplasia of the radius, Fib...	ORPHA:2879
Arteriosclerosis, Severe Juvenile	Calcification of the aorta, Central retinal vessel vascular tortuosity, Anemia, Arteriosclerosis,...	OMIM:208060
Microphthalmia/Coloboma 7	Microphthalmia	OMIM:614497
Melanocytic Nevus Syndrome, Congenital	Everted lower lip vermilion, Open mouth, Long philtrum, Prominence of the premaxilla, Deep philtrum	OMIM:137550
Knobloch Syndrome 2	Abnormal pulmonary interstitial morphology, Pyloric stenosis, Enamel hypoplasia, Micrognathia, Pa...	OMIM:618458
Joubert Syndrome 1	Triangular-shaped open mouth, Central apnea, Highly arched eyebrow, Postaxial hand polydactyly, P...	OMIM:213300
Microphthalmia, Isolated 6	Microphthalmia	OMIM:613517
Microphthalmia, Isolated 2	Microphthalmia	OMIM:610093
Glycogen Storage Disease Of Heart, Lethal Congenital	Pulmonary edema, Cyanosis, Respiratory distress, Cardiomyopathy, Pleural effusion, Hypertrophic c...	OMIM:261740
Williams-Beuren Syndrome	Kyphoscoliosis, Premature graying of hair, Pectus excavatum, Microdontia, Pulmonic stenosis, Mitr...	OMIM:194050
Mitochondrial Short-Chain Enoyl-Coa Hydratase 1 Deficiency	Apnea, Ventricular septal defect, Hypertrophic cardiomyopathy, Death in infancy	OMIM:616277
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis	Hepatomegaly, Chronic hemolytic anemia, Death in childhood, Atelectasis, Recurrent respiratory in...	OMIM:618278
Congenital Muscular Dystrophy With Cerebellar Involvement	Microphthalmia, Optic nerve hypoplasia, Cardiomyopathy, Macroglossia, Lumbar hyperlordosis	ORPHA:370959
Talonavicular Coalition	Clinodactyly of the 5th finger, Short hallux, Proximal/middle symphalangism of 5th finger, Abnorm...	OMIM:186750
Pyruvate Dehydrogenase E1-Alpha Deficiency	Pes cavus, Talipes, Gastroesophageal reflux, Single transverse palmar crease, Limb undergrowth, F...	ORPHA:79243
Fadd-Related Immunodeficiency	Hepatic fibrosis, Ventricular septal defect, Pulmonary artery atresia	ORPHA:306550
Oligomeganephronia	Congenital diaphragmatic hernia, Pulmonary venous occlusion, Micrognathia, Secundum atrial septal...	ORPHA:2260
Microphthalmia/Coloboma 3	Microphthalmia	OMIM:610092
Idiopathic Uveal Effusion Syndrome	Microphthalmia	ORPHA:209956
Hydrocephaly-Low Insertion Umbilicus Syndrome	Hernia of the abdominal wall, Tetralogy of Fallot, Epicanthus, Patent ductus arteriosus, Anomalou...	ORPHA:2184
Hyperparathyroidism, Neonatal Severe	Hepatomegaly, Anemia, Narrow chest, Primary hyperparathyroidism, Splenomegaly, Metaphyseal irregu...	OMIM:239200
Microcephaly-Corpus Callosum Hypoplasia-Intellectual Disability-Facial Dysmorphism Syndrome	Upper eyelid entropion, Clinodactyly of the 5th finger, Inguinal hernia, Hypoplastic aortic arch,...	ORPHA:457284
Hereditary Pulmonary Alveolar Proteinosis	Foam cells, Respiratory distress, Acute infectious pneumonia, Crazy paving pattern, Hypoxemia, Ta...	ORPHA:264675
Trichohepatoenteric Syndrome 1	Cirrhosis, Jaundice, Hepatomegaly, Cholestasis, Ventricular septal defect, Narrow mouth, Pulmonic...	OMIM:222470
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 2	Ileal atresia, Microcolon, Pulmonary hypoplasia, Peritonitis, Patent ductus arteriosus, Prune bel...	OMIM:619351
Nephronophthisis 2	Situs inversus totalis, Pulmonary hypoplasia	OMIM:602088
Coloboma, Osteopetrosis, Microphthalmia, Macrocephaly, Albinism, And Deafness	Microphthalmia, Osteopetrosis, Clinodactyly of the 5th finger, Increased bone mineral density, Sh...	OMIM:617306
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, Hepatomegaly, Platyspond...	OMIM:102700
Penile Agenesis	Rectal fistula, Bilateral lung agenesis, Anorectal anomaly, Cloacal abnormality, Anal atresia, Tr...	ORPHA:49
Osteopetrosis, Autosomal Recessive 7	Femur fracture, Osteopetrosis, Hepatomegaly, Anemia, Death in childhood, Death in infancy, Abnorm...	OMIM:612301
Microphthalmia With Brain And Digit Anomalies	Microphthalmia, Proximal placement of thumb, Anophthalmia, Finger syndactyly, High palate, Postax...	ORPHA:139471
Endove Syndrome, Limb-Brain Type	Aplasia of the 3rd finger, Talar aplasia, Triangular tibia, Umbilical hernia, Joint hypermobility...	OMIM:619218
Silver-Russell Syndrome 1	Clinodactyly of the 5th finger, Delayed cranial suture closure, Hepatocellular carcinoma, Short m...	OMIM:180860
Orofaciodigital Syndrome Type 14	Supernumerary tooth, Aplasia of the epiglottis, Deviation of the hallux, Telecanthus, Ventricular...	ORPHA:434179
White-Kernohan Syndrome	Short palpebral fissure, Rectovaginal fistula, Telecanthus, Joint hypermobility, Metopic synostos...	OMIM:619426
X-Linked Intellectual Disability, Miles-Carpenter Type	Joint hypermobility, Rocker bottom foot	ORPHA:85283
Osteopetrosis, Autosomal Recessive 8	Osteopetrosis, Hepatomegaly, Anemia, Unilateral microphthalmos, Thrombocytopenia, Splenomegaly	OMIM:615085
Deafness, X-Linked 7	Ptosis, Thick eyebrow, Unilateral microphthalmos, Telecanthus	OMIM:301018
Warburg Micro Syndrome 4	Microphthalmia, Narrow mouth, Ptosis, Flexion contracture, Long philtrum	OMIM:615663
Thoracic Outlet Syndrome	Varicose veins, Abnormal rib morphology	ORPHA:97330
Holoprosencephaly 4	Ptosis, Median cleft upper lip, Median cleft palate	OMIM:142946
Peripheral Motor Neuropathy-Dysautonomia Syndrome	Joint stiffness, Achalasia, Acrocyanosis	ORPHA:2400
Intrinsic Factor And R Binder, Combined Congenital Deficiency Of	Megaloblastic anemia, Absence of intrinsic factor	OMIM:243320
Adams-Oliver Syndrome 2	Narrow palpebral fissure, Short middle phalanx of finger, Absent distal phalanges, Microphthalmia	OMIM:614219
Trichothiodystrophy 4, Nonphotosensitive	Microphthalmia, Sparse eyelashes, Hypoplasia of teeth, Epicanthus, Ventricular septal defect, Ker...	OMIM:234050
Intellectual Disability-Dysmorphism-Hypogonadism-Diabetes Mellitus Syndrome	Breast aplasia, Mandibular prognathia, Hypoplasia of the maxilla, Decreased testicular size, Elev...	ORPHA:3044
Bile Acid Synthesis Defect, Congenital, 1	Rickets, Cirrhosis, Jaundice, Intrahepatic cholestasis, Giant cell hepatitis, Hepatomegaly, Steat...	OMIM:607765
Juvenile Neuronal Ceroid Lipofuscinosis	Aspiration pneumonia, Apnea, Abnormal heart morphology, Dysphagia, Episodic tachypnea	ORPHA:79264
Multiple Mitochondrial Dysfunctions Syndrome 2 With Hyperglycinemia	Hepatomegaly, Respiratory distress, Hypertrophic cardiomyopathy, Death in infancy, Tachypnea, Dil...	OMIM:614299
Native American Myopathy	Bilateral ptosis, High palate, Camptodactyly, Congenital contracture, Downturned corners of mouth...	ORPHA:168572
Thauvin-Robinet-Faivre Syndrome	Long foot, Inguinal hernia, Long palpebral fissure, Long hallux, Downslanted palpebral fissures, ...	OMIM:617107
Meckel Syndrome 12	Rocker bottom foot, Micrognathia, Bifid uvula, Antecubital pterygium, Arthrogryposis multiplex co...	OMIM:616258
Eisenmenger Syndrome	Hepatomegaly, Hypochromic microcytic anemia, Iron deficiency anemia, Atrioventricular canal defec...	ORPHA:97214
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation	Ankle flexion contracture, Gastroesophageal reflux, Scoliosis, Short foot, Pectus excavatum, Cryp...	ORPHA:464311
Meckel Syndrome, Type 7	Situs inversus totalis, Inguinal hernia, Cholestasis, Biliary cirrhosis, Portal hypertension, Bil...	OMIM:267010
Acquired Methemoglobinemia	Respiratory distress, Hypoxemia, Cyanosis, Methemoglobinemia	ORPHA:464453
Microphthalmia, Isolated 5	Microphthalmia	OMIM:611040
X-Linked Lissencephaly With Abnormal Genitalia	Aganglionic megacolon, Death in infancy, Cryptorchidism, Micrognathia, Exocrine pancreatic insuff...	ORPHA:452
Cryofibrinogenemia, Familial Primary	Acrocyanosis	OMIM:123540
Knobloch Syndrome 1	Telecanthus, Spina bifida occulta, Horizontal eyebrow, Pyloric stenosis, Epicanthus, Patent ductu...	OMIM:267750
Treacher Collins Syndrome 1	Bilateral microphthalmos, Upper eyelid coloboma, Cleft soft palate, Narrow mouth, Ptosis, Downsla...	OMIM:154500
Incontinentia Pigmenti	Kyphoscoliosis, Scarring, Microphthalmia, Delayed eruption of teeth, Conical tooth, Oligodontia, ...	OMIM:308300
D-Bifunctional Protein Deficiency	Osteopenia, Large fontanelles, Hepatomegaly, Hammertoe, Delayed cranial suture closure, Cholestas...	OMIM:261515
Hypertelorism-Hypospadias-Polysyndactyly Syndrome	Large fontanelles, Sacral dimple, Finger syndactyly, Delayed cranial suture closure, Broad thumb,...	ORPHA:2211
Biliary, Renal, Neurologic, And Skeletal Syndrome	Inlet ventricular septal defect, Intrahepatic bile duct dilatation, Cholestasis, Biliary cirrhosi...	OMIM:619534
Autosomal Dominant Cutis Laxa	Joint hypermobility, Adducted thumb, Hernia, Talipes calcaneovalgus, Hip dislocation, Inguinal he...	ORPHA:90348
Cataract 9, Multiple Types	Microphthalmia	OMIM:604219
Exstrophy-Epispadias Complex	Anal stenosis, Abnormality of the orbital region, Inguinal hernia, Anal atresia, Omphalocele, Abn...	ORPHA:322
Pontine Tegmental Cap Dysplasia	Scoliosis, Hemivertebrae, Rib fusion, Ptosis, Dysphagia, Ankle clonus	OMIM:614688
Cortical Dysplasia, Complex, With Other Brain Malformations 6	Microphthalmia	OMIM:615771
Branchial Arch Abnormalities, Choanal Atresia, Athelia, Hearing Loss, And Hypothyroidism Syndrome	Microphthalmia, Aplasia of the thymus, Downslanted palpebral fissures, Patent foramen ovale, Spar...	OMIM:620186
Sotos Syndrome	Pectus excavatum, Kyphosis, Agenesis of permanent teeth, Prolonged neonatal jaundice, Abnormal he...	ORPHA:821
Intellectual Developmental Disorder, Autosomal Dominant 71, With Behavioral Abnormalities	Sandal gap, Bifid uvula, Umbilical hernia, Long philtrum, Joint hypermobility, Recurrent pneumoni...	OMIM:620330
Limb-Mammary Syndrome	Oligodactyly, Bifid uvula, Syndactyly, 3-4 finger cutaneous syndactyly, Absent lacrimal punctum, ...	ORPHA:69085
Micro Syndrome	Microphthalmia, Short philtrum, Scoliosis, High palate, Kyphosis, Joint stiffness	ORPHA:2510
Phace Association	Microphthalmia, Vascular dilatation, Aortic aneurysm, Optic nerve hypoplasia, Coarctation of aort...	OMIM:606519
Symphalangism, Proximal, 1A	Tarsal synostosis, Distal symphalangism of hands, Proximal symphalangism of hands, Metacarpophala...	OMIM:185800
Fanconi Anemia, Complementation Group L	Hypoplastic sacrum, Microphthalmia, Anemia, Esophageal atresia, Tracheoesophageal fistula, Anal a...	OMIM:614083
Buerger Disease	Vasculitis, Livedo reticularis, Acrocyanosis	ORPHA:36258
Reynolds Syndrome	Generalized abnormality of skin, Cirrhosis, Jaundice, Hepatomegaly, Keratoconjunctivitis sicca, G...	ORPHA:779
Synostoses, Tarsal, Carpal, And Digital	Tarsal synostosis, Short metacarpal, Radial head subluxation, Carpal synostosis, Metacarpophalang...	OMIM:186400
Myasthenic Syndrome, Congenital, 21, Presynaptic	Meconium ileus, Ptosis, Apnea, Knee flexion contracture, Cyanosis	OMIM:617239
Phosphoenolpyruvate Carboxykinase Deficiency, Cytosolic	Hepatomegaly, Apnea, Cyanosis, Hepatic steatosis, Increased hepatic echogenicity	OMIM:261680
Arachnodactyly-Abnormal Ossification-Intellectual Disability Syndrome	Arachnodactyly, Downslanted palpebral fissures, Delayed cranial suture closure, Shallow orbits	ORPHA:1129
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 8	Microphthalmia	OMIM:614830
Keutel Syndrome	Pulmonary artery stenosis, Recurrent sinusitis, Short distal phalanx of finger, Recurrent respira...	ORPHA:85202
Coffin-Siris Syndrome 12	Highly arched eyebrow, Ridged cranial sutures, Broad thumb, Joint hypermobility, Scoliosis, Paten...	OMIM:619325
Severe Growth Deficiency-Strabismus-Extensive Dermal Melanocytosis-Intellectual Disability Syndrome	Genu valgum, Dysphagia, Cyanosis	ORPHA:488627
Lowe Oculocerebrorenal Syndrome	Rickets, Joint contracture of the hand, Wrist swelling, Genu valgum, Platyspondyly, Microphthalmi...	OMIM:309000
Hennekam-Beemer Syndrome	Thick lower lip vermilion, Clinodactyly of the 5th finger, Scoliosis, Delayed cranial suture clos...	ORPHA:2135
Familial Dysautonomia	Gastroesophageal reflux, Abnormal peritoneum morphology, Scoliosis, Abnormal pleura morphology, A...	ORPHA:1764
Glycogen Storage Disease Ib	Xanthelasma, Hepatomegaly, Pancreatitis, Oral ulcer, Hepatocellular carcinoma, Osteoporosis, Infl...	OMIM:232220
Synpolydactyly 2	Polydactyly, Tarsal synostosis, Metacarpal synostosis, Toe syndactyly, Metatarsal synostosis, Car...	OMIM:608180
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome	Retrognathia, Pulmonic stenosis, Abnormal heart morphology, Dysphagia, Bicuspid aortic valve, Joi...	ORPHA:438213
Mitochondrial Complex Iv Deficiency, Nuclear Type 13	Tachypnea, Left ventricular noncompaction, Hypertrophic cardiomyopathy, Patent ductus arteriosus	OMIM:616501
Blepharophimosis, Ptosis, And Epicanthus Inversus	Microphthalmia, Telecanthus, Highly arched eyebrow, High palate, Ptosis, Epicanthus inversus, Nar...	OMIM:110100
Megabladder, Congenital	Left ventricular noncompaction cardiomyopathy, Patent ductus arteriosus, Bicuspid aortic valve, A...	OMIM:618719
Joubert Syndrome 9	Scoliosis, Hepatic fibrosis, Apnea, Episodic tachypnea	OMIM:612285
Congenital Heart Defects, Multiple Types, 4	Atrioventricular canal defect, Aortic valve stenosis, Coarctation of aorta, Tetralogy of Fallot, ...	OMIM:615779
Coronary Arterial Fistula	Atrial septal defect, Vascular dilatation, Cardiomegaly, Bacterial endocarditis, Patent foramen o...	ORPHA:2041
Microphthalmia, Isolated 8	Short palpebral fissure, Microphthalmia, True anophthalmia, Entropion, Anophthalmia, Optic nerve ...	OMIM:615113
Osteopetrosis With Renal Tubular Acidosis	Retrognathia, Pectus excavatum, Bone marrow hypocellularity, Enlarged tonsils, Leukopenia, Pancyt...	ORPHA:2785
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 12	Scoliosis, Microphthalmia, Flexion contracture, Abnormally large globe	OMIM:615249
Multiple Mitochondrial Dysfunctions Syndrome 7	Gingival overgrowth, Partial atrioventricular canal defect, Apnea, Thrombocytopenia, Open mouth, ...	OMIM:620423
Eosinophilic Fasciitis	Abnormal eosinophil morphology, Arthritis, Cellulitis, Acrocyanosis, Eosinophilia, Fasciitis	ORPHA:3165
Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia	Rickets, Reticulocytosis, Hepatosplenomegaly, Decreased mean corpuscular volume, Hemolytic anemia	OMIM:611590
Hypotonia, Infantile, With Psychomotor Retardation	Ventricular septal defect, Open mouth, Cryptorchidism	OMIM:616816
Pearson Syndrome	Steatorrhea, Cardiomyopathy, Reticulocytosis, Bone marrow hypocellularity, Abnormal heart morphol...	ORPHA:699
Microphthalmia, Syndromic 16	Microphthalmia, Anophthalmia, Ankyloblepharon	OMIM:611038
Congenitally Corrected Transposition Of The Great Arteries	Mesocardia, Pulmonic stenosis, Discordant atrioventricular connection, Abnormal heart morphology,...	ORPHA:216694
Necrotizing Encephalomyelopathy, Subacute, Of Leigh, Adult	Gastric hypertrophy, Proximal phalangeal periosteal thickening, Osteolytic defects of the phalang...	OMIM:161700
Retinal Degeneration With Nanophthalmos, Cystic Macular Degeneration, And Angle Closure Glaucoma	Microphthalmia	OMIM:267760
Humero-Radial Synostosis	Abnormality of the wrist, Tarsal synostosis, Aplasia/Hypoplasia of the thumb, Limitation of joint...	ORPHA:3265
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome	Decreased response to growth hormone stimulation test, Recurrent lower respiratory tract infectio...	ORPHA:293987
Thiamine-Responsive Megaloblastic Anemia Syndrome	Situs inversus totalis, Gastroesophageal reflux, Stroke, Cardiomyopathy, Cryptorchidism, Siderobl...	OMIM:249270
Nance-Horan Syndrome	Broad finger, Supernumerary maxillary incisor, Microphthalmia, Screwdriver-shaped incisors, Short...	OMIM:302350
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 1	Camptodactyly of finger, Tachypnea, Talipes equinovarus	OMIM:604320
Martinez-Frias Syndrome	Annular pancreas, Hypoplasia of the gallbladder, Intestinal hypoplasia, Pancreatic hypoplasia, Tr...	OMIM:601346
Galloway-Mowat Syndrome 1	Microphthalmia, High palate, Camptodactyly, Slender finger, Hypoplasia of the iris, Ptosis, Wide ...	OMIM:251300
Walker-Warburg Syndrome	Microphthalmia, Anophthalmia, Bifid uvula, Cleft palate, Metatarsus valgus, Submucous cleft hard ...	ORPHA:899
Traboulsi Syndrome	Short finger, Microphthalmia, Cubitus valgus, High palate, Arachnodactyly, Downslanted palpebral ...	OMIM:601552
Holoprosencephaly 2	Microphthalmia, Solitary median maxillary central incisor, Bilateral cleft palate, Scoliosis, Med...	OMIM:157170
Microphthalmia/Coloboma 9	Long philtrum, Ptosis, Narrow palpebral fissure, Microphthalmia	OMIM:615145
Split Lower Lip	Abnormal lower lip morphology, Lower lip pit, Abnormality of the dentition, Narrow maxilla	OMIM:183400
Respiratory Distress Syndrome In Premature Infants	Pulmonary edema, Tachypnea, Atelectasis, Respiratory distress	OMIM:267450
Neuropathy, Hereditary Sensory And Autonomic, Type Vi	Erythema, Gastroesophageal reflux, High palate, Corneal scarring, Hand clenching, Apnea, Flexion ...	OMIM:614653
Primary Non-Essential Cutis Verticis Gyrata	Scoliosis, Atrial septal defect, Ventricular septal defect, Keloids	ORPHA:357225
Cockayne Syndrome B	Square pelvis bone, Hepatomegaly, Loss of facial adipose tissue, Microphthalmia, Death in childho...	OMIM:133540
Lethal Congenital Contracture Syndrome 5	Thin ribs, Death in infancy, Congenital contracture, Flexion contracture, Subdural hemorrhage	OMIM:615368
Rabson-Mendenhall Syndrome	Polydactyly, Premature graying of hair, Advanced eruption of teeth, Dental crowding, Mandibular p...	ORPHA:769
Fraser Syndrome 2	Microphthalmia, Rectal atresia, Narrow mouth, Hypoplasia of the thymus, Anal atresia, Intestinal ...	OMIM:617666
Mitchell-Riley Syndrome	Annular pancreas, Biliary atresia, Meckel diverticulum, Pancreatic hypoplasia, Cholestasis, Intes...	OMIM:615710
Combined Oxidative Phosphorylation Defect Type 23	Hypertrophic cardiomyopathy, Cyanosis, Right ventricular hypertrophy, Left ventricular hypertrophy	ORPHA:444013
Hypoadrenocorticism, Familial	Apnea, Cyanosis	OMIM:240200
Mitochondrial Complex I Deficiency, Nuclear Type 1	Hepatomegaly, Concentric hypertrophic cardiomyopathy, Hypertrophic cardiomyopathy, Death in infan...	OMIM:252010
Axenfeld-Rieger Syndrome, Type 1	Decreased response to growth hormone stimulation test, Anal stenosis, Short philtrum, Oligodontia...	OMIM:180500
Bile Acid Conjugation Defect 1	Rickets, Jaundice, Hepatomegaly	OMIM:619232
Paternal Uniparental Disomy Of Chromosome 6	Retrognathia, Hepatomegaly, Cardiomegaly, Gingival overgrowth, High palate, Shallow orbits, Crypt...	ORPHA:96191
Dent Disease	Rickets, Delayed epiphyseal ossification, Enlargement of the wrists, Enlargement of the ankles, E...	ORPHA:1652
Congenital Bile Acid Synthesis Defect Type 2	Rickets, Steatorrhea, Jaundice, Giant cell hepatitis, Hepatomegaly, Cholestasis, Prolonged neonat...	ORPHA:79303
Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency	Ankle flexion contracture, Bilateral microphthalmos, Abnormality of the orbital region, Knee flex...	ORPHA:468631
Phace Syndrome	Abnormal carotid artery morphology, Microphthalmia, Abnormality of the orbital region, Aortic roo...	ORPHA:42775
Celiac Disease, Susceptibility To, 1	Rickets, Steatorrhea, Recurrent aphthous stomatitis, Macrocytic anemia, Thrombocytosis, Stomatiti...	OMIM:212750
Ethylene Glycol Poisoning	Pulmonary edema, Cyanosis, Gastritis, Tachypnea, Episodic respiratory distress	ORPHA:31826
Mitochondrial Complex Iii Deficiency, Nuclear Type 8	Ptosis, Tachypnea, Death in childhood, Anemia	OMIM:615838
Syndromic Diarrhea	Abnormal heart morphology, Splenomegaly, Lymphopenia, Bicuspid aortic valve, Inguinal hernia, Inc...	ORPHA:84064
Carnitine-Acylcarnitine Translocase Deficiency	Hepatomegaly, Cardiomyopathy, Sudden episodic apnea, Cyanosis	ORPHA:159
Noonan Syndrome 9	Cryptorchidism, Pulmonic stenosis, Ptosis, Downslanted palpebral fissures, Sparse eyebrow, Coarct...	OMIM:616559
Transposition Of The Great Arteries, Dextro-Looped	Transposition of the great arteries	OMIM:608808
Duodenal Atresia	Abnormality of the pulmonary artery, Annular pancreas, Abnormality of the pancreas, Duodenal atresia	ORPHA:1203
Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities	Dysphagia, Joint hypermobility, Short 5th finger, Short finger, Abnormality of the palmar creases...	OMIM:619522
Diets-Jongmans Syndrome	Congenital diaphragmatic hernia, Inguinal hernia, Duodenal atresia, Cryptorchidism, Umbilical her...	OMIM:618846
Microcephaly-Lymphedema-Chorioretinopathy Syndrome	Microphthalmia, Panniculitis, Anophthalmia, Abnormal eyelid morphology, Abnormal nasolacrimal sys...	ORPHA:2526
Intellectual Disability-Hypotonic Facies Syndrome, X-Linked, 1	Kyphoscoliosis, Radial deviation of finger, Hypoplastic philtrum, Wide mouth, Talipes calcaneoval...	OMIM:309580
Microcephaly And Chorioretinopathy, Autosomal Recessive, 1	Microphthalmia	OMIM:251270
Intellectual Developmental Disorder, X-Linked 112	Kyphoscoliosis, Bicuspid aortic valve, Madelung deformity, Gastroesophageal reflux, Right aortic ...	OMIM:301111
Bosma Arhinia Microphthalmia Syndrome	Microphthalmia, Dental malocclusion, Inguinal hernia, Lacrimal duct atresia, High palate, Synophr...	OMIM:603457
Fanconi Anemia, Complementation Group E	Microphthalmia, Anemia, Pancytopenia, Reticulocytopenia, Complete duplication of thumb phalanx, A...	OMIM:600901
Tracheal Agenesis	Aplasia/Hypoplasia of the lungs, Abnormal cardiac septum morphology	ORPHA:3346
Intrinsic Factor Deficiency	Increased mean corpuscular volume, Megaloblastic anemia, Megaloblastic erythroid hyperplasia, Abs...	OMIM:261000
Arima Syndrome	Cirrhosis, Hepatomegaly, Anemia, Esophageal varix, Postaxial hand polydactyly, Tachypnea, Ptosis,...	OMIM:243910
Tetanus	Stiff neck, Respiratory distress, Dysphagia, Trismus, Tachypnea	ORPHA:3299
Hypercholanemia, Familial 1	Rickets, Steatorrhea, Fat malabsorption	OMIM:607748
Laryngotracheoesophageal Cleft	Recurrent respiratory infections, Impaired oropharyngeal swallow response, Cyanosis	ORPHA:2004
Dermatomyositis	Gastrointestinal stroma tumor, Pericarditis, Shawl sign, Dysphagia, Palmar hyperkeratosis, Cellul...	ORPHA:221
Hyposmia-Nasal And Ocular Hypoplasia-Hypogonadotropic Hypogonadism Syndrome	Microphthalmia, Inguinal hernia, Tooth malposition, Anophthalmia, Failure of eruption of permanen...	ORPHA:2250
Oculo-Palato-Cerebral Syndrome	High, narrow palate, Microphthalmia, Cleft palate, Joint hypermobility, Short foot, Small hand	ORPHA:2714
Developmental And Epileptic Encephalopathy 1	Microphthalmia	OMIM:308350
Multiple Synostoses Syndrome 4	Tarsal synostosis, Otosclerosis, Broad foot, Brachydactyly, Overlapping toe, Pes planus	OMIM:617898
Microphthalmia, Syndromic 5	Microphthalmia, Anophthalmia, Optic nerve hypoplasia, Cleft palate, Joint hypermobility	OMIM:610125
Myasthenia Gravis	Rheumatoid arthritis, Pure red cell aplasia, Ptosis, Dysphagia, Abnormal thymus morphology, Acroc...	ORPHA:589
Oculotrichoanal Syndrome	Microphthalmia, Anal stenosis, Upper eyelid coloboma, Anophthalmia, Cryptophthalmos, Anteriorly p...	ORPHA:2717
Axial Osteomalacia	Increased bone mineral density, Osteomalacia, Polycystic liver disease	OMIM:109130
Atrial Septal Defect 2	Atrioventricular canal defect, Dextrocardia, Pulmonic stenosis, Patent ductus arteriosus, Atrial ...	OMIM:607941
Fanconi Anemia, Complementation Group A	Microphthalmia, Anemia, Pancytopenia, Reticulocytopenia, Complete duplication of thumb phalanx, A...	OMIM:227650
Aicardi-Goutières Syndrome	Calcification of the aorta, Moyamoya phenomenon, Lipoatrophy, Panniculitis, Chronic lymphatic leu...	ORPHA:51
Citrullinemia Type I	Tachypnea, Gastroesophageal reflux, Ankle clonus	ORPHA:247525
Cockayne Syndrome Type 3	Microphthalmia, Hepatomegaly, Premature coronary artery atherosclerosis, Aortic root aneurysm, Sc...	ORPHA:90324
Encephalopathy, Acute, Infection-Induced, Susceptibility To, 9	Death in childhood, Recurrent lower respiratory tract infections, Gastroesophageal reflux, Respir...	OMIM:618426
Linear Skin Defects With Multiple Congenital Anomalies 1	Congenital diaphragmatic hernia, Microphthalmia, Histiocytoid cardiomyopathy, Anal atresia, Cleft...	OMIM:309801
Tarsal-Carpal Coalition Syndrome	Tarsal synostosis, Abnormality of the ankle	ORPHA:1412
Lissencephaly 8	Microphthalmia	OMIM:617255
Ciliary Dyskinesia, Primary, 20	Situs inversus totalis, Dextrocardia, Aortic valve stenosis, Pulmonary artery stenosis, Persisten...	OMIM:615067
Congenital Disorder Of Glycosylation, Type It	Hepatomegaly, Intrahepatic cholestasis, Increased hepatic glycogen content, Hepatitis, Chronic he...	OMIM:614921
Left Ventricular Noncompaction 1	Patent ductus arteriosus, Noncompaction cardiomyopathy, Ventricular septal defect, Left ventricul...	OMIM:604169
Joubert Syndrome 2	Abnormal foot morphology, High palate, Postaxial hand polydactyly, Episodic tachypnea, Metopic sy...	OMIM:608091
Trichothiodystrophy 1, Photosensitive	Intestinal obstruction, Microphthalmia, Triangular mouth, Death in infancy, Absence of subcutaneo...	OMIM:601675
Kenny-Caffey Syndrome, Type 2	Microphthalmia, Anemia, Abnormality of the medullary cavity of the long bones, Increased bone min...	OMIM:127000
Autosomal Dominant Kenny-Caffey Syndrome	Bilateral microphthalmos, Anemia, Calvarial osteosclerosis, Delayed cranial suture closure, Decre...	ORPHA:93325
Telangiectasia, Hereditary Hemorrhagic, Type 4	Tongue telangiectasia, Ischemic stroke, Spinal arteriovenous malformation, Lip telangiectasia, Di...	OMIM:610655
Fanconi-Bickel Syndrome	Rickets, Osteopenia, Hepatomegaly, Increased hepatic glycogen content, Hepatocellular carcinoma, ...	ORPHA:2088
Townes-Brocks Syndrome 1	Clinodactyly of the 5th toe, Tracheoesophageal fistula, Broad thumb, Umbilical hernia, Aplasia/Hy...	OMIM:107480
Congenital Heart Defects, Multiple Types, 2	Myxomatous mitral valve degeneration, Aortic aneurysm, Aortic valve stenosis, Tetralogy of Fallot...	OMIM:614980
Renal Tubular Dysgenesis	Widely patent fontanelles and sutures, Pulmonary hypoplasia	OMIM:267430
Craniometadiaphyseal Osteosclerosis With Hip Dysplasia	Patent ductus arteriosus, Flared metaphysis, Increased bone mineral density, Sandwich appearance ...	OMIM:620558
Deafness, Congenital Heart Defects, And Posterior Embryotoxon	Peripheral pulmonary artery stenosis, Ventricular septal defect, Tetralogy of Fallot	OMIM:617992
Ventricular Septal Defect 3	Pulmonary artery stenosis, Atrial septal defect, Ventricular septal defect, Patent ductus arteriosus	OMIM:614432
Holoprosencephaly 12 With Or Without Pancreatic Agenesis	Long philtrum, Hitchhiker thumb, High palate, Pancreatic aplasia, Neonatal death, Exocrine pancre...	OMIM:618500
Neurodevelopmental Disorder With Dysmorphic Facies And Cerebellar Hypoplasia	Accessory spleen, Exaggerated cupid's bow, Flexion contracture, Smooth philtrum, Long philtrum, V...	OMIM:619306
Chiari Malformation Type Ii	Cyanosis, Dysphagia	OMIM:207950
Fanconi Renotubular Syndrome 3	Rickets, Bowing of the legs	OMIM:615605
Umbilical Cord Ulceration-Intestinal Atresia Syndrome	Anemia, Abnormal tricuspid valve morphology, Abnormal aortic morphology, Intestinal atresia, Vent...	ORPHA:3405
Liver Disease, Severe Congenital	Left atrial enlargement, Lymphocytosis, Biliary hyperplasia, Leukopenia, Splenomegaly, Umbilical ...	OMIM:619991
Mitochondrial Complex Iii Deficiency, Nuclear Type 5	Atrial septal defect, Episodic tachypnea	OMIM:615160
Idiopathic Neonatal Atrial Flutter	Tachypnea, Respiratory distress	ORPHA:45452
Cardiac Valvular Dysplasia 2	Central cyanosis, Ascending tubular aorta aneurysm, Dysplastic aortic valve, Pulmonic stenosis, B...	OMIM:620067
Hypothyroidism Due To Deficient Transcription Factors Involved In Pituitary Development Or Function	Short finger, Optic nerve hypoplasia, Delayed cranial suture closure, Delayed proximal femoral ep...	ORPHA:226307
Encephalopathy, Ethylmalonic	Petechiae, Acrocyanosis, Death in infancy	OMIM:602473
Aorta Coarctation	Perimembranous ventricular septal defect, Cardiomegaly, Hypoplastic aortic arch, Aortic valve atr...	ORPHA:1457
Mitochondrial Complex Iv Deficiency, Nuclear Type 5	Pulmonary edema, Inguinal hernia, Aortic valve atresia, Highly arched eyebrow, Microvesicular hep...	OMIM:220111
Ciliary Dyskinesia, Primary, 30	Situs inversus totalis, Dextrocardia, Bronchiectasis, Recurrent respiratory infections, Ventricul...	OMIM:616037
Atrial Septal Defect, Coronary Sinus Type	Cyanosis, Stroke, Transient ischemic attack, Anomalous origin of the left common carotid artery f...	ORPHA:99104
Neurocardiofaciodigital Syndrome	Polydactyly, Thin vermilion border, Narrow palpebral fissure, Double inlet left ventricle, High p...	OMIM:619869
Developmental Delay, Impaired Speech, And Behavioral Abnormalities	Palpebral edema, Kyphosis, Broad philtrum, Bicuspid aortic valve, Joint hypermobility, Hepatic st...	OMIM:619475
Hypophosphatemic Rickets And Hyperparathyroidism	Rickets, Rachitic rosary, Hypophosphatemic rickets	OMIM:612089
Cholera	Stroke, Miscarriage, Aspiration pneumonia, Achlorhydria, Tachypnea, Palmoplantar cutis laxa	ORPHA:173
Postinfectious Vasculitis	Gastrointestinal inflammation, Ischemic stroke, Palpable purpura, Vascular dilatation, Arthritis,...	ORPHA:48435
Fanconi Renotubular Syndrome 2	Osteopenia, Rickets, Recurrent fractures, Osteomalacia	OMIM:613388
Mesomelic Dysplasia, Kantaputra Type	Tarsal synostosis, Mesomelia, Carpal synostosis, Radial bowing	OMIM:156232
Isotretinoin Embryopathy-Like Syndrome	Cleft palate, Conotruncal defect	OMIM:243440
Igg4-Related Submandibular Gland Disease	Enlarged lacrimal glands, Abnormal salivary gland morphology, Cholangitis, Abnormal pancreas morp...	ORPHA:449432
Cockayne Syndrome	Microphthalmia, Hepatomegaly, Keratoconjunctivitis sicca, Scoliosis, Vascular calcification, Kyph...	ORPHA:191
Pearson Marrow-Pancreas Syndrome	Steatorrhea, Hepatomegaly, Refractory sideroblastic anemia, Anemia, Villous atrophy, Pancytopenia...	OMIM:557000
Igg4-Related Thyroid Disease	Euthyroid goiter, Sclerosing cholangitis, Sialadenitis, Abnormality of the ocular adnexa, Abnorma...	ORPHA:64744
Oculogastrointestinal Muscular Dystrophy	Abnormality of the gastrointestinal tract, Intestinal pseudo-obstruction, Abnormal gastric mucosa...	ORPHA:1876
Intellectual Developmental Disorder With Microcephaly And With Or Without Ocular Malformations Or Hypogonadotropic Hypogonadism	Short palpebral fissure, Decreased response to growth hormone stimulation test, Short philtrum, D...	OMIM:615866
Linear Skin Defects With Multiple Congenital Anomalies 3	Microphthalmia, Histiocytoid cardiomyopathy, Lacrimal duct atresia, Dilated cardiomyopathy, Delay...	OMIM:300952
Isolated Thyroid-Stimulating Hormone Deficiency	Delayed cranial suture closure, Delayed proximal femoral epiphyseal ossification, Prolonged neona...	ORPHA:90674
Diamond-Blackfan Anemia 12	Elevated red cell adenosine deaminase activity, Triphalangeal thumb, Normochromic anemia, Macrocy...	OMIM:615550
Pancreatic Agenesis-Holoprosencephaly Syndrome	Solitary median maxillary central incisor, High palate, Pancreatic aplasia, Hypoxemia, Aplasia/Hy...	ORPHA:556955
Warburg Micro Syndrome 2	Clinodactyly of the 5th toe, Microphthalmia, Clinodactyly of the 4th toe, Flexion contracture, Ov...	OMIM:614225
Renal Tubular Acidosis, Proximal	Rickets, Osteomalacia	OMIM:179830
Neuropathy, Hereditary Sensory And Autonomic, Type Iii	Neuropathic arthropathy, Gastroesophageal reflux, Scoliosis, Acrocyanosis, Recurrent infections d...	OMIM:223900
Seckel Syndrome 9	Congenital diaphragmatic hernia, Recurrent respiratory infections, Pulmonary artery hypoplasia, M...	OMIM:616777
Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase	Polycythemia, Cyanosis, Methemoglobinemia	OMIM:250800
Rh Deficiency Syndrome	Jaundice, Macrocytic anemia, Miscarriage, Hypochromia, Spherocytosis, Reticulocytosis, Hypoxemia,...	ORPHA:71275
Chromosome 17P13.3, Telomeric, Duplication Syndrome	Finger symphalangism, Contracture of the proximal interphalangeal joint of the 4th finger, Absent...	OMIM:612576
3-Hydroxy-3-Methylglutaric Aciduria	Jaundice, Anemia, Hepatomegaly, Acute pancreatitis, Leukocytosis, Tachypnea, Apnea, Leukopenia, D...	ORPHA:20
Diphallia	Butterfly vertebrae, Abnormality of the gastrointestinal tract, Inguinal hernia, Scoliosis, Hemiv...	ORPHA:227
Mitochondrial Phosphate Carrier Deficiency	Cyanosis, Hypertrophic cardiomyopathy	OMIM:610773
Cryptophthalmos, Unilateral Or Bilateral, Isolated	Cryptophthalmos, Microphthalmia, Ankyloblepharon	OMIM:123570
Obesity-Hypoventilation Syndrome	Cyanosis	OMIM:257500
Holocarboxylase Synthetase Deficiency	Respiratory distress, Tachypnea, Thrombocytopenia, Keratoconjunctivitis	ORPHA:79242
Methionine Malabsorption Syndrome	Tachypnea	OMIM:250900
Microphthalmia With Linear Skin Defects Syndrome	Congenital diaphragmatic hernia, Tricuspid valve prolapse, Sacral dimple, Microphthalmia, Anophth...	ORPHA:2556
Immunodeficiency 82 With Systemic Inflammation	Duodenal ulcer, Villous atrophy, Anemia, Lymphadenopathy, Gastritis, Anoperineal fistula, Oral ul...	OMIM:619381
Unilateral Polymicrogyria	Stroke, Apnea, Abnormal heart morphology, Pulmonary arteriovenous malformation, Cyanosis, Pseudob...	ORPHA:268943
Car T Cell Therapy-Associated Cytokine Release Syndrome	Hypoxemia, Pulmonary edema, Tachypnea, Pleural effusion	ORPHA:542323
Tooth Agenesis, Selective, X-Linked, 1	Agenesis of premolar, Agenesis of molar, Aplasia of the maxilla, Oligodontia, Selective tooth age...	OMIM:313500
Aural Atresia, Multiple Congenital Anomalies, And Mental Retardation	Ventricular septal defect, Talipes equinovarus	OMIM:209770
Dihydropyrimidinase Deficiency	Talipes equinovarus, Short phalanx of finger, Anal atresia	OMIM:222748
Hypermetabolism Due To Uncoupled Mitochondrial Oxidative Phosphorylation 2	Tachypnea	OMIM:620085
15Q11.2 Microdeletion Syndrome	Abnormal palate morphology, Total anomalous pulmonary venous return, Coarctation of aorta, Abnorm...	ORPHA:261183
Renal Tubular Acidosis, Distal, 3, With Or Without Sensorineural Hearing Loss	Rickets	OMIM:602722
Aceruloplasminemia	Hypochromic microcytic anemia, Abnormal pancreas morphology, Blepharospasm, Elevated hepatic iron...	ORPHA:48818
Intellectual Developmental Disorder, Autosomal Recessive 71	Cryptorchidism, Ventricular septal defect, Prune belly, Increased overbite	OMIM:618504
46,Xx Difference Of Sex Development-Skeletal Anomalies Syndrome	Dislocated radial head, Mandibular condyle hypoplasia, Deformed humerus, Micrognathia, Hypoplasia...	ORPHA:2975
Renal Tubular Acidosis Iii	Rickets, Osteomalacia	OMIM:267200
Holoprosencephaly 1	Tessier cleft, Microphthalmia, Median cleft palate, Median cleft upper lip, Single ventricle	OMIM:236100
Congenital Disorder Of Glycosylation, Type Iq	Microphthalmia, Microcytic anemia	OMIM:612379
Microphthalmia-Brain Atrophy Syndrome	Bilateral microphthalmos	ORPHA:77299
Campomelia, Cumming Type	Pancreatic cysts, Bowing of the long bones, Polysplenia, Polycystic liver disease	OMIM:211890
Methemoglobinemia And Ambiguous Genitalia	Cyanosis, Elevated circulating luteinizing hormone level, Methemoglobinemia	OMIM:250790
Linear Nevus Sebaceus Syndrome	Genu recurvatum, Microphthalmia, Vertebral segmentation defect, Telecanthus	ORPHA:2612
Brain-Lung-Thyroid Syndrome	Abnormal pulmonary interstitial morphology, Hypoparathyroidism, Recurrent respiratory infections,...	ORPHA:209905
Pancreas, Annular	High intestinal obstruction, Annular pancreas, Duodenal stenosis	OMIM:167750
Annular Pancreas	High intestinal obstruction, Annular pancreas, Duodenal stenosis	ORPHA:675
Brachydactyly-Ectrodactyly With Fibular Aplasia Or Hypoplasia	Fibular aplasia, Split foot, Short phalanx of finger, Brachydactyly, Aplasia/Hypoplasia of the fi...	OMIM:113310
Cocaine Intoxication	Pneumothorax, Ischemic stroke, Pulmonary edema, Gastrointestinal infarctions, Respiratory distres...	ORPHA:90068
Rodrigues Blindness	Microphthalmia, Tooth malposition	OMIM:268320
Johanson-Blizzard Syndrome	Hypoplasia of the primary teeth, Conjunctival icterus, Agenesis of permanent teeth, Splenomegaly,...	OMIM:243800
Ectodermal Dysplasia-Blindness Syndrome	Microphthalmia, Abnormality of the dentition, Keratoconjunctivitis sicca	ORPHA:1806
Acquired Purpura Fulminans	Macular purpura, Thrombocytopenia, Intracranial hemorrhage, Acrocyanosis	ORPHA:49566
Cystinosis	Rickets, Portal hypertension	ORPHA:213
Monosomy 13Q14	Microphthalmia, Clinodactyly of the 5th finger, Aplasia/Hypoplasia of the thumb, Finger syndactyl...	ORPHA:1587
Long-Olsen-Distelmaier Syndrome	Death in childhood, Downslanted palpebral fissures, Secundum atrial septal defect, Cardiomegaly, ...	OMIM:620609
Methimazole Embryofetopathy	Esophageal atresia, Abnormal aortic morphology, Tracheoesophageal fistula, Coarctation of aorta, ...	ORPHA:1923
Epidermolysis Bullosa, Junctional 6, With Pyloric Atresia	Esophageal stenosis, Neonatal death, Oral mucosal blisters, Congenital pyloric atresia	OMIM:619817
Neonatal Acute Respiratory Distress Due To Sp-B Deficiency	Spontaneous neonatal pneumothorax, Abnormal pulmonary interstitial morphology, Intraalveolar phos...	ORPHA:217563
Vitreoretinochoroidopathy	Retinal arteriolar occlusion, Microphthalmia, Retinal arteriolar constriction	OMIM:193220
Hydrops, Lactic Acidosis, And Sideroblastic Anemia	Anemia, Patent ductus arteriosus, Increased mean corpuscular volume, Ventricular septal defect, S...	OMIM:617021
Short Stature, Developmental Delay, And Congenital Heart Defects	Atrial septal defect, Patent foramen ovale, Ventricular septal defect, Patent ductus arteriosus	OMIM:617044
Microphthalmia, Syndromic 6	Polydactyly, Microphthalmia, Lambdoidal craniosynostosis, Clinodactyly of the 5th finger, Anophth...	OMIM:607932
Pancreatitis, Hereditary	Pancreatic pseudocyst, Steatorrhea, Pancreatitis, Pleural effusion, Exocrine pancreatic insuffici...	OMIM:167800
Cutis Laxa, Autosomal Dominant 1	Emphysema, Inguinal hernia, Prematurely aged appearance, Bronchiectasis, Uterine prolapse, Long p...	OMIM:123700
Arrhythmogenic Cardiomyopathy With Variable Ectodermal Abnormalities	Palmoplantar keratoderma, Patent foramen ovale, Notched primary central incisor, Right atrial enl...	OMIM:620519
Ethylmalonic Encephalopathy	Petechiae, Acrocyanosis	ORPHA:51188
Developmental And Epileptic Encephalopathy 29	Rocker bottom foot, Blepharospasm, Hip dislocation	OMIM:616339
Fixed Subaortic Stenosis	Atrioventricular canal defect, Cardiomegaly, Patent ductus arteriosus, Bacterial endocarditis, As...	ORPHA:3092
Senior-Loken Syndrome 8	Polydactyly, Vascular dilatation, Intrahepatic bile duct dilatation, Hepatic cysts, Pancreatic cysts	OMIM:616307
Pancreatic Triacylglycerol Lipase Deficiency	Rickets, Steatorrhea, Iron deficiency anemia, Osteoporosis, Exocrine pancreatic insufficiency, Os...	ORPHA:309031
Atrial Septal Defect, Ostium Secundum Type	Stroke, Transient ischemic attack, Right atrial enlargement, Abnormal mitral valve morphology, Pn...	ORPHA:99103
Primary Hyperoxaluria	Rootless teeth, Cardiomyopathy, Abnormality of the dentition, Cutis marmorata, Acrocyanosis, Gene...	ORPHA:416
Oculopalatocerebral Syndrome	Microphthalmia, Cleft palate	OMIM:257910
Lethal Congenital Contracture Syndrome 2	Dilated cardiomyopathy, Arthrogryposis multiplex congenita, Ventricular septal defect, Micrognathia	OMIM:607598
Distichiasis With Congenital Anomalies Of The Heart And Peripheral Vasculature	Distichiasis, Peripheral arterial stenosis, Patent ductus arteriosus, Varicose veins, Ventricular...	OMIM:126320
Papillorenal Syndrome	Joint hypermobility, Orbital cyst, Scoliosis, Microphthalmia	OMIM:120330
Hypocalciuric Hypercalcemia, Familial, Type Iii	Peptic ulcer, Pancreatitis, Osteomalacia, Multiple lipomas, Chondrocalcinosis	OMIM:600740
Renal Tubular Acidosis, Distal, 1	Pathologic fracture, Osteomalacia	OMIM:179800
Fanconi Renotubular Syndrome 1	Rickets, Osteomalacia	OMIM:134600
Xeroderma Pigmentosum, Complementation Group D	Ectropion, Microphthalmia, Entropion, Conjunctivitis, Keratoconjunctivitis sicca	OMIM:278730
Wilson Disease	Cirrhosis, Jaundice, Portal fibrosis, Hepatomegaly, Anemia, Osteomalacia, Hepatocellular carcinom...	OMIM:277900
Developmental Delay With Or Without Intellectual Impairment Or Behavioral Abnormalities	High, narrow palate, Short philtrum, Recurrent respiratory infections, Hematochezia, Joint hyperm...	OMIM:619575
Anterior Segment Dysgenesis 5	Rieger anomaly, Microphthalmia, Hypoplasia of the fovea, Hypoplasia of the iris	OMIM:604229
Familial Exudative Vitreoretinopathy	Microphthalmia, Reduced bone mineral density	ORPHA:891
Oculoauricular Syndrome	Short mandibular rami, Microphakia, Microphthalmia, Spina bifida occulta, Phthisis bulbi, Macular...	OMIM:612109
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7	Microphthalmia, Death in childhood, Optic nerve hypoplasia, Death in infancy, Adducted thumb	OMIM:614643
Biotinidase Deficiency	Hepatomegaly, Apnea, Splenomegaly, Conjunctivitis, Tachypnea	OMIM:253260
Colobomatous Microphthalmia-Obesity-Hypogenitalism-Intellectual Disability Syndrome	Microphthalmia	ORPHA:363741
Coloboma-Obesity-Hypogenitalism-Mental Retardation Syndrome	Microphthalmia	OMIM:601794
Cleft Larynx, Posterior	Cyanosis	OMIM:215800
Congenital Gerbode Defect	Ankle swelling, Perimembranous ventricular septal defect, Vascular dilatation, Abnormal tricuspid...	ORPHA:99095
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
Fanconi-Bickel Syndrome	Rickets, Intrahepatic cholestasis, Hepatomegaly, Reduced subcutaneous adipose tissue, Osteomalacia	OMIM:227810
Early Infantile Epileptic Encephalopathy	Broad finger, Short finger, Broad phalanx of the toes, Cleft palate, Umbilical hernia, Ventricula...	ORPHA:1934
Transketolase Deficiency	Hepatomegaly, Patent ductus arteriosus, Patent foramen ovale, Abnormal coronary artery course, Ab...	ORPHA:488618
Optic Disc Anomalies With Retinal And/Or Macular Dystrophy	Buphthalmos, Microphthalmia, Corneal scarring	OMIM:212550
Metachromatic Leukodystrophy	Abnormal stomach morphology, Hemobilia, Abnormal duodenum morphology, Neoplasm of the gallbladder...	ORPHA:512
Pituitary Hormone Deficiency, Combined Or Isolated, 1	Prolonged neonatal jaundice, Delayed cranial suture closure, Macroglossia, Jaundice	OMIM:613038
Combined Oxidative Phosphorylation Deficiency 15	Ventricular septal hypertrophy, Inguinal hernia, Single transverse palmar crease, Ventricular sep...	OMIM:614947
46,Xx Sex Reversal 5	Aplasia of the left hemidiaphragm, Secundum atrial septal defect, Ventricular septal defect, Hypo...	OMIM:618901
N-Acetylglutamate Synthase Deficiency	Tachypnea, Respiratory distress	OMIM:237310
Autosomal Dominant Keratitis	Bilateral microphthalmos, Aniridia, Hypoplastic iris stroma, Hypoplasia of the fovea, Macular hyp...	ORPHA:2334
Antley-Bixler Syndrome With Genital Anomalies And Disordered Steroidogenesis	Rocker bottom foot, Tarsal synostosis, Ulnar bowing, Scoliosis, Femoral bowing, Hemivertebrae, Ca...	OMIM:201750
Intellectual Developmental Disorder With Hypotonia And Behavioral Abnormalities	Patent foramen ovale, Rectoperineal fistula, Cryptorchidism, Ptosis, Coarctation of aorta, Tetral...	OMIM:618748
Rod-Cone Dystrophy, Sensorineural Deafness, And Fanconi-Type Renal Dysfunction	Rickets, Recurrent fractures	OMIM:268315
Medulloblastoma	Back pain, Cerebellar hemorrhage, Delayed cranial suture closure, Adenomatous colonic polyposis	ORPHA:616
Cystinosis, Nephropathic	Rickets, Genu valgum, Hepatomegaly, Hypophosphatemic rickets, Rachitic rosary, Metaphyseal wideni...	OMIM:219800
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young	Rickets, Hepatomegaly	OMIM:616026
Beta-Ketothiolase Deficiency	Tachypnea, Thrombocytosis, Leukocytosis, Hepatomegaly	ORPHA:134
Fructose-1,6-Bisphosphatase Deficiency	Hepatomegaly, Respiratory distress, Apneic episodes in infancy, Hepatic steatosis, Episodic tachy...	ORPHA:348
Ventriculomegaly With Cystic Kidney Disease	Postaxial polydactyly, Ventricular septal defect, Vascular dilatation	OMIM:219730
Cardiogenic Shock	Hypoxemia, Hepatomegaly, Cyanosis	ORPHA:97292
Nk-Cell Enteropathy	Duodenal ulcer, Gastroesophageal reflux, Increased T cell count, Abnormal gastric mucosa morpholo...	ORPHA:263665
Exudative Vitreoretinopathy 2, X-Linked	Microphthalmia	OMIM:305390
Microcephaly 20, Primary, Autosomal Recessive	Optic nerve hypoplasia, Microphthalmia	OMIM:617914
Junctional Epidermolysis Bullosa With Pyloric Atresia	Ectropion, Pterygium, Congenital pyloric atresia, Enamel hypoplasia, Intestinal atresia, Oral muc...	ORPHA:79403
Succinyl-Coa:3-Oxoacid-Coa Transferase Deficiency	Tachypnea	OMIM:245050
Congenital Primary Aphakia	Microphthalmia, Aniridia, Aplasia/Hypoplasia affecting the anterior segment of the eye, Congenita...	ORPHA:83461
Cornea Plana 2, Autosomal Recessive	Microphthalmia	OMIM:217300
Microphthalmia, Isolated, With Corectopia	Microphthalmia	OMIM:156900
Neurodevelopmental Disorder With Seizures, Microcephaly, And Brain Abnormalities	Coronary artery fistula, Cryptorchidism, Neonatal death, Patent ductus arteriosus, Metopic synost...	OMIM:620024
Anterior Segment Dysgenesis 7	Buphthalmos, Microphthalmia	OMIM:269400
Permanent Neonatal Diabetes Mellitus-Pancreatic And Cerebellar Agenesis Syndrome	Aplasia/Hypoplasia of the pancreas	ORPHA:65288
Goodpasture Syndrome	Cyanosis, Anemia, Reticular pattern on pulmonary HRCT, Hemosiderin-laden macrophages in bronchoal...	OMIM:233450
Surfactant Metabolism Dysfunction, Pulmonary, 4	Tachypnea, Intraalveolar phospholipid accumulation	OMIM:300770
Anterior Segment Dysgenesis 2	Microphthalmia, Anterior segment of eye aplasia, Congenital aphakia, Aniridia	OMIM:610256
Alzahrani-Kuwahara Syndrome	Long philtrum, Hypodontia, Narrow philtrum, Patent foramen ovale, Coronary sinus enlargement, Mic...	OMIM:619268
Scorpion Envenomation	Myocarditis, Pulmonary edema, Purpura, Stroke, Acute pancreatitis, Tachypnea, Erythema	ORPHA:466677
Mitochondrial Complex Iii Deficiency, Nuclear Type 10	Cholelithiasis, Normochromic anemia, Hypertrophic cardiomyopathy, Pericardial effusion, Thrombocy...	OMIM:618775
Hyperoxaluria, Primary, Type I	Increased bone mineral density, Cutis marmorata, Peripheral arterial stenosis, Acrocyanosis, Path...	OMIM:259900
Distal Renal Tubular Acidosis	Rickets, Reduced bone mineral density, Osteomalacia, Hemolytic anemia, Increased susceptibility t...	ORPHA:18
Tropical Pancreatitis	Jaundice, Abnormal pancreatic duct morphology, Pancreatic calcification, Pancreatic adenocarcinom...	ORPHA:103918
Isolated Arrhinia	Tessier cleft, Microphthalmia, Eyelid coloboma	ORPHA:1134
Carbonic Anhydrase Va Deficiency, Hyperammonemia Due To	Tachypnea, Jaundice	OMIM:615751
Joubert Syndrome 5	Ptosis, Cleft palate, Central apnea, Episodic tachypnea	OMIM:610188
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 9	Buphthalmos, Microphthalmia	OMIM:616538
Microcornea-Posterior Megalolenticonus-Persistent Fetal Vasculature-Coloboma Syndrome	Microphthalmia	ORPHA:231736
Familial Hypocalciuric Hypercalcemia	Peptic ulcer, Pancreatitis, Lipoma, Osteomalacia, Chondrocalcinosis	ORPHA:405
Autosomal Dominant Coarctation Of Aorta	Abnormal aortic arch morphology, Aortic arch aneurysm, Patent ductus arteriosus, Ventricular sept...	ORPHA:1455
Aprosencephaly And Cerebellar Dysgenesis	Cerebellar dysplasia, Poorly formed metencephalon, Aprosencephaly	OMIM:601374
Holocarboxylase Synthetase Deficiency	Tachypnea, Thrombocytopenia	OMIM:253270
Serotonin Syndrome	Tachypnea	ORPHA:43116
Hypomagnesemia 3, Renal	Amelogenesis imperfecta, Rickets, Genu valgum, Short metacarpal, Enamel hypoplasia, Bowing of the...	OMIM:248250
Cystinosis, Late-Onset Juvenile Or Adolescent Nephropathic Type	Rickets	OMIM:219900
Malignant Hyperthermia Of Anesthesia	Hypercapnia, Tachypnea, Cardiomyocyte mitochondrial proliferation	ORPHA:423
Diamond-Blackfan Anemia 5	Erythroid hypoplasia, Macrocytic anemia, Reticulocytopenia, Leukopenia, Ventricular septal defect	OMIM:612528
Microphthalmia/Coloboma 12	Microphthalmia, Optic nerve aplasia	OMIM:120200
Renal Cysts And Diabetes Syndrome	Pancreatic hypoplasia, Biliary tract abnormality, Pancreatic atrophy, Exocrine pancreatic insuffi...	OMIM:137920
Pyruvate Carboxylase Deficiency	Tachypnea, Hepatomegaly	ORPHA:3008
Norrie Disease	Buphthalmos, Microphthalmia, Hypoplasia of the iris	OMIM:310600
Persistent Hyperplastic Primary Vitreous	Phthisis bulbi, Microphthalmia, Buphthalmos, Macular hypoplasia	ORPHA:91495
Pierson Syndrome	Microphthalmia, Death in childhood, Hypoplasia of the ciliary body, Hypoplasia of the iris, Riege...	OMIM:609049
Atrial Septal Defect 1	Atrial septal dilatation, Persistent left superior vena cava, Aortic valve stenosis, Tetralogy of...	OMIM:108800
Xeroderma Pigmentosum, Complementation Group B	Microphthalmia	OMIM:610651
Norrie Disease	Thin vermilion border, Microphthalmia, Aplasia/Hypoplasia of the lens, Venous insufficiency, Scol...	ORPHA:649
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive	Phthisis bulbi, Microphthalmia, Buphthalmos	OMIM:221900
Orotic Aciduria	Hypochromia, Folate-unresponsive megaloblastic anemia, Pyrimidine-responsive megaloblastic anemia...	OMIM:258900
Neurodevelopmental Disorder With Microcephaly, Cerebral Atrophy, And Visual Impairment	Cardiomegaly, Partial atrioventricular canal defect, Coarctation of aorta, Secundum atrial septal...	OMIM:620066
Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome	Tachypnea, Hepatomegaly, Hepatitis	ORPHA:415
Right Pulmonary Artery, Anomalous Origin Of, Familial	Patent foramen ovale, Anomalous origin of right pulmonary artery from ascending aorta, Coarctatio...	OMIM:610338
Laubry-Pezzi Syndrome	Perimembranous ventricular septal defect, Patent ductus arteriosus, Subarterial ventricular septa...	ORPHA:99094
Infantile Nephropathic Cystinosis	Rickets	ORPHA:411629
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3	Buphthalmos, Microphthalmia, Hypoplasia of the retina, Everted lower lip vermilion	OMIM:253280
Primary Fanconi Renotubular Syndrome	Osteomalacia, Hypophosphatemic rickets, Increased susceptibility to fractures	ORPHA:3337
Exercise-Induced Malignant Hyperthermia	Tachypnea, Flushing, Thrombocytopenia, Hypocapnia	ORPHA:466650
Hypoplastic Left Heart Syndrome 2	Hypoplastic left heart, Mitral atresia, Ventricular septal defect, Aortic valve atresia	OMIM:614435
Brain Small Vessel Disease 1 With Or Without Ocular Anomalies	Ischemic stroke, Microphthalmia, Dilation of Virchow-Robin spaces, Hypoplasia of the iris, Cerebr...	OMIM:175780

Histopathology

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

There is no histopathology data for Sox11

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 Sox11.

No publications found that use IMPC mice or data for Sox11.

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
Sox11^{tm2a(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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