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Gene: Bmp5 MGI:88181

Gene Summary

Name:

bone morphogenetic protein 5

Synonyms:

N/A

Order Alleles

IMPC Data Collections

IMPC Phenotype Summary

Significant

Not Significant

Not tested

View all our phenotype data below

Phenotypes

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

No results meet the p-value threshold

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lacZ Expression

Expression data not available

Associated Images

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

MicroCT E18.5

Embryo reconstruction

8 Images

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Human diseases caused by Bmp5 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 Bmp5 (0 diseases)
Human diseases predicted to be associated with Bmp5 (1991 diseases)

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

The table below shows human diseases predicted to be associated to Bmp5 by phenotypic similarity.

Disease	Matching phenotypes	Source
Cryptotia, Familial	Cryptotia, Abnormality of the outer ear	OMIM:123557
Microtia With Nasolacrimal Duct Imperforation And Eye Coloboma	Microtia	OMIM:611863
Ear Pits, Posterior Helical	Posterior helix pit	OMIM:128710
Darwinian Tubercle Of Pinna	Darwin tubercle of helix	OMIM:124300
Ear Without Helix	Abnormal helix morphology	OMIM:128800
Question Mark Ears, Isolated	Hearing abnormality, Question mark ear	OMIM:612798
Noduli Cutanei, Multiple, With Urinary Tract Abnormalities	Hydronephrosis, Duplicated collecting system	OMIM:163850
Renal Caliceal Diverticuli-Deafness Syndrome	Abnormality of the urinary system, Hydroureter, Hydronephrosis, Abnormality of the upper urinary ...	ORPHA:2838
Coxa Vara	Coxa vara	OMIM:122750
Hypoplastic Femurs And Pelvis	Hypoplastic pelvis, Short femur	OMIM:619545
Cranial Nerves, Congenital Paresis Of	Abnormal pinna morphology	OMIM:218100
Rhizomelic Chondrodysplasia Punctata, Type 3	Rhizomelia, Epiphyseal stippling, Short humerus, Short femur	OMIM:600121
Trochlea Of The Humerus, Aplasia Of	Short humerus	OMIM:191000
Rhizomelic Dysplasia, Ain-Naz Type	Rhizomelia, Wide distal femoral metaphysis, Short humerus, Hypoplasia of the femoral head, Hip dy...	OMIM:619598
Coxoauricular Syndrome	Hearing impairment, Microtia	OMIM:122780
Rhizomelic Dysplasia, Patterson-Lowry Type	Rhizomelia, Deformed humeral heads, Short humerus, Brachydactyly, Coxa vara, Short metatarsal, Sh...	OMIM:601438
Femur-Fibula-Ulna Complex	Aplasia/Hypoplasia of the radius, Finger syndactyly, Micromelia, Abnormal femur morphology, Humer...	ORPHA:2019
Congenital Anomalies Of Kidney And Urinary Tract 2	Renal hypoplasia, Hydroureter, Hyperechogenic kidneys, Renal insufficiency, Ureteropelvic junctio...	OMIM:143400
Ureter, Cancer Of	Neoplasm of the ureter	OMIM:191600
Congenital Primary Megaureter	Abnormal penis morphology, Recurrent urinary tract infections, Vesicoureteral reflux, Nephrolithi...	ORPHA:617
Thin Ribs-Tubular Bones-Dysmorphism Syndrome	Abnormal pelvic girdle bone morphology, Slender long bone, Low-set, posteriorly rotated ears, Mac...	ORPHA:1506
Prune Belly Syndrome With Pulmonic Stenosis, Impaired Intellectual Development, And Deafness	Hydronephrosis, Hydroureter	OMIM:264140
Acheiropodia	Abnormal epiphysis morphology, Fibular aplasia, Absent hand, Short humerus, Upper limb phocomelia...	ORPHA:931
Conductive Deafness-Malformed External Ear Syndrome	Low-set ears, Conductive hearing impairment, Stenosis of the external auditory canal, Overfolded ...	ORPHA:3216
Acromesomelic Dysplasia 2A	Acromesomelia, Short tibia, Aplasia/Hypoplasia involving the metacarpal bones, Distal tibiofibula...	OMIM:200700
Brachydactyly Type A1	Cone-shaped epiphysis, Distal symphalangism of hands, Short thumb, Talipes equinovarus, Short hal...	ORPHA:93388
Microtia, Hearing Impairment, And Cleft Palate	Stenosis of the external auditory canal, Increased incisura length, Mixed hearing impairment, Ove...	OMIM:612290
Craniofacial Microsomia 2	Microtia, third degree, Microtia, first degree, Microtia, second degree, Microtia	OMIM:620444
Langer Mesomelic Dysplasia	Increased carrying angle, Short tibia, Radial bowing, Rudimentary fibula, Rhizomelic arm shorteni...	OMIM:249700
Vesicoureteral Reflux 3	Hydroureter, Grade IV vesicoureteral reflux, Recurrent urinary tract infections, Grade III vesico...	OMIM:613674
Acheiropody	Absent forearm, Lower limb peromelia, Short tibia, Absent radius, Fibular aplasia, Absent hand, C...	OMIM:200500
Acromesomelic Dysplasia 2C	Shortening of all middle phalanges of the fingers, Hip dislocation, Elbow dislocation, Radial bow...	OMIM:201250
Humeroradial Synostosis	Humeroradial synostosis	OMIM:143050
Three M Syndrome 3	Slender long bone, Short thorax, Increased vertebral height, Joint hypermobility, Protruding ear,...	OMIM:614205
Spondyloperipheral Dysplasia-Short Ulna Syndrome	Platyspondyly, Flattened femoral head, Aplasia/hypoplasia involving bones of the extremities, Art...	ORPHA:1856
3M Syndrome	Thin ribs, Short neck, Hypoplastic ischia, Hypospadias, Abnormality of the elbow, Bulbous nose, I...	ORPHA:2616
Congenital Anomalies Of Kidney And Urinary Tract 3	Renal hypoplasia, Multicystic kidney dysplasia, Vesicoureteral reflux, Hydronephrosis, Ectopic ki...	OMIM:618270
Urofacial Syndrome 1	Urethral obstruction, Hydroureter, Recurrent urinary tract infections, Hydronephrosis, Urethral v...	OMIM:236730
Renal Hypodysplasia/Aplasia 3	Multicystic kidney dysplasia, Renal agenesis, Horseshoe kidney, Vesicoureteral reflux, Hydronephr...	OMIM:617805
Osebold-Remondini Syndrome	Mesomelia, Short toe, Short tibia, Carpal synostosis, Type A brachydactyly, Radial deviation of f...	OMIM:112910
Cervical Rib	Cervical ribs	OMIM:117900
Acrocephalopolydactyly	Genu recurvatum, Depressed nasal ridge, Thoracic hypoplasia, Hepatosplenomegaly, Abnormal renal m...	ORPHA:221054
Leri-Weill Dyschondrosteosis	Increased carrying angle, Abnormal femoral neck morphology, Radial bowing, Short tibia, Abnormal ...	OMIM:127300
Microtia-Anotia	Anotia, Microtia	OMIM:600674
Three M Syndrome 2	Thin ribs, Short 5th finger, Pectus carinatum, Depressed nasal bridge, Dental malocclusion, Clino...	OMIM:612921
Three M Syndrome 1	Short 5th finger, Depressed nasal bridge, Mandibular prognathia, Small for gestational age, Joint...	OMIM:273750
Cerebrooculofacioskeletal Syndrome 4	Low-set ears, Micrognathia, Decreased body weight, Dislocated radial head, Hip dislocation, Failu...	OMIM:610758
Spondyloperipheral Dysplasia	Broad thumb, Absent styloid process of ulna, Barrel-shaped chest, Sensorineural hearing impairmen...	OMIM:271700
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 3	Platyspondyly, Thin ribs, Metaphyseal irregularity, Multiple joint dislocation, Short femoral nec...	OMIM:618395
Lethal Congenital Contracture Syndrome Type 1	Limitation of joint mobility, Slender long bone, Abnormal form of the vertebral bodies, Low-set, ...	ORPHA:1486
Acrocapitofemoral Dysplasia	Radial bowing, Short tibia, Hypoplastic iliac wing, Dysplasia of the femoral head, Cone-shaped ep...	OMIM:607778
Garg-Mishra Progeroid Syndrome	Platyspondyly, Thin ribs, Narrow chest, Slender long bone, Persistent open anterior fontanelle, S...	OMIM:620601
Radioulnar Synostosis-Microcephaly-Scoliosis Syndrome	Pectus carinatum, Finger syndactyly, Radioulnar synostosis, Microcephaly, Abnormal rib morphology...	ORPHA:3268
Ureterocele	Duplicated collecting system, Ureterocele	OMIM:191650
Earring Holes, Natural	Congenital earlobe sinuses	OMIM:129000
Metaphyseal Dysplasia, Braun-Tinschert Type	Radial bowing, Broad long bones, Sclerosis of middle finger phalanx, Humerus varus, Fibular bowin...	ORPHA:85188
Femoral-Facial Syndrome	Aplasia/Hypoplasia of the tibia, Low-set ears, Micrognathia, Renal hypoplasia/aplasia, Radioulnar...	ORPHA:1988
Thoracolaryngopelvic Dysplasia	Hypoplastic iliac wing, Hypoplastic pelvis, Laryngeal stenosis, Horizontal ribs, Short ribs, Meta...	OMIM:187760
Ureter, Bifid Or Double	Ureteral duplication	OMIM:191550
Microcephalic Osteodysplastic Primordial Dwarfism, Type Ii	Ivory epiphyses, Hypoplastic scapulae, Radial bowing, Hypoplastic iliac wing, Long clavicles, Hyp...	OMIM:210720
Thrombocytopenia-Absent Radius Syndrome	Broad thumb, Finger syndactyly, Fibular aplasia, Micrognathia, Aplasia/Hypoplasia of the patella,...	ORPHA:3320
Acrodysostosis	Hearing impairment, Bowing of the long bones, Abnormal metacarpal morphology, Abnormal morphology...	ORPHA:950
Ulnar Hypoplasia With Impaired Intellectual Development	Talipes equinovarus, Limitation of knee mobility, Bilateral ulnar hypoplasia, Limited elbow movement	OMIM:276821
Cenani-Lenz Syndactyly Syndrome	Renal hypoplasia, Broad hallux, Renal agenesis, Micrognathia, Radioulnar synostosis, Enamel hypop...	OMIM:212780
Metaphyseal Anadysplasia 2	Micromelia, Short femoral neck, Metaphyseal widening, Metaphyseal irregularity, Genu varum, Bowin...	OMIM:613073
Osteogenesis Imperfecta, Type Iii	Thin ribs, Scoliosis, Kyphosis, Slender long bone, Hearing impairment, Bowing of limbs due to mul...	OMIM:259420
Léri-Weill Dyschondrosteosis	Elbow dislocation, Radial bowing, Short tibia, Abnormal tibia morphology, Genu valgum, Patellar a...	ORPHA:240
Osteogenesis Imperfecta, Type Xxii	Multiple small vertebral fractures, Dentinogenesis imperfecta, Slender long bone, Hearing impairm...	OMIM:619795
Microtia-Eye Coloboma-Imperforation Of The Nasolacrimal Duct Syndrome	Microtia	ORPHA:139450
Spondylometaphyseal Dysplasia, Type A4	Platyspondyly, Pectus carinatum, Hypoplasia of the capital femoral epiphysis, Metaphyseal scleros...	OMIM:609052
Mesomelic Dwarfism, Reinhardt-Pfeiffer Type	Ulnar deviation of finger, Synostosis of carpal bones, Micromelia, Elbow dislocation, Abnormal ti...	ORPHA:2634
Progressive Spondyloepimetaphyseal Dysplasia-Short Stature-Short Fourth Metatarsals-Intellectual Disability Syndrome	Low-set ears, Overlapping toe, Genu valgum, Carpal bone hypoplasia, Short neck, Beaking of verteb...	ORPHA:457395
Cenani-Lenz Syndrome	Synostosis of joints, Toe syndactyly, Synostosis of carpal bones, Elbow dislocation, Finger synda...	ORPHA:3258
Microcephaly 6, Primary, Autosomal Recessive	Microtia	OMIM:608393
Ischiocoxopodopatellar Syndrome With Or Without Pulmonary Arterial Hypertension	Sandal gap, Patellar hypoplasia, Hypoplasia of the lesser trochanter, Micrognathia, Patellar apla...	OMIM:147891
Mietens-Weber Syndrome	Elbow flexion contracture, Dislocated radial head, Absent proximal radial epiphyses, Forearm unde...	OMIM:249600
Ulna And Fibula, Absence Of, With Severe Limb Deficiency	Low-set ears, Radial bowing, Long ear, Aplasia/Hypoplasia of the pubic bone, Fibular aplasia, Hum...	OMIM:276820
Ulnar Hypoplasia	Radial bowing, Radial dysplasia, Hypoplasia of the ulna, Hypoplasia of the radius, Ulnar deviatio...	OMIM:191440
Microtia	Hypoplastic helices, Atresia of the external auditory canal, Anotia, Unilateral conductive hearin...	ORPHA:83463
Short Stature, Auditory Canal Atresia, Mandibular Hypoplasia, And Skeletal Abnormalities	Hypoplastic scapulae, Rhizomelia, Conductive hearing impairment, Atresia of the external auditory...	OMIM:602471
Ulna Hypoplasia-Intellectual Disability Syndrome	Mesomelia, Ulnar deviation of finger, Broad thumb, Micromelia, Elbow dislocation, Delayed cranial...	ORPHA:2249
Mosaic Trisomy 14	Wide nasal bridge, Narrow chest, Failure to thrive, Camptodactyly of finger, Low-set, posteriorly...	ORPHA:1703
Ossification Anomalies-Psychomotor Developmental Delay Syndrome	Thin ribs, Short distal phalanx of finger, Short 5th finger, Triangular shaped distal phalanges o...	ORPHA:73230
Microtia With Meatal Atresia And Conductive Deafness	Anotia, Microtia, Conductive hearing impairment, Aplasia/Hypoplasia of the middle ear	OMIM:251800
Van Den Ende-Gupta Syndrome	Thin ribs, Joint contracture of the hand, Hypoplastic scapulae, Long metacarpals, Dilatation of t...	OMIM:600920
Pelvic Dysplasia-Arthrogryposis Of Lower Limbs Syndrome	Depressed nasal bridge, Slender long bone, Sacrococcygeal pilonidal abnormality, Hypoplastic pelv...	ORPHA:2840
Ulnar Hemimelia	Abnormal upper limb bone morphology, Hypoplastic scapulae, Short forearm, Radial bowing, Abnormal...	ORPHA:93320
Phocomelia, Schinzel Type	Finger aplasia, Aplasia/Hypoplasia of the sacrum, Radial bowing, Aplasia/Hypoplasia involving the...	ORPHA:2879
Arthrogryposis, Cleft Palate, Craniosynostosis, And Impaired Intellectual Development	Thin ribs, Slender long bone, Retrognathia, Micrognathia, Vesicoureteral reflux, Decreased body w...	OMIM:618265
Distal Deletion 17Q	Small hand, Deviation of finger, Abnormal form of the vertebral bodies, Micromelia, Low-set, post...	ORPHA:1597
Acrofacial Dysostosis, Rodríguez Type	Finger aplasia, Abnormal pelvic girdle bone morphology, Aplasia/Hypoplasia of the radius, Microre...	ORPHA:1788
Epidermolysis Bullosa Simplex 5C, With Pyloric Atresia	Underdeveloped nasal alae, Anteverted nares, Macrocephaly, Flexion contracture, Microtia	OMIM:612138
Thymic-Renal-Anal-Lung Dysplasia	Ureteral agenesis, Ureteral dysgenesis, Renal agenesis	OMIM:274265
Symbrachydactyly Of Hands And Feet	Aplasia/Hypoplasia of the radius, Abnormality of the humeroulnar joint, Abnormal morphology of ul...	ORPHA:1570
Metaphyseal Chondrodysplasia, Schmid Type	Abnormal vertebral morphology, Radial metaphyseal irregularity, Anterior rib cupping, Genu varum,...	ORPHA:174
Arms, Malformation Of	Radioulnar synostosis, Hypoplasia of the radius, Hypoplasia of the ulna	OMIM:107900
Lethal Faciocardiomelic Dysplasia	Short 5th finger, Microretrognathia, Short tibia, Short thumb, Sandal gap, Radial club hand, Bila...	ORPHA:1972
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type	Delayed epiphyseal ossification, Low-set ears, Bell-shaped thorax, Short neck, Flat acetabular ro...	OMIM:613320
Acro-Renal-Mandibular Syndrome	Thin ribs, Hypoplastic scapulae, Finger syndactyly, Rudimentary fibula, Micrognathia, Renal hypop...	ORPHA:958
Craniodiaphyseal Dysplasia	Craniofacial hyperostosis, Conductive hearing impairment, Macrocephaly, Stenosis of the external ...	ORPHA:1513
Autoimmune Disease, Multisystem, With Facial Dysmorphism	Low-set ears, Clinodactyly, Hypersplenism, Hepatomegaly, Thoracic kyphoscoliosis, Choanal atresia...	OMIM:613385
Faciocardiomelic Dysplasia, Lethal	Short 5th finger, Radial deviation of the hand, Short thumb, Retrognathia, Micrognathia, Single t...	OMIM:227270
Rhizomelic Dysplasia, Patterson-Lowry Type	Rhizomelia, Deviation of finger, Genu valgum, Deformed humeral heads, Short humerus, Brachydactyl...	ORPHA:2831
Cutaneous Mastocytosis, Conductive Hearing Loss And Microtia	Wide nasal bridge, Conductive hearing impairment, Underdeveloped nasal alae, Micrognathia, Joint ...	OMIM:248910
Atelosteogenesis, Type I	Low-set ears, Elbow dislocation, Radial bowing, Fibular aplasia, Bell-shaped thorax, Micrognathia...	OMIM:108720
Angioosteohypotrophic Syndrome	Upper limb undergrowth, Abnormal foot morphology, Aplasia/hypoplasia involving bones of the upper...	ORPHA:75508
Multiple Synostoses Syndrome 1	Hypoplastic nasal septum, Bilateral conductive hearing impairment, Carpal synostosis, Cutaneous f...	OMIM:186500
Prune Belly Syndrome	Congenital hip dislocation, Multicystic kidney dysplasia, Hydroureter, Abnormality of the uterus,...	ORPHA:2970
Skeletal Defects, Genital Hypoplasia, And Impaired Intellectual Development	Aplasia/Hypoplasia of the radius, Absent thumb, Short tibia, Fibular hypoplasia, Supernumerary ri...	OMIM:612447
Endosteal Hyperostosis, Worth Type	Sclerotic vertebral body, Craniofacial hyperostosis, Abnormal form of the vertebral bodies, Senso...	ORPHA:2790
Tibial Aplasia-Ectrodactyly Syndrome	Aplasia/Hypoplasia of the tibia, Finger syndactyly, Ectrodactyly, Preaxial hand polydactyly, Abno...	ORPHA:3329
Parietal Foramina With Cleidocranial Dysplasia	Short clavicles, Microtia, Parietal foramina, Macrocephaly	OMIM:168550
Gollop-Wolfgang Complex	Aplasia/Hypoplasia of the tibia, Bifid femur, Ectrodactyly, Aplasia/Hypoplasia of the ulna, Hand ...	ORPHA:1986
Fibulo-Ulnar Hypoplasia-Renal Anomalies Syndrome	Wide nasal bridge, Depressed nasal bridge, Renal hypoplasia, Finger syndactyly, Abnormal mesenter...	ORPHA:2256
Diastrophic Dysplasia	Hypoplastic cervical vertebrae, Hearing impairment, Genu valgum, Hip contracture, Talipes equinov...	OMIM:222600
Müllerian Duct Anomalies-Limb Anomalies Syndrome	Micromelia, Abnormality of the wrist, Short humerus, Aplasia/Hypoplasia of the ulna, Split hand, ...	ORPHA:2491
Deafness, Conductive, With Malformed External Ear	Low-set ears, Abnormality of the middle ear ossicles, Conductive hearing impairment, Abnormal pin...	OMIM:221300
Diaphragmatic Defect-Limb Deficiency-Skull Defect Syndrome	Aplasia/Hypoplasia of the radius, Finger syndactyly, Abnormal morphology of female internal genit...	ORPHA:2141
Autosomal Dominant Omodysplasia	Rhizomelia, Short 1st metacarpal, Elbow dislocation, Bifid scrotum, Micrognathia, Cryptorchidism,...	ORPHA:93328
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome	Low-set ears, Platyspondyly, Rhizomelia, Narrow chest, Abnormal epiphysis morphology, Abnormal cl...	ORPHA:93267
Alagille Syndrome	Short distal phalanx of finger, Nephrotic syndrome, Abnormal form of the vertebral bodies, Failur...	ORPHA:52
Metatropic Dysplasia	Narrow chest, Scoliosis, Coarse metaphyseal trabecularization, Micromelia, Abnormal enchondral os...	ORPHA:2635
Humero-Radio-Ulnar Synostosis	Abnormality of the ureter, Abnormal thumb morphology, Radioulnar synostosis, Aplasia/Hypoplasia o...	ORPHA:3266
Epiphyseal Dysplasia, Multiple, With Severe Proximal Femoral Dysplasia	Epiphyseal dysplasia, Broad femoral neck, Arthralgia of the hip, Flared femoral metaphysis, Genu ...	OMIM:609324
Spondylometaphyseal Dysplasia, Corner Fracture Type	Pectus carinatum, Metaphyseal irregularity, Hypoplasia of the odontoid process, Short femoral nec...	OMIM:184255
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly	Talipes equinovarus, Polycystic kidney dysplasia, Renal dysplasia, Cone-shaped epiphysis, Thoraci...	OMIM:613091
Short Ulna-Dysmorphism-Hypotonia-Intellectual Disability Syndrome	Low-set ears, Clinodactyly, Thick nasal alae, Micrognathia, Decreased body weight, Hypoplasia of ...	ORPHA:357175
Camptodactyly Syndrome, Guadalajara Type 1	Toe syndactyly, Short nose, Pectus carinatum, Short toe, Low-set, posteriorly rotated ears, Attac...	ORPHA:1327
Craniosynostosis-Hydrocephalus-Arnold-Chiari Malformation Type I-Radioulnar Synostosis Syndrome	Low-set ears, Pectus carinatum, Renal hypoplasia, Toe syndactyly, Depressed nasal bridge, Renal a...	ORPHA:171839
Codas Syndrome	Congenital hip dislocation, Absent epiphyses, Crumpled ear, Conductive hearing impairment, Hypopl...	OMIM:600373
Caudal Duplication Anomaly	Ureteral duplication	OMIM:607864
Nephrosis-Deafness-Urinary Tract-Digital Malformations Syndrome	Bifid uvula, Abnormality of the urinary system, Broad hallux, Abnormal thumb morphology, Hydronep...	ORPHA:2669
Mandibulofacial Dysostosis-Microcephaly Syndrome	Low-set ears, Abnormality of the outer ear, Absent tragus, Hypoplasia of the maxilla, Conductive ...	ORPHA:79113
Atelosteogenesis Type I	Low-set ears, Micrognathia, Talipes equinovarus, Abnormal fibula morphology, Laryngotracheal sten...	ORPHA:1190
Spondyloepimetaphyseal Dysplasia, Missouri Type	Pear-shaped vertebrae, Flared metaphysis, Small epiphyses, Femoral bowing, Tibial bowing, Knee os...	ORPHA:93356
Meier-Gorlin Syndrome 1	Thin ribs, Low-set ears, Joint contracture of the hand, Small hand, Elbow dislocation, Hearing im...	OMIM:224690
Coxoauricular Syndrome	Abnormal pelvic girdle bone morphology, Atresia of the external auditory canal, Hearing impairmen...	ORPHA:1508
Multicentric Carpo-Tarsal Osteolysis With Or Without Nephropathy	Nephropathy, Wide nasal bridge, Abnormal epiphysis morphology, Carpal osteolysis, Wrist swelling,...	ORPHA:2774
Phocomelia-Ectrodactyly-Deafness-Sinus Arrhythmia Syndrome	Aplasia/Hypoplasia of the earlobes, Conductive hearing impairment, Ectrodactyly, Radial club hand...	ORPHA:2878
Ulnar Hypoplasia-Split Foot Syndrome	Aplasia/Hypoplasia of the radius, Split hand, Hypoplasia of the ulna, Split foot	ORPHA:1122
Short Stature And Facioauriculothoracic Malformations	Low-set ears, Pectus carinatum, Cupped ear, Cervical ribs, Abnormal odontoid process morphology, ...	OMIM:609654
Intellectual Developmental Disorder, Autosomal Recessive 35	Low-set ears, Clinodactyly, Thick nasal alae, Micrognathia, Decreased body weight, Hypoplasia of ...	OMIM:615162
Shox-Related Short Stature	Genu valgum, Micrognathia, Ulnar radial head dislocation, Madelung deformity, Tibial bowing, Cubi...	ORPHA:314795
Acromesomelic Dysplasia, Maroteaux Type	Kyphosis, Abnormal form of the vertebral bodies, Vertebral wedging, Joint stiffness, Joint hyperm...	ORPHA:40
Microphthalmia-Microtia-Fetal Akinesia Syndrome	Hydroureter, Camptodactyly of finger, Duodenal stenosis, Abnormality of the upper urinary tract, ...	ORPHA:2547
Craniosynostosis, Herrmann-Opitz Type	Micromelia, Finger syndactyly, Abnormal antihelix morphology, Turricephaly, Brachycephaly, Brachy...	ORPHA:2145
Epiphyseal Dysplasia, Multiple, 5	Epiphyseal dysplasia, Metaphyseal irregularity, Broad femoral neck, Arthralgia of the hip, Hypopl...	OMIM:607078
Brachydactyly Type A2	Aplasia/Hypoplasia of the middle phalanx of the 2nd finger, Short middle phalanx of finger, Type ...	ORPHA:93396
Congenital Radioulnar Synostosis	Congenital hip dislocation, Abnormality of the musculature of the upper arm, Limited elbow moveme...	ORPHA:3269
Rhizomelic Chondrodysplasia Punctata, Type 5	Metaphyseal cupping, Short femoral neck, Pes cavus, Short humerus, Talipes equinovarus, Narrow il...	OMIM:616716
Premature Aging Syndrome, Penttinen Type	Thin ribs, Delayed cranial suture closure, Micrognathia, Aplasia of the nasal bone, Sensorineural...	OMIM:601812
Juberg-Hayward Syndrome	Abnormal vertebral morphology, Hypospadias, Toe syndactyly, Short thumb, Horseshoe kidney, Abnorm...	ORPHA:2319
Omodysplasia 2	Broad femoral neck, Short 1st metacarpal, Uterus didelphys, Limited elbow flexion, Rhizomelic arm...	OMIM:164745
6Q16 Microdeletion Syndrome	Low-set ears, Depressed nasal bridge, Retrognathia, Bulbous nose, Anteverted nares, Micrognathia,...	ORPHA:171829
Renal Dysplasia	Chronic kidney disease, Thickened glomerular basement membrane, Multicystic kidney dysplasia, Ure...	ORPHA:93108
Osteogenesis Imperfecta, Type Viii	Platyspondyly, Thin ribs, Dentinogenesis imperfecta, Radial bowing, Slender long bone, Femoral bo...	OMIM:610915
Lethal Osteosclerotic Bone Dysplasia	Low-set ears, Depressed nasal ridge, Retrognathia, Anteverted nares, Micrognathia, Microcephaly, ...	ORPHA:1832
Spinocerebellar Ataxia-Dysmorphism Syndrome	Genu recurvatum, Slender long bone, Low-set, posteriorly rotated ears, Anteverted nares, Cubitus ...	ORPHA:1185
Duane-Radial Ray Syndrome	Sensorineural hearing impairment, Aplasia of metacarpal bones, Slit-like opening of the exterior ...	OMIM:607323
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia	Shallow acetabular fossae, Toe syndactyly, Broad thumb, Hearing impairment, Hypoplastic iliac win...	OMIM:609945
Metatropic Dysplasia	Epiphyseal dysplasia, Hypoplasia of the odontoid process, Caudal appendage, Genu valgum, Flat ace...	OMIM:156530
Metaphyseal Chondrodysplasia, Schmid Type	Broad middle phalanx of finger, Distal tibial bowing, Genu valgum, Genu varum, Irregular vertebra...	OMIM:156500
Diastrophic Dysplasia	Hypoplastic cervical vertebrae, Hearing impairment, Bowing of the long bones, Abnormal metacarpal...	ORPHA:628
Ritscher-Schinzel Syndrome 3	Short 1st metacarpal, Relative macrocephaly, Short first metatarsal, Anteverted nares, Epiphyseal...	OMIM:619135
Congenital Megacalycosis	Abnormal renal physiology, Recurrent urinary tract infections, Nephrolithiasis, Hydronephrosis, R...	ORPHA:93109
Prune Belly Syndrome	Prune belly, Congenital hip dislocation, Hydroureter, Cryptorchidism, Hydronephrosis, Talipes equ...	OMIM:100100
Spondyloepimetaphyseal Dysplasia, Guo-Campeau Type	Low-set ears, Clinodactyly of the 2nd finger, Micrognathia, Diaphyseal undertubulation, Patellar ...	OMIM:620663
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 1	Hydroureter, Fetal megacystis	OMIM:249210
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Leptodactylic Type	Epiphyseal dysplasia, Delayed epiphyseal ossification, Premature osteoarthritis, Genu valgum, Abn...	ORPHA:93360
Van Bogaert-Hozay Syndrome	Depressed nasal bridge, Micrognathia, Osteolytic defects of the phalanges of the hand, Abnormal p...	OMIM:277150
Hypertelorism, Microtia, Facial Clefting Syndrome	Abnormal vertebral morphology, Short 5th finger, Broad nasal tip, Conductive hearing impairment, ...	OMIM:239800
Branchiootic Syndrome 1	Low-set ears, Dilatated internal auditory canal, Cupped ear, Sensorineural hearing impairment, Mi...	OMIM:602588
Robin Sequence-Oligodactyly Syndrome	Finger aplasia, Abnormal form of the vertebral bodies, Micrognathia, Abnormal morphology of ulna,...	ORPHA:3104
Meier-Gorlin Syndrome 4	Genu recurvatum, Low-set ears, Hypoplasia of the maxilla, Slender long bone, Failure to thrive, M...	OMIM:613804
Spondyloepimetaphyseal Dysplasia, Shohat Type	Abnormal vertebral morphology, Delayed epiphyseal ossification, Premature osteoarthritis, Squared...	ORPHA:93352
Short Stature-Craniofacial Anomalies-Genital Hypoplasia Syndrome	Short distal phalanx of finger, Limitation of joint mobility, Finger syndactyly, Camptodactyly of...	ORPHA:2994
17Q21.31 Microduplication Syndrome	Abnormality of the outer ear, Anteverted nares, Micrognathia, Malar flattening, Microcephaly, Sho...	ORPHA:217340
Marshall-Smith Syndrome	Choanal atresia, Conductive hearing impairment, Slender long bone, Retrognathia, Failure to thriv...	ORPHA:561
Meier-Gorlin Syndrome 5	Low-set ears, Hypoplasia of the maxilla, Elbow dislocation, Clinodactyly, Slender long bone, Hypo...	OMIM:613805
Meier-Gorlin Syndrome 8	Low-set ears, Microtia	OMIM:617564
Congenital Disorder Of Glycosylation, Type Iig	Low-set ears, Small hand, Shallow acetabular fossae, Micrognathia, Talipes equinovarus, Short nec...	OMIM:611209
Carpenter Syndrome 1	Joint contracture of the hand, Toe syndactyly, Shallow acetabular fossae, Micrognathia, Genu valg...	OMIM:201000
20P12.3 Microdeletion Syndrome	Wide nasal bridge, Depressed nasal bridge, Hypoplasia of the maxilla, Malar flattening, Macroceph...	ORPHA:261295
Neurogenic Thoracic Outlet Syndrome	Abnormal rib morphology	ORPHA:100073
Non-Distal Duplication 10Q	Depressed nasal bridge, Low-set, posteriorly rotated ears, Micrognathia, Joint hypermobility, Mic...	ORPHA:1695
Acrorenal-Mandibular Syndrome	Thin ribs, Low-set ears, Hypoplastic scapulae, Toe syndactyly, Abnormal sacral segmentation, Rudi...	OMIM:200980
Chromosome 19Q13.11 Deletion Syndrome, Proximal	Pyloric stenosis, Hydroureter, Vesicoureteral reflux, Nephrolithiasis, Talipes equinovarus, Clino...	OMIM:617219
Kenny-Caffey Syndrome, Type 1	Thin ribs, Small hand, Carious teeth, Slender long bone, Delayed closure of the anterior fontanel...	OMIM:244460
Microcephaly-Micromelia Syndrome	Low-set ears, Narrow chest, Absent thumb, Short tibia, Micromelia, Oligodactyly, Micrognathia, Hu...	OMIM:251230
Spondylomegaepiphyseal Dysplasia With Upper Limb Mesomelia, Punctate Calcifications, And Deafness	Hypoplastic iliac wing, Sensorineural hearing impairment, Beaking of vertebral bodies, Broad toe,...	OMIM:609616
Spondyloepiphyseal Dysplasia-Brachydactyly And Distinctive Speech	Delayed epiphyseal ossification, Hypoplastic iliac wing, Carpal bone hypoplasia, Short neck, Shor...	OMIM:611717
Cleft Palate-Short Stature-Vertebral Anomalies Syndrome	Low-set, posteriorly rotated ears, Anteverted nares, Micrognathia, Short nose	ORPHA:2015
Ulna Metaphyseal Dysplasia Syndrome	Depressed nasal ridge, Aplasia/Hypoplasia of the radius, Abnormal form of the vertebral bodies, A...	ORPHA:1837
Kyphomelic Dysplasia	Narrow chest, Limitation of joint mobility, Micromelia, Short thorax, Abnormal form of the verteb...	ORPHA:1801
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 3	Lambdoidal craniosynostosis, Depressed nasal bridge, Nephrocalcinosis, Low-set ears, Hydroureter,...	OMIM:615398
Congenital Disorder Of Glycosylation, Type Iia	Abnormal rib cage morphology, Low-set ears, Mandibular prognathia, Slender long bone, Retrognathi...	OMIM:212066
Spondyloepiphyseal Dysplasia-Brachydactyly-Speech Disorder Syndrome	Wide nasal bridge, Depressed nasal bridge, Broad long bones, Aplasia/Hypoplasia involving the pel...	ORPHA:163654
Andersen Cardiodysrhythmic Periodic Paralysis	Low-set ears, Small hand, Toe syndactyly, Micrognathia, Short foot, Short metacarpal, Hypoplasia ...	OMIM:170390
Mesomelic Dysplasia, Savarirayan Type	High iliac wing, Elbow dislocation, Hypoplasia of proximal radius, Fibular aplasia, Glenoid fossa...	ORPHA:85170
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia	Thin ribs, Low-set ears, Metaphyseal cupping of metacarpals, Rhizomelia, Metaphyseal cupping, Pla...	OMIM:300863
Spondyloepimetaphyseal Dysplasia, Missouri Type	Pear-shaped vertebrae, Platyspondyly, Rhizomelia, Metaphyseal cupping, Radial bowing, Flared meta...	OMIM:602111
Endove Syndrome, Limb-Only Type	Cutaneous syndactyly of toes, Aplasia of the distal phalanges of the toes, Umbilical hernia, Vesi...	OMIM:619217
Catifa Syndrome	Delayed eruption of teeth, Anteverted nares, Camptodactyly, Mild microcephaly, Microtia	OMIM:618761
Ring Chromosome 8 Syndrome	Hydronephrosis, Abnormality of the ureter	ORPHA:1450
Isotretinoin Syndrome	Depressed nasal bridge, Abnormality of the outer ear, Micrognathia, Biparietal narrowing, Microtia	ORPHA:2305
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 1, With Or Without Fractures	Epiphyseal dysplasia, Radial bowing, Carpal synostosis, Genu valgum, Micrognathia, Decreased body...	OMIM:271640
Squalene Synthase Deficiency	Low-set ears, Depressed nasal bridge, Slender long bone, Elevated urine mesaconic acid level, Ret...	OMIM:618156
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type	Low-set ears, Large fleshy ears, Decreased fibular diameter, Micrognathia, Short neck, Hypospadia...	OMIM:616897
Holt-Oram Syndrome	Hypoplastic scapulae, Short forearm, Elbow dislocation, Radial bowing, Micrognathia, Ulnar deviat...	OMIM:142900
Ulnar-Mammary Syndrome	Hypoplastic scapulae, Short 5th toe, Absent radius, Short 5th finger, Obesity, Postaxial hand pol...	OMIM:181450
Fetal Minoxidil Syndrome	Clinodactyly of the 5th finger, Micrognathia, Cryptorchidism, Umbilical hernia	ORPHA:1918
Malan Overgrowth Syndrome	Depressed nasal bridge, Slender long bone, Macrocephaly, Pectus excavatum, Scoliosis	ORPHA:420179
Spondyloepimetaphyseal Dysplasia, Faden-Alkuraya Type	Low-set ears, Overlapping toe, Carpal bone hypoplasia, Short neck, Thoracolumbar scoliosis, Short...	OMIM:616723
Pelvis-Shoulder Dysplasia	Fifth finger distal phalanx clinodactyly, Bell-shaped thorax, Micrognathia, Talipes equinovarus, ...	ORPHA:2839
Multiple Epiphyseal Dysplasia, Lowry Type	Epiphyseal dysplasia, Delayed epiphyseal ossification, Rhizomelia, Small epiphyses, Genu valgum, ...	ORPHA:166016
Hinman Syndrome	Recurrent urinary tract infections, Vesicoureteral reflux, Renal insufficiency, Hydronephrosis, E...	ORPHA:84085
Upper Limb Mesomelic Dysplasia	Radial bowing, Ulnar deviation of finger, Hypoplasia of the ulna	ORPHA:2497
Spondylometaepiphyseal Dysplasia, Short Limb-Hand Type	Hypoplasia of the odontoid process, Broad long bones, Bell-shaped thorax, Micrognathia, Short nec...	OMIM:271665
Fibular Aplasia Or Hypoplasia, Femoral Bowing And Poly-, Syn-, And Oligodactyly	Aplasia/Hypoplasia of fingers, Toe syndactyly, Radial bowing, Finger syndactyly, Clinodactyly, Hy...	OMIM:228930
Postaxial Acrofacial Dysostosis	Low-set ears, Congenital hip dislocation, Choanal atresia, Cupped ear, Short thumb, Supernumerary...	OMIM:263750
Epiphyseal Dysplasia, Multiple, 7	Epiphyseal dysplasia, Hypoplasia of the capital femoral epiphysis, Monkey wrench femoral neck, Ad...	OMIM:617719
Alazami Syndrome	Low-set ears, Slender long bone, Scoliosis, Mild microcephaly, Wide nose	ORPHA:319671
Weill-Marchesani Syndrome 2	Broad phalanges of the hand, Short finger, Elbow flexion contracture, Broad ribs, Joint stiffness...	OMIM:608328
Even-Plus Syndrome	Epiphyseal dysplasia, Depressed nasal ridge, Renal hypoplasia, Bifid nasal tip, Recurrent urinary...	OMIM:616854
Maxillofacial Dysostosis	Abnormal pinna morphology	OMIM:155000
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly	Chronic kidney disease, Hypoplastic iliac wing, Foot polydactyly, Jaundice, Cone-shaped epiphyses...	OMIM:208500
Verloove Vanhorick-Brubakk Syndrome	Low-set ears, Abnormal pelvic girdle bone morphology, Finger syndactyly, Atresia of the external ...	ORPHA:3429
Melnick-Needles Syndrome	Anisospondyly, Short distal phalanx of finger, Narrow chest, Short thorax, Delayed eruption of te...	ORPHA:2484
Atelosteogenesis Type Ii	Wide nasal base, Low-set ears, Hypoplastic cervical vertebrae, Elbow dislocation, Genu valgum, Be...	ORPHA:56304
Hoxha-Aliu Syndrome	Abnormal vertebral morphology, Low-set ears, Overlapping toe, Absent fifth metatarsal, Uplifted e...	OMIM:620662
Meier-Gorlin Syndrome 3	Low-set ears, Micrognathia, Patellar aplasia, Aplasia/Hypoplasia of the patella, Talipes equinova...	OMIM:613803
Robinow Syndrome, Autosomal Recessive 1	Low-set ears, Bifid distal phalanx of toe, Small hand, Broad thumb, Clinodactyly, Radial bowing, ...	OMIM:268310
Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, Genital Anomalies, And Immunodeficiency	Low-set ears, Clinodactyly, Narrow nose, Micrognathia, Decreased body weight, Microcephaly, Short...	OMIM:618336
Cloacal Exstrophy	Hip dislocation, Hydroureter, Ureterocele, Abnormal clitoris morphology, Myelomeningocele, Horses...	ORPHA:93929
2p15-16.1 microdeletion syndrome	Hydronephrosis	DECIPHER:70
Ivic Syndrome	Absent thumb, Short 1st metacarpal, Short thumb, Carpal synostosis, Preaxial polydactyly, Upper l...	OMIM:147750
Craniosynostosis-Impaired Intellectual Development-Clefting Syndrome	Lower limb undergrowth, Microcephaly, Convex nasal ridge, Craniosynostosis, Forearm undergrowth, ...	OMIM:218650
Weill-Marchesani Syndrome 1	Broad phalanges of the hand, Spinal canal stenosis, Broad ribs, Joint stiffness, Lumbar hyperlord...	OMIM:277600
Marfanoid Habitus-Autosomal Recessive Intellectual Disability Syndrome	Lumbar hemivertebrae, Thin ribs, Thin metatarsal cortices, Thin metacarpal cortices, Small hypoth...	ORPHA:2463
Multiple Epiphyseal Dysplasia, Al-Gazali Type	Abnormal vertebral morphology, Delayed epiphyseal ossification, Wide nasal bridge, Clinodactyly, ...	ORPHA:166024
Thrombocytopenia-Absent Radius Syndrome	Short forearm, Broad thumb, Dilatation of the renal pelvis, Finger syndactyly, Carpal synostosis,...	OMIM:274000
Epiphyseal Dysplasia, Multiple, 4	Epiphyseal dysplasia, Limited elbow flexion, Hypoplasia of the femoral head, Talipes equinovarus,...	OMIM:226900
Epiphyseal Dysplasia, Multiple, 6	Arthralgia of the hip, Schmorl's node, Irregular epiphyses, Small epiphyses, Flat distal femoral ...	OMIM:614135
Cousin Syndrome	Low-set ears, Joint contracture of the hand, Hypoplastic scapulae, Hearing impairment, Hypoplasti...	OMIM:260660
Spondyloepimetaphyseal Dysplasia, X-Linked	Hypoplasia of the odontoid process, Broad long bones, Broad phalanx, Flat acetabular roof, Short ...	OMIM:300106
Heart Defects-Limb Shortening Syndrome	Narrow chest, Abnormal form of the vertebral bodies, Mesomelic/rhizomelic limb shortening, Abnorm...	ORPHA:1354
Metaphyseal Anadysplasia	Aplasia/Hypoplasia of the radius, Abnormal epiphysis morphology, Abnormal ulnar metaphysis morpho...	ORPHA:1040
Urofacial Syndrome 2	Megacystis, Recurrent urinary tract infections, Renal insufficiency, Vesicoureteral reflux, Hydro...	OMIM:615112
Mitochondrial Complex I Deficiency, Nuclear Type 18	Hydronephrosis, Hydroureter	OMIM:618240
Steinfeld Syndrome	Abnormal vertebral morphology, Abnormality of the vertebral column, Unilateral renal dysplasia, H...	OMIM:184705
Ulnar/Fibula Ray Defect-Brachydactyly Syndrome	Short 5th finger, Postaxial oligodactyly, Talipes equinovarus, Brachydactyly, Aplasia/Hypoplasia ...	ORPHA:52056
Difference Of Sex Development-Intellectual Disability Syndrome	Low-set, posteriorly rotated ears, Genu valgum, Short neck, Short thorax, Spina bifida occulta, H...	ORPHA:2983
Lipodystrophy, Generalized, With Impaired Intellectual Development, Deafness, Short Stature, And Slender Bones	Abnormal rib cage morphology, Abnormality of carpal bone ossification, Hypoplasia of the maxilla,...	OMIM:608154
Axial Mesodermal Dysplasia Spectrum	Abnormal pelvic girdle bone morphology, Abnormality of the urinary system, Abnormal form of the v...	ORPHA:1834
Non-Progressive Cerebellar Ataxia With Intellectual Disability	Short ear, Bulbous nose, Anteverted nares, Mesiodens, Macrocephaly, Wide nose	ORPHA:314647
Spondyloepiphyseal Dysplasia With Congenital Joint Dislocations	Elbow dislocation, Hearing impairment, Genu valgum, Bilateral single transverse palmar creases, B...	OMIM:143095
Acromesomelic Dysplasia 3	Aplasia of the proximal phalanx of the 2nd finger, Widened proximal tibial metaphyses, Short 1st ...	OMIM:609441
Femur, Unilateral Bifid, With Monodactylous Ectrodactyly	Bifid femur, Aplasia of the ulna, Absent tibia, Split hand, Hand monodactyly, Foot monodactyly	OMIM:228250
Achard Syndrome	Arachnodactyly, Brachycephaly, Joint hypermobility, Broad skull	OMIM:100700
Intellectual Disability-Polydactyly-Uncombable Hair Syndrome	Aplasia/Hypoplasia of the earlobes, Aplasia/Hypoplasia of fingers, Pectus carinatum, Toe syndacty...	ORPHA:3082
Cerebellofaciodental Syndrome	Low-set ears, Macrodontia of permanent maxillary central incisor, Dental malocclusion, Slender lo...	OMIM:616202
Adenylosuccinate Lyase Deficiency	Low-set ears, Microcephaly, Anteverted nares, Short nose	ORPHA:46
Chromosome 8Q22.1 Duplication Syndrome	Genu recurvatum, Broad thumb, Interphalangeal joint contracture of finger, Short thumb, Enlarged ...	OMIM:151200
Postaxial Acrofacial Dysostosis	Cupped ear, Finger syndactyly, Conductive hearing impairment, Camptodactyly of finger, Low-set, p...	ORPHA:246
Ring Chromosome 4 Syndrome	Aplasia/Hypoplasia of the radius, Split hand, Abnormality of the upper limb, Abnormal morphology ...	ORPHA:1447
Mietens Syndrome	Wide nasal bridge, Elbow dislocation, Short nose, Avascular necrosis of the capital femoral epiph...	ORPHA:2557
Spondylometaphyseal Dysplasia, Sedaghatian Type	Delayed epiphyseal ossification, Widened greater sciatic notch, Talipes equinovarus, Short neck, ...	OMIM:250220
Isotretinoin Embryopathy-Like Syndrome	Anotia, Microtia	OMIM:243440
Intellectual Developmental Disorder, Autosomal Recessive 68	Protruding ear, Microcephaly, Hypoplasia of the maxilla, Wide nasal bridge	OMIM:618302
Weyers Ulnar Ray/Oligodactyly Syndrome	Finger aplasia, Absent thumb, Proximal radial head dislocation, Micrognathia, Hydronephrosis, Hyp...	OMIM:602418
Wilson-Turner Syndrome	Small hand, Broad nasal tip, Micrognathia, Truncal obesity, Short foot, Microtia, Tapered finger	ORPHA:3459
Congenital Myopathy 22B, Severe Fetal	Thin ribs, Wide nasal bridge, Tapered toe, Low-set ears, Shoulder flexion contracture, Slender lo...	OMIM:620369
Maxillonasal Dysplasia, Binder Type	Depressed nasal bridge, Dental malocclusion, Large earlobe, Short columella, Short nose	OMIM:155050
Vitamin K Antagonist Embryofetopathy	Short distal phalanx of finger, Choanal atresia, Depressed nasal bridge, Hearing impairment, Punc...	ORPHA:1914
Spondylometaphyseal Dysplasia, Algerian Type	Platyspondyly, Hypoplasia of proximal radius, Short tubular bones of the hand, Flared femoral met...	OMIM:184253
Brachydactyly, Preaxial, With Hallux Varus And Thumb Abduction	Short distal phalanx of finger, Short thumb, Hallux varus, Short hallux, Hitchhiker thumb, Short ...	OMIM:112450
Weismann-Netter Syndrome	Aplasia/Hypoplasia of the radius, Abnormal form of the vertebral bodies, Abnormal tibia morpholog...	ORPHA:3344
Platyspondylic Lethal Skeletal Dysplasia, Torrance Type	Thin ribs, Low-set ears, Radial bowing, Severe limb shortening, Short neck, Flat acetabular roof,...	OMIM:151210
Oculoauriculofrontonasal Syndrome	Bifid nasal tip, Conductive hearing impairment, Underdeveloped nasal alae, Micrognathia, Wide nos...	ORPHA:398156
Ear-Patella-Short Stature Syndrome	Low-set ears, Abnormality of the outer ear, Elbow dislocation, Hearing impairment, Atresia of the...	ORPHA:2554
Menke-Hennekam Syndrome 1	Low-set ears, Depressed nasal ridge, Recurrent upper respiratory tract infections, Depressed nasa...	OMIM:618332
Developmental Delay, Dysmorphic Facies, And Brain Anomalies	Low-set ears, Depressed nasal bridge, Retrognathia, Microcephaly, Mandibular prognathia, Microtia	OMIM:620535
Brachydactyly-Syndactyly, Zhao Type	Short fifth metatarsal, Toe syndactyly, Short 5th metacarpal, Short middle phalanx of the 2nd fin...	ORPHA:93409
Adams-Oliver Syndrome 4	Aplasia of the distal phalanges of the toes, Short toe, Umbilical hernia, Aplasia of the middle p...	OMIM:615297
Neurodevelopmental Disorder With Central Hypotonia And Dysmorphic Facies	Congenital hip dislocation, Pectus carinatum, Delayed eruption of teeth, Dislocation of the femor...	OMIM:619797
Wolfram Syndrome, Mitochondrial Form	Hydronephrosis, Hydroureter	OMIM:598500
Roberts-Sc Phocomelia Syndrome	Low-set ears, Clinodactyly, Hyperplasia of the maxilla, Narrow naris, Micrognathia, Short neck, A...	OMIM:268300
Atresia Of Urethra	Hydroureter, Megacystis, Recurrent urinary tract infections, Bladder fistula, Renal insufficiency...	ORPHA:105
Spondyloepimetaphyseal Dysplasia, Irapa Type	Platyspondyly, Pectus carinatum, Synostosis of carpal bones, Abnormal epiphysis morphology, Micro...	ORPHA:93351
Diabetic Embryopathy	Spinal dysraphism, Abnormal morphology of female internal genitalia, Tetralogy of Fallot, Microgn...	ORPHA:1926
Fibular Hemimelia	Toe syndactyly, Finger syndactyly, Short tibia, Limited knee flexion/extension, Structural foot d...	ORPHA:93323
Parenti-Mignot Neurodevelopmental Syndrome	Low-set ears, Cupped ear, Prominent nasal bridge, Micrognathia, Prominent nasal tip, Craniosynost...	OMIM:619873
Distal Duplication 5Q	Low-set ears, Carious teeth, Absent thumb, Macrotia, Micrognathia, Prominent nasal bridge, Aplasi...	ORPHA:96097
Thalidomide Embryopathy	Preaxial hand polydactyly, Radial club hand, Aplasia/hypoplasia of the humerus, Chronic rhinitis,...	ORPHA:3312
Microcephalic osteodysplastic primordial dwarfism, type III	Pectus carinatum, Ulnar deviation of finger, Slender long bone, Bladder exstrophy, Delayed crania...	OMIM:210730
Spondyloepimetaphyseal Dysplasia, Borochowitz-Cormier-Daire Type	Platyspondyly, Micromelia, Metaphyseal spurs, Posterior rib cupping, Irregular epiphyses, Lumbar ...	OMIM:608728
Weismann-Netter Syndrome	Delayed eruption of permanent teeth, Fibular bowing, Lateral femoral bowing, Horizontal sacrum, S...	OMIM:112350
Campomelic Dysplasia	Low-set ears, Hearing impairment, Micrognathia, Bowing of the long bones, Talipes equinovarus, Sh...	ORPHA:140
Autosomal Dominant Myopia-Midfacial Retrusion-Sensorineural Hearing Loss-Rhizomelic Dysplasia Syndrome	Rhizomelia, Hypoplastic scapulae, Micromelia, Micrognathia, Femoral bowing, Dumbbell-shaped long ...	ORPHA:440354
ERI1-related disease	Low-set ears, Micrognathia, Decreased body weight, Patellar dislocation, Finger joint hypermobili...	OMIM:608739
Holoprosencephaly-Radial Heart Renal Anomalies Syndrome	Abnormality of the outer ear, Hearing impairment, Atresia of the external auditory canal, Absent ...	ORPHA:3186
Acrocapitofemoral Dysplasia	Pectus carinatum, Cone-shaped metacarpal epiphyses, Cone-shaped epiphysis, Abnormal femoral neck ...	ORPHA:63446
Sponastrime Dysplasia	Delayed epiphyseal ossification, Shallow acetabular fossae, Genu valgum, Aplasia of the nasal bon...	ORPHA:93357
Czeizel-Losonci Syndrome	1-2 finger syndactyly, Clubbing of toes, Abnormality of the urinary system, Ectrodactyly, Myelome...	ORPHA:2437
Seckel Syndrome 7	Lumbar scoliosis, Microcephaly, Hip dysplasia, Clinodactyly of the 5th finger, Short middle phala...	OMIM:614851
Aase-Smith Syndrome	Slender finger, Aplasia/Hypoplasia of the radius, Camptodactyly of finger, Abnormal hip bone morp...	ORPHA:916
Hydrocephalus-Costovertebral Dysplasia-Sprengel Anomaly Syndrome	Wide nasal bridge, Depressed nasal bridge, Mandibular prognathia, Low-set ears, Abnormal form of ...	ORPHA:2180
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2W	Distal upper limb muscle weakness, Slender long bone, Hand muscle weakness, Intrinsic hand muscle...	ORPHA:488333
Mesomelic Dwarfism-Cleft Palate-Camptodactyly Syndrome	Abnormal epiphysis morphology, Elbow dislocation, Retrognathia, Camptodactyly of finger, Low-set,...	ORPHA:2631
Acro-Renal-Ocular Syndrome	Short distal phalanx of the thumb, Toe syndactyly, Finger syndactyly, Radial club hand, Renal hyp...	ORPHA:959
Diamond-Blackfan Anemia 11	Finger aplasia, Unilateral renal agenesis, Absent thumb, Unilateral radial aplasia, Atresia of th...	OMIM:614900
Acrofacial Dysostosis 1, Nager Type	Low-set ears, Toe syndactyly, Clinodactyly, Atresia of the external auditory canal, Overlapping t...	OMIM:154400
Jeune Syndrome	Nephropathy, Abnormal pelvic girdle bone morphology, Toe syndactyly, Postaxial foot polydactyly, ...	ORPHA:474
Cerebellar-Facial-Dental Syndrome	Wide nasal bridge, Macrodontia of permanent maxillary central incisor, Low-set ears, Dental maloc...	ORPHA:444072
Short-Rib Thoracic Dysplasia 17 With Or Without Polydactyly	Narrow chest, Postaxial foot polydactyly, Acetabular spurs, Horizontal ribs, Short ribs, Brachyda...	OMIM:617405
Atelosteogenesis Type Iii	Hand clenching, Absent humerus, Elbow dislocation, Short tibia, Fibular aplasia, Micrognathia, Ta...	ORPHA:56305
Eiken Syndrome	Abnormal fingertip morphology, Epiphyseal dysplasia, Delayed epiphyseal ossification, High iliac ...	ORPHA:79106
Spondyloepimetaphyseal Dysplasia, Irapa Type	Platyspondyly, Broad femoral neck, Hypoplastic sacrum, Upper limb undergrowth, Lumbar hyperlordos...	OMIM:271650
Meier-Gorlin Syndrome 2	Slender long bone, Tracheomalacia, Patellar aplasia, Joint hypermobility, Microcephaly, Camptodac...	OMIM:613800
Spondylo-Megaepiphyseal-Metaphyseal Dysplasia	Long hallux, Hypoplastic iliac wing, Genu valgum, Delayed pubic bone ossification, Talipes equino...	OMIM:613330
Syndactyly Type 4	Toe syndactyly, Short tibia, Camptodactyly of finger, Hand polydactyly, Triphalangeal thumb, Foot...	ORPHA:93405
Gracile Bone Dysplasia	Thin ribs, Slender long bone, Flared metaphysis, Failure to thrive, Brachydactyly, Micropenis, As...	OMIM:602361
Fibular Aplasia-Ectrodactyly Syndrome	Aplasia/Hypoplasia of the fibula, Split hand, Abnormal morphology of ulna	ORPHA:1118
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 5	Microcolon, Hepatic failure, Hydroureter, Megacystis, Intestinal malrotation, Portal hypertension...	OMIM:619431
Carpenter Syndrome	Broad thumb, Toe syndactyly, Finger syndactyly, Polysplenia, Umbilical hernia, Preaxial foot poly...	ORPHA:65759
Fibrochondrogenesis 2	Platyspondyly, Hypoplastic ilia, Metaphyseal cupping, Thoracic hypoplasia, Anteverted nares, Bell...	OMIM:614524
Humeroradial Synostosis	Small earlobe, Microtia	OMIM:236400
Bladder Exstrophy And Epispadias Complex	Unilateral renal agenesis, Hydroureter, Horseshoe kidney, Bladder exstrophy, Epispadias	OMIM:600057
Osteogenesis Imperfecta	Thin ribs, Carious teeth, Hearing impairment, Abnormal tibia morphology, Enlarged vertebral pedic...	ORPHA:666
Adenine Phosphoribosyltransferase Deficiency	Oliguria, Urolithiasis, Renal insufficiency, 2,8-dihydroxyadenine crystalluria, Nephrolithiasis, ...	OMIM:614723
Frontometaphyseal Dysplasia 1	Broad phalanges of the hand, Hearing impairment, Partial fusion of carpals, Carpal synostosis, Ge...	OMIM:305620
Cooper-Jabs Syndrome	Conductive hearing impairment, Atresia of the external auditory canal, Frontal bossing, Camptodac...	ORPHA:1488
Distal Deletion 9P	Aplasia/Hypoplasia of the earlobes, Abnormal helix morphology, Enlarged thorax, Low-set, posterio...	ORPHA:1642
Vacterl Association, X-Linked, With Or Without Hydrocephalus	Abnormal vertebral morphology, Abnormality of the vertebral column, Short humerus, Hydronephrosis...	OMIM:314390
Monosomy 5P	Wide nasal bridge, Microretrognathia, Low-set, posteriorly rotated ears, Recurrent fractures, Joi...	ORPHA:281
Kyphomelic Dysplasia	Radial bowing, Micromelia, Flared metaphysis, Dumbbell-shaped humerus, Micrognathia, Femoral bowi...	OMIM:211350
Hallermann-Streiff Syndrome	Thin ribs, Abnormal rib cage morphology, Decreased number of sternal ossification centers, Low-se...	OMIM:234100
Langer Mesomelic Dysplasia	Ulnar deviation of finger, Abnormal epiphysis morphology, Micromelia, Mesomelic/rhizomelic limb s...	ORPHA:2632
Heart-Hand Syndrome Type 2	Asymmetry of the thorax, Aplasia/Hypoplasia of the radius, Abnormal clavicle morphology, Micromel...	ORPHA:1350
Radial Hemimelia	Aplasia/Hypoplasia of the radius, Deviation of the hand or of fingers of the hand, Abnormality of...	ORPHA:93321
Robin Sequence With Cleft Mandible And Limb Anomalies	Short tibia, Cleft mandible, Micrognathia, Talipes equinovarus, Short hallux, Small thenar eminen...	OMIM:268305
Faciocardiomelic Syndrome	Depressed nasal bridge, Narrow chest, Dental malocclusion, Slender long bone, Hyperplasia of the ...	OMIM:612731
Tetraploidy	Hypoplasia of the ear cartilage, Radial club hand, Micrognathia, Microcephaly, Convex nasal ridge...	ORPHA:3305
Kdm5C-Related Syndromic X-Linked Intellectual Disability	Hypoplasia of the maxilla, Camptodactyly of finger, Prominent nasal bridge, Protruding ear, Micro...	ORPHA:85279
Spondylocostal Dysostosis 3, Autosomal Recessive	Slender finger, Hypoplasia of the odontoid process, Contracture of the proximal interphalangeal j...	OMIM:609813
Rhizomelic Skeletal Dysplasia With Or Without Pelger-Huet Anomaly	Radial bowing, Genu valgum, Thoracolumbar scoliosis, Metaphyseal dysplasia, Ovoid vertebral bodie...	OMIM:618019
Distal Triplication 15Q	Low-set ears, Abnormal helix morphology, Dilatation of the renal pelvis, Retrognathia, Abnormal s...	ORPHA:314588
Mesomelic Dysplasia, Savarirayan Type	Short forearm, Short tibia, Mesomelic leg shortening, Fibular aplasia, Limited elbow extension an...	OMIM:605274
Dysspondyloenchondromatosis	Platyspondyly, Anisospondyly, Joint dislocation, Abnormal ulnar metaphysis morphology, Genu valgu...	ORPHA:85198
3-Hydroxyisobutyric Aciduria	Microcephaly, Micrognathia, Microtia	ORPHA:939
Renal Hypoplasia	Chronic kidney disease, Unilateral renal agenesis, Glomerulomegaly, Recurrent urinary tract infec...	ORPHA:93101
Macdermot-Winter Syndrome	Camptodactyly of finger, Hydronephrosis, Microcephaly, Posteriorly rotated ears, Macrotia	OMIM:247990
Micrognathia-Recurrent Infections-Behavioral Abnormalities-Mild Intellectual Disability Syndrome	Kyphosis, Unilateral radial aplasia, Eruption failure, Failure to thrive, Secondary microcephaly,...	ORPHA:476126
White Forelock With Malformations	Finger syndactyly, Low-set, posteriorly rotated ears, Joint hypermobility, Spina bifida occulta, ...	ORPHA:2475
Bardet-Biedl Syndrome 12	Postaxial foot polydactyly, Hydroureter, Hydrometrocolpos, Hypogonadism, Polydactyly, Hydronephro...	OMIM:615989
Pseudoachondroplasia	Delayed epiphyseal ossification, Hypoplasia of the odontoid process, Genu valgum, Wind-swept defo...	ORPHA:750
Proximal 16P11.2 Microduplication Syndrome	Decreased body mass index, Failure to thrive, Arachnodactyly, Microcephaly, Hemivertebrae, Microp...	ORPHA:370079
Cerebellar Dysfunction With Variable Cognitive And Behavioral Abnormalities	Low-set ears, Flared nostrils, Short ear, Bulbous nose, Anteverted nares, Micrognathia, Protrudin...	OMIM:614756
Ulnar Agenesis And Endocardial Fibroelastosis	Finger aplasia, Aplasia of the ulna	OMIM:276822
Alagille Syndrome 1	Low-set ears, Cholestasis, Cirrhosis, Duplicated collecting system, Long nose, Renal dysplasia, M...	OMIM:118450
Acromesomelic Dysplasia 1	Radial bowing, Long hallux, Beaking of vertebral bodies, Broad phalanx, Cone-shaped epiphyses of ...	OMIM:602875
Atrioventricular Defect-Blepharophimosis-Radial And Anal Defect Syndrome	Wide nasal bridge, Cupped ear, Micrognathia, Hearing abnormality, Aplasia/Hypoplasia of the thumb...	ORPHA:1352
Lower Limb Malformation-Hypospadias Syndrome	Abnormal tibia morphology, Abnormality of the ureter, Abnormality of the spleen, Hypospadias	ORPHA:2487
Microcephaly-Cervical Spine Fusion Anomalies Syndrome	Low-set ears, Abnormal clavicle morphology, Abnormal hip bone morphology, Microcephaly, Short nec...	ORPHA:2522
Diabetes Insipidus, Neurohypophyseal	Osteopenia, Short nose, Wide nose	OMIM:125700
Mucopolysaccharidosis Type 4	Carious teeth, Hearing impairment, Genu valgum, Bowing of the long bones, Short neck, Pectus cari...	ORPHA:582
Hypertelorism-Microtia-Facial Clefting Syndrome	Bifid nasal tip, Conductive hearing impairment, Atresia of the external auditory canal, Microceph...	ORPHA:2213
Intellectual Developmental Disorder With Dysmorphic Facies And Behavioral Abnormalities	Low-set ears, Small hand, Plagiocephaly, Sandal gap, Clinodactyly, Microcephaly, Macrocephaly, Sh...	OMIM:618089
Vater/Vacterl Association	Abnormal vertebral morphology, Radioulnar synostosis, Absent radius, Abnormal nasopharynx morphol...	OMIM:192350
Intellectual Disability-Hypoplastic Corpus Callosum-Preauricular Tag Syndrome	Camptodactyly of finger, Micrognathia, Protruding ear, Microcephaly, Short nose	ORPHA:1495
Seckel Syndrome 1	Ivory epiphyses, Low-set ears, Micrognathia, Dislocated radial head, Hypospadias, Cone-shaped epi...	OMIM:210600
Early-Onset Seizures-Distal Limb Anomalies-Facial Dysmorphism-Global Developmental Delay Syndrome	Low-set ears, Broad thumb, Toe syndactyly, Retrognathia, Failure to thrive, Hearing impairment, M...	ORPHA:505237
Bladder Dysfunction, Autonomic, With Impaired Pupillary Reflex And Secondary Cakut	Recurrent urinary tract infections, Stage 2 chronic kidney disease, Vesicoureteral reflux, Hydron...	OMIM:191800
Atelosteogenesis, Type Iii	Depressed nasal bridge, Rhizomelia, Cervical kyphosis, Tombstone-shaped proximal phalanges, Elbow...	OMIM:108721
Achondrogenesis, Type Ia	Low-set ears, Unossified vertebral bodies, Hypoplastic scapulae, Hypoplastic nasal bridge, Abnorm...	OMIM:200600
Dyggve-Melchior-Clausen Disease	Epiphyseal dysplasia, Hypoplasia of the odontoid process, Genu valgum, Short neck, Beaking of ver...	ORPHA:239
Deafness-Ear Malformation-Facial Palsy Syndrome	Aplasia/Hypoplasia of the earlobes, Hypoplasia of the antihelix, Conductive hearing impairment, A...	ORPHA:3232
Mesomelic Dysplasia, Kantaputra Type	Ulnar deviation of finger, Abnormality of the ankle, Synostosis of carpal bones, Abnormality of t...	ORPHA:1836
Phaver Syndrome	Low-set ears, Aplasia/Hypoplasia of the earlobes, Ulnar deviation of finger, Broad thumb, Conduct...	ORPHA:2876
Neurodevelopmental Disorder With Brain Anomalies, Seizures, And Scoliosis	Low-set ears, Depressed nasal bridge, Slender long bone, Posteriorly rotated ears, Pectus excavat...	OMIM:618590
Sillence Syndrome	Abnormal vertebral morphology, Broad thumb, Intervertebral disk degeneration, Flat acetabular roo...	ORPHA:3168
Dyggve-Melchior-Clausen Disease	Hypoplastic scapulae, Hypoplasia of the odontoid process, Hypoplastic iliac wing, Genu valgum, Ba...	OMIM:223800
Marshall-Smith Syndrome	Low-set ears, Atlantoaxial dislocation, Hypoplasia of the odontoid process, Bilateral conductive ...	OMIM:602535
Lipodystrophy-Intellectual Disability-Deafness Syndrome	Failure to thrive, Dense metaphyseal bands, Slender build, Sensorineural hearing impairment, Slen...	ORPHA:50811
8Q22.1 Microdeletion Syndrome	Low-set ears, Depressed nasal ridge, Wide nasal bridge, Hypoplasia of the maxilla, Limitation of ...	ORPHA:178303
Mesomelia-Synostoses Syndrome	Synostosis of carpal bones, Abnormal tibia morphology, Micrognathia, Genu valgum, Abnormal metaca...	ORPHA:2496
Brachydactyly-Elbow Wrist Dysplasia Syndrome	Aplasia/Hypoplasia of the radius, Synostosis of carpal bones, Elbow dislocation, Abnormal distal ...	ORPHA:1275
Pallister-Hall Syndrome	Toe syndactyly, Postaxial foot polydactyly, Distal shortening of limbs, Cryptorchidism, Ectopic k...	OMIM:146510
Microcephalic Primordial Dwarfism, Dauber Type	Prominent nose, Subglottic stenosis, Obesity, Madelung deformity, Lumbar scoliosis, Microcephaly,...	ORPHA:319675
Contractures-Developmental Delay-Pierre Robin Syndrome	Short thumb, Underdeveloped nasal alae, Overlapping toe, Micrognathia, Abnormal columella morphol...	ORPHA:436003
Kagami-Ogata Syndrome	Thin ribs, Depressed nasal bridge, Hypoplasia of the maxilla, Retrognathia, Anteverted nares, Bel...	OMIM:608149
Congenital Disorder Of Glycosylation, Type Ig	Small scrotum, Rhizomelia, Recurrent pneumonia, Recurrent upper respiratory tract infections, Sho...	OMIM:607143
Saethre-Chotzen Syndrome	Low-set ears, Broad thumb, Finger syndactyly, Hearing impairment, Prominent crus of helix, Delaye...	ORPHA:794
Bent Bone Dysplasia Syndrome 2	Thin ribs, Short tibia, Hypoplastic iliac wing, Talipes equinovarus, Short neck, Hepatomegaly, Sh...	OMIM:620076
46,Xx Difference Of Sex Development-Anorectal Anomalies Syndrome	Multicystic kidney dysplasia, Aplasia/Hypoplasia of the radius, Hydroureter, Abnormality of the u...	ORPHA:2973
Tarp Syndrome	Low-set ears, Clinodactyly, Micrognathia, Talipes equinovarus, Bilateral talipes equinovarus, Pos...	OMIM:311900
Intellectual Developmental Disorder With Speech Delay And Dysmorphic Facies	Low-set ears, Anteverted nares, Delayed eruption of permanent teeth, Microcephaly, Posteriorly ro...	OMIM:618506
Laurin-Sandrow Syndrome	Depressed nasal ridge, Toe syndactyly, Finger syndactyly, Mirror image polydactyly, Preaxial hand...	ORPHA:2378
Spondylometaphyseal Dysplasia, A4 Type	Platyspondyly, Limitation of joint mobility, Micromelia, Flared, irregular rib ends, Coxa vara, S...	ORPHA:168555
Pseudoachondroplasia	Delayed epiphyseal ossification, Atlantoaxial dislocation, Hypoplasia of the odontoid process, Ra...	OMIM:177170
Short Stature, Onychodysplasia, Facial Dysmorphism, And Hypotrichosis	Low-set ears, Small hand, Clinodactyly, Short foot, Short metacarpal, Cone-shaped epiphysis, Broa...	OMIM:614813
Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, And Genital Anomalies	Low-set ears, Osteopenia, Depressed nasal bridge, Macrocephaly, Craniosynostosis, Short nose	OMIM:614732
Fibrochondrogenesis 1	Thin ribs, Low-set ears, Joint contracture of the hand, Hypoplastic scapulae, Small hand, Broad l...	OMIM:228520
Spondylometaphyseal Dysplasia, Sedaghatian Type	Platyspondyly, Narrow chest, Cone-shaped epiphysis, Abnormal scapula morphology, Rhizomelic arm s...	ORPHA:93317
Intellectual Developmental Disorder With Macrocephaly, Seizures, And Speech Delay	Microtia	OMIM:618158
Neurodevelopmental Disorder With Speech Impairment And Dysmorphic Facies	Low-set ears, Hearing impairment, Anteverted nares, Wide nose, Joint hypermobility, Macrocephaly,...	OMIM:619056
Recombinant Chromosome 8 Syndrome	Low-set ears, Depressed nasal bridge, Joint contracture of the hand, Hearing impairment, Secondar...	OMIM:179613
Brachydactyly, Type A1, C	Short distal phalanx of finger, Short 1st metacarpal, Short middle phalanx of the 2nd finger, Fib...	OMIM:615072
Autosomal Dominant Brachyolmia	Platyspondyly, Increased vertebral height, Kyphoscoliosis, Short thorax, Abnormal metaphysis morp...	ORPHA:93304
Ehlers-Danlos Syndrome, Periodontal Type, 2	Atypical scarring of skin, Periodontitis, Umbilical hernia, Inguinal hernia, Nephroblastoma, Prom...	OMIM:617174
Imperforate Oropharynx-Costovertebral Anomalies Syndrome	Low-set ears, Abnormal form of the vertebral bodies, Overfolded helix, Joint hypermobility, Arach...	ORPHA:2759
Testicular Anomalies With Or Without Congenital Heart Disease	Microphallus, Tetralogy of Fallot, Corpus cavernosum hypoplasia, Cryptorchidism, Inguinal hernia,...	OMIM:615542
W Syndrome	Depressed nasal bridge, Broad nasal tip, Radial bowing, Elbow dislocation, Clinodactyly, Cubitus ...	ORPHA:2804
Metaphyseal Dysostosis, Impaired Intellectual Development, And Conductive Deafness	Recurrent otitis media, Genu valgum, Carpal bone hypoplasia, Broad phalanx, Metaphyseal dysplasia...	OMIM:250420
Greig Cephalopolysyndactyly Syndrome	Joint contracture of the hand, Postaxial foot polydactyly, Broad thumb, Y-shaped metatarsals, Bro...	OMIM:175700
Intellectual Developmental Disorder, Autosomal Dominant 1	Low-set ears, Secondary microcephaly, Micrognathia, Short foot, Short nose, Depressed nasal ridge...	OMIM:156200
Autosomal Recessive Distal Osteolysis Syndrome	Hypoplasia of the maxilla, Broad nasal tip, Osteolysis	ORPHA:2776
Hypochondroplasia	Abnormal pelvic girdle bone morphology, Abnormal form of the vertebral bodies, Short toe, Spinal ...	ORPHA:429
Fatty Acyl-Coa Reductase 1 Deficiency	Depressed nasal bridge, Progressive microcephaly, Macrotia, Short nose	ORPHA:438178
Frontometaphyseal Dysplasia	Joint contracture of the hand, Short distal phalanx of the thumb, Broad thumb, Hearing impairment...	ORPHA:1826
Image Syndrome	Micromelia, Hypogonadism, Cryptorchidism, Hydronephrosis, Metaphyseal dysplasia, Hypospadias	ORPHA:85173
Spondylometaphyseal Dysplasia, Axial	Platyspondyly, Rhizomelia, Narrow chest, Thoracic hypoplasia, Proximal femoral metaphyseal irregu...	OMIM:602271
Chondrodysplasia Punctata 1, X-Linked Recessive	Depressed nasal bridge, Anosmia, Hearing impairment, Epiphyseal stippling, Microcephaly, Short na...	OMIM:302950
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 3	Hydronephrosis, Hydroureter, Fetal megacystis	OMIM:619362
Fibrochondrogenesis	Low-set ears, Hypoplastic scapulae, Plagiocephaly, Narrow chest, Micromelia, Abnormal diaphysis m...	ORPHA:2021
Mandibulofacial Dysostosis With Alopecia	Low-set ears, Wide nasal bridge, Hypoplasia of the maxilla, Cupped ear, Conductive hearing impair...	OMIM:616367
Neurodevelopmental Disorder With Seizures, Spasticity, And Complete Or Partial Agenesis Of The Corpus Callosum	Wide nasal bridge, Retrognathia, Hearing impairment, Macrotia, Thoracic kyphosis, Micrognathia, O...	OMIM:620250
Mosaic Trisomy 8	Hearing impairment, Micrognathia, Patellar aplasia, Abnormal antihelix morphology, Short neck, Ab...	ORPHA:96061
Distal Duplication 14Q	Abnormality of the upper urinary tract, Patent ductus arteriosus, Abnormal aortic morphology, Abn...	ORPHA:1705
Lujan-Fryns Syndrome	Low-set ears, Hypoplasia of the maxilla, Camptodactyly of finger, Prominent nasal bridge, Microgn...	ORPHA:776
Blount Disease	Abnormality of the proximal tibial epiphysis, Abnormal tibial metaphysis morphology, Tibial bowin...	ORPHA:2768
Cortical Dysplasia, Complex, With Other Brain Malformations 15	Protruding ear, Bulbous nose, Hypoplasia of the maxilla, Progressive microcephaly	OMIM:618737
Axial Spondylometaphyseal Dysplasia	Abnormal ilium morphology, Hypoplastic iliac wing, Abnormal metacarpal morphology, Flat acetabula...	ORPHA:168549
Developmental And Epileptic Encephalopathy 73	Narrow nasal bridge, Sensorineural hearing impairment, Microcephaly, Flexion contracture, Short nose	OMIM:618379
Spondyloepiphyseal Dysplasia Tarda, Kohn Type	Platyspondyly, Abnormal ilium morphology, Abnormal vertebral morphology, Abnormality of the ankle...	ORPHA:163665
Multiple Epiphyseal Dysplasia Type 5	Multiple small vertebral fractures, Arthralgia of the hip, Abnormality of the epiphyses of the fe...	ORPHA:93311
Hemifacial Microsomia With Radial Defects	Conductive hearing impairment, Atresia of the external auditory canal, Triphalangeal thumb, Compl...	OMIM:141400
Odontochondrodysplasia 1	Flat acetabular roof, Polycystic kidney dysplasia, Cone-shaped epiphyses of the phalanges of the ...	OMIM:184260
Prominent Glabella-Microcephaly-Hypogenitalism Syndrome	Underdeveloped nasal alae, Camptodactyly of finger, Macrotia, Micrognathia, Prominent nasal bridg...	ORPHA:2083
Melnick-Needles Syndrome	Hypoplastic scapulae, Delayed cranial suture closure, Recurrent otitis media, Genu valgum, Microg...	OMIM:309350
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome	Short 5th finger, Toe clinodactyly, Bulbous tips of toes, Broad skull, 2-3 toe syndactyly, Microc...	ORPHA:163979
Mucopolysaccharidosis, Type Iva	Constricted iliac wing, Hypoplasia of the odontoid process, Carious teeth, Hearing impairment, Ge...	OMIM:253000
Nager Syndrome	Unilateral renal agenesis, Hypoplasia of the maxilla, Aplasia/Hypoplasia of the radius, Hypoplasi...	ORPHA:245
Polydactyly, Postaxial, Type A7	Short fifth metatarsal, Postaxial hand polydactyly, Postaxial foot polydactyly, 2-3 toe cutaneous...	OMIM:617642
Boomerang Dysplasia	Narrow chest, Finger syndactyly, Micromelia, Abnormal tibia morphology, Abnormal femur morphology...	ORPHA:1263
Laurin-Sandrow Syndrome	Underdeveloped nasal alae, Patellar aplasia, Hand polydactyly, Triphalangeal thumb, Absent tibia,...	OMIM:135750
Beta-Mercaptolactate Cysteine Disulfiduria	Hypoplasia of the ear cartilage, Micromelia, Sandal gap, Low-set, posteriorly rotated ears, Abnor...	ORPHA:1035
Mckusick-Kaufman Syndrome	Congenital hip dislocation, Pulmonary hypoplasia, Hydroureter, Vesicovaginal fistula, Hydrometroc...	OMIM:236700
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome	Wide nasal bridge, Depressed nasal bridge, Nephrocalcinosis, Abnormality of the urinary system, L...	ORPHA:369837
Femoral-Facial Syndrome	Toe syndactyly, Micrognathia, Encephalocele, Humeroradial synostosis, Cryptorchidism, Limited elb...	OMIM:134780
Spondyloepimetaphyseal Dysplasia, Sponastrime Type	Genu valgum, Narrow vertebral interpedicular distance, Lumbar interpedicular narrowing, Genu varu...	OMIM:271510
Ghosal Hematodiaphyseal Dysplasia	Abnormal pelvic girdle bone morphology, Abnormal form of the vertebral bodies, Abnormal tibia mor...	ORPHA:1802
Metaphyseal Dysplasia With Maxillary Hypoplasia With Or Without Brachydactyly	Platyspondyly, Multiple small vertebral fractures, Hypoplasia of the maxilla, Flared metaphysis, ...	OMIM:156510
Chondrodysplasia Punctata, Tibia-Metacarpal Type	Short 3rd metacarpal, Short tibia, Micromelia, Epiphyseal stippling, Short 4th metacarpal, Limb u...	OMIM:118651
Joubert Syndrome 37	Wide nasal bridge, Low-set ears, Lumbar hyperlordosis, Anteverted nares, Wide nose, Obesity, Post...	OMIM:619185
Bardet-Biedl Syndrome 19	Renal hypoplasia, Postaxial foot polydactyly, Hypogonadism, Mesoaxial hand polydactyly, External ...	OMIM:615996
Osteogenesis Imperfecta, Type Ix	Platyspondyly, Pectus carinatum, Kyphosis, Bowing of limbs due to multiple fractures, Decreased c...	OMIM:259440
Intellectual Disability, Buenos-Aires Type	Wide nasal bridge, Pectus carinatum, Cuboid-shaped thoracolumbar vertebral bodies, Abnormal pelvi...	ORPHA:3079
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 3	Unilateral renal agenesis, Bilateral renal agenesis, Anomalous origin of left coronary artery fro...	OMIM:618845
Otopalatodigital Syndrome Type 2	Low-set ears, Synostosis of carpal bones, Elbow dislocation, Hearing impairment, Carpal synostosi...	ORPHA:90652
Trisomy 1Q	Small scrotum, Multicystic kidney dysplasia, Toe syndactyly, Microretrognathia, Camptodactyly of ...	ORPHA:261344
Van Maldergem Syndrome 1	Clinodactyly, Atresia of the external auditory canal, Cutaneous finger syndactyly, Micrognathia, ...	OMIM:601390
Baller-Gerold Syndrome	Lambdoidal craniosynostosis, Abnormal vertebral morphology, Low-set ears, Carpal synostosis, Micr...	OMIM:218600
Otospondylomegaepiphyseal Dysplasia	Abnormal vertebral morphology, Epiphyseal dysplasia, Abnormal joint morphology, Fibular bowing, M...	ORPHA:1427
Larsen-Like Osseous Dysplasia-Short Stature Syndrome	Abnormal pelvic girdle bone morphology, Abnormal form of the vertebral bodies, Low-set, posterior...	ORPHA:2370
Endove Syndrome, Limb-Brain Type	Toe syndactyly, Talar aplasia, Recurrent urinary tract infections, Umbilical hernia, Osteomyeliti...	OMIM:619218
Cardiomyopathy, Dilated, With Hypergonadotropic Hypogonadism	Osteopenia, Recurrent shoulder dislocation, Down-sloping shoulders, Short clavicles, Finger joint...	OMIM:212112
Chromosome 6Q11-Q14 Deletion Syndrome	Low-set ears, Broad nasal tip, Prominent nasal bridge, Micrognathia, Joint hypermobility, Microce...	OMIM:613544
Hand-Foot-Genital Syndrome	Short distal phalanx of finger, Shortening of all middle phalanges of the fingers, Hypospadias, S...	ORPHA:2438
Familial Visceral Myopathy	Hyperparathyroidism, Hydroureter, Megacystis, Camptodactyly of finger, Umbilical hernia, Abdomina...	ORPHA:2604
Zechi-Ceide Syndrome	Low-set ears, Short distal phalanx of finger, Abnormal helix morphology, Conductive hearing impai...	ORPHA:217017
Fanconi Anemia, Complementation Group O	Absent thumb, Short thumb, External genital hypoplasia, Stage 5 chronic kidney disease, Cryptorch...	OMIM:613390
Ophthalmomandibulomelic Dysplasia	Radioulnar dislocation, Lateral humeral condyle aplasia, Radial bowing, Elbow dislocation, Tempor...	OMIM:164900
Acropectorovertebral Dysplasia	Abnormal vertebral morphology, Toe syndactyly, Synostosis of carpal bones, Spina bifida occulta a...	OMIM:102510
Hypo- And Hypermelanotic Cutaneous Macules-Retarded Growth-Intellectual Disability Syndrome	Microcephaly, Abnormal rib morphology	ORPHA:2435
Radio-Renal Syndrome	Depressed nasal bridge, Multicystic kidney dysplasia, Abnormal form of the vertebral bodies, Micr...	ORPHA:3015
Congenital Myopathy 19	Low-set ears, Depressed nasal ridge, Hearing impairment, Bell-shaped thorax, Renal atrophy, Micro...	OMIM:618578
Van Maldergem Syndrome 2	Clinodactyly, Hearing impairment, Atresia of the external auditory canal, Cutaneous finger syndac...	OMIM:615546
Spondyloepimetaphyseal Dysplasia, Strudwick Type	Platyspondyly, Pectus carinatum, Hypoplasia of the odontoid process, Scoliosis, Clinodactyly, Gen...	OMIM:184250
Fibular Aplasia, Tibial Campomelia, And Oligosyndactyly Syndrome	Finger aplasia, Short tibia, Foot oligodactyly, Fibular aplasia, Tibial bowing, Abnormality of th...	OMIM:246570
Short Syndrome	Wide nasal bridge, Low-set ears, Dental malocclusion, Radial deviation of finger, Slender long bo...	OMIM:269880
20Q11.2 Microduplication Syndrome	Wide nasal bridge, Pectus carinatum, Depressed nasal bridge, Retrognathia, Low-set, posteriorly r...	ORPHA:363659
Hypouricemia, Renal, 1	Acute kidney injury, Oliguria, Renal cortical hyperechogenicity, Urolithiasis, Proteinuria, Hyper...	OMIM:220150
Fibrodysplasia Ossificans Progressiva	Abnormal vertebral morphology, Synostosis of joints, Failure to thrive, Hearing impairment, Abnor...	ORPHA:337
Toe Syndactyly, Telecanthus, And Anogenital And Renal Malformations	Peripheral pulmonary artery stenosis, Hypoplasia of the bladder, Hydroureter, Toe syndactyly, Cli...	OMIM:300707
Achondrogenesis	Abnormal enchondral ossification, Anteverted nares, Micrognathia, Macrocephaly, Abnormality of bo...	ORPHA:932
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type	Thin ribs, Low-set ears, Metaphyseal cupping of metacarpals, Rhizomelia, Platyspondyly, Abnormali...	ORPHA:163966
Intellectual Developmental Disorder, X-Linked, Syndromic, Wilson-Turner Type	Pes cavus, Cryptorchidism, Pes planus, Short foot, Tapered finger	OMIM:309585
Perlman Syndrome	Low-set ears, Wide nasal bridge, Retrognathia, Anteverted nares, Micrognathia, Macrocephaly, Thic...	ORPHA:2849
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects	Enlarged metaphyses, Low-set ears, Genu valgum, Micrognathia, Radioulnar synostosis, Short neck, ...	OMIM:245600
Spondylometaphyseal Dysplasia, Kozlowski Type	Hypoplasia of the odontoid process, Carpal bone hypoplasia, Short neck, Irregular capital femoral...	OMIM:184252
19P13.3 Microduplication Syndrome	Low-set ears, Clinodactyly, Underdeveloped nasal alae, Prominent nose, Micrognathia, Kyphoscolios...	ORPHA:447980
Spondyloepimetaphyseal Dysplasia, Genevieve Type	Platyspondyly, Depressed nasal bridge, Short femoral neck, Flared metaphysis, Irregular epiphyses...	OMIM:610442
X-Linked Intellectual Disability, Porteous Type	Hypoplasia of the maxilla, Cupped ear, Bulbous nose, Mandibular prognathia, Macrotia	ORPHA:93945
Cat-Eye Syndrome	Hearing impairment, Abnormal rib morphology, Renal hypoplasia/aplasia, Hydronephrosis, Hip dyspla...	ORPHA:195
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly	Low-set ears, Hypoplastic ilia, Narrow chest, Micromelia, Thoracic hypoplasia, Lateral clavicle h...	OMIM:617895
Split-Hand/Foot Malformation With Long Bone Deficiency 1	Absent forearm, Patellar aplasia, Short hallux, Absent tibia, Split hand, Aplasia/Hypoplasia of t...	OMIM:119100
6P22 Microdeletion Syndrome	Low-set ears, Finger syndactyly, Clinodactyly, Hearing impairment, Hydronephrosis, Short neck, Ov...	ORPHA:251046
Holzgreve Syndrome	Low-set, posteriorly rotated ears, Joint stiffness, Abnormally ossified vertebrae, Turricephaly, ...	ORPHA:2167
Intellectual Developmental Disorder With Language Impairment And With Or Without Autistic Features	Broad nasal tip, Retrognathia, Malar flattening, Macrocephaly, Short nose	OMIM:613670
Ulbright-Hodes Syndrome	Thin ribs, Low-set ears, Fibular aplasia, Micrognathia, Humeroradial synostosis, Talipes equinova...	ORPHA:3404
Sweeney-Cox Syndrome	Low-set ears, Crumpled ear, Hearing impairment, Micrognathia, 2-5 finger cutaneous syndactyly, Up...	OMIM:617746
Isolated Klippel-Feil Syndrome	Hearing impairment, Abnormality of the vertebral column, Abnormal shoulder morphology, Cervical C...	ORPHA:2345
Spondyloepimetaphyseal Dysplasia, X-Linked, With Hypomyelinating Leukodystrophy	Thin ribs, Low-set ears, Hypoplasia of the odontoid process, Short neck, Anterior rib cupping, Fl...	OMIM:300232
X-Linked Intellectual Disability, Schimke Type	Ankle flexion contracture, Hearing impairment, Elbow flexion contracture, Failure to thrive in in...	ORPHA:85285
Tibial Hemimelia	Aplasia of the 2nd metacarpal, Short tibia, Hearing impairment, Radial club hand, Cutaneous finge...	ORPHA:93322
Thanatophoric Dysplasia, Type Ii	Small abnormally formed scapulae, Hypoplastic ilia, Narrow chest, Platyspondyly, Micromelia, Flar...	OMIM:187601
Craniofacial-Deafness-Hand Syndrome	Depressed nasal ridge, Depressed nasal bridge, Hypoplasia of the maxilla, Aplasia/Hypoplasia invo...	ORPHA:1529
Autosomal Recessive Spondylocostal Dysostosis	Finger syndactyly, Abnormal rib morphology, Camptodactyly of finger, Low-set, posteriorly rotated...	ORPHA:2311
Metaphyseal Dysostosis-Intellectual Disability-Conductive Deafness Syndrome	Conductive hearing impairment, Short femoral neck, Flared metaphysis, Short palm, Recurrent otiti...	ORPHA:2502
Kuskokwim Syndrome	Aplasia/Hypoplasia of the radius, Abnormal clavicle morphology, Abnormal form of the vertebral bo...	ORPHA:1149
Osteopathia Striata With Cranial Sclerosis	Low-set ears, Joint contracture of the hand, Multicystic kidney dysplasia, Natal tooth, Fibular a...	OMIM:300373
Oeis Complex	Absent scrotum, Cryptorchidism, Talipes equinovarus, Duplicated collecting system, Rectovaginal f...	OMIM:258040
Muscular Hypertonia, Lethal	Pneumonia, Umbilical hernia	OMIM:254120
Nabais Sa-De Vries Syndrome, Type 2	Low-set ears, Depressed nasal bridge, Multicystic kidney dysplasia, Failure to thrive in infancy,...	OMIM:618829
Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 1	Low-set ears, Macrotia, Micrognathia, Microcephaly, Joint contracture, Slender nose, Short nose	OMIM:615419
Microphthalmia, Lenz Type	Hypospadias, Hydroureter, Finger syndactyly, Abnormal clavicle morphology, Camptodactyly of finge...	ORPHA:568
Campomelic Dysplasia	Thin ribs, Delayed epiphyseal ossification, Hypoplastic scapulae, Carious teeth, Hypoplastic cerv...	OMIM:114290
Bazex-Dupré-Christol Syndrome	Abnormal finger morphology, Hypoplasia of the ear cartilage, Abnormal clavicle morphology, Macrotia	ORPHA:113
Osteogenesis Imperfecta, Type Ii	Platyspondyly, Thin ribs, Abnormal pelvic girdle bone morphology, Thoracic hypoplasia, Broad long...	OMIM:166210
Neurodevelopmental Disorder With Craniofacial Dysmorphism And Skeletal Defects	Low-set ears, Hand clenching, Elbow dislocation, Arachnodactyly, Radial head subluxation, Hypospa...	OMIM:620083
Fanconi Anemia	Aplasia/Hypoplasia of fingers, Toe syndactyly, Arteriovenous malformation, Finger syndactyly, Mic...	ORPHA:84
Ring Chromosome 12 Syndrome	Low-set ears, Symphalangism of the thumb, Clinodactyly, Lumbar hyperlordosis, Abnormal 5th finger...	ORPHA:1439
Greig Cephalopolysyndactyly Syndrome	Toe syndactyly, Postaxial foot polydactyly, Finger syndactyly, Broad thumb, Umbilical hernia, Pre...	ORPHA:380
Short-Rib Thoracic Dysplasia 20 With Polydactyly	Low-set ears, Narrow chest, Short tibia, Lateral clavicle hook, Preaxial polydactyly, Horizontal ...	OMIM:617925
Caudal Duplication	Abnormal penis morphology, Uterus didelphys, Myelomeningocele, Cryptorchidism, Renal hypoplasia/a...	ORPHA:1756
Microcephaly, Short Stature, And Limb Abnormalities	Patellar hypoplasia, 11 pairs of ribs, Patellar aplasia, Radioulnar synostosis, Microcephaly, Bra...	OMIM:617604
Grant Syndrome	Abnormality of the glenoid fossa, Abnormal pelvic girdle bone morphology, Narrow chest, Joint dis...	ORPHA:2097
Treacher Collins Syndrome 3	Conductive hearing impairment, Microtia	OMIM:248390
Pelviscapular Dysplasia	Hypoplastic ilia, Hypoplastic scapulae, Congenital hip dislocation, Abnormality of the joint spac...	ORPHA:93333
Codas Syndrome	Congenital hip dislocation, Abnormal pelvic girdle bone morphology, Hydroureter, Abnormal epiphys...	ORPHA:1458
Mandibulofacial Dysostosis, Guion-Almeida Type	Low-set ears, Choanal atresia, Conductive hearing impairment, Atresia of the external auditory ca...	OMIM:610536
Antenatal Multiminicore Disease With Arthrogryposis Multiplex Congenita	Low-set ears, Clinodactyly, Bell-shaped thorax, Short neck, Dolichocephaly, Flexion contracture, ...	ORPHA:178148
Ohdo Syndrome	Wide nasal bridge, Depressed nasal bridge, Hearing impairment, Stenosis of the external auditory ...	OMIM:249620
Cog1-Cdg	Posterior rib gap, Wide nasal bridge, Rhizomelia, Failure to thrive, Low-set, posteriorly rotated...	ORPHA:263508
Sheldon-Hall Syndrome	Wide nasal bridge, Ulnar deviation of finger, Aplasia/Hypoplasia of the radius, Abnormal hip bone...	ORPHA:1147
Ohdo Syndrome, X-Linked	Wide nasal bridge, Depressed nasal bridge, Narrow chest, Low-set ears, Clinodactyly, Short thumb,...	OMIM:300895
Epiphyseal Dysplasia, Baumann Type	Epiphyseal dysplasia, Ulnar deviation of finger, Carpal bone aplasia, Genu valgum, Hypoplasia of ...	OMIM:610797
Chromosome 1Q41-Q42 Deletion Syndrome	Low-set ears, Sandal gap, Trigonocephaly, Vertebral segmentation defect, Talipes equinovarus, Mic...	OMIM:612530
X-Linked Intellectual Disability, Van Esch Type	Coronal craniosynostosis, Retrognathia, Failure to thrive, Microcephaly, Clinodactyly of the 5th ...	ORPHA:163976
Lethal Kniest-Like Dysplasia	Low-set ears, Hypoplastic ilia, Narrow chest, Platyspondyly, Flared metaphysis, Broad long bones,...	ORPHA:2347
Craniodiaphyseal Dysplasia, Autosomal Dominant	Craniofacial hyperostosis, Craniofacial osteosclerosis, Hearing impairment, Cortical sclerosis, T...	OMIM:122860
Aminopterin Syndrome Sine Aminopterin	Joint contracture of the hand, Clinodactyly, Short thumb, Umbilical hernia, Micrognathia, Inguina...	OMIM:600325
Congenital Unilateral Hypoplasia Of Depressor Anguli Oris	Tetralogy of Fallot, Abnormal hip bone morphology, Micrognathia, Vesicoureteral reflux, Abnormal ...	ORPHA:1166
Intellectual Disability-Facial Dysmorphism-Hand Anomalies Syndrome	Short distal phalanx of finger, Short distal phalanx of the thumb, Short 3rd metacarpal, Short to...	ORPHA:370010
Growth Delay-Hydrocephaly-Lung Hypoplasia Syndrome	Radial bowing, Micrognathia, Splenomegaly, Tibial bowing, Lower limb undergrowth, Bowing of the l...	ORPHA:3035
Hyperparathyroidism, Transient Neonatal	Unilateral renal agenesis, Fractured rib, Hyperparathyroidism, Metaphyseal spurs, Umbilical herni...	OMIM:618188
Noonan Syndrome 9	Coarctation of aorta, Hydroureter, Cryptorchidism	OMIM:616559
X-Linked Intellectual Disability, Sutherland-Haan Type	Microcephaly, Hypoplasia of the maxilla, Mandibular prognathia, Macrotia	ORPHA:93950
Short-Rib Thoracic Dysplasia 15 With Polydactyly	Low-set ears, Depressed nasal bridge, Narrow chest, Cone-shaped epiphysis, Horseshoe kidney, Hori...	OMIM:617088
Ritscher-Schinzel Syndrome 1	Low-set ears, Depressed nasal bridge, Micrognathia, Missing ribs, Hydronephrosis, Hemivertebrae, ...	OMIM:220210
Acrorenal Syndrome	Aplasia/Hypoplasia of the radius, Abnormal tibia morphology, Micrognathia, Renal insufficiency, A...	ORPHA:971
Tibia, Hypoplasia Or Aplasia Of, With Polydactyly	Short tibia, Preaxial polydactyly, Triphalangeal thumb, Absent tibia, Fibular duplication	OMIM:188740
Greenberg Dysplasia	Platyspondyly, Rhizomelia, Narrow chest, Micromelia, Abnormal pelvis bone ossification, Abnormal ...	ORPHA:1426
Zaki Syndrome	Wide nasal bridge, Broad distal phalanx of finger, Toe syndactyly, Cupped ear, Renal agenesis, Ec...	OMIM:619648
Holt-Oram Syndrome	Broad thumb, Aplasia/Hypoplasia of the radius, Finger syndactyly, Absent thumb, Abnormal clavicle...	ORPHA:392
Schneckenbecken Dysplasia	Hypoplastic scapulae, Narrow vertebral interpedicular distance, Short neck, Anterior rib cupping,...	OMIM:269250
Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked	Low-set ears, Postaxial foot polydactyly, Hearing impairment, Overlapping fingers, Talipes equino...	OMIM:301056
Imagawa-Matsumoto Syndrome	Clinodactyly, Umbilical hernia, Long foot, Cryptorchidism, Large hands, Camptodactyly	OMIM:618786
Kniest Dysplasia	Delayed epiphyseal ossification, Recurrent otitis media, Hip contracture, Lumbar kyphoscoliosis, ...	OMIM:156550
Autosomal Dominant Spondylocostal Dysostosis	Short thorax, Abnormal sacrum morphology, Macrocephaly, Prominent occiput, Vertebral segmentation...	ORPHA:1797
Schilbach-Rott Syndrome	Prominent nose, Micrognathia, Microcephaly, Long nose, Posteriorly rotated ears, Microtia	OMIM:164220
Xy Type Gonadal Dysgenesis-Associated Anomalies Syndrome	Broad thumb, Umbilical hernia, Gonadal dysgenesis, Abnormality of the ureter, Bilateral single tr...	ORPHA:1770
Chondrodysplasia Punctata 2, X-Linked Dominant	Abnormal pelvic girdle bone morphology, Rhizomelia, Failure to thrive, Hearing impairment, Puncta...	OMIM:302960
Intellectual Disability-Myopathy-Short Stature-Endocrine Defect Syndrome	Craniofacial hyperostosis, Pectus carinatum, Limitation of joint mobility, Abnormal hip bone morp...	ORPHA:3068
Anauxetic Dysplasia 3	Platyspondyly, Broad middle phalanx of finger, Metaphyseal cupping, Narrow chest, Depressed nasal...	OMIM:618853
Radial-Renal Syndrome	Unilateral renal agenesis, Absent thumb, Absent radius, Ectopic kidney, Abnormal pinna morphology	OMIM:179280
Osteogenesis Imperfecta, Type Xvi	Platyspondyly, Osteopenia, Rhizomelia, Narrow chest, Conductive hearing impairment, Hearing impai...	OMIM:616229
Ptosis-Upper Ocular Movement Limitation-Absence Of Lacrimal Punctum Syndrome	Hypoplasia of the maxilla, Microretrognathia, Anteverted nares, Biparietal narrowing, Posteriorly...	ORPHA:228396
Hyperekplexia 4	Umbilical hernia, Inguinal hernia, Talipes equinovarus, Distal arthrogryposis, Adducted thumb, Ca...	OMIM:618011
Ventriculomegaly With Defects Of The Radius And Kidney	Absent thumb, Renal agenesis, Horseshoe kidney, Bowed forearm bones, Absent radius, Ureteral dupl...	OMIM:602200
X-Linked Intellectual Disability-Dysmorphism-Cerebral Atrophy Syndrome	Low-set ears, Finger clinodactyly, Supernumerary ribs, Bilateral talipes equinovarus, Osteoporosi...	ORPHA:2958
Duane Retraction Syndrome	Hearing impairment, Micrognathia, Sensorineural hearing impairment, Talipes equinovarus, Short ne...	ORPHA:233
Orofaciodigital Syndrome Type 10	Polysyndactyly of hallux, Radial deviation of the hand, Short tibia, Short toe, Preaxial polydact...	ORPHA:2756
Radial Hypoplasia-Triphalangeal Thumbs-Hypospadias-Maxillary Diastema Syndrome	Hypoplasia of the radius, Nonopposable triphalangeal thumb, Mandibular prognathia, Micromelia	ORPHA:2252
Neurodevelopmental Disorder With Impaired Language, Behavioral Abnormalities, And Dysmorphic Facies	Crumpled ear, Clinodactyly, Hearing impairment, Symphalangism of the thumb, Short toe, Bulbous no...	OMIM:620494
Omodysplasia 1	Rhizomelia, Short tibia, Limited knee flexion/extension, Umbilical hernia, Limited elbow flexion,...	OMIM:258315
Grant Syndrome	Wormian bones, Micrognathia, Tibial bowing, Down-sloping shoulders	OMIM:138930
Wolfram Syndrome 1	Hydroureter, Limited mobility of proximal interphalangeal joint, Stroke-like episode, Hydronephro...	OMIM:222300
Hennekam Lymphangiectasia-Lymphedema Syndrome 2	Hearing impairment, Syndactyly, Camptodactyly, Osteoporosis, Microtia	OMIM:616006
Multiple Epiphyseal Dysplasia Type 4	Low-set ears, Hypoplastic cervical vertebrae, Radial bowing, Abnormal earlobe morphology, Prematu...	ORPHA:93307
Fanconi Anemia, Complementation Group B	Abnormal vertebral morphology, Bilateral radial aplasia, Low-set ears, Absent thumb, Renal agenes...	OMIM:300514
Smith-Mccort Dysplasia 1	Hypoplastic scapulae, Hypoplasia of the odontoid process, Limitation of joint mobility, Genu valg...	OMIM:607326
Fetal Trimethadione Syndrome	Low-set ears, Depressed nasal bridge, Abnormal helix morphology, Micrognathia, Microcephaly, Over...	ORPHA:1913
Chondrodysplasia, Blomstrand Type	Abnormal vertebral morphology, Depressed nasal bridge, Narrow chest, Micromelia, Flared metaphysi...	OMIM:215045
Split-Hand/Foot Malformation 2	Finger syndactyly, Split hand, Short phalanx of finger, Short metacarpal, Split foot	OMIM:313350
Tetraamelia-Multiple Malformations Syndrome	Multicystic kidney dysplasia, Aplasia/Hypoplasia involving the nose, Aplasia/Hypoplasia involving...	ORPHA:3301
Spondylometaphyseal Dysplasia With Corneal Dystrophy	Depressed nasal bridge, Narrow chest, Coarse metaphyseal trabecularization, Thoracic platyspondyl...	OMIM:618961
Boomerang Dysplasia	Wide nasal bridge, Hypoplastic nasal septum, Underdeveloped nasal alae, Fibular aplasia, Hypoplas...	OMIM:112310
Microcephaly 13, Primary, Autosomal Recessive	Small hand, Metaphyseal sclerosis, Subglottic stenosis, Micrognathia, Prominent nose, Microcephal...	OMIM:616051
Cardiocranial Syndrome, Pfeiffer Type	Slender finger, Cutaneous syndactyly of toes, Plantar flexion contracture, Contracture of the pro...	ORPHA:2872
Hemifacial Atrophy, Progressive	Dental malocclusion, Delayed eruption of teeth, Kyphosis, Short mandibular rami, Microtia	OMIM:141300
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14	Hypoplastic scapulae, Abnormality of the costochondral junction, Short tibia, Thumb contracture, ...	ORPHA:96334
Achondroplasia	Radial bowing, Recurrent otitis media, Narrow vertebral interpedicular distance, Genu varum, Thor...	OMIM:100800
Epiphyseal Dysplasia, Multiple, 1	Epiphyseal dysplasia, Delayed epiphyseal ossification, Hip osteoarthritis, Broad femoral neck, Ir...	OMIM:132400
Kury-Isidor Syndrome	Low-set ears, Finger syndactyly, Recurrent otitis media, Anteverted nares, Hydronephrosis, Talipe...	OMIM:619762
Meier-Gorlin Syndrome 7	Low-set ears, Hearing impairment, Aplasia/Hypoplasia of the patella, Urethral stricture, Decrease...	OMIM:617063
Martsolf Syndrome 1	Low-set ears, Micrognathia, Talipes equinovarus, Broad fingertip, Finger joint hypermobility, Sho...	OMIM:212720
Hirschsprung Disease With Hypoplastic Nails And Dysmorphic Facial Features	Hydronephrosis	OMIM:235760
Hardikar Syndrome	Portal inflammation, Cholestasis, Hepatosplenomegaly, Cleft soft palate, Hypersplenism, Bilateral...	OMIM:301068
Coccidioidomycosis	Hearing impairment, Abnormality of the vertebral column, Broad ribs, Osteomyelitis, Abnormal long...	ORPHA:228123
Johnson Neuroectodermal Syndrome	Choanal atresia, Anosmia, Carious teeth, Conductive hearing impairment, Atresia of the external a...	ORPHA:2316
Trisomy 13	Low-set ears, Abnormal pelvic girdle bone morphology, Narrow chest, Abnormal helix morphology, Ab...	ORPHA:3378
Myhre Syndrome	Low-set ears, Clinodactyly, Hearing impairment, Hypoplastic iliac wing, Enlarged vertebral pedicl...	OMIM:139210
Rhizomelic Syndrome, Urbach Type	Short distal phalanx of finger, Hip dislocation, Rhizomelia, Abnormal epiphysis morphology, Abnor...	ORPHA:3098
Spondylometaphyseal Dysplasia, Pagnamenta Type	Platyspondyly, Rhizomelia, Broad thumb, Short 5th metacarpal, Femoral bowing, Wormian bones, Shor...	OMIM:619638
Klippel-Feil Syndrome 1, Autosomal Dominant	Conductive hearing impairment, Hearing impairment, Sensorineural hearing impairment, Cervical C2/...	OMIM:118100
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked	Low-set ears, Clinodactyly, Sensorineural hearing impairment, Absent frontal sinuses, Talipes equ...	OMIM:301040
Acromesomelic Dysplasia 2B	Deformed tarsal bones, Rhizomelia, Deviation of finger, Fibular aplasia, Malaligned carpal bone, ...	OMIM:228900
Au-Kline Syndrome	Chronic kidney disease, Dilatation of the renal pelvis, Overlapping toe, Sensorineural hearing im...	OMIM:616580
Thoracomelic Dysplasia	Abnormal pelvic girdle bone morphology, Narrow chest, Genu valgum, Bell-shaped thorax, Short ribs...	ORPHA:1803
Immunodeficiency, Common Variable, 6	Mesangial Immune complex deposition, Stage 5 chronic kidney disease, Hydronephrosis, Hepatomegaly...	OMIM:613496
Acromesomelic Dysplasia, Grebe Type	Synostosis of carpal bones, Short tibia, Micromelia, Short toe, Aplasia of the middle phalanges o...	ORPHA:2098
Thanatophoric Dysplasia, Type I	Platyspondyly, Small abnormally formed scapulae, Hypoplastic ilia, Narrow chest, Thoracic hypopla...	OMIM:187600
Spondylometaphyseal Dysplasia, 'Corner Fracture' Type	Abnormal vertebral morphology, Limitation of joint mobility, Clinodactyly, Hypoplastic iliac wing...	ORPHA:93315
Mesomelic Dysplasia, Nievergelt Type	Aplasia/Hypoplasia of the radius, Elbow dislocation, Finger syndactyly, Camptodactyly of finger, ...	ORPHA:2633
Orofaciodigital Syndrome Xv	Wide nasal bridge, Low-set ears, Broad hallux, Anteverted nares, Hydronephrosis, Duplication of p...	OMIM:617127
Spondylocarpotarsal Synostosis Syndrome	Epiphyseal dysplasia, Hypoplasia of the odontoid process, Carpal synostosis, C2-C3 subluxation, S...	OMIM:272460
Weiss-Kruszka Syndrome	Low-set ears, Abnormality of the outer ear, Hearing impairment, Prominent nasal tip, Short nose	ORPHA:502430
Diamond-Blackfan Anemia 14 With Mandibulofacial Dysostosis	Conductive hearing impairment, Atresia of the external auditory canal, Microtia	OMIM:300946
Faciodigitogenital Syndrome, Autosomal Recessive	Abnormal rib cage morphology, Dental malocclusion, Hearing impairment, Anteverted nares, Clinodac...	OMIM:227330
Mucopolysaccharidosis Type 6	Epiphyseal dysplasia, Recurrent upper respiratory tract infections, Failure to thrive, Hearing im...	ORPHA:583
Autism Spectrum Disorder Due To Auts2 Deficiency	Joint contracture of the hand, Congenital contracture, Eczematoid dermatitis, Umbilical hernia, A...	ORPHA:352490
Fraser-Like Syndrome	Overlapping toe, Subglottic stenosis, Contracture of the proximal interphalangeal joint of the 2n...	OMIM:229230
X-Linked Dominant Chondrodysplasia Punctata	Low-set ears, Depressed nasal bridge, Hypoplastic cervical vertebrae, Epiphyseal stippling, Upper...	ORPHA:35173
Congenital Disorder Of Deglycosylation 2	Genu recurvatum, Broad thumb, Sandal gap, Hearing impairment, Short columella, Micrognathia, Ulna...	OMIM:619775
Schneckenbecken Dysplasia	Hypoplastic ilia, Hypoplastic scapulae, Narrow chest, Micromelia, Abnormal form of the vertebral ...	ORPHA:3144
Saul-Wilson Syndrome	Hypoplasia of the odontoid process, Hearing impairment, Micrognathia, Sensorineural hearing impai...	OMIM:618150
Baller-Gerold Syndrome	Finger aplasia, Aplasia/Hypoplasia of the radius, Conductive hearing impairment, Failure to thriv...	ORPHA:1225
Simpson-Golabi-Behmel Syndrome	Multicystic kidney dysplasia, Toe syndactyly, Broad thumb, Finger syndactyly, Supernumerary nippl...	ORPHA:373
Spondyloepimetaphyseal Dysplasia, Aggrecan Type	Low-set ears, Platyspondyly, Rhizomelia, Broad thumb, Short finger, Irregular epiphyses, Lumbar h...	OMIM:612813
Ochoa Syndrome	Urethral obstruction, Recurrent urinary tract infections, Vesicoureteral reflux, Renal insufficie...	ORPHA:2704
Wrinkly Skin Syndrome	Low-set ears, Carious teeth, Delayed cranial suture closure, Talipes equinovarus, Progressive mic...	OMIM:278250
Spondylometaphyseal Dysplasia, Kozlowski Type	Delayed epiphyseal ossification, Abnormal ilium morphology, Hypoplasia of the odontoid process, R...	ORPHA:93314
Thoracic Dysostosis, Isolated	Pectus excavatum, Bell-shaped thorax, Short ribs	OMIM:187750
Intellectual Developmental Disorder, Autosomal Dominant 70	Wide nasal bridge, Hypoplasia of the maxilla, Broad nasal tip, Hearing impairment, Retrognathia, ...	OMIM:620157
Fetal Akinesia Deformation Sequence 1	Thin ribs, Low-set ears, Slender long bone, Thoracic hypoplasia, Camptodactyly of finger, Ulnar d...	OMIM:208150
Seckel Syndrome 10	Cone-shaped epiphysis, Microretrognathia, Glycosuria, Slender long bone, Elevated circulating asp...	OMIM:617253
Frontonasal Dysplasia 1	Low-set ears, Wide nasal bridge, Joint contracture of the hand, Broad nasal tip, Conductive heari...	OMIM:136760
Brachycephaly, Deafness, Cataract, Microstomia, And Impaired Intellectual Development	Low-set ears, Scoliosis, Hearing impairment, Finger clinodactyly, Pectus excavatum of inferior st...	OMIM:601353
Cole-Carpenter Syndrome	Abnormal form of the vertebral bodies, Delayed eruption of teeth, Abnormal dental enamel morpholo...	ORPHA:2050
Wiedemann-Rautenstrauch Syndrome	Thin ribs, Low-set ears, Natal tooth, Clinodactyly, Micrognathia, Talipes equinovarus, Short neck...	OMIM:264090
X-Linked Skeletal Dysplasia-Intellectual Disability Syndrome	Thoracic hemivertebrae, Brachydactyly, Abnormal sacrum morphology, Scoliosis, Short middle phalan...	ORPHA:1436
Short-Rib Thoracic Dysplasia 11 With Or Without Polydactyly	Nephrocalcinosis, Narrow chest, Thoracic dysplasia, Obesity, Bell-shaped thorax, Horizontal ribs,...	OMIM:615633
Acromesomelic Dysplasia 4	Low-set ears, Radial bowing, Prominent deltoid tuberosities, Genu valgum, Beaking of vertebral bo...	OMIM:619636
Mucopolysaccharidosis, Type Ivb	Constricted iliac wing, Hypoplasia of the odontoid process, Carious teeth, Hearing impairment, Ge...	OMIM:253010
Cartilage-Hair Hypoplasia	Small hand, Bowing of the long bones, Short neck, Diaphyseal undertubulation, Metaphyseal dysplas...	ORPHA:175
Earlobes, Thickened, With Conductive Deafness From Incudostapedial Abnormalities	Bilateral conductive hearing impairment, Absent stapes head, Abnormality of the malleus, Congenit...	OMIM:128980
Ulnar-Mammary Syndrome	Short distal phalanx of finger, Renal hypoplasia, Pectus carinatum, Abnormal clavicle morphology,...	ORPHA:3138
Catel-Manzke Syndrome	Hyperphalangy of the 2nd finger, Short toe, Umbilical hernia, Ulnar deviation of the 2nd finger, ...	OMIM:616145
Cleidocranial Dysplasia	Hypoplastic scapulae, Carious teeth, Hearing impairment, Genu valgum, Micrognathia, Abnormal meta...	ORPHA:1452
Koolen-De Vries Syndrome	Arachnodactyly, Hypospadias, Hip dislocation, Thick nasal alae, Bulbous nose, Renal duplication, ...	ORPHA:96169
Acitretin/Etretinate Embryopathy	Hypoplastic nasal septum, Cupped ear, Abnormality of the calcaneus, Anteverted nares, Micrognathi...	ORPHA:40366
Ellis Van Creveld Syndrome	Short distal phalanx of finger, Abnormal pelvic girdle bone morphology, Hydroureter, Synostosis o...	ORPHA:289
Fanconi Anemia, Complementation Group C	Absent thumb, Short thumb, Renal agenesis, Hearing impairment, Horseshoe kidney, Microcephaly, Ab...	OMIM:227645
Rhizomelic Chondrodysplasia Punctata, Type 2	Abnormal pelvic girdle bone morphology, Rhizomelia, Stippled calcification proximal humeral epiph...	OMIM:222765
Osteogenesis Imperfecta, Type Xix	Osteopenia, Rhizomelia, Pectus carinatum, Hearing impairment, Vertebral wedging, Bowing of the ar...	OMIM:301014
Chromosome 2P16.1-P15 Deletion Syndrome	Wide nasal bridge, Depressed nasal bridge, Joint contracture of the hand, Recurrent upper respira...	OMIM:612513
Toluene Embryopathy	Low-set ears, Hypoplasia of the zygomatic bone, Micrognathia, Protruding ear, Microcephaly, Bipar...	ORPHA:1920
Vacterl/Vater Association	Hypospadias, Multicystic kidney dysplasia, Aplasia/Hypoplasia of the radius, Abnormality of the u...	ORPHA:887
Fibular Aplasia-Complex Brachydactyly Syndrome	Abnormal epiphysis morphology, Synostosis of carpal bones, Micromelia, Abnormal tibia morphology,...	ORPHA:2639
14Q11.2 Microdeletion Syndrome	Low-set, posteriorly rotated ears, Depressed nasal bridge, Micrognathia, Short nose	ORPHA:261120
Atresia Of External Auditory Canal And Conductive Deafness	Stenosis of the external auditory canal, Conductive hearing impairment, Atresia of the external a...	OMIM:108760
3C Syndrome	Wide nasal bridge, Hypospadias, Depressed nasal bridge, Low-set ears, Finger syndactyly, Abnormal...	ORPHA:7
Cono-Spondylar Dysplasia	Epiphyseal dysplasia, Short 4th toe, Short humerus, Brachydactyly, Short lower limbs, Cone-shaped...	ORPHA:420794
Craniometadiaphyseal Dysplasia	Low-set ears, Wide anterior fontanel, Mandibular prognathia, Carious teeth, Natal tooth, Absent p...	OMIM:269300
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome	Multicystic kidney dysplasia, Hydroureter, Megacystis, Umbilical hernia, Cryptorchidism, Omphalocele	ORPHA:2241
Pectus Excavatum-Macrocephaly-Dysplastic Nails Syndrome	Depressed nasal bridge, Hypoplasia of the zygomatic bone, Malar flattening, Macrocephaly, Short nose	ORPHA:2835
Auriculoosteodysplasia	Aplasia/Hypoplasia of the earlobes, Aplasia/Hypoplasia of the radius, Abnormal clavicle morpholog...	ORPHA:114
Schinzel-Giedion Midface Retraction Syndrome	Low-set ears, Aplasia/Hypoplasia of the pubic bone, Talipes equinovarus, Short neck, Hepatoblasto...	OMIM:269150
Roifman-Chitayat Syndrome	Pneumonia, Cone-shaped epiphysis, Umbilical hernia, Arthritis, Short metatarsal, Ectopic kidney, ...	OMIM:613328
Ehlers-Danlos Syndrome, Classic-Like, 2	Cellulitis, Atypical scarring of skin, Aortic root aneurysm, Umbilical hernia, Knee dislocation, ...	OMIM:618000
Osteogenesis Imperfecta, Type Vii	Dentinogenesis imperfecta, Rhizomelia, Narrow chest, Micromelia, Delayed cranial suture closure, ...	OMIM:610682
Poland Syndrome	Abnormality of the outer ear, Small hand, Finger syndactyly, Ureterocele, Aplasia/Hypoplasia of t...	ORPHA:2911
10Q22.3Q23.3 Microduplication Syndrome	Low-set ears, Abnormal clavicle morphology, Microcephaly, Abnormal rib morphology, Chronic otitis...	ORPHA:276422
Microphthalmia With Limb Anomalies	Flared nostrils, Low-set ears, Toe syndactyly, Postaxial foot polydactyly, Talipes equinovarus, 2...	OMIM:206920
Fg Syndrome Type 1	Choanal atresia, Cupped ear, Finger syndactyly, Clinodactyly of the 2nd finger, Abnormal sternum ...	ORPHA:93932
9Q21.13 Microdeletion Syndrome	Wide nasal ridge, Polydactyly, Vertebral segmentation defect, Hydronephrosis, Hip dysplasia, Cran...	ORPHA:531151
Brachydactyly-Ectrodactyly With Fibular Aplasia Or Hypoplasia	Fibular aplasia, Brachydactyly, Short phalanx of finger, Aplasia/Hypoplasia of the fibula, Split ...	OMIM:113310
Pyknoachondrogenesis	Low-set ears, Craniofacial hyperostosis, Abnormal intramembranous ossification, Unossified sacrum...	ORPHA:3003
Tetraamelia With Ectodermal Dysplasia And Lacrimal Duct Abnormalities	Tetraamelia, Cryptorchidism, Umbilical hernia	OMIM:273390
Tarp Syndrome	Finger syndactyly, Clinodactyly, Hearing impairment, Micrognathia, Abnormal antihelix morphology,...	ORPHA:2886
Congenital Hypotonia, Epilepsy, Developmental Delay, And Digital Anomalies	Low-set ears, Unilateral renal agenesis, Renal hypoplasia, Prominent fingertip pads, Hearing impa...	OMIM:618494
Global Developmental Delay, Lung Cysts, Overgrowth, And Wilms Tumor	Pulmonary cyst, Umbilical hernia, Micrognathia, Inguinal hernia, Nephroblastoma, Enlarged kidney	OMIM:618272
Mesomelia-Synostoses Syndrome	Abnormal vertebral morphology, Mesomelia, Tarsometatarsal synostosis, Microretrognathia, Micromel...	OMIM:600383
2Q37 Microdeletion Syndrome	Multicystic kidney dysplasia, Toe syndactyly, Small hand, Finger syndactyly, Eczematoid dermatiti...	ORPHA:1001
Hypophosphatemic Rickets, X-Linked Dominant	Renal phosphate wasting, Shortening of the talar neck, Metaphyseal irregularity, Rachitic rosary,...	OMIM:307800
Dent Disease 2	Aminoaciduria, Chronic kidney disease, Nephrocalcinosis, Proximal tubulopathy, Umbilical hernia, ...	OMIM:300555
Foxp1 Syndrome	Hypoplastic helices, Recurrent upper respiratory tract infections, Broad nasal tip, Retrognathia,...	ORPHA:391372
Microcephalic Osteodysplastic Primordial Dwarfism, Type I	Delayed epiphyseal ossification, Enlarged metaphyses, Low-set ears, Elbow dislocation, Micrognath...	OMIM:210710
Odontochondrodysplasia 2 With Hearing Loss And Diabetes	Platyspondyly, Moderate albuminuria, Dentinogenesis imperfecta, Short toe, Retrognathia, Delayed ...	OMIM:619269
Weiss-Kruszka Syndrome	Low-set ears, Cupped ear, Hearing impairment, Horizontal crus of helix, Clinodactyly of the 5th f...	OMIM:618619
Congenital Neuronal Ceroid Lipofuscinosis	Low-set ears, Microcephaly, Split hand, Aplasia/Hypoplasia of the external ear	ORPHA:168486
Microcephaly-Corpus Callosum And Cerebellar Vermis Hypoplasia-Facial Dysmorphism-Intellectual Disability Syndrom	Short 5th finger, Recurrent pneumonia, Eczematoid dermatitis, Umbilical hernia, Recurrent otitis ...	ORPHA:500159
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 2	Chronic kidney disease, Unilateral renal agenesis, Rhizomelia, Renal hypoplasia, Narrow chest, De...	OMIM:617661
Spondyloepiphyseal Dysplasia Congenita	Hearing impairment, Dysplasia of the femoral head, Genu valgum, Micrognathia, Barrel-shaped chest...	ORPHA:94068
Trisomy 17P	Low-set ears, Urethral valve, Hearing impairment, Thick nasal alae, Prominent nose, Micrognathia,...	ORPHA:261290
Aarskog-Scott Syndrome	Genu recurvatum, Small hand, Finger syndactyly, Camptodactyly of finger, Umbilical hernia, Inguin...	ORPHA:915
Carey-Fineman-Ziter Syndrome	Ulnar deviation of finger, Aplasia of the pectoralis major muscle, Glandular hypospadias, Antever...	ORPHA:1358
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 3	Low-set ears, Depressed nasal bridge, Conductive hearing impairment, Recurrent otitis media, Micr...	OMIM:616910
Wolf-Hirschhorn Syndrome	Abnormal vertebral morphology, Hearing impairment, Micrognathia, Arachnodactyly, Talipes equinova...	ORPHA:280
Marden-Walker Syndrome	Low-set ears, Multicystic kidney dysplasia, Micrognathia, Renal hypoplasia/aplasia, Arachnodactyl...	ORPHA:2461
Recon Progeroid Syndrome	Underdeveloped nasal alae, Anteverted nares, Prominent nasal bridge, Joint hypermobility, Promine...	OMIM:620370
Greenberg Dysplasia	Low-set ears, Fractured rib, Postaxial foot polydactyly, Supernumerary vertebral ossification cen...	OMIM:215140
Achondrogenesis Type 1B	Narrow chest, Micromelia, Short thorax, Macrocephaly, Anteverted nares, Micrognathia, Talipes equ...	ORPHA:93298
Ophthalmomandibulomelic Dysplasia	Mesomelia, Radioulnar dislocation, Aplasia/Hypoplasia of the radius, Synostosis of carpal bones, ...	ORPHA:2741
Congenital Osteogenesis Imperfecta-Microcephaly-Cataracts Syndrome	Micromelia, Low-set, posteriorly rotated ears, Decreased calvarial ossification, Joint hypermobil...	ORPHA:2772
Osteogenesis Imperfecta, Type Xiii	Platyspondyly, Enuresis nocturna, Pectus carinatum, Dentinogenesis imperfecta, Hearing impairment...	OMIM:614856
Fliedner-Zweier Syndrome	Unilateral renal agenesis, Multicystic kidney dysplasia, Bulbous nose, Obesity, Hydronephrosis, M...	OMIM:620511
Pontocerebellar Hypoplasia, Type 2E	Secondary microcephaly, Large earlobe, Micrognathia, Microcephaly, Progressive microcephaly, Oste...	OMIM:615851
Epidermolysis Bullosa, Junctional 6, With Pyloric Atresia	Microtia	OMIM:619817
Spondyloepimetaphyseal Dysplasia Congenita, Strudwick Type	Abnormal vertebral morphology, Platyspondyly, Aplasia/hypoplasia involving bones of the extremiti...	ORPHA:93346
15q26 overgrowth syndrome	Low-set ears, Abnormal joint morphology, Micrognathia, Sensorineural hearing impairment, Arachnod...	DECIPHER:81
Craniometadiaphyseal Dysplasia, Wormian Bone Type	Broad femoral neck, Overtubulated long bones, Abnormal diaphysis morphology, Short tubular bones ...	ORPHA:85184
15Q Overgrowth Syndrome	Low-set ears, Abnormality of the outer ear, Contracture of the proximal interphalangeal joint of ...	ORPHA:314585
Bartsocas-Papas Syndrome 1	Low-set ears, Hypoplastic scapulae, Hypoplastic iliac wing, Micrognathia, Talipes equinovarus, Sh...	OMIM:263650
Dysosteosclerosis	Hearing impairment, Sclerosis of hand bone, Increased intervertebral space, Diaphyseal undertubul...	OMIM:224300
Vesicoureteral Reflux 2	Renal hypoplasia, Vesicoureteral reflux	OMIM:610878
Osteogenesis Imperfecta, Type X	Platyspondyly, Thin ribs, Rhizomelia, Narrow chest, Dentinogenesis imperfecta, Micromelia, Thorac...	OMIM:613848
Fanconi Anemia, Complementation Group U	Absent thumb, Microcephaly, Hypoplasia of the radius, Absent radius, Absent scaphoid, Ectopic kid...	OMIM:617247
Keipert Syndrome	Depressed nasal bridge, Hypoplasia of the maxilla, Prominent nasal bridge, Sensorineural hearing ...	ORPHA:2662
Polydactyly-Myopia Syndrome	Femoral hernia, Inguinal hernia, Cryptorchidism, Postaxial hand polydactyly	ORPHA:2917
Clark-Baraitser Syndrome	Low-set ears, Depressed nasal bridge, Large earlobe, Anteverted nares, Microcephaly, Low hanging ...	OMIM:617752
Kniest Dysplasia	Delayed epiphyseal ossification, Enlarged metaphyses, Hypoplasia of the odontoid process, Hearing...	ORPHA:485
Distal Deletion 12Q	Low-set ears, Bilateral conductive hearing impairment, Prominent ear helix, Overlapping toe, Micr...	ORPHA:96149
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome	Low-set ears, Atlantoaxial dislocation, Carious teeth, Dysplasia of the femoral head, Micrognathi...	ORPHA:536467
Otopalatodigital Syndrome, Type Ii	Low-set ears, Toe syndactyly, Broad thumb, Radial bowing, Rudimentary fibula, Overlapping fingers...	OMIM:304120
Oculoauriculovertebral Spectrum With Radial Defects	Conductive hearing impairment, Atresia of the external auditory canal, Preaxial hand polydactyly,...	ORPHA:2549
Poland Syndrome	Short ribs, Unilateral oligodactyly, Rib fusion, Sprengel anomaly, Hemivertebrae, Unilateral brac...	OMIM:173800
Mosaic Trisomy 9	Low-set ears, Elbow dislocation, Micrognathia, Talipes equinovarus, Short neck, Biparietal narrow...	ORPHA:99776
Lowry-Maclean Syndrome	Low-set ears, Osteopenia, Choanal atresia, Hypoplasia of the maxilla, Retrognathia, Micrognathia,...	ORPHA:2409
Acrofacial Dysostosis Syndrome Of Rodriguez	Wide nasal bridge, Low-set ears, Absent forearm, Short tibia, Clinodactyly, Oligodactyly, 11 pair...	OMIM:201170
Intellectual Developmental Disorder, Autosomal Dominant 43	Wide nasal bridge, Failure to thrive, Anteverted nares, Prominent nasal bridge, Attached earlobe,...	OMIM:616977
Chst3-Related Skeletal Dysplasia	Rhizomelia, Abnormal form of the vertebral bodies, Delayed eruption of teeth, Irregular epiphyses...	ORPHA:263463
Achondrogenesis Type 1A	Abnormal enchondral ossification, Anteverted nares, Micrognathia, Macrocephaly, Recurrent fractur...	ORPHA:93299
Otopalatodigital Syndrome, Type I	Toe syndactyly, Synostosis of carpal bones, Absent frontal sinuses, Short hallux, Dislocated radi...	OMIM:311300
Stankiewicz-Isidor Syndrome	Absent thumb, Short thumb, Micrognathia, Cryptorchidism, Truncus arteriosus, 2-3 toe syndactyly, ...	OMIM:617516
Antley-Bixler Syndrome	Narrow chest, Camptodactyly of finger, Low-set, posteriorly rotated ears, Joint stiffness, Femora...	ORPHA:83
Spondylometaphyseal Dysplasia With Cone-Rod Dystrophy	Recurrent otitis media, Hypoplastic inferior ilia, Short metacarpal, Ovoid vertebral bodies, Incr...	OMIM:608940
Fanconi Anemia, Complementation Group L	Wide nasal bridge, Unilateral renal agenesis, Renal hypoplasia, Low-set ears, Absent thumb, Hypop...	OMIM:614083
Renal-Hepatic-Pancreatic Dysplasia 1	Cholestasis, Cirrhosis, Hepatomegaly, Polycystic kidney dysplasia, Renal dysplasia, Patent ductus...	OMIM:208540
Multinucleated Neurons, Anhydramnios, Renal Dysplasia, Cerebellar Hypoplasia, And Hydranencephaly	Renal hypoplasia, Hydranencephaly, Microretrognathia, Ureteral agenesis, Single transverse palmar...	OMIM:236500
Craniosynostosis With Fibular Aplasia	Craniosynostosis, Fibular aplasia, Single transverse palmar crease	OMIM:218550
Campomelia, Cumming Type	Clubbing of toes, Multicystic kidney dysplasia, Micromelia, Abnormal thorax morphology, Bowing of...	ORPHA:1318
Monosomy 9P	Low-set ears, Atresia of the external auditory canal, Micrognathia, Abnormal antihelix morphology...	ORPHA:261112
Treacher Collins Syndrome 2	Choanal atresia, Microretrognathia, Conductive hearing impairment, Retrognathia, Hypoplasia of th...	OMIM:613717
Maxillonasal Dysplasia	Depressed nasal bridge, Depressed nasal ridge, Hypoplasia of the maxilla, Short columella, Abnorm...	ORPHA:1248
Macrocephaly-Spastic Paraplegia-Dysmorphism Syndrome	Mandibular prognathia, Short nose, Macrocephaly	ORPHA:2429
Xp22.13P22.2 Duplication Syndrome	Small hand, Recurrent upper respiratory tract infections, Umbilical hernia, Congenital diaphragma...	ORPHA:284180
Rudiger Syndrome	Ureterovesical stenosis, Inguinal hernia, Ovarian cyst, Single transverse palmar crease, Short di...	OMIM:268650
Multiple Osteochondromas	Rib exostoses, Abnormal tibia morphology, Abnormal hand morphology, Genu valgum, Bowing of the lo...	ORPHA:321
Opsismodysplasia	Low-set ears, Hypoplasia of the odontoid process, Bell-shaped thorax, Short neck, Anterior rib cu...	OMIM:258480
Cranioectodermal Dysplasia 1	Chronic kidney disease, Clinodactyly, Broad distal phalanges of all fingers, Broad toe, Flattened...	OMIM:218330
2P15P16.1 Microdeletion Syndrome	Low-set ears, Multicystic kidney dysplasia, Hearing impairment, Bilateral single transverse palma...	ORPHA:261349
Mitochondrial Complex Iii Deficiency, Nuclear Type 11	Microtia	OMIM:620137
Tetrasomy 15Q26	Low-set ears, Microretrognathia, Cupped ear, Horseshoe kidney, Kyphoscoliosis, Arachnodactyly, Hy...	OMIM:614846
Kagami-Ogata Syndrome	Depressed nasal bridge, Thoracic hypoplasia, Anteverted nares, Bell-shaped thorax, Micrognathia, ...	ORPHA:254519
Genitopatellar Syndrome	Low-set ears, Hypoplastic ilia, Multicystic kidney dysplasia, Delayed eruption of teeth, Hearing ...	ORPHA:85201
Mucopolysaccharidosis Type 7	Arteriovenous malformation, Hepatitis, Umbilical hernia, Abnormal hip bone morphology, Epiphyseal...	ORPHA:584
Brachial Amelia, Cleft Lip, And Holoprosencephaly	Foot oligodactyly, Amelia, Short femur	OMIM:601357
Fanconi Anemia, Complementation Group I	Renal hypoplasia, Absent thumb, Short thumb, Short 1st metacarpal, Conductive hearing impairment,...	OMIM:609053
Microphthalmia, Syndromic 9	Micrognathia, Congenital diaphragmatic hernia, Cryptorchidism, Hypoplasia of the uterus, Hypoplas...	OMIM:601186
Eiken Syndrome	Delayed epiphyseal ossification, Clinodactyly, Long hallux, Long thumb, Decreased body weight, Mu...	OMIM:600002
Sialidosis Type 2	Nephropathy, Umbilical hernia, Inguinal hernia, Splenomegaly, Hepatomegaly, Flexion contracture, ...	ORPHA:87876
Thanatophoric Dysplasia Type 1	Hypoplastic ilia, Micromelia, Femoral bowing, Bowing of the long bones, Abnormal sacroiliac joint...	ORPHA:1860
17Q24.2 Microdeletion Syndrome	Wide nasal bridge, Abnormality of the ankle, Broad thumb, Otosclerosis, Upper limb undergrowth, F...	ORPHA:529962
Intellectual Developmental Disorder, X-Linked 21	Short nose, Mandibular prognathia, Uplifted earlobe, Joint hypermobility	OMIM:300143
Amastia, Bilateral, With Ureteral Triplication And Dysmorphism	Wide nasal bridge, Congenital hip dislocation, Depressed nasal bridge, Low-set ears, Ureteral tri...	OMIM:104350
Paganini-Miozzo Syndrome	Low-set ears, Posteriorly rotated ears, Microtia	OMIM:301025
Fanconi Anemia, Complementation Group F	Renal hypoplasia, Absent thumb, Short thumb, Microphallus, Failure to thrive, Conductive hearing ...	OMIM:603467
Spondyloepiphyseal Dysplasia Tarda	Enlarged metaphyses, Hypoplasia of the odontoid process, Finger swelling, Premature osteoarthriti...	ORPHA:93284
Distal Limb Deficiencies-Micrognathia Syndrome	Renal hypoplasia, Abnormality of the ankle, Aplasia/Hypoplasia of the radius, Hypoplasia of the m...	ORPHA:1307
Caudal Regression Syndrome	Abnormal pelvic girdle bone morphology, Renal agenesis, Aplasia/Hypoplasia of the sacrum, Abnorma...	ORPHA:3027
Bardet-Biedl Syndrome 4	Hypogonadism, External genital hypoplasia, Cryptorchidism, Polydactyly, Renal cyst, Brachydactyly...	OMIM:615982
Peho-Like Syndrome	Progressive microcephaly, Retrognathia, Short nose	OMIM:617507
Congenital Anomalies Of Kidney And Urinary Tract 1	Unilateral renal agenesis, Renal hypoplasia, Stage 5 chronic kidney disease, Vesicoureteral reflu...	OMIM:610805
Acrocraniofacial Dysostosis	Broad thumb, Genu valgum, Micrognathia, Sensorineural hearing impairment, Abnormality of the mall...	ORPHA:949
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria	Interrupted aortic arch, Abnormal renal collecting system morphology, Elevated circulating hepati...	ORPHA:17
Chung-Jansen Syndrome	Macrotia, Large earlobe, Anteverted nares, Micrognathia, Joint hypermobility, Short nose	OMIM:617991
Trisomy 20P	Finger syndactyly, Abnormality of the ureter, Micrognathia, Abnormal antihelix morphology, Short ...	ORPHA:261318
Desmosterolosis	Low-set ears, Joint contracture of the hand, Hypoplastic nasal bridge, Cupped ear, Anteverted nar...	OMIM:602398
Autosomal Recessive Amelia	Small scrotum, Micrognathia, Acromelia of the lower limbs, Amelia, Cryptorchidism, Aplasia/Hypopl...	ORPHA:1027
Vitamin D Hydroxylation-Deficient Rickets, Type 1B	Delayed epiphyseal ossification, Bulging epiphyses, Failure to thrive, Enlargement of the wrists,...	OMIM:600081
Penile Agenesis	Hydroureter, Bilateral renal agenesis, Bilateral renal hypoplasia, Unilateral renal hypoplasia, B...	ORPHA:49
Musculocontractural Ehlers-Danlos Syndrome	Atlantoaxial dislocation, Hearing impairment, Abnormal mesentery morphology, Recurrent joint disl...	ORPHA:2953
Hypophosphatemic Rickets With Hypercalciuria, Hereditary	Delayed epiphyseal ossification, Renal phosphate wasting, Calcium nephrolithiasis, Bulging epiphy...	OMIM:241530
Al-Raqad Syndrome	Low-set ears, Microcephaly, Short nose, Joint hypermobility	OMIM:616459
Intellectual Developmental Disorder, X-Linked, Syndromic 14	Hypoplasia of the maxilla, Prominent nasal bridge, Mandibular prognathia, Macrocephaly	OMIM:300676
Chromosome 16P12.2-P11.2 Deletion Syndrome, 7.1- To 8.7-Mb	Low-set ears, Wide nasal bridge, Hearing impairment, Recurrent otitis media, Bulbous nose, Anteve...	OMIM:613604
Craniofacioskeletal Syndrome	Choanal atresia, Small hand, Micrognathia, Absent gallbladder, Hypoplastic frontal sinuses, Barre...	OMIM:300712
Hypophosphatasia	Narrow chest, Failure to thrive in infancy, Bowing of the long bones, Abnormal rib morphology, Cr...	ORPHA:436
Renpenning Syndrome	Joint stiffness, Abnormal thumb morphology, Sensorineural hearing impairment, Round ear, Microcep...	ORPHA:3242
Robinow Syndrome	Flared nostrils, Low-set ears, Multicystic kidney dysplasia, Micrognathia, Marked delay in erupti...	ORPHA:97360
8P23.1 Duplication Syndrome	Hydronephrosis, Toe syndactyly, Hearing impairment, Wide nose	ORPHA:251076
Koolen-De Vries Syndrome	Pear-shaped nose, Narrow palm, Hip dislocation, Macrotia, Slender finger, Prominent fingertip pad...	OMIM:610443
Pterygium Colli, Isolated	Protruding ear, Short nose	OMIM:177990
Pierpont Syndrome	Broad nasal tip, Hearing impairment, Large fleshy ears, Malar flattening, Microcephaly, Posterior...	OMIM:602342
Primary Hypomagnesemia With Hypercalciuria And Nephrocalcinosis With Severe Ocular Involvement	Nephropathy, Umbilical hernia, Inguinal hernia, Nephrolithiasis, Hematuria	ORPHA:2196
Auriculocondylar Syndrome	Abnormality of the crus of the helix, Mandibular condyle aplasia, Dental malocclusion, Hearing im...	ORPHA:137888
Suleiman-El-Hattab Syndrome	Wide nasal bridge, Low-set ears, Microretrognathia, Clinodactyly, Failure to thrive, Hearing impa...	OMIM:618950
Panner Disease	Limited elbow extension, Abnormality of upper limb joint, Limited elbow movement, Irregular artic...	ORPHA:97336
Turnpenny-Fry Syndrome	Low-set ears, Small hand, Clinodactyly, Overlapping toe, Decreased body weight, Prominent nasal t...	OMIM:618371
Mitochondrial Myopathy And Sideroblastic Anemia	Microcephaly, Micrognathia, Short nose	ORPHA:2598
Severe Microbrachycephaly-Intellectual Disability-Athetoid Cerebral Palsy Syndrome	Hypoplasia of the ear cartilage, Broad thumb, Camptodactyly of finger, Large earlobe, Abnormal th...	ORPHA:1236
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome	Low-set ears, Hearing impairment, Absent gallbladder, Arachnodactyly, Bilateral renal dysplasia, ...	ORPHA:500150
Hyperphosphatasia-Intellectual Disability Syndrome	Wide nasal bridge, Mandibular prognathia, Cupped ear, Clinodactyly, Bulbous nose, Micrognathia, P...	ORPHA:247262
Hennekam Lymphangiectasia-Lymphedema Syndrome 1	Joint contracture of the hand, Small hand, Hypoplastic iliac wing, Cutaneous finger syndactyly, C...	OMIM:235510
Endosteal Hyperostosis, Autosomal Dominant	Sclerotic vertebral body, Metatarsal diaphyseal endosteal sclerosis, Abnormal pelvic girdle bone ...	OMIM:144750
Microcephalic Primordial Dwarfism, Toriello Type	Microcephaly, Abnormal epiphysis morphology, Brachydactyly, Abnormal rib morphology	ORPHA:2643
Neurodevelopmental Disorder With Microcephaly, Seizures, And Cortical Atrophy	Low-set ears, Ankle flexion contracture, Depressed nasal bridge, Bilateral conductive hearing imp...	OMIM:617802
Autosomal Recessive Robinow Syndrome	Multicystic kidney dysplasia, Toe syndactyly, Synostosis of carpal bones, Elbow dislocation, Fing...	ORPHA:1507
Split-Hand/Foot Malformation 3	Camptodactyly, Hypoplasia of the maxilla, Microretrognathia, Abnormal pinna morphology	OMIM:246560
Mandibulofacial Dysostosis With Macroblepharon And Macrostomia	Wide nasal bridge, Recurrent otitis media, Anteverted nares, Micrognathia, Posteriorly rotated ea...	OMIM:602562
Posterior Urethral Valve	Chronic kidney disease, Enuresis nocturna, Urinary retention, Unilateral renal dysplasia, Recurre...	ORPHA:93110
Raine Syndrome	Low-set ears, Natal tooth, Long hallux, Micrognathia, Bowing of the long bones, Short neck, Abnor...	OMIM:259775
8P Inverted Duplication/Deletion Syndrome	Wide nasal bridge, Abnormality of the urinary system, Small hypothenar eminence, Retrognathia, An...	ORPHA:96092
Osteoglosphonic Dysplasia	Choanal atresia, Rhizomelia, Abnormal clavicle morphology, Abnormal form of the vertebral bodies,...	ORPHA:2645
Aspartylglucosaminuria	Abnormal vertebral morphology, Pectus carinatum, Wide nasal bridge, Carious teeth, Mandibular pro...	ORPHA:93
Distal Xq28 Microduplication Syndrome	Epistaxis, Recurrent upper respiratory tract infections, Broad nasal tip, Hypoplasia of the maxil...	ORPHA:293939
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome	Small hand, Aortic root aneurysm, Urinary bladder wall hypertrophy, Short foot, Patent ductus art...	ORPHA:280633
Occipital Horn Syndrome	Platyspondyly, Pectus carinatum, Broad clavicles, Narrow chest, Persistent open anterior fontanel...	OMIM:304150
Intellectual Developmental Disorder, Autosomal Dominant 73	Low-set ears, Recurrent otitis media, Bilateral single transverse palmar creases, Thoracolumbar s...	OMIM:620450
Chromosome 16P13.3 Duplication Syndrome	Low-set ears, Micrognathia, Short neck, Small thenar eminence, Hip dislocation, Short nose, Wide ...	OMIM:613458
Lung Agenesis-Heart Defect-Thumb Anomalies Syndrome	Short distal phalanx of finger, Abnormal helix morphology, Short thumb, Preaxial hand polydactyly...	ORPHA:1120
Schwartz-Jampel Syndrome, Type 1	Joint contracture of the hand, Micrognathia, Hip contracture, Bowing of the long bones, Talipes e...	OMIM:255800
Brachytelephalangic Chondrodysplasia Punctata	Hypoplastic cervical vertebrae, Abnormality of the costochondral junction, Stippling of the epiph...	ORPHA:79345
Congenital Hemidysplasia With Ichthyosiform Erythroderma And Limb Defects	Hypoplastic scapulae, Finger syndactyly, Hearing impairment, Micrognathia, 2-5 finger syndactyly,...	OMIM:308050
Primary Hyperoxaluria Type 2	Nephrocalcinosis, Recurrent urinary tract infections, Ureteral obstruction, Hyperoxaluria, Renal ...	ORPHA:93599
Microcephalic Osteodysplastic Primordial Dwarfism Types I And Iii	Low-set ears, Micrognathia, Bilateral single transverse palmar creases, Short neck, Abnormal meta...	ORPHA:2636
Radial Ray Hypoplasia With Choanal Atresia	Depressed nasal bridge, Choanal atresia, Short thumb, Distally placed thumb, Choanal stenosis, Hy...	OMIM:179270
Spondyloepimetaphyseal Dysplasia, Shohat Type	Delayed epiphyseal ossification, Bell-shaped thorax, Narrow vertebral interpedicular distance, Sh...	OMIM:602557
Short-Rib Thoracic Dysplasia 18 With Polydactyly	Platyspondyly, Radial bowing, Vertebral wedging, Preaxial polydactyly, Micromelia, Hyperechogenic...	OMIM:617866
Autosomal Recessive Omodysplasia	Rhizomelia, Micromelia, Elbow dislocation, Micrognathia, Abnormal femur morphology, Cryptorchidis...	ORPHA:93329
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins	Dilatation of the renal pelvis, Micrognathia, Dilatation of the bladder, Pulmonary lymphangiectas...	OMIM:265380
Vacterl With Hydrocephalus	Abnormality of the outer ear, Absence of the sacrum, Microtia, third degree, Abnormal form of the...	ORPHA:3412
Autosomal Recessive Kenny-Caffey Syndrome	Thin ribs, Small hand, Carious teeth, Delayed cranial suture closure, Stenosis of the medullary c...	ORPHA:93324
Basel-Vanagaite-Smirin-Yosef Syndrome	Low-set ears, Finger syndactyly, Clinodactyly, Male urethral meatus stenosis, Overlapping toe, Ov...	ORPHA:464738
Al-Gazali Syndrome	Broad distal phalanx of finger, Failure to thrive, Micrognathia, Hydronephrosis, Bowed humerus, W...	OMIM:609465
Mucopolysaccharidosis, Type X	Platyspondyly, Broad clavicles, Wide nasal bridge, Irregular acetabular roof, Broad ribs, Genu va...	OMIM:619698
Stickler Syndrome Type 1	Hypoplasia of the maxilla, Sensorineural hearing impairment, Joint hypermobility, Osteoarthritis,...	ORPHA:90653
Radial Hypoplasia, Triphalangeal Thumbs, Hypospadias, And Maxillary Diastema	Nonopposable triphalangeal thumb, Hypoplasia of the radius	OMIM:179250
Epilepsy, Focal, With Speech Disorder And With Or Without Impaired Intellectual Development	Primary microcephaly, Short nose	OMIM:245570
Shwachman-Diamond Syndrome 2	Low-set ears, Failure to thrive, Exocrine pancreatic insufficiency, Subglottic stenosis, Hyperech...	OMIM:617941
Teebi-Shaltout Syndrome	Wide nasal bridge, Pectus carinatum, Low-set ears, Broad nasal tip, Caudal appendage, Hypoplastic...	OMIM:272950
Vitamin D Hydroxylation-Deficient Rickets, Type 1A	Delayed epiphyseal ossification, Subperiosteal bone resorption, Generalized aminoaciduria, Bulgin...	OMIM:264700
Orofaciodigital Syndrome Vi	Toe syndactyly, Renal agenesis, Clinodactyly, Preaxial hand polydactyly, Radial deviation of fing...	OMIM:277170
Roberts Syndrome	Synostosis of carpal bones, Finger syndactyly, Micrognathia, Patellar aplasia, Bilateral single t...	ORPHA:3103
Osteogenesis Imperfecta, Type Xviii	Thin ribs, Wide nasal bridge, Femoral bowing, Micrognathia, Biconcave vertebral bodies, Bowing of...	OMIM:617952
Meier-Gorlin Syndrome 6	Depressed nasal ridge, Depressed nasal bridge, Microretrognathia, Small for gestational age, Sand...	OMIM:616835
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 1	Renal hypoplasia, Hepatic failure, Umbilical hernia, Oligodactyly, Recurrent otitis media, Glue e...	OMIM:619758
Microphthalmia With Limb Anomalies	Synostosis of joints, Hypoplasia of the premaxilla, Toe syndactyly, Synostosis of carpal bones, E...	ORPHA:1106
Intellectual Developmental Disorder, X-Linked, Syndromic, Lujan-Fryns Type	Low-set ears, Hypoplasia of the maxilla, Narrow nose, Narrow nasal bridge, Prominent nasal bridge...	OMIM:309520
Osteofibrous Dysplasia, Susceptibility To	Pathologic fracture, Pectus excavatum, Pseudoarthrosis, Fibular hypoplasia	OMIM:607278
Vitamin D-Dependent Rickets, Type 2A	Delayed epiphyseal ossification, Subperiosteal bone resorption, Wide nasal bridge, Carious teeth,...	OMIM:277440
Chromosome 4Q32.1-Q32.2 Triplication Syndrome	Low-set ears, Wide nasal bridge, Microretrognathia, Hypoplasia of the zygomatic bone, Short colum...	OMIM:613603
Cataract-Aberrant Oral Frenula-Growth Delay Syndrome	Inguinal hernia, Umbilical hernia	ORPHA:1373
Aymé-Gripp Syndrome	Low-set ears, Depressed nasal bridge, Reduced arm span, Delayed cranial suture closure, Stenosis ...	ORPHA:1272
Weaver Syndrome	Joint contracture of the hand, Broad thumb, Clinodactyly, Hypoplastic iliac wing, Overlapping toe...	OMIM:277590
Becker Nevus Syndrome	Pectus carinatum, Micromelia, Abnormal tibia morphology, Supernumerary ribs, Rib fusion, Spina bi...	ORPHA:64755
Auricular Abnormalities-Cleft Lip With Or Without Cleft Palate-Ocular Abnormalities Syndrome	Low-set ears, Plagiocephaly, Kyphosis, Cervical ribs, Microcephaly, Pectus excavatum, Abnormal pi...	ORPHA:77300
Galloway-Mowat Syndrome	Nephropathy, Hypoplasia of the ear cartilage, Camptodactyly of finger, Micrognathia, Proteinuria,...	ORPHA:2065
Hennekam-Beemer Syndrome	Wide nasal bridge, Conductive hearing impairment, Failure to thrive, Hearing impairment, Camptoda...	ORPHA:2135
Cornelia De Lange Syndrome 3 With Or Without Midline Brain Defects	Short 5th finger, Small hand, Toe syndactyly, Hydroureter, Micrognathia, Cryptorchidism, Single t...	OMIM:610759
Hypogonadism-Mitral Valve Prolapse-Intellectual Disability Syndrome	Short neck, Abnormal metacarpal morphology, Obesity, Abnormal morphology of ulna	ORPHA:2233
Facial Paresis, Hereditary Congenital, 3	Low-set ears, Depressed nasal bridge, Anteverted nares, Micrognathia, Sensorineural hearing impai...	OMIM:614744
Non-Syndromic Bilambdoid And Sagittal Craniosynostosis	Clinodactyly of the 5th finger, Micrognathia, Patent ductus arteriosus, Umbilical hernia	ORPHA:1516
Basel-Vanagaite-Smirin-Yosef Syndrome	Low-set ears, Pectus carinatum, Retrognathia, Anteverted nares, Single transverse palmar crease, ...	OMIM:616449
Pde4D Haploinsufficiency Syndrome	Hearing impairment, Micrognathia, Prominent nasal tip, Broad phalanx, Bilateral coxa valga, Hypos...	ORPHA:439822
Bladder Exstrophy	Umbilical hernia, Recurrent urinary tract infections, Abnormality of the ureter, Vesicoureteral r...	ORPHA:93930
Absent Eyebrows And Eyelashes With Impaired Intellectual Development	Microcephaly, Convex nasal ridge, Short nose	OMIM:200130
X-Linked Hypophosphatemia	Limitation of joint mobility, Genu valgum, Sensorineural hearing impairment, Bowing of the long b...	ORPHA:89936
Fanconi Anemia, Complementation Group A	Absent thumb, Short thumb, Renal agenesis, Hearing impairment, Horseshoe kidney, Abnormal renal m...	OMIM:227650
Opitz-Kaveggia Syndrome	Joint contracture of the hand, Broad thumb, Clinodactyly, Micrognathia, Sensorineural hearing imp...	OMIM:305450
Atherosclerosis, Premature, With Deafness, Nephropathy, Diabetes Mellitus, Photomyoclonus, And Degenerative Neurologic Disease	Nephropathy, Renal artery stenosis, Cerebral artery atherosclerosis, Coronary artery atherosclero...	OMIM:209010
Distal Duplication 6P	Low-set ears, Aplasia/Hypoplasia of the earlobes, Renal hypoplasia, Abnormality of the urinary sy...	ORPHA:1745
Lacrimoauriculodentodigital Syndrome 2	Cupped ear, Hearing impairment, Abnormal thumb morphology, Duplication of thumb phalanx, Microtia	OMIM:620192
Microcephaly, Short Stature, And Impaired Glucose Metabolism 2	Abnormal vertebral morphology, Renal hypoplasia, Hearing impairment, Increased vertebral height, ...	OMIM:616817
Immunodeficiency 43	Hypoplasia of the ulna, Radial bowing	OMIM:241600
Non-Distal Duplication 13Q	Aplasia/Hypoplasia of the earlobes, Micrognathia, Abnormal antihelix morphology, Microcephaly, Sh...	ORPHA:1702
Rhiny	Anteverted nares, Short nose	OMIM:180360
Ivic Syndrome	Aplastic clavicle, Synostosis of carpal bones, Short thumb, Hearing impairment, Preaxial hand pol...	ORPHA:2307
Charge Syndrome	Low-set ears, Micrognathia, Sensorineural hearing impairment, Radial head subluxation, Absent rad...	OMIM:214800
Fanconi Anemia, Complementation Group E	Absent thumb, Short thumb, Renal agenesis, Hearing impairment, Horseshoe kidney, Microcephaly, Ab...	OMIM:600901
Takenouchi-Kosaki Syndrome	Flared nostrils, Hypospadias, Unilateral renal agenesis, Wide nasal bridge, Dental malocclusion, ...	OMIM:616737
Mycophenolate Mofetil Embryopathy	Bifid thoracic vertebrae, Hearing impairment, Atresia of the external auditory canal, Anotia, Mic...	ORPHA:268249
Diaphanospondylodysostosis	Low-set ears, Nephrogenic rest, Bell-shaped thorax, Micrognathia, Talipes equinovarus, Lumbosacra...	OMIM:608022
Christian Syndrome	Thoracic hemivertebrae, Prominent metopic ridge, Scoliosis, Short middle phalanx of finger, Fused...	OMIM:309620
Solitary Bone Cyst	Abnormal ilium morphology, Abnormal form of the vertebral bodies, Abnormal tibia morphology, Lyti...	ORPHA:83468
Achondrogenesis, Type Ii	Broad long bones, Short tubular bones of the hand, Hypoplastic iliac wing, Absent vertebral body ...	OMIM:200610
Mast Cell Sarcoma	Hypoplasia of the ear cartilage	ORPHA:66661
Cerebrofacioarticular Syndrome	Wide nasal bridge, Osteopenia, Hypoplasia of the maxilla, Conductive hearing impairment, Tracheom...	ORPHA:314679
Radial Aplasia, X-Linked	Penile hypospadias, Absent radius	OMIM:312190
Deafness-Genital Anomalies-Metacarpal And Metatarsal Synostosis Syndrome	Abnormal vertebral morphology, Low-set ears, Toe syndactyly, Finger syndactyly, Sensorineural hea...	ORPHA:3224
Familial Osteodysplasia, Anderson Type	Aplastic clavicle, Mandibular prognathia, Bifid femur, Carious teeth, Abnormal form of the verteb...	ORPHA:2769
Igg4-Related Kidney Disease	Chronic kidney disease, Inflammatory abnormality of the skin, Lymphadenitis, Arteritis, Urethriti...	ORPHA:449395
Peroxisome Biogenesis Disorder 1A (Zellweger)	Low-set ears, Abnormal helix morphology, Hearing impairment, Bell-shaped thorax, Micrognathia, Se...	OMIM:214100
Spondylodysplastic Ehlers-Danlos Syndrome	Abnormal vertebral morphology, Low-set ears, Hearing impairment, Subluxation of the small joints ...	ORPHA:536471
Cardiofaciocutaneous Syndrome	Depressed nasal bridge, Palmoplantar keratoderma, Hypoplasia of the zygomatic bone, Macrotia, Fai...	ORPHA:1340
Intellectual Disability-Craniofacial Dysmorphism-Cryptorchidism Syndrome	Slender finger, Broad thumb, Umbilical hernia, Inguinal hernia, Cryptorchidism, Single transverse...	ORPHA:329224
Orofaciodigital Syndrome X	Finger aplasia, Retrognathia, Preaxial hand polydactyly, Fibular aplasia, Coalescence of tarsal b...	OMIM:165590
Apert Syndrome	Lambdoidal craniosynostosis, Delayed epiphyseal ossification, Broad thumb, Synostosis of carpal b...	OMIM:101200
Atelis Syndrome 1	Prominent nose, Carious teeth, Glue ear, Microtia	OMIM:620184
Fetal Alcohol Syndrome	Low-set, posteriorly rotated ears, Joint stiffness, Anteverted nares, Micrognathia, Microcephaly,...	ORPHA:1915
Hyperphosphatasia With Impaired Intellectual Development Syndrome 4	Wide nasal bridge, Broad nasal tip, Large earlobe, Microcephaly, Short nose	OMIM:615716
Focal Dermal Hypoplasia	Multicystic kidney dysplasia, Toe syndactyly, Finger syndactyly, Acute hepatic failure, Congenita...	ORPHA:2092
21Q22.11Q22.12 Microdeletion Syndrome	Acromesomelia, Low-set ears, Clinodactyly, Failure to thrive in infancy, Bulbous nose, Anteverted...	ORPHA:261323
Intellectual Developmental Disorder, X-Linked 30	Anteverted nares, Prominent nasal bridge, Microcephaly, Short nose, Macrotia	OMIM:300558
Short-Rib Thoracic Dysplasia 8 With Or Without Polydactyly	Depressed nasal bridge, Narrow chest, Failure to thrive, Lateral clavicle hook, Preaxial polydact...	OMIM:615503
Nephrogenic Diabetes Insipidus	Enuresis nocturna, Functional abnormality of the bladder, Hydroureter, Renal insufficiency, Hypos...	ORPHA:223
Shwachman-Diamond Syndrome 1	Nephrocalcinosis, Narrow chest, Elevated circulating hepatic transaminase concentration, Proximal...	OMIM:260400
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 1	Toe syndactyly, Ureterocele, Cryptorchidism, Absence of Stensen duct, Duplicated collecting syste...	OMIM:129900
Bruck Syndrome 2	Platyspondyly, Pectus carinatum, Hydroxyprolinuria, Elbow flexion contracture, Pterygium, Femoral...	OMIM:609220
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome	Platyspondyly, Ivory epiphyses, Hypoplastic ilia, Metaphyseal irregularity, Rhizomelia, Abnormal ...	ORPHA:85167
Foxg1 Syndrome Due To 14Q12 Microdeletion	Depressed nasal bridge, Bulbous nose, Abnormal antihelix morphology, Protruding ear, Microcephaly...	ORPHA:261144
Noonan Syndrome 4	Low-set ears, Depressed nasal bridge, Dental malocclusion, Abnormal sternum morphology, Large for...	OMIM:610733
Leukodystrophy, Hypomyelinating, 10	Low-set ears, Hypoplasia of the antihelix, Hearing impairment, Secondary microcephaly, Bulbous no...	OMIM:616420
Rin2 Syndrome	Umbilical hernia, Cryptorchidism, Aortic aneurysm, Pes planus, Brachydactyly, Hypergonadotropic h...	ORPHA:217335
Maternal Uniparental Disomy Of Chromosome 6	Slender long bone	ORPHA:96181
Zellweger Syndrome	Wide nasal bridge, Depressed nasal bridge, Multicystic kidney dysplasia, Hepatic failure, Failure...	ORPHA:912
Robinow Syndrome, Autosomal Recessive 2	Low-set ears, Wide nasal bridge, Broad nasal tip, Anteverted nares, Micrognathia, Camptodactyly, ...	OMIM:618529
Paget Disease Of Bone 5, Juvenile-Onset	Hydroxyprolinuria, Failure to thrive, Hearing impairment, Short humerus, Lateral femoral bowing, ...	OMIM:239000
Rothmund-Thomson Syndrome	Aplasia/Hypoplasia of the radius, Carious teeth, Short thumb, Delayed eruption of teeth, Abnormal...	ORPHA:2909
Severe X-Linked Intellectual Disability, Gustavson Type	Recurrent upper respiratory tract infections, Contractures of the large joints, Micrognathia, Pro...	ORPHA:3078
Buratti-Harel Syndrome	Low-set ears, Broad thumb, Broad hallux, Clinodactyly of the 5th finger, Posteriorly rotated ears...	OMIM:619314
Paget Disease Of Bone 2, Early-Onset	Fractures of the long bones, Femoral bowing, Osteosclerosis of the ulna, Bowing of the long bones...	OMIM:602080
Schinzel-Giedion Syndrome	Low-set ears, Abnormality of the outer ear, Abnormal helix morphology, Abnormality of the ureter,...	ORPHA:798
Thrombocytopenia 8, With Dysmorphic Features And Developmental Delay	Wide nasal bridge, Broad nasal tip, Hearing impairment, Bulbous nose, Overlapping toe, Posteriorl...	OMIM:620475
Neurodevelopmental Disorder With Spasticity And Poor Growth	Low-set ears, Failure to thrive, Large earlobe, Secondary microcephaly, Prominent nose, Anteverte...	OMIM:618076
Cornelia De Lange Syndrome 1	Low-set ears, Micrognathia, Sensorineural hearing impairment, Short neck, Dislocated radial head,...	OMIM:122470
Distal Duplication 18Q	Choanal atresia, Carious teeth, Camptodactyly of finger, Low-set, posteriorly rotated ears, Antev...	ORPHA:1716
Congenital Heart Defect-Round Face-Developmental Delay Syndrome	Depressed nasal ridge, Anteverted nares, Short nose	ORPHA:1355
Chromosome 3Q29 Duplication Syndrome	Wide nasal bridge, Bulbous nose, Microcephaly, Macrocephaly, Short nose	OMIM:611936
Edinburgh Malformation Syndrome	Low-set ears, Choanal atresia, Joint stiffness, Anteverted nares, Micrognathia, Short nose	ORPHA:1895
Spondylocostal Dysostosis 2, Autosomal Recessive	Vertebral segmentation defect, Rib fusion, Short neck, Vertebral clefting, Hemivertebrae	OMIM:608681
Congenital Disorder Of Glycosylation, Type Iiaa	Unilateral renal agenesis, Narrow chest, Hepatic fibrosis, Hepatic failure, Nodular regenerative ...	OMIM:620454
Baraitser-Winter Cerebrofrontofacial Syndrome	Wide nasal bridge, Hydroureter, Retrognathia, Failure to thrive, Delayed cranial suture closure, ...	ORPHA:2995
Fanconi Anemia, Complementation Group D2	Low-set ears, Small for gestational age, Absent thumb, Short thumb, Renal agenesis, Preaxial hand...	OMIM:227646
Diaphanospondylodysostosis	Enlarged thorax, Absent or minimally ossified vertebral bodies, Missing ribs, Short neck, Short t...	ORPHA:66637
Kabuki Syndrome	Small hand, Renal hypoplasia/aplasia, Sensorineural hearing impairment, Vertebral clefting, Dupli...	ORPHA:2322
Pelger-Huet Anomaly	Short 3rd metacarpal, Eczematoid dermatitis, Umbilical hernia, Upper limb undergrowth, Short 5th ...	OMIM:169400
Chondrodysplasia Punctata, Autosomal Dominant	Epiphyseal stippling, Knee flexion contracture, Hip contracture, Talipes equinovarus, Hypoplasia ...	OMIM:118650
Trisomy 8P	Clinodactyly of the 2nd finger, Abnormal middle ear morphology, Overlapping toe, Short neck, Shor...	ORPHA:264450
Skin Creases, Congenital Symmetric Circumferential, 2	Wide nasal bridge, Depressed nasal bridge, Low-set ears, Carious teeth, Ureterocele, Micrognathia...	OMIM:616734
Scarf Syndrome	Bifid scrotum, Umbilical hernia, Diastasis recti, Inguinal hernia, Cryptorchidism, Short sternum,...	ORPHA:3134
Intellectual Developmental Disorder, X-Linked 99, Syndromic, Female-Restricted	Wide nasal bridge, Choanal atresia, Small hand, Depressed nasal bridge, Low-set ears, Hearing imp...	OMIM:300968
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome	Low-set ears, Depressed nasal bridge, Small hand, Renal hypoplasia, Hepatic fibrosis, Elevated ci...	OMIM:620005
Deafness, Congenital, With Inner Ear Agenesis, Microtia, And Microdontia	Microtia, first degree, Aplasia of the inner ear, Peg-shaped maxillary lateral incisors, Prominen...	OMIM:610706
Diamond-Blackfan Anemia 15 With Mandibulofacial Dysostosis	Stenosis of the external auditory canal, Sensorineural hearing impairment, Mixed hearing impairme...	OMIM:606164
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome	Enlarged metaphyses, Abnormal ilium morphology, Hypoplasia of the odontoid process, Postaxial foo...	ORPHA:508533
Branchiootorenal Syndrome 1	Congenital hip dislocation, Unilateral renal agenesis, Renal malrotation, Abnormal renal collecti...	OMIM:113650
Fraser Syndrome	Abnormality of the outer ear, Toe syndactyly, Finger syndactyly, Atresia of the external auditory...	ORPHA:2052
Intellectual Developmental Disorder, Autosomal Dominant 53	Genu valgum, Hydronephrosis, Microcephaly, Macrocephaly, Micropenis, Short femur, Microtia	OMIM:617798
Vitamin D-Dependent Rickets, Type 2B, With Normal Vitamin D Receptor	Delayed epiphyseal ossification, Bulging epiphyses, Genu valgum, Fibular bowing, Femoral bowing, ...	OMIM:600785
Xylt1-Cdg	Broad thumb, Joint dislocation, Clinodactyly, Flared metaphysis, Broad ribs, Short clavicles, Mic...	ORPHA:370930
Lethal Hemolytic Anemia-Genital Anomalies Syndrome	Sandal gap, Abnormality of the ureter, Micrognathia, Splenomegaly, Renal hypoplasia/aplasia, Apla...	ORPHA:1046
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 3	Toe syndactyly, Ureterocele, Cryptorchidism, Absence of Stensen duct, Duplicated collecting syste...	OMIM:604292
Pycr2-Related Microcephaly-Progressive Leukoencephalopathy	Low-set ears, Hypoplasia of the maxilla, Hearing impairment, Bulbous nose, Wrist hypermobility, A...	ORPHA:481152
Congenital Disorder Of Glycosylation, Type Iie	Low-set ears, Retrognathia, Failure to thrive, Decreased liver function, Elevated circulating asp...	OMIM:608779
Cantú Syndrome	Platyspondyly, Short distal phalanx of finger, Narrow chest, Wide nasal bridge, Finger syndactyly...	ORPHA:1517
Cat Eye Syndrome	Low-set ears, Renal agenesis, Hearing impairment, Horseshoe kidney, Stenosis of the external audi...	OMIM:115470
Donnai-Barrow Syndrome	Abnormality of the uterus, Umbilical hernia, Congenital diaphragmatic hernia, Proteinuria, Omphal...	ORPHA:2143
Mckusick-Kaufman Syndrome	Multicystic kidney dysplasia, Postaxial foot polydactyly, Finger syndactyly, Hydrometrocolpos, Gl...	ORPHA:2473
Satoyoshi Syndrome	Abnormal epiphysis morphology, Abnormality of the uterus, Abnormality of the ovary, Abnormal hip ...	ORPHA:3130
17P13.3 Microduplication Syndrome	Low-set ears, Short nose, Wide nose	ORPHA:217385
Tetrasomy 18P	Low-set, posteriorly rotated ears, Microcephaly, Short nose	ORPHA:3307
Nevus Comedonicus Syndrome	Abnormal vertebral morphology, Toe syndactyly, Finger syndactyly, Preaxial polydactyly, Microceph...	ORPHA:64754
Classical-Like Ehlers-Danlos Syndrome Type 2	Cellulitis, Aortic root aneurysm, Periodontitis, Elbow dislocation, Prominent veins on trunk, Mic...	ORPHA:536532
Hirschsprung Disease, Cardiac Defects, And Autonomic Dysfunction	Cupped ear, Interphalangeal thumb joint contracture, Bulbous nose, Prominent nasal bridge, Flexio...	OMIM:613870
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 2	Low-set ears, Depressed nasal bridge, Recurrent upper respiratory tract infections, Retrognathia,...	OMIM:614069
Macs Syndrome	Dilation of Virchow-Robin spaces, Umbilical hernia, Recurrent aphthous stomatitis, Micrognathia, ...	OMIM:613075
1Q21.1 Microdeletion Syndrome	Wide nasal bridge, Broad thumb, Toe syndactyly, Failure to thrive, Bulbous nose, Clinodactyly of ...	ORPHA:250989
1P36 Deletion Syndrome	Delayed cranial suture closure, Abnormality of the spleen, Hepatic steatosis, Sensorineural heari...	ORPHA:1606
Spondylocostal Dysostosis 1, Autosomal Recessive	Block vertebrae, Abnormal odontoid process morphology, Kyphoscoliosis, Rib fusion, Vertebral segm...	OMIM:277300
Camptodactyly Syndrome, Guadalajara Type 3	Wide nasal base, Small hand, Broad nasal tip, Broad femoral neck, Broad columella, Retrognathia, ...	ORPHA:488434
Shprintzen-Goldberg Craniosynostosis Syndrome	Thin ribs, Low-set ears, Joint contracture of the hand, Genu valgum, Arachnodactyly, Talipes equi...	OMIM:182212
Severe Generalized Junctional Epidermolysis Bullosa	Abnormal fingertip morphology, Multicystic kidney dysplasia, Ureterocele, Urethral stricture, Dup...	ORPHA:79404
Congenital Disorder Of Glycosylation, Type Iu	Secondary microcephaly, Micrognathia, Congenital contracture, Short nose	OMIM:615042
Nasopalpebral Lipoma-Coloboma Syndrome	Low-set ears, Depressed nasal bridge, Hypoplasia of the maxilla, Wide nasal bridge, Cupped ear	OMIM:167730
Frank-Ter Haar Syndrome	Genu recurvatum, Camptodactyly of finger, Umbilical hernia, Inguinal hernia, Abnormal metacarpal ...	ORPHA:137834
Dubowitz Syndrome	Small hand, Toe syndactyly, Broad thumb, Hearing impairment, Delayed cranial suture closure, Micr...	ORPHA:235
Cardiofaciocutaneous Syndrome 1	Low-set ears, Hearing impairment, Micrognathia, Short neck, Short nose, Hyperextensibility of the...	OMIM:115150
Multicentric Carpotarsal Osteolysis Syndrome	Osteopenia, Hypoplasia of the maxilla, Carpal osteolysis, Metacarpal osteolysis, Metatarsal osteo...	OMIM:166300
Melorheostosis, Isolated	Increased bone mineral density, Hyperostosis	OMIM:155950
Idiopathic Congenital Hypothyroidism	Prolonged neonatal jaundice, Abnormal epiphysis morphology, Delayed proximal femoral epiphyseal o...	ORPHA:95717
Mucolipidosis Iii Alpha/Beta	Mandibular prognathia, Shallow acetabular fossae, Broad ribs, Irregular carpal bones, Spondylolis...	OMIM:252600
Radius, Aplasia Of, With Cleft Lip/Palate	Absent radius	OMIM:179400
Developmental Delay, Language Impairment, And Ocular Abnormalities	Hydronephrosis, Microcephaly, Contracture of the proximal interphalangeal joint of the 5th finger...	OMIM:620141
Intellectual Developmental Disorder, Autosomal Dominant 26	Umbilical hernia, Micrognathia, Inguinal hernia, Decreased palmar creases, Clinodactyly of the 5t...	OMIM:615834
Silver-Russell Syndrome Due To 11P15 Microduplication	Clinodactyly of the 5th finger, Umbilical hernia	ORPHA:231144
Myotonia With Skeletal Abnormalities And Impaired Intellectual Development	Pectus carinatum, Vertebral wedging, Irregular femoral epiphysis, Bell-shaped thorax, Genu valgum...	OMIM:255710
Floating-Harbor Syndrome	Low-set ears, Broad thumb, Carious teeth, Recurrent otitis media, Short neck, Broad fingertip, Di...	OMIM:136140
Cebalid Syndrome	Low-set ears, Depressed nasal ridge, Depressed nasal bridge, Hearing impairment, Anteverted nares...	OMIM:618774
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly	Natal tooth, Short tibia, Bell-shaped thorax, Flat acetabular roof, Macrotia, Horizontal ribs, Fi...	OMIM:616300
Floating-Harbor Syndrome	Low-set ears, Carious teeth, Dilatation of the renal pelvis, Clinodactyly, Short neck, Broad fing...	ORPHA:2044
Robinow Syndrome, Autosomal Dominant 1	Low-set ears, Bifid distal phalanx of toe, Small hand, Broad thumb, Clinodactyly, Micrognathia, S...	OMIM:180700
Spondylocostal Dysostosis 5	Pectus carinatum, Butterfly vertebrae, Missing ribs, Supernumerary ribs, Short neck, Low back pai...	OMIM:122600
Deafness-Intellectual Disability Syndrome, Martin-Probst Type	Renal hypoplasia, Bifid scrotum, Umbilical hernia, Micrognathia, Renal insufficiency, Cryptorchid...	ORPHA:85321
Nabais Sa-De Vries Syndrome, Type 1	Depressed nasal bridge, Hearing impairment, Bulbous nose, Prominent nasal bridge, Primary microce...	OMIM:618828
Trigonocephaly 1	Wide nasal bridge, Craniosynostosis, Microcephaly, Short nose	OMIM:190440
Cutis Laxa, Autosomal Recessive, Type Ia	Peripheral pulmonary artery stenosis, Vascular tortuosity, Umbilical hernia, Emphysema, Inguinal ...	OMIM:219100
Mayer-Rokitansky-Küster-Hauser Syndrome Type 2	Vertebral segmentation defect, Short neck, Hearing impairment, Abnormal rib morphology	ORPHA:2578
Dysostosis, Stanescu Type	Hypoplasia of the maxilla, Carious teeth, Hypoplasia of the zygomatic bone, Massively thickened l...	ORPHA:1798
Chromosome 17Q12 Deletion Syndrome	Multicystic kidney dysplasia, Micrognathia, Cryptorchidism, Ovarian cyst, Short foot, Long finger...	OMIM:614527
Pierre Robin Sequence With Pectus Excavatum And Rib And Scapular Anomalies	Joint hypermobility, Pectus excavatum, Hypoplastic distal segments of scapulae, Abnormal rib morp...	OMIM:602196
Branchiootic Syndrome 2	Abnormal pinna morphology, Hearing impairment	OMIM:120502
Short-Rib Thoracic Dysplasia 9 With Or Without Polydactyly	Clinodactyly of the 2nd finger, Absent middle phalanx of 5th finger, Cholestasis, Hepatosplenomeg...	OMIM:266920
Kinsship Syndrome	Low-set ears, Micrognathia, Short neck, Dislocated radial head, Hip dislocation, Bulbous nose, Fi...	OMIM:619297
Chanarin-Dorfman Syndrome	Microtia, Sensorineural hearing impairment	OMIM:275630
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal	Low-set ears, Lipid accumulation in hepatocytes, Elevated circulating alanine aminotransferase co...	OMIM:608836
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Microdeletion	Depressed nasal bridge, Thoracic hypoplasia, Retrognathia, Overlapping toe, Anteverted nares, Sin...	ORPHA:254528
Crouzon Syndrome	Choanal atresia, Hypoplasia of the maxilla, Conductive hearing impairment, Hearing impairment, Mu...	ORPHA:207
Wormian Bone-Multiple Fractures-Dentinogenesis Imperfecta-Skeletal Dysplasia	Toe clinodactyly, Dentinogenesis imperfecta, Upper limb undergrowth, Wormian bones, Short foot	ORPHA:166277
Osteosclerosis With Ichthyosis And Fractures	Cortical thickening of long bone diaphyses, Femoral bowing, Tibial bowing	OMIM:166740
Achondrogenesis, Type Ib	Hypoplastic ilia, Micromelia, Umbilical hernia, Inguinal hernia, Short ribs	OMIM:600972
Osteogenesis Imperfecta, Type Xxi	Platyspondyly, Bowing of the arm, Bell-shaped thorax, Barrel-shaped chest, Joint hypermobility, C...	OMIM:619131
Mullegama-Klein-Martinez Syndrome	Wide nasal bridge, Depressed nasal bridge, Low-set ears, Failure to thrive, Atresia of the extern...	OMIM:301022
Xanthinuria, Type I	Hydronephrosis, Pyelonephritis, Xanthine nephrolithiasis, Xanthinuria	OMIM:278300
Alg9-Cdg	Low-set ears, Delayed cranial suture closure, Large fleshy ears, Micrognathia, Talipes equinovaru...	ORPHA:79328
Multiple Pterygium Syndrome, X-Linked	Thin ribs, Low-set ears, Short finger, Increased susceptibility to fractures, Abnormal cervical c...	OMIM:312150
Cantu Syndrome	Erlenmeyer flask deformity of the femurs, Broad hallux, Umbilical hernia, Broad first metatarsal,...	OMIM:239850
Developmental Delay With Or Without Dysmorphic Facies And Autism	2-3 toe cutaneous syndactyly, Small scrotum, Renal hypoplasia, Microphallus, Umbilical hernia, Su...	OMIM:618454
Nasopalpebral Lipoma-Coloboma Syndrome	Low-set ears, Recurrent upper respiratory tract infections, Hypoplasia of the maxilla, Cupped ear...	ORPHA:2399
Peho Syndrome	Limitation of joint mobility, Anteverted nares, Malar flattening, Microcephaly, Biparietal narrow...	ORPHA:2836
Frontometaphyseal Dysplasia 2	Low-set ears, Broad thumb, Hip contracture, Sensorineural hearing impairment, Talipes equinovarus...	OMIM:617137
Meacham Syndrome	Abnormal vagina morphology, Hydrometrocolpos, Horseshoe kidney, Abnormality of the spleen, Crosse...	ORPHA:3097
Microcephaly-Capillary Malformation Syndrome	Low-set ears, Hypoplasia of the maxilla, Hearing impairment, Progressive microcephaly, Short nose...	OMIM:614261
Bent Bone Dysplasia Syndrome 1	Low-set ears, Coronal craniosynostosis, Bell-shaped thorax, Decreased calvarial ossification, Sho...	OMIM:614592
Dyrk1A-Related Intellectual Disability Syndrome	Toe syndactyly, Arachnodactyly, Hypospadias, Macrotia, Polydactyly, Protruding ear, Primary micro...	ORPHA:464306
Cerebrocostomandibular Syndrome	Low-set ears, Carious teeth, Bell-shaped thorax, Micrognathia, Ectopic kidney, Posterior rib gap,...	OMIM:117650
Mucopolysaccharidosis, Type Vi	Epiphyseal dysplasia, Hypoplasia of the odontoid process, Carious teeth, Hearing impairment, Hypo...	OMIM:253200
Gm1 Gangliosidosis Type 1	Low-set ears, Pectus carinatum, Platyspondyly, Hearing impairment, Macrotia, Beaking of vertebral...	ORPHA:79255
Ehlers-Danlos Syndrome, Classic Type, 1	Aortic root aneurysm, Cigarette-paper scars, Umbilical hernia, Inguinal hernia, Recurrent sinusit...	OMIM:130000
Intellectual Developmental Disorder, Autosomal Dominant 48	Recurrent pneumonia, Eczematoid dermatitis, Umbilical hernia, Recurrent otitis media, Hypospadias...	OMIM:617751
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome	Thin ribs, Low-set ears, Contracture of the distal interphalangeal joint of the fingers, Overlapp...	ORPHA:83617
Coffin-Siris Syndrome 1	Clitoral hypertrophy, Congenital diaphragmatic hernia, Cryptorchidism, Aplasia/Hypoplasia of the ...	OMIM:135900
Neurodevelopmental, Jaw, Eye, And Digital Syndrome	Renal hypoplasia, Sandal gap, Umbilical hernia, Micrognathia, Inguinal hernia, Joint contracture ...	OMIM:618914
X-Linked Cerebral-Cerebellar-Coloboma Syndrome	Low-set ears, Retrognathia, Thick nasal alae, Micrognathia, Posteriorly rotated ears, Short nose	ORPHA:163961
Sprengel Deformity	Rib segmentation abnormalities, Sprengel anomaly, Hemivertebrae, Spina bifida occulta, Cervical s...	OMIM:184400
Smith-Kingsmore Syndrome	Short distal phalanx of finger, Rhizomelia, Deep plantar creases, Umbilical hernia, Diastasis rec...	OMIM:616638
Loeys-Dietz Syndrome 6	Abdominal aortic aneurysm, Congenital diaphragmatic hernia, Arachnodactyly, Knee osteoarthritis, ...	OMIM:619656
Fanconi Anemia, Complementation Group W	Renal hypoplasia, Absent thumb, Polysplenia, Microcephaly, Hypoplasia of the radius, Abnormal rad...	OMIM:617784
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency	Abnormal metaphysis morphology, Long fibula, Pectus excavatum, Biparietal narrowing, Abnormality ...	ORPHA:935
Urban-Rogers-Meyer Syndrome	Toe syndactyly, Abnormal epiphysis morphology, Abnormal diaphysis morphology, Camptodactyly of fi...	ORPHA:3409
Multicystic Dysplastic Kidney	Unilateral renal agenesis, Multicystic kidney dysplasia, Ureterocele, Horseshoe kidney, Vesicoure...	ORPHA:1851
Noonan Syndrome-Like Disorder With Loose Anagen Hair	Carious teeth, Hearing impairment, Low-set, posteriorly rotated ears, Anteverted nares, Short nos...	ORPHA:2701
Igg4-Related Aortitis	Abnormal aortic arch morphology, Aortic dissection, Abnormal common carotid artery morphology, Hy...	ORPHA:449400
Hypomandibular Faciocranial Dysostosis	Coronal craniosynostosis, Hypoplasia of the maxilla, Micrognathia, Malar flattening, Choanal sten...	OMIM:241310
Neurofacioskeletal Syndrome With Or Without Renal Agenesis	Unilateral renal agenesis, Broad distal phalanx of finger, Hydroureter, Bilateral renal agenesis,...	OMIM:619194
Congenital Pulmonary Valvar Stenosis	Laryngeal stenosis	ORPHA:3189
Humerofemoral Hypoplasia With Radiotibial Ray Deficiency	Hypoplastic scapulae, Absent thumb, Elbow flexion contracture, Hypoplastic pelvis, Short clavicle...	OMIM:618022
Stapes Ankylosis With Broad Thumbs And Toes	Short distal phalanx of finger, Toe syndactyly, Broad thumb, Broad hallux, Underdeveloped nasal a...	OMIM:184460
Pfeiffer Syndrome Type 3	Low-set ears, Choanal atresia, Small hand, Broad thumb, Toe syndactyly, Finger syndactyly, Depres...	ORPHA:93260
46,Xy Sex Reversal 4	Depressed nasal ridge, Recurrent otitis media, Prominent nose, Anteverted nares, Micrognathia, Se...	OMIM:154230
Stuve-Wiedemann Syndrome 1	Thin ribs, Wide nasal base, Low-set ears, Carious teeth, Short tibia, Micrognathia, Metaphyseal r...	OMIM:601559
Developmental And Epileptic Encephalopathy 111	Umbilical hernia, Inguinal hernia, Cryptorchidism, Nephrolithiasis, Single transverse palmar crea...	OMIM:620504
Diamond-Blackfan Anemia 1	Delayed cranial suture closure, Micrognathia, Short neck, Small thenar eminence, Hypoplastic ilia...	OMIM:105650
Alopecia-Contractures-Dwarfism-Intellectual Disability Syndrome	Abnormal helix morphology, Synostosis of carpal bones, Finger syndactyly, Kyphosis, Short middle ...	ORPHA:1005
Hurler-Scheie Syndrome	Recurrent respiratory infections, Camptodactyly of finger, Umbilical hernia, Heparan sulfate excr...	OMIM:607015
Cole-Carpenter Syndrome 2	Lambdoidal craniosynostosis, Coronal craniosynostosis, Thin ribs, Osteopenia, Platyspondyly, Kyph...	OMIM:616294
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 1	Low-set ears, Abnormal ilium morphology, Short distal phalanx of finger, Depressed nasal bridge, ...	OMIM:614080
Tibial Hemimelia	Absent tibia	OMIM:275220
Contractures, Pterygia, And Spondylocarpotarsal Fusion Syndrome 1B	Talipes equinovarus, Short neck, Fused thoracic vertebrae, Antecubital pterygium, Tarsal synostos...	OMIM:618469
Osteopathia Striata-Cranial Sclerosis Syndrome	Low-set ears, Asymmetry of the thorax, High iliac wing, Coarse metaphyseal trabecularization, Con...	ORPHA:2780
Junctional Epidermolysis Bullosa With Pyloric Atresia	Ureterocele, Urinary bladder inflammation, Aplasia of the bladder, Congenital pyloric atresia, Re...	ORPHA:79403
Meckel Syndrome 12	Renal hypoplasia, Arthrogryposis multiplex congenita, Bilateral renal agenesis, Micrognathia, Vag...	OMIM:616258
Multiple Benign Circumferential Skin Creases On Limbs	Small scrotum, Lower limb asymmetry, Umbilical hernia, Micrognathia, Abnormal scrotum morphology,...	ORPHA:2505
Nablus Mask-Like Facial Syndrome	Low-set ears, Wide nasal bridge, Joint contracture of the hand, Depressed nasal bridge, Hypoplasi...	OMIM:608156
Desmosterolosis	Low-set ears, Depressed nasal bridge, Abnormality of the nose, Abnormal earlobe morphology, Retro...	ORPHA:35107
Lacrimoauriculodentodigital Syndrome	Low-set ears, Toe syndactyly, Carious teeth, Clinodactyly, Finger syndactyly, Micrognathia, Senso...	ORPHA:2363
Renal Agenesis	Unilateral renal agenesis, Absent vas deferens, Renal agenesis, Bilateral renal agenesis, Aplasia...	ORPHA:411709
Non-Eruption Of Teeth-Maxillary Hypoplasia-Genu Valgum Syndrome	Low-set, posteriorly rotated ears, Maxillozygomatic hypoplasia, Malar flattening, Delayed eruptio...	ORPHA:2972
Transient Neonatal Diabetes Mellitus	Abnormality of the urinary system, Abnormality of the kidney, Umbilical hernia	ORPHA:99886
Microcephaly-Cardiac Defect-Lung Malsegmentation Syndrome	Short distal phalanx of finger, Renal agenesis, Abnormal lung lobation, Micrognathia, Abnormal ao...	ORPHA:2516
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome	Hepatic failure, Abnormality of the uterus, Pancreatic lymphangiectasis, Vaginal atresia, Hepatos...	ORPHA:1655
Isotretinoin-Like Syndrome	Atresia of the external auditory canal, Anotia, Anteverted nares, Micrognathia, Microcephaly, Apl...	ORPHA:2306
Orofaciodigital Syndrome Iii	Low-set ears, Postaxial foot polydactyly, Short sternum, Postaxial hand polydactyly, Pectus excav...	OMIM:258850
Saethre-Chotzen Syndrome	Partial duplication of the distal phalanx of the 3rd finger, Lambdoidal craniosynostosis, Low-set...	OMIM:101400
Lacrimoauriculodentodigital Syndrome 3	Cupped ear, Short thumb, Hearing impairment, Partial duplication of thumb phalanx, Microtia	OMIM:620193
Patella Aplasia-Hypoplasia	Patellar aplasia, Patellar hypoplasia	OMIM:168860
3Mc Syndrome 1	Lambdoidal craniosynostosis, Coronal craniosynostosis, Short 5th finger, Caudal appendage, Hearin...	OMIM:257920
Van Esch-O'Driscoll Syndrome	Depressed nasal bridge, Retrognathia, Clinodactyly of the 5th finger, Protruding ear, Microcephal...	OMIM:301030
Agenesis Of The Corpus Callosum With Peripheral Neuropathy	Wide nasal bridge, Hypoplasia of the maxilla, Short nose, Flexion contracture, Macrotia	OMIM:218000
Chondrodysplasia With Joint Dislocations, Gpapp Type	Wide nasal bridge, Coronal craniosynostosis, Hearing impairment, Micrognathia, Limited elbow exte...	OMIM:614078
Intellectual Developmental Disorder With Microcephaly And With Or Without Ocular Malformations Or Hypogonadotropic Hypogonadism	Low-set ears, Depressed nasal bridge, Delayed eruption of teeth, Underdeveloped nasal alae, Antev...	OMIM:615866
Congenital Myopathy 17	Low-set ears, Hand clenching, Renal hypoplasia, Narrow chest, Dental malocclusion, Clinodactyly, ...	OMIM:618975
Tatton-Brown-Rahman Syndrome	Aortic root aneurysm, Widely spaced toes, Short toe, Umbilical hernia, Cryptorchidism, Patent duc...	ORPHA:404443
Fryns Syndrome	Abnormal aortic arch morphology, Multicystic kidney dysplasia, Short distal phalanx of finger, Te...	ORPHA:2059
X-Linked Ehlers-Danlos Syndrome	Hernia, Inguinal hernia, Umbilical hernia	ORPHA:75497
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation	Ankle flexion contracture, Hypospadias, Unilateral renal agenesis, Small for gestational age, Sho...	ORPHA:464311
Osteogenesis Imperfecta, Type Xvii	Platyspondyly, Dentinogenesis imperfecta, Thin metacarpal cortices, Hearing abnormality, Kyphosco...	OMIM:616507
Melanocytic Nevus Syndrome, Congenital	Broad nasal tip, Anteverted nares, Prominence of the premaxilla, Narrow nasal ridge, Short nose	OMIM:137550
Silver-Russell Syndrome 1	Decreased response to growth hormone stimulation test, Abnormality of the ureter, Micrognathia, N...	OMIM:180860
9q subtelomeric deletion syndrome	Microcephaly, Anteverted nares, Short nose	DECIPHER:52
Lipodystrophy, Congenital Generalized, Type 1	Clitoral hypertrophy, Elevated circulating hepatic transaminase concentration, Umbilical hernia, ...	OMIM:608594
22Q11.2 Duplication Syndrome	Depressed nasal ridge, Hearing impairment, Micrognathia, Wide nose, Anterior creases of earlobe, ...	ORPHA:1727
Ayme-Gripp Syndrome	Wide nasal bridge, Depressed nasal bridge, Low-set ears, Hearing impairment, Delayed cranial sutu...	OMIM:601088
Neurodegeneration And Seizures Due To Copper Transport Defect	Short tibia, Glandular hypospadias, Talipes equinovarus, Pneumothorax, Short femur, Pulmonary hyp...	OMIM:620306
Lethal Congenital Contracture Syndrome 10	Low-set ears, Narrow chest, Stiff neck, Broad ribs, Overlapping fingers, Femoral bowing, Thoracic...	OMIM:617022
Facial Dysmorphism-Shawl Scrotum-Joint Laxity Syndrome	Umbilical hernia, Genu valgum, Cryptorchidism, Cubitus valgus, Shawl scrotum	ORPHA:1778
Male Hypergonadotropic Hypogonadism-Intellectual Disability-Skeletal Anomalies Syndrome	Abnormal form of the vertebral bodies, Abnormality of the humeroulnar joint, Obesity, Eunuchoid h...	ORPHA:2234
Multiple Pterygium Syndrome, Lethal Type	Thin ribs, Low-set ears, Short finger, Increased susceptibility to fractures, Abnormal cervical c...	OMIM:253290
Oculocerebrocutaneous Syndrome	Short distal phalanx of finger, Congenital hip dislocation, Finger syndactyly, Hearing impairment...	ORPHA:1647
Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities	Low-set ears, Carious teeth, Grade III vesicoureteral reflux, Urethral stricture, Chordee, Broad ...	OMIM:619522
Neurodevelopmental Disorder With Structural Brain Anomalies And Dysmorphic Facies	Wide nasal bridge, Anteverted nares, Micrognathia, Unilambdoid synostosis, Short nose	OMIM:618577
Burn-Mckeown Syndrome	Wide nasal bridge, Prominent nasal bridge, Bilateral choanal atresia, Short nose	ORPHA:1200
Hurler Syndrome	Abnormal vertebral morphology, Wide nasal bridge, Depressed nasal bridge, Abnormal epiphysis morp...	ORPHA:93473
Hurler Syndrome	Hypoplasia of the odontoid process, Recurrent respiratory infections, Umbilical hernia, Recurrent...	OMIM:607014
Dislocation Of The Hip-Dysmorphism Syndrome	Wide nasal bridge, Depressed nasal ridge, Anteverted nares, Hearing abnormality, Malar flattening...	ORPHA:2412
Linear Skin Defects With Multiple Congenital Anomalies 2	Microcephaly, Posteriorly rotated ears, Short nose	OMIM:300887
Smith-Lemli-Opitz Syndrome	Multicystic kidney dysplasia, Postaxial foot polydactyly, Finger syndactyly, Micrognathia, Renal ...	ORPHA:818
Williams-Beuren Region Duplication Syndrome	Unilateral renal agenesis, Decreased response to growth hormone stimulation test, Micrognathia, C...	OMIM:609757
Congenital Contractures Of The Limbs And Face, Hypotonia, And Developmental Delay	Congenital contracture, Umbilical hernia, Elbow flexion contracture, 11 pairs of ribs, Micrognath...	OMIM:616266
Schwartz-Jampel Syndrome	Elbow dislocation, Abnormality of the ureter, Genu valgum, Micrognathia, Hip contracture, Decreas...	ORPHA:800
Kbg Syndrome	Radial deviation of finger, Cervical ribs, Macrotia, Ulnar deviation of the 2nd finger, Thoracic ...	OMIM:148050
Meckel Syndrome, Type 8	Low-set ears, Microcephaly, Depressed nasal ridge, Short nose	OMIM:613885
Proximal 16P11.2 Microdeletion Syndrome	Abnormal vertebral morphology, Multicystic kidney dysplasia, Conductive hearing impairment, Failu...	ORPHA:261197
Vertebral Hypersegmentation And Orofacial Anomalies	Prominent occiput, Joint hypermobility, Supernumerary ribs, Scapular winging, Six lumbar vertebra...	OMIM:619122
Peters-Plus Syndrome	Low-set ears, Square pelvis bone, Hearing impairment, Micrognathia, Limited elbow movement, Decre...	OMIM:261540
Short-Rib Thoracic Dysplasia 21 Without Polydactyly	Small pituitary gland, Trident pelvis, Short humerus, Bowed humerus, Brachydactyly, Short long bo...	OMIM:619479
Antley-Bixler Syndrome Without Genital Anomalies Or Disordered Steroidogenesis	Lambdoidal craniosynostosis, Coronal craniosynostosis, Narrow chest, Choanal atresia, Narrow pelv...	OMIM:207410
Orofaciodigital Syndrome Xiv	Low-set ears, Microretrognathia, Natal tooth, Broad hallux, Preaxial polydactyly, Unilateral rena...	OMIM:615948
Townes-Brocks Syndrome	Abnormal vertebral morphology, Toe syndactyly, Broad thumb, Hearing impairment, Abnormality of th...	ORPHA:857
Lenz-Majewski Hyperostotic Dwarfism	Delayed cranial suture closure, Cutaneous finger syndactyly, Micrognathia, Humeroradial synostosi...	OMIM:151050
Calvarial Doughnut Lesions With Bone Fragility	Platyspondyly, Femoral bowing, Scoliosis, Carious teeth	OMIM:126550
Mucopolysaccharidosis, Type Vii	Hypoplasia of the odontoid process, Hearing impairment, Recurrent otitis media, Genu valgum, Urin...	OMIM:253220
Autosomal Recessive Spastic Paraplegia Type 20	Low-set ears, Clinodactyly, Abnormal hand morphology, Prominent nose, Genu valgum, Abnormal thumb...	ORPHA:101000
Chromosome 18Q Deletion Syndrome	Atopic dermatitis, Toe syndactyly, Umbilical hernia, Proximal placement of thumb, Decreased respo...	OMIM:601808
Velocardiofacial Syndrome	Interrupted aortic arch, Right aortic arch with mirror image branching, Umbilical hernia, Tetralo...	OMIM:192430
C Syndrome	Multicystic kidney dysplasia, Toe syndactyly, Micrognathia, Bilateral single transverse palmar cr...	ORPHA:1308
Opitz Gbbb Syndrome	Abnormality of the urinary system, Aortic root aneurysm, Bifid scrotum, Umbilical hernia, Microgn...	ORPHA:2745
Townes-Brocks Syndrome 2	Overfolded helix, Cupped ear, Microtia	OMIM:617466
Patent Ductus Arteriosus And Bicuspid Aortic Valve With Hand Anomalies	Short toe, Short finger, Short 5th metacarpal, Pseudocoarctation of the aorta, Brachydactyly, Cli...	OMIM:604381
Fanconi Anemia, Complementation Group P	Absent thumb, Short thumb, Hearing impairment, Horseshoe kidney, Bulbous nose, Micrognathia, Micr...	OMIM:613951
Deafness-Epiphyseal Dysplasia-Short Stature Syndrome	Abnormal femoral epiphysis morphology, Hearing impairment, Abnormal form of the vertebral bodies,...	ORPHA:3218
Robinow Syndrome, Autosomal Dominant 2	Short distal phalanx of finger, Broad thumb, Clinodactyly, Umbilical hernia, Micrognathia, Partia...	OMIM:616331
Ruvalcaba Syndrome	Small hand, Micromelia, Limited elbow extension, Inguinal hernia, Cryptorchidism, Short foot, Sho...	OMIM:180870
X-Linked Intellectual Disability Due To Gria3 Mutations	Genu recurvatum, Macrodontia of permanent maxillary central incisor, Mandibular prognathia, Slend...	ORPHA:364028
Intellectual Developmental Disorder, X-Linked 91	Short nose	OMIM:300577
Autosomal Recessive Multiple Pterygium Syndrome	Small scrotum, Finger syndactyly, Camptodactyly of finger, Umbilical hernia, Abnormal foot morpho...	ORPHA:2990
Geroderma Osteodysplasticum	Platyspondyly, Hypoplasia of the maxilla, Hyperextensibility of the finger joints, Femoral bowing...	OMIM:231070
Penoscrotal Transposition	Penoscrotal transposition, Abnormality of the urethra, Renal agenesis, Abnormality of the ureter,...	ORPHA:2842
Autosomal Dominant Intellectual Disability-Craniofacial Anomalies-Cardiac Defects Syndrome	Broad nasal tip, Microretrognathia, Low-set, posteriorly rotated ears, Prominent nasal bridge, Hy...	ORPHA:457193
Spinocerebellar Ataxia 42, Early-Onset, Severe, With Neurodevelopmental Deficits	Microcephaly, Anteverted ears, Mandibular prognathia, Short nose	OMIM:618087
Intellectual Developmental Disorder, X-Linked, Syndromic, Claes-Jensen Type	Recurrent upper respiratory tract infections, Hypoplasia of the maxilla, Prominent nasal bridge, ...	OMIM:300534
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency	Abnormal vertebral morphology, Low-set ears, Hypoplastic scapulae, Dilatation of the renal pelvis...	ORPHA:95699
Short-Rib Thoracic Dysplasia 12	Low-set ears, Hypoplastic scapulae, Natal tooth, Short neck, Short palm, Hepatomegaly, Short foot...	OMIM:269860
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 1	Low-set ears, Osteopenia, Conductive hearing impairment, Anteverted nares, Anterior open-bite mal...	OMIM:617877
Multiple Pterygium-Malignant Hyperthermia Syndrome	Ulnar deviation of finger, Plagiocephaly, Conductive hearing impairment, Finger syndactyly, Arthr...	ORPHA:2215
Pallister-Hall Syndrome	Toe syndactyly, Broad thumb, Radial bowing, Natal tooth, Atresia of the external auditory canal, ...	ORPHA:672
Orofaciodigital Syndrome Type 4	Aplasia/Hypoplasia of the tibia, Low-set ears, Abnormality of the outer ear, Finger syndactyly, A...	ORPHA:2753
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly	Wide nasal bridge, Low-set ears, Narrow chest, Hepatic failure, Pancreatic lymphangiectasis, Micr...	OMIM:235255
Mandibulofacial Dysostosis With Ptosis, Autosomal Dominant	Joint contracture of the hand, Conductive hearing impairment, Atresia of the external auditory ca...	OMIM:608257
Bor Syndrome	Multicystic kidney dysplasia, Branchial cyst, Vesicoureteral reflux, Renal insufficiency, Uretero...	ORPHA:107
Onychodystrophy, Osteodystrophy, Impaired Intellectual Development, And Seizures Syndrome	Anteverted nares, Micrognathia, Microcephaly, Delayed eruption of permanent teeth, Short nose	OMIM:619356
Crouzon Syndrome	Lambdoidal craniosynostosis, Coronal craniosynostosis, Hypoplasia of the maxilla, Conductive hear...	OMIM:123500
Yunis-Varon Syndrome	Low-set ears, Hypoplastic scapulae, Toe syndactyly, Clinodactyly, Micrognathia, Bilateral single ...	OMIM:216340
1P21.3 Microdeletion Syndrome	Broad nasal tip, Long ear, Micrognathia, Joint hypermobility, Macrocephaly, Short nose	ORPHA:293948
7Q11.23 Microduplication Syndrome	Hearing impairment, Abnormal earlobe morphology, Micrognathia, Short neck, Hypospadias, Chronic o...	ORPHA:96121
Hydrocephaly-Tall Stature-Joint Laxity Syndrome	Arachnodactyly, Shoulder dislocation, Adducted thumb, Umbilical hernia	ORPHA:2181
Baraitser-Winter Syndrome 1	Low-set ears, Wide nasal bridge, Retrognathia, Anteverted nares, Sensorineural hearing impairment...	OMIM:243310
Hepatic Fibrosis-Renal Cysts-Intellectual Disability Syndrome	Underdeveloped nasal alae, Low-set, posteriorly rotated ears, Anteverted nares, Hearing abnormali...	ORPHA:2031
Intellectual Disability-Obesity-Prognathism-Eye And Skin Anomalies Syndrome	Hypoplasia of the maxilla, Mandibular prognathia, Macrocephaly	ORPHA:397973
Microcephaly 27, Primary, Autosomal Dominant	Short finger, Cryptorchidism, Metatarsus adductus, Micropenis, Clinodactyly of the 5th finger, Hi...	OMIM:619180
Pseudo-Torch Syndrome 1	Microretrognathia, Elevated circulating hepatic transaminase concentration, Decreased liver funct...	OMIM:251290
2Q31.1 Microdeletion Syndrome	Low-set ears, Toe syndactyly, Finger syndactyly, Abnormal tibia morphology, Micrognathia, Short n...	ORPHA:251014
Hereditary Xanthinuria	Decreased urinary urate, Acute kidney injury, Rheumatoid arthritis, Recurrent urinary tract infec...	ORPHA:3467
Craniofacial-Deafness-Hand Syndrome	Depressed nasal bridge, Hypoplasia of the maxilla, Narrow naris, Malar flattening, Sensorineural ...	OMIM:122880
Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans	Platyspondyly, Wide anterior fontanel, Rhizomelia, Narrow chest, Depressed nasal bridge, Hearing ...	OMIM:616482
Coffin-Lowry Syndrome	Thick nasal septum, Hearing impairment, Decreased body weight, Sensorineural hearing impairment, ...	OMIM:303600
Isolated Splenogonadal Fusion	Abnormal penis morphology, Testicular mass, Polysplenia, Bilateral cryptorchidism, Abnormal scrot...	ORPHA:457083
Khan-Khan-Katsanis Syndrome	Renal hypoplasia, Clinodactyly, Failure to thrive, Micrognathia, Vesicoureteral reflux, Sensorine...	OMIM:618460
Intellectual Developmental Disorder With Impaired Language And Dysmorphic Facies	Low-set ears, Tibial torsion, Delayed cranial suture closure, Overlapping toe, Obesity, Vesicoure...	OMIM:618653
Fryns Syndrome	Thin ribs, Low-set ears, Joint contracture of the hand, Abnormal helix morphology, Short neck, Hy...	OMIM:229850
Primary Microcephaly-Mild Intellectual Disability-Young-Onset Diabetes Syndrome	Anteverted nares, Micrognathia, Sensorineural hearing impairment, Joint hypermobility, Microcepha...	ORPHA:391408
7Q31 Microdeletion Syndrome	Low-set ears, Hypoplasia of the maxilla, Childhood onset sensorineural hearing impairment, Enlarg...	ORPHA:251061
Acrodysplasia Scoliosis	Spina bifida occulta, Scoliosis, Brachydactyly, Vertebral segmentation defect	ORPHA:2956
Geleophysic Dysplasia 1	Platyspondyly, Laryngotracheal stenosis, Joint contracture of the hand, Cone-shaped epiphysis, Wi...	OMIM:231050
Cockayne Syndrome Type 3	Vascular calcification, Unilateral renal agenesis, Renal hypoplasia, Elevated circulating hepatic...	ORPHA:90324
Gaucher Disease, Perinatal Lethal	Low-set ears, Depressed nasal bridge, Retrognathia, Anteverted nares, Micrognathia, Microcephaly,...	OMIM:608013
Camurati-Engelmann Disease	Carious teeth, Hearing impairment, Abnormal tibia morphology, Slender build, Genu valgum, Cachexi...	ORPHA:1328
Osteogenesis Imperfecta, Type Xiv	Femoral bowing, Scoliosis	OMIM:615066
8Q24.3 Microdeletion Syndrome	Ectopic posterior pituitary, Branchial cyst, Talipes, Pes planus, Short hallux, Abnormality of th...	ORPHA:508488
Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome	Recurrent upper respiratory tract infections, Eczematoid dermatitis, Rhizomelic arm shortening, S...	ORPHA:508542
Jacobsen Syndrome	Aplasia/Hypoplasia of the earlobes, Multicystic kidney dysplasia, Toe syndactyly, Finger syndacty...	ORPHA:2308
Intellectual Developmental Disorder With Cardiac Defects And Dysmorphic Facies	Low-set ears, Wide nasal bridge, Depressed nasal bridge, Large earlobe, Prominent nose, Anteverte...	OMIM:618316
Hypocalcemic Vitamin D-Dependent Rickets	Delayed epiphyseal ossification, Subperiosteal bone resorption, Generalized aminoaciduria, Rachit...	ORPHA:289157
Beemer-Ertbruggen Syndrome	Wide nasal bridge, Low-set, posteriorly rotated ears, Bulbous nose, Micrognathia, Increased bone ...	ORPHA:1237
Lacrimoauriculodentodigital Syndrome 1	Bilateral triphalangeal thumbs, Carious teeth, Hearing impairment, Delayed eruption of primary te...	OMIM:149730
Cartilage-Hair Hypoplasia	Asymmetry of the thorax, Abnormal pelvic girdle bone morphology, Hypoplasia of the odontoid proce...	OMIM:250250
Diamond-Blackfan Anemia 10	Low-set ears, Choanal atresia, Conductive hearing impairment, Atresia of the external auditory ca...	OMIM:613309
Multiple Pterygium Syndrome, Escobar Variant	Talipes calcaneovalgus, Micrognathia, Dysplastic patella, Congenital diaphragmatic hernia, Patell...	OMIM:265000
Scalp-Ear-Nipple Syndrome	Low-set ears, Broad thumb, Finger syndactyly, Underdeveloped tragus, Renal insufficiency, Protrud...	OMIM:181270
Glutamine Deficiency, Congenital	Low-set ears, Wide nasal bridge, Depressed nasal bridge, Anteverted nares, Camptodactyly, Flexion...	OMIM:610015
Ring Chromosome Y Syndrome	Male hypogonadism, Abnormality of the male genitalia, Bifid scrotum, Gonadal dysgenesis, Unilater...	ORPHA:261529
Senior-Loken Syndrome 9	Hepatic fibrosis, Nephronophthisis, Hypogonadism, Cholestasis, Stage 5 chronic kidney disease, Ch...	OMIM:616629
Mosaic Trisomy 16	Hypospadias, Short forearm, Clinodactyly, Short thumb, Abnormality of the nose, Horseshoe kidney,...	ORPHA:1708
Mannosidosis, Alpha B, Lysosomal	Thoracolumbar kyphosis, Abnormal rib cage morphology, Pectus carinatum, Depressed nasal ridge, In...	OMIM:248500
Cutis Laxa, Autosomal Recessive, Type Ic	Accessory spleen, Morgagni diaphragmatic hernia, Multiple bladder diverticula, Peripheral pulmona...	OMIM:613177
Sclerosteosis 1	Broad clavicles, Abnormal pelvic girdle bone morphology, Deviation of finger, Hearing impairment,...	OMIM:269500
Distal 7Q11.23 Microduplication Syndrome	Cryptorchidism, Congenital diaphragmatic hernia, Aortic aneurysm, Frontal encephalocele, Patent d...	ORPHA:261102
Short Rib-Polydactyly Syndrome, Verma-Naumoff Type	Abnormal pelvis bone ossification, Micrognathia, Congenital hepatic fibrosis, Short foot, Wide no...	ORPHA:93271
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome	Abnormal vertebral morphology, Small hand, Hearing impairment, Micrognathia, Sensorineural hearin...	ORPHA:444077
Patent Ductus Arteriosus-Bicuspid Aortic Valve-Hand Anomalies Syndrome	Abnormal hand morphology, Short 5th metacarpal, Pseudocoarctation of the aorta, Short digit, Clin...	ORPHA:228190
Amyloidosis, Finnish Type	Urolithiasis, Stage 5 chronic kidney disease, Renal insufficiency, Nephrotic syndrome, Renal glom...	OMIM:105120
Intestinal Pseudoobstruction, Neuronal, Chronic Idiopathic, X-Linked	Congenital shortened small intestine, Intestinal pseudo-obstruction, Intestinal malrotation, Hydr...	OMIM:300048
Congenital Sialidosis Type 2	Umbilical hernia, Cherry red spot of the macula, Hepatosplenomegaly, Inguinal hernia, Respiratory...	ORPHA:93400
Fanconi Anemia, Complementation Group N	Unilateral renal agenesis, Absent thumb, Short thumb, Horseshoe kidney, Nephroblastoma, Microceph...	OMIM:610832
Encephalopathy Due To Sulfite Oxidase Deficiency	Microcephaly, Short nose	ORPHA:833
Hemangiomas, Cavernous, Of Face And Supraumbilical Midline Raphe	Bifid sternum, Supraumbilical raphe	OMIM:140850
Yunis-Varon Syndrome	Low-set ears, Hearing impairment, Aplasia of the distal phalanx of the hallux, Micrognathia, Seve...	ORPHA:3472
Mucopolysaccharidosis, Type Iiia	Recurrent upper respiratory tract infections, Umbilical hernia, Heparan sulfate excretion in urin...	OMIM:252900
Congenital Hypothyroidism Due To Maternal Intake Of Antithyroid Drugs	Delayed epiphyseal ossification, Abnormal epiphysis morphology, Goiter, Umbilical hernia, Prolong...	ORPHA:226313
Muscular Pseudohypertrophy-Hypothyroidism Syndrome	Jaundice, Umbilical hernia	ORPHA:2349
Neurofibromatosis Type 1	Slender long bone, Hearing impairment, Abnormal hip bone morphology, Genu valgum, Hearing abnorma...	ORPHA:636
Gorlin Syndrome	Abnormal vertebral morphology, Wide nasal bridge, Mandibular prognathia, Carious teeth, Palmar pi...	ORPHA:377
Pallister-Hall-Like Syndrome	Depressed nasal bridge, Micrognathia, Microcephaly, Macrocephaly, Short nose	OMIM:241800
Geleophysic Dysplasia 3	Epiphyseal dysplasia, Wide nasal bridge, Depressed nasal bridge, Bulbous nose, Anteverted nares, ...	OMIM:617809
Lipodystrophy, Congenital Generalized, Type 2	Clitoral hypertrophy, Elevated circulating hepatic transaminase concentration, Umbilical hernia, ...	OMIM:269700
Verheij Syndrome	Wide nasal bridge, Broad nasal tip, Retrognathia, Anteverted nares, Joint hypermobility, Microcep...	OMIM:615583
Mucopolysaccharidosis, Type Ii	Recurrent pneumonia, Umbilical hernia, Recurrent otitis media, Heparan sulfate excretion in urine...	OMIM:309900
Pagod Syndrome	Multicystic kidney dysplasia, Pulmonary artery hypoplasia, Abnormality of the uterus, Abnormal mo...	ORPHA:991
Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency	Arthrogryposis-like hand anomaly, Clinodactyly, Umbilical hernia, Abnormal foot morphology, Crypt...	ORPHA:369891
Ellis-Van Creveld Syndrome	Pectus carinatum, Narrow chest, Postaxial foot polydactyly, Natal tooth, Delayed eruption of teet...	OMIM:225500
Malan Syndrome	Retrognathia, Hyperplasia of the premaxilla, Advanced eruption of teeth, Macrocephaly, Mandibular...	OMIM:614753
Xerosis And Growth Failure With Immune And Pulmonary Dysfunction Syndrome	Hypoplastic nasal bridge, Reduced bone mineral density, Retrognathia, Microtia	OMIM:620510
Fetal Hydantoin Syndrome	Depressed nasal ridge, Low-set, posteriorly rotated ears, Hearing abnormality, Microcephaly, Abno...	ORPHA:1912
Orofaciodigital Syndrome Type 14	Postaxial foot polydactyly, Microretrognathia, Broad hallux, Low-set, posteriorly rotated ears, B...	ORPHA:434179
Diamond-Blackfan Anemia	Wide nasal bridge, Depressed nasal bridge, Low-set ears, Absent thumb, Short thumb, Renal agenesi...	ORPHA:124
Blepharophimosis-Intellectual Disability Syndrome, Ohdo Type	Abnormality of the outer ear, Hearing impairment, Recurrent otitis media, Microcephaly, Hypoplasi...	ORPHA:2728
Isolated Arrhinia	Underdeveloped nasal alae, Midline defect of the nose, Aplasia/Hypoplasia of the nasal septum, Hy...	ORPHA:1134
Feingold Syndrome	Deviation of the 2nd finger, Depressed nasal bridge, Toe syndactyly, Annular pancreas, Abnormal f...	ORPHA:1305
Shprintzen-Goldberg Syndrome	Low-set ears, Osteopenia, Hypoplasia of the maxilla, Conductive hearing impairment, Retrognathia,...	ORPHA:2462
Feingold Syndrome Type 1	Toe syndactyly, Abnormality of the kidney, Anal atresia, Duodenal atresia, Patent ductus arterios...	ORPHA:391641
Crouzon Syndrome-Acanthosis Nigricans Syndrome	Choanal atresia, Hypoplasia of the maxilla, Conductive hearing impairment, Malar flattening, Conv...	ORPHA:93262
Trichohepatoenteric Syndrome 1	Low-set ears, Galactosuria, Depressed nasal ridge, Hepatic fibrosis, Hepatic failure, Failure to ...	OMIM:222470
Townes-Brocks Syndrome 1	Multicystic kidney dysplasia, Broad thumb, Pseudoepiphyses of second metacarpal, Lop ear, Sensori...	OMIM:107480
Charge Syndrome	Aplasia/Hypoplasia of the earlobes, Hearing impairment, Abnormal tibia morphology, Abnormal pinna...	ORPHA:138
Odontochondrodysplasia	Depressed nasal bridge, Dentinogenesis imperfecta, Delayed eruption of teeth, Retrognathia, Joint...	ORPHA:166272
Simpson-Golabi-Behmel Syndrome, Type 1	Broad thumb, Hearing impairment, Talipes equinovarus, 2-3 finger syndactyly, Hepatoblastoma, Broa...	OMIM:312870
Diphallia	Penoscrotal transposition, Renal malrotation, Absent thumb, Bifid scrotum, Horseshoe kidney, Dist...	ORPHA:227
Ichthyosis Follicularis-Alopecia-Photophobia Syndrome	Cryptorchidism, Scleritis, Abnormality of the kidney, Abnormal pelvis bone morphology, Hydrourete...	ORPHA:2273
Hemihyperplasia-Multiple Lipomatosis Syndrome	Macrodactyly, 2-4 toe syndactyly, Nephroblastoma, Foot polydactyly, Scoliosis, Enlarged kidney, M...	ORPHA:276280
Developmental Delay With Variable Intellectual Impairment And Behavioral Abnormalities	Low-set ears, Depressed nasal bridge, Bulbous nose, Macrocephaly, Posteriorly rotated ears, Short...	OMIM:618430
Gomez-Lopez-Hernandez Syndrome	Low-set ears, Anteverted nares, Malar flattening, Craniosynostosis, Posteriorly rotated ears, Sho...	OMIM:601853
Joint Laxity, Short Stature, And Myopia	Talipes equinovarus, Inguinal hernia, Umbilical hernia	OMIM:617662
Cataract-Intellectual Disability-Anal Atresia-Urinary Defects Syndrome	Tetralogy of Fallot, Genu valgum, Cryptorchidism, Hypoplasia of penis, Hypospadias	ORPHA:1381
Fraser Syndrome 1	Low-set ears, Atresia of the external auditory canal, Aplasia/Hypoplasia of the sternum, Abnormal...	OMIM:219000
Branchial Arch Abnormalities, Choanal Atresia, Athelia, Hearing Loss, And Hypothyroidism Syndrome	Low-set ears, Carious teeth, Natal tooth, Clinodactyly, Atresia of the external auditory canal, B...	OMIM:620186
Pycnodysostosis	Coronal craniosynostosis, Hypoplasia of the maxilla, Carious teeth, Dental malocclusion, Prominen...	ORPHA:763
Satb2-Associated Syndrome Due To A Chromosomal Rearrangement	Low-set ears, Abnormality of the outer ear, Small hand, Broad thumb, Micrognathia, Talipes equino...	ORPHA:251028
Cutis Laxa, Autosomal Recessive, Type Iiia	Congenital hip dislocation, Umbilical hernia, Inguinal hernia, Cryptorchidism, Talipes equinovaru...	OMIM:219150
Chromosome 19Q13.11 Deletion Syndrome, Distal	Low-set ears, Wide nasal bridge, Carious teeth, Retrognathia, Underdeveloped nasal alae, Antevert...	OMIM:613026
Occipital Horn Syndrome	Cholestasis, Humerus varus, Genu valgum, Esophagitis, Pes planus, Abnormal fibula morphology, Jau...	ORPHA:198
Trisomy 18	Pointed helix, Choanal atresia, Microretrognathia, Deviation of finger, Abnormal rib morphology, ...	ORPHA:3380
Dysmorphism-Short Stature-Deafness-Difference Of Sex Development Syndrome	Wide nasal bridge, Hearing impairment, Anteverted nares, Micrognathia, Microcephaly, Short nose, ...	ORPHA:2282
Micro Syndrome	Wide nasal bridge, Low-set, posteriorly rotated ears, Joint stiffness, Anteverted nares, Microgna...	ORPHA:2510
Fibrous Dysplasia Of Bone	Hearing impairment, Osteomalacia, Abnormal tibia morphology, Bowing of the long bones, Abnormal m...	ORPHA:249
Kleefstra Syndrome	Mandibular prognathia, Delayed eruption of teeth, Hearing impairment, Anteverted nares, Obesity, ...	ORPHA:261494
Mucolipidosis Ii Alpha/Beta	Bullet-shaped phalanges of the hand, Hypoplastic scapulae, Hypoplasia of the odontoid process, My...	OMIM:252500
Hemifacial Hyperplasia	Hypoplasia of the maxilla, Dental malocclusion	OMIM:133900
Trichothiodystrophy 4, Nonphotosensitive	Retrognathia, Anteverted nares, Microcephaly, Short nose, Hypoplasia of teeth, Macrotia	OMIM:234050
Koolen-De Vries Syndrome Due To A Point Mutation	Hearing impairment, Recurrent otitis media, Slender build, Pear-shaped nose, Hand muscle atrophy,...	ORPHA:363965
17Q21.31 Microdeletion Syndrome	Hearing impairment, Recurrent otitis media, Slender build, Pear-shaped nose, Hand muscle atrophy,...	ORPHA:363958
Coffin-Siris Syndrome 3	Short distal phalanx of the 5th finger, Central diaphragmatic hernia, Inguinal hernia, Umbilical ...	OMIM:614608
16P11.2P12.2 Microdeletion Syndrome	Low-set ears, Microretrognathia, Hearing impairment, Camptodactyly of finger, Bulbous nose, Antev...	ORPHA:261211
Periventricular Nodular Heterotopia 7	Microretrognathia, Contracture of the proximal interphalangeal joint of the 2nd finger, Elbow con...	OMIM:617201
Leukocyte Adhesion Deficiency Type Ii	Wide nasal bridge, Depressed nasal ridge, Depressed nasal bridge, Small earlobe, Conductive heari...	ORPHA:99843
Aortic Aneurysm, Familial Thoracic 4	Aortic dissection, Anterior cerebral artery stenosis, Coronary artery atherosclerosis, Stroke, Po...	OMIM:132900
Momo Syndrome	Wide nasal base, Dental malocclusion, Delayed eruption of teeth, Obesity, Femoral bowing, Large f...	ORPHA:2563
Cerebrofaciothoracic Dysplasia	Narrow chest, Low-set, posteriorly rotated ears, Vertebral segmentation defect, Rib fusion, Brach...	ORPHA:1394
Chand Syndrome	Short fifth metatarsal, Imperforate hymen, Hydroureter, Atelectasis	ORPHA:1401
Hypogonadism, Male, With Impaired Intellectual Development And Skeletal Anomalies	Superior rib anomalies	OMIM:307500
Neutropenia, Severe Congenital, 4, Autosomal Recessive	Broad thumb, Clinodactyly, Hepatosplenomegaly, Cryptorchidism, Hepatomegaly, Recurrent lower resp...	OMIM:612541
Loeys-Dietz Syndrome 2	Joint contracture of the hand, Aortic root aneurysm, Generalized arterial tortuosity, Micrognathi...	OMIM:610168
Brain Malformations With Or Without Urinary Tract Defects	Low-set ears, Anteverted nares, Macrocephaly, Overfolded helix, Short nose	OMIM:613735
Acrodysostosis 2 With Or Without Hormone Resistance	Depressed nasal bridge, Anteverted nares, Malar flattening, Advanced ossification of carpal bones...	OMIM:614613
Monosomy 9Q22.3	Low-set ears, Palmar pits, Abnormality of the vertebral column, Delayed eruption of teeth, Macroc...	ORPHA:77301
C Syndrome	Low-set ears, Wide nasal bridge, Fused sternal ossification centers, Anteverted nares, Micrognath...	OMIM:211750
Pfeiffer Syndrome	Coronal craniosynostosis, Choanal atresia, Depressed nasal bridge, Hypoplasia of the maxilla, Hum...	OMIM:101600
Holoprosencephaly-Postaxial Polydactyly Syndrome	Abnormal localization of kidney, Umbilical hernia, Abnormal lung lobation, Micrognathia, Encephal...	ORPHA:2166
Neurodevelopmental Disorder With Hypotonia, Stereotypic Hand Movements, And Impaired Language	Low-set ears, Depressed nasal bridge, Anteverted nares, Short nose	OMIM:613443
Craniofacial Dysmorphism, Skeletal Anomalies, And Impaired Intellectual Development Syndrome 1	Low-set ears, Recurrent otitis media, Overlapping toe, Micrognathia, Talipes equinovarus, Short n...	OMIM:213980
Hypophosphatemic Rickets, X-Linked Recessive	Delayed epiphyseal ossification, Renal phosphate wasting, Chronic kidney disease, Nephrocalcinosi...	OMIM:300554
Dent Disease 1	Delayed epiphyseal ossification, Renal phosphate wasting, Chronic kidney disease, Fibular bowing,...	OMIM:300009
Intellectual Disability-Strabismus Syndrome	Low-set ears, Depressed nasal bridge, Joint contracture of the hand, Limitation of joint mobility...	ORPHA:363528
Alkuraya-Kucinskas Syndrome	Low-set ears, Depressed nasal bridge, Arthrogryposis multiplex congenita, Anteverted nares, Micro...	OMIM:617822
Joubert Syndrome 35	Renal fibrosis, Pectus carinatum, Multicystic kidney dysplasia, Depressed nasal bridge, Low-set e...	OMIM:618161
Trisomy 12P	Low-set ears, Wide nasal bridge, Micrognathia, Abnormal antihelix morphology, Malar flattening, S...	ORPHA:1699
Developmental And Epileptic Encephalopathy 95	Short distal phalanx of finger, Short fourth metatarsal, Umbilical hernia, Multiple joint contrac...	OMIM:618143
Periventricular Nodular Heterotopia 9	Clinodactyly, Prominent fingertip pads, Squared superior portion of helix, Microcephaly, Clinodac...	OMIM:618918
Menkes Disease	Atypical scarring of skin, Chondrocalcinosis, Umbilical hernia, Osteomyelitis, Arterial stenosis,...	ORPHA:565
Kyphoscoliotic Ehlers-Danlos Syndrome Due To Lysyl Hydroxylase 1 Deficiency	Arterial dissection, Atypical scarring of skin, Widened atrophic scar, Recurrent pneumonia, Aorti...	ORPHA:1900
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1	Low-set ears, Depressed nasal bridge, Anteverted nares, Micrognathia, Malar flattening, Sinusitis...	OMIM:242860
Cutis Laxa, Autosomal Recessive, Type Iia	Low-set ears, Carious teeth, Anteverted nares, Malar flattening, Joint hypermobility, Microcephal...	OMIM:219200
Adnp Syndrome	Low-set ears, Broad thumb, Plagiocephaly, Sandal gap, Broad hallux, Trigonocephaly, Polydactyly, ...	ORPHA:404448
Growth Retardation, Developmental Delay, And Facial Dysmorphism	Umbilical hernia, Cryptorchidism, Drumstick terminal phalanges, Brachydactyly, Patent ductus arte...	OMIM:612938
Rubinstein-Taybi Syndrome 1	Low-set ears, Broad thumb, Hearing impairment, Delayed cranial suture closure, Hypoplastic iliac ...	OMIM:180849
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly	Platyspondyly, Polysyndactyly of hallux, Pectus carinatum, Narrow chest, Hepatic fibrosis, Postax...	OMIM:263520
Growth Delay-Intellectual Disability-Hepatopathy Syndrome	Hepatic fibrosis, Hepatic failure, Elevated circulating hepatic transaminase concentration, Chole...	ORPHA:541423
Teebi Hypertelorism Syndrome 2	Depressed nasal bridge, Broad nasal tip, Delayed eruption of teeth, Hearing impairment, Short nose	OMIM:619736
Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Impaired Intellectual Development, And Ear Anomalies Syndrome	Joint contracture of the hand, Clinodactyly, Broad 2nd toe, Elevated circulating alanine aminotra...	OMIM:280000
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome	Wide nasal bridge, Abnormal helix morphology, Failure to thrive, Underdeveloped nasal alae, Heari...	ORPHA:453499
Macrothrombocytopenia-Lymphedema-Developmental Delay-Facial Dysmorphism-Camptodactyly Syndrome	Flared nostrils, Hypospadias, Unilateral renal agenesis, Wide nasal bridge, Dental malocclusion, ...	ORPHA:487796
Deafness With Labyrinthine Aplasia, Microtia, And Microdontia	Wide nasal bridge, Hearing impairment, Underdeveloped nasal alae, Aplasia of the inner ear, Promi...	ORPHA:90024
Choanal Atresia	Craniosynostosis, Subglottic stenosis, Polydactyly	ORPHA:137914
Neurodevelopmental Disorder With Language Delay And Behavioral Abnormalities, With Or Without Seizures	Wide nasal bridge, Bulbous nose, Macrotia, Short nose	OMIM:620292
Baker-Gordon Syndrome	Prominent nasal tip, Short nose, Joint hypermobility	OMIM:618218
17Q12 Microdeletion Syndrome	Multicystic kidney dysplasia, Elevated circulating hepatic transaminase concentration, Ureterocel...	ORPHA:261265
Familial Aortic Dissection	Descending thoracic aorta aneurysm, Aortic root aneurysm, Aortic dissection, Mucoid extracellular...	ORPHA:229
Acrofacial Dysostosis, Cincinnati Type	Low-set ears, Hearing impairment, Recurrent otitis media, Micrognathia, Decreased body weight, Sh...	OMIM:616462
Basal Cell Nevus Syndrome 1	Wide nasal bridge, Palmar pits, Mandibular prognathia, Short distal phalanx of the thumb, Vertebr...	OMIM:109400
Mosaic Trisomy 1	Hand clenching, Toe syndactyly, Broad 2nd toe, Congenital diaphragmatic hernia, Arachnodactyly, H...	ORPHA:1692
Familial Thyroid Dyshormonogenesis	Abnormal epiphysis morphology, Goiter, Umbilical hernia, Delayed proximal femoral epiphyseal ossi...	ORPHA:95716
De Barsy Syndrome	Congenital hip dislocation, Prominent veins on trunk, Umbilical hernia, Talipes calcaneovalgus, I...	ORPHA:2962
Meckel Syndrome	Multicystic kidney dysplasia, Postaxial foot polydactyly, Micrognathia, Encephalocele, Cryptorchi...	ORPHA:564
Intellectual Developmental Disorder, Autosomal Dominant 44, With Microcephaly	Wide nasal bridge, Depressed nasal bridge, Retrognathia, Bulbous nose, Micrognathia, Microcephaly...	OMIM:617061
Intellectual Disability-Hypotonic Facies Syndrome, X-Linked, 1	Low-set ears, Clinodactyly, Triangular nasal tip, Genu valgum, Micrognathia, Sensorineural hearin...	OMIM:309580
Kleefstra Syndrome Due To A Point Mutation	Precocious puberty, Umbilical hernia, Vesicoureteral reflux, Inguinal hernia, Abnormality of the ...	ORPHA:261652
14Q24.1Q24.3 Microdeletion Syndrome	Short thumb, Cryptorchidism, Limited elbow extension and supination, Truncus arteriosus, Brachyda...	ORPHA:401935
Focal Dermal Hypoplasia	Low-set ears, Toe syndactyly, Midclavicular aplasia, Foot polydactyly, Short metacarpal, Broad na...	OMIM:305600
Congenital Insensitivity To Pain With Severe Intellectual Disability	Prominent nose, Micrognathia, Tibial bowing, Congenital bilateral hip dislocation, Limb undergrow...	ORPHA:453510
Faundes-Banka Syndrome	Lumbar hemivertebrae, Low-set ears, Cupped ear, Failure to thrive, Underdeveloped nasal alae, Con...	OMIM:619376
Ovarian Fibroma	Abnormality of the ovary, Gonadal calcification, Pleural effusion, Ovarian fibroma, Peritonitis, ...	ORPHA:314473
Mucopolysaccharidosis, Type Iiid	Epiphyseal dysplasia, Depressed nasal bridge, Recurrent upper respiratory tract infections, Low-s...	OMIM:252940
Intellectual Developmental Disorder With Or Without Epilepsy Or Cerebellar Ataxia	Hydronephrosis, Spina bifida occulta, Cryptorchidism	OMIM:618060
Acromicric Dysplasia	Bulbous nose, Joint stiffness, Anteverted nares, Short nose	ORPHA:969
Amme Complex	Clinodactyly of the 2nd toe, Prominent fingertip pads, Sandal gap, Umbilical hernia, Diastasis re...	OMIM:300194
Scarf Syndrome	Bifid scrotum, Umbilical hernia, Diastasis recti, Inguinal hernia, Cryptorchidism, Short sternum,...	OMIM:312830
Oculodentodigital Dysplasia, Autosomal Recessive	Low-set ears, Macrodontia of permanent maxillary central incisor, Hypoplasia of the maxilla, Dent...	OMIM:257850
Gapo Syndrome	Abnormal pelvic girdle bone morphology, Abnormal cerebral vascular morphology, Atherosclerosis, U...	ORPHA:2067
Septopreoptic Holoprosencephaly	Abnormal vertebral morphology, Microcephaly, Abnormal rib morphology	ORPHA:280195
Congenital Muscular Dystrophy With Intellectual Disability And Severe Epilepsy	Osteopenia, Dental malocclusion, Contractures of the large joints, Micrognathia, Progressive micr...	ORPHA:329178
Dermotrichic Syndrome	Depressed nasal bridge, Macrotia, Short nose	ORPHA:99688
Luo-Schoch-Yamamoto Syndrome	Recurrent otitis media, Small hand, Short foot, Umbilical hernia	OMIM:619460
Donnai-Barrow Syndrome	Low-set ears, Depressed nasal bridge, Broad nasal tip, Hearing impairment, Malar flattening, Sens...	OMIM:222448
Arthrogryposis, Distal, Type 2A	Wide nasal bridge, Joint contracture of the hand, Abnormal auditory evoked potentials, Shoulder f...	OMIM:193700
Arterial Tortuosity Syndrome	Aortic root aneurysm, Umbilical hernia, Generalized arterial tortuosity, Micrognathia, Ischemic s...	OMIM:208050
Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities	Hypoplasia of the maxilla, Abnormal auditory evoked potentials, Malar flattening, Sensorineural h...	OMIM:109120
Spondyloepiphyseal Dysplasia-Craniosynostosis-Cleft Palate-Cataracts-Intellectual Disability Syndrome	Depressed nasal bridge, Anteverted nares, Micrognathia, Delayed patellar ossification, Abnormal b...	ORPHA:163649
Warburg Micro Syndrome 2	Secondary microcephaly, Prominent nasal bridge, Asymmetry of the ears, Microcephaly, Short nose, ...	OMIM:614225
Beckwith-Wiedemann Syndrome	Nephropathy, Large placenta, Congenital diaphragmatic hernia, Cryptorchidism, Hepatoblastoma, Hep...	ORPHA:116
Severe Congenital Nemaline Myopathy	Thin ribs, Low-set ears, Abnormal thorax morphology, Adducted thumb, Multiple prenatal fractures,...	ORPHA:171430
Desmoid Tumor	Hydronephrosis, Abnormality of the upper urinary tract, Intestinal polyposis, Intestinal obstruction	ORPHA:873
Cohen Syndrome	Macrodontia of permanent maxillary central incisor, Hypoplasia of the maxilla, Micrognathia, Prom...	OMIM:216550
Diabetes Mellitus, Neonatal, With Congenital Hypothyroidism	Hepatic fibrosis, Pancreatic hypoplasia, Hepatitis, Umbilical hernia, Cholestasis, Portal hyperte...	OMIM:610199
Alport Syndrome	Thickened glomerular basement membrane, Clitoral hypertrophy, IgA deposition in the glomerulus, R...	ORPHA:63
Osteogenesis Imperfecta, Type Xv	Thin ribs, Platyspondyly, Bowing of limbs due to multiple fractures, Joint hypermobility, Scolios...	OMIM:615220
Rapadilino Syndrome	Aplasia/Hypoplasia of the radius, Joint dislocation, Absent thumb, Hearing impairment, Aplasia/Hy...	OMIM:266280
Digeorge Syndrome	Recurrent otitis media, Micrognathia, Hepatic steatosis, Ovarian cyst, Patellar dislocation, Rena...	OMIM:188400
Chromosome 17P13.1 Deletion Syndrome	Broad hallux, Umbilical hernia, Elbow flexion contracture, Long hallux, Knee flexion contracture,...	OMIM:613776
Neurodevelopmental Disorder With Neuromuscular And Skeletal Abnormalities	Depressed nasal bridge, Hearing impairment, Micrognathia, Microcephaly, Distal arthrogryposis, Po...	OMIM:619833
Cleidocranial Dysplasia 1	Hypoplastic scapulae, Hearing impairment, Absent paranasal sinuses, Hypoplastic iliac wing, Micro...	OMIM:119600
Tetrasomy 9P	Hypoplastic scapulae, Small hand, Micrognathia, Absent gallbladder, Cryptorchidism, Glue ear, Bil...	ORPHA:3310
Warburg Micro Syndrome 3	Secondary microcephaly, Micrognathia, Microcephaly, Short nose, Flexion contracture, Macrotia	OMIM:614222
Rhombencephalosynapsis	Microretrognathia, Low-set, posteriorly rotated ears, Anteverted nares, Macrocephaly, Short nose	ORPHA:59315
Bcard Syndrome	Low-set ears, Osteopenia, Contracture of the proximal interphalangeal joint of the 2nd finger, Pa...	OMIM:612394
Hypomandibular Faciocranial Dysostosis	Low-set ears, Anteverted nares, Choanal stenosis, Craniosynostosis, Maxillozygomatic hypoplasia, ...	ORPHA:1790
Macrocephaly-Intellectual Disability-Autism Syndrome	Depressed nasal bridge, Short nose, Macrocephaly	ORPHA:210548
Coffin-Lowry Syndrome	Craniofacial hyperostosis, Depressed nasal bridge, Hypoplasia of the maxilla, Delayed eruption of...	ORPHA:192
Kindler Epidermolysis Bullosa	Carious teeth, Palmoplantar keratoderma, Finger syndactyly, Camptodactyly of finger, Abnormal den...	ORPHA:2908
Lateral Meningocele Syndrome	Keloids, Umbilical hernia, Micrognathia, Inguinal hernia, Cryptorchidism, Aortic aneurysm, Neurog...	OMIM:130720
Aphonia-Deafness-Retinal Dystrophy-Bifid Halluces-Intellectual Disability Syndrome	Broad thumb, Thumb contracture, Low-set, posteriorly rotated ears, Laryngeal stenosis, Joint cont...	ORPHA:324540
Mucopolysaccharidosis, Type Iiic	Hearing impairment, Joint stiffness, Kyphoscoliosis, Ovoid thoracolumbar vertebrae, Beaking of ve...	OMIM:252930
White-Kernohan Syndrome	Hydroureter, Anteriorly placed anus, Horseshoe kidney, Recurrent otitis media, Hydronephrosis, Re...	OMIM:619426
Transaldolase Deficiency	Hepatosplenomegaly, Coarctation of aorta, Cirrhosis, Abnormality of the kidney, Abnormal clitoris...	ORPHA:101028
Myhre Syndrome	Platyspondyly, Hypospadias, Abnormal penis morphology, Hypoplasia of the maxilla, Abnormal epiphy...	ORPHA:2588
Chromosome 1P36 Deletion Syndrome, Distal	Low-set ears, Hearing impairment, Sensorineural hearing impairment, Short foot, Hypospadias, Ecto...	OMIM:607872
Rnf13-Related Severe Early-Onset Epileptic Encephalopathy	Wrist hypermobility, Narrow nasal bridge, Joint hypermobility, Sensorineural hearing impairment, ...	ORPHA:544503
Infantile-Onset X-Linked Spinal Muscular Atrophy	Ankle flexion contracture, Interphalangeal joint contracture of finger, Elbow flexion contracture...	ORPHA:1145
Temtamy Preaxial Brachydactyly Syndrome	Low-set ears, Hypoplasia of the maxilla, Micrognathia, Synostosis of carpals/tarsals, Talon cusp,...	ORPHA:363417
Cardiac Valvular Dysplasia 1	Left aortic arch with cervical origin of the right subclavian artery, Arteria lusoria, Hydrourete...	OMIM:212093
Arboleda-Tham Syndrome	Low-set ears, Enlarged proximal interphalangeal joints, Recurrent otitis media, Underdeveloped tr...	OMIM:616268
Hartsfield Syndrome	Depressed nasal bridge, Aplasia/Hypoplasia of the radius, Low-set, posteriorly rotated ears, Spli...	ORPHA:2117
Combined Immunodeficiency With Facio-Oculo-Skeletal Anomalies	Broad middle phalanx of finger, Unilateral renal agenesis, Arteria lusoria, Short distal phalanx ...	ORPHA:221139
Gabriele-De Vries Syndrome	Low-set ears, Broad nasal tip, Sandal gap, Micrognathia, Ureteropelvic junction obstruction, Hydr...	OMIM:617557
Craniofacial Microsomia 1	Multicystic kidney dysplasia, Atresia of the external auditory canal, Unilateral external ear def...	OMIM:164210
Mosaic Variegated Aneuploidy Syndrome 2	Low-set ears, Depressed nasal bridge, Hearing impairment, Bulbous nose, Micrognathia, Microcephal...	OMIM:614114
Spondylospinal Thoracic Dysostosis	Hypoplasia of the maxilla, Micrognathia, Arthrogryposis multiplex congenita	OMIM:601809
Mullerian Duct Aplasia, Unilateral Renal Agenesis, And Cervicothoracic Somite Anomalies	Unilateral renal agenesis, Conductive hearing impairment, Renal agenesis, Abnormality of the vert...	OMIM:601076
Bartsocas-Papas Syndrome	Synostosis of joints, Underdeveloped nasal alae, Micrognathia, Microcephaly, Short nose	ORPHA:1234
Doors Syndrome	Wide nasal base, Low-set ears, Atresia of the external auditory canal, Lumbar scoliosis, Aplasia/...	ORPHA:79500
X-Linked Microcephaly-Growth Retardation-Prognathism-Cryptorchidism Syndrome	Ankle flexion contracture, Branchial cyst, Finger syndactyly, Cryptorchidism, Knee flexion contra...	ORPHA:435938
Glycosylphosphatidylinositol Biosynthesis Defect 11	Inguinal hernia, Umbilical hernia	OMIM:616025
Spondylocostal Dysostosis 4, Autosomal Recessive	Block vertebrae, Abnormal odontoid process morphology, Bell-shaped thorax, Vertebral segmentation...	OMIM:613686
Intellectual Developmental Disorder, X-Linked, Syndromic, With Pigmentary Mosaicism And Coarse Facies	Depressed nasal bridge, Cholelithiasis, Recurrent otitis media, Broad ribs, Obesity, Genu valgum,...	OMIM:301066
Smith-Lemli-Opitz Syndrome	Small scrotum, Postaxial foot polydactyly, Talipes calcaneovalgus, Recurrent otitis media, Overla...	OMIM:270400
Tetrasomy 5P	Low-set ears, Wide nasal bridge, Anteverted nares, Micrognathia, Macrocephaly, Posteriorly rotate...	ORPHA:3309
Congenital Disorder Of Glycosylation With Defective Fucosylation 1	Wide nasal bridge, Osteopenia, Retrognathia, Microcephaly, Joint contracture, Short nose	OMIM:618005
Congenital Muscular Dystrophy-Infantile Cataract-Hypogonadism Syndrome	Hypogonadism, Decreased testicular size, Abnormality of the ovary, Cubitus valgus	ORPHA:1875
Oculodentodigital Dysplasia	Carious teeth, Conductive hearing impairment, Underdeveloped nasal alae, Narrow nose, Narrow nasa...	OMIM:164200
Sifrim-Hitz-Weiss Syndrome	Low-set ears, Cupped ear, Hearing impairment, Renal insufficiency, Vesicoureteral reflux, Short c...	OMIM:617159
45,X/46,Xy Mixed Gonadal Dysgenesis	Recurrent otitis media, Micrognathia, Abnormal scrotum morphology, Cryptorchidism, Streak ovary, ...	ORPHA:1772
Juvenile Sialidosis Type 2	Umbilical hernia, Cherry red spot of the macula, Hepatosplenomegaly, Inguinal hernia, Abnormality...	ORPHA:93399
Wiedemann-Rautenstrauch Syndrome	Increased circulating prolactin concentration, Recurrent otitis media, Prominent scalp veins, Red...	ORPHA:3455
Macrocephaly/Autism Syndrome	Depressed nasal bridge, Postnatal macrocephaly, Recurrent otitis media, Joint hypermobility, Bipa...	OMIM:605309
Martin-Probst Syndrome	Bifid scrotum, Umbilical hernia, Micrognathia, Renal insufficiency, Cryptorchidism, Proteinuria, ...	OMIM:300519
Hypothyroidism, Congenital, Nongoitrous, 4	Omphalocele, Umbilical hernia	OMIM:275100
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7	Low-set ears, Adducted thumb, Macrocephaly, Frontal bossing, Microtia	OMIM:614643
Endocrine-Cerebroosteodysplasia	Low-set ears, Natal tooth, Fibular bowing, Micrognathia, Barrel-shaped chest, Talipes equinovarus...	OMIM:612651
Ollier Disease	Joint stiffness, Multiple enchondromatosis, Osteolysis, Abnormal cartilage morphology	ORPHA:296
Nicolaides-Baraitser Syndrome	Broad distal phalanx of finger, Sandal gap, Broad 2nd toe, Umbilical hernia, Eczematoid dermatiti...	OMIM:601358
Craniodigital-Intellectual Disability Syndrome	Narrow nasal bridge, Micrognathia, Short nose	ORPHA:1514
Hajdu-Cheney Syndrome	Foot acroosteolysis, Umbilical hernia, Micrognathia, Genu valgum, Inguinal hernia, Fibular bowing...	OMIM:102500
Smith-Magenis Syndrome	Wide nasal bridge, Depressed nasal bridge, Conductive hearing impairment, Joint stiffness, Anteve...	ORPHA:819
Axenfeld-Rieger Syndrome, Type 2	Hypospadias, Inguinal hernia, Cryptorchidism, Umbilical hernia	OMIM:601499
Spondylocostal Dysostosis With Anal Atresia And Urogenital Anomalies	Thin ribs, Block vertebrae, Supernumerary vertebrae, Short ribs, Missing ribs, Rib fusion, Short ...	OMIM:271520
Splenogonadal Fusion-Limb Defects-Micrognathia Syndrome	Narrow palate, Lower limb asymmetry, Abnormal lung lobation, Abnormality of the wrist, Micrognath...	ORPHA:2063
Orofaciodigital Syndrome Type 1	Multicystic kidney dysplasia, Finger syndactyly, Hearing impairment, Micrognathia, Foot polydacty...	ORPHA:2750
Jaberi-Elahi Syndrome	Low-set ears, Depressed nasal bridge, Joint stiffness, Joint hypermobility, Protruding ear, Micro...	OMIM:617988
Congenital Disorder Of Glycosylation, Type It	Bifid uvula, Intrahepatic cholestasis, Elevated circulating hepatic transaminase concentration, H...	OMIM:614921
8P23.1 Microdeletion Syndrome	Low-set ears, Wide nasal bridge, Prominent nasal bridge, Micrognathia, Microcephaly, Biparietal n...	ORPHA:251071
Acrofacial Dysostosis, Catania Type	Carious teeth, Microretrognathia, Hypoplasia of the zygomatic bone, Low-set, posteriorly rotated ...	ORPHA:1786
Chime Syndrome	Aplasia/Hypoplasia of the phalanges of the toes, Clubbing of toes, Aplastic clavicle, Abnormal ep...	ORPHA:3474
46,Xy Difference Of Sex Development Due To 5-Alpha-Reductase 2 Deficiency	Small scrotum, Bifid scrotum, Cryptorchidism, Ambiguous genitalia, male, Ambiguous genitalia, Uro...	ORPHA:753
Hypogonadotropic Hypogonadism 15 With Or Without Anosmia	Small pituitary gland, Decreased testicular size, Genu valgum, Cryptorchidism, Micropenis, Cleft ...	OMIM:614880
Fraser Syndrome 3	Small scrotum, Hypoplasia of the bladder, Bilateral renal agenesis, Short toe, Abnormal lung loba...	OMIM:617667
Camptodactyly, Tall Stature, And Hearing Loss Syndrome	Hearing impairment, Increased vertebral height, Sensorineural hearing impairment, Arachnodactyly,...	OMIM:610474
Ectodermal Dysplasia-Intellectual Disability-Central Nervous System Malformation Syndrome	Low-set ears, Depressed nasal bridge, Hypoplasia of the zygomatic bone, Retrognathia, Abnormal de...	ORPHA:1812
46,Xx Ovotesticular Difference Of Sex Development	Small scrotum, Abnormal male internal genitalia morphology, Abnormal morphology of female interna...	ORPHA:2138
Vascular Malformation, Primary Intraosseous	Diastasis recti, Umbilical hernia	OMIM:606893
Craniofrontonasal Syndrome	Toe syndactyly, 3-4 finger syndactyly, Broad hallux, Umbilical hernia, Breast hypoplasia, Congeni...	OMIM:304110
Thrombocytopenia 11 With Multiple Congenital Anomalies And Dysmorphic Facies	Unilateral renal agenesis, Renal hypoplasia, Aortic root aneurysm, Umbilical hernia, Recurrent ot...	OMIM:620654
Severe Achondroplasia-Developmental Delay-Acanthosis Nigricans Syndrome	Abnormal clavicle morphology, Femoral bowing, Fibular bowing, Tibial bowing, Metaphyseal chondrod...	ORPHA:85165
Chromosome 6Pter-P24 Deletion Syndrome	Umbilical hernia, Tetralogy of Fallot, Broad toe, Hip dysplasia, Short 2nd toe, Clinodactyly of t...	OMIM:612582
Marshall Syndrome	Wide nasal bridge, Depressed nasal bridge, Hypoplasia of the maxilla, Hypoplasia of the zygomatic...	ORPHA:560
Nephrolithiasis, Calcium Oxalate, 1	Calcium oxalate nephrolithiasis, Acute kidney injury, Hyperoxaluria, Ureteropelvic junction obstr...	OMIM:167030
Tatton-Brown-Rahman Syndrome	Talipes valgus, Patellar subluxation, Vesicoureteral reflux, Umbilical hernia	OMIM:615879
Webb-Dattani Syndrome	Retrognathia, Secondary microcephaly, Obesity, Vesicoureteral reflux, Hydronephrosis, Neurogenic ...	OMIM:615926
Tetragametic Chimerism	Clitoral hypertrophy, Bifid scrotum, Abnormality of the ovary, Abnormal scrotum morphology, Crypt...	ORPHA:199310
Multicentric Osteolysis, Nodulosis, And Arthropathy	Osteopenia, Ankle flexion contracture, Hypoplasia of the maxilla, Carpal osteolysis, Interphalang...	OMIM:259600
Intellectual Disability-Brachydactyly-Pierre Robin Syndrome	Hearing impairment, Underdeveloped nasal alae, Cleft mandible, Bulbous nose, Short columella, Pro...	ORPHA:364577
Thyroid Dyshormonogenesis 1	Goiter, Umbilical hernia	OMIM:274400
Holoprosencephaly 12 With Or Without Pancreatic Agenesis	Low-set ears, Depressed nasal bridge, Conductive hearing impairment, Hypoplasia of the zygomatic ...	OMIM:618500
Early-Onset Epileptic Encephalopathy And Intellectual Disability Due To Grin2A Mutation	Secondary microcephaly, Primary microcephaly, Short nose	ORPHA:289266
Genitopatellar Syndrome	Multicystic kidney dysplasia, Hearing impairment, Micrognathia, Patellar aplasia, Hip contracture...	OMIM:606170
Igg4-Related Retroperitoneal Fibrosis	Varicocele, Acute kidney injury, Rheumatoid arthritis, Large vessel vasculitis, Unilateral renal ...	ORPHA:49041
Specc1L-Related Hypertelorism Syndrome	Short toe, Finger syndactyly, Umbilical hernia, Tetralogy of Fallot, Female pseudohermaphroditism...	ORPHA:1519
Peutz-Jeghers Syndrome	Biliary tract neoplasm, Pancreatic adenocarcinoma, Abnormality of the ureter, Neoplasm of the col...	ORPHA:2869
Heart Defects, Congenital, And Other Congenital Anomalies	Interrupted aortic arch, Glycosuria, Pancreatic hypoplasia, Umbilical hernia, Tetralogy of Fallot...	OMIM:600001
Ehlers-Danlos Syndrome, Musculocontractural Type, 2	Camptodactyly, Protruding ear, Short nose, Joint hypermobility	OMIM:615539
Orofaciodigital Syndrome Type 3	Low-set ears, Postaxial foot polydactyly, Short sternum, Postaxial hand polydactyly, Pectus excav...	ORPHA:2752
Wrinkly Skin Syndrome	Low-set ears, Congenital hip dislocation, Carious teeth, Broad nasal tip, Delayed eruption of tee...	ORPHA:2834
Adams-Oliver Syndrome 5	Umbilical hernia, Hypersplenism, Inguinal hernia, Splenomegaly, Portal vein thrombosis, Brachydac...	OMIM:616028
Diarrhea 3, Secretory Sodium, Congenital, With Or Without Other Congenital Anomalies	Intestinal malrotation, Renal duplication, Ureteral duplication, Anal atresia, Rectovaginal fistu...	OMIM:270420
Chromosome 17P13.3, Telomeric, Duplication Syndrome	3-4 finger syndactyly, Short tibia, Short toe, Absent hallux, Oligodactyly, Ectrodactyly, Contrac...	OMIM:612576
Ruvalcaba Syndrome	Small hand, Cone-shaped epiphysis, Synostosis of carpal bones, Micromelia, Abnormal vertebral epi...	ORPHA:3121
Microcephaly 20, Primary, Autosomal Recessive	Ureteral agenesis, Renal hypoplasia, Bilateral renal agenesis, Hyperechogenic kidneys	OMIM:617914
Hereditary Hyperekplexia	Umbilical hernia, Esophagitis, Hernia, Hiatus hernia, Hip dislocation	ORPHA:3197
Peho Syndrome	Progressive microcephaly, Retrognathia, Short nose	OMIM:260565
Epidermolysis Bullosa Simplex With Pyloric Atresia	Abnormality of the urinary system, Abnormality of the urethra, Ureterocele, Aplasia of the bladde...	ORPHA:158684
Intellectual Developmental Disorder With Microcephaly And Pontine And Cerebellar Hypoplasia	Wide nasal bridge, Broad nasal tip, Hearing impairment, Prominent nasal bridge, Micrognathia, Sen...	OMIM:300749
Vacterl Association With Hydrocephalus	Abnormal vertebral morphology, Renal hypoplasia, Absent thumb, Abnormality of the vertebral colum...	OMIM:276950
Potocki-Shaffer Syndrome	Wide nasal bridge, Underdeveloped nasal alae, Short nose	OMIM:601224
Treacher-Collins Syndrome	Wide nasal bridge, Choanal atresia, Hypoplasia of the maxilla, Conductive hearing impairment, Hyp...	ORPHA:861
3Mc Syndrome	Caudal appendage, Umbilical hernia, Supernumerary nipple, Bilateral cryptorchidism, Diastasis rec...	ORPHA:293843
Neurodevelopmental Disorder With Hypotonia, Craniofacial Abnormalities, And Seizures	Broad jaw, Broad thumb, Bulbous nose, Subglottic stenosis, Micrognathia, Talipes equinovarus, Sma...	OMIM:614501
Arthrogryposis Multiplex Congenita 5	Hand clenching, Umbilical hernia, Elbow flexion contracture, Medullary nephrocalcinosis, Microgna...	OMIM:618947
3Mc Syndrome 2	Abnormal vertebral morphology, Wide nasal bridge, Caudal appendage, Abnormality of the vertebral ...	OMIM:265050
Dyschondrosteosis-Nephritis Syndrome	Nephropathy, Aplasia/Hypoplasia of the radius, Radial bowing, Micromelia, Ulnar bowing, Madelung ...	ORPHA:1765
Gonadoblastoma	Ovarian gonadoblastoma, Abnormality of the ovary, Gonadal calcification, Ambiguous genitalia, Gon...	ORPHA:206484
Chronic Nonbacterial Osteomyelitis/Chronic Recurrent Multifocal Osteomyelitis	Abnormal vertebral morphology, Abnormal epiphysis morphology, Abnormal metaphysis morphology, Abn...	ORPHA:324964
Progeroid Syndrome, Petty Type	Short distal phalanx of finger, Umbilical hernia, Reduced subcutaneous adipose tissue, Lipoatroph...	ORPHA:2963
Neurodevelopmental Disorder With Movement Abnormalities, Abnormal Gait, And Autistic Features	Depressed nasal bridge, Broad columella, Advanced eruption of teeth, Progressive microcephaly, Ma...	OMIM:617865
Bainbridge-Ropers Syndrome	Low-set ears, Wide nasal bridge, Depressed nasal bridge, Broad nasal tip, Retrognathia, Underdeve...	OMIM:615485
Momo Syndrome	Short sternum, Brachycephaly, Underfolded helix, Short neck, Large hands, Macrocephaly, Frontal b...	OMIM:157980
Pfeiffer Syndrome Type 1	Low-set ears, Depressed nasal bridge, Hearing impairment, Bicoronal synostosis, Short nose	ORPHA:93258
Autosomal Recessive Hypophosphatemic Rickets	Renal phosphate wasting, Delayed eruption of teeth, Polyarticular arthritis, Sclerotic vertebral ...	ORPHA:289176
22Q11.2 Deletion Syndrome	Micrognathia, Cryptorchidism, Arachnodactyly, Talipes equinovarus, Patellar dislocation, Hypopara...	ORPHA:567
Meacham Syndrome	Accessory spleen, Aplasia of the right hemidiaphragm, Horseshoe kidney, Tetralogy of Fallot, Sept...	OMIM:608978
Congenital Pseudoarthrosis Of The Clavicle	Congenital pseudoarthrosis of the clavicle, Osteoarthritis, Cervical ribs	ORPHA:66630
Hajdu-Cheney Syndrome	Short distal phalanx of finger, Coarse metaphyseal trabecularization, Short toe, Periodontitis, U...	ORPHA:955
Mucopolysaccharidosis, Type Iiib	Hearing impairment, Joint stiffness, Ovoid thoracolumbar vertebrae, Thickened ribs, Dense calvaria	OMIM:252920
Oncogenic Osteomalacia	Abnormal vertebral morphology, Renal phosphate wasting, Abnormality of the tarsal bones, Abnormal...	ORPHA:352540
Ehlers-Danlos Syndrome, Periodontal Type, 1	Periodontitis, Umbilical hernia, Atrophic scars, Inguinal hernia, Hiatus hernia, Arachnodactyly, ...	OMIM:130080
Branchio-Oculo-Facial Syndrome	Wide nasal bridge, Multicystic kidney dysplasia, Broad nasal tip, Conductive hearing impairment, ...	ORPHA:1297
Autosomal Dominant Robinow Syndrome	Finger syndactyly, Elbow dislocation, Micrognathia, Cryptorchidism, Hypoplastic labia majora, Sho...	ORPHA:3107
Microcephaly 26, Primary, Autosomal Dominant	Wide nasal bridge, Failure to thrive, Prominent nasal bridge, Hydronephrosis, Microcephaly, Scoli...	OMIM:619179
Congenital Anomalies Of Kidney And Urinary Tract Syndrome With Or Without Hearing Loss, Abnormal Ears, Or Developmental Delay	Unilateral renal agenesis, Renal hypoplasia, Renal agenesis, Hyperechogenic kidneys, Horseshoe ki...	OMIM:617641
Hyperphosphatasia With Impaired Intellectual Development Syndrome 1	Wide nasal bridge, Mandibular prognathia, Broad nasal tip, Hearing impairment, Delayed ossificati...	OMIM:239300
Cerebrooculonasal Syndrome	Low-set ears, Conductive hearing impairment, Proboscis, Anteverted nares, Prominent nasal bridge,...	OMIM:605627
Fetal Valproate Spectrum Disorder	Depressed nasal ridge, Short nose	ORPHA:1906
Cornelia De Lange Syndrome 4 With Or Without Midline Brain Defects	Low-set ears, Wide nasal bridge, Stapes ankylosis, Anteverted nares, Enamel agenesis, Radioulnar ...	OMIM:614701
Autosomal Dominant Popliteal Pterygium Syndrome	Choanal atresia, Toe syndactyly, Popliteal pterygium, Finger syndactyly, Fibrous syngnathia, Micr...	ORPHA:1300
Aortic Aneurysm, Familial Thoracic 7	Aortic rupture, Aortic aneurysm, Descending aortic dissection, Ascending aortic dissection	OMIM:613780
19P13.13 Microdeletion Syndrome	Low-set ears, Depressed nasal bridge, Macrotia, Anteverted nares, Malar flattening, Macrocephaly,...	ORPHA:357001
Kabuki Syndrome 1	Abnormal vertebral morphology, Low-set ears, Hearing impairment, Recurrent otitis media, Microgna...	OMIM:147920
Toriello-Carey Syndrome	Low-set ears, Narrow chest, Clinodactyly, Hearing impairment, Anotia, Micrognathia, Microcephaly,...	ORPHA:3338
Aneurysm-Osteoarthritis Syndrome	Arterial dissection, Atypical scarring of skin, Aortic dissection, Camptodactyly of finger, Umbil...	ORPHA:284984
Congenital Hypothyroidism Due To Transplacental Passage Of Tsh-Binding Inhibitory Antibodies	Prolonged neonatal jaundice, Umbilical hernia	ORPHA:95715
Opsismodysplasia	Depressed nasal bridge, Joint stiffness, Abnormally ossified vertebrae, Macrocephaly, Short nose	ORPHA:2746
Cleidocranial Dysplasia 2	Osteopenia, Hypoplasia of the maxilla, Hearing impairment, Delayed pubic bone ossification, Delay...	OMIM:620099
Down Syndrome	Shallow acetabular fossae, Conductive hearing impairment, Clinodactyly, Sandal gap, Atlantoaxial ...	OMIM:190685
Axenfeld-Rieger Syndrome	Wide nasal bridge, Depressed nasal bridge, Hypoplasia of the maxilla, Hearing impairment	ORPHA:782
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 10	Pes cavus, Distal lower limb muscle weakness, Pes planus, Descending aortic dissection, Small the...	OMIM:620080
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Hypomyelination	Tapered finger, Short umbilical cord, Short humerus, Short femur	OMIM:618367
Zimmermann-Laband Syndrome 1	Short distal phalanx of finger, Long penis, Aortic root aneurysm, Umbilical hernia, Aortic arch a...	OMIM:135500
Aortic Aneurysm, Familial Thoracic 6	Premature coronary artery atherosclerosis, Moyamoya phenomenon, Aortic aneurysm, Descending aorti...	OMIM:611788
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome	Broad thumb, Hearing impairment, Thoracic hemivertebrae, Overlapping toe, Micrognathia, Short nec...	ORPHA:508498
Aarskog-Scott Syndrome	Wide nasal bridge, Hypoplasia of the maxilla, Large earlobe, Anteverted nares, Joint hypermobilit...	OMIM:305400
16P12.1P12.3 Triplication Syndrome	Low-set ears, Retrognathia, Large earlobe, Bulbous nose, Malar flattening, Short nose	ORPHA:485405
Immunodeficiency 49	Pulmonary artery stenosis, Micrognathia, Psoriasiform dermatitis, Umbilical hernia	OMIM:617237
Meester-Loeys Syndrome	Pulmonary artery aneurysm, Broad distal phalanx of finger, Aortic root aneurysm, Aortic dissectio...	OMIM:300989
Cornelia De Lange Syndrome 6	Low-set ears, Pectus carinatum, Scoliosis, Short 1st metacarpal, Macrotia, Down-sloping shoulders...	OMIM:620568
Neurodevelopmental Disorder With Dysmorphic Facies And Ischiopubic Hypoplasia	Recurrent urinary tract infections, Splenomegaly, Coarctation of aorta, Hepatomegaly, Recurrent r...	OMIM:620210
Heterotaxy, Visceral, 5, Autosomal	Renal hypoplasia, Absence of the sacrum, Pulmonary artery atresia, Total anomalous pulmonary veno...	OMIM:270100
Corpus Callosum, Agenesis Of, With Facial Anomalies And Robin Sequence	Depressed nasal bridge, Tracheomalacia, Anteverted nares, Micrognathia, Microcephaly, Abnormal pi...	OMIM:217980
Craniotubular Dysplasia, Ikegawa Type	Platyspondyly, Broad femoral neck, Hearing impairment, Broad ribs, Sclerosis of skull base, Incre...	OMIM:619727
Stromme Syndrome	Wide nasal bridge, Low-set ears, Accessory spleen, Bilateral renal hypoplasia, Preaxial polydacty...	OMIM:243605
Osteogenesis Imperfecta, Type Iv	Dentinogenesis imperfecta, Femoral bowing present at birth, straightening with time, Otosclerosis...	OMIM:166220
Branchiooculofacial Syndrome	Low-set ears, Hearing impairment, Micrognathia, Sensorineural hearing impairment, Short neck, Sho...	OMIM:113620
Familial Thoracic Aortic Aneurysm And Aortic Dissection	Aortic root aneurysm, Abnormality of connective tissue, Abdominal aortic aneurysm, Arachnodactyly...	ORPHA:91387
Barber-Say Syndrome	Low-set ears, Hypoplasia of the maxilla, Microtia, first degree, Dental malocclusion, Hearing imp...	OMIM:209885
Hunter-Macdonald Syndrome	Epiphyseal dysplasia, Joint contracture of the hand, Umbilical hernia, Premature osteoarthritis, ...	OMIM:611962
Aspergillosis	Abnormality of the vertebral column, Hepatitis, Nasal congestion, Abnormal long bone morphology, ...	ORPHA:1163
Neurodevelopmental Disorder With Hypotonia, Facial Dysmorphism, And Brain Abnormalities	Low-set ears, Wide nasal bridge, Broad columella, Narrow nasal bridge, Anteverted nares, Flexion ...	OMIM:619383
Macrocephaly, Neurodevelopmental Delay, Lymphoid Hyperplasia, And Persistent Fetal Hemoglobin	Recurrent pneumonia, Recurrent upper respiratory tract infections, Umbilical hernia, Hiatus herni...	OMIM:619769
3Q29 Microdeletion Syndrome	Low-set ears, Short nose, Prominent nasal bridge, Joint hypermobility, Microcephaly, Macrocephaly...	ORPHA:65286
Encephalomyopathy, Mitochondrial, Due To Voltage-Dependent Anion Channel Deficiency	Aminoaciduria, Syndactyly, Ketonuria, Umbilical hernia	OMIM:614520
Osteoglophonic Dysplasia	Low-set ears, Osteopenia, Choanal atresia, Depressed nasal bridge, Hypoplasia of the maxilla, Eru...	OMIM:166250
Mucolipidosis Type Iii Alpha/Beta	Recurrent upper respiratory tract infections, Oligosacchariduria, Umbilical hernia, Keratan sulfa...	ORPHA:423461
Matthew-Wood Syndrome	Renal hypoplasia, Annular pancreas, Abnormality of the uterus, Horseshoe kidney, Vesicoureteral r...	ORPHA:2470
Peters Plus Syndrome	Multicystic kidney dysplasia, Toe syndactyly, Micrognathia, Renal hypoplasia/aplasia, Short neck,...	ORPHA:709
Short Stature, Oligodontia, Dysmorphic Facies, And Motor Delay	Toe syndactyly, Recurrent urinary tract infections, Umbilical hernia, Long hallux, Decreased resp...	OMIM:619234
Silver-Russell Syndrome Due To A Point Mutation	Short 5th finger, Microphallus, Ectrodactyly, Small placenta, Bifid scrotum, Micrognathia, Abnorm...	ORPHA:397590
Microgastria-Limb Reduction Defect Syndrome	Multicystic kidney dysplasia, Elbow dislocation, Abnormality of the spleen, Esophagitis, Amelia, ...	ORPHA:2538
Peroxisome Biogenesis Disorder 12A (Zellweger)	Wide nasal bridge, Prominent nose, Abnormal cortical bone morphology, Prominence of the premaxill...	OMIM:614886
Neurodevelopmental Disorder With Microcephaly, Cataracts, And Renal Abnormalities	Epiphyseal dysplasia, Congenital hip dislocation, Renal hypoplasia, Nephrocalcinosis, Aminoacidur...	OMIM:617913
Opitz Gbbb Syndrome	Umbilical hernia, Rectourethral fistula, Vesicoureteral reflux, Inguinal hernia, Cryptorchidism, ...	OMIM:300000
Cranioectodermal Dysplasia 2	Low-set ears, Clinodactyly, Cholestasis, Micrognathia, Short neck, Hepatomegaly, Bile duct prolif...	OMIM:613610
16P13.11 Microduplication Syndrome	Tetralogy of Fallot, Arachnodactyly, Coarctation of aorta, Pes planus, Hand polydactyly, Transpos...	ORPHA:261243
Developmental And Epileptic Encephalopathy 75	Secondary microcephaly, Anteverted nares, Short nose, Wide nasal bridge	OMIM:618437
Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome Due To 10P11.21P12.31 Microdeletion	Choanal atresia, Depressed nasal bridge, Hearing impairment, Bulbous nose, Posteriorly rotated ea...	ORPHA:284169
Jackson-Weiss Syndrome	Hypoplasia of the maxilla, Mandibular prognathia, Convex nasal ridge	ORPHA:1540
Autosomal Recessive Cutis Laxa Type 2, Classic Type	Low-set ears, Broad nasal tip, Carious teeth, Anteverted nares, Malar flattening, Generalized joi...	ORPHA:357074
Distal Deletion 10Q	Low-set ears, Abnormality of the outer ear, Wide nasal bridge, Congenital sensorineural hearing i...	ORPHA:96148
Mosaic Trisomy 20	Narrow chest, Clinodactyly, Retrognathia, Spinal canal stenosis, Horseshoe kidney, Hearing impair...	ORPHA:1724
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion	Broad thumb, Carious teeth, Natal tooth, Secondary microcephaly, Sensorineural hearing impairment...	ORPHA:353281
Fibromuscular Dysplasia, Arterial	Stroke, Renovascular hypertension, Arterial fibromuscular dysplasia, Aortic dissection	OMIM:135580
Gorlin-Chaudhry-Moss Syndrome	Short distal phalanx of finger, Abnormal foot morphology, Umbilical hernia, Abnormal metacarpal m...	ORPHA:2095
Congenital Alveolar Capillary Dysplasia	Annular pancreas, Volvulus, Duodenal stenosis, Intestinal malrotation, Absent gallbladder, Hydron...	ORPHA:210122
Phosphoribosylaminoimidazole Carboxylase Deficiency	Low-set ears, Choanal atresia, Depressed nasal bridge, Bilateral choanal atresia, Anteverted nare...	OMIM:619859
Pfeiffer Syndrome Type 2	Low-set ears, Choanal atresia, Depressed nasal bridge, Limitation of joint mobility, Atresia of t...	ORPHA:93259
Miller-Dieker Lissencephaly Syndrome	Low-set ears, Wide nasal bridge, Joint contracture of the hand, Delayed eruption of teeth, Anteve...	OMIM:247200
Netherton Syndrome	Aminoaciduria, Eczematoid dermatitis, Emphysema, Skin rash, Hydronephrosis, Erythroderma, Recurre...	ORPHA:634
9P13 Microdeletion Syndrome	Precocious puberty, Microretrognathia, Umbilical hernia, Recurrent otitis media, External genital...	ORPHA:324313
Loeys-Dietz Syndrome 3	Tortuous cerebral arteries, Abdominal aortic aneurysm, Arachnodactyly, Talipes equinovarus, Knee ...	OMIM:613795
Cardiac Diverticulum	Pulmonary artery hypoplasia, Abdominal wall defect, Umbilical hernia, Aplasia/Hypoplasia of the s...	ORPHA:1686
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation	Lambdoidal craniosynostosis, Wide nasal bridge, Broad nasal tip, Dental malocclusion, Conductive ...	ORPHA:453504
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion	Lambdoidal craniosynostosis, Wide nasal bridge, Broad nasal tip, Dental malocclusion, Conductive ...	ORPHA:352665
Methylmalonic Aciduria And Homocystinuria, Cblf Type	Low-set ears, Homocystinuria, Methylmalonic aciduria, Cystathioninuria, Failure to thrive, Talipe...	OMIM:277380
Visceral Myopathy 1	Microcolon, Urinary retention, Megacystis, Intestinal pseudo-obstruction, Megaduodenum, Vesicoure...	OMIM:155310
Hyperphosphatasia With Impaired Intellectual Development Syndrome 2	Wide nasal bridge, Broad nasal tip, Hearing impairment, Microcephaly, Left unicoronal synostosis,...	OMIM:614749
Burkitt Lymphoma	Abnormality of the ovary, Abnormality of the spleen, Abnormality of the liver, Intestinal obstruc...	ORPHA:543
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome	Unilateral renal agenesis, Parathyroid hypoplasia, Uterus didelphys, Septate vagina, Psoriasiform...	ORPHA:2237
Teebi Hypertelorism Syndrome 1	Wide nasal bridge, Coronal craniosynostosis, Depressed nasal bridge, Natal tooth, Anteverted nare...	OMIM:145420
Dextrocardia	Congenital hip dislocation, Abnormality of abdominal situs, Pancreatic hypoplasia, Abnormal foot ...	ORPHA:1666
Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum	Carpal osteolysis, Abnormal hand morphology, Osteolysis involving tarsal bones, Polycystic ovarie...	ORPHA:371428
Midface Hypoplasia, Hearing Impairment, Elliptocytosis, And Nephrocalcinosis	Nephrocalcinosis, Broad distal phalanx of finger, Micrognathia, Talipes, Talipes equinovarus, Pat...	OMIM:300990
Genitopalatocardiac Syndrome	Multicystic kidney dysplasia, Abnormal mesentery morphology, Abnormality of the gallbladder, Micr...	ORPHA:2075
Pentalogy Of Cantrell	Aplasia/Hypoplasia of the radius, Renal agenesis, Abnormal sternum morphology, Polysplenia, Abnor...	ORPHA:1335
Osteogenesis Imperfecta, Type I	Dentinogenesis imperfecta, Otosclerosis, Hearing impairment, Femoral bowing, Biconcave flattened ...	OMIM:166200
Ehlers-Danlos Syndrome, Dermatosparaxis Type	Short toe, Umbilical hernia, Spontaneous neonatal pneumothorax, Atrophic scars, Micrognathia, Ing...	OMIM:225410
Poikiloderma With Neutropenia	Depressed nasal bridge, Carious teeth, Retrognathia, Underdeveloped nasal alae, Recurrent otitis ...	OMIM:604173
Aicardi Syndrome	Small hand, Plagiocephaly, Block vertebrae, Butterfly vertebrae, Missing ribs, Microcephaly, Supe...	ORPHA:50
Microcephaly-Seizures-Intellectual Disability-Heart Disease Syndrome	Abnormal sternum morphology, Broad ribs, Short ribs, Microcephaly, Abnormal rib morphology, Posta...	ORPHA:2519
Pancreatic Hypoplasia-Diabetes-Congenital Heart Disease Syndrome	Interrupted aortic arch, Anterior pituitary agenesis, Pancreatic hypoplasia, Umbilical hernia, Ex...	ORPHA:2255
Erdheim-Chester Disease	Abnormal epiphysis morphology, Osteomyelitis, Abnormal metaphysis morphology, Renal insufficiency...	ORPHA:35687
Desbuquois Dysplasia 1	Depressed nasal bridge, Microretrognathia, Malar flattening, Joint hypermobility, Osteoarthritis,...	OMIM:251450
Renal-Hepatic-Pancreatic Dysplasia 2	Malformation of the hepatic ductal plate, Hepatic fibrosis, Abnormal lung lobation, Cholestasis, ...	OMIM:615415
Intellectual Disability-Cataracts-Calcified Pinnae-Myopathy Syndrome	Narrow chest, Plagiocephaly, Conductive hearing impairment, Abnormal form of the vertebral bodies...	ORPHA:3042
Growth Retardation, Impaired Intellectual Development, Hypotonia, And Hepatopathy	Intrahepatic cholestasis, Hepatic fibrosis, Decreased liver function, Elevated circulating aspart...	OMIM:617093
Cortical Blindness-Intellectual Disability-Polydactyly Syndrome	Microretrognathia, Short nose	ORPHA:1389
Cleft Lip/Palate	Hypoplasia of the maxilla, Conductive hearing impairment, Dental malocclusion, Recurrent otitis m...	ORPHA:199306
Cardiospondylocarpofacial Syndrome	Low-set ears, Carpal synostosis, Recurrent otitis media, Enlarged vestibular aqueduct, Tarsal syn...	OMIM:157800
Neurodevelopmental Disorder With Cataracts, Poor Growth, And Dysmorphic Facies	Low-set ears, Wide nasal bridge, Microretrognathia, Bulbous nose, Protruding ear, Short nose	OMIM:618571
Congenital Disorder Of Glycosylation, Type Il	Low-set ears, Microcephaly, Depressed nasal bridge, Short nose	OMIM:608776
Scalp-Ear-Nipple Syndrome	Underdeveloped tragus, Underdeveloped antitragus, Abnormal antihelix morphology, Small earlobe, M...	ORPHA:2036
Hereditary Orotic Aciduria	Aminoaciduria, Oroticaciduria, Abnormality of the ureter, Splenomegaly, Orotic acid crystalluria,...	ORPHA:30
Tall Stature-Intellectual Disability-Renal Anomalies Syndrome	Multicystic kidney dysplasia, Abnormal femoral torsion, Tibial torsion, Long foot, Bifid ureter, ...	ORPHA:500095
16P13.11 Microdeletion Syndrome	Low-set ears, Depressed nasal bridge, Atresia of the external auditory canal, Camptodactyly of fi...	ORPHA:261236
Intellectual Developmental Disorder, Autosomal Dominant 42	Hand clenching, Failure to thrive, Postnatal macrocephaly, Limited elbow extension, Ureteropelvic...	OMIM:616973
Ehlers-Danlos Syndrome, Musculocontractural Type, 1	Low-set ears, Microretrognathia, Joint dislocation, Hearing impairment, Delayed cranial suture cl...	OMIM:601776
Brachytelephalangy-Dysmorphism-Kallmann Syndrome	Anosmia, Hypoplasia of the zygomatic bone, Joint stiffness, Abnormal nostril morphology, Short nose	ORPHA:1295
Oculodentodigital Dysplasia	Carious teeth, Conductive hearing impairment, Hearing impairment, Cranial hyperostosis, Camptodac...	ORPHA:2710
Harel-Yoon Syndrome	Micrognathia, Mandibular prognathia, Short nose	OMIM:617183
Alveolar Echinococcosis	Abnormal vertebral morphology, Biliary cirrhosis, Abnormal sternum morphology, Decreased liver fu...	ORPHA:284
Brachymorphism-Onychodysplasia-Dysphalangism Syndrome	Umbilical hernia, Inguinal hernia, Brachydactyly, Clinodactyly of the 5th finger, Short distal ph...	ORPHA:1292
Fg Syndrome 5	Depressed nasal bridge, Anteverted nares, Short nose	OMIM:300581
Cutis Gyrata-Acanthosis Nigricans-Craniosynostosis Syndrome	Palmoplantar keratoderma, Bifid scrotum, Umbilical hernia, Cryptorchidism, Prominent scrotal raph...	ORPHA:1555
Thoracic Outlet Syndrome	Abnormal rib morphology	ORPHA:97330
Okamoto Syndrome	Wide nasal bridge, Depressed nasal bridge, Low-set ears, Abnormal helix morphology, Underdevelope...	ORPHA:2729
Eec Syndrome	Hypospadias, Choanal atresia, Toe syndactyly, Carious teeth, Finger syndactyly, Ectrodactyly, Abn...	ORPHA:1896
Neurodevelopmental Disorder With Hypotonia And Speech Delay, With Or Without Seizures	Wide nasal bridge, Small hand, Failure to thrive, Finger clinodactyly, Hearing impairment, Anteve...	OMIM:620455
Adenylosuccinase Deficiency	Low-set ears, Microcephaly, Anteverted nares, Short nose	OMIM:103050
Encephalocraniocutaneous Lipomatosis	Peripheral pulmonary artery stenosis, Subcutaneous lipoma, Cryptorchidism, Hydronephrosis, Multip...	OMIM:613001
Miller-Dieker Syndrome	Anteverted nares, Short nose	ORPHA:531
Syndactyly-Telecanthus-Anogenital And Renal Malformations Syndrome	Wide nasal bridge, Toe syndactyly, Renal agenesis, Horseshoe kidney, Bulbous nose, Renal insuffic...	ORPHA:140952
Goldberg-Shprintzen Syndrome	Low-set ears, Wide nasal bridge, Hypoplasia of the maxilla, Bulbous nose, Prominent nasal bridge,...	OMIM:609460
Fraser Syndrome 2	Unilateral renal agenesis, Renal hypoplasia, Renal agenesis, Bilateral renal agenesis, Aplasia of...	OMIM:617666
Acrodysostosis 1 With Or Without Hormone Resistance	Depressed nasal bridge, Hypoplasia of the maxilla, Broad nasal tip, Dental malocclusion, Hearing ...	OMIM:101800
Torticollis, Keloids, Cryptorchidism, And Renal Dysplasia	Nephritis, Keloids, Unilateral renal atrophy, Pyelonephritis, Cryptorchidism, Oligozoospermia, Va...	OMIM:314300
X-Linked Female Restricted Facial Dysmorphism-Short Stature-Choanal Atresia-Intellectual Disability	Wide nasal base, Flared nostrils, Small hand, Low-set ears, Hearing impairment, Overlapping toe, ...	ORPHA:480880
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 2	Microretrognathia, Umbilical hernia, Inguinal hernia, 3-Methylglutaconic aciduria, Cryptorchidism...	OMIM:614052
Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Anomalies	Low-set ears, Cessation of head growth, Contractures of the large joints, Micrognathia, Progressi...	OMIM:617527
Intellectual Developmental Disorder, X-Linked 98	Depressed nasal bridge, Underdeveloped nasal alae, Secondary microcephaly, Anteverted nares, Prom...	OMIM:300912
Lethal Congenital Contracture Syndrome 2	Hydronephrosis	OMIM:607598
Trichothiodystrophy 1, Photosensitive	Retrognathia, Protruding ear, Microcephaly, Short nose, Flexion contracture, Macrotia	OMIM:601675
Neurofibromatosis Type 1 Due To Nf1 Mutation Or Intragenic Deletion	Abnormal dental pulp morphology, Abnormal tibia morphology, Genu valgum, Micrognathia, Kyphoscoli...	ORPHA:363700
Frontorhiny	Hypoplasia of the maxilla, Camptodactyly of finger, Low-set, posteriorly rotated ears, Congenital...	ORPHA:391474
Tetrasomy 12P	Anteverted nares, Delayed eruption of teeth, Short nose, Joint hypermobility	ORPHA:884
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency	Low-set ears, Broad thumb, Carious teeth, Natal tooth, Secondary microcephaly, Micrognathia, Sens...	ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations	Low-set ears, Broad thumb, Carious teeth, Natal tooth, Secondary microcephaly, Micrognathia, Sens...	ORPHA:353277
Snijders Blok-Campeau Syndrome	Enamel hypoplasia, Inguinal hernia, Abnormal foot morphology, Umbilical hernia	OMIM:618205
Fowler Urethral Sphincter Dysfunction Syndrome	Acne, Abnormality of the urethra, Urinary retention, Abnormality of the ovary, Polycystic ovaries...	ORPHA:2795
Wilms Tumor, Aniridia, Genitourinary Anomalies, And Impaired Intellectual Development Syndrome	Nephropathy, Abnormal vagina morphology, Abnormality of the uterus, Streak ovary, Renal insuffici...	OMIM:194072
Wolf-Hirschhorn Syndrome	Micrognathia, Sensorineural hearing impairment, Radioulnar synostosis, Talipes equinovarus, Short...	OMIM:194190
Spondyloepiphyseal Dysplasia, Nishimura Type	Delayed epiphyseal ossification, Short nose	OMIM:618618
Blomstrand Lethal Chondrodysplasia	Synostosis of joints, Low-set ears, Depressed nasal bridge, Natal tooth, Anteverted nares, Microg...	ORPHA:50945
Monosomy 22Q13.3	Wide nasal bridge, Dental malocclusion, Hearing impairment, Macrotia, Bulbous nose, Obesity, Recu...	ORPHA:48652
Laryngotracheoesophageal Cleft Type 4	Abnormal form of the vertebral bodies, Abnormal mesentery morphology, Abnormality of the spleen, ...	ORPHA:93941
Peutz-Jeghers Syndrome	Intestinal bleeding, Bladder polyp, Intussusception, Bile duct polyp, Abnormality of the ureter, ...	OMIM:175200
Cohen Syndrome	Aplasia/Hypoplasia of the earlobes, Hypoplasia of the maxilla, Hypoplasia of the zygomatic bone, ...	ORPHA:193
Craniolenticulosutural Dysplasia	Hypoplasia of the maxilla, Carious teeth, Delayed eruption of teeth, Prominent nasal bridge, Join...	ORPHA:50814
Meckel Syndrome, Type 1	Postaxial foot polydactyly, Occipital encephalocele, Clinodactyly, Abnormality of the ureter, Lar...	OMIM:249000
Ovarian Fibrothecoma	Abnormality of the ovary, Gonadal calcification, Pleural effusion, Abnormal endometrium morpholog...	ORPHA:314478
Diets-Jongmans Syndrome	Umbilical hernia, Inguinal hernia, Congenital diaphragmatic hernia, Cryptorchidism, Interrupted i...	OMIM:618846
Andersen-Tawil Syndrome	Low-set ears, Wide nasal bridge, Hypoplasia of the maxilla, Bulbous nose, Persistence of primary ...	ORPHA:37553
Aortic Aneurysm, Familial Thoracic 8	Abdominal aortic aneurysm, Coronary artery aneurysm, Descending aortic dissection, Ascending aort...	OMIM:615436
Cleft Velum	Recurrent otitis media, Hypoplasia of the maxilla, Conductive hearing impairment	ORPHA:99772
Ablepharon Macrostomia Syndrome	Depressed nasal bridge, Hypoplasia of the maxilla, Toe syndactyly, Hypoplasia of the zygomatic bo...	ORPHA:920
Alpha-Thalassemia-X-Linked Intellectual Disability Syndrome	Abnormality of the male genitalia, Recurrent urinary tract infections, Cryptorchidism, Infectious...	ORPHA:847
Methylmalonate Semialdehyde Dehydrogenase Deficiency	Depressed nasal bridge, Bulbous nose, Anteverted nares, Microcephaly, Short nose	OMIM:614105
Acrocardiofacial Syndrome	Toe syndactyly, Finger syndactyly, Camptodactyly of finger, Tetralogy of Fallot, Cryptorchidism, ...	ORPHA:2008
Methylmalonic Aciduria And Homocystinuria, Cblj Type	Homocystinuria, Methylmalonic aciduria, Micrognathia, Inguinal hernia, Cryptorchidism, Coarctatio...	OMIM:614857
Neurodevelopmental Disorder With Hypotonia, Impaired Language, And Dysmorphic Features	Supernumerary nipple, Recurrent respiratory infections, Diastasis recti, Umbilical hernia	OMIM:616579
Classical Ehlers-Danlos Syndrome	Aortic root aneurysm, Talipes equinovarus, Pes planus, Patellar dislocation, Dislocated radial he...	ORPHA:287
Aortic Aneurysm, Familial Thoracic 9	Thoracic aortic aneurysm, Arachnodactyly, Aortic tortuosity, Ascending aortic dissection	OMIM:616166
Czech Dysplasia	Short toe, Flat capital femoral epiphysis, Narrow iliac wing, Coxa vara, Narrow femoral neck, Sho...	OMIM:609162
Zttk Syndrome	Low-set ears, Small hand, Absent gallbladder, Short foot, Short nose, Hypoplasia of the maxilla, ...	OMIM:617140
Thyroid Hemiagenesis	Hashimoto thyroiditis, Hyperparathyroidism, Jaundice, Umbilical hernia	ORPHA:95719
Isolated Thyroid-Stimulating Hormone Deficiency	Abnormal epiphysis morphology, Increased circulating prolactin concentration, Umbilical hernia, G...	ORPHA:90674
Aorto-Ventricular Tunnel	Aorto-ventricular tunnel, Aortic root aneurysm, Abnormal aortic morphology, Abnormal coronary art...	ORPHA:3400
Exstrophy-Epispadias Complex	Abnormality of the ureter, Cryptorchidism, Abnormality of the abdominal wall, Abnormality of the ...	ORPHA:322
Liver Disease, Severe Congenital	Portal inflammation, Recurrent otitis media, Dilatation of the ventricular cavity, Micrognathia, ...	OMIM:619991
Acrocallosal Syndrome	Toe syndactyly, Postaxial foot polydactyly, Finger syndactyly, Microretrognathia, Umbilical herni...	OMIM:200990
Granulomatosis With Polyangiitis	Vasculitis, Ureteral stenosis, Recurrent intrapulmonary hemorrhage, Renal insufficiency, Otitis m...	ORPHA:900
Conotruncal Heart Malformations	Broad hallux, Truncus arteriosus, Postaxial polydactyly, Coarctation of aorta, Transposition of t...	OMIM:217095
Trisomy 10P	Low-set ears, Depressed nasal bridge, Abnormal auditory evoked potentials, Abnormality of the nos...	ORPHA:171929
Lateral Meningocele Syndrome	Umbilical hernia, Micrognathia, Inguinal hernia, Cryptorchidism, Meningocele	ORPHA:2789
Thakker-Donnai Syndrome	Bulbous nose, Anteverted nares, Cervical C2/C3 vertebral fusion, Hydronephrosis, Short neck, Hemi...	ORPHA:1780
Ogden Syndrome	Recurrent otitis media, Micrognathia, Cryptorchidism, Pulmonary edema, Jaundice, Minimal subcutan...	OMIM:300855
Oculocerebrorenal Syndrome Of Lowe	Periodontitis, Micrognathia, Genu valgum, Cryptorchidism, Hematuria, Proximal renal tubular acido...	ORPHA:534
Elsahy-Waters Syndrome	Low-set ears, Wide nasal bridge, Bifid nasal tip, Hypoplasia of the maxilla, Dental malocclusion,...	OMIM:211380
Neurodegeneration With Developmental Delay, Early Respiratory Failure, Myoclonic Seizures, And Brain Abnormalities	Hydronephrosis, Limb joint contracture, Patent ductus arteriosus, Cryptorchidism	OMIM:620327
Esophageal Atresia	Abnormal vertebral morphology, Choanal atresia, Abnormality of the urinary system, Renal agenesis...	ORPHA:1199
Holoprosencephaly 13, X-Linked	Low-set ears, Hearing impairment, Micrognathia, Microcephaly, Aplasia of the nose, Microtia	OMIM:301043
Pseudotrisomy 13 Syndrome	Renal hypoplasia, Postaxial foot polydactyly, Renal agenesis, 11 pairs of ribs, Encephalocele, Cr...	OMIM:264480
Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To 5Q31.3 Microdeletion	Low-set ears, Depressed nasal bridge, Anteverted nares, Micrognathia, Short nose	ORPHA:314655
Marshall Syndrome	Low-set ears, Depressed nasal bridge, Macrodontia of permanent maxillary central incisor, Recurre...	OMIM:154780
Mucopolysaccharidosis Type 3	Hearing impairment, Genu valgum, Urinary glycosaminoglycan excretion, Sensorineural hearing impai...	ORPHA:581
Cerebrocostomandibular Syndrome	Posterior rib gap, Conductive hearing impairment, Atresia of the external auditory canal, Tracheo...	ORPHA:1393
Hypothyroidism Due To Tsh Receptor Mutations	Abnormal epiphysis morphology, Umbilical hernia, Delayed proximal femoral epiphyseal ossification...	ORPHA:90673
Combined Oxidative Phosphorylation Deficiency 25	Low-set ears, Depressed nasal bridge, Wide nasal bridge, Anteverted nares, Sensorineural hearing ...	OMIM:616430
Carpenter Syndrome 2	Broad thumb, Supernumerary nipple, Cutaneous finger syndactyly, Cryptorchidism, Talipes equinovar...	OMIM:614976
Global Developmental Delay-Alopecia-Macrocephaly-Facial Dysmorphism-Structural Brain Anomalies Syndrome	Tapered toe, Retrognathia, Macrotia, Bulbous nose, Large for gestational age, Sensorineural heari...	ORPHA:544488
Cleft Palate, Cardiac Defect, Genital Anomalies, And Ectrodactyly	Absent pulmonary artery, Tetralogy of Fallot, Cryptorchidism, Coarctation of aorta, Patent ductus...	OMIM:600460
Hydrolethalus Syndrome 1	Accessory spleen, Abnormal vagina morphology, Preaxial hand polydactyly, Upper limb undergrowth, ...	OMIM:236680
Lathosterolosis	Anteverted nares, Micrognathia, Microcephaly, Prominent nasal tip, Osteoporosis, Short nose	OMIM:607330
Houge-Janssens Syndrome 3	Inguinal hernia, Single transverse palmar crease, Umbilical hernia	OMIM:618354
Autosomal Recessive Malignant Osteopetrosis	Narrow chest, Abnormal epiphysis morphology, Delayed eruption of teeth, Hearing impairment, Macro...	ORPHA:667
Johanson-Blizzard Syndrome	Delayed eruption of teeth, Underdeveloped nasal alae, Sensorineural hearing impairment, Microceph...	ORPHA:2315
Alpha-Mannosidosis, Infantile Form	Hepatosplenomegaly, Genu valgum, Sensorineural hearing impairment, Short neck, Bilateral coxa val...	ORPHA:309282
Kyphoscoliotic Ehlers-Danlos Syndrome	Congenital hip dislocation, Atypical scarring of skin, Subdural hemorrhage, Umbilical hernia, Kne...	ORPHA:536545
Vici Syndrome	High palate, Renal tubular acidosis, Ureteral atresia	ORPHA:1493
Nestor-Guillermo Progeria Syndrome	Thin ribs, Microretrognathia, Dental malocclusion, Failure to thrive, Micrognathia, Mandibular os...	OMIM:614008
Grange Syndrome	Finger clinodactyly, Coronary artery stenosis, Renal artery stenosis, Carotid artery stenosis, Br...	OMIM:602531
Müllerian Aplasia And Hyperandrogenism	Abnormal vagina morphology, Renal agenesis, Abnormality of the ovary, Cubitus valgus, Brachydacty...	ORPHA:247768
Mosaic Variegated Aneuploidy Syndrome 1	Low-set ears, Depressed nasal bridge, Anteverted nares, Micrognathia, Malar flattening, Microceph...	OMIM:257300
Dental Anomalies And Short Stature	Hypoplasia of the maxilla, Mandibular prognathia, Amelogenesis imperfecta	OMIM:601216
Hyperekplexia 1	Hip dislocation, Inguinal hernia, Umbilical hernia	OMIM:149400
Robinow Syndrome, Autosomal Dominant 3	Low-set ears, Wide nasal bridge, Depressed nasal bridge, Dental malocclusion, Hearing impairment,...	OMIM:616894
Plaa-Associated Neurodevelopmental Disorder	Contractures of the large joints, Low-set, posteriorly rotated ears, Micrognathia, Sensorineural ...	ORPHA:521426
Neurodevelopmental Disorder With Growth Retardation, Dysmorphic Facies, And Corpus Callosum Abnormalities	Low-set ears, Secondary microcephaly, Clinodactyly of the 5th toe, Short sternum, Posteriorly rot...	OMIM:620113
Cohen-Gibson Syndrome	Broad thumb, Flared metaphysis, Umbilical hernia, Long foot, Hypoplastic iliac wing, Cryptorchidi...	OMIM:617561
Apert Syndrome	Choanal atresia, Depressed nasal bridge, Hypoplasia of the maxilla, Conductive hearing impairment...	ORPHA:87
Inflammatory Skin And Bowel Disease, Neonatal, 2	Pustule, Coarctation of aorta, Recurrent pneumonia, Recurrent bronchiolitis	OMIM:616069
Thauvin-Robinet-Faivre Syndrome	Long foot, Bifid ureter, Long hallux, Inguinal hernia, Nephroblastoma, Renal cyst, Pes planus, La...	OMIM:617107
Aredyld Syndrome	Hepatomegaly, Abnormality of the ureter, Brachydactyly, Splenomegaly	ORPHA:1133
Arterial Calcification, Generalized, Of Infancy, 1	Arterial stenosis, Carotid artery calcification, Renal artery stenosis, Generalized arterial calc...	OMIM:208000
Intellectual Developmental Disorder, Autosomal Dominant 21	Coarctation of aorta, Patent ductus arteriosus, Cryptorchidism, Single transverse palmar crease	OMIM:615502
Cataracts, Growth Hormone Deficiency, Sensory Neuropathy, Sensorineural Hearing Loss, And Skeletal Dysplasia	Delayed epiphyseal ossification, Osteopenia, Depressed nasal bridge, Underdeveloped nasal alae, M...	OMIM:616007
Distal Deletion 19P	Keloids, Umbilical hernia, Arachnodactyly, Long toe, Vaginal hernia	ORPHA:96129
Williams Syndrome	Micrognathia, Genu valgum, Cryptorchidism, Polycystic ovaries, Radioulnar synostosis, Overriding ...	ORPHA:904
Bardet-Biedl Syndrome	Fifth finger distal phalanx clinodactyly, Chronic kidney disease, Finger syndactyly, Hearing impa...	ORPHA:110
Cornelia De Lange Syndrome	Small hand, Toe syndactyly, Multicystic kidney dysplasia, Elbow dislocation, Atresia of the exter...	ORPHA:199
Coarctation Of Aorta	Coarctation of aorta	OMIM:120000
Paternal Uniparental Disomy Of Chromosome 6	Precocious puberty, Abdominal wall defect, Umbilical hernia, Labial hypertrophy, Micrognathia, Cr...	ORPHA:96191
Distal Deletion 3P	Umbilical hernia, Micrognathia, Inguinal hernia, Cryptorchidism, Postaxial hand polydactyly, Clin...	ORPHA:1620
Osteoporosis-Pseudoglioma Syndrome	Platyspondyly, Biconcave vertebral bodies, Kyphoscoliosis, Tibial bowing, Barrel-shaped chest, Mi...	OMIM:259770
Cardiac, Facial, And Digital Anomalies With Developmental Delay	Ulnar deviation of finger, Clinodactyly, Sandal gap, Umbilical hernia, Radial deviation of finger...	OMIM:618164
Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 2	Aortic rupture, Umbilical hernia, Atrophic scars, Inguinal hernia, Bladder diverticulum, Talipes ...	OMIM:614557
Waardenburg Syndrome Type 1	Wide nasal bridge, Hearing impairment, Underdeveloped nasal alae, Congenital sensorineural hearin...	ORPHA:894
Gapo Syndrome	Umbilical hernia, Retinal arteriolar tortuosity, Breast hypoplasia, Prominent scalp veins, Microg...	OMIM:230740
Tricuspid Atresia	Pulmonary artery atresia, Coarctation of aorta, Transposition of the great arteries, Persistent l...	ORPHA:1209
Holoprosencephaly 9	Choanal atresia, Depressed nasal bridge, Broad nasal tip, Prominent antihelix, Single naris, Hypo...	OMIM:610829
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Hypermethylation	Large placenta, Diastasis recti, Omphalocele, Umbilical hernia	ORPHA:254534
Chromosome 13Q14 Deletion Syndrome	Umbilical hernia, Supernumerary nipple, Overlapping toe, Micrognathia, Inguinal hernia, Cryptorch...	OMIM:613884
Rothmund-Thomson Syndrome, Type 2	Depressed nasal bridge, Prominent antihelix, Delayed eruption of teeth, Micrognathia, Overfolded ...	OMIM:268400
Cardioacrofacial Dysplasia 1	Overhanging nasal tip, Hypoplasia of the maxilla	OMIM:619142
Scimitar Syndrome	Descending aorta hypoplasia, Pulmonary artery hypoplasia, Bronchogenic cyst, Anomalous origin of ...	ORPHA:185
Bannayan-Riley-Ruvalcaba Syndrome	Macrotia, Anteverted nares, Micrognathia, Joint hypermobility, Macrocephaly, Short nose, Wide nose	ORPHA:109
Gm1-Gangliosidosis, Type I	Depressed nasal ridge, Abnormality of the urinary system, Splenomegaly, Thickened ribs, Hypoplast...	OMIM:230500
Branchioskeletogenital Syndrome	Depressed nasal bridge, Hypoplasia of the maxilla, Broad nasal tip, Carious teeth, Large earlobe,...	ORPHA:1299
Sotos Syndrome	Small cell lung carcinoma, Cryptorchidism, Hip contracture, Talipes equinovarus, Pes planus, Abno...	ORPHA:821
Frontonasal Dysplasia-Severe Microphthalmia-Severe Facial Clefting Syndrome	Wide nasal bridge, Hypoplasia of the frontal bone, Hypoplasia of the maxilla, Conductive hearing ...	ORPHA:306542
Distal Deletion 15Q	Multicystic kidney dysplasia, Small hand, Micrognathia, Genu valgum, Congenital diaphragmatic her...	ORPHA:1596
Cleft Palate, Cardiac Defects, And Impaired Intellectual Development	Short 5th finger, Broad thumb, Sandal gap, Broad hallux, Congenital lobar overinflation, 2-3 toe ...	OMIM:600987
Spastic Paraplegia 16, X-Linked	Hypoplasia of the maxilla	OMIM:300266
3-Phosphoglycerate Dehydrogenase Deficiency, Infantile/Juvenile Form	Umbilical hernia, Hypogonadism, Esophagitis, Inguinal hernia, Adducted thumb	ORPHA:79351
Anophthalmia-Megalocornea-Cardiopathy-Skeletal Anomalies Syndrome	Ulnar deviation of finger, Camptodactyly of finger, Umbilical hernia, Inguinal hernia, Cryptorchi...	ORPHA:1101
Early Infantile Epileptic Encephalopathy	Precocious puberty, Ureterocele, Umbilical hernia, Short finger, Broad phalanx of the toes, Micro...	ORPHA:1934
Diethylstilbestrol Syndrome	Hypoplasia of the uterus, Abnormality of the uterus, Vaginal neoplasm, Cryptorchidism, Testicular...	ORPHA:1916
Incontinentia Pigmenti	Deviation of finger, Finger syndactyly, Keratitis, Camptodactyly of finger, Abnormal dental ename...	ORPHA:464
Bardet-Biedl Syndrome 1	High, narrow palate, Hepatic fibrosis, Postaxial foot polydactyly, Radial deviation of finger, Ab...	OMIM:209900
Ehlers-Danlos Syndrome, Vascular Type	Periodontitis, Uterine rupture, Cryptorchidism, Talipes equinovarus, Pulmonary bulla, Finger join...	OMIM:130050
Pseudohermaphroditism, Female, With Skeletal Anomalies	Short mandibular condyles, Hypoplasia of the maxilla	OMIM:264270
Ablepharon-Macrostomia Syndrome	Low-set ears, Toe syndactyly, Microtia, third degree, Hypoplasia of the zygomatic bone, Hearing i...	OMIM:200110
Leydig Cell Hypoplasia	Male hypogonadism, Breast aplasia, Increased circulating gonadotropin level, Hypoplasia of the Le...	ORPHA:755
Mandibuloacral Dysplasia With Type B Lipodystrophy	Micrognathia, Acroosteolysis of distal phalanges (feet), Narrow nasal ridge, Osteolytic defects o...	OMIM:608612
Congenital Heart Defects And Skeletal Malformations Syndrome	Aortic root aneurysm, Sandal gap, Congenital diaphragmatic hernia, Cryptorchidism, Arachnodactyly...	OMIM:617602
Holoprosencephaly 7	Wide nasal bridge, Hypoplastic nasal septum, Hypoplasia of the premaxilla, Short nose, Depressed ...	OMIM:610828
Mitochondrial Complex Iv Deficiency, Nuclear Type 23	Elbow contracture, Knee contracture, Inguinal hernia, Umbilical hernia	OMIM:620275
Mandibuloacral Dysplasia Progeroid Syndrome	Thin ribs, Delayed cranial suture closure, Decreased fibular diameter, Dysplasia of the femoral h...	OMIM:619127
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency	Platyspondyly, Growth arrest lines, Abnormal pelvic girdle bone morphology, Failure to thrive, Sp...	OMIM:102700
Non-Syndromic Posterior Hypospadias	Urethral diverticulum, Bifid scrotum, Congenital diaphragmatic hernia, Cryptorchidism, Displaceme...	ORPHA:95706
Arterial Tortuosity Syndrome	Aortic root aneurysm, Esophagitis, Arachnodactyly, Hip dislocation, Avascular necrosis of the cap...	ORPHA:3342
Microphthalmia, Syndromic 2	2-3 toe cutaneous syndactyly, Hand clenching, Sandal gap, Broad hallux, Umbilical hernia, Septate...	OMIM:300166
Viss Syndrome	Iliac artery aneurysm, Aortic root aneurysm, Tortuous cerebral arteries, Micrognathia, Genu valgu...	OMIM:619472
Orofaciodigital Syndrome Ii	Depressed nasal bridge, Bifid nasal tip, Broad nasal tip, Conductive hearing impairment, Hypoplas...	OMIM:252100
Intellectual Developmental Disorder, X-Linked, Syndromic, Turner Type	Low-set ears, Depressed nasal bridge, Broad nasal tip, Cupped ear, Hearing impairment, Bulbous no...	OMIM:309590
Trichothiodystrophy	Eczematoid dermatitis, Umbilical hernia, Gonadal dysgenesis, Absence of subcutaneous fat, Multipl...	ORPHA:33364
Mucopolysaccharidosis Type 2, Severe Form	Recurrent upper respiratory tract infections, Camptodactyly of finger, Umbilical hernia, Heparan ...	ORPHA:217085
Kleefstra Syndrome Due To 9Q34 Microdeletion	Tetralogy of Fallot, Vesicoureteral reflux, Renal insufficiency, Inguinal hernia, Cryptorchidism,...	ORPHA:96147
Lumbar Syndrome	Renal agenesis, Bifid scrotum, Myelomeningocele, Vesicoureteral reflux, Cryptorchidism, Renal dup...	ORPHA:83628
Global Developmental Delay-Neuro-Ophthalmological Abnormalities-Seizures-Intellectual Disability Syndrome	Hydronephrosis, High palate, Cleft palate	ORPHA:488613
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1	Low-set ears, Congenital contracture, Atresia of the external auditory canal, Micrognathia, Micro...	OMIM:236670
Jacobsen Syndrome	Low-set ears, Depressed nasal bridge, Anteverted nares, Micrognathia, Microcephaly, Macrocephaly,...	OMIM:147791
Mucolipidosis Type Ii	Umbilical hernia, Limited wrist movement, Decreased movement range in interphalangeal joints, Hep...	ORPHA:576
Warburg-Cinotti Syndrome	Low-set ears, Ankle flexion contracture, Hypoplasia of the ear cartilage, Conductive hearing impa...	OMIM:618175
Icf Syndrome	Recurrent respiratory infections, Micrognathia, Umbilical hernia	ORPHA:2268
Rapp-Hodgkin Syndrome	Depressed nasal bridge, Hypoplasia of the maxilla, Carious teeth, Hearing impairment, Underdevelo...	OMIM:129400
Cadds	Micrognathia, Short nose, Sensorineural hearing impairment	ORPHA:369942
Fontaine Progeroid Syndrome	Short distal phalanx of finger, Small scrotum, Absent nipple, Pulmonary hypoplasia, Umbilical her...	OMIM:612289
Diaphragmatic Hernia 4, With Cardiovascular Defects	Aortopulmonary collateral arteries, Pulmonary artery hypoplasia, Aortic root aneurysm, Finger syn...	OMIM:620025
Mucopolysaccharidosis Type 2, Attenuated Form	Recurrent upper respiratory tract infections, Camptodactyly of finger, Umbilical hernia, Heparan ...	ORPHA:217093
Intellectual Disability-Dysmorphism-Hypogonadism-Diabetes Mellitus Syndrome	Hypoplasia of the maxilla, Cleft ala nasi, Narrow nasal base, Mandibular prognathia, Wide nose	ORPHA:3044
Familial Cerebral Saccular Aneurysm	Abnormal circle of Willis morphology, Aortic root aneurysm, Aortic dissection, Atherosclerosis, T...	ORPHA:231160
Cowden Syndrome 5	Progressive macrocephaly, Hypoplasia of the maxilla, Micrognathia, Hearing impairment	OMIM:615108
Neurodegeneration With Brain Iron Accumulation 2A	Micrognathia, Hearing impairment, Short nose	OMIM:256600
Phosphoribosylpyrophosphate Synthetase Superactivity	Urolithiasis, Renal insufficiency, Gout, Hyperuricosuria, Uric acid nephrolithiasis, High palate,...	OMIM:300661
Diamond-Blackfan Anemia 8	Wide nasal bridge, Short nose	OMIM:612563
Heterotaxy, Visceral, 1, X-Linked	Bilateral trilobed lung, Left superior vena cava draining to coronary sinus, Hepatomegaly, Bilate...	OMIM:306955
Peroxisome Biogenesis Disorder 4B	Hepatomegaly, Ureterocele, Decreased liver function	OMIM:614863
Loeys-Dietz Syndrome 4	Aortic root aneurysm, Aortic dissection, Arterial tortuosity, Emphysema, Dilatation of the cerebr...	OMIM:614816
Nijmegen Breakage Syndrome	Choanal atresia, Sandal gap, Recurrent urinary tract infections, Recurrent otitis media, Microgna...	OMIM:251260
Halperin-Birk Syndrome	Umbilical hernia, Micrognathia, Inguinal hernia, Congenital diaphragmatic hernia, Talipes equinov...	OMIM:618651
Cataracts, Hearing Impairment, Nephrotic Syndrome, And Enterocolitis 1	Hypoplasia of the maxilla, Micrognathia, Hearing impairment	OMIM:301108
Lathosterolosis	Hearing impairment, Bulbous nose, Anteverted nares, Micrognathia, Microcephaly, Biparietal narrow...	ORPHA:46059
Intellectual Developmental Disorder, X-Linked 112	Enuresis nocturna, Enuresis, Dilatation of the renal pelvis, Horseshoe kidney, Pyelonephritis, Ri...	OMIM:301111
Ocular Anomalies-Axonal Neuropathy-Developmental Delay Syndrome	Micrognathia, Mandibular prognathia, Short nose	ORPHA:496790
Kaufman Oculocerebrofacial Syndrome	Low-set ears, Depressed nasal bridge, Carious teeth, Anteverted nares, Micrognathia, Microcephaly...	OMIM:244450
Caffey Disease	Periosteal thickening of long tubular bones, Tibial bowing, Bowing of the legs	OMIM:114000
Chops Syndrome	Tracheomalacia, Hearing impairment, Anteverted nares, Cervical C2/C3 vertebral fusion, Microcepha...	OMIM:616368
Lung Agenesis, Congenital Heart Defects, And Thumb Anomalies Syndrome	Coarctation of aorta, Bilateral lung agenesis, Patent ductus arteriosus	OMIM:601612
Arachnodactyly-Abnormal Ossification-Intellectual Disability Syndrome	Micrognathia, Short nose	ORPHA:1129
Cleft Lip/Palate-Intestinal Malrotation-Cardiopathy Syndrome	Broad thumb, Micrognathia, Abnormal aortic morphology, Clinodactyly of the 5th finger, Patent duc...	ORPHA:2001
Autosomal Recessive Faciodigitogenital Syndrome	Anteverted nares, Prominent nasal bridge, Micrognathia, Joint hypermobility, Overfolded helix, Po...	ORPHA:1974
Cardiac-Urogenital Syndrome	Interrupted aortic arch, Accessory spleen, Bifid scrotum, Tetralogy of Fallot, Scimitar anomaly, ...	OMIM:618280
Cowden Syndrome 6	Progressive macrocephaly, Hypoplasia of the maxilla, Micrognathia, Hearing impairment	OMIM:615109
Phosphoribosylpyrophosphate Synthetase Superactivity	Renal insufficiency, Abnormal aortic morphology	ORPHA:3222
Vitamin K-Dependent Clotting Factors, Combined Deficiency Of, 1	Epistaxis, Joint hemorrhage, Epiphyseal stippling, Short nose	OMIM:277450
Pontocerebellar Hypoplasia, Type 10	Wide nasal bridge, Underdeveloped nasal alae, Bulbous nose, Microcephaly, Progressive microcephal...	OMIM:615803
Intellectual Developmental Disorder, Autosomal Dominant 71, With Behavioral Abnormalities	Toe clinodactyly, Wide nasal bridge, Broad nasal tip, Sandal gap, Hydronephrosis, Protruding ear,...	OMIM:620330
Neurooculorenal Syndrome	Unilateral renal agenesis, Hypoplasia of the bladder, Short 1st metacarpal, Bilateral renal agene...	OMIM:620305
Transaldolase Deficiency	Hepatic fibrosis, Clitoral hypertrophy, Micronodular cirrhosis, Decreased liver function, Hepatos...	OMIM:606003
Microphthalmia, Syndromic 1	Renal hypoplasia, Joint contracture of the hand, Hydroureter, Clinodactyly, Prominent fingertip p...	OMIM:309800
46,Xx Difference Of Sex Development-Skeletal Anomalies Syndrome	Ambiguous genitalia, female, Deformed humerus, Micrognathia, Mandibular condyle hypoplasia, Fused...	ORPHA:2975
Kaposiform Lymphangiomatosis	Epidural hemorrhage, Abnormal lung morphology, Fractures of the long bones, Hepatosplenomegaly, A...	ORPHA:464329
Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome	Low-set ears, Macrocephaly, Short nose, Contracture of the proximal interphalangeal joint of the ...	ORPHA:457279
Frontofacionasal Dysplasia	Bifid nasal tip, Choanal atresia, Depressed nasal ridge, Depressed nasal bridge, Dimple on nasal ...	ORPHA:1791
Congenitally Uncorrected Transposition Of The Great Arteries	Interrupted aortic arch, Abnormal aortic arch morphology, Abnormal coronary artery morphology, De...	ORPHA:860
Dend Syndrome	Anteverted nares, Thickened ears, Short nose	ORPHA:79134
Neurodevelopmental Disorder With Hypotonia, Impaired Speech, And Behavioral Abnormalities	Anteverted nares, Short nose	OMIM:619854
Turner Syndrome Due To Structural X Chromosome Anomalies	Low-set ears, Hearing impairment, Recurrent otitis media, Genu valgum, Micrognathia, Hepatic stea...	ORPHA:99413
Mosaic Monosomy X	Low-set ears, Hearing impairment, Recurrent otitis media, Genu valgum, Micrognathia, Hepatic stea...	ORPHA:99228
Monosomy X	Low-set ears, Hearing impairment, Recurrent otitis media, Genu valgum, Micrognathia, Hepatic stea...	ORPHA:99226
Turner Syndrome	Low-set ears, Hearing impairment, Recurrent otitis media, Genu valgum, Micrognathia, Hepatic stea...	ORPHA:881
5Q14.3 Microdeletion Syndrome	Anteverted nares, Short nose	ORPHA:228384
Moebius Syndrome	Aplasia/Hypoplasia of the radius, Finger syndactyly, Hearing impairment, Absent hand, Aplasia/Hyp...	ORPHA:570
Williams-Beuren Syndrome	Recurrent otitis media, Radioulnar synostosis, Renal insufficiency, Inguinal hernia, Abnormal ren...	OMIM:194050
Vascular Ehlers-Danlos Syndrome	Periodontitis, Uterine rupture, Cryptorchidism, Talipes equinovarus, Hypospadias, Pulmonary arter...	ORPHA:286
Hypothyroidism Due To Deficient Transcription Factors Involved In Pituitary Development Or Function	Ectopic posterior pituitary, Abnormal epiphysis morphology, Short finger, Umbilical hernia, Hypop...	ORPHA:226307
Mowat-Wilson Syndrome Due To Monosomy 2Q22	Multicystic kidney dysplasia, Recurrent otitis media, Long hallux, Secondary microcephaly, Genu v...	ORPHA:261537
Mandibuloacral Dysplasia With Type B Lipodystrophy	Micrognathia, Acroosteolysis of distal phalanges (feet), Convex nasal ridge, Osteolytic defects o...	ORPHA:90154
Prolidase Deficiency	Concave nasal ridge, Depressed nasal bridge, Micrognathia, Short nose	OMIM:170100
Methimazole Embryofetopathy	Coarctation of aorta, Hypospadias, Abnormal aortic morphology	ORPHA:1923
Hyperphosphatasia With Impaired Intellectual Development Syndrome 3	Wide nasal bridge, Broad nasal tip, Sensorineural hearing impairment, Microcephaly, Short nose	OMIM:614207
Genitourinary And/Or Brain Malformation Syndrome	Low-set ears, Abnormality of the outer ear, Secondary microcephaly, Joint stiffness, Micrognathia...	OMIM:618820
Chromosome 14Q11-Q22 Deletion Syndrome	Low-set ears, Depressed nasal bridge, Wide nasal bridge, Micrognathia, Microcephaly, Short nose	OMIM:613457
Gabriele-De Vries Syndrome	Low-set ears, Sandal gap, Bulbous nose, Micrognathia, Ureteropelvic junction obstruction, Sydney ...	ORPHA:506358
Aicardi Syndrome	Block vertebrae, Anteverted nares, Butterfly vertebrae, Prominence of the premaxilla, Missing rib...	OMIM:304050
Absent Radius-Anogenital Anomalies Syndrome	Oligodactyly, Hypoplasia of the radius, Ectrodactyly	ORPHA:3016
Down Syndrome	Sandal gap, Umbilical hernia, Tetralogy of Fallot, Bilateral single transverse palmar creases, Re...	ORPHA:870
Progressive Essential Tremor-Speech Impairment-Facial Dysmorphism-Intellectual Disability-Abnormal Behavior Syndrome	High, narrow palate, Ureteral duplication, Duplication of renal pelvis	ORPHA:457212
Crane-Heise Syndrome	Aplastic clavicle, Hypoplastic scapulae, Toe syndactyly, Short distal phalanx of finger, Finger s...	ORPHA:1512
Hereditary Acrokeratotic Poikiloderma	Abnormality of the urethra, Finger syndactyly, Hearing impairment, Camptodactyly of finger, Abnor...	ORPHA:2907
Genetic Transient Congenital Hypothyroidism	Prolonged neonatal jaundice, Thyroid hypoplasia, Goiter, Umbilical hernia	ORPHA:226316
Congenital Heart Defects, Multiple Types, 4	Tetralogy of Fallot, Coarctation of aorta	OMIM:615779
Treacher Collins Syndrome 1	Choanal atresia, Conductive hearing impairment, Atresia of the external auditory canal, Micrognat...	OMIM:154500
Osteopetrosis With Renal Tubular Acidosis	Conductive hearing impairment, Retrognathia, Failure to thrive, Persistence of primary teeth, Dis...	ORPHA:2785
46,Xy Partial Gonadal Dysgenesis	Clitoral hypertrophy, Elevated circulating luteinizing hormone level, Abnormal vagina morphology,...	ORPHA:251510
Atrial Septal Defect 4	Coarctation of aorta	OMIM:611363
Congenital Syphilis	Hearing impairment, Hyperplasia of the maxilla, Hepatosplenomegaly, Tibial bowing, Synovitis, Not...	ORPHA:499009
Noonan Syndrome 3	Low-set ears, Hypoplastic nasal bridge, Anteverted nares, Sagittal craniosynostosis, Left unilamb...	OMIM:609942
X-Linked Intellectual Disability, Cantagrel Type	Short nose	ORPHA:85277
Pituitary Hormone Deficiency, Combined Or Isolated, 1	Depressed nasal bridge, Anteverted nares, Malar flattening, Concave nasal ridge, Short nose	OMIM:613038
Congenital Heart Defects, Hamartomas Of Tongue, And Polysyndactyly	Postaxial polydactyly type A, Broad hallux, 2-3 toe syndactyly, Coarctation of aorta, 2-3 finger ...	OMIM:217085
Primrose Syndrome	Wide nasal bridge, Depressed nasal bridge, Hypoplasia of the maxilla, Broad nasal tip, Hearing im...	OMIM:259050
Oculocerebral Hypopigmentation Syndrome, Cross Type	Depressed nasal bridge, Limitation of joint mobility, Anteverted nares, Sensorineural hearing imp...	ORPHA:2719
Microform Holoprosencephaly	Choanal atresia, Narrow nasal bridge, Anteverted nares, Midnasal stenosis, Microcephaly, Short nose	ORPHA:280200
Craniosynostosis And Dental Anomalies	Lambdoidal craniosynostosis, Coronal craniosynostosis, Depressed nasal bridge, Hypoplasia of the ...	OMIM:614188
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome	Esophageal carcinoma, Inflammatory abnormality of the skin, Functional abnormality of the bladder...	ORPHA:391487
Microphthalmia, Syndromic 3	Butterfly vertebrae, Sensorineural hearing impairment, Missing ribs, Microcephaly, Rib fusion, Su...	OMIM:206900
Restrictive Dermopathy	Hypospadias, Pulmonary hypoplasia, Structural foot deformity, Camptodactyly of finger, Small plac...	ORPHA:1662
Mowat-Wilson Syndrome	Multicystic kidney dysplasia, Recurrent otitis media, Genu valgum, Decreased body weight, Sensori...	ORPHA:2152
Coffin-Siris Syndrome	Wide nasal base, Depressed nasal bridge, Recurrent upper respiratory tract infections, Broad nasa...	ORPHA:1465
Renal Nutcracker Syndrome	Varicocele, Dilatation of mesenteric artery, Renal artery stenosis, Hematuria, Proteinuria, Vulva...	ORPHA:71273
Antley-Bixler Syndrome With Genital Anomalies And Disordered Steroidogenesis	Low-set ears, Joint contracture of the hand, Carpal synostosis, Humeroradial synostosis, Arachnod...	OMIM:201750
Restrictive Dermopathy 1	Pulmonary hypoplasia, Rocker bottom foot, Overtubulated long bones, Hydropic placenta, Micrognath...	OMIM:275210
Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 1	Progressive congenital scoliosis, Congenital hip dislocation, Platyspondyly, Thin ribs, Joint dis...	OMIM:225400
Ctcf-Related Neurodevelopmental Disorder	Osteopenia, Macrodontia of permanent maxillary central incisor, Broad nasal tip, Cupped ear, Low-...	ORPHA:363611
Hypermobile Ehlers-Danlos Syndrome	Arterial dissection, Atypical scarring of skin, Aortic root aneurysm, Elbow dislocation, Umbilica...	ORPHA:285
Congenital Heart Defects, Multiple Types, 7	Aortopulmonary collateral arteries, Tetralogy of Fallot, Right aortic arch, Pulmonary artery atre...	OMIM:618780
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation	Multicystic kidney dysplasia, Recurrent otitis media, Long hallux, Secondary microcephaly, Genu v...	ORPHA:261552
Ifap Syndrome 1, With Or Without Bresheck Syndrome	Unilateral renal agenesis, Multicystic kidney dysplasia, Hip dislocation, Keratitis, Renal agenes...	OMIM:308205
Mucopolysaccharidosis Type 2	Hip osteoarthritis, Recurrent upper respiratory tract infections, Contractures of the large joint...	ORPHA:580
Acrocephalopolydactylous Dysplasia	Low-set ears, Craniosynostosis, Abnormal pinna morphology, Short nose	OMIM:200995
Pallister-Killian Syndrome	Small scrotum, Small hand, Postaxial foot polydactyly, Supernumerary nipple, Micrognathia, Congen...	OMIM:601803
Congenital Heart Defects, Multiple Types, 8, With Or Without Heterotaxy	Low-set ears, Toe syndactyly, Subglottic stenosis, Bilateral single transverse palmar creases, As...	OMIM:619657
Biliary, Renal, Neurologic, And Skeletal Syndrome	Broad thumb, Dilatation of the renal pelvis, Cholestasis, Dark urine, Congenital hepatic fibrosis...	OMIM:619534
Pontine Tegmental Cap Dysplasia	Rib fusion, Scoliosis, Hemivertebrae, Sensorineural hearing impairment	OMIM:614688
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate	Wide nasal bridge, Hypoplasia of the maxilla, Conductive hearing impairment, Bilateral choanal at...	OMIM:106260
Brittle Cornea Syndrome 2	Inguinal hernia, Umbilical hernia	OMIM:614170
Aortic Aneurysm, Familial Thoracic 11, Susceptibility To	Aortic aneurysm, Descending aortic dissection, Ascending aortic dissection	OMIM:617349
Smooth Muscle Dysfunction Syndrome	Pulmonary artery dilatation, Dilatation of the cerebral artery, Aortic arch aneurysm, Cryptorchid...	OMIM:613834
Cowden Syndrome 1	Progressive macrocephaly, Hypoplasia of the maxilla, Micrognathia, Hearing impairment	OMIM:158350
Hypoplastic Left Heart Syndrome 1	Coarctation of aorta	OMIM:241550
Angelman Syndrome	Secondary microcephaly, Hypoplasia of the maxilla, Mandibular prognathia	OMIM:105830
Sirenomelia	Aplasia/Hypoplasia of the radius, Abnormality of the urinary system, Absence of the sacrum, Siren...	ORPHA:3169
Cutis Laxa, Autosomal Recessive, Type Iic	Low-set ears, Hypoplasia of the maxilla, Broad nasal tip, Broad columella, Narrow naris, Antevert...	OMIM:617402
Renal And Mullerian Duct Hypoplasia	Micrognathia, Short nose	OMIM:266810
Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency	Acute hepatic steatosis, Hepatitis, Aortic atherosclerotic lesion, Cholesterol gallstones, Choles...	ORPHA:209902
Abnormal Origin Of Right Or Left Pulmonary Artery From The Aorta	Abnormal aortic arch morphology, Pulmonary hypoplasia, Arteria lusoria, Abnormal descending aorta...	ORPHA:99050
Congenital Heart Defects, Multiple Types, 6	Total anomalous pulmonary venous return, Tetralogy of Fallot, Right aortic arch, Coarctation of a...	OMIM:613854
Culler-Jones Syndrome	Ectopic posterior pituitary, Hypopituitarism, Hypogonadism, Cryptorchidism, Postaxial polydactyly...	OMIM:615849
Congenital Tracheal Stenosis	Meckel diverticulum, Duodenal stenosis, Abnormal stomach morphology, Abnormality of the ureter, A...	ORPHA:141127
Cleft Lip/Palate-Ectodermal Dysplasia Syndrome	Small scrotum, Toe syndactyly, Finger syndactyly, Abnormal dental enamel morphology, Abnormality ...	ORPHA:3253
Schimmelpenning-Feuerstein-Mims Syndrome	Precocious puberty, Horseshoe kidney, Hyperphosphaturia, Coarctation of aorta, Abnormal finger mo...	OMIM:163200
Right Atrial Isomerism	Aortopulmonary collateral arteries, Total anomalous pulmonary venous return, Polysplenia, Abnorma...	OMIM:208530
Stickler Syndrome	Depressed nasal ridge, Depressed nasal bridge, Hypoplasia of the maxilla, Microretrognathia, Hear...	ORPHA:828
Developmental And Epileptic Encephalopathy 85 With Or Without Midline Brain Defects	Choanal atresia, Retrognathia, Narrow nose, Anteverted nares, Contracture of the proximal interph...	OMIM:301044
Lymphangiectasia, Intestinal	Prominent floating ribs	OMIM:152800
Alkaptonuria	Elevated urinary homogentisic acid, Decreased glomerular filtration rate, Dark urine, Interverteb...	OMIM:203500
Knobloch Syndrome	Occipital encephalocele, Bifid ureter, Vesicoureteral reflux, Patent ductus arteriosus, Pyloric s...	ORPHA:1571
Holoprosencephaly	Spinal dysraphism, Abnormality of the urinary system, Tetralogy of Fallot, Panhypopituitarism, Ab...	ORPHA:2162
Malignant Migrating Focal Seizures Of Infancy	Aortopulmonary collateral arteries, Precocious puberty	ORPHA:293181
Giant Cell Arteritis	Vasculitis, Hepatic failure, Aortic dissection, Double outlet right ventricle with subpulmonary v...	ORPHA:397
Isolated Cleft Lip	Talipes equinovarus, Chronic otitis media, Umbilical hernia	ORPHA:199302
Ring Chromosome 7 Syndrome	Wide nasal bridge, Narrow naris, Prominent crus of helix, Anteverted nares, Prominent nasal bridg...	ORPHA:1449
Toriello-Lacassie-Droste Syndrome	Hearing impairment, Anteverted nares, Abnormality of the ear, Macrocephaly, Short nose	ORPHA:3339
Microlissencephaly-Micromelia Syndrome	Secondary microcephaly, Short nose	ORPHA:50810
Microcephaly, Short Stature, And Polymicrogyria With Or Without Seizures	Thin ribs, Microcephaly, Flexion contracture	OMIM:614833
Craniorachischisis	Bifid sternum, Sirenomelia	ORPHA:63260
Hypermethioninemia Due To Adenosine Kinase Deficiency	Portal fibrosis, Cholestasis, Narrow foot, Hepatic steatosis, Coarctation of aorta, Elevated circ...	OMIM:614300
Okur-Chung Neurodevelopmental Syndrome	Broad hallux, Umbilical hernia, Micrognathia, Inguinal hernia, Single transverse palmar crease, B...	OMIM:617062
Tolchin-Le Caignec Syndrome	Precocious puberty, Umbilical hernia, Micrognathia, Diastasis recti, Arachnodactyly, Clinodactyly...	OMIM:618971
Wiedemann-Steiner Syndrome	Low-set ears, Wide nasal bridge, Microcephaly, Hyperextensibility at elbow, Short nose	ORPHA:319182
Galloway-Mowat Syndrome 3	Stage 5 chronic kidney disease, Micrognathia, Hiatus hernia, Proteinuria, Coarctation of aorta, D...	OMIM:617729
Myofibrillar Myopathy 11	Coarctation of aorta, Calf muscle hypertrophy	OMIM:619178
Chronic Recurrent Multifocal Osteomyelitis 2, With Periostitis And Pustulosis	Osteopenia, Broad ribs, Osteomyelitis, Flaring of rib cage, Osteolysis, Fused cervical vertebrae	OMIM:612852
Prader-Willi Syndrome Due To Translocation	Broad nasal tip, Carious teeth, Retrognathia, Prominent nose, Anteverted nares, Underdeveloped na...	ORPHA:177907
Loeys-Dietz Syndrome 1	Low-set ears, Pectus carinatum, Abnormal sternum morphology, Spondylolisthesis, Joint hypermobili...	OMIM:609192
Witteveen-Kolk Syndrome	Flared nostrils, Hearing impairment, Hyperplasia of the maxilla, Glue ear, Sensorineural hearing ...	OMIM:613406
Maternal Phenylketonuria	Clinodactyly, Tetralogy of Fallot, Micrognathia, Abnormal renal morphology, Coarctation of aorta,...	ORPHA:2209
Androgen Insensitivity, Partial	Absent vas deferens, Bifid scrotum, Hypogonadism, Azoospermia, Cryptorchidism, Male pseudohermaph...	OMIM:312300
Noonan Syndrome	Dilatation of the renal pelvis, Abnormality of the spleen, Micrognathia, Cryptorchidism, Pulmonar...	ORPHA:648
Beckwith-Wiedemann Syndrome	Nephrocalcinosis, Pancreatic hyperplasia, Overgrowth of external genitalia, Renal cortical cysts,...	OMIM:130650
Atypical Werner Syndrome	Chondrocalcinosis, Glycosuria, Finger clinodactyly, Failure to thrive, Progressive clavicular acr...	ORPHA:79474
Cutis Laxa, Autosomal Recessive, Type Ib	Low-set ears, Depressed nasal bridge, Retrognathia, Bulbous nose, Micrognathia, Joint hypermobili...	OMIM:614437
Knobloch Syndrome 1	Occipital encephalocele, Bifid ureter, Renal duplication, Hydronephrosis, Duplicated collecting s...	OMIM:267750
Partial Atrioventricular Septal Defect	Bacterial endocarditis, Tetralogy of Fallot, Transient ischemic attack, Coarctation of aorta, Dou...	ORPHA:1330
Mosaic Variegated Aneuploidy Syndrome	Multicystic kidney dysplasia, Abnormal lung lobation, Vaginal neoplasm, Micrognathia, Abnormal ao...	ORPHA:1052
Agenesis Of Corpus Callosum, Cardiac, Ocular, And Genital Syndrome	Micropenis, Coarctation of aorta, Cryptorchidism, Supernumerary nipple	OMIM:618929
Ileal Neuroendocrine Tumor	Hepatic failure, Elevated circulating hepatic transaminase concentration, Intestinal fistula, Hyd...	ORPHA:100078
Autosomal Dominant Cutis Laxa	Genu recurvatum, Unilateral renal agenesis, Peripheral pulmonary artery stenosis, Bronchiectasis,...	ORPHA:90348
Aortic Arch Interruption, Facial Palsy, And Retinal Coloboma	Interrupted aortic arch, Coarctation of aorta	OMIM:107550
Polymicrogyria With Or Without Vascular-Type Ehlers-Danlos Syndrome	Slender finger, Atypical scarring of skin, Aortic dissection, Atrophic scars, Micrognathia, Talip...	OMIM:618343
Kabuki Syndrome 2	Short 5th finger, Prominent fingertip pads, Horseshoe kidney, Recurrent otitis media, Micrognathi...	OMIM:300867
Osteopetrosis, Autosomal Recessive 7	Splenomegaly, Multiple rib fractures, Femur fracture, Hepatomegaly, Increased head circumference	OMIM:612301
X-Linked Myotubular Myopathy-Abnormal Genitalia Syndrome	Thin ribs, Joint hypermobility	ORPHA:456328
Craniofaciofrontodigital Syndrome	Abnormal cerebral vascular morphology, Dilatation of the cerebral artery, Hernia, Palmoplantar cu...	ORPHA:363705
Popliteal Pterygium Syndrome	Small scrotum, Bifid uvula, Bifid scrotum, Cutaneous finger syndactyly, Cryptorchidism, Talipes e...	OMIM:119500
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 13	Multicystic kidney dysplasia, Occipital encephalocele, Decreased testicular size, 11 pairs of rib...	OMIM:615287
Global Developmental Delay, Absent Or Hypoplastic Corpus Callosum, And Dysmorphic Facies	Decreased response to growth hormone stimulation test, Renal cyst, Coarctation of aorta, Pes plan...	OMIM:617260
Degcags Syndrome	Low-set ears, Osteopenia, Tracheomalacia, Hearing impairment, Retrognathia, Prominent nose, Antev...	OMIM:619488
Pheochromocytoma	Proteinuria, Renal artery stenosis, Elevated urinary norepinephrine level	OMIM:171300
Dyskeratosis Congenita	Hypoplasia of the maxilla, Carious teeth, Coarse metaphyseal trabecularization, Hearing impairmen...	ORPHA:1775
Neurodevelopmental Disorder With Dysmorphic Facies, Impaired Speech, And Hypotonia	Depressed nasal bridge, Underdeveloped nasal alae, Anteverted nares, Micrognathia, Low insertion ...	OMIM:619005
You-Hoover-Fong Syndrome	Clinodactyly, Coarctation of aorta, Brachydactyly, Double aortic arch, Vascular ring	OMIM:616954
Mayer-Rokitansky-Küster-Hauser Syndrome	Ectopic ovary, Unilateral renal agenesis, Horseshoe kidney, Aplasia of the ovary, Endometriosis, ...	ORPHA:3109
Holoprosencephaly 3	Hydronephrosis, Bifid uvula, Cleft palate	OMIM:142945
Reactive Arthritis	Inflammation of the large intestine, Osteomyelitis, Abnormal pleura morphology, Recurrent aphthou...	ORPHA:29207
Autosomal Dominant Centronuclear Myopathy	Thin ribs, Macrocephaly at birth	ORPHA:169189
Marfan Syndrome	Aortic root aneurysm, Premature osteoarthritis, Micrognathia, Reduced subcutaneous adipose tissue...	OMIM:154700
Usher Syndrome, Type Ig	Abnormal vestibular function, Hypoplasia of the nasal bone, Sensorineural hearing impairment	OMIM:606943
Homozygous Familial Hypercholesterolemia	Premature coronary artery atherosclerosis, Aortic atherosclerotic lesion, Calcification of the ao...	ORPHA:391665
Johanson-Blizzard Syndrome	Sensorineural hearing impairment, Elevated circulating alanine aminotransferase concentration, He...	OMIM:243800
Loeys-Dietz Syndrome	Arterial dissection, Atypical scarring of skin, Aortic dissection, Uterine rupture, Camptodactyly...	ORPHA:60030
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome	Precocious puberty, Anomalous origin of left subclavian artery, Increased circulating prolactin c...	ORPHA:438213
Hypohidrotic Ectodermal Dysplasia	Hypoplasia of the maxilla, Anteverted nares, Sinusitis	ORPHA:238468
Thyroid Ectopia	Jaundice, Lingual thyroid, Ectopic thyroid, Umbilical hernia	ORPHA:95712
Aortic Valve Disease 2	Calcification of the aorta, Aortic aneurysm, Coarctation of aorta, Aortic tortuosity, Ascending a...	OMIM:614823
Marfan Syndrome	Arterial dissection, Spontaneous pneumothorax, Aortic root aneurysm, Aortic dissection, Pulmonary...	ORPHA:558
Molybdenum Cofactor Deficiency, Type B	Microcephaly, Short nose, Macrocephaly	OMIM:252160
Double Outlet Right Ventricle	Tetralogy of Fallot, Truncus arteriosus, Coarctation of aorta, Double outlet right ventricle, Hyp...	ORPHA:3426
Ectodermal Dysplasia 1, Hypohidrotic, X-Linked	Depressed nasal bridge, Hypoplasia of the maxilla, Underdeveloped nasal alae, Taurodontia, Rhinit...	OMIM:305100
Lethal Congenital Contracture Syndrome 5	Thin ribs, Flexion contracture, Congenital contracture	OMIM:615368
Helsmoortel-Van Der Aa Syndrome	Low-set ears, Wide nasal bridge, Broad nasal tip, Cupped ear, Carious teeth, Anteverted nares, Jo...	OMIM:615873
Molybdenum Cofactor Deficiency, Type A	Microcephaly, Short nose, Macrocephaly	OMIM:252150
Neurofibromatosis, Type I	Pheochromocytoma, Genu valgum, Tibial pseudarthrosis, Renal artery stenosis, Spina bifida, Parath...	OMIM:162200
Congenital Heart Defects, Multiple Types, 9	Aortopulmonary collateral arteries, Arteria lusoria, Truncus arteriosus, Transposition of the gre...	OMIM:620294
Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion	Broad nasal tip, Hearing impairment, Underdeveloped nasal alae, Retrognathia, Prominent nasal bri...	ORPHA:268261
Phace Association	Arterial stenosis, Lingual thyroid, Aortic aneurysm, Coarctation of aorta, Anomalous branches of ...	OMIM:606519
Absence Of The Pulmonary Artery	Recurrent pneumonia, Abnormal coronary artery morphology, Tetralogy of Fallot, Abnormal inferior ...	ORPHA:980
Short Stature, Brachydactyly, Impaired Intellectual Development, And Seizures	Wide nasal bridge, Depressed nasal bridge, Broad nasal tip, Retrognathia, Narrow naris, Anteverte...	OMIM:617157
Cardiac Septal Defects With Coarctation Of The Aorta	Coarctation of aorta	OMIM:212090
Hypoplasminogenemia	Periodontitis, Abnormality of the ovary, Nephrolithiasis, Abnormal fallopian tube morphology, Duo...	ORPHA:722
Deeah Syndrome	Low-set ears, Hearing impairment, Retrognathia, Prominent nasal tip, Short nose	OMIM:619004
Pseudo-Torch Syndrome 2	Thin ribs, Microcephaly	OMIM:617397
Myotubular Myopathy With Abnormal Genital Development	Thin ribs, Joint hypermobility	OMIM:300219
Proboscis Lateralis	Unilateral renal agenesis, Duplication of renal pelvis, Ureteral agenesis, External genital hypop...	ORPHA:141099
Noonan Syndrome 10	Pleural effusion, Cryptorchidism, Palmoplantar cutis laxa, Coarctation of aorta, Cubitus valgus, ...	OMIM:616564
Heterotaxy, Visceral, 8, Autosomal	Aortopulmonary collateral arteries, Abdominal situs inversus, Congenitally corrected transpositio...	OMIM:617205
Frontofacionasal Dysplasia	Hypoplasia of the frontal bone, Underdeveloped nasal alae, Midline defect of the nose, Malar flat...	OMIM:229400
Juvenile Polyposis/Hereditary Hemorrhagic Telangiectasia Syndrome	Aortic dissection, Hepatic arteriovenous malformation, Pulmonary arteriovenous malformation, Stro...	OMIM:175050
Umbilical Cord Ulceration-Intestinal Atresia Syndrome	Abnormal aortic morphology	ORPHA:3405
Granulomatosis With Polyangiitis	Nasal mucosa vasculitis, Subglottic stenosis, Weight loss, Concave nasal ridge, Chronic otitis media	OMIM:608710
Developmental Delay, Impaired Speech, And Behavioral Abnormalities	Wide nasal bridge, Cupped ear, Hearing impairment, Osteomyelitis, Bulbous nose, Anteverted nares,...	OMIM:619475
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies	Low-set ears, Depressed nasal bridge, Mandibular prognathia, Delayed eruption of teeth, Elbow fle...	OMIM:619503
Cocaine Intoxication	Acute kidney injury, Diffuse alveolar hemorrhage, Aortic dissection, Ischemic stroke, Hematuria, ...	ORPHA:90068
Heterotaxy, Visceral, 12, Autosomal	Dextrotransposition of the great arteries, Hypoplastic aortic arch, Right aortic arch, Abdominal ...	OMIM:619702
Hypothyroidism, Congenital, Nongoitrous, 2	Ectopic thyroid, Thyroid hypoplasia, Goiter, Umbilical hernia	OMIM:218700
Generalized Arterial Calcification Of Infancy	Nephrocalcinosis, Aortic dissection, Cortical nephrocalcinosis, Arterial calcification, Medial ca...	ORPHA:51608
Neuroocular Syndrome 1	Genu recurvatum, Prominent fingertip pads, Tibial torsion, Umbilical hernia, Tapered finger, Pes ...	OMIM:619539
Noonan Syndrome 2	Prominent fingertip pads, Micrognathia, Cryptorchidism, Pulmonary artery stenosis, Coarctation of...	OMIM:605275
15Q11.2 Microdeletion Syndrome	Tetralogy of Fallot, Coarctation of aorta, Total anomalous pulmonary venous return	ORPHA:261183
Xq21 Microdeletion Syndrome	Decreased response to growth hormone stimulation test, Renal artery stenosis, Abnormality of the ...	ORPHA:1435
17Q11 Microdeletion Syndrome	Precocious puberty, Long foot, Dilatation of the cerebral artery, Pheochromocytoma, Renal artery ...	ORPHA:97685
Fixed Subaortic Stenosis	Bacterial endocarditis, Coarctation of aorta, Patent ductus arteriosus, Ascending tubular aorta a...	ORPHA:3092
Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies	Microcephaly, Flexion contracture, Convex nasal ridge, Short nose	OMIM:619321
Infantile Hypotonia-Oculomotor Anomalies-Hyperkinetic Movements-Developmental Delay Syndrome	Prominent nasal tip, Progressive flexion contractures, Short nose, Joint hypermobility	ORPHA:522077
Geleophysic Dysplasia 2	Joint stiffness, Limitation of joint mobility, Short nose	OMIM:614185
Noonan Syndrome 1	Chylothorax, Clinodactyly, Radial deviation of finger, Hypogonadism, Micrognathia, Cryptorchidism...	OMIM:163950
Noonan Syndrome-Like Disorder With Loose Anagen Hair 2	Peripheral pulmonary artery stenosis, Aortic root aneurysm, Cryptorchidism, Coarctation of aorta,...	OMIM:617506
Oculoectodermal Syndrome	Lower limb asymmetry, Supernumerary nipple, Transient ischemic attack, Coarctation of aorta, Pate...	OMIM:600268
Neurodevelopmental Disorder With Dysmorphic Facies And Thin Corpus Callosum	Coarctation of aorta, Spina bifida, Cyst of the ductus choledochus, Patent ductus arteriosus, Tap...	OMIM:619480
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders	Joint stiffness, Flexion contracture, Short nose	ORPHA:505248
Right Pulmonary Artery, Anomalous Origin Of, Familial	Coarctation of aorta, Patent ductus arteriosus, Anomalous origin of right pulmonary artery from a...	OMIM:610338
Encephalocraniocutaneous Lipomatosis	Interrupted aortic arch, Abnormal aortic morphology, Multiple lipomas, Lipodystrophy, Coarctation...	ORPHA:2396
Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb	Short distal phalanx of finger, Broad thumb, Prominent fingertip pads, Broad hallux, Mesoaxial fo...	OMIM:612474
Mitochondrial Complex Iv Deficiency, Nuclear Type 5	Ketonuria, Bilateral superior vena cava, Micrognathia, Inguinal hernia, Microvesicular hepatic st...	OMIM:220111
Singleton-Merten Syndrome 1	Osteopenia, Hypoplasia of the maxilla, Carious teeth, Eruption failure, Hypoplasia of the tooth g...	OMIM:182250
Intellectual Developmental Disorder With Hypotonia And Behavioral Abnormalities	Tetralogy of Fallot, Coarctation of aorta, Cryptorchidism, Rectoperineal fistula	OMIM:618748
Phace Syndrome	Aortic root aneurysm, Tetralogy of Fallot, Abnormal cerebral artery morphology, Coarctation of ao...	ORPHA:42775
Axenfeld-Rieger Syndrome, Type 1	Wide nasal bridge, Hypoplasia of the maxilla	OMIM:180500
Lipodystrophy, Familial Partial, Type 7	Low-set ears, Narrow nasal ridge, Tinnitus, Short nose	OMIM:606721
Aortic Arch Interruption	Truncus arteriosus, Aortopulmonary window, Transposition of the great arteries, Double outlet rig...	ORPHA:2299
Cardiomyopathy, Dilated, 1S	Pulmonary artery hypoplasia, Coarctation of aorta	OMIM:613426
Familial Bicuspid Aortic Valve	Thoracic aorta calcification, Aortic arch aneurysm, Coarctation of aorta, Ascending aortic dissec...	ORPHA:402075
Congenital Total Pulmonary Venous Return Anomaly	Mixed total anomalous pulmonary venous connection, Recurrent respiratory infections, Pulmonary ar...	ORPHA:99125
Neurodevelopmental Disorder With Microcephaly, Cerebral Atrophy, And Visual Impairment	Coarctation of aorta	OMIM:620066

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 Bmp5

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 Bmp5.

No publications found that use IMPC mice or data for Bmp5.

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
Bmp5^{tm1e(EUCOMM)Hmgu}	Targeted, non-conditional allele	ES Cells
Bmp5^{tm40549(L1L2_st1)}	KO first allele (reporter-tagged insertion with conditional potential)	Targeting vectors
Bmp5^{tm1e(EUCOMM)Wtsi}	Targeted, non-conditional allele	ES Cells
Bmp5^{tm1a(EUCOMM)Hmgu}	KO first allele (reporter-tagged insertion with conditional potential)	Targeting vectors, ES Cells
Bmp5^em1(IMPC)Bay	Exon Deletion	Mice
Bmp5^{tm1a(EUCOMM)Wtsi}	KO first allele (reporter-tagged insertion with conditional potential)	Targeting vectors, ES Cells

Sequence

Guides

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

Nucleases

Nuclease type	Nuclease class

Genotype primers

Sequence	Name

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