Gene Summary

Name:
bone morphogenetic protein 5
Synonyms:
N/A

IMPC Phenotype Summary

Significant
Not Significant
Not tested

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.

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Viewing: all phenotypes

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

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.

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 Similarity of
phenotypes
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...