Gene Summary

Name:
collagen, type XI, alpha 1
Synonyms:
C530001D20Rik

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.

Phenotype System Allele Zyg Sex Life Stage P Value
increased heart left ventricle size Col11a1em1(IMPC)Bay HET Early adult 5.32×10-05
protruding tongue Col11a1em1(IMPC)Bay HOM E18.5 0.00
cleft palate Col11a1em1(IMPC)Bay HOM E18.5 0.00
abnormal tail morphology Col11a1em1(IMPC)Bay HOM E18.5 0.00
abnormal facial morphology Col11a1em1(IMPC)Bay HOM E18.5 0.00
abnormal limb morphology Col11a1em1(IMPC)Bay HOM E18.5 0.00
preweaning lethality, complete penetrance Col11a1em1(IMPC)Bay HOM   Early adult 0.00

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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.

Eye Morphology

VIP of left eye

17 Images

MicroCT E18.5

Embryo reconstruction

6 Images

Eye Morphology

VIP of right fundus

17 Images

Eye Morphology

VIP of left fundus

17 Images

X-ray

XRay Images Whole Body Lateral Orientation

10 Images

X-ray

XRay Images Skull Dorso Ventral Orientation

10 Images

X-ray

XRay Images Whole Body Dorso Ventral

10 Images

Eye Morphology

VIP of right eye

17 Images

X-ray

XRay Images Forepaw

10 Images

X-ray

XRay Images Skull Lateral Orientation

10 Images

Human diseases caused by Col11a1 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.

The table below shows human diseases predicted to be associated to Col11a1 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Osteoarthritis Susceptibility 3
Osteoarthritis, Osteoarthritis of the distal interphalangeal joint, Osteoarthritis of the first c... OMIM:607850
Kienbock Disease
Osteoarthritis, Limitation of joint mobility, Bone pain, Abnormality of the wrist, Avascular necr... ORPHA:97332
Chondrocalcinosis 2
Arthropathy, Polyarticular chondrocalcinosis, Osteoarthritis OMIM:118600
Osteoarthritis Susceptibility 2
Osteoarthritis, Heberden's node OMIM:140600
Osteochondrosis Of The Tarsal Bone
Abnormal tarsal ossification, Arthritis, Tarsal sclerosis, Tarsal stippling, Ankle pain, Chondrit... ORPHA:563991
Chondrocalcinosis 1
Osteoarthritis, Chondrocalcinosis OMIM:600668
Angel-Shaped Phalangoepiphyseal Dysplasia
Hyperextensibility of the finger joints, Pseudoepiphyses of the metacarpals, Premature osteoarthr... OMIM:105835
Slipped Femoral Capital Epiphyses
Hip osteoarthritis, Proximal femoral epiphysiolysis OMIM:182260
Familial Calcium Pyrophosphate Deposition
Joint dislocation, Osteoarthritis, Limitation of joint mobility, Arthritis, Joint swelling, Calci... ORPHA:1416
Peripheral Dysostosis
Joint stiffness, Osteoarthritis, Cone-shaped epiphyses of the phalanges of the hand, Clinodactyly... ORPHA:1795
Brachydactylous Dwarfism, Mseleni Type
Osteopenia, Increased inflammatory response, Protrusio acetabuli, Abnormal femoral head morpholog... ORPHA:2619
Developmental Dysplasia Of The Hip 2
Hip osteoarthritis, Arthritis, Coxa valga OMIM:615612
Beukes Hip Dysplasia
Avascular necrosis of the capital femoral epiphysis, Flat capital femoral epiphysis, Osteoarthrit... OMIM:142669
Osteoarthritis Susceptibility 1
Hip osteoarthritis OMIM:165720
Familial Avascular Necrosis Of Femoral Head
Hip osteoarthritis, Flattened femoral head, Limited hip movement, Abnormal femoral neck/head morp... ORPHA:86820
Osteochondrosis Of The Metatarsal Bone
Flattened metatarsal heads, Abnormality of the fifth metatarsal bone, Sclerosis of foot bone, Abn... ORPHA:564003
Peripheral Dysostosis
Hip osteoarthritis, Short phalanx of finger, Cone-shaped epiphyses of the phalanges of the hand OMIM:170700
Legg-Calvé-Perthes Disease
Joint dislocation, Delayed skeletal maturation, Avascular necrosis, Cartilage destruction ORPHA:2380
Spondyloepiphyseal Dysplasia Tarda, Autosomal Recessive
Hip osteoarthritis, Osteoarthritis, Flattened metacarpal heads, Flattened metatarsal heads OMIM:271600
Multiple Epiphyseal Dysplasia Type 1
Brachydactyly, Abnormal acetabulum morphology, Joint stiffness, Avascular necrosis of the capital... ORPHA:93308
Atelosteogenesis, Type Ii
Death in infancy, Sandal gap, Depressed nasal bridge, Micromelia, Micrognathia, Bifid humerus, La... OMIM:256050
Mueller-Weiss Syndrome
Limitation of movement at ankles, Sclerosis of foot bone, Joint stiffness, Tibiofibular diastasis... ORPHA:566943
Short Stature-Advanced Bone Age-Early-Onset Osteoarthritis Syndrome
Short thumb, Osteoarthritis, Brachydactyly ORPHA:435804
Ehlers-Danlos Syndrome, Hypermobility Type
Joint laxity, Osteoarthritis, Joint dislocation, Joint hypermobility OMIM:130020
Orofacial Cleft 11
Cleft lip, Cleft palate OMIM:600625
Diastrophic Dysplasia
Proximal placement of thumb, Micromelia, Micrognathia, Symphalangism affecting the phalanges of t... ORPHA:628
Talo-Patello-Scaphoid Osteolysis
Osteolysis of talus, Enlarged joints, Osteolysis of scaphoids, Synovitis, Short 4th metacarpal, O... ORPHA:50809
Achondrogenesis Type 2
Delayed vertebral ossification, Absent vertebral body mineralization, Micromelia, Hypoplastic ili... ORPHA:93296
Glycoprotein Storage Disease
Gout OMIM:232900
Osteoarthritis With Mild Chondrodysplasia
Hip osteoarthritis, Knee osteoarthritis, Heberden's node, Joint stiffness OMIM:604864
Dysplasia Epiphysealis Hemimelica
Abnormal femoral neck morphology, Tarsal synostosis, Recurrent fractures, Accelerated skeletal ma... ORPHA:1822
Camptodactyly-Arthropathy-Coxa Vara-Pericarditis Syndrome
Arthropathy, Flattened metatarsal heads, Generalized morning stiffness, Coxa vara, Arthritis, Con... OMIM:208250
Dysspondyloenchondromatosis
Joint dislocation, Enlarged joints, Delayed skeletal maturation, Osteoarthritis, Generalized join... ORPHA:85198
Cranio-Osteoarthropathy
Abnormality of the knee, Eczema, Joint stiffness, Osteoarthritis, Abnormal tibia morphology, Club... ORPHA:1525
Hip Dysplasia, Beukes Type
Abnormality of the epiphysis of the femoral head, Abnormal ossification involving the femoral hea... ORPHA:2114
Raine Syndrome
Mandibular prognathia, Micromelia, Micrognathia, Brachycephaly, Protruding ear, High palate, Choa... OMIM:259775
Craniosynostosis, Herrmann-Opitz Type
Finger syndactyly, Turricephaly, Micromelia, Craniosynostosis, Micrognathia, Split hand, Abnormal... ORPHA:2145
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type
Micromelia, Delayed epiphyseal ossification, Deep philtrum, Tachypnea, Death in childhood, Death ... OMIM:613320
Multiple Epiphyseal Dysplasia Due To Collagen 9 Anomaly
Abnormality of the knee, Abnormality of the epiphyses of the elbow, Abnormal patella morphology, ... ORPHA:166002
Chondrodysplasia Punctata, Tibia-Metacarpal Type
Midface retrusion, Micromelia, Malar flattening, Depressed nasal ridge, Epiphyseal stippling, Sho... OMIM:118651
Metatropic Dysplasia
Low-set, posteriorly rotated ears, Depressed nasal bridge, Camptodactyly of finger, Micromelia, A... ORPHA:2635
Epiphyseal Dysplasia, Multiple, 3
Abnormal hip joint morphology, Short metacarpal, Knee pain, Delayed epiphyseal ossification, Oste... OMIM:600969
Vitreoretinopathy With Phalangeal Epiphyseal Dysplasia
Hip osteoarthritis, Abnormal epiphysis morphology of the phalanges of the hand, Brachydactyly OMIM:619248
Talo-Patello-Scaphoid Osteolysis, Synovitis, And Short Fourth Metacarpals
Osteolysis of talus, Osteolysis of scaphoids, Synovitis, Short 4th metacarpal, Osteolysis of pate... OMIM:609655
Angel-Shaped Phalango-Epiphyseal Dysplasia
Delayed skeletal maturation, Short 1st metacarpal, Joint hyperflexibility, Short middle phalanx o... ORPHA:63442
Lethal Recessive Chondrodysplasia
Respiratory distress, Micromelia, Micrognathia, Generalized osteosclerosis, Macroglossia, Short l... ORPHA:1423
Achondrogenesis, Type Ia
Abnormal femoral metaphysis morphology, Micromelia, Bowing of the legs, Beaded ribs, Abnormal han... OMIM:200600
Marshall-Smith Syndrome
Bowing of the long bones, Anteverted nares, Choanal atresia, Craniosynostosis, Protruding tongue,... ORPHA:561
Syngnathia
Cleft palate OMIM:119550
Odontochondrodysplasia
Delayed eruption of teeth, Death in infancy, Bowing of the long bones, Frontal bossing, Depressed... ORPHA:166272
Acrodysostosis
Mandibular prognathia, Micromelia, Hypoplasia of the maxilla, Short metatarsal, Depressed nasal r... ORPHA:950
Epiphyseal Dysplasia, Multiple, 1
Short metacarpal, Joint stiffness, Avascular necrosis of the capital femoral epiphysis, Delayed e... OMIM:132400
Pseudoachondroplasia
Limited hip extension, Distal joint laxity, Generalized joint laxity, Delayed epiphyseal ossifica... ORPHA:750
Epiphyseal Dysplasia, Multiple, 6
Abnormality of the knee, Flat distal femoral epiphysis, Flat capital femoral epiphysis, Osteoarth... OMIM:614135
Autosomal Recessive Omodysplasia
Abnormal morphology of the radius, Frontal bossing, Posteriorly rotated ears, Rhizomelia, Microme... ORPHA:93329
Poirier-Bienvenu Neurodevelopmental Syndrome
Downturned corners of mouth, Open mouth, Smooth philtrum, Protruding tongue OMIM:618732
Progressive Osseous Heteroplasia
Osteoarthritis, Limitation of joint mobility, Bone pain, Ectopic ossification in muscle tissue, B... ORPHA:2762
Ankylosing Vertebral Hyperostosis With Tylosis
Osteoarthritis ORPHA:2206
Hypochondroplasia
Bowing of the long bones, Brachydactyly, Micromelia, Short toe, Osteoarthritis, Abnormality of th... ORPHA:429
Short Stature And Advanced Bone Age, With Or Without Early-Onset Osteoarthritis And/Or Osteochondritis Dissecans
Broad hallux, Accelerated skeletal maturation, Short thumb, Premature osteoarthritis, Hip osteoar... OMIM:165800
Pierre Robin Sequence With Facial And Digital Anomalies
Tapered finger, Pierre-Robin sequence, Cleft palate, Glossoptosis, Easily subluxated first metaca... OMIM:311895
Epiphyseal Dysplasia, Multiple, 5
Short metacarpal, Premature osteoarthritis, Coxa vara, Genu valgum, Delayed ossification of carpa... OMIM:607078
Greenberg Dysplasia
Abnormally ossified vertebrae, Rhizomelia, Micromelia, Micrognathia, Calvarial skull defect, Abno... ORPHA:1426
Odontochondrodysplasia 1
Respiratory distress, Micromelia, Metaphyseal widening, Short phalanx of finger, Genu varum, Deat... OMIM:184260
Congenital Disorder Of Glycosylation, Type Iia
Osteopenia, Mandibular prognathia, Proximal placement of thumb, Brachycephaly, Diastema, Gingival... OMIM:212066
Spondyloepiphyseal Dysplasia, Kimberley Type
Osteoarthritis, Micromelia ORPHA:93283
Multiple Epiphyseal Dysplasia Type 5
Abnormal hip joint morphology, Osteoarthritis of the small joints of the hand, Decreased hip abdu... ORPHA:93311
Heart-Hand Syndrome Type 2
Aplasia/Hypoplasia of the thumb, Abnormal morphology of ulna, Micromelia, Abnormality of the dent... ORPHA:1350
Platyspondylic Lethal Skeletal Dysplasia, Torrance Type
Respiratory distress, Micromelia, Severe limb shortening, Radial bowing, Rhizomelia, Depressed na... OMIM:151210
Blomstrand Lethal Chondrodysplasia
Micrognathia, Distal shortening of limbs, Short metacarpal, Increased bone mineral density, Rhizo... ORPHA:50945
Spondyloepimetaphyseal Dysplasia, Handigodu Type
Hip contracture, Abnormality of the knee, Broad radial metaphysis, Protrusio acetabuli, Broad fem... ORPHA:99642
Chondrodysplasia, Blomstrand Type
Depressed nasal bridge, Micromelia, Micrognathia, Generalized osteosclerosis, Squared iliac bones... OMIM:215045
Ollier Disease
Micromelia, Joint stiffness, Abnormal cartilage morphology, Osteolysis, Multiple enchondromatosis... ORPHA:296
Familial Digital Arthropathy-Brachydactyly
Osteoarthritis of the small joints of the hand, Brachydactyly, Shortening of all distal phalanges... ORPHA:85169
Autosomal Dominant Myopia-Midfacial Retrusion-Sensorineural Hearing Loss-Rhizomelic Dysplasia Syndrome
Frontal bossing, Hypoplastic scapulae, Short femur, Rhizomelia, Dumbbell-shaped long bone, Microm... ORPHA:440354
Beta-Mercaptolactate Cysteine Disulfiduria
Low-set, posteriorly rotated ears, Frontal bossing, Sandal gap, Arachnodactyly, Micromelia, Antev... ORPHA:1035
Achondrogenesis Type 1A
Short palm, Frontal bossing, Multiple rib fractures, Anteverted nares, Recurrent fractures, Micro... ORPHA:93299
Ulnar Hemimelia
Limited elbow movement, Osteoarthritis, Abnormal calcification of the carpal bones, Limited elbow... ORPHA:93320
Paget Disease Of Bone 6
Osteoarthritis, Bone pain, Recurrent fractures OMIM:616833
Achondrogenesis Type 1B
Frontal bossing, Anteverted nares, Micromelia, Abnormal enchondral ossification, Micrognathia, Ab... ORPHA:93298
Pierre Robin Syndrome
Glossoptosis, Pierre-Robin sequence, Cleft palate OMIM:261800
Mesomelia-Synostoses Syndrome
Micromelia, Micrognathia, High, narrow palate, Abnormal tibia morphology, Abnormal femur morpholo... ORPHA:2496
17Q21.31 Microduplication Syndrome
Toe syndactyly, Sandal gap, Anteverted nares, Abnormality of the dentition, Micrognathia, High pa... ORPHA:217340
Ehlers-Danlos Syndrome, Arthrochalasia Type, 1
Osteopenia, Joint laxity, Hallux valgus, Contracture of the proximal interphalangeal joint of the... OMIM:130060
Complement Component C1R/C1S Deficiency
Discoid lupus rash, Arthritis, Nephritis OMIM:216950
Congenital Arthrogryposis With Anterior Horn Cell Disease
Abnormal anterior horn cell morphology, Rocker bottom foot, Micrognathia, Paucity of anterior hor... OMIM:611890
Spondyloepimetaphyseal Dysplasia, Irapa Type
Short metacarpal, Micromelia, Osteoarthritis, Limitation of joint mobility, Abnormal carpal morph... ORPHA:93351
Metatropic Dysplasia
Abnormal metaphyseal vascular invasion, Flexion contracture, Long coccyx, Narrow greater sciatic ... OMIM:156530
Metaphyseal Acroscyphodysplasia
Frontal bossing, Brachydactyly, Cone-shaped metacarpal epiphyses, Bowing of the long bones, Micro... ORPHA:1240
Kleefstra Syndrome 1
Mandibular prognathia, Natal tooth, Abnormal pinna morphology, Anteverted nares, Hearing impairme... OMIM:610253
3M Syndrome
Congenital hip dislocation, Micromelia, Protruding ear, Clinodactyly of the 5th finger, Long phil... ORPHA:2616
Bone Dysplasia, Lethal Holmgren Type
Metaphyseal dysplasia, Frontal bossing, Rhizomelia, Anteverted nares, Micromelia, Abnormal thumb ... ORPHA:1842
Dyssegmental Dysplasia, Silverman-Handmaker Type
Micromelia, Bowing of the legs, Micrognathia, Flexion contracture, Wide nasal bridge, Respiratory... ORPHA:1865
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly
Respiratory distress, Syndactyly, Depressed nasal bridge, Postaxial polydactyly, Micromelia, Hypo... OMIM:617895
Developmental And Epileptic Encephalopathy 80
Death in infancy, Optic disc pallor, Tented upper lip vermilion, Posteriorly rotated ears, Abnorm... OMIM:618580
Distal Deletion 17Q
Low-set, posteriorly rotated ears, Aplasia/Hypoplasia of the thumb, Abnormality of the philtrum, ... ORPHA:1597
Metachondromatosis
Abnormal joint morphology, Bowing of the long bones, Multiple enchondromatosis OMIM:156250
Dysostosis, Stanescu Type
Narrow nasal bridge, Bowing of the long bones, Increased bone mineral density, Abnormal dental en... ORPHA:1798
Apert Syndrome
Mandibular prognathia, Aplasia/Hypoplasia of the thumb, Micromelia, Hypoplasia of the maxilla, Co... ORPHA:87
Multiple Epiphyseal Dysplasia, Beighton Type
Abnormal hip joint morphology, Abnormality of tibial epiphyses, Abnormal acetabulum morphology, A... ORPHA:166011
Acrocallosal Syndrome
Mandibular prognathia, Downturned corners of mouth, High palate, Short philtrum, Clinodactyly of ... OMIM:200990
Neurodevelopmental Disorder With Variable Motor And Language Impairment
Mandibular prognathia, Posteriorly rotated ears, Joint hypermobility, Depressed nasal bridge, Tap... OMIM:617804
Down Syndrome
Depressed nasal ridge, Brachycephaly, Downturned corners of mouth, Conductive hearing impairment,... ORPHA:870
Coxoauricular Syndrome
Micromelia, Hip dislocation, Abnormal femur morphology, Reduced bone mineral density, Abnormal pe... ORPHA:1508
Kyphomelic Dysplasia
Bowing of the long bones, Anterior rib cupping, Micromelia, Joint stiffness, Missing ribs, Microg... ORPHA:1801
Pierre Robin Syndrome And Oligodactyly
Pierre-Robin sequence, Hand oligodactyly, Cleft palate OMIM:172880
Spondylosis, Cervical
Osteoarthritis OMIM:184300
Diastrophic Dysplasia
Hip contracture, Costal cartilage calcification, Laryngotracheal stenosis, Flattened epiphysis, G... OMIM:222600
Lethal Osteosclerotic Bone Dysplasia
Respiratory distress, Posteriorly rotated ears, Anteverted nares, Micrognathia, Dyspnea, Depresse... ORPHA:1832
Spondyloepimetaphyseal Dysplasia, Irapa Type
Metaphyseal dysplasia, Short metacarpal, Capitate-hamate fusion, Osteoarthritis, Short metatarsal... OMIM:271650
Isolated Pierre Robin Syndrome
Glossoptosis, Cleft palate ORPHA:718
Growth Retardation, Developmental Delay, And Facial Dysmorphism
Anteverted nares, Protruding tongue, Sensorineural hearing impairment, Alveolar ridge overgrowth,... OMIM:612938
Atelosteogenesis Type Ii
Micromelia, Micrognathia, Tracheobronchomalacia, Short phalanx of finger, Broad metacarpals, Hypo... ORPHA:56304
Thanatophoric Dysplasia
Frontal bossing, Cloverleaf skull, Depressed nasal bridge, Hearing impairment, Micromelia, Joint ... ORPHA:2655
Langer Mesomelic Dysplasia
Bowing of the long bones, Abnormal morphology of ulna, Micromelia, Aplasia/Hypoplasia of the fibu... ORPHA:2632
Spondylometaepiphyseal Dysplasia, Short Limb-Hand Type
Micromelia, Bowing of the legs, Micrognathia, Depressed nasal ridge, Triangular shaped distal pha... OMIM:271665
Cleidocranial Dysplasia
Mandibular prognathia, Sinusitis, Micrognathia, High, narrow palate, Brachycephaly, Coxa vara, Gl... ORPHA:1452
Greenberg Dysplasia
Micromelia, Micrognathia, Multiple prenatal fractures, Hypoplasia of the maxilla, Patchy variatio... OMIM:215140
Glutamine Deficiency, Congenital
Neonatal respiratory distress, Anteverted nares, Depressed nasal bridge, Micromelia, Apnea, Flexi... OMIM:610015
Fibrochondrogenesis
Hypoplastic scapulae, Anteverted nares, Camptodactyly of finger, Micromelia, Depressed nasal brid... ORPHA:2021
Progressive Pseudorheumatoid Dysplasia
Arthropathy, Enlarged interphalangeal joints, Camptodactyly of finger, Joint stiffness, Enlarged ... OMIM:208230
Ophthalmomandibulomelic Dysplasia
Obtuse angle of mandible, Camptodactyly of finger, Micromelia, Limitation of joint mobility, Temp... ORPHA:2741
Cenani-Lenz Syndrome
Micromelia, High, narrow palate, Protruding ear, Foot oligodactyly, Short philtrum, Synostosis of... ORPHA:3258
Pallister-Hall-Like Syndrome
Death in infancy, Toe syndactyly, Median cleft lip, Depressed nasal bridge, Micromelia, Micrognat... OMIM:241800
Dyssegmental Dysplasia, Silverman-Handmaker Type
Bowing of the long bones, Posteriorly rotated ears, Micromelia, Micrognathia, Wide nasal bridge, ... OMIM:224410
Schwartz-Jampel Syndrome, Type 1
Congenital hip dislocation, Micromelia, Bowing of the legs, Micrognathia, Metaphyseal widening, D... OMIM:255800
Larsen-Like Osseous Dysplasia-Short Stature Syndrome
Low-set, posteriorly rotated ears, Narrow mouth, Reduced bone mineral density, Abnormal pelvic gi... ORPHA:2370
Image Syndrome
Metaphyseal dysplasia, Frontal bossing, Depressed nasal bridge, Micromelia, Low-set ears ORPHA:85173
Cooper-Jabs Syndrome
Low-set, posteriorly rotated ears, Frontal bossing, Anteverted nares, Camptodactyly of finger, Pr... ORPHA:1488
Polyneuropathy-Intellectual Disability-Acromicria-Premature Menopause Syndrome
Camptodactyly of finger, Micromelia, Decreased nerve conduction velocity, Furrowed tongue, Ulnar ... ORPHA:2928
Clark-Baraitser Syndrome
Thin upper lip vermilion, Sandal gap, Exaggerated cupid's bow, Anteverted nares, Depressed nasal ... OMIM:617752
Peroxisome Biogenesis Disorder 1A (Zellweger)
Flat occiput, Micrognathia, High, narrow palate, High palate, Death in childhood, Ulnar deviation... OMIM:214100
Thanatophoric Dysplasia, Type Ii
Frontal bossing, Cloverleaf skull, Small abnormally formed scapulae, Micromelia, Hypoplastic ilia... OMIM:187601
Cartilage-Hair Hypoplasia
Micromelia, Metaphyseal chondrodysplasia, Depressed nasal ridge, Brachycephaly, Tibial bowing, Sh... ORPHA:175
Chondrodysplasia With Joint Dislocations, Gpapp Type
Short metacarpal, Hearing impairment, Micrognathia, Capitate-hamate fusion, Short toe, Limited el... OMIM:614078
Spondyloepiphyseal Dysplasia-Craniosynostosis-Cleft Palate-Cataracts-Intellectual Disability Syndrome
Micrognathia, Brachycephaly, Downturned corners of mouth, High palate, Abnormal bone ossification... ORPHA:163649
Spondyloepiphyseal Dysplasia, Nishimura Type
Delayed epiphyseal ossification, Osteoarthritis, Small hand, Brachydactyly OMIM:618618
Achondrogenesis, Type Ib
Micromelia, Hypoplastic ilia, Respiratory insufficiency, Stillbirth, Short ribs, Absent or minima... OMIM:600972
Grant Syndrome
Frontal bossing, Bowing of the long bones, Depressed nasal bridge, Micrognathia, Open bite, Abnor... ORPHA:2097
Astley-Kendall Dysplasia
Epiphyseal stippling, Micromelia ORPHA:85175
Cardiomyopathy-Cataract-Hip Spine Disease Syndrome
Osteoarthritis, Avascular necrosis, Joint stiffness ORPHA:1345
C Syndrome
Micromelia, Micrognathia, Clinodactyly, High palate, Dislocated radial head, Short metacarpal, An... OMIM:211750
2Q32Q33 Microdeletion Syndrome
Broad hallux phalanx, Arachnodactyly, Dental crowding, Anteverted nares, Micrognathia, Prominent ... ORPHA:251019
Ring Chromosome 22 Syndrome
Protruding tongue, Bulbous nose, 2-3 toe syndactyly, Pleural effusion, Large hands, Thick vermili... ORPHA:1446
Epiphyseal Dysplasia, Multiple, 2
Tibial torsion, Knee osteoarthritis, Flattened knee epiphyses, Short palm, Knee pain, Foot pain, ... OMIM:600204
Boomerang Dysplasia
Finger syndactyly, Abnormal morphology of the radius, Abnormally ossified vertebrae, Abnormal mor... ORPHA:1263
Pierpont Syndrome
Brachycephaly, Large fleshy ears, Widely spaced teeth, Short palm, Prominent fingertip pads, Shor... OMIM:602342
Congenital Atransferrinemia
Arthritis ORPHA:1195
Congenital Pseudoarthrosis Of The Clavicle
Osteoarthritis ORPHA:66630
Albers-Schönberg Osteopetrosis
Joint dislocation, Osteomyelitis, Recurrent fractures, Mandibular osteomyelitis, Generalized oste... ORPHA:53
Mucopolysaccharidosis, Type Ix
Acetabular erosions, Periarticular soft-tissue mass, Synovitis, Hyperextensibility at wrists, Rec... OMIM:601492
Microcephaly-Micromelia Syndrome
Wide nose, Micromelia, Absent thumb, Absent radius, Craniosynostosis, Micrognathia, Humeroradial ... OMIM:251230
Non-Distal Duplication 10Q
Low-set, posteriorly rotated ears, Frontal bossing, Depressed nasal bridge, Micrognathia, Brachyc... ORPHA:1695
X-Linked Intellectual Disability-Cardiomegaly-Congestive Heart Failure Syndrome
Mandibular prognathia, Depressed nasal bridge, Prominent nasal bridge, Protruding tongue, Abnorma... ORPHA:324410
Dyssegmental Dysplasia, Rolland-Desbuquois Type
Bowing of the long bones, Broad long bones, Micromelia, Micrognathia, Metaphyseal widening, Limit... OMIM:224400
Catel-Manzke Syndrome
Low-set, posteriorly rotated ears, Camptodactyly of finger, Metatarsus valgus, Joint stiffness, M... ORPHA:1388
Eiken Syndrome
Epiphyseal dysplasia, Abnormal trabecular bone morphology, Abnormal acetabulum morphology, Thin b... ORPHA:79106
Pierpont Syndrome
Joint laxity, Thin upper lip vermilion, Posteriorly rotated ears, Wide nasal ridge, Uplifted earl... ORPHA:487825
Acrofrontofacionasal Dysostosis
Camptodactyly of finger, Micromelia, Broad nasal tip, Non-midline cleft lip, Brachycephaly, Cleft... ORPHA:1784
Osteopathia Striata-Cranial Sclerosis Syndrome
Flat occiput, Micrognathia, High, narrow palate, Brachycephaly, Conductive hearing impairment, La... ORPHA:2780
Platyspondylic Dysplasia, Torrance Type
Bowing of the long bones, Hypoplastic scapulae, Depressed nasal bridge, Micromelia, Abnormal carp... ORPHA:85166
Craniofrontonasal Dysplasia
Depressed nasal ridge, Brachycephaly, Orofacial cleft, High palate, Clinodactyly of the 5th finge... ORPHA:1520
Hyperphosphatasia With Impaired Intellectual Development Syndrome 6
Osteopenia, Knee flexion contracture, High palate, Death in childhood, Clinodactyly of the 5th fi... OMIM:616809
Muenke Syndrome
Broad hallux, Hearing impairment, Capitate-hamate fusion, Sensorineural hearing impairment, Denta... OMIM:602849
Jeune Syndrome
Toe syndactyly, Micromelia, Postaxial hand polydactyly, Abnormal rib morphology, Respiratory insu... ORPHA:474
Achondrogenesis
Frontal bossing, Anteverted nares, Micromelia, Abnormal enchondral ossification, Micrognathia, Ab... ORPHA:932
Craniosynostosis-Hydrocephalus-Arnold-Chiari Malformation Type I-Radioulnar Synostosis Syndrome
Bowing of the long bones, Toe syndactyly, Anteverted nares, Depressed nasal bridge, Craniosynosto... ORPHA:171839
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type
Osteopenia, Micrognathia, Multiple prenatal fractures, Beaded ribs, Flexion contracture, Brachyce... OMIM:616897
Spondyloepiphyseal Dysplasia Tarda
Osteoarthritis of the distal interphalangeal joint, Abnormality of the tibial plateaux, Limited e... ORPHA:93284
Robin Sequence-Oligodactyly Syndrome
Abnormal morphology of ulna, Abnormality of the dentition, Hand oligodactyly, Cleft palate, Gloss... ORPHA:3104
Eng-Strom Syndrome
Arthritis, Camptodactyly of finger, Brachydactyly ORPHA:1937
Skeletal Dysplasia, Mild, With Joint Laxity And Advanced Bone Age
Joint laxity, Microretrognathia, Midface retrusion, Frontal bossing, Anteverted nares, Monkey wre... OMIM:618870
Léri-Weill Dyschondrosteosis
Micromelia, Abnormal tibia morphology, Abnormal carpal morphology, Abnormal femur morphology, Tib... ORPHA:240
Intellectual Developmental Disorder With Speech Delay, Autism, And Dysmorphic Facies
Mandibular prognathia, Anteverted nares, Tapered finger, Conductive hearing impairment, Sensorine... OMIM:618672
Osteogenesis Imperfecta, Type Xii
Delayed eruption of teeth, Hyperextensibility of the finger joints, Midface retrusion, Depressed ... OMIM:613849
4Q21 Microdeletion Syndrome
Frontal bossing, Toe syndactyly, Depressed nasal bridge, Micromelia, Abnormality of the dentition... ORPHA:238750
Acromicric Dysplasia
Short metacarpal, Anteverted nares, Joint stiffness, Decreased nerve conduction velocity, Narrow ... ORPHA:969
Osteogenesis Imperfecta, Type X
Osteopenia, Respiratory distress, Micromelia, Micrognathia, Generalized joint laxity, Tibial bowi... OMIM:613848
Ruvalcaba Syndrome
Short metacarpal, Dental crowding, Micromelia, Underdeveloped nasal alae, Limited elbow extension... OMIM:180870
Spondyloepimetaphyseal Dysplasia, Borochowitz-Cormier-Daire Type
Dysplastic iliac wing, Metaphyseal spurs, Micromelia, Bowing of the legs, Metaphyseal widening, S... OMIM:608728
Intellectual Developmental Disorder, Autosomal Dominant 58
Dental crowding, Posteriorly rotated ears, Protruding tongue, Broad nasal tip, Submucous cleft ha... OMIM:618106
Adenylosuccinate Lyase Deficiency
Thin upper lip vermilion, Flat occiput, Anteverted nares, Brachycephaly, Low-set ears, Long philt... ORPHA:46
Spondyloepimetaphyseal Dysplasia, Missouri Type
Radial bowing, Rhizomelia, Delayed skeletal maturation, Osteoarthritis, Ulnar bowing, Flared meta... OMIM:602111
Kniest Dysplasia
Respiratory distress, Delayed epiphyseal ossification, Coxa vara, Tibial bowing, Abnormal cartila... OMIM:156550
Fibrodysplasia Ossificans Progressiva
Hallux valgus, Small cervical vertebral bodies, Progressive cervical vertebral spine fusion, Ecto... OMIM:135100
Neuropathy, Congenital Hypomyelinating, 3
Decreased motor nerve conduction velocity, Limb joint contracture, Micrognathia, Dolichocephaly, ... OMIM:618186
Microbrachycephaly-Ptosis-Cleft Lip Syndrome
Mandibular prognathia, Narrow nasal bridge, Brachydactyly, Flat occiput, Abnormal thumb morpholog... ORPHA:2511
Ring Chromosome 8 Syndrome
Frontal bossing, Anteverted nares, Deviation of finger, Round ear, Short nose, Abnormal palate mo... ORPHA:1450
Imperforate Oropharynx-Costovertebral Anomalies Syndrome
Respiratory distress, Abnormality of the philtrum, Arachnodactyly, Aplasia/Hypoplasia of the tong... ORPHA:2759
Rheumatoid Factor-Positive Polyarticular Juvenile Idiopathic Arthritis
Osteopenia, Symmetric polyarthritis, Limitation of joint mobility, Abnormal limb bone morphology,... ORPHA:85435
Cataract-Intellectual Disability-Hypogonadism Syndrome
Low-set, posteriorly rotated ears, Abnormal distal phalanx morphology of finger, Depressed nasal ... ORPHA:1387
Melkersson-Rosenthal Syndrome
Furrowed tongue OMIM:155900
Fibular Aplasia-Complex Brachydactyly Syndrome
Narrow nasal bridge, Abnormal morphology of the radius, Brachydactyly, Tarsal synostosis, Abnorma... ORPHA:2639
Thanatophoric Dysplasia Type 2
Frontal bossing, Brachydactyly, Cloverleaf skull, Depressed nasal bridge, Micromelia, Limitation ... ORPHA:93274
Neurodevelopmental Disorder With Hypotonia, Neonatal Respiratory Insufficiency, And Thermodysregulation
Neonatal respiratory distress, Flat occiput, Anteverted nares, Depressed nasal bridge, Protruding... OMIM:618797
Cornelia De Lange Syndrome 5
Toe syndactyly, Anteverted nares, Depressed nasal bridge, Proximal placement of thumb, Micrognath... OMIM:300882
Chromosome 3Pter-P25 Deletion Syndrome
Flat occiput, Micrognathia, Brachycephaly, Downturned corners of mouth, High palate, Anteverted n... OMIM:613792
Spondylometaphyseal Dysplasia, X-Linked
Hip contracture, Hyperextensibility of the finger joints, Anteverted nares, Depressed nasal bridg... OMIM:313420
Osteopetrosis, Autosomal Dominant 2
Recurrent fractures, Mandibular osteomyelitis, Fractures of the long bones, Generalized osteoscle... OMIM:166600
Palatopharyngeal Incompetence
Velopharyngeal insufficiency, Cleft palate OMIM:167500
Intellectual Developmental Disorder, Autosomal Dominant 23
Thin upper lip vermilion, Sandal gap, Dental crowding, Postaxial polydactyly, Micrognathia, Antev... OMIM:615761
Osteosclerosis-Developmental Delay-Craniosynostosis Syndrome
Broad jaw, Increased bone mineral density, Facial palsy, Craniosynostosis, Optic atrophy, Brachyc... ORPHA:178377
Hypophosphatasia, Infantile
Death in infancy, Apnea, Micromelia, Abnormality of the dentition, Bowing of the legs, Craniosyno... OMIM:241500
Antley-Bixler Syndrome
Low-set, posteriorly rotated ears, Frontal bossing, Turricephaly, Arachnodactyly, Camptodactyly o... ORPHA:83
Orofacial Cleft 5
Cleft palate, Cleft upper lip OMIM:608874
Orofacial Cleft 6, Susceptibility To
Cleft palate, Cleft upper lip OMIM:608864
Orofacial Cleft 1
Cleft palate, Cleft upper lip OMIM:119530
Thanatophoric Dysplasia Type 1
Frontal bossing, Bowing of the long bones, Short femur, Depressed nasal bridge, Cloverleaf skull,... ORPHA:1860
Vertical Talus, Congenital
Arthritis, Calcaneovalgus deformity, Rocker bottom foot, Equinus calcaneus OMIM:192950
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked
Mandibular prognathia, Absent frontal sinuses, Widely-spaced maxillary central incisors, Antevert... OMIM:301040
Non-Syndromic Bicoronal Craniosynostosis
Brachydactyly, Brachycephaly, Metacarpal synostosis, Midface retrusion, Hearing impairment ORPHA:35099
Congenital Myopathy 10A, Severe Variant
Respiratory distress, Camptodactyly of finger, Facial palsy, Abnormal motor nerve conduction velo... OMIM:614399
Orofacial Cleft 10
Unilateral cleft palate, Unilateral cleft lip OMIM:613705
Gillessen-Kaesbach-Nishimura Syndrome
Ulnar deviation of the hand, Posteriorly rotated ears, Micrognathia, Underdeveloped nasal alae, W... OMIM:263210
Spondyloepimetaphyseal Dysplasia, Missouri Type
Knee osteoarthritis, Flared metaphysis, Tibial bowing, Femoral bowing, Short lower limbs, Metaphy... ORPHA:93356
Metaphyseal Anadysplasia 2
Micromelia, Bowing of the legs, Metaphyseal widening, Short femoral neck, Metaphyseal irregularit... OMIM:613073
Spondylometaphyseal Dysplasia, A4 Type
Micromelia, Limitation of joint mobility, Coxa vara, Flared, irregular rib ends, Short palm ORPHA:168555
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1
Sinusitis, Anteverted nares, Depressed nasal bridge, Pneumonia, Malabsorption, Micrognathia, Prot... OMIM:242860
Saethre-Chotzen Syndrome
Hypoplasia of the maxilla, Brachycephaly, Triphalangeal thumb, Conductive hearing impairment, Cli... ORPHA:794
Gorham-Stout Disease
Osteopenia, Abnormality of the temporomandibular joint, Abnormal occipital bone morphology, Osteo... ORPHA:73
Pde4D Haploinsufficiency Syndrome
Mandibular prognathia, Micrognathia, Hypoplasia of the maxilla, Prominent nose, Short metatarsal,... ORPHA:439822
Intellectual Developmental Disorder, Autosomal Dominant 26
Prominent nasal tip, Anteverted nares, Depressed nasal bridge, Micrognathia, Deep philtrum, Wide ... OMIM:615834
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia
11 pairs of ribs, Frontal bossing, Rhizomelia, Metaphyseal cupping of proximal phalanges, Depress... OMIM:300863
Camptodactyly Syndrome, Guadalajara Type 1
Attached earlobe, Mandibular prognathia, Brachycephaly, Downturned corners of mouth, High palate,... ORPHA:1327
Acrocephalopolydactyly
Oxycephaly, Depressed nasal ridge, Short long bone, Microtia, Limb undergrowth, Short nose, Brach... ORPHA:221054
Autosomal Dominant Otospondylomegaepiphyseal Dysplasia
Osteoarthritis, Abnormal metacarpal morphology ORPHA:166100
Ankyloblepharon Filiforme Adnatum-Imperforate Anus Syndrome
Tooth agenesis, Non-midline cleft lip, Cleft palate ORPHA:1074
Congenital Disorder Of Glycosylation, Type Iie
Death in infancy, Wide nose, Protruding tongue, Micrognathia, Neonatal asphyxia, Sensorineural he... OMIM:608779
Pontocerebellar Hypoplasia, Type 1C
Respiratory insufficiency, Respiratory failure, Tongue fasciculations, Death in childhood, Joint ... OMIM:616081
9q subtelomeric deletion syndrome
Protruding tongue DECIPHER:52
Pseudoachondroplasia
Limited hip extension, Genu recurvatum, Delayed epiphyseal ossification, Osteoarthritis, Metaphys... OMIM:177170
Pyknoachondrogenesis
Craniofacial hyperostosis, Abnormal intramembranous ossification, Micromelia, Short iliac bones, ... ORPHA:3003
Microcephalic Osteodysplastic Primordial Dwarfism Types I And Iii
Osteopenia, Micromelia, Micrognathia, Prominent nose, Long nose, Abnormal finger morphology, Shor... ORPHA:2636
Mesomelic Dysplasia, Nievergelt Type
Finger syndactyly, Abnormal morphology of ulna, Tarsal synostosis, Camptodactyly of finger, Micro... ORPHA:2633
Dracunculiasis
Recurrent cutaneous abscess formation, Skin rash, Flexion contracture, Limitation of joint mobili... ORPHA:231
Rheumatoid Factor-Negative Polyarticular Juvenile Idiopathic Arthritis
Abnormal metacarpophalangeal joint morphology, Ankle swelling, Abnormal metatarsal morphology, Jo... ORPHA:85408
Aminopterin Syndrome Sine Aminopterin
Syndactyly, Frontal bossing, Rudimentary postaxial polydactyly of hands, Arachnodactyly, Posterio... OMIM:600325
Agenesis Of The Corpus Callosum With Peripheral Neuropathy
Decreased motor nerve conduction velocity, Decreased sensory nerve conduction velocity, Tapered f... OMIM:218000
Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly
Syndactyly, Bowing of the long bones, Hypoplastic scapulae, Short lingual frenulum, Postaxial pol... OMIM:614091
Spondyloepiphyseal Dysplasia With Atlantoaxial Instability
Joint laxity, Respiratory failure, Tongue fasciculations, Hypoplasia of the capital femoral epiph... OMIM:600561
Hemophilia A
Osteoarthritis, Joint hemorrhage OMIM:306700
14Q11.2 Microdeletion Syndrome
Low-set, posteriorly rotated ears, Toe syndactyly, Exaggerated cupid's bow, Depressed nasal bridg... ORPHA:261120
Intellectual Developmental Disorder, X-Linked 91
Macrodontia, Small hand, Short foot, Short 5th finger, High palate, Clinodactyly, Short nose OMIM:300577
Otospondylomegaepiphyseal Dysplasia, Autosomal Dominant
Epiphyseal dysplasia, Enlarged epiphyses, Anteverted nares, Depressed nasal bridge, Sensorineural... OMIM:184840
Acrocapitofemoral Dysplasia
Cone-shaped metacarpal epiphyses, Abnormal femoral neck morphology, Micromelia, Coxa vara, Cone-s... ORPHA:63446
Desmosterolosis
Low-set, posteriorly rotated ears, Frontal bossing, Increased bone mineral density, Depressed nas... ORPHA:35107
Crouzon Syndrome-Acanthosis Nigricans Syndrome
Frontal bossing, Turricephaly, Choanal atresia, Hypoplasia of the maxilla, Optic atrophy, Brachyc... ORPHA:93262
Kyphomelic Dysplasia
Micromelia, Micrognathia, Tibial bowing, Femoral bowing, Short metacarpal, Radial bowing, Depress... OMIM:211350
Ankyloblepharon Filiforme Adnatum And Cleft Palate
Cleft palate, Cleft upper lip OMIM:106250
Spondylometaphyseal Dysplasia With Corneal Dystrophy
Brachydactyly, Neonatal respiratory distress, Anteverted nares, Depressed nasal bridge, Metaphyse... OMIM:618961
Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 2
Osteopenia, Hip contracture, Thin upper lip vermilion, Frontal bossing, Posteriorly rotated ears,... OMIM:616801
Mesomelic Dwarfism-Cleft Palate-Camptodactyly Syndrome
Low-set, posteriorly rotated ears, Bowing of the long bones, Camptodactyly of finger, Overfolded ... ORPHA:2631
Vitamin D-Dependent Rickets, Type 2A
Delayed eruption of teeth, Frontal bossing, Bulging epiphyses, Thin bony cortex, Flat occiput, Re... OMIM:277440
Ruvalcaba Syndrome
Short metacarpal, Brachydactyly, Dental crowding, Proximal placement of thumb, Micromelia, Small ... ORPHA:3121
Achondrogenesis, Type Ii
Microretrognathia, Absent vertebral body mineralization, Frontal bossing, Broad long bones, Short... OMIM:200610
Microcephalic Osteodysplastic Primordial Dwarfism Type Ii
Micromelia, Prominent nose, Underdeveloped nasal alae, Tracheal stenosis, Sensorineural hearing i... ORPHA:2637
Pfeiffer Syndrome Type 1
Broad hallux phalanx, Aplasia/Hypoplasia of the thumb, Finger syndactyly, Toe syndactyly, Depress... ORPHA:93258
Gm1-Gangliosidosis, Type Ii
Protruding tongue, Coxa valga, Joint stiffness, Optic atrophy, Gingival overgrowth, Hypoplastic v... OMIM:230600
Congenital Osteogenesis Imperfecta-Microcephaly-Cataracts Syndrome
Low-set, posteriorly rotated ears, Recurrent fractures, Micromelia, Abnormal rib morphology, Join... ORPHA:2772
Neurodevelopmental Disorder With Structural Brain Anomalies And Dysmorphic Facies
Anteverted nares, Micrognathia, Short nose, Unilambdoid synostosis, Wide nasal bridge, Brachyceph... OMIM:618577
Hydrolethalus
Low-set, posteriorly rotated ears, Tracheal atresia, Micromelia, Micrognathia, Postaxial hand pol... ORPHA:2189
Desbuquois Dysplasia 1
Joint dislocation, Triangular shaped phalanges of the hand, Osteoarthritis, Metaphyseal widening,... OMIM:251450
Crouzon Syndrome
Frontal bossing, Turricephaly, Choanal atresia, Hypoplasia of the maxilla, Optic atrophy, Brachyc... ORPHA:207
Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency
Mandibular prognathia, Clinodactyly, Brachycephaly, Downturned corners of mouth, High palate, Wid... ORPHA:369891
Otopalatodigital Syndrome Type 1
Proximal placement of thumb, Oligodontia, Short palm, Abnormal vertebral segmentation and fusion,... ORPHA:90650
Potocki-Shaffer Syndrome
2-5 finger cutaneous syndactyly, Turricephaly, Underdeveloped nasal alae, Parietal foramina, Wide... OMIM:601224
Lujan-Fryns Syndrome
Dental crowding, Arachnodactyly, Camptodactyly of finger, Abnormality of the dentition, Micrognat... ORPHA:776
Intellectual Developmental Disorder With Speech Delay And Dysmorphic Facies
Exaggerated cupid's bow, Rocker bottom foot, Posteriorly rotated ears, Anteverted nares, Trigonoc... OMIM:618506
Orofaciodigital Syndrome Type 4
Abnormal oral mucosa morphology, Micromelia, Micrognathia, High, narrow palate, Abnormality of th... ORPHA:2753
Sandestig-Stefanova Syndrome
Rocker bottom foot, Trigonocephaly, Wide nasal bridge, Orofacial cleft, EEG abnormality, Respirat... OMIM:618804
Cleft Palate-Short Stature-Vertebral Anomalies Syndrome
Low-set, posteriorly rotated ears, Thin upper lip vermilion, Anteverted nares, Micrognathia, Clef... ORPHA:2015
Multiple Epiphyseal Dysplasia Type 4
Accelerated skeletal maturation, Abnormal hand morphology, Metaphyseal widening, Flexion contract... ORPHA:93307
Larsen-Like Syndrome
Joint laxity, Frontal bossing, Conductive hearing impairment, Wide anterior fontanel, Dental malo... OMIM:608545
Hyperekplexia 4
Flexion contracture, Hypsarrhythmia, Respiratory failure, Distal arthrogryposis, High palate, Tal... OMIM:618011
Florid Cemento-Osseous Dysplasia
Abnormal trabecular bone morphology, Jaw swelling, Multiple bony cystic lesions, Mandibular osteo... ORPHA:83451
Fibrochondrogenesis 1
Narrow greater sciatic notch, Short palm, Clinodactyly of the 5th finger, Posterior vertebral hyp... OMIM:228520
Chromosome 16P12.2-P11.2 Deletion Syndrome, 7.1- To 8.7-Mb
Thin upper lip vermilion, Frontal bossing, Posteriorly rotated ears, Anteverted nares, Hearing im... OMIM:613604
Acromesomelic Dysplasia, Grebe Type
Aplasia/Hypoplasia of the thumb, Bowing of the long bones, Brachydactyly, Death in infancy, Tarsa... ORPHA:2098
Congenital Laryngomalacia
Non-midline cleft lip, Cleft palate ORPHA:2373
Cornelia De Lange Syndrome 2
Thin upper lip vermilion, Anteverted nares, Prominent nasal bridge, Proximal placement of thumb, ... OMIM:300590
Cornelia De Lange Syndrome 1
Proximal placement of thumb, Micromelia, Micrognathia, High, narrow palate, Brachycephaly, Downtu... OMIM:122470
Potocki-Shaffer Syndrome
Prominent nasal bridge, Broad nasal tip, Micrognathia, Underdeveloped nasal alae, Parietal forami... ORPHA:52022
Hemophilia B
Osteoarthritis, Joint hemorrhage OMIM:306900
Rhizomelic Chondrodysplasia Punctata, Type 1
Frontal bossing, Calcific stippling of infantile cartilaginous skeleton, Rhizomelia, Depressed na... OMIM:215100
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 10
Osteoarthritis, Bronchiectasis, Joint hypermobility OMIM:620080
Robinow Syndrome, Autosomal Dominant 2
Dental crowding, Micrognathia, Oligodontia, Conductive hearing impairment, Calvarial osteoscleros... OMIM:616331
Fetal Akinesia Deformation Sequence 4
11 pairs of ribs, Posteriorly rotated ears, Rocker bottom foot, Micrognathia, Wide nasal bridge, ... OMIM:618393
Ritscher-Schinzel Syndrome 2
Syndactyly, Broad hallux, Overlapping toe, Camptodactyly of finger, Protruding tongue, Intestinal... OMIM:300963
Short-Rib Thoracic Dysplasia 18 With Polydactyly
Thin upper lip vermilion, Radial bowing, Intestinal malrotation, Postaxial polydactyly, Micromeli... OMIM:617866
Acrocapitofemoral Dysplasia
Micromelia, Short proximal phalanx of thumb, Coxa vara, Short palm, Hypoplastic iliac wing, Short... OMIM:607778
Congenital Limbs-Face Contractures-Hypotonia-Developmental Delay Syndrome
Micrognathia, Calcaneovalgus deformity, Flexion contracture, Brachycephaly, High palate, Ulnar de... ORPHA:562528
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 1
Osteopenia, Thin upper lip vermilion, 11 pairs of ribs, Sandal gap, Dental crowding, Posteriorly ... OMIM:617877
Metaphyseal Chondrodysplasia, Jansen Type
Osteopenia, Hip contracture, Bowing of the long bones, Choanal atresia, Micrognathia, Metaphyseal... OMIM:156400
Phocomelia, Schinzel Type
Micromelia, Micrognathia, High, narrow palate, Abnormal tibia morphology, Protruding ear, Foot ol... ORPHA:2879
Campomelia, Cumming Type
Death in infancy, Bowing of the long bones, Abnormally ossified vertebrae, Micromelia, Abnormal r... ORPHA:1318
Ehlers-Danlos Syndrome, Musculocontractural Type, 2
Joint laxity, Frontal bossing, Arachnodactyly, Dental crowding, Narrow mouth, Brachycephaly, Prot... OMIM:615539
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type
Short palm, Death in infancy, Frontal bossing, Rhizomelia, Micrognathia, Metaphyseal chondrodyspl... ORPHA:163966
Vitamin K Antagonist Embryofetopathy
Anteverted nares, Depressed nasal bridge, Hearing impairment, Choanal atresia, Optic atrophy, Res... ORPHA:1914
Even-Plus Syndrome
Epiphyseal dysplasia, Bifid nasal tip, Depressed nasal ridge, Brachycephaly, Microtia, High palat... OMIM:616854
Dermatoosteolysis, Kirghizian Type
Tarsal synostosis, Keratitis, Osteoarthritis, Osteolysis, Abnormal diaphysis morphology, Abnormal... ORPHA:1657
3P25.3 Microdeletion Syndrome
Mandibular prognathia, Proximal placement of thumb, Micrognathia, Prominent nose, High, narrow pa... ORPHA:435638
Spondyloarthropathy, Susceptibility To, 1
Anterior uveitis, Psoriasiform dermatitis, Oligoarthritis, Enthesitis, Sacroiliac arthritis, Infl... OMIM:106300
Chung-Jansen Syndrome
Anteverted nares, Tapered finger, Micrognathia, Large earlobe, Hip dysplasia, Thin vermilion bord... OMIM:617991
Congenital Disorder Of Glycosylation, Type Iiy
Brachycephaly, Hip subluxation, Reduced bone mineral density OMIM:620200
Spondyloepimetaphyseal Dysplasia, Shohat Type
Joint laxity, Micromelia, Delayed epiphyseal ossification, Flared metaphysis, Vertebral hypoplasi... OMIM:602557
Fontaine Progeroid Syndrome
Mandibular prognathia, Micrognathia, High, narrow palate, Brachycephaly, Anteriorly placed anus, ... OMIM:612289
Recombinant Chromosome 8 Syndrome
Thin upper lip vermilion, Posteriorly rotated ears, Anteverted nares, Depressed nasal bridge, Abn... OMIM:179613
Antley-Bixler Syndrome Without Genital Anomalies Or Disordered Steroidogenesis
Flexion contracture, Brachycephaly, Femoral bowing, Choanal stenosis, Arachnodactyly, Depressed n... OMIM:207410
Developmental And Epileptic Encephalopathy 73
Narrow nasal bridge, Sensorineural hearing impairment, Flexion contracture, Hip dysplasia, Short ... OMIM:618379
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2B, Prenatal Onset, Autosomal Dominant
Central apnea, Congenital hip dislocation, Femur fracture, Abnormal pinna morphology, Ulnar devia... OMIM:618291
Intellectual Developmental Disorder With Dysmorphic Facies, Seizures, And Distal Limb Anomalies
Thin upper lip vermilion, Flat occiput, Overlapping toe, Down-sloping shoulders, Abnormal pinna m... OMIM:617452
Schwartz-Jampel Syndrome
Apnea, Micromelia, Micrognathia, Coxa vara, High palate, Wrist flexion contracture, Low-set, post... ORPHA:800
Edinburgh Malformation Syndrome
Frontal bossing, Anteverted nares, Choanal atresia, Joint stiffness, Micrognathia, Long fingers, ... ORPHA:1895
Treacher-Collins Syndrome
Micrognathia, Hypoplasia of the maxilla, Brachycephaly, Glossoptosis, High palate, Abnormality of... ORPHA:861
Muenke Syndrome
Tarsal synostosis, High, narrow palate, Sensorineural hearing impairment, Brachycephaly, Cone-sha... ORPHA:53271
Terminal Osseous Dysplasia
Syndactyly, Multiple joint contractures, Camptodactyly of finger, Accessory oral frenulum, Abnorm... OMIM:300244
Intellectual Disability-Hypoplastic Corpus Callosum-Preauricular Tag Syndrome
Death in infancy, Camptodactyly of finger, Micrognathia, Recurrent pneumonia, Optic atrophy, Prot... ORPHA:1495
Chondrodysplasia-Difference Of Sex Development Syndrome
Short metacarpal, Broad long bones, Micromelia, Increased skull ossification, Abnormal shoulder m... ORPHA:1422
Cleft Palate-Lateral Synechia Syndrome
Oral synechia, Everted lower lip vermilion, Cleft palate, Narrow mouth ORPHA:2016
Neuropathy, Hereditary Sensory And Autonomic, Type V
Arthropathy, Osteomyelitis, Recurrent fractures, Osteoarthritis, Painless fractures due to injury... OMIM:608654
Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 1
Decreased motor nerve conduction velocity, Thin upper lip vermilion, Slender nose, Micrognathia, ... OMIM:615419
Joubert Syndrome 1
Central apnea, Optic disc pallor, Anteverted nares, Episodic tachypnea, Protruding tongue, Postax... OMIM:213300
Short Stature, Amelogenesis Imperfecta, And Skeletal Dysplasia With Scoliosis
Microretrognathia, Hip contracture, Mandibular prognathia, Hearing impairment, Coxa valga, Cariou... OMIM:618363
Hypophosphatemic Rickets, X-Linked Dominant
Shortening of the talar neck, Osteomalacia, Bowing of the legs, Osteoarthritis, Bone pain, Ricket... OMIM:307800
Cleft Palate, Isolated
Anterior open-bite malocclusion, Increased overbite, Gingival overgrowth, Cleft palate OMIM:119540
Carpenter Syndrome 1
Duplication of the proximal phalanx of the hallux, Micrognathia, Hypoplasia of the maxilla, Brach... OMIM:201000
Atelosteogenesis, Type I
Micrognathia, Short metatarsal, Tibial bowing, Neonatal death, Vertebral hypoplasia, Short metaca... OMIM:108720
Sweeney-Cox Syndrome
Flat occiput, Uplifted earlobe, Micrognathia, Brachycephaly, High palate, Short philtrum, 2-5 toe... OMIM:617746
Endocrine-Cerebroosteodysplasia
Micromelia, Micrognathia, Preaxial polydactyly, Tibial bowing, Thick upper lip vermilion, Median ... OMIM:612651
Deafness, Autosomal Dominant 34, With Or Without Inflammation
Arthritis, Conjunctivitis OMIM:617772
Bryant-Li-Bhoj Neurodevelopmental Syndrome 2
Joint laxity, Mandibular prognathia, Midface retrusion, Frontal bossing, Arachnodactyly, Postaxia... OMIM:619721
German Syndrome
Depressed nasal bridge, Camptodactyly of finger, Micrognathia, Hearing abnormality, Limitation of... ORPHA:2077
Schneckenbecken Dysplasia
Hypoplastic scapulae, Anterior rib cupping, Dumbbell-shaped long bone, Snail-like ilia, Flat acet... OMIM:269250
Spondyloepimetaphyseal Dysplasia Congenita, Strudwick Type
Abnormally ossified vertebrae, Restricted large joint movement, Micrognathia, Carious teeth, Hypo... ORPHA:93346
Femur-Fibula-Ulna Complex
Short humerus, Finger syndactyly, Abnormal morphology of ulna, Micromelia, Split hand, Humeroradi... ORPHA:2019
Leukocyte Adhesion Deficiency Type Ii
Mandibular prognathia, Small earlobe, Severe periodontitis, Overlapping toe, Depressed nasal brid... ORPHA:99843
Aase-Smith Syndrome
Multiple joint contractures, Abnormal pinna morphology, Camptodactyly of finger, Joint stiffness,... ORPHA:916
Isolated Congenital Hypoglossia/Aglossia
Respiratory distress, Micrognathia, Dyspnea, Temporomandibular joint ankylosis, Aplasia/Hypoplasi... ORPHA:141152
Myalgia-Eosinophilia Syndrome Associated With Tryptophan
Arthritis, Limitation of joint mobility ORPHA:2582
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Leptodactylic Type
Joint laxity, Abnormal metatarsal morphology, Hip subluxation, Flat capital femoral epiphysis, De... ORPHA:93360
Short-Rib Thoracic Dysplasia 20 With Polydactyly
Micrognathia, Preaxial polydactyly, Brachycephaly, Narrow greater sciatic notch, Absent nasal bri... OMIM:617925
Maxillonasal Dysplasia
Mandibular prognathia, Depressed nasal bridge, Aplasia/Hypoplasia of the distal phalanges of the ... ORPHA:1248
Radio-Renal Syndrome
Respiratory distress, Depressed nasal bridge, Micromelia, Micrognathia, High, narrow palate, Dysp... ORPHA:3015
Momo Syndrome
Delayed eruption of teeth, Frontal bossing, Underfolded helix, Thick lower lip vermilion, Dental ... ORPHA:2563
Gómez-López-Hernández Syndrome
Turricephaly, Anteverted nares, Brachycephaly, Thin vermilion border, Low-set ears, Midface retru... ORPHA:1532
Metaphyseal Chondrodysplasia, Schmid Type
Broad proximal phalanges of the hand, Bowing of the legs, Short tubular bones of the hand, Proxim... ORPHA:174
Brachydactyly-Mesomelia-Intellectual Disability-Heart Defects Syndrome
Micrognathia, Abnormal shoulder morphology, Tooth agenesis, Mesomelia, Convex nasal ridge, Abnorm... ORPHA:1277
8Q12 Microduplication Syndrome
Narrow mouth, Sensorineural hearing impairment, Wide nasal bridge, Brachycephaly, Short foot, Eve... ORPHA:228399
Maxillonasal Dysplasia, Binder Type
Depressed nasal bridge, Dental malocclusion, Large earlobe, Short columella, Short nose, Short di... OMIM:155050
17P13.3 Microduplication Syndrome
Frontal bossing, Wide nose, Congenital hip dislocation, High palate, Low-set ears, Narrow mouth, ... ORPHA:217385
Cebalid Syndrome
Turricephaly, Posteriorly rotated ears, Abnormal pinna morphology, Anteverted nares, Depressed na... OMIM:618774
Otospondylomegaepiphyseal Dysplasia
Micrognathia, Osteoarthritis, Abnormal iliac wing morphology, Tibial bowing, Abnormal long bone m... ORPHA:1427
Congenital Myopathy 14
Hip contracture, Death in infancy, Apnea, Respiratory insufficiency due to muscle weakness, Flexi... OMIM:618414
Teebi Hypertelorism Syndrome 2
Delayed eruption of teeth, Syndactyly, Thin upper lip vermilion, Depressed nasal bridge, Broad na... OMIM:619736
Spondyloepimetaphyseal Dysplasia, Faden-Alkuraya Type
Osteopenia, Short fourth metatarsal, Tented upper lip vermilion, Femoral bowing, Short metacarpal... OMIM:616723
Intellectual Disability-Obesity-Brain Malformations-Facial Dysmorphism Syndrome
Thin upper lip vermilion, Abnormal pinna morphology, Tapered finger, Wide nasal bridge, Brachycep... ORPHA:352530
Mesomelic Limb Shortening And Bowing
Camptodactyly of finger, Bowing of the legs, Micrognathia, Mesomelic arm shortening, Cleft palate... OMIM:249710
Temtamy Preaxial Brachydactyly Syndrome
Abnormal spaced incisors, Micrognathia, Hypoplasia of the maxilla, Widely-spaced maxillary centra... ORPHA:363417
Ceroid Lipofuscinosis, Neuronal, 10
Apnea, Split hand, Wide nasal bridge, Respiratory insufficiency, Respiratory failure, Low-set ear... OMIM:610127
Developmental Malformations-Deafness-Dystonia Syndrome
Death in early adulthood, Hypoplastic scapulae, Femoral retroversion, Micromelia, Sensorineural h... ORPHA:79107
Femoral-Facial Syndrome
Thin upper lip vermilion, Short femur, Micrognathia, Abnormal rib morphology, Rib fusion, Abnorma... ORPHA:1988
Oculodentodigital Dysplasia, Autosomal Recessive
Dental crowding, Micrognathia, Hypoplasia of the maxilla, Long nose, Brachycephaly, Hypoplasia of... OMIM:257850
Aminopterin/Methotrexate Embryofetopathy
Low-set, posteriorly rotated ears, Aplasia/Hypoplasia of the thumb, Finger syndactyly, Mandibular... ORPHA:1908
Enthesitis-Related Juvenile Idiopathic Arthritis
Finger dactylitis, Abnormal metacarpophalangeal joint morphology, Anterior uveitis, Abnormal meta... ORPHA:85438
Otopalatodigital Syndrome, Type I
Abnormality of the fifth metatarsal bone, Selective tooth agenesis, Absent frontal sinuses, Femor... OMIM:311300
Stickler Syndrome Type 1
Joint hyperflexibility, Osteoarthritis ORPHA:90653
Periventricular Nodular Heterotopia 7
Contracture of the proximal interphalangeal joint of the 2nd finger, Dental crowding, Elbow contr... OMIM:617201
Osteoglophonic Dysplasia
Osteopenia, Mandibular prognathia, Respiratory distress, Hypoplasia of the maxilla, Short metatar... OMIM:166250
Ulna Hypoplasia-Intellectual Disability Syndrome
Hypoplasia of the ulna, Broad hallux phalanx, Micromelia, Joint stiffness, Metatarsus adductus, H... ORPHA:2249
Short-Rib Thoracic Dysplasia 16 With Or Without Polydactyly
Respiratory distress, Short metacarpal, Brachydactyly, Sandal gap, Depressed nasal bridge, Postax... OMIM:617102
Robinow Syndrome, Autosomal Recessive 2
Micrognathia, Clinodactyly, Prominent fingertip pads, Broad hallux, Cleft soft palate, Anteverted... OMIM:618529
Lethal Kniest-Like Dysplasia
Abnormal ischium morphology, Broad long bones, Anterior rib cupping, Mesomelic/rhizomelic limb sh... ORPHA:2347
Fibrochondrogenesis 2
Frontal bossing, Anteverted nares, Micrognathia, Hypoplastic ilia, Cupped ribs, Metaphyseal widen... OMIM:614524
Distal Deletion 10Q
Micrognathia, Prominent nose, 2-3 toe cutaneous syndactyly, Short metatarsal, Brachycephaly, Prot... ORPHA:96148
Vitamin D-Dependent Rickets, Type 2B, With Normal Vitamin D Receptor
Bulging epiphyses, Bowing of the long bones, Thin bony cortex, Rickets of the lower limbs, Delaye... OMIM:600785
2q33.1 deletion syndrome
High palate, Cleft palate DECIPHER:51
Okur-Chung Neurodevelopmental Syndrome
Thin upper lip vermilion, Broad hallux, Anteverted nares, Protruding tongue, Micrognathia, Cupped... OMIM:617062
Multicentric Reticulohistiocytosis
Arthritis ORPHA:139436
Early-Onset Seizures-Distal Limb Anomalies-Facial Dysmorphism-Global Developmental Delay Syndrome
Hyperextensibility of the finger joints, Thin upper lip vermilion, Toe syndactyly, Arachnodactyly... ORPHA:505237
Kleefstra Syndrome Due To 9Q34 Microdeletion
Flat occiput, Anteverted nares, Protruding tongue, Brachycephaly, Downturned corners of mouth, Ma... ORPHA:96147
Pseudodiastrophic Dysplasia
Frontal bossing, Rhizomelia, Phalangeal dislocation, Anteverted nares, Micrognathia, Hypoplasia o... OMIM:264180
Autosomal Dominant Robinow Syndrome
Micromelia, Micrognathia, High, narrow palate, Abnormality of the gingiva, Coxa vara, Downturned ... ORPHA:3107
Smith-Magenis Syndrome
Mandibular prognathia, Everted upper lip vermilion, Hearing impairment, Abnormality of the dentit... OMIM:182290
Auriculocondylar Syndrome 2A
Overfolding of the superior helices, Respiratory distress, Dental crowding, Posteriorly rotated e... OMIM:614669
Congenital Muscular Dystrophy, Ullrich Type
Long toe, Micrognathia, Flexion contracture, Hip dislocation, Elbow flexion contracture, Hyperext... ORPHA:75840
Stüve-Wiedemann Syndrome
Osteopenia, Respiratory distress, Apnea, Micromelia, Metaphyseal widening, Flexion contracture, K... ORPHA:3206
Gomez-Lopez-Hernandez Syndrome
Turricephaly, Posteriorly rotated ears, Anteverted nares, Craniosynostosis, Wide anterior fontane... OMIM:601853
Hallermann-Streiff Syndrome
Selective tooth agenesis, Micrognathia, High, narrow palate, Metaphyseal widening, Brachycephaly,... OMIM:234100
Achondroplasia
Hip joint hypermobility, Bowing of the legs, Abnormal iliac wing morphology, Narrow greater sciat... ORPHA:15
Nabais Sa-De Vries Syndrome, Type 1
Neonatal respiratory distress, Depressed nasal bridge, Thickened helices, Prominent nasal bridge,... OMIM:618828
Codas Syndrome
Delayed eruption of teeth, Short metacarpal, Congenital hip dislocation, Abnormal dental morpholo... ORPHA:1458
Bullous Impetigo
Pustule, Septic arthritis, Recurrent bacterial skin infections ORPHA:36237
Stevenson-Carey Syndrome
Posteriorly rotated ears, Anteverted nares, Central hypoventilation, Underdeveloped nasal alae, P... OMIM:611961
Smith-Magenis Syndrome
Mandibular prognathia, Tented upper lip vermilion, Micrognathia, Brachycephaly, Short philtrum, C... ORPHA:819
Psoriasis 1, Susceptibility To
Arthritis, Psoriasiform dermatitis OMIM:177900
Stuve-Wiedemann Syndrome 1
Apnea, Micrognathia, Tibial bowing, Femoral bowing, Knee flexion contracture, Smooth tongue, Shor... OMIM:601559
Camptodactyly-Arthropathy-Coxa-Vara-Pericarditis Syndrome
Increased inflammatory response, Pericarditis, Camptodactyly of finger, Wrist swelling, Polyartic... ORPHA:2848
Developmental Delay With Variable Intellectual Impairment And Behavioral Abnormalities
Thin upper lip vermilion, Frontal bossing, Tented upper lip vermilion, Sandal gap, Posteriorly ro... OMIM:618430
Vitamin D Hydroxylation-Deficient Rickets, Type 1B
Frontal bossing, Bulging epiphyses, Thin bony cortex, Flat occiput, Recurrent fractures, Bowing o... OMIM:600081
Osteogenesis Imperfecta, Type Vii
Osteopenia, Death in infancy, Crumpled long bones, Multiple rib fractures, Rhizomelia, Protrusio ... OMIM:610682
Chromosome 5P13 Duplication Syndrome
Frontal bossing, Turricephaly, Posteriorly rotated ears, Craniosynostosis, Long fingers, Bulbous ... OMIM:613174
Neu-Laxova Syndrome
Osteopenia, Abnormality of the philtrum, Osteomalacia, Micromelia, Micrognathia, Trismus, Submuco... ORPHA:2671
Otospondylomegaepiphyseal Dysplasia, Autosomal Recessive
Micrognathia, Flexion contracture, Prominent interphalangeal joints, Aplasia/Hypoplasia of the ca... OMIM:215150
Contractural Arachnodactyly, Congenital
Osteopenia, Micrognathia, Brachycephaly, Knee flexion contracture, High palate, Wrist flexion con... OMIM:121050
Mandibulofacial Dysostosis-Microcephaly Syndrome
Accessory oral frenulum, Absent tragus, Micrognathia, Preaxial hand polydactyly, Hypoplasia of th... ORPHA:79113
Distal Duplication 18Q
Low-set, posteriorly rotated ears, Arachnodactyly, Camptodactyly of finger, Abnormal dental morph... ORPHA:1716
Vitamin D Hydroxylation-Deficient Rickets, Type 1A
Delayed eruption of teeth, Frontal bossing, Bulging epiphyses, Thin bony cortex, Flat occiput, Re... OMIM:264700
Camptomelic Syndrome, Long-Limb Type
Bowing of the long bones, Micromelia OMIM:211990
Glycine Encephalopathy With Normal Serum Glycine
Joint laxity, Hip contracture, Overlapping toe, Anteverted nares, Depressed nasal bridge, Trigono... OMIM:617301
Wieacker-Wolff Syndrome, Female-Restricted
Microretrognathia, Hip contracture, Radial deviation of the hand, Posteriorly rotated ears, Rocke... OMIM:301041
Impaired Intellectual Development And Distinctive Facial Features With Or Without Cardiac Defects
Frontal bossing, Depressed nasal bridge, Bulbous nose, Brachycephaly, Wide mouth, Macroglossia, P... OMIM:616789
Osteogenesis Imperfecta
Osteopenia, Abnormality of dental color, Convex nasal ridge, Micromelia, Micrognathia, Abnormal t... ORPHA:666
49,Xxxxy Syndrome
Mandibular prognathia, Pulmonary embolism, Depressed nasal ridge, Brachycephaly, Clinodactyly of ... ORPHA:96264
Hypomandibular Faciocranial Dysostosis
Death in infancy, Midface retrusion, Anteverted nares, Aplasia/Hypoplasia of the tongue, Craniosy... ORPHA:1790
Laron Syndrome
Delayed skeletal maturation, Osteoarthritis, Short toe, Abnormality of the elbow, Brachydactyly ORPHA:633
Degcags Syndrome
Osteopenia, Micrognathia, Prominent nose, High palate, Syndactyly, Anteverted nares, Hiatus herni... OMIM:619488
Ophthalmoplegia, Progressive, With Scrotal Tongue And Mental Deficiency
Furrowed tongue OMIM:165150
Spinocerebellar Ataxia-Dysmorphism Syndrome
Low-set, posteriorly rotated ears, Anteverted nares, Optic atrophy, Reduced bone mineral density,... ORPHA:1185
Cornelia De Lange Syndrome 4 With Or Without Midline Brain Defects
Brachycephaly, Coxa vara, Clinodactyly of the 5th finger, Syndactyly, Anteverted nares, 2-3 toe s... OMIM:614701
Osseous Heteroplasia, Progressive
Limb undergrowth, Ankylosis, Ectopic ossification in muscle tissue OMIM:166350
Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency
Thin upper lip vermilion, Anteverted nares, Intestinal malrotation, Postaxial polydactyly, Microg... ORPHA:404440
Cleft Palate With Or Without Ankyloglossia, X-Linked
Ankyloglossia, Bifid uvula, Cleft palate OMIM:303400
Hyperparathyroidism, Transient Neonatal
Osteopenia, Frontal bossing, Respiratory distress, Short femur, Anteverted nares, Metaphyseal spu... OMIM:618188
Dihydropyrimidine Dehydrogenase Deficiency
Delayed eruption of teeth, Epiphyseal dysplasia, Respiratory failure requiring assisted ventilati... ORPHA:1675
Apert Syndrome
Mandibular prognathia, Limited elbow movement, Delayed epiphyseal ossification, Brachycephaly, Cu... OMIM:101200
Progressive Spondyloepimetaphyseal Dysplasia-Short Stature-Short Fourth Metatarsals-Intellectual Disability Syndrome
Osteopenia, Short fourth metatarsal, Tented upper lip vermilion, Tibial metaphyseal irregularity,... ORPHA:457395
Microphthalmia With Limb Anomalies
2-3 toe cutaneous syndactyly, Deep philtrum, Tibial bowing, Camptodactyly of 2nd-5th fingers, Foo... OMIM:206920
Ear-Patella-Short Stature Syndrome
Respiratory distress, Micrognathia, Hypoplasia of the maxilla, High, narrow palate, Anotia, Clino... ORPHA:2554
Saethre-Chotzen Syndrome
Hypoplasia of the maxilla, Long nose, Brachycephaly, Partial duplication of the distal phalanx of... OMIM:101400
Angelman Syndrome
Mandibular prognathia, Flat occiput, Protruding tongue, Hypoplasia of the maxilla, Brachycephaly,... OMIM:105830
Mucolipidosis Type Iii
Craniofacial hyperostosis, Joint stiffness, Hearing abnormality, Cleft palate, Reduced bone miner... ORPHA:577
Spondyloepiphyseal Dysplasia-Brachydactyly And Distinctive Speech
Delayed epiphyseal ossification, Rhizo-meso-acromelic limb shortening, Flexion contracture, Hypop... OMIM:611717
Intellectual Disability-Severe Speech Delay-Mild Dysmorphism Syndrome
Mandibular prognathia, Broad nasal tip, Flexion contracture, Abnormality of the ear, Recurrent up... ORPHA:391372
Acromicric Dysplasia
Short metacarpal, Anteverted nares, Narrow mouth, Deep philtrum, Thick lower lip vermilion, Bulbo... OMIM:102370
Microcephaly, Facial Dysmorphism, Renal Agenesis, And Ambiguous Genitalia Syndrome
Overlapping toe, Depressed nasal bridge, Postaxial polydactyly, Micrognathia, Preaxial polydactyl... OMIM:618142
Marshall Syndrome
Micrognathia, Hypoplasia of the maxilla, Osteoarthritis, Brachycephaly, High palate, Thick upper ... ORPHA:560
Congenital Neuronal Ceroid Lipofuscinosis
Neonatal respiratory distress, Apnea, EEG with burst suppression, Split hand, Wide nasal bridge, ... ORPHA:168486
Melorheostosis
Increased bone mineral density, Joint stiffness, Bone pain, Arthritis, Ectopic ossification in mu... ORPHA:2485
Multicentric Osteolysis, Nodulosis, And Arthropathy
Osteopenia, Micrognathia, Hypoplasia of the maxilla, Metaphyseal widening, Brachycephaly, Metatar... OMIM:259600
48,Xxxy Syndrome
Delayed eruption of teeth, Mandibular prognathia, Down-sloping shoulders, Abnormal dental enamel ... ORPHA:96263
Developmental And Epileptic Encephalopathy 100
Tented upper lip vermilion, Depressed nasal bridge, Protruding tongue, Micrognathia, Broad nasal ... OMIM:619777
Congenital Sialidosis Type 2
Protruding tongue, Optic atrophy, Gingival overgrowth, Polydactyly, Low-set ears, Hearing impairment ORPHA:93400
Congenital Heart Defects And Ectodermal Dysplasia
Frontal bossing, Anteverted nares, Depressed nasal bridge, Premature loss of primary teeth, Promi... OMIM:617364
Microphthalmia With Cyst, Bilateral Facial Clefts, And Limb Anomalies
Frontal bossing, Posteriorly rotated ears, Broad proximal phalanges of the hand, Choanal atresia,... OMIM:607597
Kury-Isidor Syndrome
Finger syndactyly, Frontal bossing, Tented upper lip vermilion, Anteverted nares, Rocker bottom f... OMIM:619762
Congenital Muscular Dystrophy With Intellectual Disability
Multiple joint contractures, Facial palsy, Abnormality of the tongue muscle, Hip dislocation, Res... ORPHA:370968
Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, And Genital Anomalies
Osteopenia, Epiphyseal dysplasia, Metaphyseal dysplasia, Depressed nasal bridge, Craniosynostosis... OMIM:614732
Martsolf Syndrome 1
Micrognathia, Hypoplasia of the maxilla, Osteopathia striata, Brachycephaly, High palate, Short p... OMIM:212720
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects
Osteopenia, Micrognathia, Brachycephaly, Shoulder dislocation, Microdontia, Prominent antitragus,... OMIM:245600
Peho-Like Syndrome
Tapered finger, Optic atrophy, Hypsarrhythmia, Open mouth, Retrognathia, Short nose OMIM:617507
Trisomy 20P
Micrognathia, Brachycephaly, Reduced bone mineral density, Protruding ear, Downturned corners of ... ORPHA:261318
Whistling Face Syndrome, Recessive Form
Shoulder flexion contracture, Prominent nasal bridge, Micrognathia, Underdeveloped nasal alae, Wh... OMIM:277720
Marshall Syndrome
Micrognathia, Absent frontal sinuses, Knee osteoarthritis, Clinodactyly of the 5th finger, Small ... OMIM:154780
Craniofacial Dysplasia-Short Stature-Ectodermal Anomalies-Intellectual Disability Syndrome
Depressed nasal bridge, Sagittal craniosynostosis, Micrognathia, Scaphocephaly, Small hand, Brach... ORPHA:459061
Pyogenic Sterile Arthritis, Pyoderma Gangrenosum, And Acne
Acne, Elbow flexion contracture, Sterile arthritis, Knee flexion contracture, Arthritis, Colitis,... OMIM:604416
Mosaic Trisomy 14
Low-set, posteriorly rotated ears, Frontal bossing, Anteverted nares, Camptodactyly of finger, Pr... ORPHA:1703
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly
Prominent nose, Preaxial polydactyly, Lobulated tongue, Narrow greater sciatic notch, Short tibia... OMIM:616300
Kniest Dysplasia
Enlarged epiphyses, Abnormality of the epiphysis of the femoral head, Aplasia/hypoplasia of the e... ORPHA:485
Microcephaly 26, Primary, Autosomal Dominant
Prominent nasal bridge, Protruding tongue, Recurrent pneumonia, Wide nasal bridge, Gingival overg... OMIM:619179
Phosphoribosylaminoimidazole Carboxylase Deficiency
Anteverted nares, Depressed nasal bridge, Choanal atresia, Missing ribs, Esophageal atresia, Trac... OMIM:619859
Microlissencephaly-Micromelia Syndrome
11 pairs of ribs, Respiratory distress, Micromelia, EEG abnormality, Long philtrum, Short nose, A... ORPHA:50810
Intellectual Disability-Hypotonic Facies Syndrome, X-Linked, 1
Tented upper lip vermilion, Micrognathia, Widely-spaced maxillary central incisors, High palate, ... OMIM:309580
Craniofacial-Deafness-Hand Syndrome
Aplasia/Hypoplasia involving the nose, Depressed nasal bridge, Camptodactyly of finger, Hypoplasi... ORPHA:1529
Acrodysostosis 1 With Or Without Hormone Resistance
Mandibular prognathia, Hypoplasia of the maxilla, Neonatal epiphyseal stippling, Short metatarsal... OMIM:101800