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
preweaning lethality, complete penetrance Col11a1em1(IMPC)Bay HOM   Early adult 0.00
protruding tongue 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
increased heart left ventricle size Col11a1em1(IMPC)Bay HET Early adult 9.35×10-05
cleft palate Col11a1em1(IMPC)Bay HOM E18.5 0.00
abnormal tail morphology Col11a1em1(IMPC)Bay HOM E18.5 0.00

Download data as:  TSV  XLS

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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 right eye

17 Images

X-ray

XRay Images Skull Lateral Orientation

10 Images

Eye Morphology

VIP of left fundus

17 Images

Eye Morphology

VIP of right fundus

17 Images

X-ray

XRay Images Skull Dorso Ventral Orientation

10 Images

X-ray

XRay Images Forepaw

10 Images

X-ray

XRay Images Whole Body Lateral Orientation

10 Images

Eye Morphology

VIP of left eye

17 Images

X-ray

XRay Images Whole Body Dorso Ventral

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
Osteochondritis dissecans, Avascular necrosis, Osteoarthritis, Bone pain, Abnormality of the wris... ORPHA:97332
Chondrocalcinosis 2
Arthropathy, Osteoarthritis, Polyarticular chondrocalcinosis OMIM:118600
Osteoarthritis Susceptibility 2
Heberden's node, Osteoarthritis OMIM:140600
Osteochondrosis Of The Tarsal Bone
Osteochondritis dissecans, Avascular necrosis, Ankle pain, Juvenile aseptic necrosis, Foot pain, ... ORPHA:563991
Brachydactylous Dwarfism, Mseleni Type
Joint subluxation, Hip osteoarthritis, Brachytelomesophalangy, Osteopenia, Knee osteoarthritis, L... ORPHA:2619
Slipped Femoral Capital Epiphyses
Proximal femoral epiphysiolysis, Hip osteoarthritis OMIM:182260
Angel-Shaped Phalangoepiphyseal Dysplasia
Pseudoepiphyses of the metacarpals, Premature osteoarthritis, Delayed ossification of carpal bone... OMIM:105835
Familial Calcium Pyrophosphate Deposition
Limitation of joint mobility, Osteoarthritis, Joint dislocation, Chondrocalcinosis, Calcification... ORPHA:1416
Peripheral Dysostosis
Brachydactyly, Joint stiffness, Cone-shaped epiphyses of the phalanges of the hand, Clinodactyly ... ORPHA:1795
Chondrocalcinosis 1
Chondrocalcinosis, Osteoarthritis OMIM:600668
Developmental Dysplasia Of The Hip 2
Coxa valga, Hip osteoarthritis, Arthritis OMIM:615612
Beukes Hip Dysplasia
Flat capital femoral epiphysis, Shallow acetabular fossae, Irregular capital femoral epiphysis, B... OMIM:142669
Chondrocalcinosis Due To Apatite Crystal Deposition
Chondrocalcinosis, Costal cartilage calcification, Arthropathy, Osteoarthritis of the small joint... OMIM:118610
Osteoarthritis Susceptibility 1
Hip osteoarthritis OMIM:165720
Familial Avascular Necrosis Of Femoral Head
Abnormal femoral neck/head morphology, Hip osteoarthritis, Flattened femoral head, Limited hip mo... ORPHA:86820
Osteochondrosis Of The Metatarsal Bone
Abnormality of the third metatarsal bone, Flattened metatarsal heads, Joint stiffness, Sclerosis ... ORPHA:564003
Peripheral Dysostosis
Cone-shaped epiphyses of the phalanges of the hand, Short phalanx of finger, Hip osteoarthritis OMIM:170700
Legg-Calvé-Perthes Disease
Avascular necrosis, Joint dislocation, Cartilage destruction, Delayed skeletal maturation ORPHA:2380
Spondyloepiphyseal Dysplasia Tarda, Autosomal Recessive
Osteoarthritis, Flattened metatarsal heads, Hip osteoarthritis, Flattened metacarpal heads OMIM:271600
Mueller-Weiss Syndrome
Limitation of movement at ankles, Joint subluxation, Joint stiffness, Sclerosis of foot bone, Kne... ORPHA:566943
Multiple Epiphyseal Dysplasia Type 1
Knee pain, Genu varum, Finger joint hypermobility, Knee joint hypermobility, Joint stiffness, Ost... ORPHA:93308
Atelosteogenesis, Type Ii
Abnormality of pelvic girdle bone morphology, Short greater sciatic notch, Hitchhiker thumb, Sand... OMIM:256050
Short Stature-Advanced Bone Age-Early-Onset Osteoarthritis Syndrome
Brachydactyly, Osteoarthritis, Short thumb ORPHA:435804
Orofacial Cleft 11
Cleft palate, Cleft lip OMIM:600625
Ehlers-Danlos Syndrome, Hypermobility Type
Joint laxity, Osteoarthritis, Joint dislocation, Joint hypermobility OMIM:130020
Diastrophic Dysplasia
Camptodactyly of finger, Micrognathia, Abnormal rib morphology, Micromelia, Hip dysplasia, Cleft ... ORPHA:628
Arthritis, Sacroiliac
Sacroiliac arthritis OMIM:108100
Osteoarthritis With Mild Chondrodysplasia
Knee osteoarthritis, Heberden's node, Joint stiffness, Hip osteoarthritis OMIM:604864
Talo-Patello-Scaphoid Osteolysis
Enlarged joints, Short 4th metacarpal, Osteolysis of talus, Osteolysis of scaphoids, Osteolysis o... ORPHA:50809
Glycoprotein Storage Disease
Gout OMIM:232900
Raine Syndrome
Microdontia, Micrognathia, Micromelia, Mandibular prognathia, Arthrogryposis multiplex congenita,... OMIM:259775
Achondrogenesis Type 2
Pierre-Robin sequence, Delayed proximal femoral epiphyseal ossification, Short ribs, Delayed vert... ORPHA:93296
Dysplasia Epiphysealis Hemimelica
Accelerated skeletal maturation, Genu varum, Joint stiffness, Abnormal femoral neck morphology, R... ORPHA:1822
Geographic And Fissured Tongue
Furrowed tongue, Geographic tongue OMIM:137400
Dysspondyloenchondromatosis
Enlarged joints, Multiple enchondromatosis, Abnormality of ulnar metaphysis, Abnormality of fibul... ORPHA:85198
Camptodactyly-Arthropathy-Coxa Vara-Pericarditis Syndrome
Constrictive pericarditis, Generalized morning stiffness, Flattened metatarsal heads, Flattened m... OMIM:208250
Hip Dysplasia, Beukes Type
Abnormality of the epiphysis of the femoral head, Broad femoral neck, Osteoarthritis, Abnormal bo... ORPHA:2114
Cranio-Osteoarthropathy
Joint stiffness, Deviation of finger, Osteoarthritis, Eczema, Abnormality of the knee, Abnormalit... ORPHA:1525
Epiphyseal Dysplasia, Multiple, 3
Knee pain, Short metacarpal, Osteoarthritis, Limited knee extension, Abnormal hip joint morpholog... OMIM:600969
Talo-Patello-Scaphoid Osteolysis, Synovitis, And Short Fourth Metacarpals
Short 4th metacarpal, Osteolysis of talus, Osteolysis of scaphoids, Osteolysis of patellae, Synov... OMIM:609655
Dyssegmental Dysplasia With Glaucoma
Dolichocephaly, Broad long bones, Micromelia, Flared metaphysis, Wide anterior fontanel, Malar fl... OMIM:601561
Metatropic Dysplasia
Joint stiffness, Abnormal enchondral ossification, Clinodactyly of the 5th finger, Abnormal rib m... ORPHA:2635
Craniosynostosis, Herrmann-Opitz Type
Brachydactyly, Craniosynostosis, Finger syndactyly, Microtia, Convex nasal ridge, Micrognathia, A... ORPHA:2145
Chondrodysplasia Punctata, Tibia-Metacarpal Type
Depressed nasal ridge, Short 4th metacarpal, Epiphyseal stippling, Midface retrusion, Micromelia,... OMIM:118651
Vitreoretinopathy With Phalangeal Epiphyseal Dysplasia
Brachydactyly, Hip osteoarthritis, Abnormal epiphysis morphology of the phalanges of the hand OMIM:619248
Lethal Recessive Chondrodysplasia
Flared elbow metaphyses, Micrognathia, Macroglossia, Generalized osteosclerosis, Micromelia, Limb... ORPHA:1423
Angel-Shaped Phalango-Epiphyseal Dysplasia
Hip osteoarthritis, Short middle phalanx of finger, Short 1st metacarpal, Short middle phalanx of... ORPHA:63442
Multiple Epiphyseal Dysplasia Due To Collagen 9 Anomaly
Knee pain, Genu varum, Fragmentation of the metacarpal epiphyses, Radially deviated wrists, Bilat... ORPHA:166002
Marshall-Smith Syndrome
Bowing of the long bones, Craniosynostosis, Slender long bone, Joint hyperflexibility, Open mouth... ORPHA:561
Syngnathia
Cleft palate OMIM:119550
Pseudoachondroplasia
Genu varum, Generalized joint laxity, Abnormality of femoral epiphysis, Irregular carpal bones, I... ORPHA:750
Pierre Robin Sequence With Facial And Digital Anomalies
Pierre-Robin sequence, Clinodactyly of the 5th finger, Tapered finger, Short distal phalanx of fi... OMIM:311895
Acrodysostosis
Abnormality of the ulna, Open bite, Cone-shaped epiphysis, Micromelia, Mandibular prognathia, Sho... ORPHA:950
Odontochondrodysplasia
Bowing of the long bones, Coxa valga, Delayed eruption of teeth, Short palm, Square pelvis bone, ... ORPHA:166272
Epiphyseal Dysplasia, Multiple, 1
Joint stiffness, Hip osteoarthritis, Short femoral neck, Short metacarpal, Broad femoral neck, Sh... OMIM:132400
Poirier-Bienvenu Neurodevelopmental Syndrome
Open mouth, Protruding tongue, Downturned corners of mouth, Smooth philtrum OMIM:618732
Epiphyseal Dysplasia, Multiple, 6
Flat capital femoral epiphysis, Knee pain, Irregular distal femoral epiphysis, Osteoarthritis, Ab... OMIM:614135
Short Stature And Advanced Bone Age, With Or Without Early-Onset Osteoarthritis And/Or Osteochondritis Dissecans
Brachydactyly, Accelerated skeletal maturation, Hip osteoarthritis, Short thumb, Osteoarthritis, ... OMIM:165800
Progressive Osseous Heteroplasia
Brachydactyly, Osteoarthritis, Ectopic ossification in muscle tissue, Bone pain, Limitation of jo... ORPHA:2762
Robin Sequence-Oligodactyly Syndrome
Abnormality of the ulna, Hand oligodactyly, Clinodactyly of the 5th finger, Glossoptosis, Abnorma... ORPHA:3104
Ankylosing Vertebral Hyperostosis With Tylosis
Osteoarthritis ORPHA:2206
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type
Hypoplastic ischia, Wormian bones, Wide nose, Low-set ears, Short ribs, Deep philtrum, Tachypnea,... OMIM:613320
Autosomal Recessive Omodysplasia
Craniosynostosis, Long philtrum, Low-set ears, Rhizomelia, Micrognathia, Micromelia, Abnormality ... ORPHA:93329
Hypochondroplasia
Brachydactyly, Genu varum, Bowing of the long bones, Osteoarthritis, Abnormality of femur morphol... ORPHA:429
Epiphyseal Dysplasia, Multiple, 5
Metaphyseal irregularity, Premature osteoarthritis, Delayed ossification of carpal bones, Short f... OMIM:607078
Tongue, Pigmented Fungiform Papillae Of
Abnormality of the tongue OMIM:275250
Multiple Epiphyseal Dysplasia Type 5
Knee pain, Genu varum, Premature osteoarthritis, Joint stiffness, Decreased hip abduction, Delaye... ORPHA:93311
Spondyloepimetaphyseal Dysplasia, Handigodu Type
Knee pain, Hip osteoarthritis, Short femoral neck, Broad radial metaphysis, Wide distal femoral m... ORPHA:99642
Congenital Disorder Of Glycosylation, Type Iia
Brachycephaly, Osteopenia, Coxa valga, Macrodontia, Open mouth, Sensorineural hearing impairment,... OMIM:212066
Spondyloepiphyseal Dysplasia, Kimberley Type
Micromelia, Osteoarthritis ORPHA:93283
Pierre Robin Syndrome
Pierre-Robin sequence, Glossoptosis, Cleft palate OMIM:261800
Heart-Hand Syndrome Type 2
Brachydactyly, Abnormality of the ulna, Abnormal palate morphology, Joint stiffness, Short 5th me... ORPHA:1350
Greenberg Dysplasia
Brachydactyly, Anterior rib punctate calcifications, Abnormal pelvis bone ossification, Rhizomeli... ORPHA:1426
Epiphyseal Dysplasia, Multiple, 2
Knee osteoarthritis, Genu varum, Short palm, Flattened knee epiphyses OMIM:600204
Blomstrand Lethal Chondrodysplasia
Long philtrum, Micrognathia, Distal shortening of limbs, Short nose, Bowing of the long bones, In... ORPHA:50945
Familial Digital Arthropathy-Brachydactyly
Brachydactyly, Shortening of all middle phalanges of the toes, Osteoarthritis of the small joints... ORPHA:85169
Lethal Osteosclerotic Bone Dysplasia
Low-set ears, Depressed nasal ridge, Gingival fibromatosis, Respiratory failure, Micrognathia, Dy... ORPHA:1832
Diastrophic Dysplasia
Irregular epiphyses, Flattened epiphysis, Hypertrophic auricular cartilage, Cystic lesions of the... OMIM:222600
Ulnar Hemimelia
Carpal synostosis, Curved toe phalanx, Radial club hand, Short forearm, Aplasia of metacarpal bon... ORPHA:93320
Chondrodysplasia, Blomstrand Type
Advanced ossification of carpal bones, Advanced tarsal ossification, Short ribs, Squared iliac bo... OMIM:215045
Beta-Mercaptolactate Cysteine Disulfiduria
High palate, Anteverted nares, Hypoplasia of the ear cartilage, EEG abnormality, Sandal gap, Conv... ORPHA:1035
Odontochondrodysplasia 1
Genu varum, Delayed ossification of carpal bones, Long philtrum, Osteoporosis, Micromelia, Metaph... OMIM:184260
Ollier Disease
Multiple enchondromatosis, Joint stiffness, Micromelia, Abnormality of the metaphysis, Osteolysis... ORPHA:296
Autosomal Dominant Myopia-Midfacial Retrusion-Sensorineural Hearing Loss-Rhizomelic Dysplasia Syndrome
Brachydactyly, Rhizomelia, Sensorineural hearing impairment, Hypoplastic scapulae, Micrognathia, ... ORPHA:440354
Trigonobrachycephaly, Bulbous Bifid Nose, Micrognathia, And Abnormalities Of The Hands And Feet
Trigonocephaly, Bulbous nose, Micrognathia, Brachycephaly, Bifid nasal tip, Prominent metopic rid... OMIM:275595
Distal Monosomy 17Q
Narrow mouth, Abnormal hip bone morphology, Abnormal thumb morphology, Deviation of finger, Aplas... ORPHA:1597
Achondrogenesis Type 1A
Long philtrum, Abnormal enchondral ossification, Recurrent fractures, Short palm, Micrognathia, M... ORPHA:93299
Achondrogenesis Type 1B
Long philtrum, Abnormal enchondral ossification, Micrognathia, Abnormal rib morphology, Micromeli... ORPHA:93298
Metatropic Dysplasia
Cupped ribs, Flared humeral metaphysis, Abnormal metaphyseal vascular invasion, Flared femoral me... OMIM:156530
Metaphyseal Dysplasia Without Hypotrichosis
Genu varum, Metaphyseal irregularity, Abnormality of pelvic girdle bone morphology, Short long bo... OMIM:250460
Paget Disease Of Bone 6
Bone pain, Osteoarthritis, Recurrent fractures OMIM:616833
Isolated Pierre Robin Syndrome
Glossoptosis, Cleft palate ORPHA:718
17Q21.31 Microduplication Syndrome
Abnormality of the outer ear, Short philtrum, High palate, Toe syndactyly, Sandal gap, Clinodacty... ORPHA:217340
Complement Component C1R/C1S Deficiency
Discoid lupus rash, Nephritis, Arthritis OMIM:216950
Congenital Arthrogryposis With Anterior Horn Cell Disease
High palate, Low-set ears, Rocker bottom foot, Respiratory failure, Micrognathia, Abnormal anteri... OMIM:611890
Mesomelia-Synostoses Syndrome
Long philtrum, Clinodactyly of the 5th finger, High, narrow palate, Micrognathia, Micromelia, Abn... ORPHA:2496
Cleidocranial Dysplasia
Abnormal thumb morphology, Open bite, Clinodactyly of the 5th finger, Tapered finger, Osteoporosi... ORPHA:1452
Dysostosis, Stanescu Type
Macroglossia, Micromelia, Massively thickened long bone cortices, Hypoplasia of the zygomatic bon... ORPHA:1798
Metaphyseal Acroscyphodysplasia
Genu varum, Cone-shaped metacarpal epiphyses, Micromelia, Short toe, Metaphyseal widening, Brachy... OMIM:250215
Spondyloepimetaphyseal Dysplasia, Irapa Type
Synostosis of carpal bones, Short palm, Short metacarpal, Upper limb undergrowth, Limitation of j... ORPHA:93351
Metaphyseal Acroscyphodysplasia
Brachydactyly, Genu varum, Bowing of the long bones, Cone-shaped metacarpal epiphyses, Coxa valga... ORPHA:1240
Down Syndrome
Sandal gap, Clinodactyly of the 5th finger, Microdontia, Macroglossia, Short nose, Narrow mouth, ... ORPHA:870
Multiple Epiphyseal Dysplasia, Beighton Type
Brachydactyly, Flat capital femoral epiphysis, Reduced proximal interphalangeal joint space, Knee... ORPHA:166011
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly
Brachydactyly, Horizontal ribs, Prominent occiput, Long philtrum, Low-set ears, Dolichocephaly, S... OMIM:617895
Grant Syndrome
Bowing of the long bones, Wormian bones, Abnormal palate morphology, Abnormality of pelvic girdle... ORPHA:2097
Bone Dysplasia, Lethal Holmgren Type
Hearing abnormality, Abnormal thumb morphology, Abnormality of epiphysis morphology, Depressed na... ORPHA:1842
Short Stature-Obesity Syndrome
Brachydactyly, Clinodactyly of the 5th finger, Narrow nose, Microtia, Micrognathia, Micromelia, P... OMIM:269870
Metachondromatosis
Bowing of the long bones, Multiple enchondromatosis, Abnormal joint morphology OMIM:156250
Facial Abnormalities, Kyphoscoliosis, And Mental Retardation
Protruding tongue, Macroglossia OMIM:227250
Apert Syndrome
Bifid uvula, Cervical C5/C6 vertebrae fusion, Micromelia, Cloverleaf skull, Mandibular prognathia... ORPHA:87
3M Syndrome
Horizontal ribs, Long philtrum, Clinodactyly of the 5th finger, Everted lower lip vermilion, Micr... ORPHA:2616
Kleefstra Syndrome 1
Brachydactyly, Anteverted nares, Hearing impairment, Everted lower lip vermilion, U-Shaped upper ... OMIM:610253
Kyphomelic Dysplasia
Bowing of the long bones, Missing ribs, Joint stiffness, Anterior rib cupping, Undulate ribs, Mic... ORPHA:1801
Spondylosis, Cervical
Osteoarthritis OMIM:184300
Developmental And Epileptic Encephalopathy 80
High palate, Uplifted earlobe, Long philtrum, Low-set ears, Triphalangeal thumb, Tapered finger, ... OMIM:618580
Spondyloepimetaphyseal Dysplasia, Irapa Type
Short palm, Short metacarpal, Upper limb undergrowth, Broad femoral neck, Osteoarthritis, Limited... OMIM:271650
Pallister-Hall-Like Syndrome
Short ribs, Micrognathia, Microglossia, Micromelia, Depressed nasal bridge, Postaxial hand polyda... OMIM:241800
Thanatophoric Dysplasia
Brachydactyly, Abnormal ilium morphology, Joint stiffness, Low-set ears, Midface retrusion, Micro... ORPHA:2655
Craniofacial Dysostosis With Diaphyseal Hyperplasia
Brachydactyly, Micromelia, Thin calvarium, Limb undergrowth, Brachycephaly, Massively thickened l... OMIM:122900
Palant Cleft Palate Syndrome
Contracture of the proximal interphalangeal joint of the 4th finger, Contracture of the proximal ... OMIM:260150
Langer Mesomelic Dysplasia
Bowing of the long bones, High palate, Abnormality of the ulna, Short femoral neck, Aplasia/Hypop... ORPHA:2632
Ehlers-Danlos Syndrome, Arthrochalasia Type, 1
Premature osteoarthritis, Osteopenia, Joint subluxation, Joint laxity, Increased susceptibility t... OMIM:130060
Progressive Pseudorheumatoid Dysplasia
Genu varum, Enlargement of the proximal femoral epiphysis, Joint stiffness, Joint contracture of ... OMIM:208230
Multiple Metaphyseal Dysplasia
Brachydactyly, Abnormal hip bone morphology, Abnormality of epiphysis morphology, Depressed nasal... ORPHA:93430
Fibrochondrogenesis
Narrow mouth, Brachydactyly, Hearing abnormality, Plagiocephaly, Low-set ears, Short ribs, Hypopl... ORPHA:2021
Van Der Woude Syndrome 2
Anodontia, Cleft upper lip, Cleft palate OMIM:606713
Pierre Robin Syndrome And Oligodactyly
Pierre-Robin sequence, Hand oligodactyly, Cleft palate OMIM:172880
Catel-Manzke Syndrome
Joint stiffness, Metatarsus valgus, Abnormality of epiphysis morphology, Clinodactyly of the 5th ... ORPHA:1388
Coxoauricular Syndrome
Abnormality of pelvic girdle bone morphology, Hearing impairment, Atresia of the external auditor... ORPHA:1508
Peroxisome Biogenesis Disorder 1A (Zellweger)
Micrognathia, High, narrow palate, Macroglossia, Ulnar deviation of the hand or of fingers of the... OMIM:214100
Larsen-Like Osseous Dysplasia-Short Stature Syndrome
Narrow mouth, Brachydactyly, Abnormality of pelvic girdle bone morphology, Clinodactyly of the 5t... ORPHA:2370
Acrocapitofemoral Dysplasia
Small finger, Genu varum, Cupped ribs, Delayed ossification of carpal bones, Cone-shaped metacarp... OMIM:607778
Atelosteogenesis Type Ii
Long philtrum, Sandal gap, Rhizomelic arm shortening, Micrognathia, Micromelia, Ulnar deviation o... ORPHA:56304
Spondyloepiphyseal Dysplasia-Craniosynostosis-Cleft Palate-Cataracts-Intellectual Disability Syndrome
Abnormality of cranial sutures, Long philtrum, Abnormal bone ossification, Micrognathia, Delayed ... ORPHA:163649
Glutamine Deficiency, Congenital
Anteverted nares, Flexion contracture, Low-set ears, Neonatal death, Wide nasal bridge, Micromeli... OMIM:610015
Image Syndrome
Low-set ears, Micromelia, Frontal bossing, Depressed nasal bridge, Metaphyseal dysplasia ORPHA:85173
Ophthalmomandibulomelic Dysplasia
Synostosis of carpal bones, Symphalangism affecting the phalanges of the hand, Temporomandibular ... ORPHA:2741
Cooper-Jabs Syndrome
Abnormal hip bone morphology, Missing ribs, Conductive hearing impairment, Atresia of the externa... ORPHA:1488
Greenberg Dysplasia
Multiple prenatal fractures, Hypoplastic vertebral bodies, 11 pairs of ribs, Decreased skull ossi... OMIM:215140
Melkersson-Rosenthal Syndrome
Furrowed tongue OMIM:155900
Osteopathia Striata-Cranial Sclerosis Syndrome
Bifid uvula, High, narrow palate, Micrognathia, Retrognathia, Coarse metaphyseal trabecularizatio... ORPHA:2780
Astley-Kendall Dysplasia
Micromelia, Epiphyseal stippling ORPHA:85175
Cardiomyopathy-Cataract-Hip Spine Disease Syndrome
Avascular necrosis, Osteoarthritis, Joint stiffness ORPHA:1345
Polyneuropathy-Intellectual Disability-Acromicria-Premature Menopause Syndrome
Brachydactyly, Abnormality of pelvic girdle bone morphology, Decreased nerve conduction velocity,... ORPHA:2928
Achondrogenesis, Type Ib
Absent or minimally ossified vertebral bodies, Short ribs, Micromelia, Malar flattening, Respirat... OMIM:600972
Down Syndrome
Shallow acetabular fossae, Short palm, Joint laxity, Conductive hearing impairment, Aganglionic m... OMIM:190685
Spondyloepiphyseal Dysplasia, Nishimura Type
Brachydactyly, Osteoarthritis, Small hand, Delayed epiphyseal ossification OMIM:618618
C Syndrome
Clinodactyly, Micrognathia, Micromelia, Short nose, Hip dislocation, Accessory oral frenulum, Hig... OMIM:211750
Cartilage-Hair Hypoplasia
Abnormal distal phalanx morphology of finger, Abnormal hip bone morphology, EEG abnormality, Abno... ORPHA:175
Ring Chromosome 22 Syndrome
2-3 toe syndactyly, Bulbous nose, Dolichocephaly, Pleural effusion, Midface retrusion, Macrotia, ... ORPHA:1446
Cenani-Lenz Syndrome
Short thumb, High, narrow palate, Abnormal rib morphology, Micromelia, Protruding ear, Hip disloc... ORPHA:3258
Spondylometaepiphyseal Dysplasia, Short Limb-Hand Type
Micrognathia, Micromelia, Broad long bones, Short nose, High palate, Recurrent pneumonia, Bowing ... OMIM:271665
Acrocephalopolydactyly
Brachydactyly, Depressed nasal ridge, Microtia, Oxycephaly, Premature closure of fontanelles, Lim... ORPHA:221054
Short Rib-Polydactyly Syndrome
Horizontal ribs, Abnormal ilium morphology, Abnormal pelvis bone morphology, Metaphyseal spurs, C... ORPHA:1505
Spondyloepiphyseal Dysplasia Tarda
Knee pain, Abnormality of the tibial plateaux, Limb pain, Flattened femoral head, Premature osteo... ORPHA:93284
Microbrachycephaly-Ptosis-Cleft Lip Syndrome
Brachydactyly, Hearing abnormality, Abnormal thumb morphology, Abnormality of the ear, Short palm... ORPHA:2511
Microcephaly-Micromelia Syndrome
Narrow mouth, Craniosynostosis, Wide nose, Absent radius, Low-set ears, Oligodactyly, Convex nasa... OMIM:251230
Spondyloepimetaphyseal Dysplasia, Borochowitz-Cormier-Daire Type
Irregular epiphyses, Bowing of the legs, Narrow iliac wing, Hypoplastic pubic bone, Posterior rib... OMIM:608728
Albers-Schönberg Osteopetrosis
Recurrent fractures, Avascular necrosis, Osteoarthritis, Joint dislocation, Generalized osteoscle... ORPHA:53
Ehlers-Danlos Syndrome, Dermatosparaxis Type
Osteopenia, Delayed closure of the anterior fontanelle, Joint laxity, Hypodontia, Everted lower l... OMIM:225410
Spondyloepimetaphyseal Dysplasia, Shohat Type
Genu varum, Metaphyseal irregularity, Vertebral hypoplasia, Short femoral neck, Short ribs, Joint... OMIM:602557
Growth Retardation, Developmental Delay, And Facial Dysmorphism
Brachydactyly, Bifid uvula, Skull asymmetry, Sensorineural hearing impairment, Macroglossia, Retr... OMIM:612938
Eiken Syndrome
Metaphyseal irregularity, Abnormal fingertip morphology, Abnormal trabecular bone morphology, Sho... ORPHA:79106
Fibrodysplasia Ossificans Progressiva
Small cervical vertebral bodies, Abnormality of the first metatarsal bone, Clinodactyly of the 5t... OMIM:135100
X-Linked Intellectual Disability-Cardiomegaly-Congestive Heart Failure Syndrome
Abnormal thumb morphology, Bulbous nose, Contractures of the large joints, Everted lower lip verm... ORPHA:324410
2Q32Q33 Microdeletion Syndrome
Narrow mouth, High palate, Anteverted nares, Toe clinodactyly, Long philtrum, Low-set ears, Oligo... ORPHA:251019
Pierpont Syndrome
Broad nasal tip, Everted lower lip vermilion, Widely spaced teeth, Short toe, Short nose, Long up... OMIM:602342
Adenylosuccinate Lyase Deficiency
Long philtrum, Low-set ears, Smooth philtrum, Flat occiput, Brachycephaly, Thin upper lip vermili... ORPHA:46
Non-Distal Trisomy 10Q
High palate, Everted lower lip vermilion, Convex nasal ridge, Micrognathia, Low-set, posteriorly ... ORPHA:1695
Congenital Pseudoarthrosis Of The Clavicle
Osteoarthritis ORPHA:66630
Craniosynostosis-Hydrocephalus-Arnold-Chiari Malformation Type I-Radioulnar Synostosis Syndrome
Bowing of the long bones, Toe syndactyly, Craniosynostosis, Anteverted nares, Long philtrum, Shor... ORPHA:171839
Boomerang Dysplasia
Abnormality of the ulna, Finger syndactyly, Aplasia/Hypoplasia of the fibula, Abnormal bone ossif... ORPHA:1263
Congenital Atransferrinemia
Arthritis ORPHA:1195
Robinow Syndrome, Autosomal Dominant 2
Clinodactyly, Long philtrum, Micrognathia, Thin upper lip vermilion, Short nose, Triangular mouth... OMIM:616331
4Q21 Microdeletion Syndrome
Short philtrum, Toe syndactyly, Short palm, Low-set ears, Hearing impairment, Micromelia, Frontal... ORPHA:238750
Muenke Syndrome
Brachydactyly, High palate, Clinodactyly, Recurrent otitis media, Thimble-shaped middle phalanges... OMIM:602849
Dyssegmental Dysplasia, Silverman-Handmaker Type
Micrognathia, Micromelia, Broad long bones, Cleft palate, Narrow mouth, Bowing of the legs, Hypop... ORPHA:1865
Chondrodysplasia With Joint Dislocations, Gpapp Type
Narrow mouth, Brachydactyly, Coronal craniosynostosis, Short metacarpal, Hearing impairment, Wide... OMIM:614078
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type
Multiple prenatal fractures, Decreased fibular diameter, Decreased skull ossification, Micrognath... OMIM:616897
Achondrogenesis
Long philtrum, Abnormal enchondral ossification, Micrognathia, Micromelia, Frontal bossing, Antev... ORPHA:932
Jeune Syndrome
Brachydactyly, Toe syndactyly, Abnormality of pelvic girdle bone morphology, Postaxial foot polyd... ORPHA:474
Imperforate Oropharynx-Costovertebral Anomalies Syndrome
Aplasia/Hypoplasia of the tongue, Missing ribs, Low-set ears, Clinodactyly of the 5th finger, Abn... ORPHA:2759
Pierpont Syndrome
Uplifted earlobe, Hearing impairment, Joint laxity, Everted lower lip vermilion, Widely spaced te... ORPHA:487825
Acrofrontofacionasal Dysostosis
Brachydactyly, High palate, Broad nasal tip, Abnormality of epiphysis morphology, Non-midline cle... ORPHA:1784
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2B, Prenatal Onset, Autosomal Dominant
Flexion contracture, Overlapping fingers, Respiratory failure, Congenital hip dislocation, Microg... OMIM:618291
Midline Malformations, Multiple, With Limb Abnormalities And Hypopituitarism
Cleft upper lip, Depressed nasal ridge, Overlapping fingers, Micromelia, Limb undergrowth, Campto... OMIM:601016
Platyspondylic Dysplasia, Torrance Type
Bowing of the long bones, Genu varum, Abnormal carpal morphology, Short palm, Low-set ears, Hypop... ORPHA:85166
Osteogenesis Imperfecta, Type Xii
Narrow mouth, High palate, Generalized osteoporosis, Progressive hearing impairment, Wormian bone... OMIM:613849
Spondylometaphyseal Dysplasia, X-Linked
Respiratory failure, Tapered finger, Sclerosis of skull base, Wide nasal bridge, Knee flexion con... OMIM:313420
Saethre-Chotzen Syndrome
Open bite, Clinodactyly of the 5th finger, Prominent crus of helix, Hallux valgus, Cleft palate, ... ORPHA:794
Gorham-Stout Disease
Abnormal pelvis bone morphology, Abnormal bone ossification, Osteolysis involving bones of the up... ORPHA:73
Acromicric Dysplasia
Narrow mouth, Brachydactyly, Joint stiffness, Long philtrum, Short palm, Abnormality of epiphysis... ORPHA:969
Ruvalcaba Syndrome
Short palm, Underdeveloped nasal alae, Short metacarpal, Narrow nose, Short phalanx of finger, Li... OMIM:180870
Eng-Strom Syndrome
Brachydactyly, Camptodactyly of finger, Arthritis ORPHA:1937
Rheumatoid Factor-Positive Polyarticular Juvenile Idiopathic Arthritis
Symmetric polyarthritis, Abnormality of limb bone morphology, Polyarticular arthritis, Osteopenia... ORPHA:85435
Dyssegmental Dysplasia, Rolland-Desbuquois Type
Advanced ossification of carpal bones, Bowing of the long bones, Short ribs, Broad long bones, Mi... OMIM:224400
Kniest Dysplasia
Recurrent otitis media, Tracheomalacia, Abnormal cartilage collagen, Conductive hearing impairmen... OMIM:156550
Léri-Weill Dyschondrosteosis
Genu varum, Abnormality of the ulna, Abnormal hip bone morphology, Clinodactyly of the 5th finger... ORPHA:240
Craniofrontonasal Dysplasia
Sandal gap, Clinodactyly of the 5th finger, Midline defect of the nose, Brachydactyly, High palat... ORPHA:1520
Hypophosphatasia, Infantile
Apnea, Bowing of the legs, Decreased calvarial ossification, Craniosynostosis, Short lower limbs,... OMIM:241500
Achondrogenesis, Type Ia
Hypoplastic ischia, Short ribs, Hypoplasia of the radius, Decreased skull ossification, Hypoplast... OMIM:200600
Spondyloepimetaphyseal Dysplasia, Missouri Type
Genu varum, Rhizomelia, Tibial bowing, Osteoarthritis, Metaphyseal cupping, Limited elbow extensi... OMIM:602111
Cataract-Intellectual Disability-Hypogonadism Syndrome
Short philtrum, High palate, Abnormal distal phalanx morphology of finger, Everted lower lip verm... ORPHA:1387
Antley-Bixler Syndrome
Long philtrum, Abnormal rib morphology, Hypoplasia of the zygomatic bone, Cleft palate, Short nos... ORPHA:83
Acrocraniofacial Dysostosis
Abnormality of the outer ear, Short philtrum, Craniosynostosis, Conductive hearing impairment, Se... OMIM:201050
Alpha-Thalassemia/Mental Retardation Syndrome, Chromosome 16-Related
High palate, Clinodactyly, Long philtrum, Triangular nasal tip, Microtia, Wide nasal bridge, Macr... OMIM:141750
Fibular Aplasia-Complex Brachydactyly Syndrome
Synostosis of carpal bones, Brachydactyly, Abnormal thumb morphology, Abnormality of the ulna, Ab... ORPHA:2639
Neurodevelopmental Disorder With Hypotonia, Neonatal Respiratory Insufficiency, And Thermodysregulation
Tracheomalacia, Low-set ears, Depressed nasal bridge, Brachycephaly, Flat occiput, Neonatal respi... OMIM:618797
Spondyloepimetaphyseal Dysplasia, Missouri Type
Genu varum, Metaphyseal irregularity, Knee osteoarthritis, Tibial bowing, Flared metaphysis, Shor... ORPHA:93356
Intellectual Developmental Disorder With Speech Delay, Autism, And Dysmorphic Facies
Prominent occiput, Short philtrum, Plagiocephaly, Dolichocephaly, Low-set ears, Depressed nasal r... OMIM:618672
Intellectual Developmental Disorder, Autosomal Dominant 23
Long philtrum, Drooling, Low-set ears, Bulbous nose, Sandal gap, Wide nasal bridge, Micrognathia,... OMIM:615761
Osteosclerosis-Developmental Delay-Craniosynostosis Syndrome
Craniosynostosis, Increased bone mineral density, Broad jaw, Thickened calvaria, Brachycephaly, F... ORPHA:178377
Osteopetrosis, Autosomal Dominant 2
Fractures of the long bones, Recurrent fractures, Hip osteoarthritis, Generalized osteosclerosis,... OMIM:166600
Otopalatodigital Syndrome, Type Ii
Short thumb, Micrognathia, Bulbous tips of toes, Cleft palate, Narrow mouth, Irregular metacarpal... OMIM:304120
Chromosome 3Pter-P25 Deletion Syndrome
High palate, Broad nasal tip, Anteverted nares, Trigonocephaly, Long philtrum, Low-set ears, Tape... OMIM:613792
Non-Syndromic Bicoronal Craniosynostosis
Brachydactyly, Midface retrusion, Brachycephaly, Metacarpal synostosis, Hearing impairment ORPHA:35099
Ring Chromosome 8 Syndrome
Abnormal palate morphology, Round ear, Deviation of finger, Frontal bossing, Anteverted nares, Sh... ORPHA:1450
Pde4D Haploinsufficiency Syndrome
Long philtrum, Cone-shaped epiphysis, Micrognathia, Mandibular prognathia, Short toe, Thin upper ... ORPHA:439822
Thanatophoric Dysplasia Type 2
Brachydactyly, Micromelia, Cloverleaf skull, Depressed nasal bridge, Frontal bossing, Abnormality... ORPHA:93274
Orofacial Cleft 5
Cleft upper lip, Cleft palate OMIM:608874
Orofacial Cleft 6, Susceptibility To
Cleft upper lip, Cleft palate OMIM:608864
Orofacial Cleft 1
Cleft upper lip, Cleft palate OMIM:119530
Simpson-Golabi-Behmel Syndrome, Type 2
Clinodactyly, Tapered finger, Thin upper lip vermilion, Cleft palate, Short nose, High palate, Re... OMIM:300209
Orofacial Cleft 10
Unilateral cleft palate, Unilateral cleft lip OMIM:613705
Cornelia De Lange Syndrome 5
High palate, Toe syndactyly, Broad nasal tip, Anteverted nares, Long philtrum, Hearing impairment... OMIM:300882
Skeletal Dysplasia, Mild, With Joint Laxity And Advanced Bone Age
Brachydactyly, Finger joint hypermobility, Anteverted nares, Long philtrum, 2-3 toe syndactyly, J... OMIM:618870
Spondylometaphyseal Dysplasia, A4 Type
Short palm, Micromelia, Flared, irregular rib ends, Limitation of joint mobility, Coxa vara ORPHA:168555
Craniosynostosis And Dental Anomalies
Lambdoidal craniosynostosis, Clinodactyly, Craniosynostosis, Delayed eruption of teeth, Coronal c... OMIM:614188
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1
Sinusitis, Pneumonia, Low-set ears, Micrognathia, Macroglossia, Bronchiectasis, Depressed nasal b... OMIM:242860
Vertical Talus, Congenital
Equinus calcaneus, Calcaneovalgus deformity, Arthritis, Rocker bottom foot OMIM:192950
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia
Low-set ears, Depressed nasal ridge, Rhizomelia, Metaphyseal cupping of proximal phalanges, 11 pa... OMIM:300863
Agenesis Of The Corpus Callosum With Peripheral Neuropathy
High palate, Restrictive ventilatory defect, Flexion contracture, 2-3 toe syndactyly, Tapered fin... OMIM:218000
Camptodactyly Syndrome, Guadalajara Type 1
Open bite, Abnormality of dental eruption, Mandibular prognathia, Hallux valgus, Short toe, Short... ORPHA:1327
Alpha-Thalassemia/Mental Retardation Syndrome, X-Linked
Clinodactyly, Coxa valga, Low-set ears, Sensorineural hearing impairment, U-Shaped upper lip verm... OMIM:301040
Congenital Disorder Of Glycosylation, Type Iie
Narrow mouth, Low-set ears, Overlapping fingers, Micrognathia, Adducted thumb, Short nose, Smooth... OMIM:608779
Myopathy, Areflexia, Respiratory Distress, And Dysphagia, Early-Onset
High palate, Restrictive ventilatory defect, Abnormal motor nerve conduction velocity, Respirator... OMIM:614399
Gillessen-Kaesbach-Nishimura Syndrome
Short long bone, Flexion contracture, Low-set ears, Underdeveloped nasal alae, Convex nasal ridge... OMIM:263210
Robinow Syndrome, Autosomal Recessive 2
Brachydactyly, Clinodactyly, Broad nasal tip, Long philtrum, Low-set ears, Wide nasal bridge, Mic... OMIM:618529
Palatopharyngeal Incompetence
Cleft palate, Velopharyngeal insufficiency OMIM:167500
Pseudoachondroplasia
Genu varum, Flared femoral metaphysis, Irregular carpal bones, Metaphyseal widening, Genu valgum,... OMIM:177170
Rheumatoid Factor-Negative Polyarticular Juvenile Idiopathic Arthritis
Uveitis, Hip osteoarthritis, Flexion contracture, Joint stiffness, Knee osteoarthritis, Synovial ... ORPHA:85408
Fibrochondrogenesis 1
Long philtrum, Fibular hypoplasia, Posterior vertebral hypoplasia, Clinodactyly of the 5th finger... OMIM:228520
Metaphyseal Chondrodysplasia, Kaitila Type
Finger joint hypermobility, Metaphyseal irregularity, Delayed proximal femoral epiphyseal ossific... OMIM:250230
Ankyloblepharon Filiforme Adnatum-Imperforate Anus Syndrome
Tooth agenesis, Cleft palate, Non-midline cleft lip ORPHA:1074
Thanatophoric Dysplasia Type 1
Bowing of the long bones, Brachydactyly, Joint stiffness, Short greater sciatic notch, Femoral bo... ORPHA:1860
9q subtelomeric deletion syndrome
Protruding tongue DECIPHER:52
Autosomal Dominant Otospondylomegaepiphyseal Dysplasia
Abnormal metacarpal morphology, Osteoarthritis ORPHA:166100
Desbuquois Dysplasia 1
Genu varum, Broad first metatarsal, Sandal gap, Broad femoral neck, Osteoporosis, Short 1st metac... OMIM:251450
Spondylometaphyseal Dysplasia With Corneal Dystrophy
Brachydactyly, Anteverted nares, Metaphyseal widening, Short ribs, Squared iliac bones, Death in ... OMIM:618961
Aminopterin Syndrome Sine Aminopterin
Brachydactyly, High palate, Clinodactyly, Low-set ears, Oligodontia, Syndactyly, Short thumb, Mic... OMIM:600325
Chromosome 16P13.3 Duplication Syndrome
Low-set ears, Bulbous nose, Tapered finger, Short phalanx of finger, Midface retrusion, Long fing... OMIM:613458
Hemophilia A
Osteoarthritis, Joint hemorrhage OMIM:306700
Stuve-Wiedemann Syndrome 1
Smooth tongue, Osteoporosis, Micrognathia, Short tibia, Wide nasal base, Short nose, Bowing of th... OMIM:601559
Spondyloepiphyseal Dysplasia With Atlantoaxial Instability
Joint laxity, Respiratory failure, Tongue fasciculations, Hypoplasia of the capital femoral epiph... OMIM:600561
Short Stature, Amelogenesis Imperfecta, And Skeletal Dysplasia With Scoliosis
Pierre-Robin sequence, Amelogenesis imperfecta, High palate, Advanced ossification of carpal bone... OMIM:618363
Potocki-Shaffer Syndrome
Brachydactyly, Short philtrum, 2-5 finger cutaneous syndactyly, Wormian bones, Underdeveloped nas... OMIM:601224
Mental Retardation, X-Linked 91
High palate, Clinodactyly, Short 5th finger, Short nose, Small hand, Macrodontia, Short foot OMIM:300577
Dracunculiasis
Flexion contracture, Arthritis, Recurrent cutaneous abscess formation, Limitation of joint mobili... ORPHA:231
Microcephalic Osteodysplastic Primordial Dwarfism Types I And Iii
Prominent occiput, Abnormal distal phalanx morphology of finger, Long nose, Bifid uvula, Clinodac... ORPHA:2636
Crouzon Syndrome-Acanthosis Nigricans Syndrome
Brachydactyly, Abnormal palate morphology, Conductive hearing impairment, Convex nasal ridge, Cho... ORPHA:93262
Platyspondylic Lethal Skeletal Dysplasia, Torrance Type
Hypoplastic ischia, Hypoplastic pubic bone, Short ribs, Thin ribs, Decreased cranial base ossific... OMIM:151210
Vitamin D-Dependent Rickets, Type 2A
Fibular bowing, Rickets, Bowing of the legs, Bulging of the costochondral junction, Enamel hypopl... OMIM:277440
Mesomelic Dysplasia, Nievergelt Type
Genu varum, Abnormality of the ulna, Finger syndactyly, Dolichocephaly, Clinodactyly of the 5th f... ORPHA:2633
14Q11.2 Microdeletion Syndrome
Narrow mouth, High palate, Toe syndactyly, Toe clinodactyly, Long philtrum, Everted lower lip ver... ORPHA:261120
Acrocapitofemoral Dysplasia
Genu varum, Cone-shaped metacarpal epiphyses, Abnormal femoral neck morphology, Short palm, Flare... ORPHA:63446
Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly
Brachydactyly, High palate, Bowing of the long bones, Agenesis of permanent teeth, Fused teeth, S... OMIM:614091
Pyknoachondrogenesis
Abnormal intramembranous ossification, Hypoplastic ischia, Horizontal ribs, Short long bone, Apla... ORPHA:3003
Ankyloblepharon Filiforme Adnatum And Cleft Palate
Cleft upper lip, Cleft palate OMIM:106250
Ulna Hypoplasia-Intellectual Disability Syndrome
Hypoplasia of the ulna, Joint stiffness, Hypoplasia of the radius, Metatarsus adductus, Micromeli... ORPHA:2249
Ceroid Lipofuscinosis, Neuronal, 10
Low-set ears, Respiratory failure, Wide nasal bridge, Respiratory insufficiency, Premature closur... OMIM:610127
Widow'S Peak Syndrome
Arthralgia/arthritis, Recurrent patellar dislocation, Hip osteoarthritis OMIM:314570
Hypochondroplasia
Brachydactyly, Genu varum, Abnormality of pelvic girdle bone morphology, Limited elbow extension,... OMIM:146000
Lujan-Fryns Syndrome
Brachydactyly, Short philtrum, High palate, Camptodactyly of finger, Low-set ears, Micrognathia, ... ORPHA:776
Desmosterolosis
Narrow mouth, Large earlobe, Bifid uvula, Increased bone mineral density, Low-set ears, Intestina... ORPHA:35107
Otospondylomegaepiphyseal Dysplasia, Autosomal Dominant
Premature osteoarthritis OMIM:184840
Crouzon Syndrome
Multiple suture craniosynostosis, Conductive hearing impairment, Convex nasal ridge, Choanal atre... ORPHA:207
Mesomelic Dwarfism-Cleft Palate-Camptodactyly Syndrome
Bowing of the long bones, Abnormal hip bone morphology, Abnormality of epiphysis morphology, Meso... ORPHA:2631
Otospondylomegaepiphyseal Dysplasia
Bifid uvula, Abnormal pelvis bone morphology, Sandal gap, Flared femoral metaphysis, Micrognathia... ORPHA:1427
Hyperekplexia 4
High palate, Distal arthrogryposis, Flexion contracture, Respiratory failure, Adducted thumb, Tal... OMIM:618011
Cleft Palate-Short Stature-Vertebral Anomalies Syndrome
Micrognathia, Low-set, posteriorly rotated ears, Thin upper lip vermilion, Anteverted nares, Clef... ORPHA:2015
Auriculocondylar Syndrome 2
Narrow mouth, Apnea, Cleft at the superior portion of the pinna, Low-set ears, Overfolding of the... OMIM:614669
Microcephalic Osteodysplastic Primordial Dwarfism Type Ii
Brachydactyly, Abnormality of epiphysis morphology, Low-set ears, Underdeveloped nasal alae, Clin... ORPHA:2637
Sandestig-Stefanova Syndrome
High palate, Clinodactyly, EEG abnormality, Underdeveloped tragus, Prominent metopic ridge, Low-s... OMIM:618804
Ruvalcaba Syndrome
Narrow mouth, Synostosis of carpal bones, Brachydactyly, Short metacarpal, Clinodactyly of the 5t... ORPHA:3121
Florid Cemento-Osseous Dysplasia
Abnormality of the maxilla, Abnormal trabecular bone morphology, Abnormality of primary teeth, Ab... ORPHA:83451
Multiple Epiphyseal Dysplasia Type 4
Acromicria, Abnormality of forearm bone, Broad femoral neck, Short thumb, Delayed femoral head os... ORPHA:93307
Hyperphosphatasia With Mental Retardation Syndrome 6
Large earlobe, High palate, Clinodactyly, Shortening of all distal phalanges of the fingers, Oste... OMIM:616809
Larsen-Like Syndrome
Absent nasal bridge, Recurrent otitis media, Bipartite calcaneus, Low-set ears, Joint laxity, Cli... OMIM:608545
Pfeiffer Syndrome Type 1
Broad hallux phalanx, High palate, Toe syndactyly, Finger syndactyly, Short palm, Low-set ears, A... ORPHA:93258
Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 2
Short philtrum, Plagiocephaly, Osteopenia, Low-set ears, Bulbous nose, Open mouth, Tapered finger... OMIM:616801
Otopalatodigital Syndrome Type 1
Sandal gap, Short thumb, Cleft palate, Synostosis of carpal bones, Bowing of the long bones, Incr... ORPHA:90650
Spondyloepimetaphyseal Dysplasia Congenita, Strudwick Type
Abnormal respiratory system physiology, Aplasia/hypoplasia involving bones of the extremities, Hy... ORPHA:93346
Hemophilia B
Osteoarthritis, Joint hemorrhage OMIM:306900
Isolated Congenital Hypoglossia/Aglossia
Temporomandibular joint ankylosis, Micrognathia, Dyspnea, Microglossia, Aplasia/Hypoplasia of fin... ORPHA:141152
Oculodentodigital Dysplasia, Autosomal Recessive
Long nose, Long philtrum, Underdeveloped nasal alae, Narrow nose, Micrognathia, Small hand, Broad... OMIM:257850
Congenital Osteogenesis Imperfecta-Microcephaly-Cataracts Syndrome
Decreased calvarial ossification, Recurrent fractures, Abnormal rib morphology, Micromelia, Low-s... ORPHA:2772
Acromesomelic Dysplasia, Grebe Type
Synostosis of carpal bones, Bowing of the long bones, Brachydactyly, Joint stiffness, Fibular hyp... ORPHA:2098
Osteogenesis Imperfecta, Type X
Bowing of the long bones, Osteopenia, Joint laxity, Thin ribs, Generalized joint laxity, Microgna... OMIM:613848
Metaphyseal Chondrodysplasia, Jansen Type
Bowing of the long bones, Short long bone, Osteopenia, Hearing impairment, Clinodactyly of the 5t... OMIM:156400
Kyphomelic Dysplasia
Micrognathia, Micromelia, Cleft palate, Cleft upper lip, Flared metaphysis, Ulnar bowing, Short h... OMIM:211350
Congenital Laryngomalacia
Cleft palate, Non-midline cleft lip ORPHA:2373
Orofaciodigital Syndrome Type 4
Abnormality of the outer ear, Genu varum, Bifid uvula, Abnormality of the tongue, High, narrow pa... ORPHA:2753
Short Stature, Optic Nerve Atrophy, And Pelger-Huet Anomaly
Brachydactyly, Long philtrum, Sandal gap, Micromelia, Brachycephaly, Thin vermilion border, Optic... OMIM:614800
Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency
Clinodactyly, EEG abnormality, Widely spaced teeth, Macroglossia, Mandibular prognathia, Short no... ORPHA:369891
Rhizomelic Chondrodysplasia Punctata, Type 1
Flexion contracture, Rhizomelia, Epiphyseal stippling, Sensorineural hearing impairment, Microgna... OMIM:215100
Cornelia De Lange Syndrome 2
Brachydactyly, High palate, Clinodactyly, Anteverted nares, Micrognathia, Proximal placement of t... OMIM:300590
Ritscher-Schinzel Syndrome 2
Short philtrum, Clinodactyly, Protruding tongue, Broad hallux, Short distal phalanx of finger, Ca... OMIM:300963
Hydrolethalus
Bifid uvula, Low-set ears, Unilateral cleft lip, Micrognathia, Submucous cleft hard palate, Micro... ORPHA:2189
Neurodevelopmental Disorder With Structural Brain Anomalies And Dysmorphic Facies
Clinodactyly, Unilambdoid synostosis, Plagiocephaly, Long philtrum, Wide nasal bridge, Micrognath... OMIM:618577
Potocki-Shaffer Syndrome
Short philtrum, Broad nasal tip, Underdeveloped nasal alae, Decreased skull ossification, Microgn... ORPHA:52022
Immunodeficiency 61
Recurrent sinusitis, Recurrent otitis media, Arthritis OMIM:300310
Spondyloepimetaphyseal Dysplasia, Faden-Alkuraya Type
Craniosynostosis, Osteopenia, Skull asymmetry, Short femoral neck, Low-set ears, Short metacarpal... OMIM:616723
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type
Short philtrum, Short palm, Low-set ears, Depressed nasal ridge, Rhizomelia, Thin ribs, Metaphyse... ORPHA:163966
Myopathy, Congenital, Bailey-Bloch
High palate, Restrictive ventilatory defect, Flexion contracture, Low-set ears, Conductive hearin... OMIM:255995
Subaortic Stenosis, Membranous
Subvalvular aortic stenosis OMIM:271950
Phocomelia, Schinzel Type
High, narrow palate, Micrognathia, Micromelia, Aplasia of the ulna, Protruding ear, Cleft palate,... ORPHA:2879
Dermatoosteolysis, Kirghizian Type
Brachydactyly, Osteoarthritis, Abnormality of the metaphysis, Osteolysis, Tarsal synostosis, Kera... ORPHA:1657
Spondyloarthropathy, Susceptibility To, 1
Hip osteoarthritis, Sacroiliac arthritis, Inflammation of the large intestine, Oligoarthritis, Ps... OMIM:106300
Ehlers-Danlos Syndrome, Musculocontractural Type, 2
Narrow mouth, High palate, Long philtrum, Midface retrusion, Arachnodactyly, Adducted thumb, Tali... OMIM:615539
Edinburgh Malformation Syndrome
Narrow mouth, Slender finger, Anteverted nares, Joint stiffness, Low-set ears, Micrognathia, Choa... ORPHA:1895
Fontaine Progeroid Syndrome
Long philtrum, Microdontia, Everted lower lip vermilion, High, narrow palate, Micrognathia, Absen... OMIM:612289
Sweeney-Cox Syndrome
Underdeveloped nasal alae, Micrognathia, Cleft palate, Narrow mouth, High palate, Cutaneous synda... OMIM:617746
Treacher-Collins Syndrome
Multiple enchondromatosis, Open bite, Micrognathia, Retrognathia, Hypoplasia of the zygomatic bon... ORPHA:861
Short-Rib Thoracic Dysplasia 18 With Polydactyly
Brachydactyly, Hypoplastic ischia, Decreased calvarial ossification, Missing ribs, 2-3 toe syndac... OMIM:617866
Muenke Syndrome
Plagiocephaly, Carpal synostosis, Short palm, Coronal craniosynostosis, Sensorineural hearing imp... ORPHA:53271
3P25.3 Microdeletion Syndrome
Abnormality of the outer ear, Acromesomelia, Tapered finger, High, narrow palate, Micrognathia, M... ORPHA:435638
Chromosome 16P12.2-P11.2 Deletion Syndrome, 7.1- To 8.7-Mb
Brachydactyly, High palate, Clinodactyly, Low-set ears, Bulbous nose, Open mouth, Micrognathia, F... OMIM:613604
Hypophosphatemic Rickets, X-Linked Dominant
Bowing of the legs, Metaphyseal irregularity, Trapezoidal distal femoral condyles, Tibial bowing,... OMIM:307800
Cornelia De Lange Syndrome 1
Long philtrum, Clinodactyly of the 5th finger, Widely spaced teeth, High, narrow palate, Microgna... OMIM:122470
Short-Rib Thoracic Dysplasia 20 With Polydactyly
Horizontal ribs, Decreased calvarial ossification, Fibular hypoplasia, Esophageal diverticulum, H... OMIM:617925
Schwartz-Jampel Syndrome
Long philtrum, Trismus, Everted lower lip vermilion, Osteoporosis, Micrognathia, Abnormal rib mor... ORPHA:800
Atelosteogenesis, Type I
Vertebral hypoplasia, 11 pairs of ribs, Micrognathia, Cleft palate, Short nose, Brachydactyly, Sh... OMIM:108720
Developmental And Epileptic Encephalopathy 73
Flexion contracture, Sensorineural hearing impairment, Midface retrusion, Narrow nasal bridge, Hi... OMIM:618379
Osteoglophonic Dysplasia
Long philtrum, Pseudoarthrosis, Cloverleaf skull, Mandibular prognathia, Short nose, Bowing of th... OMIM:166250
Campomelia, Cumming Type
Brachydactyly, Bowing of the long bones, Dolichocephaly, Abnormal rib morphology, Micromelia, Abn... ORPHA:1318
German Syndrome
Hearing abnormality, High palate, Dolichocephaly, Open mouth, Everted lower lip vermilion, Wide n... ORPHA:2077
Lethal Kniest-Like Dysplasia
Brachydactyly, Anterior rib cupping, Low-set ears, Hypoplastic vertebral bodies, Short ribs, Flar... ORPHA:2347
Recombinant Chromosome 8 Syndrome
Low-set ears, Abnormality of the dentition, Hearing impairment, Clinodactyly of the 5th finger, T... OMIM:179613
Intellectual Disability-Hypoplastic Corpus Callosum-Preauricular Tag Syndrome
Narrow mouth, Recurrent pneumonia, Abnormal palate morphology, Micrognathia, Protruding ear, Camp... ORPHA:1495
Chondrodysplasia-Disorder Of Sex Development Syndrome
Abnormality of pelvic girdle bone morphology, Short metacarpal, Short phalanx of finger, Micromel... ORPHA:1422
Joubert Syndrome 1
Clinodactyly, Plagiocephaly, Neonatal breathing dysregulation, Postaxial foot polydactyly, Low-se... OMIM:213300
Cleft Palate, Isolated
Anterior open-bite malocclusion, Increased overbite, Cleft palate, Gingival overgrowth OMIM:119540
Momo Syndrome
Wide nasal base, High palate, Congenital pseudoarthrosis of the clavicle, Long philtrum, Delayed ... ORPHA:2563
Vitamin K Antagonist Embryofetopathy
Brachydactyly, Epiphyseal stippling, Microtia, Macroglossia, Choanal atresia, Short distal phalan... ORPHA:1914
Terminal Osseous Dysplasia
Brachydactyly, Toe clinodactyly, Multiple joint contractures, Camptodactyly of finger, Low-set ea... OMIM:300244
Cleft Palate-Lateral Synechia Syndrome
Narrow mouth, Everted lower lip vermilion, Oral synechia, Cleft palate ORPHA:2016
Maxillonasal Dysplasia, Binder Type
Large earlobe, Short distal phalanx of finger, Depressed nasal bridge, Short columella, Dental ma... OMIM:155050
Ophthalmoplegia, Progressive, With Scrotal Tongue And Mental Deficiency
Furrowed tongue OMIM:165150
Smith-Magenis Syndrome
Brachydactyly, Abnormality of the outer ear, EEG abnormality, Short palm, Velopharyngeal insuffic... OMIM:182290
Hemophilia A With Vascular Abnormality
Osteoarthritis, Joint hemorrhage OMIM:306800
Endocrine-Cerebroosteodysplasia
Brachydactyly, Cleft upper lip, Low-set ears, Sandal gap, Preaxial polydactyly, Wide nasal bridge... OMIM:612651
Vitamin D Hydroxylation-Deficient Rickets, Type 1B
Bowing of the legs, Metaphyseal irregularity, Bulging epiphyses, Bulging of the costochondral jun... OMIM:600081
Microphthalmia With Limb Anomalies
Fibular hypoplasia, Sandal gap, Retrognathia, Cleft palate, Short nose, Hip dislocation, High pal... OMIM:206920
Otopalatodigital Syndrome, Type I
Prominent occiput, Sandal gap, Abnormality of the fifth metatarsal bone, Bulbous tips of toes, Cl... OMIM:311300
Spondyloepimetaphyseal Dysplasia With Multiple Dislocations
Flat capital femoral epiphysis, Genu varum, Slender finger, Premature osteoarthritis, Metaphyseal... ORPHA:93360
Leukocyte Adhesion Deficiency Type Ii
Recurrent pneumonia, Recurrent otitis media, Small earlobe, Depressed nasal ridge, Conductive hea... ORPHA:99843
Maxillonasal Dysplasia
Open bite, Depressed nasal ridge, Short columella, Aplasia/Hypoplasia of the distal phalanges of ... ORPHA:1248
Short-Rib Thoracic Dysplasia 16 With Or Without Polydactyly
Brachydactyly, Dolichocephaly, Low-set ears, Cone-shaped epiphyses of the phalanges of the hand, ... OMIM:617102
Aase-Smith Syndrome
Slender finger, Abnormal hip bone morphology, Joint stiffness, Multiple joint contractures, Trism... ORPHA:916
Cortical Blindness, Retardation, And Postaxial Polydactyly
Frontal bossing, Microretrognathia, Long philtrum, Short nose OMIM:218010
Deafness, Autosomal Dominant 34, With Or Without Inflammation
Arthritis, Conjunctivitis OMIM:617772
Epidermolysis Bullosa, Late-Onset Localized Junctional, With Mental Retardation
Short philtrum, Abnormality of the dentition, Thick upper lip vermilion, Thin upper lip vermilion... OMIM:226440
Vitamin D Hydroxylation-Deficient Rickets, Type 1A
Bowing of the legs, Metaphyseal irregularity, Bulging epiphyses, Bulging of the costochondral jun... OMIM:264700
Hamamy Syndrome
Abnormality of the outer ear, Clinodactyly, Long philtrum, Tapered finger, Micrognathia, Hip dysp... OMIM:611174
Antley-Bixler Syndrome Without Genital Anomalies Or Disordered Steroidogenesis
Long philtrum, Flexion contracture, Choanal atresia, Ulnar bowing, Malar flattening, Brachycephal... OMIM:207410
17P13.3 Microduplication Syndrome
Narrow mouth, High palate, Low-set ears, Clinodactyly of the 5th finger, Congenital hip dislocati... ORPHA:217385
Chung-Jansen Syndrome
Short philtrum, High palate, Clinodactyly, Anteverted nares, Long philtrum, Tapered finger, Micro... OMIM:617991
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 1
Pierre-Robin sequence, High palate, Short 5th metacarpal, Long philtrum, Low-set ears, Sandal gap... OMIM:617877
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 2
High palate, Pneumonia, Low-set ears, Depressed nasal bridge, Retrognathia, Anteverted nares, Sho... OMIM:614069
Temtamy Preaxial Brachydactyly Syndrome
Partial duplication of the proximal phalanx of the 3rd finger, Severe sensorineural hearing impai... ORPHA:363417
Gómez-López-Hernández Syndrome
Thin vermilion border, Low-set ears, Midface retrusion, Turricephaly, Brachycephaly, Anteverted n... ORPHA:1532
Enthesitis-Related Juvenile Idiopathic Arthritis
Hip osteoarthritis, Limited mobility of proximal interphalangeal joint, Knee osteoarthritis, Abno... ORPHA:85438
Carpenter Syndrome 1
Genu varum, Clinodactyly of the 5th finger, Complete duplication of proximal phalanx of the thumb... OMIM:201000
Femoral-Facial Syndrome
Abnormality of pelvic girdle bone morphology, Hip dysplasia, Long philtrum, Low-set ears, Preaxia... ORPHA:1988
Intellectual Developmental Disorder, Autosomal Dominant 26
Narrow mouth, Short philtrum, Thick vermilion border, Anteverted nares, Low-set ears, Wide nasal ... OMIM:615834
Myalgia-Eosinophilia Syndrome Associated With Tryptophan
Limitation of joint mobility, Arthritis ORPHA:2582
8Q12 Microduplication Syndrome
Narrow mouth, Abnormal cranial nerve morphology, Long philtrum, Sensorineural hearing impairment,... ORPHA:228399
Even-Plus Syndrome
High palate, Depressed nasal ridge, Hypodontia, Dysplasia of the femoral head, Microtia, Anal atr... OMIM:616854
Hallermann-Streiff Syndrome
Tracheomalacia, Underdeveloped nasal alae, Narrow nose, Everted lower lip vermilion, High, narrow... OMIM:234100
Distal Monosomy 10Q
Abnormality of the outer ear, Clinodactyly, Sandal gap, Clinodactyly of the 5th finger, Tapered f... ORPHA:96148
Intellectual Disability-Obesity-Brain Malformations-Facial Dysmorphism Syndrome
Clinodactyly of the 5th finger, Tapered finger, Wide nasal bridge, Large fleshy ears, Abnormal pi... ORPHA:352530
Dyssegmental Dysplasia, Silverman-Handmaker Type
Narrow mouth, Bowing of the long bones, Wide nasal bridge, Micrognathia, Malar flattening, Poster... OMIM:224410
Spondylometaphyseal Dysplasia, East African Type
Brachydactyly, Genu varum, Metaphyseal spurs, Rounded epiphyses, Short long bone, Metaphyseal wid... OMIM:611702
Achondroplasia
Hypoxemia, Hip joint hypermobility, Central sleep apnea, Narrow greater sciatic notch, Brachydact... ORPHA:15
Cleft Palate With Or Without Ankyloglossia, X-Linked
Bifid uvula, Ankyloglossia, Cleft palate OMIM:303400
Chromosome 5P13 Duplication Syndrome
Short philtrum, High palate, Craniosynostosis, Low-set ears, Bulbous nose, Wide nasal bridge, Fro... OMIM:613174
Femur-Fibula-Ulna Complex
Abnormality of the ulna, Finger syndactyly, Abnormality of femur morphology, Micromelia, Short hu... ORPHA:2019
Cebalid Syndrome
High palate, Plagiocephaly, Dolichocephaly, Low-set ears, Depressed nasal ridge, Hearing impairme... OMIM:618774
Whistling Face Syndrome, Recessive Form
Narrow mouth, High palate, Long philtrum, Trismus, Elbow flexion contracture, Underdeveloped nasa... OMIM:277720
Otofacioosseous-Gonadal Syndrome
Carpal synostosis, Wormian bones, Low-set ears, Underdeveloped nasal alae, Sensorineural hearing ... OMIM:601976
Ectrodactyly-Cleft Palate Syndrome
Split hand, Cleft palate OMIM:129830
Intellectual Developmental Disorder With Dysmorphic Facies, Seizures, And Distal Limb Anomalies
High palate, Flexion contracture, Long philtrum, Low-set ears, Tapered finger, Wide nasal bridge,... OMIM:617452
Congenital Neuronal Ceroid Lipofuscinosis
Low-set ears, Respiratory failure, Wide nasal bridge, Central sleep apnea, EEG with burst suppres... ORPHA:168486
Multicentric Osteolysis, Nodulosis, And Arthropathy
Metatarsal osteolysis, Carpal osteolysis, Metacarpal osteolysis, Osteoporosis, Micrognathia, Prot... OMIM:259600
Diarrhea 5, With Tufting Enteropathy, Congenital
Arthritis OMIM:613217
Metaphyseal Chondrodysplasia, Schmid Type
Genu varum, Proximal femoral metaphyseal irregularity, Hip dysplasia, Bowing of the legs, Widened... ORPHA:174
Pseudodiastrophic Dysplasia
Rhizomelia, Hypoplasia of the odontoid process, Micrognathia, Midface retrusion, Frontal bossing,... OMIM:264180
Brachydactyly-Mesomelia-Intellectual Disability-Heart Defects Syndrome
Brachydactyly, Abnormal palate morphology, Convex nasal ridge, Micrognathia, Tooth agenesis, Meso... ORPHA:1277
Developmental Malformations-Deafness-Dystonia Syndrome
Sensorineural hearing impairment, Hypoplastic scapulae, Macroglossia, Micromelia, Oral cleft, Dea... ORPHA:79107
Gomez-Lopez-Hernandez Syndrome
High palate, Wormian bones, Craniosynostosis, Anteverted nares, Skull asymmetry, Low-set ears, Mi... OMIM:601853
Uruguay Faciocardiomusculoskeletal Syndrome
Wide nose, Dislocation of toes, Low-set ears, Brachyturricephaly, Everted lower lip vermilion, Co... OMIM:300280
Craniosynostosis 2
Brachydactyly, Craniosynostosis, Cleft soft palate, Triphalangeal thumb, Supernumerary tooth, Fro... OMIM:604757
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 3
High palate, Hypoplasia of the ulna, Osteopenia, Long philtrum, Low-set ears, EEG abnormality, Op... OMIM:615398
Stickler Syndrome Type 1
Long philtrum, Abnormality of epiphysis morphology, Sensorineural hearing impairment, Abnormality... ORPHA:90653
Multicentric Reticulohistiocytosis
Arthritis ORPHA:139436
Aminopterin/Methotrexate Embryofetopathy
Finger syndactyly, Non-midline cleft lip, Aplasia/Hypoplasia of the thumb, Wide nasal bridge, Mic... ORPHA:1908
Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 1
Low-set ears, Slender nose, Micrognathia, Decreased motor nerve conduction velocity, Macrotia, Sm... OMIM:615419
Codas Syndrome
Brachydactyly, Abnormality of pelvic girdle bone morphology, Delayed eruption of teeth, Abnormali... ORPHA:1458
Stüve-Wiedemann Syndrome
Smooth tongue, Trismus, Osteoporosis, Micromelia, Metaphyseal widening, Genu valgum, Bowing of th... ORPHA:3206
Mesomelic Limb Shortening And Bowing
Bowing of the legs, Bowing of the arm, Mesomelic leg shortening, Micrognathia, Mesomelic arm shor... OMIM:249710
Ehlers-Danlos Syndrome, Classic-Like, 2
Shoulder dislocation, Osteoarthritis, Osteoporosis, Hallux valgus, Knee dislocation, Hip dislocation OMIM:618000
Saethre-Chotzen Syndrome
Long nose, Clinodactyly of the 5th finger, Prominent crus of helix, Narrow nose, Oxycephaly, Hall... OMIM:101400
Degcags Syndrome
Long philtrum, Tracheomalacia, Short thumb, Micrognathia, Intestinal atresia, Retrognathia, Genu ... OMIM:619488
Stevenson-Carey Syndrome
Narrow mouth, Pierre-Robin sequence, Anteverted nares, Hip dysplasia, Low-set ears, Underdevelope... OMIM:611961
Radio-Renal Syndrome
Brachydactyly, Chylothorax, Short palm, Respiratory failure, Hypoplasia of the radius, Pleural ef... ORPHA:3015
Apert Syndrome
Bifid uvula, Rhizomelic arm shortening, Cervical C5/C6 vertebrae fusion, Mandibular prognathia, C... OMIM:101200
Kleefstra Syndrome Due To 9Q34 Microdeletion
Everted lower lip vermilion, Macroglossia, Midface retrusion, Short nose, Brachycephaly, Flat occ... ORPHA:96147
Pontocerebellar Hypoplasia, Type 1C
Respiratory insufficiency, Respiratory failure, Flexion contracture, Hearing impairment OMIM:616081
Spinocerebellar Ataxia-Dysmorphism Syndrome
Slender long bone, Dolichocephaly, Low-set, posteriorly rotated ears, Spina bifida occulta, Reduc... ORPHA:1185
Intellectual Disability-Hypotonic Facies Syndrome, X-Linked, 1
Clinodactyly, Tapered finger, Tented upper lip vermilion, Micrognathia, Macroglossia, Hypoplastic... OMIM:309580
Vitamin D-Dependent Rickets, Type 2B, With Normal Vitamin D Receptor
Bowing of the long bones, Genu varum, Metaphyseal irregularity, Bulging epiphyses, Sparse bone tr... OMIM:600785
Angelman Syndrome
EEG abnormality, Drooling, Widely spaced teeth, Macroglossia, Hypoplasia of the maxilla, Mandibul... OMIM:105830
Renal Dysplasia-Limb Defects Syndrome
Prominent occiput, Micrognathia, Aplasia of the ulna, Narrow mouth, High palate, Phocomelia, Shor... OMIM:266910
Autosomal Dominant Robinow Syndrome
Long philtrum, Open bite, Clinodactyly of the 5th finger, High, narrow palate, Micrognathia, Micr... ORPHA:3107
Otospondylomegaepiphyseal Dysplasia, Autosomal Recessive
Micrognathia, Cleft palate, Pierre-Robin sequence, Recurrent pneumonia, Premature osteoarthritis,... OMIM:215150
Martsolf Syndrome 1
Short philtrum, High palate, Broad nasal tip, Tracheomalacia, Short palm, Short metacarpal, Joint... OMIM:212720
Wieacker-Wolff Syndrome, Female-Restricted
Achilles tendon contracture, Anteverted nares, Flexion contracture, Long philtrum, Drooling, Rock... OMIM:301041
Impaired Intellectual Development And Distinctive Facial Features With Or Without Cardiac Defects
Clinodactyly, Plagiocephaly, Low-set ears, Bulbous nose, Open mouth, Everted lower lip vermilion,... OMIM:616789
Psoriasis 1, Susceptibility To
Psoriasiform dermatitis, Arthritis OMIM:177900
Osteogenesis Imperfecta
Prominent occiput, Fractures of the long bones, Abnormal hip bone morphology, Osteoporosis, Decre... ORPHA:666
Distal Trisomy 18Q
High palate, Dolichocephaly, Deviation of finger, Clinodactyly of the 5th finger, Carious teeth, ... ORPHA:1716
Neu-Laxova Syndrome
Prominent occiput, Bifid uvula, Trismus, Everted lower lip vermilion, Osteoporosis, Micrognathia,... ORPHA:2671
Eye Defects-Arachnodactyly-Cardiopathy Syndrome
Bowing of the long bones, Abnormal distal phalanx morphology of finger, Abnormal hip bone morphol... ORPHA:2725
Microcephaly, Facial Dysmorphism, Renal Agenesis, And Ambiguous Genitalia Syndrome
Bilateral talipes equinovarus, High palate, Low-set ears, Overlapping fingers, Preaxial polydacty... OMIM:618142
Craniofacial Dysplasia-Short Stature-Ectodermal Anomalies-Intellectual Disability Syndrome
Trigonocephaly, Low-set ears, Sleep apnea, Widely spaced teeth, Micrognathia, Depressed nasal bri... ORPHA:459061
2q33.1 deletion syndrome
High palate, Cleft palate DECIPHER:51
Mandibulofacial Dysostosis-Microcephaly Syndrome
Accessory oral frenulum, Abnormality of the outer ear, Large earlobe, Absent tragus, Underdevelop... ORPHA:79113
Cornelia De Lange Syndrome 4 With Or Without Midline Brain Defects
Long philtrum, Clinodactyly of the 5th finger, Thin upper lip vermilion, Cleft palate, Short nose... OMIM:614701
Opsismodysplasia
Brachydactyly, Hypoplastic ischia, Hypoplastic pubic bone, Joint stiffness, Abnormality of epiphy... ORPHA:2746
Laron Syndrome
Brachydactyly, Osteoarthritis, Short toe, Delayed skeletal maturation, Abnormality of the elbow ORPHA:633
Camptomelic Syndrome, Long-Limb Type
Micromelia, Bowing of the long bones OMIM:211990
Bullous Impetigo
Recurrent bacterial skin infections, Septic arthritis, Pustule ORPHA:36237
Melorheostosis
Joint stiffness, Increased bone mineral density, Ectopic ossification in muscle tissue, Bone pain... ORPHA:2485
Peroxisome Biogenesis Disorder 8A (Zellweger)
Epiphyseal stippling, Death in infancy, Glossoptosis OMIM:614876
Hypomandibular Faciocranial Dysostosis
Aplasia/Hypoplasia of the tongue, Narrow mouth, Trigonocephaly, Bifid uvula, Craniosynostosis, Lo... ORPHA:1790
Acromicric Dysplasia
Narrow mouth, Long philtrum, Short palm, Bulbous nose, Short metacarpal, Cone-shaped epiphysis, S... OMIM:102370
Nabais Sa-De Vries Syndrome, Type 1
Bulbous nose, Clinodactyly of the 5th finger, Optic nerve hypoplasia, Depressed nasal bridge, Sho... OMIM:618828
Spondyloepiphyseal Dysplasia-Brachydactyly And Distinctive Speech
Long philtrum, Hypoplastic iliac wing, Short toe, Brachydactyly, Flexion contracture, Short phala... OMIM:611717
Congenital Muscular Dystrophy, Ullrich Type
Slender finger, Abnormal palate morphology, Flexion contracture, Increased laxity of fingers, Lon... ORPHA:75840
Glycine Encephalopathy With Normal Serum Glycine
Trigonocephaly, Flexion contracture, Dolichocephaly, Low-set ears, Optic atrophy, Joint laxity, R... OMIM:617301
Frank-Ter Haar Syndrome
Broad nasal tip, Osteoporosis, Micrognathia, Protruding ear, Thin upper lip vermilion, Hip dyspla... OMIM:249420
Contractural Arachnodactyly, Congenital
Distal arthrogryposis, Crumpled ear, Micrognathia, Bowing of the long bones, High palate, Limited... OMIM:121050
9P13 Microdeletion Syndrome
High palate, Recurrent otitis media, Joint stiffness, Low-set ears, Abnormality of cartilage of e... ORPHA:324313
Progressive Spondyloepimetaphyseal Dysplasia-Short Stature-Short Fourth Metatarsals-Intellectual Disability Syndrome
Abnormal hip bone morphology, Clinodactyly of the 5th finger, Cone-shaped epiphysis, Tented upper... ORPHA:457395
Satb2-Associated Syndrome Due To A Chromosomal Rearrangement
Abnormality of the outer ear, Abnormal hip bone morphology, Long philtrum, Clinodactyly of the 5t... ORPHA:251028
Ear-Patella-Short Stature Syndrome
Abnormality of the outer ear, Bifid uvula, Clinodactyly of the 5th finger, Atresia of the externa... ORPHA:2554
Early-Onset Seizures-Distal Limb Anomalies-Facial Dysmorphism-Global Developmental Delay Syndrome
High palate, Toe syndactyly, Wide nose, Long philtrum, Low-set ears, Tapered finger, Flat occiput... ORPHA:505237
Trisomy 20P
Abnormal hip bone morphology, Microdontia, Everted lower lip vermilion, Micrognathia, Protruding ... ORPHA:261318
Microphthalmia With Cyst, Bilateral Facial Clefts, And Limb Anomalies
Cleft upper lip, Broad proximal phalanges of the hand, Low-set ears, Depressed nasal ridge, Brach... OMIM:607597
Auriculocondylar Syndrome
Bifid uvula, Question mark ear, Hamartoma of tongue, Micrognathia, Mandibular condyle aplasia, Cl... ORPHA:137888
49,Xxxxy Syndrome
Open bite, Clinodactyly of the 5th finger, Mandibular prognathia, Cleft palate, Hip dislocation, ... ORPHA:96264
Temple Syndrome
Short philtrum, High palate, Bifid uvula, Flexion contracture, Clinodactyly, Recurrent otitis med... OMIM:616222
Congenital Muscular Dystrophy With Intellectual Disability
Multiple joint contractures, Abnormality of the tongue muscle, Respiratory failure, Facial palsy,... ORPHA:370968
Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency
Bifid uvula, Long philtrum, 2-3 toe syndactyly, Postaxial foot polydactyly, Low-set ears, Intesti...