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Gene: Dyrk2 MGI:1330301

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Gene Summary

Name:
dual-specificity tyrosine phosphorylation regulated kinase 2
Synonyms:
1810038L18Rik

Order Alleles

IMPC Data Collections

IMPC Phenotype Summary

Significant
Not Significant
Not tested

View all our phenotype data below

Phenotypes

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

Phenotype System Allele Zyg Sex Life Stage P Value
decreased large unstained cell number Dyrk2em1(IMPC)Ics HET Early adult 1.31×10-06

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lacZ Expression

Expression data not available

Associated Images

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

X-ray

XRay Images Whole Body Dorso Ventral

10 Images

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X-ray

XRay Images Whole Body Lateral Orientation

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FCS thumbnail FCS
Immunophenotyping

Panel A FCS file(s)

6 Images

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FCS thumbnail FCS
Immunophenotyping

Panel B FCS file(s)

6 Images

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Human diseases caused by Dyrk2 mutations

The analysis uses data from IMPC, along with published data on other mouse mutants, in comparison to human disease reports in OMIM, Orphanet, and DECIPHER.

Phenotype comparisons summarize the similarity of mouse phenotypes with human disease phenotypes.

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

The table below shows human diseases predicted to be associated to Dyrk2 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Okt4 Epitope Deficiency
Abnormal T cell morphology OMIM:613949
Otopalatodigital Syndrome Type 1
Wide nasal bridge, Short distal phalanx of finger, Depressed nasal bridge, Synostosis of carpal b... ORPHA:90650
Brachydactyly, Type B1
Joint contracture of the hand, Broad thumb, Hypoplastic sacrum, Delayed cranial suture closure, C... OMIM:113000
Cleft Palate-Short Stature-Vertebral Anomalies Syndrome
Abnormal vertebral morphology, Anteverted nares, Micrognathia, Thin upper lip vermilion, Short ne... ORPHA:2015
Intellectual Developmental Disorder, X-Linked 91
Short 5th finger, Small hand, Clinodactyly, Macrodontia, Cubitus valgus, High palate, Short foot,... OMIM:300577
Pierre Robin Sequence With Facial And Digital Anomalies
Short distal phalanx of finger, Micrognathia, Easily subluxated first metacarpophalangeal joints,... OMIM:311895
Atelosteogenesis, Type Ii
Micrognathia, Increased intervertebral space, Talipes equinovarus, Short neck, Short greater scia... OMIM:256050
Osseous Heteroplasia, Progressive
Ankylosis, Limb undergrowth, Ectopic ossification in muscle tissue OMIM:166350
Chondrodysplasia With Joint Dislocations, Gpapp Type
Genu valgum, Micrognathia, Narrow mouth, Intervertebral space narrowing, Radial head subluxation,... OMIM:614078
Acromicric Dysplasia
Small hand, Fifth metacarpal with ulnar notch, Abnormal epiphysis morphology, Long philtrum, Thic... ORPHA:969
Pseudoachondroplasia
Delayed epiphyseal ossification, Hypoplasia of the odontoid process, Genu valgum, Wind-swept defo... ORPHA:750
Spondyloepiphyseal Dysplasia-Craniosynostosis-Cleft Palate-Cataracts-Intellectual Disability Syndrome
Micrognathia, Short neck, Abnormal bone ossification, Flattened epiphysis, High palate, Flat acet... ORPHA:163649
Larsen-Like Osseous Dysplasia-Short Stature Syndrome
Abnormal pelvic girdle bone morphology, Abnormal form of the vertebral bodies, Narrow mouth, Redu... ORPHA:2370
Kbg Syndrome
Underdeveloped nasal alae, Finger clinodactyly, Long philtrum, Macrodontia, Anteverted nares, Pro... ORPHA:2332
Multiple Synostoses Syndrome 2
Carpal synostosis, Humeroradial synostosis, Talipes equinovarus, Finger symphalangism, Brachydact... OMIM:610017
17Q21.31 Microduplication Syndrome
Abnormality of the dentition, Toe syndactyly, Sandal gap, Anteverted nares, Micrognathia, Short p... ORPHA:217340
Robin Sequence-Oligodactyly Syndrome
Finger aplasia, Abnormality of the dentition, Abnormal form of the vertebral bodies, Micrognathia... ORPHA:3104
Contractures, Pterygia, And Spondylocarpotarsal Fusion Syndrome 1B
Scoliosis, Talipes equinovarus, Short neck, Fused thoracic vertebrae, Antecubital pterygium, Tars... OMIM:618469
Maxillonasal Dysplasia
Depressed nasal bridge, Short distal phalanx of finger, Depressed nasal ridge, Tooth agenesis, Op... ORPHA:1248
Rhizomelic Syndrome, Urbach Type
Short distal phalanx of finger, Rhizomelia, Depressed nasal bridge, Abnormal epiphysis morphology... ORPHA:3098
Brachydactyly-Mesomelia-Intellectual Disability-Heart Defects Syndrome
Tooth agenesis, Abnormal shoulder morphology, Micrognathia, Abnormal palate morphology, Brachydac... ORPHA:1277
Mesomelic Limb Shortening And Bowing
Camptodactyly of finger, Mesomelic leg shortening, Micrognathia, Bowing of the arm, Mesomelic arm... OMIM:249710
Diaphanospondylodysostosis
Absent or minimally ossified vertebral bodies, Missing ribs, Short neck, Narrow pelvis bone, Clef... ORPHA:66637
Spondylocostal Dysostosis 1, Autosomal Recessive
Block vertebrae, Abnormal odontoid process morphology, Death in infancy, Kyphoscoliosis, Rib fusi... OMIM:277300
Maxillonasal Dysplasia, Binder Type
Depressed nasal bridge, Short distal phalanx of finger, Dental malocclusion, Short columella, Pat... OMIM:155050
Metatropic Dysplasia
Depressed nasal bridge, Scoliosis, Hypoplastic cervical vertebrae, Micromelia, Coarse metaphyseal... ORPHA:2635
Acromesomelic Dysplasia, Maroteaux Type
Depressed nasal bridge, Kyphosis, Abnormal form of the vertebral bodies, Vertebral wedging, Joint... ORPHA:40
Verheij Syndrome
Short 5th finger, Wide nasal bridge, Broad nasal tip, Clinodactyly, Long philtrum, Anteverted nar... OMIM:615583
Keratoconus Posticus Circumscriptus
Cleft upper lip, Limited elbow extension and supination, Short neck, Brachydactyly, Clinodactyly ... OMIM:244600
Spondylometaphyseal Dysplasia With Corneal Dystrophy
Depressed nasal bridge, Lumbar platyspondyly, Coarse metaphyseal trabecularization, Thoracic plat... OMIM:618961
Chondrodysplasia Punctata, Tibia-Metacarpal Type
Depressed nasal ridge, Short 3rd metacarpal, Short tibia, Micromelia, Epiphyseal stippling, Short... OMIM:118651
Aarskog-Scott Syndrome
Wide nasal bridge, Abnormality of the dentition, Small hand, Genu recurvatum, Finger syndactyly, ... ORPHA:915
Diabetes Insipidus, Neurohypophyseal
Osteopenia, Long philtrum, Short nose, Wide nose OMIM:125700
Pierre Robin Syndrome
Micrognathia, Cleft palate, Glossoptosis, Pierre-Robin sequence OMIM:261800
Hyperphosphatasia With Impaired Intellectual Development Syndrome 6
Depressed nasal bridge, Osteopenia, Toe syndactyly, Elbow flexion contracture, Anteverted nares, ... OMIM:616809
Congenital Absence Of Upper Arm And Forearm With Hand Present
Abnormality of the vertebral column, Abnormal hip bone morphology, Polydactyly, Upper limb phocom... ORPHA:294975
Odontochondrodysplasia
Platyspondyly, Depressed nasal bridge, Dentinogenesis imperfecta, Cone-shaped epiphysis, Square p... ORPHA:166272
Multiple Synostoses Syndrome 3
Broad thumb, Cutaneous syndactyly of toes, Broad hallux, Humeroradial synostosis, Cubitus valgus,... OMIM:612961
Mesomelic Dwarfism-Cleft Palate-Camptodactyly Syndrome
Abnormal epiphysis morphology, Elbow dislocation, Camptodactyly of finger, Abnormal hip bone morp... ORPHA:2631
Otospondylomegaepiphyseal Dysplasia
Epiphyseal dysplasia, Abnormal vertebral morphology, Limitation of joint mobility, Abnormal joint... ORPHA:1427
Multiple Pterygium Syndrome, X-Linked
Thin ribs, Depressed nasal ridge, Joint dislocation, Cleft upper lip, Short finger, Micrognathia,... OMIM:312150
Teebi Hypertelorism Syndrome 2
Depressed nasal bridge, Broad nasal tip, Delayed eruption of teeth, Microdontia, Thin upper lip v... OMIM:619736
Fibrochondrogenesis 1
Thin ribs, Hypoplastic scapulae, Small hand, Joint contracture of the hand, Broad long bones, Nar... OMIM:228520
Isolated Klippel-Feil Syndrome
Abnormality of the vertebral column, Abnormal shoulder morphology, Cervical C2/C3 vertebral fusio... ORPHA:2345
Robinow Syndrome, Autosomal Recessive 1
Bifid distal phalanx of toe, Small hand, Broad thumb, Clinodactyly, Radial bowing, Delayed crania... OMIM:268310
Kniest Dysplasia
Enlarged metaphyses, Delayed epiphyseal ossification, Hypoplasia of the odontoid process, Abnorma... ORPHA:485
Lethal Recessive Chondrodysplasia
Micromelia, Micrognathia, Flared elbow metaphyses, Limb undergrowth, Generalized osteosclerosis, ... ORPHA:1423
Metaphyseal Chondrodysplasia, Schmid Type
Abnormal vertebral morphology, Radial metaphyseal irregularity, Anterior rib cupping, Genu varum,... ORPHA:174
Catel-Manzke Syndrome
Abnormal epiphysis morphology, Oral synechia, Camptodactyly of finger, Joint stiffness, Radial de... ORPHA:1388
Schneckenbecken Dysplasia
Platyspondyly, Snail-like ilia, Hypoplastic scapulae, Advanced tarsal ossification, Short ribs, N... OMIM:269250
Christian Syndrome
Wide nasal bridge, Thoracic hemivertebrae, Prominent metopic ridge, Anal atresia, Scoliosis, Shor... OMIM:309620
Arthrogryposis, Distal, Type 1C
Pursed lips, Narrow mouth, Hip contracture, Talipes equinovarus, Short neck, High palate, Cleft l... OMIM:619110
14Q11.2 Microdeletion Syndrome
Toe clinodactyly, Depressed nasal bridge, Toe syndactyly, Long philtrum, Micrognathia, Narrow mou... ORPHA:261120
Non-Distal Duplication 10Q
Depressed nasal bridge, Micrognathia, Joint hypermobility, Everted lower lip vermilion, Convex na... ORPHA:1695
Spondylocostal Dysostosis 5
Butterfly vertebrae, Missing ribs, Supernumerary ribs, Short neck, Low back pain, Hemivertebrae, ... OMIM:122600
Lethal Osteosclerotic Bone Dysplasia
Depressed nasal ridge, Delayed cranial suture closure, Anteverted nares, Micrognathia, Gingival o... ORPHA:1832
Heart-Hand Syndrome Type 2
Abnormality of the dentition, Aplasia/Hypoplasia of the radius, Micromelia, Abnormal shoulder mor... ORPHA:1350
Isolated Pierre Robin Syndrome
Micrognathia, Cleft palate, Glossoptosis ORPHA:718
Developmental And Speech Delay Due To Sox5 Deficiency
Dental crowding, Exaggerated median tongue furrow, Lumbar hyperlordosis, Butterfly vertebrae, Tho... ORPHA:313892
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 3
Death in infancy, Vertebral segmentation defect, Talipes equinovarus, Short long bone, Vertebral ... OMIM:618845
Contractures, Pterygia, And Spondylocarpotarsal Fusion Syndrome 1A
Carpal synostosis, Cutaneous finger syndactyly, Hip contracture, Short neck, Tarsal synostosis, P... OMIM:178110
Klippel-Feil Syndrome 4, Autosomal Recessive, With Nemaline Myopathy And Facial Dysmorphism
Underdeveloped nasal alae, Long philtrum, Bulbous nose, Micrognathia, Acetabular dysplasia, Thin ... OMIM:616549
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type
Delayed epiphyseal ossification, Death in childhood, Short neck, Flat acetabular roof, Hypoplasti... OMIM:613320
Ring Chromosome 8 Syndrome
Anteverted nares, Deviation of finger, Short nose, Abnormal palate morphology ORPHA:1450
Intellectual Disability-Facial Dysmorphism-Hand Anomalies Syndrome
Short distal phalanx of finger, Broad thumb, Short distal phalanx of the thumb, Short 3rd metacar... ORPHA:370010
Multiple Epiphyseal Dysplasia Due To Collagen 9 Anomaly
Fragmentation of the metacarpal epiphyses, Abnormality of the ankle, Arthralgia of the hip, Abnor... ORPHA:166002
Multiple Pterygium Syndrome, Lethal Type
Thin ribs, Depressed nasal ridge, Joint dislocation, Short finger, Micrognathia, Increased suscep... OMIM:253290
Autosomal Recessive Omodysplasia
Depressed nasal bridge, Rhizomelia, Micromelia, Long philtrum, Elbow dislocation, Pterygium, Shor... ORPHA:93329
Pallister-Hall-Like Syndrome
Depressed nasal bridge, Toe syndactyly, Postaxial foot polydactyly, Micromelia, Microglossia, Mic... OMIM:241800
Spondylometaphyseal Dysplasia, 'Corner Fracture' Type
Abnormal vertebral morphology, Limitation of joint mobility, Clinodactyly, Hypoplastic iliac wing... ORPHA:93315
Mesomelia-Synostoses Syndrome
Synostosis of joints, Synostosis of carpal bones, Aplasia/Hypoplasia of the uvula, Abnormal tibia... ORPHA:2496
Achondroplasia
Flat acetabular roof, Cervical spinal canal stenosis, Limited elbow extension, Knee joint hypermo... ORPHA:15
Femoral-Facial Syndrome
Aplasia/Hypoplasia of the tibia, Abnormal pelvic girdle bone morphology, Scoliosis, Abnormal sacr... ORPHA:1988
Langer Mesomelic Dysplasia
Ulnar deviation of finger, Abnormal epiphysis morphology, Micromelia, Mesomelic/rhizomelic limb s... ORPHA:2632
Desbuquois Dysplasia 1
Radial deviation of the 2nd finger, Narrow mouth, Broad first metatarsal, Talipes equinovarus, Sh... OMIM:251450
Congenital Heart Defect-Round Face-Developmental Delay Syndrome
Depressed nasal ridge, Anteverted nares, Narrow mouth, Abnormal oral cavity morphology, Short nose ORPHA:1355
Spondylocarpotarsal Synostosis Syndrome
Epiphyseal dysplasia, Hypoplasia of the odontoid process, Carpal synostosis, C2-C3 subluxation, T... OMIM:272460
Adenylosuccinate Lyase Deficiency
Long philtrum, Anteverted nares, Thin upper lip vermilion, Smooth philtrum, Short nose, Prominent... ORPHA:46
Terminal Osseous Dysplasia
Toe clinodactyly, Short toe, Clinodactyly, Camptodactyly of finger, Mesomelic leg shortening, Dep... OMIM:300244
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia
Thin ribs, Depressed nasal ridge, Metaphyseal cupping of metacarpals, Rhizomelia, Metaphyseal cup... OMIM:300863
X-Linked Skeletal Dysplasia-Intellectual Disability Syndrome
Thoracic hemivertebrae, Brachydactyly, Anal atresia, Abnormal sacrum morphology, Scoliosis, Short... ORPHA:1436
Otospondylomegaepiphyseal Dysplasia, Autosomal Dominant
Epiphyseal dysplasia, Depressed nasal bridge, Platyspondyly, Premature osteoarthritis, Anteverted... OMIM:184840
Rhiny
Thin vermilion border, Anteverted nares, Short nose OMIM:180360
Diastrophic Dysplasia
Hypoplastic cervical vertebrae, Elbow dislocation, Micrognathia, Bowing of the long bones, Abnorm... ORPHA:628
Platyspondylic Lethal Skeletal Dysplasia, Torrance Type
Thin ribs, Radial bowing, Severe limb shortening, Short neck, Flat acetabular roof, Hypoplastic i... OMIM:151210
Pierre Robin Syndrome And Oligodactyly
Finger aplasia, Micrognathia, Cleft palate, Pierre-Robin sequence OMIM:172880
Atelosteogenesis, Type I
Radial bowing, Elbow dislocation, Fibular aplasia, Micrognathia, Neonatal death, Talipes equinova... OMIM:108720
Microcephaly With Cervical Spine Fusion Anomalies
Vertebral fusion, Spinal instability OMIM:251250
Posterior Fusion Of Lumbosacral Vertebrae-Blepharoptosis Syndrome
Abnormal form of the vertebral bodies, Joint stiffness, Posterior fusion of lumbosacral vertebrae... ORPHA:2064
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type
Thin ribs, Depressed nasal ridge, Metaphyseal cupping of metacarpals, Rhizomelia, Platyspondyly, ... ORPHA:163966
Postaxial Polydactyly-Dental And Vertebral Anomalies Syndrome
Elbow dislocation, Abnormal form of the vertebral bodies, Abnormal dental enamel morphology, Macr... ORPHA:2916
Hypochondroplasia
Abnormal pelvic girdle bone morphology, Micromelia, Short toe, Abnormal form of the vertebral bod... ORPHA:429
Greenberg Dysplasia
Platyspondyly, Rhizomelia, Micromelia, Abnormal pelvis bone ossification, Abnormal form of the ve... ORPHA:1426
Chondrodysplasia, Blomstrand Type
Abnormal vertebral morphology, Depressed nasal bridge, Micromelia, Flared metaphysis, Advanced ta... OMIM:215045
Whistling Face Syndrome, Recessive Form
Whistling appearance, Ulnar deviation of finger, Microglossia, Shoulder flexion contracture, Unde... OMIM:277720
Weiss-Kruszka Syndrome
Exaggerated cupid's bow, Prominent nasal tip, Clinodactyly of the 5th finger, Broad philtrum, Pro... ORPHA:502430
Temtamy Preaxial Brachydactyly Syndrome
Tooth malposition, Clinodactyly of the 2nd finger, Cutaneous finger syndactyly, Micrognathia, Nar... ORPHA:363417
Odontochondrodysplasia 1
Flat acetabular roof, Cone-shaped epiphyses of the phalanges of the hand, Genu varum, Short metac... OMIM:184260
Gordon Syndrome
Limitation of joint mobility, Finger syndactyly, Camptodactyly of finger, Clinodactyly of the 5th... ORPHA:376
Achondrogenesis, Type Ia
Unossified vertebral bodies, Hypoplastic scapulae, Hypoplastic nasal bridge, Abnormal femoral met... OMIM:200600
Aase-Smith Syndrome
Slender finger, Aplasia/Hypoplasia of the radius, Camptodactyly of finger, Abnormal hip bone morp... ORPHA:916
Spondylometaphyseal Dysplasia, A4 Type
Platyspondyly, Limitation of joint mobility, Micromelia, Flared, irregular rib ends, Coxa vara, S... ORPHA:168555
Ruvalcaba Syndrome
Small hand, Dental crowding, Micromelia, Underdeveloped nasal alae, Kyphosis, Narrow nose, Limite... OMIM:180870
Frontometaphyseal Dysplasia 1
Broad phalanges of the hand, Partial fusion of carpals, Carpal synostosis, Genu valgum, Limited e... OMIM:305620
Otopalatodigital Syndrome Type 2
Synostosis of carpal bones, Elbow dislocation, Carpal synostosis, Fibular aplasia, Micrognathia, ... ORPHA:90652
Clark-Baraitser Syndrome
Depressed nasal bridge, Sandal gap, Clinodactyly, Downturned corners of mouth, Long philtrum, Ant... OMIM:617752
Achondrogenesis Type 1A
Micromelia, Long philtrum, Abnormal enchondral ossification, Anteverted nares, Micrognathia, Mult... ORPHA:93299
Acrodysostosis
Open bite, Open mouth, Bowing of the long bones, Abnormal metacarpal morphology, Abnormal morphol... ORPHA:950
Acrocephalopolydactyly
Genu recurvatum, Depressed nasal ridge, Short neck, Limb undergrowth, Brachydactyly, Short long b... ORPHA:221054
Spondyloepimetaphyseal Dysplasia, Irapa Type
Platyspondyly, Synostosis of carpal bones, Micromelia, Abnormal rib morphology, Upper limb underg... ORPHA:93351
Spondyloepimetaphyseal Dysplasia, Shohat Type
Delayed epiphyseal ossification, Narrow vertebral interpedicular distance, Short neck, Genu varum... OMIM:602557
Immunodeficiency 50
Lymphopenia, Neutropenia OMIM:300988
Achondrogenesis Type 1B
Micromelia, Long philtrum, Abnormal enchondral ossification, Anteverted nares, Micrognathia, Tali... ORPHA:93298
Disorganization, Mouse, Homolog Of
Limb duplication, Cleft upper lip, Sacral meningocele, Hand polydactyly, Hip dislocation, Cleft p... OMIM:223200
17P13.3 Microduplication Syndrome
Congenital hip dislocation, Narrow mouth, Short neck, Clinodactyly of the 5th finger, High palate... ORPHA:217385
Orofaciodigital Syndrome Xi
Wide nasal bridge, Hypoplasia of the odontoid process, Bulbous nose, Kyphoscoliosis, Postaxial po... OMIM:612913
Craniofacial-Deafness-Hand Syndrome
Depressed nasal bridge, Depressed nasal ridge, Ulnar deviation of finger, Aplasia/Hypoplasia invo... ORPHA:1529
Koolen-De Vries Syndrome
Arachnodactyly, Everted lower lip vermilion, Hip dislocation, High, narrow palate, Thick nasal al... ORPHA:96169
Klippel-Feil Syndrome 2, Autosomal Recessive
Cleft upper lip, Cervical C2/C3 vertebral fusion, Short neck, Scoliosis, Cleft palate, Fused cerv... OMIM:214300
Hall-Riggs Syndrome
Wide nasal bridge, Platyspondyly, Abnormal epiphysis morphology, Downturned corners of mouth, Del... ORPHA:2107
Rhizomelic Dysplasia, Patterson-Lowry Type
Depressed nasal ridge, Rhizomelia, Deviation of finger, Abnormal form of the vertebral bodies, Ge... ORPHA:2831
Arthrogryposis, Distal, Type 5D
Micrognathia, Open mouth, Narrow mouth, Limited elbow movement, Talipes equinovarus, Short neck, ... OMIM:615065
Fibrodysplasia Ossificans Progressiva
Broad femoral neck, Short 1st metacarpal, Small cervical vertebral bodies, Widely spaced teeth, E... OMIM:135100
Kyphomelic Dysplasia
Limitation of joint mobility, Micromelia, Abnormal form of the vertebral bodies, Joint stiffness,... ORPHA:1801
Intellectual Disability-Hypoplastic Corpus Callosum-Preauricular Tag Syndrome
Delayed skeletal maturation, Camptodactyly of finger, Micrognathia, Narrow mouth, Death in infanc... ORPHA:1495
Fibular Aplasia-Complex Brachydactyly Syndrome
Synostosis of carpal bones, Micromelia, Abnormal epiphysis morphology, Limitation of joint mobili... ORPHA:2639
Pierpont Syndrome
Broad nasal tip, Short toe, Prominent fingertip pads, Short finger, Widely spaced teeth, Prominen... OMIM:602342
Mesomelic Dysplasia, Kantaputra Type
Ulnar deviation of finger, Abnormality of the ankle, Synostosis of carpal bones, Camptodactyly of... ORPHA:1836
Reticular Dysgenesis
Lymphopenia, Leukopenia, Congenital agranulocytosis, Hypoplasia of the thymus OMIM:267500
Lethal Short-Limb Skeletal Dysplasia, Al Gazali Type
Platyspondyly, Shortening of all phalanges of fingers, Wormian bones, Limb undergrowth, Shortenin... OMIM:601356
Craniosynostosis, Herrmann-Opitz Type
Micromelia, Finger syndactyly, Abnormal rib morphology, Micrognathia, Split hand, Brachydactyly, ... ORPHA:2145
Cenani-Lenz Syndrome
Synostosis of joints, Toe syndactyly, Synostosis of carpal bones, Finger syndactyly, Elbow disloc... ORPHA:3258
Vertebral Fusion, Posterior Lumbosacral, With Blepharoptosis
Posterior fusion of lumbosacral vertebrae OMIM:192800
Potocki-Shaffer Syndrome
Wide nasal bridge, Downturned corners of mouth, Underdeveloped nasal alae, Wormian bones, 2-5 fin... OMIM:601224
Short Stature, Amelogenesis Imperfecta, And Skeletal Dysplasia With Scoliosis
Carious teeth, Genu valgum, Micrognathia, Hip contracture, Flattened epiphysis, High palate, Adva... OMIM:618363
Combined Cellular And Humoral Immune Defects With Granulomas
T lymphocytopenia, B lymphocytopenia OMIM:233650
Robinow Syndrome, Autosomal Dominant 2
Broad thumb, Clinodactyly, Micrognathia, Cleft soft palate, Short nose, Oligodontia, Thin upper l... OMIM:616331
Neutropenia, Severe Congenital, 2, Autosomal Dominant
B lymphocytopenia, Neutropenia, Monocytosis OMIM:613107
Spondyloperipheral Dysplasia-Short Ulna Syndrome
Aplasia/hypoplasia involving bones of the extremities, Platyspondyly, Arthralgia of the hip, Broa... ORPHA:1856
Atelosteogenesis Type Ii
Wide nasal base, Hypoplastic cervical vertebrae, Elbow dislocation, Genu valgum, Micrognathia, Bi... ORPHA:56304
Robinow Syndrome, Autosomal Recessive 2
Wide nasal bridge, Abnormality of the dentition, Broad thumb, Broad nasal tip, Clinodactyly, Prom... OMIM:618529
Otopalatodigital Syndrome, Type I
Toe syndactyly, Synostosis of carpal bones, Narrow mouth, Absent frontal sinuses, Short hallux, D... OMIM:311300
Lymphopenic Hypergammaglobulinemia, Antibody Deficiency, Autoimmune Hemolytic Anemia, And Glomerulonephritis
Lymphopenia, Autoimmune hemolytic anemia, Plasmacytosis OMIM:247800
Langer Mesomelic Dysplasia
Increased carrying angle, Short tibia, Radial bowing, Rudimentary fibula, Rhizomelic arm shorteni... OMIM:249700
Leukodystrophy, Hypomyelinating, 26, With Chondrodysplasia
Scoliosis, Hypoplastic cervical vertebrae, Elbow dislocation, Knee dislocation, Small epiphyses, ... OMIM:620269
Chromosome 6Q11-Q14 Deletion Syndrome
Broad nasal tip, Long philtrum, Sacral dimple, Micrognathia, Prominent nasal bridge, Joint hyperm... OMIM:613544
Developmental And Epileptic Encephalopathy 73
Delayed skeletal maturation, Narrow nasal bridge, Hip dysplasia, Flexion contracture, Scoliosis, ... OMIM:618379
Chung-Jansen Syndrome
Long philtrum, Anteverted nares, Micrognathia, Joint hypermobility, Short philtrum, Hip dysplasia... OMIM:617991
Burn-Mckeown Syndrome
Wide nasal bridge, Bilateral choanal atresia, Prominent nasal bridge, Abnormal palate morphology,... ORPHA:1200
Acromesomelic Dysplasia 2A
Acromesomelia, Short tibia, Stillbirth, Aplasia/Hypoplasia involving the metacarpal bones, Distal... OMIM:200700
Stickler Syndrome Type 1
Platyspondyly, Abnormal epiphysis morphology, Long philtrum, Abnormal vertebral epiphysis morphol... ORPHA:90653
Chromosome 16P12.2-P11.2 Deletion Syndrome, 7.1- To 8.7-Mb
Wide nasal bridge, Clinodactyly, Bulbous nose, Anteverted nares, Micrognathia, Open mouth, Thin u... OMIM:613604
Diastrophic Dysplasia
Ulnar deviation of finger, Cervical kyphosis, Hypoplastic cervical vertebrae, Short finger, Irreg... OMIM:222600
Distal Duplication 18Q
Progressive intervertebral space narrowing, Choanal atresia, Carious teeth, Deviation of finger, ... ORPHA:1716
Klippel-Feil Syndrome 1, Autosomal Dominant
Cervical C2/C3 vertebral fusion, Short neck, Abnormal limb bone morphology, Abnormal rib morpholo... OMIM:118100
Mitochondrial Myopathy And Sideroblastic Anemia
Long philtrum, Micrognathia, High palate, Scoliosis, Kyphosis, Short nose ORPHA:2598
Microcephaly-Cervical Spine Fusion Anomalies Syndrome
Abnormal dental morphology, Abnormal hip bone morphology, Micrognathia, Short neck, Hyperlordosis... ORPHA:2522
Fibrochondrogenesis
Depressed nasal bridge, Hypoplastic scapulae, Micromelia, Abnormal diaphysis morphology, Camptoda... ORPHA:2021
Achondrogenesis
Micromelia, Long philtrum, Abnormal enchondral ossification, Anteverted nares, Micrognathia, Shor... ORPHA:932
Spondyloepimetaphyseal Dysplasia Congenita, Strudwick Type
Aplasia/hypoplasia involving bones of the extremities, Abnormal vertebral morphology, Platyspondy... ORPHA:93346
Thrombocytopenia-Absent Radius Syndrome
Hip dislocation, Broad thumb, Patellar dislocation, Finger syndactyly, Tibial torsion, Cervical r... ORPHA:3320
Stapes Ankylosis With Broad Thumbs And Toes
Short distal phalanx of finger, Broad thumb, Toe syndactyly, Broad hallux, Underdeveloped nasal a... OMIM:184460
14Q24.1Q24.3 Microdeletion Syndrome
Wide nasal bridge, Short thumb, Long philtrum, Intestinal malrotation, Prominent nasal bridge, Li... ORPHA:401935
Codas Syndrome
Depressed nasal bridge, Abnormal pelvic girdle bone morphology, Congenital hip dislocation, Abnor... ORPHA:1458
Fetal Valproate Spectrum Disorder
Depressed nasal ridge, Downturned corners of mouth, Long philtrum, Narrow mouth, Thin vermilion b... ORPHA:1906
Ruvalcaba Syndrome
Small hand, Cone-shaped epiphysis, Synostosis of carpal bones, Micromelia, Dental crowding, Kypho... ORPHA:3121
Progressive Spondyloepimetaphyseal Dysplasia-Short Stature-Short Fourth Metatarsals-Intellectual Disability Syndrome
Overlapping toe, Genu valgum, Carpal bone hypoplasia, Short neck, Beaking of vertebral bodies, Th... ORPHA:457395
Leri-Weill Dyschondrosteosis
Increased carrying angle, Abnormal femoral neck morphology, Short tibia, Radial bowing, Abnormal ... OMIM:127300
Spondylomegaepiphyseal Dysplasia With Upper Limb Mesomelia, Punctate Calcifications, And Deafness
Platyspondyly, Scoliosis, Enlarged epiphyses of the phalanges of the hand, Hypoplastic iliac wing... OMIM:609616
Microphthalmia With Limb Anomalies
Flared nostrils, Toe syndactyly, Postaxial foot polydactyly, Talipes equinovarus, High palate, 2-... OMIM:206920
Atelosteogenesis, Type Iii
Depressed nasal bridge, Rhizomelia, Tombstone-shaped proximal phalanges, Cervical kyphosis, Radia... OMIM:108721
Clark-Baraitser syndrome
Genu recurvatum, Broad nasal tip, Exaggerated median tongue furrow, Thick lower lip vermilion, An... OMIM:300602
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type
Decreased fibular diameter, Micrognathia, Decreased skull ossification, Short neck, Multiple pren... OMIM:616897
Achondrogenesis Type 2
Hypoplastic ilia, Unossified sacrum, Micromelia, Absent vertebral body mineralization, Delayed pu... ORPHA:93296
Isolated Osteopoikilosis
Sclerotic foci within carpal bones, Tarsal sclerosis, Limitation of joint mobility, Abnormal pelv... ORPHA:166119
Vitamin K Antagonist Embryofetopathy
Depressed nasal bridge, Short distal phalanx of finger, Choanal atresia, Anteverted nares, Epiphy... ORPHA:1914
Thoracomelic Dysplasia
Abnormal pelvic girdle bone morphology, Elbow dislocation, Genu valgum, Short ribs, Joint hypermo... ORPHA:1803
Robinow Syndrome
Flared nostrils, Tooth malposition, Ankyloglossia, Micrognathia, Marked delay in eruption of perm... ORPHA:97360
Neurodevelopmental Disorder With Structural Brain Anomalies And Dysmorphic Facies
Wide nasal bridge, Clinodactyly, Long philtrum, Anteverted nares, Micrognathia, Unilambdoid synos... OMIM:618577
Spondyloepimetaphyseal Dysplasia, Sponastrime Type
Genu valgum, Narrow vertebral interpedicular distance, Lumbar interpedicular narrowing, Genu varu... OMIM:271510
Weyers Ulnar Ray/Oligodactyly Syndrome
Finger aplasia, Absent thumb, Cleft upper lip, Proximal radial head dislocation, Micrognathia, So... OMIM:602418
Fibrochondrogenesis 2
Platyspondyly, Hypoplastic ilia, Metaphyseal cupping, Anteverted nares, Micrognathia, Short ribs,... OMIM:614524
Trigonocephaly 1
Wide nasal bridge, High, narrow palate, Lumbar hemivertebrae, Meckel diverticulum, Long philtrum,... OMIM:190440
Rhizomelic Chondrodysplasia Punctata
Abnormality of the dentition, Rhizomelia, Abnormal epiphysis morphology, Limitation of joint mobi... ORPHA:177
Peroxisome Biogenesis Disorder 8A (Zellweger)
Epiphyseal stippling, Glossoptosis, Death in infancy OMIM:614876
Acromesomelic Dysplasia, Grebe Type
Synostosis of carpal bones, Short tibia, Micromelia, Short toe, Aplasia of the middle phalanges o... ORPHA:2098
Dyssegmental Dysplasia, Silverman-Handmaker Type
Limitation of joint mobility, Broad long bones, Micrognathia, Narrow mouth, Talipes equinovarus, ... ORPHA:1865
Intellectual Developmental Disorder, X-Linked, Syndromic, Siderius Type
Cleft lip, Broad nasal tip, Arachnodactyly, Long toe, Large hands, Cleft palate, Thoracic kyphosis OMIM:300263
Spondylocostal Dysostosis 4, Autosomal Recessive
Anal stenosis, Block vertebrae, Abnormal odontoid process morphology, Vertebral segmentation defe... OMIM:613686
Macrocephaly-Spastic Paraplegia-Dysmorphism Syndrome
Thin upper lip vermilion, Everted lower lip vermilion, Short philtrum, Scoliosis, Wide mouth, Kyp... ORPHA:2429
Ventricular Extrasystoles With Syncopal Episodes-Perodactyly-Robin Sequence Syndrome
High, narrow palate, Short distal phalanx of finger, Joint dislocation, Short toe, Camptodactyly ... ORPHA:3201
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 1
Osteopenia, Dental crowding, Sandal gap, Short toe, Long philtrum, Delayed skeletal maturation, S... OMIM:617877
Acromesomelic Dysplasia 1
Radial bowing, Long hallux, Beaking of vertebral bodies, Broad phalanx, Cone-shaped epiphyses of ... OMIM:602875
Autosomal Dominant Omodysplasia
Depressed nasal bridge, Rhizomelia, Short 1st metacarpal, Elbow dislocation, Long philtrum, Micro... ORPHA:93328
Edinburgh Malformation Syndrome
Slender finger, Ulnar deviation of finger, Choanal atresia, Downturned corners of mouth, Antevert... ORPHA:1895
Glutamine Deficiency, Congenital
Wide nasal bridge, Depressed nasal bridge, Micromelia, Anteverted nares, Thin vermilion border, N... OMIM:610015
Short-Rib Thoracic Dysplasia 16 With Or Without Polydactyly
Wide nasal bridge, Angel-shaped phalanx, Short distal phalanx of finger, Depressed nasal bridge, ... OMIM:617102
Multiple Epiphyseal Dysplasia Type 4
Hypoplastic cervical vertebrae, Radial bowing, Limitation of joint mobility, Abnormal hand morpho... ORPHA:93307
Muscular Dystrophy-Dystroglycanopathy (Congenital With Or Without Impaired Intellectual Development), Type B, 5
Elbow contracture, Hyperlordosis, Vertebral fusion, Achilles tendon contracture, Macroglossia, Sc... OMIM:606612
Ophthalmomandibulomelic Dysplasia
Mesomelia, Aplasia/Hypoplasia of the radius, Synostosis of carpal bones, Lateral humeral condyle ... ORPHA:2741
Camptodactyly Syndrome, Guadalajara Type 1
Short distal phalanx of finger, Depressed nasal bridge, Toe syndactyly, Dental malocclusion, Shor... ORPHA:1327
Dysostosis, Stanescu Type
Carious teeth, Bowing of the long bones, Short neck, Increased bone mineral density, Narrow nasal... ORPHA:1798
Short-Rib Thoracic Dysplasia 2 With Or Without Polydactyly
Rhizomelia, Brachydactyly, Postaxial hand polydactyly, Short foot, Short metacarpal, Mesomelia OMIM:611263
Spondyloepimetaphyseal Dysplasia, Borochowitz-Cormier-Daire Type
Platyspondyly, Metaphyseal spurs, Micromelia, Posterior rib cupping, Irregular epiphyses, Small e... OMIM:608728
Mosaic Trisomy 14
Wide nasal bridge, Camptodactyly of finger, Anteverted nares, Micrognathia, Prominent nasal bridg... ORPHA:1703
Intellectual Developmental Disorder With Dysmorphic Facies And Ptosis
Wide nasal bridge, Downturned corners of mouth, Long philtrum, Narrow mouth, Joint hypermobility,... OMIM:617333
Verloove Vanhorick-Brubakk Syndrome
Abnormal pelvic girdle bone morphology, Finger syndactyly, Abnormal form of the vertebral bodies,... ORPHA:3429
Spondyloepimetaphyseal Dysplasia, Faden-Alkuraya Type
Overlapping toe, Carpal bone hypoplasia, Short neck, Thoracolumbar scoliosis, Short metacarpal, S... OMIM:616723
Kbg Syndrome
Ulnar deviation of the 2nd finger, Short neck, Widely-spaced maxillary central incisors, Vertebra... OMIM:148050
Intellectual Developmental Disorder With Speech Delay And Dysmorphic Facies
Anteverted nares, Wide mouth, Exaggerated cupid's bow, Thick vermilion border, Clinodactyly of th... OMIM:618506
Vitamin D-Dependent Rickets, Type 2B, With Normal Vitamin D Receptor
Delayed epiphyseal ossification, Rickets, Bulging epiphyses, Rickets of the lower limbs, Femoral ... OMIM:600785
Spondylometaepiphyseal Dysplasia, Short Limb-Hand Type
Hypoplasia of the odontoid process, Broad long bones, Micrognathia, Short neck, Broad phalanx, An... OMIM:271665
Léri-Weill Dyschondrosteosis
Short tibia, Radial bowing, Elbow dislocation, Abnormal tibia morphology, Genu valgum, Patellar a... ORPHA:240
Periventricular Nodular Heterotopia 7
Microretrognathia, 1-4 toe syndactyly, Contracture of the proximal interphalangeal joint of the 2... OMIM:617201
Isolated Congenital Hypoglossia/Aglossia
Aplasia/Hypoplasia of fingers, Micrognathia, Cleft palate, Microglossia ORPHA:141152
Congenital Disorder Of Glycosylation, Type Iu
Congenital contracture, Micrognathia, Death in infancy, Thin upper lip vermilion, High palate, Sc... OMIM:615042
Autosomal Dominant Otospondylomegaepiphyseal Dysplasia
Long philtrum, Micrognathia, Abnormal metacarpal morphology, Osteoarthritis, Glossoptosis, Cleft ... ORPHA:166100
Bartsocas-Papas Syndrome
Synostosis of joints, Toe syndactyly, Absent thumb, Finger syndactyly, Underdeveloped nasal alae,... ORPHA:1234
Osebold-Remondini Syndrome
Mesomelia, Short tibia, Short toe, Type A brachydactyly, Radial deviation of finger, Carpal synos... OMIM:112910
Ring Chromosome 21 Syndrome
Small hand, Clinodactyly, Thoracic hemivertebrae, Azoospermia, Fused thoracic vertebrae, Scoliosi... ORPHA:1445
3M Syndrome
Thin ribs, Short neck, Everted lower lip vermilion, Hypoplastic ischia, Abnormality of the elbow,... ORPHA:2616
Autosomal Dominant Spondylocostal Dysostosis
Wide nasal bridge, Abnormal sacrum morphology, Anteverted nares, Vertebral segmentation defect, M... ORPHA:1797
Marshall-Smith Syndrome
Choanal atresia, Slender long bone, Anteverted nares, Gingival overgrowth, Open mouth, Protruding... ORPHA:561
Miller-Dieker Syndrome
Anteverted nares, Abnormal upper lip morphology, Short nose, Clinodactyly of the 5th finger, Sacr... ORPHA:531
Schwartz-Jampel Syndrome, Type 1
Joint contracture of the hand, Pursed lips, Micrognathia, Narrow mouth, Hip contracture, Bowing o... OMIM:255800
Antley-Bixler Syndrome
Choanal atresia, Long philtrum, Camptodactyly of finger, Delayed cranial suture closure, Antevert... ORPHA:83
Skeletal Dysplasia, Mild, With Joint Laxity And Advanced Bone Age
Clinodactyly of the 2nd finger, Genu valgum, Prominent nasal tip, Finger joint hypermobility, Fla... OMIM:618870
Larsen Syndrome
Hypoplastic cervical vertebrae, Elbow dislocation, Talipes equinovarus, Beaking of vertebral bodi... OMIM:150250
Pfeiffer Syndrome Type 1
Depressed nasal bridge, Broad thumb, Toe syndactyly, Finger syndactyly, Bicoronal synostosis, Apl... ORPHA:93258
Blomstrand Lethal Chondrodysplasia
Synostosis of joints, Natal tooth, Distal shortening of limbs, Micrognathia, Protruding tongue, B... ORPHA:50945
Phosphoribosylaminoimidazole Carboxylase Deficiency
Lumbar hemivertebrae, Choanal atresia, Depressed nasal bridge, Bilateral choanal atresia, Antever... OMIM:619859
Polyneuropathy-Intellectual Disability-Acromicria-Premature Menopause Syndrome
Ulnar deviation of finger, Abnormal pelvic girdle bone morphology, Micromelia, Camptodactyly of f... ORPHA:2928
Immunodeficiency 18
Reduced natural killer cell count, Lymphopenia, Abnormal B cell count, Decreased proportion of CD... OMIM:615615
Even-Plus Syndrome
Epiphyseal dysplasia, Bifid nasal tip, Depressed nasal ridge, Dysplasia of the femoral head, Hypo... OMIM:616854
Otospondylomegaepiphyseal Dysplasia, Autosomal Recessive
Epiphyseal dysplasia, Premature osteoarthritis, Micrognathia, Beaking of vertebral bodies, Pierre... OMIM:215150
Platyspondylic Dysplasia, Torrance Type
Platyspondyly, Short distal phalanx of finger, Hypoplastic scapulae, Metaphyseal cupping, Depress... ORPHA:85166
Spondyloepiphyseal Dysplasia Congenita
Dysplasia of the femoral head, Genu valgum, Micrognathia, Limited elbow movement, Short neck, Fla... ORPHA:94068
Basal Cell Nevus Syndrome 1
Wide nasal bridge, Hamartomatous stomach polyps, Short distal phalanx of the thumb, Vertebral wed... OMIM:109400
Acrocapitofemoral Dysplasia
Cone-shaped metacarpal epiphyses, Cone-shaped epiphysis, Abnormal femoral neck morphology, Microm... ORPHA:63446
Baker-Gordon Syndrome
Joint hypermobility, Thin upper lip vermilion, Smooth philtrum, Prominent nasal tip, Scoliosis, S... OMIM:618218
Fatty Acyl-Coa Reductase 1 Deficiency
Depressed nasal bridge, Long philtrum, Thin upper lip vermilion, Smooth philtrum, Short nose ORPHA:438178
Neurodevelopmental Disorder With Hypotonia, Stereotypic Hand Movements, And Impaired Language
Depressed nasal bridge, Downturned corners of mouth, Anteverted nares, 2-3 toe syndactyly, Thin u... OMIM:613443
Faciodigitogenital Syndrome, Autosomal Recessive
Narrow palate, Dental malocclusion, Anteverted nares, Prominent nasal bridge, Down-sloping should... OMIM:227330
Autosomal Dominant Myopia-Midfacial Retrusion-Sensorineural Hearing Loss-Rhizomelic Dysplasia Syndrome
Rhizomelia, Hypoplastic scapulae, Micromelia, Micrognathia, Femoral bowing, Dumbbell-shaped long ... ORPHA:440354
2Q32Q33 Microdeletion Syndrome
Toe clinodactyly, Broad thumb, Dental crowding, Long philtrum, Anteverted nares, Micrognathia, Pr... ORPHA:251019
Spondyloepimetaphyseal Dysplasia, Matrilin-3 Type
Lumbar hyperlordosis, Limited elbow extension, Limb undergrowth, Enlarged joints, Bowing of the legs ORPHA:156728
Mesomelic Dysplasia, Nievergelt Type
Aplasia/Hypoplasia of the radius, Limitation of joint mobility, Finger syndactyly, Micromelia, Ca... ORPHA:2633
Koolen-De Vries Syndrome
Pear-shaped nose, Open mouth, Everted lower lip vermilion, High palate, Hip dislocation, Slender ... OMIM:610443
Spondyloepimetaphyseal Dysplasia, Shohat Type
Delayed epiphyseal ossification, Abnormal vertebral morphology, Premature osteoarthritis, Squared... ORPHA:93352
Imperforate Oropharynx-Costovertebral Anomalies Syndrome
Wide nasal bridge, Choanal atresia, Abnormal form of the vertebral bodies, Abnormal lip morpholog... ORPHA:2759
Gorlin Syndrome
Wide nasal bridge, Abnormal vertebral morphology, Carious teeth, Vertebral wedging, Abnormal rib ... ORPHA:377
Chondrodysplasia Punctata 1, X-Linked Recessive
Depressed nasal bridge, Short distal phalanx of finger, Anosmia, Abnormality of the vertebral col... OMIM:302950
Acromesomelic Dysplasia, Hunter-Thompson Type
Acromesomelia, Abnormal pelvic girdle bone morphology, Hip dislocation, Abnormality of the ankle,... ORPHA:968
C Syndrome
Toe syndactyly, Postaxial foot polydactyly, Clinodactyly, Micrognathia, Thick anterior alveolar r... OMIM:211750
Orofaciodigital Syndrome Ii
Postaxial foot polydactyly, Micrognathia, High palate, Accessory oral frenulum, Syndactyly, Broad... OMIM:252100
Boomerang Dysplasia
Finger syndactyly, Micromelia, Abnormal tibia morphology, Abnormal femur morphology, Abnormal mor... ORPHA:1263
Hypophosphatasia, Adult
Carious teeth, Rickets, Chondrocalcinosis, Osteomalacia, Pathologic fracture, Premature loss of p... OMIM:146300
Spondyloepimetaphyseal Dysplasia, Strudwick Type
Platyspondyly, Hypoplasia of the odontoid process, Clinodactyly, Genu valgum, Metaphyseal dapplin... OMIM:184250
Astley-Kendall Dysplasia
Epiphyseal stippling, Micromelia ORPHA:85175
Femur-Fibula-Ulna Complex
Aplasia/Hypoplasia of the radius, Finger syndactyly, Micromelia, Abnormal femur morphology, Humer... ORPHA:2019
Noonan Syndrome-Like Disorder With Loose Anagen Hair
Carious teeth, Delayed skeletal maturation, Thick lower lip vermilion, Anteverted nares, Abnormal... ORPHA:2701
Pfeiffer Syndrome
Choanal atresia, Shortening of all middle phalanges of the fingers, Broad thumb, 3-4 toe cutaneou... OMIM:101600
Microcephaly-Micromelia Syndrome
Absent thumb, Short tibia, Micromelia, Oligodactyly, Micrognathia, Narrow mouth, Humeroradial syn... OMIM:251230
Craniofacial Dysmorphism, Skeletal Anomalies, And Impaired Intellectual Development Syndrome 1
Overlapping toe, Micrognathia, Talipes equinovarus, Short neck, Beaking of vertebral bodies, Micr... OMIM:213980
Tetrasomy 12P
Downturned corners of mouth, Delayed eruption of teeth, Long philtrum, Thick upper lip vermilion,... ORPHA:884
Arthrogryposis, Distal, Type 2A
Joint contracture of the hand, Pursed lips, Narrow mouth, Hip contracture, Talipes equinovarus, S... OMIM:193700
Orofaciodigital Syndrome Type 10
Short tibia, Fibular aplasia, Micrognathia, Cleft soft palate, Short neck, Tarsal synostosis, Mes... ORPHA:2756
Multiple Pterygium Syndrome, Escobar Variant
Intercrural pterygium, Micrognathia, Narrow mouth, Patellar aplasia, Dysplastic patella, Arachnod... OMIM:265000
Pde4D Haploinsufficiency Syndrome
Micrognathia, Prominent nasal tip, Broad phalanx, Bilateral coxa valga, Short metacarpal, Short n... ORPHA:439822
Ehlers-Danlos Syndrome, Musculocontractural Type, 2
Dental crowding, Long philtrum, Persistent open anterior fontanelle, Narrow mouth, Joint hypermob... OMIM:615539
Craniosynostosis-Hydrocephalus-Arnold-Chiari Malformation Type I-Radioulnar Synostosis Syndrome
Depressed nasal bridge, Toe syndactyly, Long philtrum, Anteverted nares, Micrognathia, Short colu... ORPHA:171839
Metaphyseal Anadysplasia 2
Micromelia, Short femoral neck, Metaphyseal widening, Metaphyseal irregularity, Genu varum, Bowin... OMIM:613073
Ohdo Syndrome
Wide nasal bridge, Depressed nasal bridge, Long philtrum, Widely spaced teeth, Anteverted nares, ... OMIM:249620
Rhizomelic Chondrodysplasia Punctata, Type 1
Depressed nasal bridge, Rhizomelia, Flared metaphysis, Micrognathia, Epiphyseal stippling, Calcif... OMIM:215100
Acrocapitofemoral Dysplasia
Short tibia, Radial bowing, Hypoplastic iliac wing, Dysplasia of the femoral head, Cone-shaped ep... OMIM:607778
Mietens Syndrome
Wide nasal bridge, Elbow dislocation, Short nose, Avascular necrosis of the capital femoral epiph... ORPHA:2557
Fibular Hemimelia
Toe syndactyly, Limitation of joint mobility, Finger syndactyly, Short tibia, Limited knee flexio... ORPHA:93323
Cornelia De Lange Syndrome 4 With Or Without Midline Brain Defects
Velopharyngeal insufficiency, Radioulnar synostosis, Vertebral clefting, Short nose, Syndactyly, ... OMIM:614701
Lateral Meningocele Syndrome
Dental crowding, Long philtrum, Sclerosis of skull base, Micrognathia, Biconcave vertebral bodies... OMIM:130720
Rapadilino Syndrome
High, narrow palate, Aplasia/Hypoplasia of the radius, Absent thumb, Joint dislocation, Aplasia/H... OMIM:266280
Caudal Regression Syndrome
Abnormal pelvic girdle bone morphology, Aplasia/Hypoplasia of the sacrum, Joint stiffness, Missin... ORPHA:3027
Osteogenesis Imperfecta, Type Xvi
Platyspondyly, Osteopenia, Rhizomelia, Microretrognathia, Tooth agenesis, Decreased calvarial oss... OMIM:616229
Beta-Mercaptolactate Cysteine Disulfiduria
Micromelia, Sandal gap, Anteverted nares, Genu valgum, Joint hypermobility, Arachnodactyly, Conve... ORPHA:1035
Lamb-Shaffer Syndrome
Broad nasal tip, Thoracic kyphosis, Micrognathia, Thick vermilion border, Hip dysplasia, Scoliosi... ORPHA:530983
Fg Syndrome 5
Depressed nasal bridge, Diastema, Long philtrum, Anteverted nares, Metopic synostosis, Short nose OMIM:300581
Orofaciodigital Syndrome Xix
Toe syndactyly, Postaxial foot polydactyly, Carious teeth, Cleft soft palate, Narrow mouth, High ... OMIM:620107
Facial Paresis, Hereditary Congenital, 3
Depressed nasal bridge, Downturned corners of mouth, Anteverted nares, Micrognathia, Open mouth, ... OMIM:614744
Faciocardiomelic Dysplasia, Lethal
Short 5th finger, Radial deviation of the hand, Microglossia, Short thumb, Micrognathia, Narrow m... OMIM:227270
Osteogenesis Imperfecta, Type Ii
Thin ribs, Platyspondyly, Abnormal pelvic girdle bone morphology, Broad long bones, Tibial bowing... OMIM:166210
Cleidocranial Dysplasia
Hypoplastic scapulae, Carious teeth, Open bite, Genu valgum, Micrognathia, Decreased skull ossifi... ORPHA:1452
Cardioacrofacial Dysplasia 1
Conical tooth, Diastema, Genu valgum, Postaxial polydactyly, Limb undergrowth, Overhanging nasal ... OMIM:619142
Rhizomelic Skeletal Dysplasia With Or Without Pelger-Huet Anomaly
Radial bowing, Genu valgum, Thoracolumbar scoliosis, Metaphyseal dysplasia, Ovoid vertebral bodie... OMIM:618019
Melkersson-Rosenthal Syndrome
Furrowed tongue OMIM:155900
Satb2-Associated Syndrome Due To A Chromosomal Rearrangement
Small hand, Broad thumb, Micrognathia, Narrow mouth, Talipes equinovarus, Short neck, Bilateral t... ORPHA:251028
Chromosome 8Q22.1 Duplication Syndrome
Genu recurvatum, Broad thumb, Limitation of joint mobility, Short thumb, Interphalangeal joint co... OMIM:151200
Orofaciodigital Syndrome Xv
Wide nasal bridge, Midline notch of upper alveolar ridge, Broad hallux, Anteverted nares, Duplica... OMIM:617127
Dysplastic Cortical Hyperostosis, Kozlowski-Tsuruta Type
Abnormal cortical bone morphology, Increased bone mineral density, Limb undergrowth, Abnormal lim... ORPHA:2204
Pycnodysostosis
Small hand, Carious teeth, Acromelia, Delayed cranial suture closure, Hypoplastic iliac wing, Mic... ORPHA:763
Hypocalcemic Vitamin D-Resistant Rickets
Abnormality of the dentition, Coarse metaphyseal trabecularization, Joint dislocation, Abnormal f... ORPHA:93160
Spondyloepiphyseal Dysplasia, Kimberley Type
Platyspondyly, Abnormal epiphysis morphology, Micromelia, Osteoarthritis ORPHA:93283
Larsen-Like Syndrome
Dental malocclusion, Joint dislocation, Delayed skeletal maturation, Radial deviation of the 4th ... OMIM:608545
Cardioacrofacial Dysplasia 2
Conical tooth, Postaxial foot polydactyly, Genu valgum, Tented upper lip vermilion, Hypodontia, P... OMIM:619143
Distal Deletion 17Q
Small hand, Deviation of finger, Micromelia, Abnormal form of the vertebral bodies, Aplasia/Hypop... ORPHA:1597
Frontometaphyseal Dysplasia
Joint contracture of the hand, Broad thumb, Short distal phalanx of the thumb, Micrognathia, Limi... ORPHA:1826
Ulna Hypoplasia-Intellectual Disability Syndrome
Mesomelia, Ulnar deviation of finger, Broad thumb, Micromelia, Elbow dislocation, Delayed cranial... ORPHA:2249
Thanatophoric Dysplasia, Type Ii
Small abnormally formed scapulae, Hypoplastic ilia, Platyspondyly, Micromelia, Flared metaphysis,... OMIM:187601
Al-Raqad Syndrome
Sandal gap, Narrow mouth, Joint hypermobility, Thin upper lip vermilion, Brachydactyly, Short nose OMIM:616459
Cataract-Intellectual Disability-Hypogonadism Syndrome
Tooth malposition, Depressed nasal bridge, Ulnar deviation of finger, Furrowed tongue, Abnormal d... ORPHA:1387
Developmental Malformations-Deafness-Dystonia Syndrome
Hypoplastic scapulae, Micromelia, Death in early adulthood, Orofacial cleft, Femoral retroversion... ORPHA:79107
Axial Spondylometaphyseal Dysplasia
Abnormal ilium morphology, Hypoplastic iliac wing, Abnormal metacarpal morphology, Flat acetabula... ORPHA:168549
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 5
Hyperlordosis, Vertebral fusion, Achilles tendon contracture, Macroglossia, Scoliosis, Kyphosis OMIM:607155
Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 1
Micrognathia, Thin upper lip vermilion, Smooth philtrum, Joint contracture, Slender nose, Scolios... OMIM:615419
Laron Syndrome
Limb undergrowth, Delayed skeletal maturation, Short long bone, Abnormal joint morphology OMIM:262500
Pfeiffer Syndrome Type 2
Deviation of the thumb, Choanal atresia, Small hand, Broad thumb, Toe syndactyly, Finger syndacty... ORPHA:93259
Auriculocondylar Syndrome 4
Micrognathia, Narrow mouth, Glossoptosis, Cleft palate OMIM:620457
Melanocytic Nevus Syndrome, Congenital
Broad nasal tip, Long philtrum, Anteverted nares, Open mouth, Narrow nasal ridge, Deep philtrum, ... OMIM:137550
Spondyloepimetaphyseal Dysplasia, Guo-Campeau Type
Clinodactyly of the 2nd finger, Velopharyngeal insufficiency, Micrognathia, Diaphyseal undertubul... OMIM:620663
Kyphoscoliosis-Lateral Tongue Atrophy-Hereditary Spastic Paraplegia Syndrome
Talipes equinovarus, Tongue atrophy, Knee flexion contracture, Kyphoscoliosis ORPHA:496689
Brachytelephalangic Chondrodysplasia Punctata
Hypoplastic cervical vertebrae, Abnormality of the costochondral junction, Stippling of the epiph... ORPHA:79345
Arthrogryposis, Distal, Type 3
Overlapping toe, Micrognathia, Cutaneous finger syndactyly, Talipes equinovarus, Short neck, Thor... OMIM:114300
Difference Of Sex Development-Intellectual Disability Syndrome
Downturned corners of mouth, Genu valgum, Short neck, Thin vermilion border, Spina bifida occulta... ORPHA:2983
Autosomal Recessive Robinow Syndrome
Toe syndactyly, Synostosis of carpal bones, Finger syndactyly, Broad thumb, Elbow dislocation, Op... ORPHA:1507
Stickler Syndrome, Type Ii
High, narrow palate, Depressed nasal bridge, Bifid uvula, Anteverted nares, Micrognathia, Joint h... OMIM:604841
Aarskog-Scott Syndrome
Cervical spine hypermobility, Hypoplasia of the odontoid process, Clinodactyly, Short neck, Short... OMIM:305400
Ehlers-Danlos Syndrome, Classic-Like, 2
Osteopenia, Hip dislocation, Knee dislocation, Micrognathia, Generalized joint hypermobility, Cer... OMIM:618000
Intellectual Developmental Disorder, X-Linked 30
Prominent fingertip pads, Thick upper lip vermilion, Anteverted nares, Prominent nasal bridge, Op... OMIM:300558
Hyperphosphatasia With Impaired Intellectual Development Syndrome 4
Wide nasal bridge, Broad nasal tip, Tented upper lip vermilion, Thin upper lip vermilion, Shorten... OMIM:615716
Diaphanospondylodysostosis
Depressed nasal ridge, Depressed nasal bridge, Unossified sacrum, Tracheomalacia, Delayed vertebr... OMIM:608022
Robinow Syndrome, Autosomal Dominant 1
Bifid distal phalanx of toe, Small hand, Broad thumb, Clinodactyly, Micrognathia, Short lingual f... OMIM:180700
Peho-Like Syndrome
Open mouth, Short nose, Tapered finger OMIM:617507
Smith-Kingsmore Syndrome
Short distal phalanx of finger, Rhizomelia, Depressed nasal bridge, Long philtrum, Open mouth, Th... OMIM:616638
Atelosteogenesis Type I
Platyspondyly, Rhizomelia, Joint dislocation, Absent or minimally ossified vertebral bodies, Micr... ORPHA:1190
Orofaciodigital Syndrome Iii
Bifid uvula, Postaxial foot polydactyly, Kyphosis, Bulbous nose, Microdontia, Short sternum, Post... OMIM:258850
Pierre Robin Sequence With Pectus Excavatum And Rib And Scapular Anomalies
Hypoplastic distal segments of scapulae, Micrognathia, Joint hypermobility, Abnormal rib morpholo... OMIM:602196
Acrofrontofacionasal Dysostosis
Short distal phalanx of finger, Broad thumb, Broad nasal tip, Micromelia, Abnormal epiphysis morp... ORPHA:1784
Onychodystrophy, Osteodystrophy, Impaired Intellectual Development, And Seizures Syndrome
Bilateral triphalangeal thumbs, Short distal phalanx of finger, Anteverted nares, Micrognathia, O... OMIM:619356
Kyphomelic Dysplasia
Limitation of joint mobility, Radial bowing, Micrognathia, Talipes equinovarus, Anterior rib cupp... OMIM:211350
Spinocerebellar Ataxia-Dysmorphism Syndrome
Genu recurvatum, Slender long bone, Downturned corners of mouth, Anteverted nares, Joint hypermob... ORPHA:1185
Marshall Syndrome
Radial bowing, Thick upper lip vermilion, Micrognathia, Absent frontal sinuses, Knee osteoarthrit... OMIM:154780
Orofaciodigital Syndrome Viii
Bifid nasal tip, Broad nasal tip, Short tibia, Polydactyly, Median cleft upper lip, High palate, ... OMIM:300484
Immunodeficiency 105
Reduced natural killer cell count, Lymphopenia, Hepatosplenomegaly, Pancytopenia, Impaired lympho... OMIM:619924
Vitamin D-Dependent Rickets, Type 2A
Delayed epiphyseal ossification, Carious teeth, Fibular bowing, Rickets, Bulging of the costochon... OMIM:277440
Raine Syndrome
Natal tooth, Long hallux, Micrognathia, Narrow mouth, Protruding tongue, Neonatal death, Bowing o... OMIM:259775
Omodysplasia 2
Wide nasal bridge, Bifid nasal tip, Depressed nasal bridge, Broad femoral neck, Short 1st metacar... OMIM:164745
Trisomy 8Q
Wide nasal bridge, Camptodactyly of finger, Joint stiffness, Micrognathia, Abnormal oral frenulum... ORPHA:1752
Klippel-Feil Syndrome 3, Autosomal Dominant
Cervical C5/C6 vertebrae fusion, Cervical C3/C4 vertebral fusion, Thoracic scoliosis OMIM:613702
Ischiocoxopodopatellar Syndrome With Or Without Pulmonary Arterial Hypertension
Sandal gap, Patellar hypoplasia, Hypoplasia of the lesser trochanter, Micrognathia, Patellar apla... OMIM:147891
Congenital Disorder Of Glycosylation, Type Iig
Small hand, Shallow acetabular fossae, Micrognathia, Narrow mouth, Talipes equinovarus, Short nec... OMIM:611209
Osteoglophonic Dysplasia
Hypoplastic scapulae, Broad thumb, Bowing of the long bones, Short neck, Broad phalanx, High pala... OMIM:166250
Meckel Syndrome, Type 8
Depressed nasal ridge, Cleft upper lip, Polydactyly, Talipes equinovarus, Short neck, Short nose,... OMIM:613885
Nievergelt Syndrome
Genu valgum, Talipes equinovarus, Radioulnar synostosis, Radial head subluxation, Metatarsus addu... OMIM:163400
Perlman Syndrome
Wide nasal bridge, High, narrow palate, Anteverted nares, Micrognathia, Open mouth, Abnormal uppe... ORPHA:2849
Stuve-Wiedemann Syndrome 1
Wide nasal base, Thin ribs, Carious teeth, Short tibia, Pursed lips, Micrognathia, Metaphyseal ra... OMIM:601559
Hamel Cerebro-Palato-Cardiac Syndrome
Wide nasal bridge, Bulbous nose, Micrognathia, Narrow mouth, Death in infancy, Arachnodactyly, Cl... ORPHA:93946
Neurodevelopmental Disorder With Hypotonia, Impaired Speech, And Behavioral Abnormalities
Thick lower lip vermilion, Long hallux, Anteverted nares, Tented upper lip vermilion, Thin upper ... OMIM:619854
Primary Microcephaly-Mild Intellectual Disability-Young-Onset Diabetes Syndrome
Slender finger, Clinodactyly, Downturned corners of mouth, Long philtrum, Anteverted nares, Micro... ORPHA:391408
Cortical Blindness-Intellectual Disability-Polydactyly Syndrome
Microretrognathia, Long philtrum, Abnormal palate morphology, Postaxial hand polydactyly, Short nose ORPHA:1389
Vitamin D Hydroxylation-Deficient Rickets, Type 1B
Delayed epiphyseal ossification, Rickets, Bulging epiphyses, Bone pain, Bulging of the costochond... OMIM:600081
Intellectual Disability-Balding-Patella Luxation-Acromicria Syndrome
Thoracolumbar scoliosis, Everted lower lip vermilion, Patellar subluxation, High palate, Hyperext... ORPHA:3041
4Q21 Microdeletion Syndrome
Depressed nasal bridge, Small hand, Toe syndactyly, Abnormality of the dentition, Micromelia, Dow... ORPHA:238750
Corpus Callosum, Agenesis Of, With Facial Anomalies And Robin Sequence
Depressed nasal bridge, Clinodactyly, Downturned corners of mouth, Anteriorly placed anus, Trache... OMIM:217980
Hypogonadotropic Hypogonadism 9 With Or Without Anosmia
Anosmia, Cleft lip, Clinodactyly, Bifid nose, Osteoporosis, Cleft palate, Hyposmia OMIM:614838
Hypophosphatasia, Infantile
Platyspondyly, Abnormality of the dentition, Metaphyseal cupping, Rachitic rosary, Unossified ver... OMIM:241500
Split-Hand/Foot Malformation 1
Finger aplasia, Broad hallux, Ectrodactyly, Clinodactyly, Foot oligodactyly, Triphalangeal thumb,... OMIM:183600
Intellectual Developmental Disorder, Autosomal Dominant 52
Depressed nasal bridge, Downturned corners of mouth, Prominent nose, Prominent nasal bridge, Ante... OMIM:617796
Spondyloepimetaphyseal Dysplasia, Aggrecan Type
Platyspondyly, Rhizomelia, Broad thumb, Short finger, Irregular epiphyses, Lumbar hyperlordosis, ... OMIM:612813
Intellectual Developmental Disorder With Language Impairment And With Or Without Autistic Features
Broad nasal tip, Open mouth, Short nose OMIM:613670
Osteogenesis Imperfecta, Type X
Thin ribs, Genu valgum, Micrognathia, Fibular bowing, Death in childhood, Bowing of the long bone... OMIM:613848
Mandibuloacral Dysplasia With Type B Lipodystrophy
Dental crowding, Delayed cranial suture closure, Flexion contracture, Progressive clavicular acro... OMIM:608612
ERI1-related disease
Velopharyngeal insufficiency, Micrognathia, Patellar dislocation, Finger joint hypermobility, Hig... OMIM:608739
Temple Syndrome Due To Maternal Uniparental Disomy Of Chromosome 14
Depressed nasal bridge, Small hand, Pyloric stenosis, Bifid uvula, Clinodactyly, Anteverted nares... ORPHA:96184
Acropectorovertebral Dysplasia
High, narrow palate, Short distal phalanx of finger, Broad thumb, Synostosis of carpal bones, Fin... ORPHA:957
Tetrasomy 18P
Long philtrum, Narrow mouth, Large hands, Thin vermilion border, Scoliosis, Short nose ORPHA:3307
Fetal Alcohol Syndrome
Anteverted nares, Micrognathia, Joint stiffness, Microdontia, Thin upper lip vermilion, Smooth ph... ORPHA:1915
Zechi-Ceide Syndrome
Wide nasal bridge, Short distal phalanx of finger, Sandal gap, Underdeveloped nasal alae, Cleft u... OMIM:612916
Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency
Wide nasal bridge, Depressed nasal bridge, Arthrogryposis-like hand anomaly, Clinodactyly, Downtu... ORPHA:369891
Oculomaxillofacial Dysostosis
Wide nasal bridge, Abnormality of the dentition, Tessier cleft, Abnormality of the nose, Underdev... ORPHA:1794
Bone Dysplasia, Lethal Holmgren Type
Depressed nasal ridge, Rhizomelia, Abnormal epiphysis morphology, Micromelia, Abnormal diaphysis ... ORPHA:1842
Kniest Dysplasia
Delayed epiphyseal ossification, Limitation of joint mobility, Hip contracture, Short neck, Lumba... OMIM:156550
Cataracts, Growth Hormone Deficiency, Sensory Neuropathy, Sensorineural Hearing Loss, And Skeletal Dysplasia
Delayed epiphyseal ossification, Hypoplasia of the odontoid process, Dislocation of the femoral h... OMIM:616007
Hypophosphatemic Rickets, X-Linked Dominant
Shortening of the talar neck, Abnormal pelvic girdle bone morphology, Rachitic rosary, Rickets, O... OMIM:307800
Dermatosparaxis Ehlers-Danlos Syndrome
Depressed nasal bridge, Osteopenia, Rickets, Joint dislocation, Osteomalacia, Abnormal joint morp... ORPHA:1901
Brachytelephalangy-Dysmorphism-Kallmann Syndrome
Short distal phalanx of finger, Anosmia, Joint stiffness, Genu valgum, Thin upper lip vermilion, ... ORPHA:1295
Fetal Akinesia Deformation Sequence 2
Wide nasal bridge, Micrognathia, Tented upper lip vermilion, High palate, Flexion contracture, Cl... OMIM:618388
Spondylocostal Dysostosis With Anal Atresia And Urogenital Anomalies
Thin ribs, Block vertebrae, Supernumerary vertebrae, Short ribs, Missing ribs, Rib fusion, Short ... OMIM:271520
Acrocallosal Syndrome
Toe syndactyly, Postaxial foot polydactyly, Finger syndactyly, Everted upper lip vermilion, Narro... OMIM:200990
Neurodevelopmental Disorder With Hypotonia, Facial Dysmorphism, And Brain Abnormalities
Wide nasal bridge, Scoliosis, Broad columella, Long philtrum, Delayed cranial suture closure, Del... OMIM:619383
Hypertrichosis Cubiti
Rhizomelia, Micromelia, Delayed skeletal maturation, Prominent nasal bridge, Joint hypermobility,... ORPHA:2220
Lethal Kniest-Like Dysplasia
Platyspondyly, Hypoplastic ilia, Flared metaphysis, Broad long bones, Mesomelic/rhizomelic limb s... ORPHA:2347
Distal Limb Deficiencies-Micrognathia Syndrome
Aplasia/Hypoplasia of the radius, Microretrognathia, Microglossia, Abnormality of the ankle, Olig... ORPHA:1307
Opsismodysplasia
Depressed nasal bridge, Broad thumb, Abnormal epiphysis morphology, Delayed skeletal maturation, ... ORPHA:2746
Osteogenesis Imperfecta, Type Vii
Delayed cranial suture closure, Multiple prenatal fractures, Protrusio acetabuli, Osteopenia, Ver... OMIM:610682
Multiple Synostoses Syndrome 1
Hypoplastic nasal septum, Carpal synostosis, Thick upper lip vermilion, Cutaneous finger syndacty... OMIM:186500
Robinow Syndrome, Autosomal Dominant 3
Broad thumb, Clinodactyly, Micrognathia, Short neck, Short nose, Syndactyly, Cleft lip, Downturne... OMIM:616894
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia
Broad thumb, Toe syndactyly, Shallow acetabular fossae, Hypoplastic iliac wing, Micrognathia, Tal... OMIM:609945
Orofaciodigital Syndrome Type 2
Natal tooth, Finger syndactyly, Short tibia, Velopharyngeal insufficiency, Micrognathia, Broad fi... ORPHA:2751
Acrodysostosis 2 With Or Without Hormone Resistance
Depressed nasal bridge, Cone-shaped epiphysis, Anteverted nares, Brachydactyly, Advanced ossifica... OMIM:614613
Microphthalmia-Microtia-Fetal Akinesia Syndrome
Limitation of joint mobility, Duodenal stenosis, Camptodactyly of finger, Micrognathia, Symphalan... ORPHA:2547
Lethal Faciocardiomelic Dysplasia
Short 5th finger, Microretrognathia, Microglossia, Short tibia, Short thumb, Sandal gap, Radial c... ORPHA:1972
Intellectual Developmental Disorder, X-Linked 21
Dental crowding, Tented upper lip vermilion, Open mouth, Joint hypermobility, Short nose OMIM:300143
Opsismodysplasia
Hypoplasia of the odontoid process, Short neck, Anterior rib cupping, Flat acetabular roof, Hypop... OMIM:258480
Microcephaly, Short Stature, And Limb Abnormalities
Patellar hypoplasia, Delayed skeletal maturation, 11 pairs of ribs, Patellar aplasia, Radioulnar ... OMIM:617604
Trisomy 12P
Wide nasal bridge, Downturned corners of mouth, Delayed skeletal maturation, Micrognathia, Short ... ORPHA:1699
Sponastrime Dysplasia
Delayed epiphyseal ossification, Shallow acetabular fossae, Genu valgum, Aplasia of the nasal bon... ORPHA:93357
9q subtelomeric deletion syndrome
Anteverted nares, Protruding tongue, Short nose DECIPHER:52
Pfeiffer Syndrome Type 3
Choanal atresia, Small hand, Broad thumb, Toe syndactyly, Finger syndactyly, Depressed nasal brid... ORPHA:93260
Hypertelorism, Microtia, Facial Clefting Syndrome
Short 5th finger, Tessier cleft, Abnormal vertebral morphology, Broad nasal tip, Abnormality of t... OMIM:239800
Cartilage-Hair Hypoplasia
Small hand, Bowing of the long bones, Short neck, Diaphyseal undertubulation, Metaphyseal dysplas... ORPHA:175
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome
Enlarged metaphyses, Abnormal ilium morphology, Postaxial foot polydactyly, Broad phalanges of th... ORPHA:508533
Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, And Genital Anomalies
Epiphyseal dysplasia, Depressed nasal bridge, Osteopenia, Delayed skeletal maturation, Metaphysea... OMIM:614732
Temple Syndrome
Depressed nasal bridge, Small hand, Bifid uvula, Scoliosis, Clinodactyly, Anteverted nares, Micro... OMIM:616222
Simpson-Golabi-Behmel Syndrome
Broad thumb, Toe syndactyly, Finger syndactyly, Talipes equinovarus, Short neck, Short foot, Shor... ORPHA:373
Geleophysic Dysplasia 3
Wide nasal bridge, Depressed nasal bridge, Epiphyseal dysplasia, Long philtrum, Delayed skeletal ... OMIM:617809
Apert Syndrome
Delayed epiphyseal ossification, Lambdoidal craniosynostosis, Broad thumb, Synostosis of carpal b... OMIM:101200
Greenberg Dysplasia
Fractured rib, Postaxial foot polydactyly, Supernumerary vertebral ossification centers, Microgna... OMIM:215140
Coloboma Of Macula And Skeletal Anomalies
Genu valgum, Coxa valga, Hallux valgus, Recurrent patellar dislocation, Cleft palate, Contracture... OMIM:216800
Ehlers-Danlos Syndrome, Dermatosparaxis Type
Gingival bleeding, Osteopenia, Short toe, Recurrent mandibular subluxations, Micrognathia, Gingiv... OMIM:225410
Auriculocondylar Syndrome 2A
Mandibular condyle aplasia, Microglossia, Dental malocclusion, Dental crowding, Micrognathia, Nar... OMIM:614669
Non-Distal Duplication 13Q
Abnormality of the dentition, Long philtrum, Micrognathia, Arachnodactyly, Everted lower lip verm... ORPHA:1702
Joubert Syndrome 18
Trident pelvis, Joint hypermobility, Bowing of the long bones, Talipes equinovarus, Postaxial pol... OMIM:614815
Carey-Fineman-Ziter Syndrome
Ulnar deviation of finger, Scoliosis, Long philtrum, Aplasia/Hypoplasia of the tongue, Anteverted... ORPHA:1358
Foxp1 Syndrome
Recurrent upper respiratory tract infections, Broad nasal tip, Clinodactyly, Prominent fingertip ... ORPHA:391372
Orofaciodigital Syndrome Iv
Toe syndactyly, Short tibia, Clinodactyly, Short finger, Hamartoma of tongue, Lobulated tongue, M... OMIM:258860
Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly
Short distal phalanx of finger, Hypoplastic scapulae, Short uvula, Micromelia, Agenesis of perman... OMIM:614091
Gomez-Lopez-Hernandez Syndrome
Anteverted nares, Smooth philtrum, Wormian bones, Short nose, Thin vermilion border, Craniosynost... OMIM:601853
Stickler Syndrome, Type I
Micrognathia, Arachnodactyly, Beaking of vertebral bodies, Pierre-Robin sequence, Abnormal femora... OMIM:108300
Apert Syndrome
Choanal atresia, Depressed nasal bridge, Broad thumb, Toe syndactyly, Micromelia, Finger syndacty... ORPHA:87
Mesomelic Dwarfism, Reinhardt-Pfeiffer Type
Ulnar deviation of finger, Synostosis of carpal bones, Micromelia, Elbow dislocation, Abnormal ti... ORPHA:2634
Intellectual Developmental Disorder, Autosomal Dominant 44, With Microcephaly
Wide nasal bridge, Depressed nasal bridge, Dental crowding, Sandal gap, Long philtrum, Bulbous no... OMIM:617061
Immunodeficiency 21
Reduced natural killer cell count, Aplastic anemia, Lymphopenia, Anemia, Neutropenia, B lymphocyt... OMIM:614172
Oculofaciocardiodental Syndrome
Tooth malposition, Genu valgum, Radioulnar synostosis, Submucous cleft hard palate, Oligodontia, ... ORPHA:2712
Hypoglossia-Hypodactyly Syndrome
Wide nasal bridge, Aplasia/Hypoplasia of fingers, Short distal phalanx of finger, Finger syndacty... ORPHA:989
Vitamin D Hydroxylation-Deficient Rickets, Type 1A
Delayed epiphyseal ossification, Subperiosteal bone resorption, Rickets, Delayed eruption of teet... OMIM:264700
Acro-Renal-Mandibular Syndrome
Thin ribs, Hypoplastic scapulae, Finger syndactyly, Rudimentary fibula, Micrognathia, Short neck,... ORPHA:958
Intellectual Disability-Brachydactyly-Pierre Robin Syndrome
Abnormality of canine, Aplasia of the distal phalanx of the 5th toe, Microglossia, Underdeveloped... ORPHA:364577
3C Syndrome
Wide nasal bridge, Depressed nasal bridge, High, narrow palate, Finger syndactyly, Intestinal mal... ORPHA:7
Rnf13-Related Severe Early-Onset Epileptic Encephalopathy
Delayed skeletal maturation, Narrow nasal bridge, Wrist hypermobility, Joint hypermobility, Hypod... ORPHA:544503
Crane-Heise Syndrome
Aplastic clavicle, Hypoplastic scapulae, Toe syndactyly, Short distal phalanx of finger, Finger s... ORPHA:1512
Mesomelic Dysplasia, Savarirayan Type
High iliac wing, Elbow dislocation, Hypoplasia of proximal radius, Fibular aplasia, Glenoid fossa... ORPHA:85170
Neurodevelopmental Disorder With Seizures, Spasticity, And Complete Or Partial Agenesis Of The Corpus Callosum
Wide nasal bridge, Narrow palate, Long philtrum, Thoracic kyphosis, Micrognathia, Narrow mouth, W... OMIM:620250
Myhre Syndrome
Limitation of joint mobility, Clinodactyly, Hypoplastic iliac wing, Overlapping toe, Enlarged ver... OMIM:139210
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 3
Lambdoidal craniosynostosis, Depressed nasal bridge, Abnormality of the dentition, Osteopenia, Do... OMIM:615398
Ritscher-Schinzel Syndrome 2
Short distal phalanx of finger, Prominent fingertip pads, Broad hallux, Camptodactyly of finger, ... OMIM:300963
Acrofacial Dysostosis, Catania Type
Tessier cleft, Abnormality of the dentition, Small hand, Microretrognathia, Carious teeth, Finger... ORPHA:1786
Split hand/foot malformation 1 (SHFM1)
Toe syndactyly, Cutaneous finger syndactyly, 2-3 toe syndactyly, Median cleft upper lip, Split ha... DECIPHER:46
Intellectual Developmental Disorder With Cardiac Defects And Dysmorphic Facies
Wide nasal bridge, Depressed nasal bridge, Long philtrum, Intestinal malrotation, Overlapping toe... OMIM:618316
Dyssegmental Dysplasia, Rolland-Desbuquois Type
Joint contracture of the hand, Limitation of joint mobility, Micromelia, Broad long bones, Microg... OMIM:224400
Achondrogenesis, Type Ib
Hypoplastic ilia, Micromelia, Absent or minimally ossified vertebral bodies, Short ribs, Stillbirth OMIM:600972
Mosaic Trisomy 20
Cleft lip, Clinodactyly, Spinal canal stenosis, Micrognathia, Down-sloping shoulders, Vertebral s... ORPHA:1724
Frontometaphyseal Dysplasia 2
Broad thumb, Hip contracture, Talipes equinovarus, High palate, Dislocated radial head, Short met... OMIM:617137
9Q21.13 Microdeletion Syndrome
Downturned corners of mouth, Abnormal tongue morphology, Wide nasal ridge, Polydactyly, Vertebral... ORPHA:531151
Microphthalmia, Syndromic 12
Wide nasal bridge, Broad nasal tip, Intestinal malrotation, Micrognathia, Neonatal death, Cleft p... OMIM:615524
Phocomelia, Schinzel Type
Finger aplasia, High, narrow palate, Radial bowing, Micromelia, Aplasia/Hypoplasia of the sacrum,... ORPHA:2879
3P25.3 Microdeletion Syndrome
Broad thumb, Overlapping toe, Micrognathia, 2-3 finger syndactyly, High, narrow palate, Downturne... ORPHA:435638
Acromesomelic Dysplasia 2C
Shortening of all middle phalanges of the fingers, Hip dislocation, Short tibia, Radial bowing, S... OMIM:201250
Neurodevelopmental Disorder With Central And Peripheral Motor Dysfunction
Wide nasal bridge, 11 pairs of ribs, Micrognathia, Prominent nasal bridge, Glossoptosis, Cleft pa... OMIM:618356
X-Linked Hypophosphatemia
Limitation of joint mobility, Genu valgum, Bowing of the long bones, Tooth abscess, Vertebral hyp... ORPHA:89936
Robin Sequence With Cleft Mandible And Limb Anomalies
Short tibia, Micrognathia, Narrow mouth, Talipes equinovarus, Short hallux, High palate, Mesomeli... OMIM:268305
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome
Atlantoaxial dislocation, Carious teeth, Dysplasia of the femoral head, Micrognathia, Arachnodact... ORPHA:536467
Orofaciodigital Syndrome Type 5
High, narrow palate, Bifid uvula, Postaxial foot polydactyly, Postaxial polysyndactyly of foot, A... ORPHA:2919
5Q14.3 Microdeletion Syndrome
Toe syndactyly, Anteverted nares, Open mouth, Short philtrum, Short nose ORPHA:228384
Gm1-Gangliosidosis, Type Ii
Platyspondyly, Thoracolumbar kyphosis, Joint stiffness, Gingival overgrowth, Narrow mouth, Protru... OMIM:230600
Premature Aging Syndrome, Penttinen Type
Thin ribs, Delayed cranial suture closure, Micrognathia, Aplasia of the nasal bone, Flexion contr... OMIM:601812
Hirschsprung Disease, Cardiac Defects, And Autonomic Dysfunction
Interphalangeal thumb joint contracture, Bulbous nose, Prominent nasal bridge, Aganglionic megaco... OMIM:613870
Acromesomelic Dysplasia 4
Radial bowing, Prominent deltoid tuberosities, Genu valgum, Beaking of vertebral bodies, Broad to... OMIM:619636
Hypophosphatemic Rickets With Hypercalciuria, Hereditary
Delayed epiphyseal ossification, Rickets, Bulging epiphyses, Bone pain, Bulging of the costochond... OMIM:241530
Blepharonasofacial Malformation Syndrome
Wide nasal bridge, Finger syndactyly, Underdeveloped nasal alae, Long philtrum, Tooth agenesis, J... ORPHA:1252
Chronic Recurrent Multifocal Osteomyelitis 2, With Periostitis And Pustulosis
Osteopenia, Periostitis, Broad ribs, Osteomyelitis, Joint swelling, Flaring of rib cage, Stomatit... OMIM:612852
Pallister-Hall Syndrome
Toe syndactyly, Postaxial foot polydactyly, Natal tooth, Distal shortening of limbs, Neonatal dea... OMIM:146510
Immunodeficiency 13
Lymphopenia, Decreased CD4:CD8 ratio, Decreased proportion of CD4-positive helper T cells, B lymp... OMIM:615518
Temtamy Preaxial Brachydactyly Syndrome
Talon cusp, Clinodactyly, Diastema, Carpal synostosis, Microdontia, Radioulnar synostosis, Deep p... OMIM:605282
Cutis Laxa, Autosomal Recessive, Type Iia
Congenital hip dislocation, Carious teeth, Long philtrum, Anteverted nares, Narrow mouth, Joint h... OMIM:219200
Thanatophoric Dysplasia Type 1
Platyspondyly, Depressed nasal bridge, Hypoplastic ilia, Micromelia, Joint stiffness, Femoral bow... ORPHA:1860
Anophthalmia Plus Syndrome
Tessier cleft, Choanal atresia, Deviation of finger, Bilateral cleft palate, Vertebral segmentati... ORPHA:1104
Acromesomelic Dysplasia 3
Aplasia of the proximal phalanx of the 2nd finger, Widened proximal tibial metaphyses, Short 1st ... OMIM:609441
Tetrasomy 5P
Wide nasal bridge, Long philtrum, Overlapping toe, Micrognathia, Anteverted nares, Talipes equino... ORPHA:3309
Desbuquois Dysplasia 2
Epiphyseal dysplasia, Broad thumb, Short neck, Radial head subluxation, Flat acetabular roof, Adv... OMIM:615777
Spondyloepiphyseal Dysplasia, Nishimura Type
Delayed epiphyseal ossification, Small hand, Brachydactyly, Cone-shaped epiphyses of the phalange... OMIM:618618
Cleidocranial Dysplasia 1
Hypoplastic scapulae, Absent paranasal sinuses, Hypoplastic iliac wing, Micrognathia, Delayed pub... OMIM:119600
Orofaciodigital Syndrome X
Finger aplasia, Depressed nasal bridge, Preaxial hand polydactyly, Fibular aplasia, Coalescence o... OMIM:165590
Oculodentodigital Dysplasia
Carious teeth, Clinodactyly, Joint contracture of the 5th finger, High palate, Hip dislocation, S... OMIM:164200
Cerebrofaciothoracic Dysplasia
Cleft upper lip, Vertebral segmentation defect, Rib fusion, Short neck, Bifid ribs, Short nose, H... ORPHA:1394
Developmental Delay With Variable Intellectual Impairment And Behavioral Abnormalities
Depressed nasal bridge, Sandal gap, Downturned corners of mouth, Bulbous nose, Open mouth, Tented... OMIM:618430
Dysosteosclerosis
Natal tooth, Absent paranasal sinuses, Sclerosis of hand bone, Micrognathia, Increased interverte... OMIM:224300
Coxoauricular Syndrome
Abnormal pelvic girdle bone morphology, Micromelia, Abnormal femur morphology, Reduced bone miner... ORPHA:1508
Spondylodysplastic Ehlers-Danlos Syndrome
Abnormal vertebral morphology, Subluxation of the small joints of the hand, Micrognathia, Dysplas... ORPHA:536471
Trisomy 20P
Finger syndactyly, Micrognathia, Short neck, Everted lower lip vermilion, Short nose, Downturned ... ORPHA:261318