Not currently registered for phenotyping at IMPC

Phenotyping is currently not planned for a knockout strain of this gene.

Gene Summary

Name:
cellular communication network factor 2
Synonyms:
Fisp12,  Ctgf,  Hcs24,  hypertrophic chondrocyte-specific gene product 24,  Ccn2

IMPC Data Collections

  • No Body Weight Data
  • No Embryo Imaging Data
  • No Viability Data

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.

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.

Phenotype associated images not available

Human diseases caused by Ccn2 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 associated to Ccn2 by orthology or direct annotation.

The table below shows human diseases predicted to be associated to Ccn2 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Granulomas, Congenital Cerebral
Neonatal death OMIM:306300
Genitourinary Tract Anomalies
Neonatal death OMIM:305690
Cystic Angiomatosis Of Bone, Diffuse
Cystic angiomatosis of bone OMIM:123880
Superior Transverse Scapular Ligament, Calcification Of, Familial
Ectopic ossification in ligament tissue OMIM:601708
Atelosteogenesis, Type Ii
Lacunar halos around chondrocytes, Cleft palate, Horizontal sacrum, Depressed nasal bridge, Platy... OMIM:256050
Mesomelic Dwarfism-Cleft Palate-Camptodactyly Syndrome
Vertebral segmentation defect, Cleft palate, Abnormal hip bone morphology, Thin vermilion border,... ORPHA:2631
Metaphyseal Dysplasia, Braun-Tinschert Type
Upper limb metaphyseal widening, Osteopenia, Humerus varus, Thin bony cortex, Hypoplasia of the u... ORPHA:85188
Otopalatodigital Syndrome, Type Ii
Pectus excavatum, Radial deviation of the 2nd finger, Cleft palate, Femoral bowing, Depressed nas... OMIM:304120
Odontochondrodysplasia 1
Respiratory distress, Cone-shaped epiphyses of the phalanges of the hand, Platyspondyly, Micromel... OMIM:184260
Growth Delay-Hydrocephaly-Lung Hypoplasia Syndrome
Tibial bowing, Radial bowing, Abnormally ossified vertebrae, Intestinal malrotation, Micrognathia... ORPHA:3035
Kniest Dysplasia
Respiratory distress, Pectus excavatum, Cleft palate, Depressed nasal bridge, Short neck, Platysp... OMIM:156550
Multiple Epiphyseal Dysplasia Type 4
High palate, Short metacarpal, Cleft palate, Upper limb undergrowth, Arthralgia of the hip, Abnor... ORPHA:93307
Spondyloepimetaphyseal Dysplasia, Missouri Type
Coxa vara, Tibial bowing, Metaphyseal cupping, Radial bowing, Flared iliac wing, Femoral bowing, ... OMIM:602111
Spondylometaphyseal Dysplasia, Kozlowski Type
Abnormal humeral metaphysis morphology, Platyspondyly, Pectus carinatum, Premature osteoarthritis... ORPHA:93314
Atelosteogenesis, Type I
Aplasia/Hypoplasia of the ulna, Cleft palate, Depressed nasal bridge, Short neck, 11 pairs of rib... OMIM:108720
Dyssegmental Dysplasia, Silverman-Handmaker Type
Narrow mouth, Talipes equinovarus, Short long bone, Malar flattening, Micrognathia, Neonatal deat... OMIM:224410
Dysosteosclerosis
High palate, Short sternum, Osteopenia, Platyspondyly, Delayed eruption of teeth, Sclerotic scapu... OMIM:224300
Achondrogenesis Type 2
Narrow chest, Abnormal bone ossification, Unossified sacrum, Short ribs, Delayed proximal femoral... ORPHA:93296
Metatropic Dysplasia
Halberd-shaped pelvis, Depressed nasal bridge, Cone-shaped epiphysis, Platyspondyly, Hyperplasia ... OMIM:156530
Spondyloepiphyseal Dysplasia With Atlantoaxial Instability
Lumbar hyperlordosis, Atlantoaxial dislocation, Os odontoideum, Spondylolysis, Atlantoaxial insta... OMIM:600561
Van Den Ende-Gupta Syndrome
High palate, Pectus excavatum, Cleft palate, Craniosynostosis, Femoral bowing, Depressed nasal br... OMIM:600920
Stuve-Wiedemann Syndrome 1
Apnea, Pursed lips, Femoral bowing, Short neck, Ulnar deviation of finger, Carious teeth, Single ... OMIM:601559
Atelosteogenesis, Type Iii
Cleft palate, Horizontal sacrum, Depressed nasal bridge, Tombstone-shaped proximal phalanges, Sho... OMIM:108721
Spondylometaphyseal Dysplasia With Cone-Rod Dystrophy
Metaphyseal irregularity, Tibial bowing, Metaphyseal cupping, Coxa vara, Dental malocclusion, Nar... OMIM:608940
Lethal Congenital Contracture Syndrome 3
Multiple joint contractures, Respiratory insufficiency, Neonatal death, Arthrogryposis multiplex ... OMIM:611369
Dyggve-Melchior-Clausen Disease
Cone-shaped epiphyses of the phalanges of the hand, Prominent sternum, Femoral bowing, Barrel-sha... OMIM:223800
Ulnar Hemimelia
Aplasia/Hypoplasia of the ulna, Upper limb phocomelia, Radial club hand, Glenoid fossa hypoplasia... ORPHA:93320
Otospondylomegaepiphyseal Dysplasia
Cleft palate, Abnormally ossified vertebrae, Depressed nasal bridge, Platyspondyly, Short neck, F... ORPHA:1427
Osteoporosis
Osteoporosis OMIM:166710
Arthrogryposis, Distal, With Mental Retardation And Characteristic Facies
Distal arthrogryposis, Respiratory insufficiency, Respiratory failure, Arthrogryposis multiplex c... OMIM:208081
Renal Dysplasia-Limb Defects Syndrome
High palate, Respiratory distress, Short sternum, Hypoplasia of the radius, Depressed nasal bridg... OMIM:266910
Léri-Weill Dyschondrosteosis
Abnormality of femur morphology, Hypoplasia of the radius, Depressed nasal bridge, Cone-shaped ep... ORPHA:240
Microcephalic Osteodysplastic Primordial Dwarfism, Type Ii
Short 1st metacarpal, Cone-shaped epiphysis, Microdontia, Proximal femoral epiphysiolysis, Distal... OMIM:210720
Acromesomelic Dysplasia 4
Broad phalanx, Prominent sternum, Platyspondyly, Broad finger, Genu valgum, Rhizomelia, Sandal ga... OMIM:619636
Campomelic Dysplasia
Poorly ossified cervical vertebrae, High palate, Respiratory distress, Apnea, Cleft palate, Depre... OMIM:114290
Phocomelia-Ectrodactyly, Ear Malformation, Deafness, And Sinus Arrhythmia
Aplasia/Hypoplasia of the thumb, Anterior vertebral fusion, Malar flattening, Long clavicles, Mes... OMIM:171480
Short-Rib Thoracic Dysplasia 18 With Polydactyly
Radial bowing, 2-3 toe syndactyly, Short ribs, Postaxial polydactyly, Preaxial polydactyly, Intes... OMIM:617866
Metatropic Dysplasia
Narrow chest, Kyphosis, Abnormal enchondral ossification, Halberd-shaped pelvis, Clinodactyly of ... ORPHA:2635
Kyphomelic Dysplasia
Cleft palate, Femoral bowing, Depressed nasal bridge, Platyspondyly, Micromelia, Dumbbell-shaped ... OMIM:211350
Diaphragmatic Defect-Limb Deficiency-Skull Defect Syndrome
Aplasia/Hypoplasia of the ulna, Abnormality of femur morphology, Clinodactyly of the 5th finger, ... ORPHA:2141
Metaphyseal Modeling Abnormality, Skin Lesions, And Spastic Paraplegia
Increased bone mineral density OMIM:250500
Osteogenesis Imperfecta, Type Iii
Kyphosis, Tibial bowing, Recurrent fractures, Dentinogenesis imperfecta, Wide anterior fontanel, ... OMIM:259420
12q14 microdeletion syndrome
Osteopoikilosis DECIPHER:76
Arthrogryposis Multiplex Congenita 1, Neurogenic, With Myelin Defect
High palate, Hip contracture, Ankle flexion contracture, Internally rotated shoulders, Talipes eq... OMIM:617468
Catel-Manzke Syndrome
Joint stiffness, Clinodactyly of the 5th finger, Pectus excavatum, Radial deviation of the 2nd fi... ORPHA:1388
Pulmonary Hypoplasia, Primary
Neonatal death OMIM:265430
Marshall Syndrome
Macrodontia of permanent maxillary central incisor, Cleft palate, Depressed nasal bridge, Clinoda... OMIM:154780
Achondrogenesis, Type Ia
Hypoplastic sacrum, Hypoplasia of the radius, Depressed nasal bridge, Barrel-shaped chest, Short ... OMIM:200600
Osteogenesis Imperfecta, Type Ii
Recurrent fractures, Tibial bowing, Convex nasal ridge, Thin ribs, Respiratory insufficiency, Pla... OMIM:166210
Leri-Weill Dyschondrosteosis
High palate, Hypoplasia of the radius, Abnormality of the humerus, Dorsal subluxation of ulna, Hy... OMIM:127300
Neurodevelopmental Disorder With Spasticity, Hypomyelinating Leukodystrophy, And Brain Abnormalities
Unilateral wrist flexion contracture, Talipes equinovarus, Micrognathia, Overlapping fingers, Pul... OMIM:616531
Campomelic Dysplasia
Poorly ossified cervical vertebrae, Cleft palate, Femoral bowing, Depressed nasal bridge, Short n... ORPHA:140
Metaphyseal Acroscyphodysplasia
Cone-shaped epiphyses of the phalanges of the hand, Craniosynostosis, Platyspondyly, Biconcave ve... OMIM:250215
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type
Cleft palate, Osteopenia, Short neck, Platyspondyly, Short nose, Pulmonary hypoplasia, Thoracic h... OMIM:616897
Multiple Synostoses Syndrome 1
Pectus excavatum, Short sternum, Hypoplastic nasal septum, Clinodactyly of the 4th toe, Short phi... OMIM:186500
Vitamin D Hydroxylation-Deficient Rickets, Type 1A
Metaphyseal irregularity, Tibial bowing, Subperiosteal bone resorption, Delayed epiphyseal ossifi... OMIM:264700
Hydrocephalus With Associated Malformations
Tibial bowing, Intestinal malrotation, Micrognathia, Short lower limbs, Pulmonary hypoplasia, Abn... OMIM:236640
Weismann-Netter Syndrome
Kyphosis, Abnormality of femur morphology, Tibial bowing, Abnormal morphology of ulna, Abnormal h... ORPHA:3344
Lethal Congenital Contracture Syndrome Type 1
Recurrent fractures, Abnormal hip bone morphology, Micrognathia, Short neck, Abnormal form of the... ORPHA:1486
Spondyloepiphyseal Dysplasia With Congenital Joint Dislocations
High palate, Barrel-shaped chest, Short neck, Hypoplasia of the capital femoral epiphysis, Delaye... OMIM:143095
Vitamin D Hydroxylation-Deficient Rickets, Type 1B
Metaphyseal irregularity, Tibial bowing, Delayed epiphyseal ossification, Bowing of the legs, Rec... OMIM:600081
Radioulnar Synostosis-Microcephaly-Scoliosis Syndrome
Clinodactyly of the 5th finger, Abnormality of the dentition, Scoliosis, Pectus carinatum, Radiou... ORPHA:3268
Greenberg Dysplasia
Anterior rib punctate calcifications, Short metacarpal, Depressed nasal ridge, Horizontal sacrum,... OMIM:215140
Platyspondylic Dysplasia, Torrance Type
Narrow chest, Short distal phalanx of finger, Metaphyseal cupping, Cleft palate, Malar flattening... ORPHA:85166
Vitamin D-Dependent Rickets, Type 2A
Metaphyseal irregularity, Tibial bowing, Subperiosteal bone resorption, Delayed epiphyseal ossifi... OMIM:277440
Melorheostosis, Isolated
Increased bone mineral density, Hyperostosis OMIM:155950
Ritscher-Schinzel Syndrome 3
Wide anterior fontanel, Shortening of all distal phalanges of the fingers, Short 1st metacarpal, ... OMIM:619135
Thanatophoric Dysplasia, Type I
Narrow chest, Wide-cupped costochondral junctions, Small abnormally formed scapulae, Metaphyseal ... OMIM:187600
Osteogenesis Imperfecta, Type Viii
Femoral bowing, Barrel-shaped chest, Platyspondyly, Osteopenia, Decreased calvarial ossification,... OMIM:610915
Robinow Syndrome, Autosomal Recessive 1
Dental crowding, Wide mouth, Pectus excavatum, Triangular mouth, Hypoplastic sacrum, Hypoplasia o... OMIM:268310
Atelosteogenesis Type Ii
Broad phalanx, Cleft palate, Short neck, Micromelia, Upper limb undergrowth, Dumbbell-shaped femu... ORPHA:56304
Diaphanospondylodysostosis
Respiratory distress, Unossified sacrum, Cleft palate, Depressed nasal ridge, Depressed nasal bri... OMIM:608022
Kniest-Like Dysplasia With Pursed Lips And Ectopia Lentis
High palate, Joint stiffness, Tibial bowing, Narrow mouth, Pursed lips, Flexion contracture, Abse... OMIM:245160
Dyssegmental Dysplasia, Silverman-Handmaker Type
Miscarriage, Cleft palate, Short neck, Micromelia, Anisospondyly, Pulmonary hypoplasia, Short lon... ORPHA:1865
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 1, With Or Without Fractures
High palate, Cleft palate, Delayed proximal femoral epiphyseal ossification, Short neck, 11 pairs... OMIM:271640
Pyknoachondrogenesis
Increased bone mineral density OMIM:265880
Diastrophic Dysplasia
Abnormal clavicle morphology, Cleft palate, Depressed nasal bridge, Micromelia, Symphalangism aff... ORPHA:628
Multiple Epiphyseal Dysplasia, Al-Gazali Type
Delayed epiphyseal ossification, Pectus excavatum, Spindle-shaped finger, Triangular mouth, Cutan... ORPHA:166024
Weismann-Netter Syndrome
Kyphosis, Calvarial hyperostosis, Horizontal sacrum, Scoliosis, Fibular bowing, Lateral femoral b... OMIM:112350
Thanatophoric Dysplasia
Narrow chest, Kyphosis, Joint stiffness, Depressed nasal bridge, Hip dysplasia, Platyspondyly, Br... ORPHA:2655
Marshall-Smith Syndrome
High palate, Apnea, Airway obstruction, Pectus excavatum, Short sternum, Slender finger, Prominen... OMIM:602535
Microcephaly-Micromelia Syndrome
Narrow chest, Forearm undergrowth, Narrow mouth, Convex nasal ridge, Talipes equinovarus, Cleft p... OMIM:251230
Melnick-Needles Syndrome
Cone-shaped epiphyses of the phalanges of the hand, Pectus excavatum, Cleft palate, Delayed erupt... OMIM:309350
Spondylometaphyseal Dysplasia, 'Corner Fracture' Type
High palate, Corner fracture of metaphysis, Abnormality of the dentition, Platyspondyly, Short ne... ORPHA:93315
Pallister-Hall-Like Syndrome
Cleft palate, Short ribs, Depressed nasal bridge, Micrognathia, Micromelia, Postaxial hand polyda... OMIM:241800
Cartilage-Hair Hypoplasia
Depressed nasal ridge, Abnormally ossified vertebrae, Depressed nasal bridge, Short neck, Microme... ORPHA:175
Hernia, Anterior Diaphragmatic
Neonatal death OMIM:306950
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14
Flexion contracture of thumb, Pectus excavatum, Prominent sternum, Miscarriage, Absent glenoid fo... ORPHA:96334
Acro-Renal-Mandibular Syndrome
High palate, Abnormal clavicle morphology, Aplasia/Hypoplasia of the tongue, Hypoplasia of the ra... ORPHA:958
Spondylometaphyseal Dysplasia, X-Linked
Hip contracture, Sclerosis of skull base, Kyphosis, Hyperextensibility of the finger joints, Resp... OMIM:313420
Tarp Syndrome
Apnea, Pectus excavatum, Short sternum, Cleft palate, Single transverse palmar crease, Tongue nod... ORPHA:2886
Momo Syndrome
High palate, Thick upper lip vermilion, Dental malocclusion, Taurodontia, Short sternum, Abnormal... ORPHA:2563
Spondyloepimetaphyseal Dysplasia, Missouri Type
Metaphyseal irregularity, Tibial bowing, Femoral bowing, Flared metaphysis, Genu varum, Pear-shap... ORPHA:93356
Thrombocytopenia-Absent Radius Syndrome
Absent thumb, Cleft palate, Hypoplasia of the radius, Femoral bowing, Hypoplasia of the ulna, Pat... OMIM:274000
Ophthalmomandibulomelic Dysplasia
Radial bowing, Temporomandibular joint ankylosis, Lateral humeral condyle aplasia, Abnormal thora... OMIM:164900
Gordon Syndrome
High palate, Clinodactyly of the 5th finger, Pectus excavatum, Cleft palate, Camptodactyly of fin... ORPHA:376
Antley-Bixler Syndrome Without Genital Anomalies Or Disordered Steroidogenesis
Narrow chest, Wide anterior fontanel, Flexion contracture, Malar flattening, Arachnodactyly, Femo... OMIM:207410
Geroderma Osteodysplasticum
Irregular vertebral endplates, Beaking of vertebral bodies, Kyphoscoliosis, Tibial bowing, Period... OMIM:231070
Hypophosphatemic Rickets With Hypercalciuria, Hereditary
Metaphyseal irregularity, Tibial bowing, Delayed epiphyseal ossification, Bowing of the legs, Rec... OMIM:241530
Ulbright-Hodes Syndrome
Aplasia/Hypoplasia of the ulna, High palate, Respiratory distress, Short sternum, Hypoplasia of t... ORPHA:3404
Congenital Absence Of Upper Arm And Forearm With Hand Present
Cleft palate, Abnormal hip bone morphology, Upper limb phocomelia, Abnormality of the vertebral c... ORPHA:294975
Vitamin D-Dependent Rickets, Type 2B, With Normal Vitamin D Receptor
Rickets of the lower limbs, Metaphyseal irregularity, Tibial bowing, Delayed epiphyseal ossificat... OMIM:600785
Shox-Related Short Stature
Forearm undergrowth, High palate, Tibial bowing, Micrognathia, Short neck, Scoliosis, Genu valgum... ORPHA:314795
Rhizomelic Skeletal Dysplasia With Or Without Pelger-Huet Anomaly
Femoral bowing, Depressed nasal bridge, Platyspondyly, Broad hallux, Genu valgum, Rhizomelia, Ovo... OMIM:618019
Endosteal Hyperostosis, Worth Type
Craniofacial hyperostosis, Torus palatinus, Clavicular sclerosis, Abnormal form of the vertebral ... ORPHA:2790
Multiple Epiphyseal Dysplasia, Lowry Type
Dislocated radial head, Epiphyseal dysplasia, Abnormal sternum morphology, Delayed epiphyseal oss... ORPHA:166016
Fibular Hemimelia
Craniosynostosis, Talipes equinovalgus, Structural foot deformity, Arthralgia of the hip, Abnorma... ORPHA:93323
Acrocapitofemoral Dysplasia
Cone-shaped epiphyses of the phalanges of the hand, Pectus excavatum, Hypoplasia of the radius, C... OMIM:607778
Satb2-Associated Syndrome Due To A Chromosomal Rearrangement
High palate, Slender finger, Cleft palate, Abnormality of the dentition, Short philtrum, Short ne... ORPHA:251028
Imperforate Oropharynx-Costovertebral Anomalies Syndrome
Respiratory distress, Clinodactyly of the 5th finger, Aplasia/Hypoplasia of the tongue, Arachnoda... ORPHA:2759
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly
Narrow chest, Respiratory distress, Short ribs, Hypoplasia of the radius, Hypoplastic ilia, Posta... OMIM:617895
Congenital Arthrogryposis With Anterior Horn Cell Disease
High palate, Kyphosis, Talipes equinovarus, Hand clenching, Areflexia of lower limbs, Retrognathi... OMIM:611890
Anauxetic Dysplasia 3
Pectus excavatum, Femoral bowing, Depressed nasal bridge, Platyspondyly, Genu valgum, Hip subluxa... OMIM:618853
Spondyloepiphyseal Dysplasia Tarda
Abnormally ossified vertebrae, Barrel-shaped chest, Platyspondyly, Short neck, Biconcave vertebra... ORPHA:93284
Blomstrand Lethal Chondrodysplasia
Depressed nasal bridge, Platyspondyly, Short nose, Abnormal epiphysis morphology, Pulmonary hypop... ORPHA:50945
Gillessen-Kaesbach-Nishimura Syndrome
Ulnar deviation of the hand, Wide anterior fontanel, Convex nasal ridge, Narrow greater sciatic n... OMIM:263210
Orofaciodigital Syndrome Iii
Kyphosis, Bulbous nose, Pectus excavatum, Short sternum, Supernumerary tooth, Bifid tongue, Bifid... OMIM:258850
Microphthalmia With Limb Anomalies
High palate, Cleft palate, Depressed nasal bridge, Single transverse palmar crease, Short nose, S... OMIM:206920
Fibrodysplasia Ossificans Progressiva
Clinodactyly of the 5th finger, Ectopic ossification in tendon tissue, Small cervical vertebral b... OMIM:135100
Atelosteogenesis Type I
Narrow chest, Malrotation of colon, Talipes equinovarus, Short long bone, Short femur, Abnormal o... ORPHA:1190
Boomerang Dysplasia
Narrow chest, Abnormality of femur morphology, Abnormal bone ossification, Abnormal morphology of... ORPHA:1263
Metaphyseal Chondrodysplasia, Schmid Type
Metaphyseal sclerosis, Femoral bowing, Platyspondyly, Distal tibial bowing, Irregular acetabular ... OMIM:156500
Osteomesopyknosis
Increased bone mineral density OMIM:166450
Baller-Gerold Syndrome
High palate, Cleft palate, Hypoplasia of the radius, Hypoplasia of the ulna, Sagittal craniosynos... OMIM:218600
Acromesomelic Dysplasia 1
Broad phalanx, Thoracolumbar interpediculate narrowness, Cone-shaped epiphyses of the phalanges o... OMIM:602875
Tarp Syndrome
High palate, Pectus excavatum, Short sternum, Talipes equinovarus, Cleft palate, Postaxial polyda... OMIM:311900
Multiple Pterygium Syndrome, X-Linked
Cleft upper lip, Thin ribs, Cleft palate, Flexion contracture, Depressed nasal ridge, Micrognathi... OMIM:312150
Multinucleated Neurons, Anhydramnios, Renal Dysplasia, Cerebellar Hypoplasia, And Hydranencephaly
Bulbous nose, Clinodactyly of the 5th finger, 2-3 toe syndactyly, Talipes equinovarus, Microretro... OMIM:236500
Lethal Congenital Contracture Syndrome 4
Distal arthrogryposis, Multiple joint contractures, Respiratory insufficiency, Flexion contracture OMIM:614915
Hypocalcemic Vitamin D-Dependent Rickets
Delayed epiphyseal ossification, Tibial bowing, Subperiosteal bone resorption, Sparse bone trabec... ORPHA:289157
Turnpenny-Fry Syndrome
High palate, Pectus excavatum, Short sternum, Abnormality of the dentition, Microdontia, Pectus c... OMIM:618371
Langer Mesomelic Dysplasia
Radial bowing, Lumbar hyperlordosis, Hypoplasia of the radius, Broad ulna, Short tibia, Micrognat... OMIM:249700
Heart Defects-Limb Shortening Syndrome
Narrow chest, Kyphosis, Abnormal form of the vertebral bodies, Mesomelic/rhizomelic limb shorteni... ORPHA:1354
Epidermolysis Bullosa With Diaphragmatic Hernia
Neonatal death OMIM:226735
Marden-Walker Syndrome
High palate, Kyphosis, Narrow mouth, Abnormal sternum morphology, Talipes equinovarus, High, narr... OMIM:248700
Cornelia De Lange Syndrome 1
High palate, Malrotation of colon, Short sternum, Hiatus hernia, Cleft palate, Hypoplasia of the ... OMIM:122470
Mesomelic Limb Shortening And Bowing
Bowing of the legs, Mesomelic leg shortening, Cleft palate, Retrognathia, Micrognathia, Camptodac... OMIM:249710
Phocomelia-Ectrodactyly-Deafness-Sinus Arrhythmia Syndrome
Ectrodactyly, Upper limb phocomelia, Radial club hand, Abnormality of the nares, Short humerus, L... ORPHA:2878
Otopalatodigital Syndrome Type 2
Cleft palate, Depressed nasal bridge, Short nose, Pulmonary hypoplasia, Bowing of the long bones,... ORPHA:90652
Kagami-Ogata Syndrome
Kyphoscoliosis, Thin ribs, Long clavicles, Flexion contracture, Depressed nasal bridge, Retrognat... OMIM:608149
Spondylometaepiphyseal Dysplasia, Short Limb-Hand Type
High palate, Broad phalanx, Pectus excavatum, Depressed nasal bridge, Platyspondyly, Micromelia, ... OMIM:271665
Short Stature, Amelogenesis Imperfecta, And Skeletal Dysplasia With Scoliosis
High palate, Cleft palate, Carious teeth, Genu valgum, Small epiphyses, Short long bone, Thoracic... OMIM:618363
Acrocapitofemoral Dysplasia
Narrow chest, Cone-shaped metacarpal epiphyses, Coxa vara, Pectus excavatum, Abnormal femoral nec... ORPHA:63446
Cutis Laxa, Autosomal Recessive, Type Iie
High palate, Lumbar hyperlordosis, Pectus excavatum, Clinodactyly of the 5th finger, Convex nasal... OMIM:619451
Axial Spondylometaphyseal Dysplasia
Osteopenia, Platyspondyly, Upper limb undergrowth, Flared, irregular rib ends, Thoracic hypoplasi... ORPHA:168549
Pallister W Syndrome
Radial bowing, Agenesis of central incisor, Joint contracture of the hand, Broad nasal tip, Depre... OMIM:311450
Distal Osteosclerosis
Diaphyseal sclerosis, Hyperostosis, Craniofacial osteosclerosis OMIM:126250
Osteopoikilosis And Dacryocystitis
Osteopoikilosis OMIM:166705
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome
High palate, Multiple joint contractures, Respiratory distress, Pectus excavatum, Slender long bo... ORPHA:536467
Hypophosphatemic Rickets, X-Linked Dominant
Spinal canal stenosis, Metaphyseal irregularity, Tibial bowing, Bowing of the legs, Trapezoidal d... OMIM:307800
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2B, Prenatal Onset, Autosomal Dominant
Kyphosis, Talipes equinovarus, Flexion contracture, Micrognathia, Congenital hip dislocation, Sco... OMIM:618291
Multiple Epiphyseal Dysplasia With Robin Phenotype
Pectus excavatum, Cleft palate, Broad nasal tip, Hypoplasia of the capital femoral epiphysis, Gen... OMIM:601560
Opsismodysplasia
Narrow chest, Joint stiffness, Hypoplastic vertebral bodies, Pectus excavatum, Abnormally ossifie... ORPHA:2746
Spondylometaphyseal Dysplasia, Schmidt Type
Platyspondyly, Irregular acetabular roof, Genu valgum, Irregular iliac crest, Abnormal metaphysis... ORPHA:93316
Multiple Pterygium Syndrome, Lethal Type
Thin ribs, Cleft palate, Flexion contracture, Depressed nasal ridge, Micrognathia, Abnormal cervi... OMIM:253290
Short-Rib Thoracic Dysplasia 20 With Polydactyly
Cleft palate, Depressed nasal bridge, Decreased calvarial ossification, Short neck, Long thorax, ... OMIM:617925
Cleidocranial Dysplasia
Cleft palate, Abnormality of the dentition, Depressed nasal bridge, Down-sloping shoulders, Delay... ORPHA:1452
Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly
High palate, Cleft palate, Short uvula, Micromelia, Microdontia, Pulmonary hypoplasia, Bowing of ... OMIM:614091
Jeune Syndrome
Narrow chest, Abnormal sternum morphology, Abnormal clavicle morphology, Cone-shaped epiphysis, R... ORPHA:474
Raine Syndrome
High palate, Wide mouth, Pectus excavatum, Cleft palate, Depressed nasal bridge, Short neck, Micr... OMIM:259775
Hydrops Fetalis, Nonimmune, With Gracile Bones And Dysmorphism
Anteverted nares, Pulmonary hypoplasia, Thoracic hypoplasia, Upper limb undergrowth OMIM:613124
Au-Kline Syndrome
High palate, Overlapping toe, Pectus excavatum, Deep plantar creases, Cleft palate, Postaxial pol... OMIM:616580
Acromesomelic Dysplasia 2C
Distal femoral bowing, Radial bowing, Hypoplasia of the radius, Short tibia, Shortening of all pr... OMIM:201250
Achondrogenesis Type 1B
Narrow chest, Talipes equinovarus, Micrognathia, Short neck, Long philtrum, Micromelia, Abnormal ... ORPHA:93298
Cryptorchidism-Arachnodactyly-Intellectual Disability Syndrome
Kyphosis, Joint stiffness, Arachnodactyly, Abnormality of the dentition, Scoliosis, Bilateral sin... ORPHA:1548
W Syndrome
Radial bowing, Broad nasal tip, Depressed nasal bridge, Pes cavus, Camptodactyly, Hypoplasia of t... ORPHA:2804
Three M Syndrome 1
Pectus excavatum, Depressed nasal bridge, Short neck, Hypoplastic pelvis, Mandibular prognathia, ... OMIM:273750
Melnick-Needles Syndrome
Cone-shaped epiphyses of the phalanges of the hand, Abnormality of the pubic bone, Delayed erupti... ORPHA:2484
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly
Cleft palate, Lobulated tongue, Hypoplastic pelvis, Rhizomelia, Pulmonary hypoplasia, Unicoronal ... OMIM:616300
Orofaciodigital Syndrome Type 3
Bulbous nose, Pectus excavatum, Short sternum, Abnormality of the dentition, Bifid uvula, Lobulat... ORPHA:2752
Spondylometaphyseal Dysplasia, Type A4
Sclerotic humeral metaphysis, Metaphyseal irregularity, Irregular capital femoral epiphysis, Broa... OMIM:609052
Myopathy, Areflexia, Respiratory Distress, And Dysphagia, Early-Onset
High palate, Respiratory distress, Pectus excavatum, Talipes equinovarus, Cleft palate, Camptodac... OMIM:614399
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2A, Childhood Onset, Autosomal Dominant
Kyphosis, Hip contracture, Pectus excavatum, Talipes equinovarus, Pes cavus, Hyporeflexia of lowe... OMIM:615290
Microphthalmia With Limb Anomalies
High palate, Cleft palate, Depressed nasal bridge, Macrodontia, Abnormality of the upper limb, Sa... ORPHA:1106
Desbuquois Dysplasia 2
Pectus excavatum, Cleft palate, Depressed nasal bridge, Cutaneous syndactyly, Short neck, Platysp... OMIM:615777
Scarf Syndrome
Short sternum, Craniosynostosis, Short neck, Long philtrum, Abnormal form of the vertebral bodies... ORPHA:3134
Developmental And Epileptic Encephalopathy 71
Respiratory insufficiency, Respiratory failure OMIM:618328
Larsen-Like Syndrome, Lethal Type
Abnormal cartilage matrix, Tracheomalacia, Respiratory insufficiency, Neonatal death, Pulmonary h... OMIM:245650
Holt-Oram Syndrome
Sprengel anomaly, Kyphosis, Joint stiffness, Abnormal clavicle morphology, Pectus excavatum, Anom... ORPHA:392
Tonne-Kalscheuer Syndrome
Narrow mouth, Velopharyngeal insufficiency, Malar flattening, Micrognathia, Brachydactyly, Downtu... OMIM:300978
Symptomatic Form Of Coffin-Lowry Syndrome In Female Carriers
Kyphosis, Anodontia, Pectus excavatum, Everted lower lip vermilion, Oligodontia, Scoliosis, Taper... ORPHA:276630
Spondyloepimetaphyseal Dysplasia, Borochowitz-Cormier-Daire Type
Bowing of the legs, Pectus excavatum, Lumbar hyperlordosis, Metaphyseal spurs, Short long bone, D... OMIM:608728
Mucopolysaccharidosis, Type Iva
Pointed proximal second through fifth metacarpals, Wide mouth, Prominent sternum, Anterior beakin... OMIM:253000
Vacterl Association With Hydrocephalus
Absent thumb, Radial club hand, Respiratory insufficiency, Abnormality of the vertebral column, R... OMIM:276950
Cranioectodermal Dysplasia
Narrow chest, Short distal phalanx of finger, Abnormal dental enamel morphology, Pectus excavatum... ORPHA:1515
Achondrogenesis Type 1A
Narrow chest, Recurrent fractures, Multiple rib fractures, Micrognathia, Short neck, Long philtru... ORPHA:93299
Myopathy, Myofibrillar, Fatal Infantile Hypertonic, Alpha-B Crystallin-Related
Apnea, Respiratory insufficiency, Respiratory failure, Flexion contracture OMIM:613869
Momo Syndrome
High palate, Dental malocclusion, Taurodontia, Short sternum, Short neck, Long philtrum, Delayed ... OMIM:157980
Multiple Pterygium Syndrome, Escobar Variant
High palate, Multiple joint contractures, Triangular mouth, Cleft palate, Short neck, Down-slopin... OMIM:265000
Intellectual Developmental Disorder With Cardiac Defects And Dysmorphic Facies
Overlapping toe, Depressed nasal bridge, Cutaneous syndactyly, Overlapping fingers, Scoliosis, Wi... OMIM:618316
Robin Sequence-Oligodactyly Syndrome
Clinodactyly of the 5th finger, Abnormal morphology of ulna, Hand oligodactyly, Cleft palate, Glo... ORPHA:3104
Microbrachycephaly-Ptosis-Cleft Lip Syndrome
Pectus excavatum, Abnormality of finger, Large iliac wing, Malar flattening, Cone-shaped epiphysi... ORPHA:2511
Eng-Strom Syndrome
Pectus excavatum, Camptodactyly of finger, Brachydactyly, Scoliosis, Arthritis ORPHA:1937
Metaphyseal Chondrodysplasia, Schmid Type
Femoral bowing, Platyspondyly, Short long bone, Metaphyseal irregularity, Metaphyseal cupping of ... ORPHA:174
Krabbe Disease, Atypical, Due To Saposin A Deficiency
Respiratory insufficiency, Respiratory failure, Death in infancy, Central apnea OMIM:611722
Arthrogryposis, Distal, Type 1C
High palate, Pursed lips, Cleft palate, Short neck, Rocker bottom foot, Clinodactyly of the 5th f... OMIM:619110
Schinzel-Giedion Syndrome
High palate, Wide mouth, Respiratory distress, Abnormal clavicle morphology, Short 1st metacarpal... ORPHA:798
Spondylodysplastic Ehlers-Danlos Syndrome
Multiple joint contractures, Slender long bones with narrow diaphyses, Cleft palate, Abnormality ... ORPHA:536471
Radioulnar Synostosis-Developmental Delay-Hypotonia Syndrome
Pectus excavatum, Abnormality of the dentition, Carious teeth, Radioulnar synostosis, Prominent n... ORPHA:3270
Osteomesopyknosis
Kyphosis, Increased bone mineral density, Scoliosis, Abnormal form of the vertebral bodies, Scler... ORPHA:2777
Postaxial Oligodactyly, Tetramelic
Aplasia of the 5th metacarpal, Radial bowing, Lunate-triquetral fusion, Absent fifth metatarsal, ... OMIM:176240
Tetrasomy 5P
High palate, Overlapping toe, Respiratory distress, Clinodactyly of the 5th finger, Pectus excava... ORPHA:3309
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome
Narrow chest, Abnormal clavicle morphology, Micrognathia, Short philtrum, Platyspondyly, Short ne... ORPHA:93267
Mueller-Weiss Syndrome
Talipes calcaneovarus, Joint stiffness, Edema of the dorsum of feet, Sclerosis of foot bone, Limi... ORPHA:566943
Metaphyseal Chondrodysplasia, Spahr Type
Metaphyseal dysplasia, Reduced bone mineral density, Abnormality of the dentition, Scoliosis, Gen... ORPHA:2501
Eye Defects-Arachnodactyly-Cardiopathy Syndrome
Clinodactyly of the 5th finger, Cleft palate, Abnormal hip bone morphology, Arachnodactyly, Radio... ORPHA:2725
Scarf Syndrome
Short sternum, Coronal craniosynostosis, Barrel-shaped chest, Short neck, Long philtrum, Abnormal... OMIM:312830
Ulna And Fibula, Absence Of, With Severe Limb Deficiency
High palate, Prominent sternum, Elbow ankylosis, Hypoplasia of the radius, Hemivertebrae, Barrel-... OMIM:276820
Lethal Congenital Contracture Syndrome 10
Narrow chest, High palate, Thoracic scoliosis, Narrow palate, Talipes equinovarus, Adducted thumb... OMIM:617022
Short-Rib Thoracic Dysplasia 12
Short neck, Lobulated tongue, Median cleft lip and palate, Pulmonary hypoplasia, Short long bone,... OMIM:269860
Chromosome 1Q41-Q42 Deletion Syndrome
Vertebral segmentation defect, High palate, Cleft upper lip, Pectus excavatum, Talipes equinovaru... OMIM:612530
Mitochondrial Complex I Deficiency, Nuclear Type 30
Respiratory failure, Neonatal death OMIM:301021
Autosomal Dominant Limb-Girdle Muscular Dystrophy Type 1A
Reduced vital capacity, Limited knee flexion/extension, Respiratory insufficiency, Limited elbow ... ORPHA:266
Alg3-Cdg
High palate, Metaphyseal chondrodysplasia, Macroglossia, Osteopenia, Abnormality of limb bone mor... ORPHA:79321
Hypophosphatasia
Narrow chest, Recurrent fractures, Craniosynostosis, Abnormality of the dentition, Respiratory in... ORPHA:436
Fibular Aplasia Or Hypoplasia, Femoral Bowing And Poly-, Syn-, And Oligodactyly
Aplasia/Hypoplasia of the ulna, Hypoplasia of the radius, Femoral bowing, Congenital hip dislocat... OMIM:228930
Skeletal Dysplasia, Mild, With Joint Laxity And Advanced Bone Age
Pectus excavatum, Finger joint hypermobility, Depressed nasal bridge, Monkey wrench femoral neck,... OMIM:618870
Fibuloulnar Aplasia Or Hypoplasia With Renal Abnormalities
Respiratory insufficiency, Syndactyly, Neonatal death, Hypoplasia of the ulna, Respiratory failur... OMIM:228940
Spondyloepiphyseal Dysplasia-Brachydactyly And Distinctive Speech
Wide mouth, Pectus excavatum, Rhizo-meso-acromelic limb shortening, Depressed nasal bridge, Short... OMIM:611717
Congenital Muscular Dystrophy, Ullrich Type
Kyphosis, Slender finger, Spinal rigidity, Increased laxity of fingers, Adducted thumb, Flexion c... ORPHA:75840
Osteoporosis, Juvenile
Osteoporosis OMIM:259750
Craniofrontonasal Dysplasia
High palate, Abnormal clavicle morphology, Pectus excavatum, Depressed nasal ridge, Craniosynosto... ORPHA:1520
Camptodactyly Syndrome, Guadalajara Type 1
High palate, Pectus excavatum, Depressed nasal bridge, Pectus carinatum, Short nose, Mandibular p... ORPHA:1327
Mucopolysaccharidosis, Type Ivb
Pointed proximal second through fifth metacarpals, Wide mouth, Prominent sternum, Platyspondyly, ... OMIM:253010
Spinal Muscular Atrophy, Type I
Respiratory insufficiency, Death in childhood, Respiratory failure OMIM:253300
Hyperekplexia 4
Kyphoscoliosis, Flexion contracture, Adducted thumb, Camptodactyly, Distal arthrogryposis, Respir... OMIM:618011
Hip Dysplasia, Beukes Type
Abnormality of the epiphysis of the femoral head, Kyphosis, Coxa vara, Abnormal bone ossification... ORPHA:2114
Brachymesomelia-Renal Syndrome
Hypoplasia of the radius, Depressed nasal bridge, Micrognathia, Single transverse palmar crease, ... OMIM:113470
Kyphomelic Dysplasia
Narrow chest, Joint stiffness, Undulate ribs, Micrognathia, Anterior rib cupping, Abnormal form o... ORPHA:1801
Aarskog-Scott Syndrome
Pectus excavatum, Cleft palate, Abnormality of the dentition, Short neck, Delayed eruption of tee... ORPHA:915
Simpson-Golabi-Behmel Syndrome, Type 1
Wide mouth, Pectus excavatum, Short sternum, Cleft palate, Depressed nasal bridge, 2-3 finger syn... OMIM:312870
Lethal Kniest-Like Dysplasia
Narrow chest, Wide anterior fontanel, Hypoplastic vertebral bodies, Talipes equinovarus, Abnormal... ORPHA:2347
Phocomelia, Schinzel Type
Cleft palate, Hypoplasia of the radius, Tracheoesophageal fistula, Short neck, Micromelia, Aplasi... ORPHA:2879
Spondyloepiphyseal Dysplasia-Brachydactyly-Speech Disorder Syndrome
Wide mouth, Pectus excavatum, Limited pronation/supination of forearm, Depressed nasal bridge, Sh... ORPHA:163654
Ulnar Hypoplasia
Ulnar deviation of the hand, Radial bowing, Hypoplasia of the radius, Hypoplasia of the ulna, Rad... OMIM:191440
Arthrogryposis, Distal, Type 3
High palate, Pectus excavatum, Cleft palate, Down-sloping shoulders, Short neck, Congenital hip d... OMIM:114300
Diaphragmatic Defects, Limb Deficiencies, And Ossification Defects Of Skull
Clinodactyly of the 5th finger, Intestinal malrotation, Syndactyly, Amelia, Pulmonary hypoplasia,... OMIM:601163
Fetal Akinesia Deformation Sequence
Multiple joint contractures, Cleft palate, Depressed nasal bridge, Camptodactyly of finger, Respi... ORPHA:994
Martsolf Syndrome 1
High palate, Pectus excavatum, Finger joint hypermobility, Broad nasal tip, Short philtrum, Depre... OMIM:212720
Diastrophic Dysplasia
Hip contracture, Kyphoscoliosis, Lumbar hyperlordosis, Talipes equinovarus, Short long bone, Clef... OMIM:222600
Dyggve-Melchior-Clausen Disease
Broad carpal bones, Short neck, Platyspondyly, Hypoplasia of the capital femoral epiphysis, Pectu... ORPHA:239
Multiple Osteochondromas
Abnormality of femur morphology, Hemothorax, Scapular exostoses, Limitation of knee mobility, Abn... ORPHA:321
Autosomal Recessive Multiple Pterygium Syndrome
Vertebral segmentation defect, Rib fusion, High palate, Pectus excavatum, Abnormal sternum morpho... ORPHA:2990
Radio-Renal Syndrome
Respiratory distress, Convex nasal ridge, Chylothorax, High, narrow palate, Hypoplasia of the rad... ORPHA:3015
Congenital Insensitivity To Pain With Severe Intellectual Disability
Recurrent fractures, Tibial bowing, Osteomyelitis, Micrognathia, Talipes equinovalgus, Congenital... ORPHA:453510
Spondyloepimetaphyseal Dysplasia With Joint Laxity
High palate, Cleft palate, Platyspondyly, Pectus carinatum, Ulnar deviation of finger, Abnormal e... ORPHA:93359
Immunodeficiency 43
Hypoplasia of the ulna, Radial bowing, Recurrent respiratory infections, Bronchiectasis OMIM:241600
Myopathy, Congenital, With Diaphragmatic Defects, Respiratory Insufficiency, And Dysmorphic Facies
Narrow chest, Overlapping toe, High palate, Pectus excavatum, Dental malocclusion, Cleft palate, ... OMIM:618975
Grant Syndrome
Micrognathia, Tibial bowing, Down-sloping shoulders OMIM:138930
Osteogenesis Imperfecta
Abnormality of femur morphology, Pectus excavatum, Femoral bowing, Abnormality of the dentition, ... ORPHA:666
Osteogenesis Imperfecta, Type Ix
Kyphosis, Recurrent fractures, Pectus excavatum, Dentinogenesis imperfecta, Decreased calvarial o... OMIM:259440
Sternum, Premature Obliteration Of Sutures Of
Premature sternal synostosis, Micrognathia, Short sternum OMIM:184800
Hypophosphatemic Rickets, X-Linked Recessive
Metaphyseal irregularity, Tibial bowing, Delayed epiphyseal ossification, Bowing of the legs, Rec... OMIM:300554
Myopathy, Myofibrillar, 8
High palate, Dental malocclusion, Pectus excavatum, Spinal rigidity, Reduced vital capacity, Micr... OMIM:617258
Spondyloepimetaphyseal Dysplasia, Irapa Type
Platyspondyly, Micromelia, Upper limb undergrowth, Pectus carinatum, Hypoplastic pelvis, Genu val... ORPHA:93351
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly
Cone-shaped epiphyses of the phalanges of the hand, Hypoplasia of the ulna, Hypoplastic pelvis, P... OMIM:208500
Craniosynostosis, Herrmann-Opitz Type
Convex nasal ridge, Cleft palate, Craniosynostosis, Malar flattening, Micrognathia, Brachydactyly... ORPHA:2145
Lissencephaly Type 3-Metacarpal Bone Dysplasia Syndrome
Short distal phalanx of finger, Talipes equinovarus, Abnormal cartilage matrix, Abnormal bone str... ORPHA:86822
Schinzel-Giedion Midface Retraction Syndrome
Short sternum, Short 1st metacarpal, Depressed nasal bridge, Short neck, Single transverse palmar... OMIM:269150
Otopalatodigital Syndrome, Type I
Pectus excavatum, Cleft palate, Short 3rd metacarpal, Broad hallux, Short nose, Sandal gap, Broad... OMIM:311300
Acrorenal-Mandibular Syndrome
High palate, Hypoplasia of the radius, Hemivertebrae, Rudimentary fibula, Hypoplasia of the ulna,... OMIM:200980
Autosomal Recessive Hypophosphatemic Rickets
Craniosynostosis, Delayed eruption of teeth, Sclerotic vertebral endplates, Enthesitis, Spinal ca... ORPHA:289176
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 3
High palate, Osteopenia, Depressed nasal bridge, Platyspondyly, Delayed eruption of teeth, Tapere... OMIM:612350
Short Rib-Polydactyly Syndrome
Cleft palate, Depressed nasal bridge, Cone-shaped epiphysis, Micromelia, Bowing of the long bones... ORPHA:1505
Congenital Hemidysplasia With Ichthyosiform Erythroderma And Limb Defects
Depressed nasal bridge, Congenital hip dislocation, Single transverse palmar crease, Hypoplastic ... OMIM:308050
Nemaline Myopathy 1
High palate, Pectus excavatum, Flexion contracture, Respiratory insufficiency, Pes cavus, Scolios... OMIM:609284
Braddock Syndrome
Pectus excavatum, Hemivertebrae, Micrognathia, Short neck, Scoliosis, Missing ribs, Neonatal resp... ORPHA:52047
Growth Delay Due To Insulin-Like Growth Factor I Resistance
Pectus excavatum, Everted lower lip vermilion, Thin vermilion border, Broad nasal tip, Wide nasal... ORPHA:73273
Camptodactyly Syndrome, Guadalajara, Type Ii
Pectus excavatum, Talipes equinovarus, Osteopenia, Camptodactyly of finger, Short neck, Brachydac... OMIM:211920
Mosaic Trisomy 1
Wide mouth, Cleft palate, Depressed nasal bridge, 2-3 finger syndactyly, Finger clinodactyly, Sin... ORPHA:1692
Blount Disease
Abnormality of the knee, Abnormal tibial metaphysis morphology, Tibial bowing, Abnormality of the... ORPHA:2768
Tibial Torsion, Bilateral Medial
Bowing of the legs, Scoliosis, Tibial torsion OMIM:188800
Osteosclerosis With Ichthyosis And Fractures
Recurrent fractures, Tibial bowing, Cortical thickening of long bone diaphyses, Increased bone mi... OMIM:166740
Chitayat Syndrome
Respiratory distress, Pectus excavatum, Tracheomalacia, Depressed nasal bridge, Brachydactyly, Ab... OMIM:617180
Pontocerebellar Hypoplasia, Type 1C
Respiratory insufficiency, Respiratory failure, Flexion contracture OMIM:616081
Pyle Disease
Metaphyseal dysplasia, Reduced bone mineral density, Metaphyseal widening, Platyspondyly, Scolios... OMIM:265900
Cranioectodermal Dysplasia 4
Narrow chest, Short distal phalanx of finger, Pectus excavatum, Taurodontia, Cutaneous finger syn... OMIM:614378
Femoral-Facial Syndrome
Cleft palate, Radioulnar synostosis, Abnormality of fibula morphology, Short nose, Sprengel anoma... ORPHA:1988
Autosomal Dominant Otospondylomegaepiphyseal Dysplasia
Pectus excavatum, Cleft palate, Malar flattening, Glossoptosis, Micrognathia, Osteoarthritis, Lon... ORPHA:166100
Spondyloepimetaphyseal Dysplasia, Matrilin-3 Type
Bowing of the legs, Lumbar hyperlordosis, Pectus excavatum, Limited elbow extension, Limb undergr... ORPHA:156728
Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 1
Clinodactyly of the 5th finger, Radial bowing, Limited pronation/supination of forearm, Proximal ... OMIM:605432
Metaphyseal Anadysplasia
Joint stiffness, Abnormal morphology of ulna, Abnormal ulnar metaphysis morphology, Aplasia/Hypop... ORPHA:1040
Dysostosis, Stanescu Type
Pectus excavatum, Abnormality of the dentition, Short neck, Micromelia, Carious teeth, Abnormal e... ORPHA:1798
Brachytelephalangic Chondrodysplasia Punctata
Depressed nasal ridge, Broad nasal tip, C1-C2 subluxation, Short nose, Thick nasal alae, Hypoplas... ORPHA:79345
Spondylometaphyseal Dysplasia, Axial
Narrow chest, Coxa vara, Narrow greater sciatic notch, Platyspondyly, Anterior rib cupping, Scoli... OMIM:602271
Caudal Regression Syndrome
Anal atresia, Joint stiffness, Hypoplastic vertebral bodies, Abnormal iliac wing morphology, Tali... ORPHA:3027
Achondroplasia
Limited hip extension, Bowing of the legs, Lumbar hyperlordosis, Lumbar kyphosis in infancy, Gene... OMIM:100800
Muscular Dystrophy, Congenital, 1B
Spinal rigidity, Respiratory failure, Achilles tendon contracture OMIM:604801
Kniest Dysplasia
Flexion contracture of finger, Cleft palate, Depressed nasal bridge, Platyspondyly, Short neck, A... ORPHA:485
Grant Syndrome
Sprengel anomaly, Narrow chest, Abnormal palate morphology, Open bite, Abnormality of the glenoid... ORPHA:2097
Bartsocas-Papas Syndrome 1
Short metacarpal, Absent thumb, Cleft palate, Short neck, Short nose, Hypoplasia of the maxilla, ... OMIM:263650
Genitopatellar Syndrome
Hip contracture, Apnea, Talipes equinovarus, Hypoplastic ilia, Micrognathia, Long philtrum, Delay... ORPHA:85201
Coffin-Siris Syndrome 1
High palate, Wide mouth, Short sternum, Prominent fingertip pads, Cleft palate, Broad nasal tip, ... OMIM:135900
Craniodiaphyseal Dysplasia
Depressed nasal bridge, Wide nasal bridge, Abnormal rib morphology, Diaphyseal thickening, Cranio... ORPHA:1513
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly
Cleft palate, Platyspondyly, Pectus carinatum, Pulmonary hypoplasia, Short long bone, Short ribs,... OMIM:263520
Autosomal Dominant Spondylocostal Dysostosis
Vertebral segmentation defect, Cleft palate, Short neck, Posterior rib fusion, Scoliosis, Spina b... ORPHA:1797
Lethal Osteosclerotic Bone Dysplasia
Respiratory distress, Gingival overgrowth, Depressed nasal ridge, Retrognathia, Micrognathia, Sho... ORPHA:1832
Acrocraniofacial Dysostosis
Pectus excavatum, Cleft palate, Craniosynostosis, Short 1st metacarpal, Short philtrum, Advanced ... ORPHA:949
Leri-Weill dyschondrostosis (LWD) - SHOX deletion
Radial bowing, Limited pronation/supination of forearm, Madelung deformity DECIPHER:58
Chromosome 13Q33-Q34 Deletion Syndrome
High palate, Distally placed thumb, Cutaneous syndactyly, Short philtrum, Delayed eruption of tee... OMIM:619148
Pseudoachondroplasia
Irregular carpal bones, Cone-shaped epiphysis, Platyspondyly, Hypoplasia of the capital femoral e... ORPHA:750
Severe Congenital Nemaline Myopathy
Flexion contracture, Adducted thumb, Thin ribs, Abnormal thorax morphology, Pulmonary hypoplasia,... ORPHA:171430
Legg-Calvé-Perthes Disease
Abnormality of the dentition, Cartilage destruction ORPHA:2380
Myopathic Ehlers-Danlos Syndrome
Multiple joint contractures, Pectus excavatum, Tapered finger, Foot joint contracture, Talipes eq... ORPHA:536516
Ollier Disease
Joint stiffness, Platyspondyly, Micromelia, Abnormal cartilage morphology, Osteolysis, Abnormal m... ORPHA:296
Non-Distal Trisomy 10Q
High palate, Pectus excavatum, Convex nasal ridge, Everted lower lip vermilion, Depressed nasal b... ORPHA:1695
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 1
High palate, Short toe, Pectus excavatum, Prominent sternum, Spondylolisthesis, Clinodactyly of t... OMIM:617877
Short-Rib Thoracic Dysplasia 8 With Or Without Polydactyly
Narrow chest, Acetabular spurs, Short ribs, Postaxial polydactyly, Femoral bowing, Preaxial polyd... OMIM:615503
Dysspondyloenchondromatosis
Vertebral segmentation defect, Kyphoscoliosis, Generalized joint laxity, Osteoarthritis, Platyspo... ORPHA:85198
Coffin-Lowry Syndrome
High palate, Wide mouth, Pectus excavatum, Depressed nasal bridge, Broad finger, Delayed eruption... ORPHA:192
Meier-Gorlin Syndrome 7
High palate, Bowing of the legs, Anal atresia, 2-3 toe syndactyly, Narrow mouth, Wide anterior fo... OMIM:617063
Holzgreve Syndrome
Joint stiffness, Abnormal morphology of ulna, Aplasia/Hypoplasia of the tongue, Abnormally ossifi... ORPHA:2167
Chromosome 16P13.3 Duplication Syndrome
Short toe, Pectus excavatum, Bulbous nose, Malar flattening, Pes cavus, Short phalanx of finger, ... OMIM:613458
Epiphyseal Stippling-Osteoclastic Hyperplasia Syndrome
Abnormal bone ossification, Genu varum, Patent ductus arteriosus, Bowing of the long bones, Coron... ORPHA:1952
Microcephaly-Cervical Spine Fusion Anomalies Syndrome
Kyphosis, Abnormal clavicle morphology, Pectus excavatum, Convex nasal ridge, Malar prominence, A... ORPHA:2522
Mucopolysaccharidosis Type 4
Wide mouth, Abnormality of the dentition, Platyspondyly, Short neck, Pectus carinatum, Carious te... ORPHA:582
Thanatophoric Dysplasia, Type Ii
Wide-cupped costochondral junctions, Metaphyseal irregularity, Small abnormally formed scapulae, ... OMIM:187601
Neurodevelopmental Disorder With Dysmorphic Facies And Distal Skeletal Anomalies
Wide mouth, Pectus excavatum, Cone-shaped epiphysis, Tapered finger, Broad hallux, Micrognathia, ... OMIM:618659
Congenital Radioulnar Synostosis
Dislocated radial head, Abnormality of the musculature of the upper arm, Limited pronation/supina... ORPHA:3269
Eiken Syndrome
Abnormal fingertip morphology, Thin bony cortex, Epiphyseal dysplasia, Metaphyseal irregularity, ... ORPHA:79106
Nemaline Myopathy 8
Respiratory failure, Death in infancy, Flexion contracture OMIM:615348
Renal Hypodysplasia/Aplasia 4
Pulmonary hypoplasia, Respiratory failure OMIM:619887
Dyschondrosteosis-Nephritis Syndrome
Radial bowing, Micromelia, Microdontia, Aplasia/Hypoplasia of the radius, Madelung deformity, Uln... ORPHA:1765
Dyschondrosteosis And Nephritis
Radial bowing, Short tibia, Madelung deformity, Ulnar bowing, Short forearm OMIM:127350
Osteogenesis Imperfecta, Type Xxi
Coxa vara, Bowing of the legs, Pectus excavatum, Recurrent fractures, Barrel-shaped chest, Platys... OMIM:619131
Zimmermann-Laband Syndrome 3
Short distal phalanx of finger, Kyphosis, Long hallux, High palate, Gingival overgrowth, Flexion ... OMIM:618658
Dent Disease 1
Metaphyseal irregularity, Tibial bowing, Delayed epiphyseal ossification, Bowing of the legs, Rec... OMIM:300009
Stickler Syndrome, Type I
Pectus excavatum, Cleft palate, Depressed nasal bridge, Platyspondyly, Joint stiffness, Spondylol... OMIM:108300
Myasthenic Syndrome, Congenital, 19
High palate, Spinal rigidity, Retrognathia, Micrognathia, Respiratory insufficiency, Pes cavus, P... OMIM:616720
Osteoarthritis With Mild Chondrodysplasia
Irregular vertebral endplates, Joint stiffness, Beaking of vertebral bodies, Platyspondyly, Hip o... OMIM:604864
Heart-Hand Syndrome Type 2
Abnormal palate morphology, Joint stiffness, Abnormal clavicle morphology, Asymmetry of the thora... ORPHA:1350
Primary Pulmonary Hypoplasia
Apnea, Asthma, Cleft palate, Hypoxemia, Micrognathia, Tachypnea, Pulmonary hypoplasia, Abnormal b... ORPHA:2257
Arthrogryposis Multiplex Congenita 6
Adducted thumb, Death in childhood, Neonatal death, Death in infancy, Arthrogryposis multiplex co... OMIM:619334
Bone Dysplasia, Lethal Holmgren Type
Narrow chest, Abnormality of femur morphology, Metaphyseal dysplasia, Depressed nasal ridge, Shor... ORPHA:1842
Polydactyly, Postaxial, With Dental And Vertebral Anomalies
Dens in dente, Pectus excavatum, Hemivertebrae, Macrodontia, Pectus carinatum, Mandibular prognat... OMIM:263540
Ulna Metaphyseal Dysplasia Syndrome
Abnormal morphology of ulna, Depressed nasal ridge, Abnormal hip bone morphology, Abnormality of ... ORPHA:1837
Caffey Disease
Bowing of the legs, Tibial bowing, Periosteal thickening of long tubular bones, Calvarial hyperos... OMIM:114000
Renpenning Syndrome
Sprengel anomaly, Anal atresia, Narrow mouth, Clinodactyly of the 5th finger, Pectus excavatum, H... ORPHA:3242
Saul-Wilson Syndrome
Short distal phalanx of finger, Cone-shaped epiphyses of the phalanges of the hand, Pectus excava... OMIM:618150
Pallister-Hall Syndrome
Cleft palate, Depressed nasal ridge, Hemivertebrae, Short nose, Polydactyly affecting the 4th fin... ORPHA:672
Restrictive Dermopathy 1
Depressed nasal bridge, Decreased calvarial ossification, Ankylosis, Pulmonary hypoplasia, Rocker... OMIM:275210
Congenital Muscular Dystrophy With Intellectual Disability
Multiple joint contractures, Calf muscle hypertrophy, Respiratory insufficiency, Scoliosis, Neuro... ORPHA:370968
Mosaic Trisomy 14
Narrow chest, High palate, Wide mouth, Ectopic anus, Cleft palate, Micrognathia, Camptodactyly of... ORPHA:1703
Chromosome 3Q29 Deletion Syndrome
Clinodactyly of the 5th finger, Pectus excavatum, Short philtrum, Tapered finger, Long fingers, P... OMIM:609425
Distal Trisomy 18Q
High palate, Clinodactyly of the 5th finger, Pectus excavatum, Arachnodactyly, Micrognathia, Prog... ORPHA:1716
Distal Tetrasomy 15Q
High palate, Kyphosis, Abnormal sternum morphology, Flexion contracture, Craniosynostosis, Arachn... ORPHA:314588
Thanatophoric Dysplasia Type 1
Narrow chest, Kyphosis, Joint stiffness, Wide anterior fontanel, Short femur, Femoral bowing, Hyp... ORPHA:1860
Craniodiaphyseal Dysplasia, Autosomal Dominant
Thickened ribs, Cortical sclerosis, Diaphyseal sclerosis, Depressed nasal bridge, Wide nasal brid... OMIM:122860
Oculofaciocardiodental Syndrome
Cleft palate, Abnormality of the dentition, Delayed eruption of teeth, Radioulnar synostosis, Ham... ORPHA:2712
Xp22.13P22.2 Duplication Syndrome
High palate, Flared nostrils, Pectus excavatum, 2-3 toe syndactyly, Small hand, Broad nasal tip, ... ORPHA:284180
Gnathodiaphyseal Dysplasia
Osteopenia, Osteomyelitis, Increased susceptibility to fractures, Diaphyseal cortical sclerosis OMIM:166260
Fibrodysplasia Ossificans Progressiva
Clinodactyly of the 5th finger, Aplasia/Hypoplasia of the phalanges of the hallux, Spinal rigidit... ORPHA:337
Fetal Akinesia Deformation Sequence 1
High palate, Narrow mouth, Ulnar deviation of the hand, Talipes equinovarus, High, narrow palate,... OMIM:208150
Lujan-Fryns Syndrome
High palate, Pectus excavatum, Arachnodactyly, Abnormality of the dentition, Camptodactyly of fin... ORPHA:776
Peroxisome Biogenesis Disorder 1A (Zellweger)
High palate, Single transverse palmar crease, Pulmonary hypoplasia, Rocker bottom foot, Epiphysea... OMIM:214100
Rhyns Syndrome
Osteopenia, Radial bowing, Brachydactyly, Short femoral neck OMIM:602152
Spondyloepimetaphyseal Dysplasia, X-Linked, With Hypomyelinating Leukodystrophy
High palate, Prominent sternum, Broad nasal tip, Depressed nasal bridge, Short neck, Platyspondyl... OMIM:300232
Achondrogenesis
Narrow chest, Micrognathia, Short neck, Long philtrum, Micromelia, Abnormality of bone mineral de... ORPHA:932
Autosomal Recessive Spondylocostal Dysostosis
Vertebral segmentation defect, Rib fusion, Kyphosis, Anomalous pulmonary venous return, Cleft pal... ORPHA:2311
Acrocraniofacial Dysostosis
Pectus excavatum, Cleft palate, Craniosynostosis, Short 1st metacarpal, Short philtrum, Abnormali... OMIM:201050
Ghosal Hematodiaphyseal Dysplasia
Abnormality of femur morphology, Abnormal form of the vertebral bodies, Abnormality of tibia morp... ORPHA:1802
Czeizel-Losonci Syndrome
High palate, Ectrodactyly, Split foot, Tracheoesophageal fistula, 2-3 finger syndactyly, Microgna... ORPHA:2437
Temple Syndrome
High palate, Cleft palate, Flexion contracture, Small hand, Depressed nasal bridge, Short philtru... OMIM:616222
Oncogenic Osteomalacia
Abnormality of femur morphology, Tibial bowing, Fibrous dysplasia of the bones, Pathologic fractu... ORPHA:352540
Mental Retardation, Buenos Aires Type
High palate, Wide mouth, Dental malocclusion, Pectus excavatum, Clinodactyly of the 5th finger, M... OMIM:249630
Congenital Disorder Of Glycosylation, Type Iig
Vertebral segmentation defect, High palate, Butterfly vertebrae, Talipes equinovarus, Cleft palat... OMIM:611209
Teebi Hypertelorism Syndrome 1
Small hand, Coronal craniosynostosis, Depressed nasal bridge, Micrognathia, Long philtrum, Broad ... OMIM:145420
Osteogenesis Imperfecta, Type Vii
Pectus excavatum, Osteopenia, Decreased calvarial ossification, Micromelia, Rhizomelia, Femoral r... OMIM:610682
Thanatophoric Dysplasia Type 2
Narrow chest, Kyphosis, Depressed nasal bridge, Respiratory insufficiency, Platyspondyly, Brachyd... ORPHA:93274
Fibrochondrogenesis 1
Cleft palate, Depressed nasal bridge, Short neck, Platyspondyly, Short nose, Rhizomelia, Dumbbell... OMIM:228520
Acrodysostosis
Depressed nasal ridge, Hypoplasia of the radius, Depressed nasal bridge, Cone-shaped epiphysis, M... ORPHA:950
Spinocerebellar Ataxia, Autosomal Recessive 31
High palate, Gingival overgrowth, Clinodactyly of the 5th finger, Pectus excavatum, Retrognathia,... OMIM:619422
Spondylocostal Dysostosis 2, Autosomal Recessive
Vertebral segmentation defect, Rib fusion, Vertebral clefting, Hemivertebrae, Short neck, Restric... OMIM:608681
Spondyloepimetaphyseal Dysplasia, Di Rocco Type
Bowing of the legs, Metaphyseal dysplasia, Delayed ossification of carpal bones, Reduced bone min... OMIM:617974
Lethal Congenital Contracture Syndrome 1
Widening of cervical spinal canal, Micrognathia, Neonatal death, Abnormal thorax morphology, Pulm... OMIM:253310
Pseudoachondroplasia
Fragmented epiphyses, Irregular carpal bones, Fragmented, irregular epiphyses, Platyspondyly, Sma... OMIM:177170
Blount Disease, Adolescent
Bowing of the legs, Genu varum OMIM:259200
Symbrachydactyly Of Hands And Feet
Vertebral segmentation defect, Abnormality of the humeroulnar joint, Abnormal morphology of ulna,... ORPHA:1570
Desbuquois Dysplasia 1
Radial deviation of the 2nd finger, Short 1st metacarpal, Depressed nasal bridge, Platyspondyly, ... OMIM:251450
Meckel Syndrome 14
Microretrognathia, Postaxial polydactyly, Retrognathia, Micrognathia, Decreased calvarial ossific... OMIM:619879
Donnai-Barrow Syndrome
Wide anterior fontanel, Short sternum, Malar flattening, Intestinal malrotation, Broad nasal tip,... OMIM:222448
Meier-Gorlin Syndrome 1
High palate, Respiratory distress, Cleft palate, Absent glenoid fossa, Hemivertebrae, Microdontia... OMIM:224690
Neutropenia, Lethal Congenital, With Eosinophilia
Neonatal death OMIM:257100
Butyrylcholinesterase Deficiency
Respiratory failure, Respiratory failure requiring assisted ventilation ORPHA:132
Lethal Congenital Contracture Syndrome 11
Retrognathia, Pulmonary hypoplasia OMIM:617194
Orofaciodigital Syndrome Type 4
Abnormality of the tongue, Cleft palate, Depressed nasal ridge, Short philtrum, Micromelia, Oral ... ORPHA:2753
Distal Trisomy 15Q
High palate, Anal atresia, Joint stiffness, Pectus excavatum, Arachnodactyly, Micrognathia, Campt... ORPHA:1707
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 2
Epiphyseal dysplasia, Kyphoscoliosis, Pectus excavatum, Advanced ossification of carpal bones, Ca... OMIM:615349
Prune Belly Syndrome
Vertebral segmentation defect, Anal atresia, Pectus excavatum, Talipes equinovarus, Intestinal at... ORPHA:2970
Spondyloepiphyseal Dysplasia Tarda, Kohn Type
Platyspondyly, Abnormal ilium morphology, Abnormal vertebral morphology, Restricted large joint m... ORPHA:163665
Microcephalic Primordial Dwarfism, Toriello Type
Brachydactyly, Abnormal rib morphology, Downturned corners of mouth, Enamel hypoplasia, Abnormal ... ORPHA:2643
Spondylomegaepiphyseal Dysplasia With Upper Limb Mesomelia, Punctate Calcifications, And Deafness
Cone-shaped epiphyses of the phalanges of the hand, Platyspondyly, Distal ulnar epiphyseal stippl... OMIM:609616
Congenital Heart Defects And Skeletal Malformations Syndrome
High palate, Anal atresia, Dental crowding, Pectus excavatum, Arachnodactyly, Intestinal malrotat... OMIM:617602
Cleft Palate-Large Ears-Small Head Syndrome
Short distal phalanx of finger, Gingival overgrowth, Pectus excavatum, Cleft palate, Micrognathia... ORPHA:2013
Hallermann-Streiff Syndrome
High palate, Pectus excavatum, Decreased number of sternal ossification centers, Selective tooth ... OMIM:234100
Stuve-Wiedemann Syndrome 2
Respiratory distress, Death in adolescence, Neonatal death, Scoliosis, Camptodactyly, Bowing of t... OMIM:619751
Fountain Syndrome
Short distal phalanx of finger, Kyphosis, Metaphyseal dysplasia, Pectus excavatum, Wide mouth, Gi... ORPHA:3219
Typical Nemaline Myopathy
Narrow chest, Kyphosis, High palate, Pectus excavatum, Spinal rigidity, Flexion contracture, Micr... ORPHA:171436
Immunodeficiency 95
Respiratory distress, Recurrent viral pneumonia, Respiratory failure OMIM:619773
Craniometadiaphyseal Dysplasia
High palate, Sclerosis of skull base, Wide anterior fontanel, Malar flattening, Osteopenia, Flare... OMIM:269300
Verloove Vanhorick-Brubakk Syndrome
Abnormality of femur morphology, Cleft palate, Micrognathia, Abnormal form of the vertebral bodie... ORPHA:3429
Lung Agenesis-Heart Defect-Thumb Anomalies Syndrome
Short distal phalanx of finger, Vertebral segmentation defect, Anomalous pulmonary venous return,... ORPHA:1120
Spondyloepimetaphyseal Dysplasia, Strudwick Type
Metaphyseal irregularity, Coxa vara, Narrow greater sciatic notch, Club-shaped proximal femur, Cl... OMIM:184250
Spondylometaphyseal Dysplasia With Corneal Dystrophy
Beaking of vertebral bodies, Increased intervertebral space, Short ribs, Metaphyseal widening, De... OMIM:618961
Spondyloepiphyseal Dysplasia Congenita
Respiratory distress, Cleft palate, Barrel-shaped chest, Platyspondyly, Short neck, Pectus carina... OMIM:183900
Pierre Robin Sequence With Pectus Excavatum And Rib And Scapular Anomalies
Pectus excavatum, Cleft palate, Micrognathia, Hypoplastic distal segments of scapulae, Abnormal r... OMIM:602196
X-Linked Intellectual Disability-Cubitus Valgus-Dysmorphism Syndrome
High palate, Pectus excavatum, Malar flattening, Short philtrum, Bilateral single transverse palm... ORPHA:85280
Asbestos Intoxication
Interlobular septal thickening, Lung adenocarcinoma, Oxygen desaturation on exertion, Reduced vit... ORPHA:2302
Autosomal Recessive Robinow Syndrome
Wide mouth, Pectus excavatum, Abnormality of the dentition, Short philtrum, Short neck, Depressed... ORPHA:1507
Minicore Myopathy With External Ophthalmoplegia
High palate, Respiratory insufficiency, Scoliosis, Pulmonary hypoplasia, Joint laxity, Recurrent ... OMIM:255320
Recombinant Chromosome 8 Syndrome
Gingival overgrowth, Clinodactyly of the 5th finger, Pectus excavatum, Joint contracture of the h... OMIM:179613
Camptodactyly Syndrome, Guadalajara Type 2
Pectus excavatum, Talipes equinovarus, Camptodactyly of finger, Short 3rd toe, Cuboid-shaped vert... ORPHA:1326
Rigid Spine Syndrome
Hamstring contractures, Hip contracture, Spinal rigidity, Respiratory insufficiency, Scoliosis, H... ORPHA:97244
Arthrogryposis, Distal, Type 5
High palate, Pectus excavatum, Decreased palmar creases, Abnormal rib cage morphology, Bilateral ... OMIM:108145
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 4
Apnea, Pulmonary hypoplasia OMIM:615228
Shprintzen-Goldberg Craniosynostosis Syndrome
High palate, Pectus excavatum, Craniosynostosis, Osteopenia, Pectus carinatum, Genu valgum, Hypop... OMIM:182212
Spondylocostal Dysostosis 3, Autosomal Recessive
Vertebral segmentation defect, Kyphosis, Contracture of the proximal interphalangeal joint of the... OMIM:609813
Short-Rib Thoracic Dysplasia 11 With Or Without Polydactyly
Narrow chest, Postaxial polydactyly, Respiratory insufficiency, Brachydactyly, Bell-shaped thorax... OMIM:615633
Satb2-Associated Syndrome Due To A Pathogenic Variant
High palate, Clinodactyly of the 5th finger, Cleft palate, Abnormality of the dentition, Osteopen... ORPHA:576283
Upper Limb Mesomelic Dysplasia
Hypoplasia of the ulna, Radial bowing, Ulnar deviation of finger ORPHA:2497
Mohr Syndrome
High palate, Pectus excavatum, Cleft palate, Broad nasal tip, Depressed nasal bridge, Lobulated t... OMIM:252100
Developmental Delay With Variable Neurologic And Brain Abnormalities
Pectus excavatum, Micrognathia, Down-sloping shoulders, Microdontia, Camptodactyly, Widely spaced... OMIM:619694
Craniometadiaphyseal Dysplasia, Wormian Bone Type
High palate, Obtuse angle of mandible, Wide anterior fontanel, Increased bone mineral density, Ma... ORPHA:85184
Mucolipidosis Ii Alpha/Beta
Wide mouth, Pectus excavatum, Craniosynostosis, Osteopenia, Depressed nasal bridge, Bullet-shaped... OMIM:252500
Chondrodysplasia, Lethal, With Long Bone Angulation And Mixed Bone Density
Short femur, Hypoplasia of the radius, Short tibia, Absent ossification of cervical vertebral bod... OMIM:601376
Dacryocystitis-Osteopoikilosis Syndrome
Increased bone mineral density, Osteopoikilosis ORPHA:1562
Hypophosphatasia, Infantile
Bowing of the legs, Apnea, Metaphyseal cupping, Stillbirth, Vertebral clefting, Short ribs, Abnor... OMIM:241500
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia
High palate, Pectus excavatum, Craniosynostosis, Hypoplasia of the radius, Short neck, Hypoplasia... OMIM:609945
Primary Microcephaly-Mild Intellectual Disability-Young-Onset Diabetes Syndrome
Pectus excavatum, Slender finger, Short philtrum, Down-sloping shoulders, Short neck, Short nose,... ORPHA:391408
Osteochondrodysplasia, Brachydactyly, And Overlapping Malformed Digits
Short distal phalanx of finger, Pectus excavatum, Postaxial polydactyly, Adducted thumb, Overlapp... OMIM:618167
Coffin-Siris Syndrome 6
Kyphoscoliosis, Pectus excavatum, High, narrow palate, Cleft palate, Retrognathia, Broad nasal ti... OMIM:617808
Hereditary Motor And Sensory Neuropathy, Okinawa Type
Aspiration pneumonia, Cough, Respiratory failure requiring assisted ventilation, Dyspnea, Respira... ORPHA:90117
Recombinant 8 Syndrome
Pectus excavatum, Cleft palate, Abnormality of the dentition, Depressed nasal bridge, Cleft upper... ORPHA:96167
Ossification Anomalies-Psychomotor Developmental Delay Syndrome
Narrow chest, Short distal phalanx of finger, Abnormal bone ossification, Thin ribs, Triangular s... ORPHA:73230
Aspergillosis
Asthma, Sinusitis, Osteomyelitis, Chronic pulmonary obstruction, Hypersensitivity pneumonitis, Ab... ORPHA:1163
Hypertelorism And Other Facial Dysmorphism, Brachydactyly, Genital Abnormalities, Mental Retardation, And Recurrent Inflammatory Episodes
Wide mouth, Pectus excavatum, Small hand, Broad finger, Short phalanx of finger, Pectus carinatum... OMIM:614684
Hydrocephalus-Costovertebral Dysplasia-Sprengel Anomaly Syndrome
Sprengel anomaly, High palate, Bulbous nose, Malar flattening, Hemivertebrae, Depressed nasal bri... ORPHA:2180
Spinal Muscular Atrophy With Congenital Bone Fractures 2
Flexion contracture, Pulmonary hypoplasia, Patent ductus arteriosus, Arthrogryposis multiplex con... OMIM:616867
Marfanoid Habitus-Autosomal Recessive Intellectual Disability Syndrome
High palate, Thenar muscle atrophy, Narrow mouth, Pectus excavatum, Abnormal bone ossification, T... ORPHA:2463
Autoimmune Disease, Multisystem, With Facial Dysmorphism
Reduced forced expiratory volume in one second, Increased vertebral height, Lumbar hyperlordosis,... OMIM:613385
3M Syndrome
Bulbous nose, Short neck, Congenital hip dislocation, Delayed eruption of teeth, Micromelia, Hypo... ORPHA:2616
Osteopathia Striata With Cranial Sclerosis
High palate, Apnea, Pectus excavatum, Cleft palate, Broad ribs, Thick lower lip vermilion, Cleft ... OMIM:300373
Schneckenbecken Dysplasia
Cleft palate, Short neck, Platyspondyly, Short nose, Ovoid vertebral bodies, Dumbbell-shaped long... OMIM:269250
Cataract-Hypertrichosis-Intellectual Disability Syndrome
Abnormal palate morphology, Depressed nasal bridge, Pectus excavatum, Microdontia ORPHA:1375
Schwartz-Jampel Syndrome
High palate, Apnea, Pectus excavatum, Pursed lips, Cleft palate, Abnormally ossified vertebrae, S... ORPHA:800
Microphthalmia, Syndromic 12
Retrognathia, Broad nasal tip, Micrognathia, Pulmonary hypoplasia, Wide nasal bridge OMIM:615524
Pontocerebellar Hypoplasia, Type 4
Congenital contracture, Respiratory failure, Death in infancy OMIM:225753
Mesomelic Dysplasia, Kantaputra Type
Mesomelia, Carpal synostosis, Radial bowing, Tarsal synostosis OMIM:156232
Hennekam Lymphangiectasia-Lymphedema Syndrome 1
Pectus excavatum, Depressed nasal bridge, Delayed eruption of teeth, Rectal prolapse, Talipes equ... OMIM:235510
Intellectual Disability-Polydactyly-Uncombable Hair Syndrome
Kyphosis, Aplasia/Hypoplasia of fingers, Clinodactyly of the 5th finger, Micrognathia, Broad hall... ORPHA:3082
Fibrochondrogenesis
Narrow chest, Narrow mouth, Wide anterior fontanel, Cleft palate, Short ribs, Depressed nasal bri... ORPHA:2021
Surfactant Metabolism Dysfunction, Pulmonary, 3
Respiratory distress, Apnea, Absent bronchoalveolar surfactant-protein C, Desquamative interstiti... OMIM:610921
Macs Syndrome
High palate, Gingival overgrowth, Pectus excavatum, Eclabion, Micrognathia, Brachydactyly, Scolio... OMIM:613075
Spondyloepimetaphyseal Dysplasia, Irapa Type
Coxa vara, Metaphyseal dysplasia, Lumbar hyperlordosis, Hypoplastic sacrum, Osteoarthritis, Platy... OMIM:271650
Usmani-Riazuddin Syndrome, Autosomal Recessive
Lumbar scoliosis, Pectus excavatum, Joint laxity, High palate OMIM:619548
Auricular Abnormalities-Cleft Lip With Or Without Cleft Palate-Ocular Abnormalities Syndrome
Incomplete cleft of the upper lip, Kyphosis, Pectus excavatum, Depressed nasal ridge, Intestinal ... ORPHA:77300
Aarskog-Scott Syndrome
Pectus excavatum, Cleft palate, Short neck, Single transverse palmar crease, Short nose, Hypoplas... OMIM:305400
Juberg-Hayward Syndrome
Abnormality of finger, Hypoplasia of the radius, Scoliosis, Radioulnar synostosis, Abnormal rib m... ORPHA:2319
Spondylo-Megaepiphyseal-Metaphyseal Dysplasia
Coxa vara, Metaphyseal irregularity, Metaphyseal dysplasia, Flexion contracture, Abnormally ossif... OMIM:613330
Odontochondrodysplasia
Narrow chest, Respiratory distress, Dentinogenesis imperfecta, Retrognathia, Depressed nasal brid... ORPHA:166272
Craniofacial Dysostosis With Diaphyseal Hyperplasia
Kyphoscoliosis, Pectus excavatum, Massively thickened long bone cortices, Brachydactyly, Micromel... OMIM:122900
Pentalogy Of Cantrell
Abnormal sternum morphology, Cleft palate, Scoliosis, Abnormality of tibia morphology, Oral cleft... ORPHA:1335
Fryns Syndrome
Narrow chest, Short distal phalanx of finger, High palate, Clinodactyly of the 5th finger, Wide m... ORPHA:2059
Mosaic Trisomy 16
Wide mouth, Meckel diverticulum, Craniofacial asymmetry, Syndactyly, Short femoral neck, Abnormal... ORPHA:1708
Lethal Intrauterine Growth Restriction-Cortical Malformation-Congenital Contractures Syndrome
Multiple joint contractures, Enlarged thorax, Adducted thumb, Micrognathia, Camptodactyly of fing... ORPHA:2570
Turner Syndrome Due To Structural X Chromosome Anomalies
High palate, Pectus excavatum, Short sternum, Abnormality of the dentition, Osteopenia, Short nec... ORPHA:99413
Mosaic Monosomy X
High palate, Pectus excavatum, Short sternum, Abnormality of the dentition, Osteopenia, Short nec... ORPHA:99228
Monosomy X
High palate, Pectus excavatum, Short sternum, Abnormality of the dentition, Osteopenia, Short nec... ORPHA:99226
Turner Syndrome
High palate, Pectus excavatum, Short sternum, Abnormality of the dentition, Osteopenia, Short nec... ORPHA:881
Intellectual Developmental Disorder, X-Linked, Syndromic, Snyder-Robinson Type
Bulbous nose, Pectus excavatum, Cleft palate, Short philtrum, Short neck, Pectus carinatum, Thin ... OMIM:309583
Congenital Muscular Dystrophy-Respiratory Failure-Skin Abnormalities-Joint Hyperlaxity Syndrome
High palate, Multiple joint contractures, Respiratory insufficiency due to muscle weakness, Pectu... ORPHA:486815
Ceroid Lipofuscinosis, Neuronal, 10
Apnea, Respiratory insufficiency, Neonatal death, Split hand, Respiratory failure OMIM:610127
Osteogenesis Imperfecta, Type Xix
Recurrent fractures, Pectus excavatum, Osteopenia, Scoliosis, Biconcave vertebral bodies, Pectus ... OMIM:301014
Hypochondroplasia
Spinal canal stenosis, Sleep apnea, Short toe, Abnormality of femur morphology, Osteoarthritis, S... ORPHA:429
Schwartz-Jampel Syndrome, Type 1
High palate, Pursed lips, Platyspondyly, Short neck, Congenital hip dislocation, Pectus carinatum... OMIM:255800
Pseudopapilledema, Ocular Hypotelorism, Blepharophimosis, And Hand Anomalies
High palate, Anodontia, Kyphoscoliosis, Pectus excavatum, Dental malocclusion, Narrow palate, Sup... OMIM:264475
Mucopolysaccharidosis Type 6
Kyphosis, Epiphyseal dysplasia, Joint stiffness, Sinusitis, Macroglossia, Recurrent upper respira... ORPHA:583
Mcdonough Syndrome
Dental malocclusion, Kyphoscoliosis, Pectus excavatum, Micrognathia, Short philtrum, Pectus carin... OMIM:248950
Hypophosphatemic Rickets, Autosomal Recessive, 1
Hypophosphatemic rickets, Increased bone mineral density, Rickets, Craniosynostosis OMIM:241520
Proximal Spinal Muscular Atrophy
Multiple joint contractures, Distal upper limb muscle weakness, Recurrent infections due to aspir... ORPHA:70
Frontometaphyseal Dysplasia 1
High palate, Cleft palate, Craniosynostosis, Increased density of long bone diaphyses, Delayed er... OMIM:305620
Short Stature, Brussels Type
Narrow chest, Delayed epiphyseal ossification, Microretrognathia, Calcification of cartilage ORPHA:2867
Chromosome 2P16.1-P15 Deletion Syndrome
High palate, Kyphoscoliosis, Pectus excavatum, Prominent nasal tip, High, narrow palate, Joint co... OMIM:612513
Gastrointestinal Defects And Immunodeficiency Syndrome 2
Kyphosis, Intestinal atresia, Bilateral talipes equinovarus, Micrognathia, Overlapping fingers, I... OMIM:619708
Mosaic Variegated Aneuploidy Syndrome 1
Short sternum, Triangular mouth, Cleft palate, Malar flattening, Depressed nasal bridge, Microgna... OMIM:257300
Intellectual Developmental Disorder, Autosomal Dominant 44, With Microcephaly
High palate, Bulbous nose, Pectus excavatum, Depressed nasal bridge, Short philtrum, Tapered fing... OMIM:617061
X-Linked Intellectual Disability-Dysmorphism-Cerebral Atrophy Syndrome
Bilateral talipes equinovarus, Retrognathia, Finger clinodactyly, Osteoporosis, Prominent nose, P... ORPHA:2958
Distal Monosomy 7Q36
Wide mouth, Bulbous nose, Clinodactyly of the 5th finger, Pectus excavatum, Cleft palate, Microgn... ORPHA:1636
Combined Oxidative Phosphorylation Deficiency 8
Pulmonary hypoplasia, Death in infancy OMIM:614096
Multiple Pterygium-Malignant Hyperthermia Syndrome
Pectus excavatum, Cleft palate, Advanced eruption of teeth, Tapered finger, Ulnar deviation of fi... ORPHA:2215
Becker Nevus Syndrome
Kyphosis, Rib fusion, Pectus excavatum, Scoliosis, Micromelia, Pectus carinatum, Spina bifida occ... ORPHA:64755
Noonan Syndrome-Like Disorder With Loose Anagen Hair
Pectus excavatum, Thin vermilion border, Brachydactyly, Carious teeth, Abnormality of the elbow, ... ORPHA:2701
Immunoskeletal Dysplasia With Neurodevelopmental Abnormalities
Epiphyseal dysplasia, Kyphoscoliosis, Pectus excavatum, Dislocated radial head, Metaphyseal dyspl... OMIM:617425
Osteopathia Striata-Cranial Sclerosis Syndrome
Large iliac wing, Asymmetry of the thorax, Cleft palate, High, narrow palate, Increased bone mine... ORPHA:2780
Poland Syndrome
Hemivertebrae, Cone-shaped epiphysis, Short neck, Abnormality of the humerus, Pectus carinatum, S... ORPHA:2911
Dysplastic Cortical Hyperostosis
Increased bone mineral density, Abnormality of limb bone morphology, Limb undergrowth, Aplasia/Hy... ORPHA:2204
Achondroplasia
Depressed nasal bridge, Rhizomelia, Short nasal bridge, Short long bone, Thoracic hypoplasia, Spi... ORPHA:15
Neu-Laxova Syndrome
Cleft palate, Depressed nasal ridge, Osteopenia, Micromelia, Pulmonary hypoplasia, Trismus, Flexi... ORPHA:2671
Alg9-Cdg
Wide mouth, Depressed nasal bridge, Short neck, Short nose, Rhizomelia, Pulmonary hypoplasia, Sho... ORPHA:79328
Van Buchem Disease
Thickened cortex of long bones, Cranial hyperostosis, Increased bone mineral density OMIM:239100
Congenital Disorder Of Glycosylation, Type Iia
Wide mouth, Pectus excavatum, Abnormality of the dentition, Osteopenia, Short neck, Macrodontia, ... OMIM:212066
Spondyloepimetaphyseal Dysplasia, X-Linked
Broad phalanx, Cone-shaped epiphyses of the phalanges of the hand, Anterior wedging of T11, Platy... OMIM:300106
Aphalangy With Hemivertebrae
Aplasia of the phalanges of the toes, Hemivertebrae, Pulmonary hypoplasia, Aphalangy of hands and... OMIM:207620
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 3
High palate, Pectus excavatum, Abnormality of the dentition, Osteopenia, Depressed nasal bridge, ... OMIM:615398
Renal Hypodysplasia/Aplasia 2
Pulmonary hypoplasia OMIM:615721
Rhizomelic Chondrodysplasia Punctata, Type 1
Kyphoscoliosis, Cleft palate, Flexion contracture, Malar flattening, Depressed nasal bridge, Flar... OMIM:215100
Shprintzen-Goldberg Syndrome
Apnea, Pectus excavatum, Craniosynostosis, Osteopenia, Pectus carinatum, Genu valgum, Hypoplasia ... ORPHA:2462
Spondyloepimetaphyseal Dysplasia With Hypotrichosis
Increased anterior vertebral height, Delayed epiphyseal ossification, Coxa vara, Proximal humeral... OMIM:183849
Cole-Carpenter Syndrome 2
High palate, Kyphosis, Pectus excavatum, Dentinogenesis imperfecta, Microretrognathia, Thin ribs,... OMIM:616294
Intellectual Developmental Disorder, X-Linked, Syndromic, Claes-Jensen Type