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Gene: Pkdcc MGI:2147077

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Gene Summary

Name:
protein kinase domain containing, cytoplasmic
Synonyms:
Adtk1,  ESTM17,  MAd1,  Vlk

Order Alleles

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
abnormal facial morphology Pkdccem1(IMPC)Mbp HOM E15.5 0.00
abnormal head shape Pkdccem1(IMPC)Mbp HOM E15.5 0.00
embryonic growth retardation Pkdccem1(IMPC)Mbp HOM E15.5 0.00
abnormal neural tube morphology Pkdccem1(IMPC)Mbp HOM E9.5 0.00
edema Pkdccem1(IMPC)Mbp HOM E15.5 0.00
abnormal heart morphology Pkdccem1(IMPC)Mbp HOM E9.5 0.00
abnormal liver morphology Pkdccem1(IMPC)Mbp HET Early adult 0.00
small liver Pkdccem1(IMPC)Mbp HET Early adult 0.00
abnormal craniofacial morphology Pkdccem1(IMPC)Mbp HOM E15.5 0.00
abnormal pericardium morphology Pkdccem1(IMPC)Mbp HOM E9.5 0.00
abnormal facial morphology Pkdccem1(IMPC)Mbp HOM E18.5 0.00
small kidney Pkdccem1(IMPC)Mbp HET Early adult 0.00
abnormal head shape Pkdccem1(IMPC)Mbp HOM E18.5 0.00
abnormal kidney morphology Pkdccem1(IMPC)Mbp HET Early adult 0.00
preweaning lethality, complete penetrance Pkdccem1(IMPC)Mbp HOM   Early adult 0.00

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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

60 Images

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X-ray

XRay Images Whole Body Lateral Orientation

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MicroCT E14.5-E15.5

Embryo reconstruction

8 Images

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Human diseases caused by Pkdcc 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 Pkdcc by orthology or direct annotation.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Rhizomelic Limb Shortening With Dysmorphic Features
Prominent fingertip pads, Hyperextensibility of the finger joints, Clinodactyly of the 3rd finger... OMIM:618821

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

Disease Similarity of
phenotypes		 Matching phenotypes Source
Ulnar Hypoplasia
Ulnar deviation of the hand, Radial bowing, Hypoplasia of the radius, Hypoplasia of the ulna, Rad... OMIM:191440
Syndactyly Type 4
Short tibia, Camptodactyly of finger, 6 metacarpals, Triphalangeal thumb, Hand polydactyly, Foot ... ORPHA:93405
Acromesomelic Dysplasia 2C
Distal femoral bowing, Radial bowing, Hypoplasia of the radius, Short tibia, Shortening of all pr... OMIM:201250
Acromesomelic Dysplasia 2A
Flexion contracture, Short femur, Hypoplasia of the radius, Short tibia, Short humerus, Aplasia/H... OMIM:200700
Chondrodysplasia, Lethal, With Long Bone Angulation And Mixed Bone Density
Short femur, Hypoplasia of the radius, Short tibia, Lytic defects of humeral diaphysis, Absent os... OMIM:601376
Langer Mesomelic Dysplasia
Radial bowing, Hypoplasia of the radius, Broad ulna, Short tibia, Micrognathia, Rudimentary fibul... OMIM:249700
Chondrodysplasia Punctata, Tibia-Metacarpal Type
Short tibia, Micromelia, Short 3rd metacarpal, Limb undergrowth, Short 2nd metacarpal, Short 4th ... OMIM:118651
Osebold-Remondini Syndrome
Carpal synostosis, Short toe, Dysplastic distal radial epiphyses, Hypoplasia of the radius, Short... OMIM:112910
Ulnar Hypoplasia With Mental Retardation
Bilateral ulnar hypoplasia, Talipes equinovarus, Limited elbow movement, Limitation of knee mobility OMIM:276821
Arms, Malformation Of
Hypoplasia of the radius, Hypoplasia of the ulna, Radioulnar synostosis OMIM:107900
Brachydactyly Type A1
Broad metacarpals, Clinodactyly of the 5th finger, Talipes equinovarus, Distal symphalangism of h... ORPHA:93388
Ulnar Hypoplasia With Lobster-Claw Deformity Of Feet
Hypoplasia of the ulna, Short finger, Syndactyly, Split foot OMIM:314360
Leri-Weill Dyschondrosteosis
Short toe, Tibial bowing, Abnormal femoral neck morphology, Radial bowing, Coxa valga, Hypoplasia... OMIM:127300
Mesomelic Dwarfism Of Hypoplastic Tibia And Radius Type
Hypoplasia of the radius, Short tibia, Pseudoarthrosis OMIM:156230
Metaphyseal Dysplasia, Braun-Tinschert Type
Upper limb metaphyseal widening, Osteopenia, Humerus varus, Thin bony cortex, Hypoplasia of the u... ORPHA:85188
Atelosteogenesis, Type Iii
Tibial bowing, Radial bowing, Talipes equinovarus, Knee dislocation, Cleft palate, Malar flatteni... OMIM:108721
Spondylometaphyseal Dysplasia With Cone-Rod Dystrophy
Metaphyseal irregularity, Tibial bowing, Metaphyseal cupping, Coxa vara, Dental malocclusion, Nar... OMIM:608940
Ulna Hypoplasia-Intellectual Disability Syndrome
Joint stiffness, Hypoplasia of the radius, Broad hallux phalanx, Micromelia, Ulnar deviation of f... ORPHA:2249
Lethal Faciocardiomelic Dysplasia
Microretrognathia, Hypoplasia of the radius, Radial club hand, Short tibia, Short 5th finger, Bil... ORPHA:1972
Mental Retardation Syndrome, Mietens-Weber Type
Forearm undergrowth, Dislocated radial head, Pes planus, Elbow flexion contracture, Absent proxim... OMIM:249600
Ulnar Hypoplasia-Split Foot Syndrome
Split hand, Hypoplasia of the ulna, Aplasia/Hypoplasia of the radius, Split foot ORPHA:1122
Gollop-Wolfgang Complex
Aplasia/Hypoplasia of the ulna, Ectrodactyly, Aplasia/Hypoplasia of the tibia, Hand monodactyly, ... ORPHA:1986
Acrocapitofemoral Dysplasia
Cone-shaped epiphyses of the phalanges of the hand, Hypoplasia of the radius, Cone-shaped epiphys... OMIM:607778
Mesomelic Dwarfism, Reinhardt-Pfeiffer Type
Abnormal morphology of ulna, Micromelia, Synostosis of carpal bones, Abnormality of tibia morphol... ORPHA:2634
Upper Limb Mesomelic Dysplasia
Hypoplasia of the ulna, Radial bowing, Ulnar deviation of finger ORPHA:2497
Spondyloepimetaphyseal Dysplasia, Missouri Type
Metaphyseal irregularity, Tibial bowing, Femoral bowing, Flared metaphysis, Genu varum, Pear-shap... ORPHA:93356
Léri-Weill Dyschondrosteosis
Abnormality of femur morphology, Hypoplasia of the radius, Cone-shaped epiphysis, Micromelia, Abn... ORPHA:240
Acromesomelic Dysplasia, Grebe Type
Joint stiffness, Short toe, Short tibia, Aplasia of the middle phalanges of the toes, Brachydacty... ORPHA:2098
Angioosteohypotrophic Syndrome
Hypoplasia of the radius, Abnormality of the hand, Short humerus, Upper limb undergrowth, Thin bo... ORPHA:75508
Otospondylomegaepiphyseal Dysplasia
Cleft palate, Abnormally ossified vertebrae, Platyspondyly, Short neck, Flared femoral metaphysis... ORPHA:1427
Spondyloepimetaphyseal Dysplasia, Missouri Type
Coxa vara, Tibial bowing, Metaphyseal cupping, Radial bowing, Flared iliac wing, Femoral bowing, ... OMIM:602111
Weismann-Netter Syndrome
Kyphosis, Abnormality of femur morphology, Tibial bowing, Abnormal morphology of ulna, Abnormal h... ORPHA:3344
Ulna And Fibula, Hypoplasia Of
Hypoplasia of the ulna, Fibular hypoplasia OMIM:191400
Weismann-Netter Syndrome
Kyphosis, Calvarial hyperostosis, Horizontal sacrum, Scoliosis, Fibular bowing, Lateral femoral b... OMIM:112350
Rhizomelic Chondrodysplasia Punctata, Type 3
Rhizomelia, Short humerus, Epiphyseal stippling, Short femur OMIM:600121
Metaphyseal Anadysplasia
Joint stiffness, Abnormal morphology of ulna, Abnormal ulnar metaphysis morphology, Aplasia/Hypop... ORPHA:1040
Rhizomelic Dysplasia, Ain-Naz Type
Short femur, Short humerus, Hypoplasia of the femoral head, Short femoral neck, Wide distal femor... OMIM:619598
Femur-Fibula-Ulna Complex
Abnormality of femur morphology, Abnormal morphology of ulna, Short humerus, Micromelia, Abnormal... ORPHA:2019
Multiple Epiphyseal Dysplasia With Robin Phenotype
Dislocated radial head, Coxa vara, Flat capital femoral epiphysis, Talipes equinovarus, Cleft pal... OMIM:601560
Metaphyseal Anadysplasia 2
Bowing of the legs, Metaphyseal irregularity, Metaphyseal widening, Micromelia, Genu varum, Short... OMIM:613073
Acheiropody
Aplasia of the ulna, Absent hand, Short tibia, Lower limb peromelia, Carpal bone aplasia, Short h... OMIM:200500
Metaphyseal Acroscyphodysplasia
Cone-shaped epiphyses of the phalanges of the hand, Craniosynostosis, Platyspondyly, Biconcave ve... OMIM:250215
Trochlea Of The Humerus, Aplasia Of
Short humerus, Cleft palate OMIM:191000
Hhhh Syndrome
Hemiatrophy OMIM:306960
Short-Rib Thoracic Dysplasia 2 With Or Without Polydactyly
Brachydactyly, Broad palm, Postaxial hand polydactyly, Mesomelia, Rhizomelia, Short foot, Short m... OMIM:611263
Kniest Dysplasia
Respiratory distress, Cleft palate, Platyspondyly, Short neck, Hypoplastic pelvis, Rhizomelia, Du... OMIM:156550
Shox-Related Short Stature
Forearm undergrowth, High palate, Tibial bowing, Micrognathia, Short neck, Scoliosis, Genu valgum... ORPHA:314795
Osteogenesis Imperfecta, Type Iii
Kyphosis, Tibial bowing, Wide anterior fontanel, Dentinogenesis imperfecta, Recurrent fractures, ... OMIM:259420
Faciocardiomelic Dysplasia, Lethal
Hypoplasia of the radius, Micrognathia, Short 5th finger, Hypoplasia of the ulna, Single transver... OMIM:227270
Metaphyseal Chondrodysplasia, Schmid Type
Metaphyseal sclerosis, Femoral bowing, Platyspondyly, Distal tibial bowing, Irregular acetabular ... OMIM:156500
Dyschondrosteosis And Nephritis
Radial bowing, Short tibia, Madelung deformity, Ulnar bowing, Short forearm OMIM:127350
Fibular Aplasia, Tibial Campomelia, And Oligosyndactyly Syndrome
Tibial bowing, Hand oligodactyly, Short tibia, Abnormality of the hand, Syndactyly, Foot oligodac... OMIM:246570
Mesomelic Dysplasia, Savarirayan Type
Dislocated radial head, Short tibia, Talipes equinovalgus, Mesomelia, Abnormal foot morphology, H... OMIM:605274
Spondyloperipheral Dysplasia-Short Ulna Syndrome
Flattened femoral head, Hip dysplasia, Aplasia/hypoplasia involving bones of the extremities, Irr... ORPHA:1856
Omodysplasia 2
Dislocated radial head, Depressed nasal bridge, Short 1st metacarpal, Short humerus, Long philtru... OMIM:164745
Ulnar/Fibula Ray Defect-Brachydactyly Syndrome
Aplasia/Hypoplasia of the ulna, Talipes equinovarus, Aplasia/Hypoplasia of the fibula, Brachydact... ORPHA:52056
Dyggve-Melchior-Clausen Disease
Cone-shaped epiphyses of the phalanges of the hand, Femoral bowing, Platyspondyly, Short neck, Rh... OMIM:223800
Rhizomelic Chondrodysplasia Punctata, Type 2
High palate, Flexion contracture, Depressed nasal bridge, Osteopenia, Micrognathia, Short humerus... OMIM:222765
Atelosteogenesis, Type Ii
Lacunar halos around chondrocytes, Cleft palate, Horizontal sacrum, Platyspondyly, Short neck, Mi... OMIM:256050
Pseudoachondroplasia
Irregular carpal bones, Cone-shaped epiphysis, Platyspondyly, Hypoplasia of the capital femoral e... ORPHA:750
Rhizomelic Dysplasia, Patterson-Lowry Type
Coxa vara, Deformed humeral heads, Short humerus, Brachydactyly, Rhizomelia, Short metatarsal, Sh... OMIM:601438
Kniest-Like Dysplasia With Pursed Lips And Ectopia Lentis
High palate, Joint stiffness, Tibial bowing, Narrow mouth, Pursed lips, Flexion contracture, Abse... OMIM:245160
Growth Delay-Hydrocephaly-Lung Hypoplasia Syndrome
Tibial bowing, Radial bowing, Abnormally ossified vertebrae, Intestinal malrotation, Micrognathia... ORPHA:3035
Diaphragmatic Defect-Limb Deficiency-Skull Defect Syndrome
Aplasia/Hypoplasia of the ulna, Abnormality of femur morphology, Clinodactyly of the 5th finger, ... ORPHA:2141
Fibular Hemimelia
Craniosynostosis, Talipes equinovalgus, Structural foot deformity, Arthralgia of the hip, Abnorma... ORPHA:93323
Robin Sequence-Oligodactyly Syndrome
Clinodactyly of the 5th finger, Abnormal morphology of ulna, Hand oligodactyly, Cleft palate, Glo... ORPHA:3104
Acrodysostosis
Depressed nasal ridge, Hypoplasia of the radius, Depressed nasal bridge, Cone-shaped epiphysis, M... ORPHA:950
Congenital Radioulnar Synostosis
Dislocated radial head, Abnormality of the musculature of the upper arm, Talipes equinovarus, Abn... ORPHA:3269
Tibia, Hypoplasia Or Aplasia Of, With Polydactyly
Preaxial polydactyly, Short tibia, Triphalangeal thumb, Fibular duplication, Absent tibia OMIM:188740
Astley-Kendall Dysplasia
Micromelia, Epiphyseal stippling ORPHA:85175
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
Spondyloperipheral Dysplasia
Cone-shaped epiphyses of the phalanges of the hand, Shortening of all proximal phalanges of the f... OMIM:271700
Spondylometaphyseal Dysplasia, Schmidt Type
Platyspondyly, Irregular acetabular roof, Genu valgum, Irregular iliac crest, Abnormal metaphysis... ORPHA:93316
Geroderma Osteodysplasticum
Progeroid facial appearance, Femoral bowing, Osteopenia, Platyspondyly, Biconcave vertebral bodie... OMIM:231070
Mesomelic Limb Shortening And Bowing
Bowing of the legs, Mesomelic leg shortening, Micrognathia, Camptodactyly of finger, Bowing of th... OMIM:249710
Multiple Epiphyseal Dysplasia Due To Collagen 9 Anomaly
Radially deviated wrists, Coxa vara, Reduced arm span, Osteoarthritis, Abnormality of the epiphys... ORPHA:166002
Van Bogaert-Hozay Syndrome
Osteolytic defects of the phalanges of the hand, Micrognathia, Distal ulnar hypoplasia OMIM:277150
Cenani-Lenz Syndactyly Syndrome
Hypoplasia of the radius, Micrognathia, Syndactyly, Hypoplasia of the ulna OMIM:212780
Metaphyseal Chondrodysplasia, Schmid Type
Femoral bowing, Platyspondyly, Short long bone, Metaphyseal irregularity, Metaphyseal cupping of ... ORPHA:174
Short Stature, Amelogenesis Imperfecta, And Skeletal Dysplasia With Scoliosis
High palate, Cleft palate, Carious teeth, Genu valgum, Small epiphyses, Short long bone, Advanced... OMIM:618363
Atelosteogenesis, Type I
Aplasia/Hypoplasia of the ulna, Cleft palate, Short neck, 11 pairs of ribs, Rhizomelia, Clubbing,... OMIM:108720
Hypophosphatemic Rickets, X-Linked Dominant
Spinal canal stenosis, Metaphyseal irregularity, Tibial bowing, Bowing of the legs, Trapezoidal d... OMIM:307800
Rhizomelic Dysplasia, Patterson-Lowry Type
Coxa vara, Deformed humeral heads, Depressed nasal ridge, Short humerus, Brachydactyly, Deviation... ORPHA:2831
Spondylometaphyseal Dysplasia, East African Type
Coxa vara, Metaphyseal spurs, Metaphyseal widening, Brachydactyly, Genu varum, Rounded epiphyses,... OMIM:611702
Mesomelic Dysplasia, Savarirayan Type
Hypoplasia of proximal radius, Flared radial metaphysis, High iliac wing, Metatarsus valgus, Glen... ORPHA:85170
Metaphyseal Dysplasia With Maxillary Hypoplasia With Or Without Brachydactyly
Premature loss of teeth, Metaphyseal dysplasia, Thin vermilion border, Flared metaphysis, Platysp... OMIM:156510
Skeletal Defects, Genital Hypoplasia, And Impaired Intellectual Development
Absent thumb, Short femur, Short tibia, Hypoplasia of the ulna, Aplasia/Hypoplasia of the radius,... OMIM:612447
Fibuloulnar Aplasia Or Hypoplasia With Renal Abnormalities
Micrognathia, Respiratory insufficiency, Syndactyly, Neonatal death, Hypoplasia of the ulna, Meso... OMIM:228940
Eiken Syndrome
Abnormal fingertip morphology, Thin bony cortex, Epiphyseal dysplasia, Metaphyseal irregularity, ... ORPHA:79106
Ulnar Hemimelia
Aplasia/Hypoplasia of the ulna, Upper limb phocomelia, Radial club hand, Glenoid fossa hypoplasia... ORPHA:93320
Metaphyseal Chondrodysplasia, Spahr Type
Metaphyseal dysplasia, Reduced bone mineral density, Abnormality of the dentition, Scoliosis, Gen... ORPHA:2501
Spondylometaphyseal Dysplasia, 'Corner Fracture' Type
High palate, Corner fracture of metaphysis, Abnormality of the dentition, Platyspondyly, Short ne... ORPHA:93315
Rhizomelic Chondrodysplasia Punctata, Type 5
Metaphyseal irregularity, Coxa vara, Metaphyseal cupping, Talipes equinovarus, Asthma, Swan neck-... OMIM:616716
Otopalatodigital Syndrome, Type Ii
Radial deviation of the 2nd finger, Cleft palate, Femoral bowing, Platyspondyly, Rudimentary fibu... OMIM:304120
Osteogenesis Imperfecta, Type Ii
Recurrent fractures, Tibial bowing, Beaded ribs, Thin ribs, Respiratory insufficiency, Platyspond... OMIM:166210
Acheiropodia
Aplasia of the ulna, Absent hand, Upper limb phocomelia, Short humerus, Abnormal epiphysis morpho... ORPHA:931
Mesomelic Dwarfism-Cleft Palate-Camptodactyly Syndrome
Cleft palate, Abnormal hip bone morphology, Retrognathia, Thin vermilion border, Camptodactyly of... ORPHA:2631
Multiple Epiphyseal Dysplasia, Lowry Type
Dislocated radial head, Epiphyseal dysplasia, Delayed epiphyseal ossification, Fragmented epiphys... ORPHA:166016
Acromesomelic Dysplasia 3
Carpal synostosis, Short toe, Talipes equinovarus, Bilateral talipes equinovarus, Short 1st metac... OMIM:609441
Langer Mesomelic Dysplasia
Abnormal morphology of ulna, Aplasia/Hypoplasia of the fibula, Micromelia, Short femoral neck, Me... ORPHA:2632
Osteogenesis Imperfecta, Type Viii
Kyphosis, Tibial bowing, Radial bowing, Wide anterior fontanel, Dentinogenesis imperfecta, Thin r... OMIM:610915
Orofaciodigital Syndrome Viii
High palate, Cleft palate, Short tibia, Syndactyly, Polydactyly, Recurrent aspiration pneumonia, ... OMIM:300484
Intellectual Developmental Disorder, Autosomal Recessive 35
Malar flattening, Everted lower lip vermilion, Micrognathia, Long philtrum, Hypoplasia of the uln... OMIM:615162
Short Ulna-Dysmorphism-Hypotonia-Intellectual Disability Syndrome
Malar flattening, Everted lower lip vermilion, Micrognathia, Long philtrum, Hypoplasia of the uln... ORPHA:357175
Kyphomelic Dysplasia
Cleft upper lip, Tibial bowing, Radial bowing, Talipes equinovarus, Limitation of joint mobility,... OMIM:211350
Nemaline Myopathy 9
High palate, Cleft palate, Micrognathia, Respiratory insufficiency, Arthrogryposis multiplex cong... OMIM:615731
Autosomal Dominant Omodysplasia
Malar flattening, Short 1st metacarpal, Depressed nasal bridge, Micrognathia, Short humerus, Long... ORPHA:93328
Campomelic Dysplasia
Poorly ossified cervical vertebrae, Kyphosis, Small abnormally formed scapulae, Tibial bowing, Ta... ORPHA:140
Hydrocephalus With Associated Malformations
Tibial bowing, Intestinal malrotation, Micrognathia, Short lower limbs, Abnormal foot morphology,... OMIM:236640
Fibular Aplasia-Complex Brachydactyly Syndrome
Abnormal morphology of ulna, Abnormal hip bone morphology, Aplasia/Hypoplasia of the fibula, Brac... ORPHA:2639
Tibial Torsion, Bilateral Medial
Bowing of the legs, Tibial torsion OMIM:188800
Ulnar/Fibular Ray Defect And Brachydactyly
Bilateral talipes equinovarus, Brachydactyly, Postaxial oligodactyly, Lower limb asymmetry, Unila... OMIM:608571
Arthrogryposis, Distal, With Mental Retardation And Characteristic Facies
Distal arthrogryposis, Respiratory insufficiency, Respiratory failure, Arthrogryposis multiplex c... OMIM:208081
Hypochondroplasia
Lumbar hyperlordosis, Aplasia/hypoplasia of the extremities, Malar flattening, Flared metaphysis,... OMIM:146000
Lethal Congenital Contracture Syndrome 3
Multiple joint contractures, Respiratory insufficiency, Neonatal death, Arthrogryposis multiplex ... OMIM:611369
Phocomelia-Ectrodactyly, Ear Malformation, Deafness, And Sinus Arrhythmia
Aplasia/Hypoplasia of the thumb, Anterior vertebral fusion, Malar flattening, Mesomelic arm short... OMIM:171480
Stuve-Wiedemann Syndrome 1
Apnea, Pursed lips, Femoral bowing, Short neck, Ulnar deviation of finger, Carious teeth, Ovoid v... OMIM:601559
Short Stature, Auditory Canal Atresia, Mandibular Hypoplasia, And Skeletal Abnormalities
High palate, Dislocated radial head, Narrow mouth, Talipes equinovarus, Flexion contracture, Mala... OMIM:602471
Dyssegmental Dysplasia With Glaucoma
Delayed epiphyseal ossification, Wide anterior fontanel, Hip contracture, Cleft palate, Malar fla... OMIM:601561
Vitamin D Hydroxylation-Deficient Rickets, Type 1B
Bowing of the legs, Tibial bowing, Metaphyseal irregularity, Delayed epiphyseal ossification, Rec... OMIM:600081
Craniosynostosis-Mental Retardation-Clefting Syndrome
Forearm undergrowth, Lower limb undergrowth, Craniosynostosis OMIM:218650
Metatropic Dysplasia
Halberd-shaped pelvis, Cone-shaped epiphysis, Hyperplasia of the femoral trochanters, Flared hume... OMIM:156530
Heart-Hand Syndrome Type 2
Abnormal palate morphology, Joint stiffness, Abnormal morphology of ulna, Abnormality of the dent... ORPHA:1350
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
Laurin-Sandrow Syndrome
Absent radius, Syndactyly, Triphalangeal thumb, Broad foot, Patellar aplasia, Short foot, Hand po... OMIM:135750
Phocomelia-Ectrodactyly-Deafness-Sinus Arrhythmia Syndrome
Ectrodactyly, Upper limb phocomelia, Abnormality of the nares, Radial club hand, Abnormal nasal m... ORPHA:2878
Orofaciodigital Syndrome Type 10
Mesomelic leg shortening, Short toe, Hypoplasia of proximal radius, Preaxial polydactyly, Short t... ORPHA:2756
Brachyolmia Type 1, Hobaek Type
Sclerotic foci of metaphyses of the elbow, Kyphosis, Squared-off platyspondyly, Back pain, Osteop... OMIM:271530
Vitamin D Hydroxylation-Deficient Rickets, Type 1A
Metaphyseal irregularity, Tibial bowing, Subperiosteal bone resorption, Bowing of the legs, Delay... OMIM:264700
Arthrogryposis, Distal, Type 1C
High palate, Pursed lips, Cleft palate, Short neck, Rocker bottom foot, Clinodactyly of the 5th f... OMIM:619110
Tibial Aplasia-Ectrodactyly Syndrome
Aplasia/Hypoplasia of the ulna, Abnormality of femur morphology, Ectrodactyly, Aplasia/Hypoplasia... ORPHA:3329
Congenital Absence Of Upper Arm And Forearm With Hand Present
Cleft palate, Abnormal hip bone morphology, Upper limb phocomelia, Syndactyly, Polydactyly, Abnor... ORPHA:294975
Skeletal Dysplasia And Progressive Central Nervous System Degeneration, Lethal
Apnea, Hypoplasia of the radius, Depressed nasal bridge, Cutis marmorata, Hypoplasia of the ulna,... OMIM:602613
Boomerang Dysplasia
Abnormality of femur morphology, Abnormal bone ossification, Abnormal morphology of ulna, Abnorma... ORPHA:1263
Fibrodysplasia Ossificans Progressiva
Clinodactyly of the 5th finger, Ectopic ossification in tendon tissue, Short 1st metacarpal, Meta... OMIM:135100
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 3
Metaphyseal irregularity, Dislocated radial head, Knee dislocation, Short femoral neck, Tapered f... OMIM:618395
Osteolysis Syndrome, Recessive
Osteolytic defects of the proximal phalanges of the hand, Osteolytic defects of the middle phalan... OMIM:259610
Mietens Syndrome
Coxa vara, Joint stiffness, Clinodactyly of the 5th finger, Coxa valga, Elbow ankylosis, Hypoplas... ORPHA:2557
Microphthalmia With Limb Anomalies
High palate, Cleft upper lip, Tibial bowing, Talipes equinovarus, Hand oligodactyly, Cleft palate... OMIM:206920
Microphthalmia With Limb Anomalies
High palate, Cleft palate, Macrodontia, Sandal gap, Hypoplasia of the maxilla, Bowing of the long... ORPHA:1106
Holt-Oram Syndrome
Aplasia of the ulna, Short clavicles, Absent thumb, Hypoplasia of the radius, Partial duplication... OMIM:142900
Ring Chromosome 4 Syndrome
Split hand, Abnormal morphology of ulna, Aplasia/Hypoplasia of the radius, Abnormality of the upp... ORPHA:1447
Multiple Synostoses Syndrome 1
Hypoplastic nasal septum, Short sternum, Clinodactyly of the 4th toe, Short philtrum, Symphalangi... OMIM:186500
Acrorenal Syndrome
Abnormal morphology of ulna, Cleft palate, Micrognathia, Abnormality of tibia morphology, Aplasia... ORPHA:971
Metaphyseal Dysplasia Without Hypotrichosis
Metaphyseal irregularity, Cone-shaped epiphyses of the phalanges of the hand, Metaphyseal dysplas... OMIM:250460
Radial Hypoplasia-Triphalangeal Thumbs-Hypospadias-Maxillary Diastema Syndrome
Hypoplasia of the radius, Micromelia, Nonopposable triphalangeal thumb ORPHA:2252
Weyers Ulnar Ray/Oligodactyly Syndrome
Aplasia/Hypoplasia of the ulna, Cleft upper lip, High palate, Hand oligodactyly, Absent thumb, Hy... OMIM:602418
Cartilage-Hair Hypoplasia
Abnormally ossified vertebrae, Short neck, Micromelia, Rhizomelia, Abnormal epiphysis morphology,... ORPHA:175
Autosomal Recessive Hypophosphatemic Rickets
Spinal canal stenosis, Coxa vara, Tibial bowing, Distal femoral bowing, Malabsorption, Rickets of... ORPHA:289176
Pallister W Syndrome
Radial bowing, Agenesis of central incisor, Joint contracture of the hand, Broad nasal tip, Depre... OMIM:311450
Vitamin D-Dependent Rickets, Type 2A
Metaphyseal irregularity, Tibial bowing, Subperiosteal bone resorption, Bowing of the legs, Delay... OMIM:277440
Spondyloepiphyseal Dysplasia With Atlantoaxial Instability
Ankle clonus, Hand muscle atrophy, Hypoplasia of the capital femoral epiphysis, Joint laxity, Ton... OMIM:600561
Ritscher-Schinzel Syndrome 3
Wide anterior fontanel, Shortening of all distal phalanges of the fingers, Short 1st metacarpal, ... OMIM:619135
Campomelic Dysplasia
Poorly ossified cervical vertebrae, High palate, Respiratory distress, Apnea, Cleft palate, Femor... OMIM:114290
Spondylometaphyseal Dysplasia, Corner Fracture Type
Coxa vara, Metaphyseal irregularity, Scoliosis, Genu varum, Short femoral neck, Hyperconvex verte... OMIM:184255
Cenani-Lenz Syndrome
Hypoplasia of the radius, Short philtrum, Micromelia, Radioulnar synostosis, Hypoplasia of the ul... ORPHA:3258
Radial Hemimelia
Abnormality of the scaphoid, Abnormality of the trapezium, Deviation of the hand or of fingers of... ORPHA:93321
Acromesomelic Dysplasia, Maroteaux Type
Kyphosis, Beaking of vertebral bodies, Joint stiffness, Scoliosis, Abnormal form of the vertebral... ORPHA:40
Isolated Congenital Hypoglossia/Aglossia
Respiratory distress, Temporomandibular joint ankylosis, Cleft palate, Aspiration pneumonia, Micr... ORPHA:141152
Kyphomelic Dysplasia
Joint stiffness, Undulate ribs, Micrognathia, Micromelia, Abnormal form of the vertebral bodies, ... ORPHA:1801
Satb2-Associated Syndrome Due To A Chromosomal Rearrangement
High palate, Slender finger, Cleft palate, Abnormality of the dentition, Short philtrum, Short ne... ORPHA:251028
Müllerian Duct Anomalies-Limb Anomalies Syndrome
Aplasia/Hypoplasia of the ulna, Short humerus, Micromelia, Abnormality of the elbow, Postaxial ha... ORPHA:2491
Camptomelic Syndrome, Long-Limb Type
Micromelia, Bowing of the long bones OMIM:211990
Pierre Robin Sequence With Facial And Digital Anomalies
Short distal phalanx of finger, Clinodactyly of the 5th finger, Easily subluxated first metacarpo... OMIM:311895
Lethal Recessive Chondrodysplasia
Micrognathia, Micromelia, Limb undergrowth, Generalized osteosclerosis, Flared elbow metaphyses, ... ORPHA:1423
Spondyloepimetaphyseal Dysplasia, Isidor-Toutain Type
Coxa vara, Short long bone, Platyspondyly, Scoliosis, Genu varum, Enlarged metaphyses, Irregular ... OMIM:618728
Hypochondroplasia
Spinal canal stenosis, Abnormality of femur morphology, Short toe, Sleep apnea, Osteoarthritis, S... ORPHA:429
Congenital Arthrogryposis With Anterior Horn Cell Disease
High palate, Talipes equinovarus, Retrognathia, Micrognathia, Hip dysplasia, Neonatal death, Sing... OMIM:611890
Fibulo-Ulnar Hypoplasia-Renal Anomalies Syndrome
Finger syndactyly, Depressed nasal bridge, Micrognathia, Aplasia of the proximal phalanges of the... ORPHA:2256
Van Den Ende-Gupta Syndrome
High palate, Cleft palate, Craniosynostosis, Depressed nasal bridge, Femoral bowing, Tapered fing... OMIM:600920
Odontochondrodysplasia 1
Respiratory distress, Cone-shaped epiphyses of the phalanges of the hand, Platyspondyly, Micromel... OMIM:184260
Congenital Disorder Of Glycosylation, Type Ig
Talipes equinovarus, Short ribs, Hypoplasia of the radius, Short femur, Short tibia, Short humeru... OMIM:607143
Femur, Unilateral Bifid, With Monodactylous Ectrodactyly
Aplasia of the ulna, Hand monodactyly, Bifid femur, Split hand, Foot monodactyly, Absent tibia OMIM:228250
Spondylometaphyseal Dysplasia, A4 Type
Coxa vara, Short palm, Micromelia, Limitation of joint mobility ORPHA:168555
Hypophosphatemic Rickets With Hypercalciuria, Hereditary
Bowing of the legs, Tibial bowing, Metaphyseal irregularity, Delayed epiphyseal ossification, Rec... OMIM:241530
Ulna Metaphyseal Dysplasia Syndrome
Abnormal morphology of ulna, Depressed nasal ridge, Abnormal hip bone morphology, Abnormality of ... ORPHA:1837
Ophthalmomandibulomelic Dysplasia
Lateral humeral condyle aplasia, Camptodactyly of finger, Micromelia, Synostosis of carpal bones,... ORPHA:2741
Mueller-Weiss Syndrome
Talipes calcaneovarus, Edema of the dorsum of feet, Joint stiffness, Sclerosis of foot bone, Limi... ORPHA:566943
Diamond-Blackfan Anemia 11
Absent thumb, Hypoplasia of the radius, Radioulnar synostosis, Hypoplasia of the ulna, Abnormal d... OMIM:614900
W Syndrome
Radial bowing, Broad nasal tip, Depressed nasal bridge, Camptodactyly, Hypoplasia of the ulna, Br... ORPHA:2804
Diastrophic Dysplasia
Hip contracture, Kyphoscoliosis, Lumbar hyperlordosis, Talipes equinovarus, Cleft palate, Short l... OMIM:222600
Fibular Aplasia-Ectrodactyly Syndrome
Split hand, Aplasia/Hypoplasia of the fibula, Abnormal morphology of ulna ORPHA:1118
Maxillonasal Dysplasia
Short distal phalanx of finger, Tooth agenesis, Depressed nasal ridge, Cleft palate, Open bite, D... ORPHA:1248
Blount Disease
Abnormality of the knee, Abnormal tibial metaphysis morphology, Tibial bowing, Abnormality of the... ORPHA:2768
Spondyloepimetaphyseal Dysplasia, Shohat Type
Metaphyseal irregularity, Coxa vara, Lumbar hyperlordosis, Delayed epiphyseal ossification, Narro... OMIM:602557
Acrofacial Dysostosis Syndrome Of Rodriguez
High palate, Overlapping toe, Wide anterior fontanel, Narrow mouth, Talipes equinovarus, Short ti... OMIM:201170
Radial Hypoplasia, Triphalangeal Thumbs, Hypospadias, And Maxillary Diastema
Hypoplasia of the radius, Nonopposable triphalangeal thumb OMIM:179250
Symbrachydactyly Of Hands And Feet
Abnormality of the humeroulnar joint, Abnormal morphology of ulna, Abnormality of the humerus, Ap... ORPHA:1570
Lethal Osteosclerotic Bone Dysplasia
Respiratory distress, Gingival overgrowth, Depressed nasal ridge, Retrognathia, Micrognathia, Gin... ORPHA:1832
Endove Syndrome, Limb-Only Type
Aplasia of the distal phalanges of the toes, Short middle phalanx of the 2nd finger, Cutaneous sy... OMIM:619217
Metatropic Dysplasia
Kyphosis, Abnormal enchondral ossification, Clinodactyly of the 5th finger, Halberd-shaped pelvis... ORPHA:2635
Spondyloepimetaphyseal Dysplasia, Irapa Type
Coxa vara, Limitation of joint mobility, Osteoarthritis, Micromelia, Synostosis of carpal bones, ... ORPHA:93351
Melnick-Needles Syndrome
Cone-shaped epiphyses of the phalanges of the hand, Cleft palate, Delayed eruption of teeth, Oste... OMIM:309350
Odontochondrodysplasia
Respiratory distress, Dentinogenesis imperfecta, Retrognathia, Cone-shaped epiphysis, Platyspondy... ORPHA:166272
Ivic Syndrome
Carpal synostosis, Short clavicles, Absent thumb, Limited interphalangeal movement, Hypoplasia of... OMIM:147750
Split-Hand/Foot Malformation With Long Bone Deficiency 1
Aplasia/Hypoplasia of the ulna, Aplasia of the 3rd finger, Split foot, Short hallux, Hand monodac... OMIM:119100
Brachydactyly-Mesomelia-Intellectual Disability-Heart Defects Syndrome
Tooth agenesis, Convex nasal ridge, Micrognathia, Brachydactyly, Mesomelia, Abnormal shoulder mor... ORPHA:1277
Achondroplasia
Limited hip extension, Bowing of the legs, Lumbar hyperlordosis, Lumbar kyphosis in infancy, Mala... OMIM:100800
Spondyloepiphyseal Dysplasia With Congenital Joint Dislocations
High palate, Short neck, Hypoplasia of the capital femoral epiphysis, Delayed eruption of teeth, ... OMIM:143095
Spondyloepimetaphyseal Dysplasia, Di Rocco Type
Bowing of the legs, Metaphyseal dysplasia, Delayed ossification of carpal bones, Reduced bone min... OMIM:617974
Mesomelic Dysplasia, Nievergelt Type
Clinodactyly of the 5th finger, Abnormal morphology of ulna, Camptodactyly of finger, Micromelia,... ORPHA:2633
Postaxial Acrofacial Dysostosis
Malar flattening, Cleft palate, Hypoplasia of the radius, Micrognathia, Camptodactyly of finger, ... ORPHA:246
Ghosal Hematodiaphyseal Dysplasia
Abnormality of femur morphology, Craniofacial hyperostosis, Abnormal form of the vertebral bodies... ORPHA:1802
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2B, Prenatal Onset, Autosomal Dominant
Talipes equinovarus, Flexion contracture, Micrognathia, Overlapping fingers, Congenital hip dislo... OMIM:618291
Epiphyseal Dysplasia, Multiple, With Severe Proximal Femoral Dysplasia
Coxa vara, Epiphyseal dysplasia, Flat distal femoral epiphysis, Platyspondyly, Broad femoral neck... OMIM:609324
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 3
High palate, Osteopenia, Platyspondyly, Delayed eruption of teeth, Tapered finger, Flat capital f... OMIM:612350
Hyperekplexia 4
High palate, Talipes equinovarus, Flexion contracture, Adducted thumb, Camptodactyly, Distal arth... OMIM:618011
Pyle Disease
Metaphyseal dysplasia, Reduced bone mineral density, Metaphyseal widening, Platyspondyly, Scolios... OMIM:265900
Tibial Hemimelia-Polysyndactyly-Triphalangeal Thumb Syndrome
Aplasia/Hypoplasia of the tibia, Synostosis of carpal bones, Abnormality of fibula morphology, Pa... ORPHA:988
Acro-Renal-Mandibular Syndrome
High palate, Aplasia/Hypoplasia of the tongue, Split foot, Abnormality of the sense of smell, Hyp... ORPHA:958
Spondylometaphyseal Dysplasia With Corneal Dystrophy
Beaking of vertebral bodies, Increased intervertebral space, Short ribs, Metaphyseal widening, De... OMIM:618961
Gnathodiaphyseal Dysplasia
Recurrent fractures, Mandibular osteomyelitis, Osteopenia, Scoliosis, Broad jaw, Bowing of the lo... ORPHA:53697
Spondylometaphyseal Dysplasia, X-Linked
Hip contracture, Sclerosis of skull base, Hyperextensibility of the finger joints, Depressed nasa... OMIM:313420
Greenberg Dysplasia
Abnormal bone ossification, Anterior rib punctate calcifications, Abnormally ossified vertebrae, ... ORPHA:1426
Bullous Dystrophy, Hereditary Macular Type
Death in childhood, Acrocyanosis, Tapered finger, Short finger OMIM:302000
Immunodeficiency 43
Hypoplasia of the ulna, Radial bowing OMIM:241600
Ophthalmomandibulomelic Dysplasia
Radial bowing, Coxa valga, Lateral humeral condyle aplasia, Ulnar deviated club hands, Mesomelia,... OMIM:164900
Tibial Hemimelia
Radial club hand, Aplasia of the 2nd metacarpal, Talipes equinovarus, Absent hallux, Polydactyly,... ORPHA:93322
Robin Sequence With Cleft Mandible And Limb Anomalies
High palate, Cleft palate, Hypoplasia of the radius, Hip subluxation, Clinodactyly of the 5th fin... OMIM:268305
Multiple Metaphyseal Dysplasia
Short distal phalanx of finger, Abnormal hip bone morphology, Broad distal phalanx of finger, Bra... ORPHA:93430
3M Syndrome
Bulbous nose, Clinodactyly of the 5th finger, Everted lower lip vermilion, Congenital hip disloca... ORPHA:2616
Orofaciodigital Syndrome Iv
High palate, Accessory oral frenulum, Cleft palate, Postaxial polydactyly, Short tibia, Micrognat... OMIM:258860
Nephrosis With Deafness And Urinary Tract And Digital Malformations
Short distal phalanx of the thumb, Partial duplication of the distal phalanx of the hallux, Bifid... OMIM:256200
Nager Syndrome
Joint stiffness, Wide mouth, Cleft palate, Hypoplasia of the radius, Abnormal nasal morphology, M... ORPHA:245
Autosomal Dominant Limb-Girdle Muscular Dystrophy Type 1A
Reduced vital capacity, Limited knee flexion/extension, Shoulder girdle muscle weakness, Respirat... ORPHA:266
Microcephalic Osteodysplastic Primordial Dwarfism, Type Ii
Short 1st metacarpal, Cone-shaped epiphysis, Microdontia, Proximal femoral epiphysiolysis, Distal... OMIM:210720
Grant Syndrome
Micrognathia, Tibial bowing, Down-sloping shoulders OMIM:138930
Atelosteogenesis Type Iii
High palate, Abnormality of the humerus, Hand clenching, Patellar dislocation, Elbow dislocation,... ORPHA:56305
Familial Anetoderma
Lumbar hyperlordosis, High, narrow palate, Generalized joint laxity, Abnormality of tibia morphol... ORPHA:228277
Osteosclerosis With Ichthyosis And Fractures
Recurrent fractures, Tibial bowing, Cortical thickening of long bone diaphyses, Increased bone mi... OMIM:166740
Epiphyseal Dysplasia, Multiple, 7
Epiphyseal dysplasia, Advanced ossification of carpal bones, Platyspondyly, Monkey wrench femoral... OMIM:617719
Surfactant Metabolism Dysfunction, Pulmonary, 3
Respiratory distress, Apnea, Absent bronchoalveolar surfactant-protein C, Desquamative interstiti... OMIM:610921
Hypocalcemic Vitamin D-Dependent Rickets
Delayed epiphyseal ossification, Tibial bowing, Subperiosteal bone resorption, Sparse bone trabec... ORPHA:289157
Temtamy Preaxial Brachydactyly Syndrome
Proximal symphalangism of hands, Proximal radio-ulnar synostosis, Abnormality of the dentition, A... ORPHA:363417
Spondyloepimetaphyseal Dysplasia With Abnormal Dentition
Irregular vertebral endplates, Metaphyseal irregularity, Widely-spaced incisors, Slender finger, ... OMIM:601668
Multiple Epiphyseal Dysplasia Type 1
Delayed epiphyseal ossification, Coxa vara, Joint stiffness, Limitation of joint mobility, Finger... ORPHA:93308
Brachydactyly-Elbow Wrist Dysplasia Syndrome
Joint stiffness, Clinodactyly of the 5th finger, Abnormal morphology of ulna, Abnormality of the ... ORPHA:1275
Autosomal Recessive Distal Osteolysis Syndrome
Short distal phalanx of finger, Broad nasal tip, Abnormality of the dentition, Osteolysis, Hypopl... ORPHA:2776
Hypophosphatemic Rickets, X-Linked Recessive
Bowing of the legs, Tibial bowing, Metaphyseal irregularity, Delayed epiphyseal ossification, Rec... OMIM:300554
Spinal Muscular Atrophy, Type I
Respiratory insufficiency, Death in childhood, Respiratory failure, Tongue fasciculations OMIM:253300
Orofaciodigital Syndrome Ix
High palate, Accessory oral frenulum, Cleft palate, Short tibia, Abnormality of the dentition, Ca... OMIM:258865
Multiple Synostoses Syndrome 3
Cleft palate, Limited interphalangeal movement, Cutaneous syndactyly of toes, Metatarsal synostos... OMIM:612961
Epiphyseal Dysplasia, Multiple, 1
Irregular vertebral endplates, Epiphyseal dysplasia, Delayed epiphyseal ossification, Joint stiff... OMIM:132400
Diastrophic Dysplasia
Cleft palate, Micromelia, Symphalangism affecting the phalanges of the hand, Ulnar deviation of f... ORPHA:628
Short Rib-Polydactyly Syndrome
Cleft palate, Cone-shaped epiphysis, Micromelia, Bowing of the long bones, Respiratory failure, S... ORPHA:1505
Endosteal Hyperostosis, Worth Type
Craniofacial hyperostosis, Torus palatinus, Clavicular sclerosis, Abnormal form of the vertebral ... ORPHA:2790
Schneckenbecken Dysplasia
Metaphyseal irregularity, Advanced ossification of carpal bones, Narrow vertebral interpedicular ... OMIM:269250
Spondyloepimetaphyseal Dysplasia, Borochowitz-Cormier-Daire Type
Bowing of the legs, Lumbar hyperlordosis, Metaphyseal spurs, Dysplastic iliac wing, Narrow greate... OMIM:608728
Myopathy, Areflexia, Respiratory Distress, And Dysphagia, Early-Onset
Respiratory distress, High palate, Talipes equinovarus, Cleft palate, Camptodactyly of finger, Re... OMIM:614399
Congenital Insensitivity To Pain With Severe Intellectual Disability
Recurrent fractures, Tibial bowing, Osteomyelitis, Micrognathia, Talipes equinovalgus, Congenital... ORPHA:453510
Hypophosphatemic Bone Disease
Bowing of the legs, Osteomalacia, Rickets OMIM:146350
Spondyloepimetaphyseal Dysplasia Congenita, Strudwick Type
Laryngotracheomalacia, Delayed ossification of carpal bones, Abnormally ossified vertebrae, Gloss... ORPHA:93346
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia
High palate, Craniosynostosis, Hypoplasia of the radius, Hypoplasia of the ulna, Short nose, U-Sh... OMIM:609945
Parastremmatic Dwarfism
Kyphosis, Flexion contracture, Short neck, Scoliosis, Genu valgum, Bowing of the long bones OMIM:168400
Mesomelic Dysplasia, Kantaputra Type
Mesomelia, Carpal synostosis, Radial bowing, Tarsal synostosis OMIM:156232
Mesomelic Dysplasia, Kantaputra Type
Clinodactyly of the 5th finger, Camptodactyly of finger, Abnormality of the humerus, Synostosis o... ORPHA:1836
Distal Limb Deficiencies-Micrognathia Syndrome
High palate, Narrow mouth, Aplasia/Hypoplasia of the thumb, Microretrognathia, Abnormal morpholog... ORPHA:1307
Asbestos Intoxication
Interlobular septal thickening, Lung adenocarcinoma, Oxygen desaturation on exertion, Reduced vit... ORPHA:2302
Microcephaly-Micromelia Syndrome
Forearm undergrowth, Talipes equinovarus, Craniosynostosis, Short tibia, Micrognathia, Abnormalit... OMIM:251230
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
Pierre Robin Syndrome And Oligodactyly
Pierre-Robin sequence, Micrognathia, Cleft palate, Hand oligodactyly OMIM:172880
Platyspondylic Lethal Skeletal Dysplasia, Torrance Type
Metaphyseal cupping, Severe limb shortening, Thin ribs, Short ribs, Disc-like vertebral bodies, H... OMIM:151210
Microcephaly, Short Stature, And Limb Abnormalities
Dislocated radial head, Clinodactyly of the 5th finger, Hypoplasia of the radius, Brachydactyly, ... OMIM:617604
Dyggve-Melchior-Clausen Syndrome, X-Linked
Coxa vara, Cone-shaped epiphyses of the phalanges of the hand, Hypoplastic sacrum, Avascular necr... OMIM:304950
Caffey Disease
Bowing of the legs, Tibial bowing, Periosteal thickening of long tubular bones, Calvarial hyperos... OMIM:114000
Omodysplasia 1
Depressed nasal bridge, Short nose, Rhizomelia, Anterolateral radial head dislocation, Increased ... OMIM:258315
Hyperphosphatasia With Mental Retardation Syndrome 6
High palate, Hip contracture, Clinodactyly of the 5th finger, 2-3 toe syndactyly, Shortening of a... OMIM:616809
Micromelic Bone Dysplasia With Cloverleaf Skull
Micromelia OMIM:156830
Acromicric Dysplasia
Fifth metacarpal with ulnar notch, Narrow mouth, Short long bone, Cone-shaped epiphysis, Long phi... OMIM:102370
Acromesomelic Dysplasia, Hunter-Thompson Type
Joint stiffness, Brachydactyly, Abnormality of the ankles, Bilateral single transverse palmar cre... ORPHA:968
Autosomal Recessive Omodysplasia
Abnormality of femur morphology, Craniosynostosis, Hypoplastic distal humeri, Depressed nasal bri... ORPHA:93329
Nievergelt Syndrome
Talipes equinovarus, Radioulnar synostosis, Metatarsal synostosis, Mesomelia, Genu valgum, Tarsal... OMIM:163400
Aase-Smith Syndrome
Joint stiffness, Multiple joint contractures, Talipes equinovarus, Slender finger, Cleft palate, ... ORPHA:916
Jackson-Weiss Syndrome
2-3 toe syndactyly, Convex nasal ridge, Short metatarsal, Split foot, Broad hallux phalanx, Symph... ORPHA:1540
Spondyloepiphyseal Dysplasia Tarda, Autosomal Recessive, Leroy-Spranger Type
Irregular vertebral endplates, Decreased hip abduction, Lumbar hyperlordosis, Flat capital femora... OMIM:609223
Robinow Syndrome, Autosomal Recessive 1
Dental crowding, Wide mouth, Triangular mouth, Hypoplastic sacrum, Hypoplasia of the radius, Depr... OMIM:268310
Thoracomelic Dysplasia
Short ribs, Abnormality of fibula morphology, Limb undergrowth, Genu valgum, Elbow dislocation, A... ORPHA:1803
Acrocapitofemoral Dysplasia
Cone-shaped metacarpal epiphyses, Coxa vara, Abnormal femoral neck morphology, Flared iliac wing,... ORPHA:63446
Frontonasal Dysplasia 1
Median cleft palate, Joint contracture of the hand, Broad nasal tip, Brachydactyly, Bifid nose, C... OMIM:136760
Pseudoachondroplasia
Fragmented epiphyses, Irregular carpal bones, Fragmented, irregular epiphyses, Platyspondyly, Sma... OMIM:177170
Spondyloepimetaphyseal Dysplasia With Hypotrichosis
Increased anterior vertebral height, Proximal humeral metaphyseal irregularity, Coxa vara, Delaye... OMIM:183849
Metaphyseal Chondrodysplasia, Kaitila Type
Metaphyseal irregularity, Cone-shaped epiphyses of the phalanges of the hand, Short toe, Metaphys... OMIM:250230
Agenesis Of The Corpus Callosum With Peripheral Neuropathy
High palate, 2-3 toe syndactyly, Flexion contracture, Tapered finger, Long fingers, Short nose, H... OMIM:218000
Radio-Renal Syndrome
Respiratory distress, Convex nasal ridge, Chylothorax, High, narrow palate, Hypoplasia of the rad... ORPHA:3015
Keipert Syndrome
Short distal phalanx of finger, Clinodactyly of the 5th finger, Depressed nasal bridge, Broad hal... ORPHA:2662
Spondyloepimetaphyseal Dysplasia, Shohat Type
Short neck, Platyspondyly, Abnormal epiphysis morphology, Generalized bone demineralization, Prem... ORPHA:93352
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly
Respiratory distress, Short ribs, Hypoplasia of the radius, Depressed nasal bridge, Postaxial pol... OMIM:617895
Oncogenic Osteomalacia
Abnormality of femur morphology, Tibial bowing, Fibrous dysplasia of the bones, Pathologic fractu... ORPHA:352540
Surfactant Metabolism Dysfunction, Pulmonary, 1
Interlobular septal thickening, Apnea, Desquamative interstitial pneumonitis, Cyanosis, Intraalve... OMIM:265120
Cyanosis And Hepatic Disease
Dyspnea, Cyanosis, Clubbing OMIM:219400
Krabbe Disease, Atypical, Due To Saposin A Deficiency
Respiratory insufficiency, Respiratory failure, Death in infancy, Central apnea OMIM:611722
Metaphyseal Acroscyphodysplasia
Cone-shaped metacarpal epiphyses, Abnormality of femur morphology, Short toe, Cone-shaped epiphys... ORPHA:1240
Spondyloepiphyseal Dysplasia, Kimberley Type
Osteoarthritis, Abnormal epiphysis morphology, Micromelia ORPHA:93283
Craniofacial-Deafness-Hand Syndrome
Narrow mouth, Aplasia/Hypoplasia involving the nose, Depressed nasal ridge, Depressed nasal bridg... ORPHA:1529
Primary Pulmonary Hypoplasia
Apnea, Asthma, Hypoxemia, Cleft palate, Micrognathia, Cyanosis, Tachypnea, Pulmonary hypoplasia, ... ORPHA:2257
Postaxial Acrofacial Dysostosis
Cleft upper lip, Malar flattening, Cleft palate, Hypoplasia of the radius, Micrognathia, Congenit... OMIM:263750
Baller-Gerold Syndrome
High palate, Cleft palate, Hypoplasia of the radius, Hypoplasia of the ulna, Sagittal craniosynos... OMIM:218600
Miller-Dieker syndrome (MDS)
Frontal bossing, Midface retrusion, Abnormal heart morphology DECIPHER:21
Eye Defects-Arachnodactyly-Cardiopathy Syndrome
Clinodactyly of the 5th finger, Cleft palate, Abnormal hip bone morphology, Arachnodactyly, Radio... ORPHA:2725
Short Stature-Obesity Syndrome
Clinodactyly of the 5th finger, Micrognathia, Brachydactyly, Micromelia, Limb undergrowth OMIM:269870
Acromesomelic Dysplasia 2B
Short metatarsal, Talipes equinovalgus, Brachydactyly, Short phalanx of finger, Deviation of fing... OMIM:228900
Osteofibrous Dysplasia, Susceptibility To
Fibular hypoplasia, Pseudoarthrosis, Pathologic fracture OMIM:607278
Stickler Syndrome Type 1
Cleft palate, Osteoarthritis, Platyspondyly, Long philtrum, Abnormality of vertebral epiphysis mo... ORPHA:90653
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14
Flexion contracture of thumb, Miscarriage, Hepatoblastoma, Absent glenoid fossa, Short 1st metaca... ORPHA:96334
Spondyloepimetaphyseal Dysplasia, Matrilin-3 Type
Limb undergrowth, Bowing of the legs, Limited elbow extension ORPHA:156728
Distal Trisomy 5Q
Narrow mouth, Absent thumb, Craniosynostosis, Hypoplasia of the radius, Micrognathia, Thin vermil... ORPHA:96097
Achondroplasia
Rhizomelia, Short long bone, Spinal canal stenosis, Narrow greater sciatic notch, Hip joint hyper... ORPHA:15
Multiple Epiphyseal Dysplasia Type 4
High palate, Cleft palate, Upper limb undergrowth, Abnormal hand morphology, Arthralgia of the hi... ORPHA:93307
Developmental And Epileptic Encephalopathy 71
Respiratory insufficiency, Respiratory failure OMIM:618328
Thalidomide Embryopathy
Aplasia/Hypoplasia of the ulna, Upper limb phocomelia, Aplasia/hypoplasia of the humerus, Radial ... ORPHA:3312
Aarskog-Scott Syndrome
Cleft upper lip, Clinodactyly of the 5th finger, Finger syndactyly, Cleft palate, Everted lower l... ORPHA:915
Cranioectodermal Dysplasia 1
High palate, Microdontia, Single transverse palmar crease, Sagittal craniosynostosis, Rhizomelia,... OMIM:218330
Radial Ray Hypoplasia With Choanal Atresia
Hypoplasia of the radius, Small thenar eminence, Short thumb, Distally placed thumb OMIM:179270
Hip Dysplasia, Beukes Type
Abnormality of the epiphysis of the femoral head, Coxa vara, Abnormal bone ossification, Abnormal... ORPHA:2114
Blount Disease, Adolescent
Bowing of the legs, Genu varum OMIM:259200
Stuve-Wiedemann Syndrome 2
Respiratory distress, Scoliosis, Neonatal death, Death in adolescence, Camptodactyly, Bowing of t... OMIM:619751
Cleft Velum
Velopharyngeal insufficiency, Aspiration pneumonia, Hypoplasia of the maxilla, Cleft soft palate,... ORPHA:99772
Ulbright-Hodes Syndrome
Aplasia/Hypoplasia of the ulna, Respiratory distress, High palate, Short sternum, Hypoplasia of t... ORPHA:3404
Spondyloepimetaphyseal Dysplasia With Joint Laxity
High palate, Cleft palate, Platyspondyly, Ulnar deviation of finger, Abnormal epiphysis morpholog... ORPHA:93359
Postaxial Oligodactyly, Tetramelic
Aplasia of the 5th metacarpal, Radial bowing, Lunate-triquetral fusion, Absent fifth metatarsal, ... OMIM:176240
Split-Hand/Foot Malformation 3
High palate, Narrow mouth, Microretrognathia, Cleft palate, Camptodactyly, Hypoplasia of the maxi... OMIM:246560
Rhizomelic Dysplasia, Scoliosis, And Retinitis Pigmentosa
Short clavicles, Short ribs, Short humerus, Short femoral neck, Rhizomelia, Prominent deltoid tub... OMIM:610319
Otospondylomegaepiphyseal Dysplasia, Autosomal Recessive
Beaking of vertebral bodies, Epiphyseal dysplasia, Lumbar hyperlordosis, Cleft palate, Short long... OMIM:215150
Congenital Muscular Dystrophy, Ullrich Type
Slender finger, Increased laxity of fingers, Flexion contracture, Adducted thumb, Micrognathia, H... ORPHA:75840
Achondrogenesis Type 2
Abnormal bone ossification, Unossified sacrum, Delayed proximal femoral epiphyseal ossification, ... ORPHA:93296
Pde4D Haploinsufficiency Syndrome
Broad phalanx, Depressed nasal bridge, Cone-shaped epiphysis, Short philtrum, Upper limb undergro... ORPHA:439822
Nephrosis-Deafness-Urinary Tract-Digital Malformations Syndrome
Partial duplication of the distal phalanx of the hallux, Bifid uvula, Broad hallux, Abnormal thum... ORPHA:2669
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 3
High palate, Depressed nasal bridge, Osteopenia, Abnormality of the dentition, Long philtrum, Ost... OMIM:615398
Surfactant Metabolism Dysfunction, Pulmonary, 2
Respiratory distress, Absent bronchoalveolar surfactant-protein C, Desquamative interstitial pneu... OMIM:610913
Kdm5C-Related Syndromic X-Linked Intellectual Disability
High palate, Talipes equinovarus, Camptodactyly of finger, Tapered finger, Hypoplasia of the maxi... ORPHA:85279
Spondylo-Megaepiphyseal-Metaphyseal Dysplasia
Coxa vara, Metaphyseal dysplasia, Metaphyseal irregularity, Flexion contracture, Abnormally ossif... OMIM:613330
Ehlers-Danlos Syndrome, Dermatosparaxis Type
Short toe, Wide anterior fontanel, Gingival hyperkeratosis, Gingival overgrowth, Recurrent mandib... OMIM:225410
Verloove Vanhorick-Brubakk Syndrome
Abnormality of femur morphology, Cleft palate, Micrognathia, Abnormal form of the vertebral bodie... ORPHA:3429
Osteogenesis Imperfecta, Type Xvi
Recurrent fractures, Tooth agenesis, Microretrognathia, Joint hypermobility, Bruising susceptibil... OMIM:616229
Cleft Palate, Deafness, And Oligodontia
No permanent dentition, Oligodontia of primary teeth, Short hallux, Sandal gap, Cleft soft palate OMIM:216300
Dent Disease 1
Bowing of the legs, Tibial bowing, Metaphyseal irregularity, Delayed epiphyseal ossification, Rec... OMIM:300009
Imperforate Oropharynx-Costovertebral Anomalies Syndrome
Respiratory distress, Clinodactyly of the 5th finger, Aplasia/Hypoplasia of the tongue, Abnormal ... ORPHA:2759
Satb2-Associated Syndrome Due To A Pathogenic Variant
High palate, Clinodactyly of the 5th finger, Gastroesophageal reflux, Cleft palate, Micrognathia,... ORPHA:576283
Dysplastic Cortical Hyperostosis
Limb undergrowth, Abnormal cortical bone morphology, Abnormality of limb bone morphology, Increas... ORPHA:2204
Zimmermann-Laband Syndrome 3
Short distal phalanx of finger, Kyphosis, Long hallux, High palate, Gingival overgrowth, Flexion ... OMIM:618658
Myopathy, Myofibrillar, Fatal Infantile Hypertonic, Alpha-B Crystallin-Related
Apnea, Respiratory insufficiency, Respiratory failure, Flexion contracture OMIM:613869
Mitochondrial Complex I Deficiency, Nuclear Type 30
Respiratory failure, Neonatal death OMIM:301021
Mohr Syndrome
High palate, Cleft palate, Broad nasal tip, Depressed nasal bridge, Lobulated tongue, Tongue nodu... OMIM:252100
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly
Metaphyseal irregularity, Cone-shaped epiphyses of the phalanges of the hand, Jaundice, Short rib... OMIM:208500
Spondyloepiphyseal Dysplasia Congenita
Cleft palate, Abnormally ossified vertebrae, Platyspondyly, Short neck, Upper limb undergrowth, G... ORPHA:94068
Cerebrooculofacioskeletal Syndrome 3
Talipes equinovarus, Cleft palate, Micrognathia, Cutaneous photosensitivity, Arthrogryposis multi... OMIM:616570
Chondrodysplasia, Blomstrand Type
Advanced ossification of carpal bones, Short ribs, Micrognathia, Flared metaphysis, Micromelia, G... OMIM:215045
Rhizomelic Syndrome, Urbach Type
Short distal phalanx of finger, Kyphosis, Wide anterior fontanel, High palate, Abnormality of the... ORPHA:3098
Pallister-Hall-Like Syndrome
Cleft palate, Short ribs, Depressed nasal bridge, Micrognathia, Micromelia, Postaxial hand polyda... OMIM:241800
Renal Dysplasia-Limb Defects Syndrome
Aplasia of the ulna, Respiratory distress, High palate, Narrow mouth, Convex nasal ridge, Short s... OMIM:266910
Craniofacial Dysostosis With Diaphyseal Hyperplasia
Limb undergrowth, Brachydactyly, Micromelia, Massively thickened long bone cortices OMIM:122900
Atelosteogenesis Type Ii
Broad phalanx, Cleft palate, Short neck, Micromelia, Rhizomelic arm shortening, Upper limb underg... ORPHA:56304
Coxoauricular Syndrome
Abnormality of femur morphology, Reduced bone mineral density, Micromelia, Abnormal pelvic girdle... ORPHA:1508
Thrombocytopenia-Absent Radius Syndrome
Aplasia/Hypoplasia of the ulna, Clinodactyly of the 5th finger, Finger syndactyly, Adducted thumb... ORPHA:3320
Arthrogryposis, Distal, Type 3
High palate, Cleft palate, Short neck, Congenital hip dislocation, Down-sloping shoulders, Decrea... OMIM:114300
Thrombocytopenia-Absent Radius Syndrome
Absent thumb, Cleft palate, Hypoplasia of the radius, Femoral bowing, Hypoplasia of the ulna, Sho... OMIM:274000
Temple Syndrome
High palate, Cleft palate, Flexion contracture, Small hand, Micrognathia, Short philtrum, Scolios... OMIM:616222
Dyssegmental Dysplasia, Silverman-Handmaker Type
Narrow mouth, Talipes equinovarus, Malar flattening, Micrognathia, Neonatal death, Anisospondyly,... OMIM:224410
Arthrogryposis Multiplex Congenita 6
Adducted thumb, Death in childhood, Neonatal death, Death in infancy, Arthrogryposis multiplex co... OMIM:619334
Spondyloepimetaphyseal Dysplasia, Irapa Type
Coxa vara, Metaphyseal dysplasia, Hypoplastic sacrum, Osteoarthritis, Broad femoral neck, Upper l... OMIM:271650
Lipodystrophy, Generalized, With Mental Retardation, Deafness, Short Stature, And Slender Bones
Progeroid facial appearance, Slender long bones with narrow diaphyses, Osteopenia, Metaphyseal st... OMIM:608154
Mesomelia-Synostoses Syndrome
Abnormality of femur morphology, Bulbous nose, Micromelia, Abnormality of the humerus, Ulnar devi... ORPHA:2496
Brachydactyly, Type B1
Wide anterior fontanel, Joint contracture of the hand, Hypoplastic sacrum, Hemivertebrae, Syndact... OMIM:113000
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly
Cleft palate, Femoral bowing, Cone-shaped epiphysis, Short digit, Hypoplasia of the ulna, Short l... OMIM:613091
Duane-Radial Ray Syndrome
Absent thumb, Hypoplasia of the radius, Hypoplasia of the ulna, Sandal gap, Anal atresia, Pectora... OMIM:607323
Brachymesomelia-Renal Syndrome
Hypoplasia of the radius, Micrognathia, Single transverse palmar crease, Mesomelic arm shortening... OMIM:113470
20P12.3 Microdeletion Syndrome
Narrow mouth, Malar flattening, Depressed nasal bridge, Broad hallux phalanx, Long philtrum, Broa... ORPHA:261295
Vacterl Association With Hydrocephalus
Anal atresia, Absent thumb, Radial club hand, Respiratory insufficiency, Respiratory failure, Sti... OMIM:276950
Dysostosis, Stanescu Type
Tooth agenesis, Convex nasal ridge, Increased bone mineral density, Massively thickened long bone... ORPHA:1798
Restrictive Dermopathy 2
Respiratory distress, Short clavicles, Microretrognathia, Gastroesophageal reflux, Cyanosis, Rect... OMIM:619793
Laron Syndrome
Limb undergrowth, Short long bone OMIM:262500
Dyssegmental Dysplasia, Silverman-Handmaker Type
Bowing of the legs, Narrow mouth, Broad long bones, Talipes equinovarus, Miscarriage, Cleft palat... ORPHA:1865
Orofaciodigital Syndrome Type 2
High palate, Apnea, Cone-shaped epiphyses of the phalanges of the hand, Cleft palate, Complete du... ORPHA:2751
Short-Rib Thoracic Dysplasia 16 With Or Without Polydactyly
Short distal phalanx of finger, Respiratory distress, Cone-shaped epiphyses of the phalanges of t... OMIM:617102
Midline Malformations, Multiple, With Limb Abnormalities And Hypopituitarism
Joint contracture of the hand, Overlapping fingers, Micromelia, Camptodactyly, Limb undergrowth OMIM:601016
Greenberg Dysplasia
Anterior rib punctate calcifications, Depressed nasal ridge, Depressed nasal bridge, 11 pairs of ... OMIM:215140
Pontocerebellar Hypoplasia, Type 1C
Respiratory insufficiency, Respiratory failure, Flexion contracture OMIM:616081
Martsolf Syndrome 1
High palate, Finger joint hypermobility, Broad nasal tip, Depressed nasal bridge, Short philtrum,... OMIM:212720
Crouzon Syndrome-Acanthosis Nigricans Syndrome
Convex nasal ridge, Malar flattening, Respiratory insufficiency, Brachydactyly, Abnormal metacarp... ORPHA:93262
Multiple Epiphyseal Dysplasia, Beighton Type
Biconcave vertebral bodies, Arthralgia of the hip, Genu valgum, Pedal edema, Intervertebral space... ORPHA:166011
X-Linked Hypophosphatemia
Craniosynostosis, Upper limb metaphyseal widening, Genu valgum, Abnormal epiphysis morphology, Bo... ORPHA:89936
Laurin-Sandrow Syndrome
Preaxial foot polydactyly, Absent tibia, Absent radius, Preaxial hand polydactyly, Limb duplicati... ORPHA:2378
Atrioventricular Defect-Blepharophimosis-Radial And Anal Defect Syndrome
Anal atresia, Clinodactyly of the 5th finger, Micrognathia, Absent radius, Hypoplasia of the ulna... ORPHA:1352
Catel-Manzke Syndrome
Joint stiffness, Clinodactyly of the 5th finger, Radial deviation of the 2nd finger, Malar flatte... ORPHA:1388
Pycnodysostosis
High palate, Abnormality of the dentition, Carious teeth, Rhizomelia, Hypoplasia of the maxilla, ... ORPHA:763
Andersen Cardiodysrhythmic Periodic Paralysis
High palate, Bulbous nose, Cleft palate, Small finger, Hypoplasia of the maxilla, Clinodactyly of... OMIM:170390
Multicentric Carpotarsal Osteolysis Syndrome
Ulnar deviation of the hand, Metatarsal osteolysis, Osteopenia, Micrognathia, Bilateral elbow dis... OMIM:166300
Lujan-Fryns Syndrome
High palate, Arachnodactyly, Micrognathia, Camptodactyly of finger, Abnormality of the dentition,... ORPHA:776
Pulmonary Alveolar Proteinosis, Acquired
Cyanosis, Intraalveolar phospholipid accumulation, Cough, Decreased DLCO, Pneumonia, Restrictive ... OMIM:610910
Dysosteosclerosis
High palate, Short sternum, Osteopenia, Platyspondyly, Delayed eruption of teeth, Broad ribs, Scl... OMIM:224300
Codas Syndrome
Anal atresia, Metaphyseal dysplasia, Delayed ossification of carpal bones, Generalized joint laxi... OMIM:600373
Terminal Osseous Dysplasia
Multiple joint contractures, Short toe, Mesomelic leg shortening, Toe clinodactyly, Malar flatten... OMIM:300244
Atrioventricular Septal Defect With Blepharophimosis And Anal And Radial Defects
Anal atresia, Clinodactyly of the 5th finger, Micrognathia, Absent radius, Hypoplasia of the ulna... OMIM:600123
Cardioacrofacial Dysplasia 1
Accessory oral frenulum, Postaxial polydactyly, Short philtrum, Diastema, Overhanging nasal tip, ... OMIM:619142
Platyspondylic Dysplasia, Torrance Type
Short distal phalanx of finger, Metaphyseal cupping, Malar flattening, Cleft palate, Depressed na... ORPHA:85166
Otopalatodigital Syndrome Type 1
Short distal phalanx of finger, Anodontia, Increased bone mineral density, Cleft palate, Abnormal... ORPHA:90650
Spondyloepimetaphyseal Dysplasia, X-Linked
Broad phalanx, Cone-shaped epiphyses of the phalanges of the hand, Anterior wedging of T11, Platy... OMIM:300106
Choanal Atresia
Respiratory distress, Tracheomalacia, Craniosynostosis, Cyanosis, Polydactyly, Abnormal nasal muc... ORPHA:137914
Spondyloepiphyseal Dysplasia Congenita
Respiratory distress, Cleft palate, Platyspondyly, Short neck, Limitation of knee mobility, Ovoid... OMIM:183900
Pfeiffer Syndrome
High palate, Elbow ankylosis, Coronal craniosynostosis, Depressed nasal bridge, Short middle phal... OMIM:101600
Schwartz-Jampel Syndrome, Type 1
High palate, Pursed lips, Platyspondyly, Short neck, Micromelia, Congenital hip dislocation, Ante... OMIM:255800
Rhizomelic Chondrodysplasia Punctata
Abnormality of the dentition, Scoliosis, Spina bifida occulta, Limb undergrowth, Rhizomelia, Abno... ORPHA:177
Desbuquois Dysplasia 2
Cleft palate, Cutaneous syndactyly, Platyspondyly, Short neck, Monkey wrench femoral neck, Short ... OMIM:615777
Neuralgic Amyotrophy
Narrow mouth, Cleft palate, Respiratory insufficiency, Scapular winging, Acrocyanosis ORPHA:2901
Atelosteogenesis Type I
Malrotation of colon, Talipes equinovarus, Cleft palate, Short femur, Abnormal ossification invol... ORPHA:1190
Craniosynostosis, Herrmann-Opitz Type
Convex nasal ridge, Malar flattening, Craniosynostosis, Cleft palate, Micrognathia, Micromelia, B... ORPHA:2145
Intellectual Disability-Obesity-Prognathism-Eye And Skin Anomalies Syndrome
Cone-shaped epiphyses of the toes, Cone-shaped epiphyses of the 4th toe, Cone-shaped epiphyses of... ORPHA:397973
Short-Rib Thoracic Dysplasia 21 Without Polydactyly
Trident pelvis, Flexion contracture, Depressed nasal bridge, Short humerus, Brachydactyly, Microd... OMIM:619479
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 2
Streaky metaphyseal sclerosis, Congenital hip dislocation, Hypoplasia of the capital femoral epip... OMIM:603546
Premature Aging Syndrome, Penttinen Type
Thin vermilion border, Osteopenia, Micrognathia, Narrow nose, Delayed eruption of teeth, Brachyda... OMIM:601812
Non-Eruption Of Teeth-Maxillary Hypoplasia-Genu Valgum Syndrome
Hypodontia, Malar flattening, Maxillozygomatic hypoplasia, Delayed eruption of teeth, Genu valgum... ORPHA:2972
Acromesomelic Dysplasia 1
Broad metacarpals, Broad phalanx, Cone-shaped epiphyses of the phalanges of the hand, Long hallux... OMIM:602875
Dermatosparaxis Ehlers-Danlos Syndrome
Coxa vara, Joint stiffness, Hiatus hernia, Gastroesophageal reflux, Excessive wrinkled skin, Micr... ORPHA:1901
Spondyloepimetaphyseal Dysplasia, Strudwick Type
Metaphyseal irregularity, Coxa vara, Cleft palate, Club-shaped proximal femur, Narrow greater sci... OMIM:184250
Respiratory Bronchiolitis-Interstitial Lung Disease Syndrome
Reduced FEV1/FVC ratio, Chronic pulmonary obstruction, Chronic bronchitis, Hypoxemia, Nonproducti... ORPHA:79127
Brachytelephalangic Chondrodysplasia Punctata
C1-C2 subluxation, Hypoplasia of the maxilla, Epiphyseal stippling of toe phalanges, Epiphyseal s... ORPHA:79345
Geleophysic Dysplasia 3
Epiphyseal dysplasia, Bulbous nose, Sleep apnea, Depressed nasal bridge, Brachydactyly, Long phil... OMIM:617809
Alagille Syndrome
Short distal phalanx of finger, Telangiectasia of the skin, Peripheral pulmonary artery stenosis,... ORPHA:52
Rothmund-Thomson Syndrome
Abnormal dental enamel morphology, Telangiectasia of the skin, Selective tooth agenesis, Supernum... ORPHA:2909
Axial Spondylometaphyseal Dysplasia
Osteopenia, Platyspondyly, Upper limb undergrowth, Flared, irregular rib ends, Narrow greater sci... ORPHA:168549
Polydactyly, Postaxial, With Dental And Vertebral Anomalies
Dens in dente, Hemivertebrae, Macrodontia, Mandibular prognathia, Spinal canal stenosis, Clinodac... OMIM:263540
Meckel Syndrome, Type 9
Limb undergrowth, Talipes equinovarus OMIM:614209
Achondrogenesis Type 1A
Recurrent fractures, Micrognathia, Micromelia, Long philtrum, Short nose, Short foot, Anteverted ... ORPHA:93299
Microcephalic Osteodysplastic Primordial Dwarfism, Type I
Femoral bowing, 11 pairs of ribs, Micromelia, Single transverse palmar crease, Prolonged neonatal... OMIM:210710
Fatco Syndrome
Absent hand, Respiratory insufficiency, Abnormality of tibia morphology, Abnormality of fibula mo... ORPHA:2492
Craniosynostosis With Fibular Aplasia
Single transverse palmar crease, Fibular aplasia, Craniosynostosis OMIM:218550
Cohen Syndrome
Convex nasal ridge, Macrodontia of permanent maxillary central incisor, High, narrow palate, Open... OMIM:216550
Dysspondyloenchondromatosis
Vertebral segmentation defect, Kyphoscoliosis, Generalized joint laxity, Osteoarthritis, Platyspo... ORPHA:85198
Tetrasomy 5P
Respiratory distress, Overlapping toe, Wide anterior fontanel, Clinodactyly of the 5th finger, Ta... ORPHA:3309
Distal Monosomy 17Q
Narrow mouth, Abnormal hip bone morphology, Small hand, Respiratory insufficiency, Aplasia/Hypopl... ORPHA:1597
Holzgreve Syndrome
Joint stiffness, Abnormal morphology of ulna, Aplasia/Hypoplasia of the tongue, Abnormally ossifi... ORPHA:2167
Nemaline Myopathy 8
Respiratory failure, Death in infancy, Flexion contracture OMIM:615348
Brachydactyly-Ectrodactyly With Fibular Aplasia Or Hypoplasia
Split foot, Aplasia/Hypoplasia of the fibula, Brachydactyly, Short phalanx of finger, Fibular apl... OMIM:113310
Ceroid Lipofuscinosis, Neuronal, 10
Apnea, Respiratory insufficiency, Neonatal death, Split hand, Respiratory failure OMIM:610127
Spondyloepimetaphyseal Dysplasia, Aggrecan Type
Lumbar hyperlordosis, Malar flattening, Metaphyseal widening, Platyspondyly, Short neck, Brachyda... OMIM:612813
Moebius Syndrome
High palate, Aplasia/Hypoplasia of the tongue, Cleft palate, Microdontia, Open mouth, Clinodactyl... ORPHA:570
Acrocephalopolydactyly
Genu recurvatum, Short neck, Brachydactyly, Limb undergrowth, Short long bone ORPHA:221054
Idiopathic Bronchiectasis
Reduced FEV1/FVC ratio, Crackles, Dyspnea, Acute infectious pneumonia, Wheezing, Recurrent lower ... ORPHA:60033
Vacterl Association, X-Linked, With Or Without Hydrocephalus
Anal atresia, Tracheoesophageal fistula, Short humerus, Hand polydactyly, Proximal placement of t... OMIM:314390
Hypocalcemic Vitamin D-Resistant Rickets
Recurrent fractures, Bone cyst, Abnormal hip bone morphology, Abnormality of the dentition, Scoli... ORPHA:93160
Autosomal Recessive Stickler Syndrome
Irregular vertebral endplates, Epiphyseal dysplasia, Cleft palate, Malar flattening, Micrognathia... ORPHA:250984
Multiple Osteochondromas
Abnormality of femur morphology, Hemothorax, Limitation of knee mobility, Abnormal bone structure... ORPHA:321
Epiphyseal Dysplasia, Multiple, With Miniepiphyses
Epiphyseal dysplasia, Lumbar hyperlordosis, Generalized joint laxity, Broad femoral neck, Short f... OMIM:609325
Acrofacial Dysostosis, Rodríguez Type
Aplasia/Hypoplasia of the ulna, Talipes equinovarus, Microretrognathia, Hand oligodactyly, Radiou... ORPHA:1788
Progressive Pseudorheumatoid Arthropathy Of Childhood
Platyspondyly, Irregular acetabular roof, Genu valgum, Generalized osteoporosis, Vertebral wedgin... ORPHA:1159
Jeune Syndrome
Cone-shaped epiphysis, Respiratory insufficiency, Micromelia, Brachydactyly, Postaxial hand polyd... ORPHA:474
Spondyloepiphyseal Dysplasia Tarda
Abnormally ossified vertebrae, Short neck, Platyspondyly, Biconcave vertebral bodies, Arthralgia ... ORPHA:93284
Dyggve-Melchior-Clausen Disease
Broad carpal bones, Platyspondyly, Short neck, Hypoplasia of the capital femoral epiphysis, Abnor... ORPHA:239
Coffin-Lowry Syndrome
High palate, Wide mouth, Depressed nasal bridge, Broad finger, Delayed eruption of teeth, Advance... ORPHA:192
Epiphyseal Stippling-Osteoclastic Hyperplasia Syndrome
Abnormal bone ossification, Genu varum, Bowing of the long bones, Coronal cleft vertebrae, Coarse... ORPHA:1952
Paget Disease Of Bone 5, Juvenile-Onset
Recurrent fractures, Premature loss of teeth, Increased bone mineral density, Osteopenia, Short h... OMIM:239000
Hall-Riggs Syndrome
Wide mouth, Joint stiffness, Platyspondyly, Scoliosis, Brachydactyly, Delayed eruption of teeth, ... ORPHA:2107
Muscular Dystrophy, Congenital, 1B
Shoulder girdle muscle weakness, Respiratory failure, Achilles tendon contracture OMIM:604801
Cerebrocostomandibular Syndrome
High palate, Calcaneal epiphyseal stippling, Clinodactyly of the 5th finger, Malar flattening, Gl... OMIM:117650
Achondrogenesis Type 1B
Talipes equinovarus, Micrognathia, Micromelia, Long philtrum, Short nose, Short foot, Anteverted ... ORPHA:93298
Achondrogenesis, Type Ib
Malar flattening, Short ribs, Hypoplastic ilia, Respiratory insufficiency, Micromelia, Absent or ... OMIM:600972
Leri-Weill dyschondrostosis (LWD) - SHOX deletion
Radial bowing, Limited pronation/supination of forearm, Madelung deformity DECIPHER:58
Immunodeficiency 95
Respiratory distress, Recurrent viral upper respiratory tract infections, Recurrent viral pneumon... OMIM:619773
Ruvalcaba Syndrome
Small hand, Micromelia, Short phalanx of finger, Limited elbow extension, Short foot, Short palm,... OMIM:180870
Osteogenesis Imperfecta, Type X
Dentinogenesis imperfecta, Thin ribs, Malar flattening, Generalized joint laxity, Micrognathia, O... OMIM:613848
Glutamine Deficiency, Congenital
Apnea, Flexion contracture, Thin vermilion border, Depressed nasal bridge, Micromelia, Erythema, ... OMIM:610015
Acrorenal-Mandibular Syndrome
High palate, Narrow palate, Split foot, Hypoplasia of the radius, Micrognathia, Hand polydactyly,... OMIM:200980
Achondrogenesis
Micrognathia, Micromelia, Long philtrum, Abnormality of bone mineral density, Short nose, Antever... ORPHA:932
Intellectual Developmental Disorder, X-Linked, Syndromic, Armfield Type
Cleft palate, Malar flattening, Small hand, Abnormal hand morphology, Short foot OMIM:300261
Multicentric Osteolysis, Nodulosis, And Arthropathy
Bulbous nose, Osteopenia, Delayed eruption of teeth, Thin bony cortex, Thin metacarpal cortices, ... OMIM:259600
Achondrogenesis, Type Ia