Registered for phenotyping at IMPC

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

Gene Summary

Name:
KDM1 lysine (K)-specific demethylase 6B
Synonyms:
Jmjd3

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 Kdm6b 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 Kdm6b by orthology or direct annotation.

Disease Similarity of
phenotypes
Matching phenotypes Source
Stolerman Neurodevelopmental Syndrome
Joint hypermobility, Clinodactyly of the 5th finger, Broad palm, Syndactyly OMIM:618505

The table below shows human diseases predicted to be associated to Kdm6b by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Granulomas, Congenital Cerebral
Neonatal death OMIM:306300
Genitourinary Tract Anomalies
Neonatal death OMIM:305690
Acromesomelic Dysplasia 2A
Acromesomelia, Short tibia, Stillbirth, Aplasia/Hypoplasia involving the metacarpal bones, Distal... OMIM:200700
Rhizomelic Dysplasia, Ain-Naz Type
Platyspondyly, Rhizomelia, Limitation of joint mobility, Wide distal femoral metaphysis, Short hu... OMIM:619598
Rhizomelic Chondrodysplasia Punctata, Type 3
Rhizomelia, Epiphyseal stippling, Short humerus, Short femur OMIM:600121
Pseudoachondroplasia
Delayed epiphyseal ossification, Hypoplasia of the odontoid process, Genu valgum, Wind-swept defo... ORPHA:750
Angioosteohypotrophic Syndrome
Abnormal trabecular bone morphology, Upper limb undergrowth, Aplasia/hypoplasia involving bones o... ORPHA:75508
Femur-Fibula-Ulna Complex
Aplasia/Hypoplasia of the radius, Finger syndactyly, Micromelia, Abnormal femur morphology, Humer... ORPHA:2019
Atelosteogenesis, Type Ii
Micrognathia, Increased intervertebral space, Talipes equinovarus, Short neck, Short greater scia... OMIM:256050
Acrocapitofemoral Dysplasia
Short tibia, Radial bowing, Hypoplastic iliac wing, Dysplasia of the femoral head, Cone-shaped ep... OMIM:607778
Rhizomelic Chondrodysplasia Punctata, Type 5
Metaphyseal irregularity, Metaphyseal cupping, Contractures of the large joints, Short humerus, T... OMIM:616716
Osseous Heteroplasia, Progressive
Ankylosis, Limb undergrowth, Ectopic ossification in muscle tissue OMIM:166350
Metaphyseal Chondrodysplasia, Schmid Type
Abnormal vertebral morphology, Radial metaphyseal irregularity, Genu varum, Irregular vertebral e... ORPHA:174
Episodic Pain Syndrome, Familial, 3
Abnormal autonomic nervous system physiology OMIM:615552
Rhizomelic Dysplasia, Patterson-Lowry Type
Platyspondyly, Rhizomelia, Deformed humeral heads, Short humerus, Brachydactyly, Coxa vara, Short... OMIM:601438
Hip Dysplasia, Beukes Type
Broad femoral neck, Abnormal epiphysis morphology, Abnormality of the epiphysis of the femoral he... ORPHA:2114
Venular Insufficiency, Systemic
Cyanosis OMIM:192700
Sulfhemoglobinemia, Congenital
Cyanosis OMIM:185460
Diffuse Palmoplantar Keratoderma-Acrocyanosis Syndrome
Acrocyanosis ORPHA:86918
Brachyolmia Type 1, Hobaek Type
Platyspondyly, Osteopenia, Short iliac bones, Flattened proximal radial epiphyses, Kyphosis, Squa... OMIM:271530
Diaphragmatic Defect-Limb Deficiency-Skull Defect Syndrome
Aplasia/Hypoplasia of the radius, Finger syndactyly, Abnormal femur morphology, Aplasia/hypoplasi... ORPHA:2141
Chondrodysplasia Punctata, Tibia-Metacarpal Type
Short 3rd metacarpal, Short tibia, Micromelia, Epiphyseal stippling, Short 4th metacarpal, Limb u... OMIM:118651
Rhizomelic Dysplasia, Patterson-Lowry Type
Rhizomelia, Deviation of finger, Abnormal form of the vertebral bodies, Genu valgum, Deformed hum... ORPHA:2831
Parastremmatic Dwarfism
Genu valgum, Bowing of the long bones, Short neck, Flexion contracture, Scoliosis, Kyphosis OMIM:168400
Short Stature, Auditory Canal Atresia, Mandibular Hypoplasia, And Skeletal Abnormalities
Hypoplastic scapulae, Rhizomelia, Flared metaphysis, Delayed ossification of pubic rami, Lumbar h... OMIM:602471
Atelosteogenesis, Type I
Radial bowing, Elbow dislocation, Fibular aplasia, Micrognathia, Neonatal death, Talipes equinova... OMIM:108720
Acromesomelic Dysplasia, Maroteaux Type
Acromesomelia, Abnormal form of the vertebral bodies, Vertebral wedging, Joint stiffness, Joint h... ORPHA:40
Metaphyseal Dysplasia Without Hypotrichosis
Abnormal pelvic girdle bone morphology, Metaphyseal cupping of metacarpals, Abnormality of the ve... OMIM:250460
Perching Syndrome
Camptodactyly, Scoliosis, Cyanosis, Joint contracture OMIM:617055
Rhizomelic Chondrodysplasia Punctata, Type 2
Osteopenia, Abnormal pelvic girdle bone morphology, Rhizomelia, Stippled calcification proximal h... OMIM:222765
Methemoglobinemia, Beta Type
Cyanosis OMIM:617971
Methemoglobinemia, Alpha Type
Cyanosis OMIM:617973
Metatropic Dysplasia
Epiphyseal dysplasia, Hypoplasia of the odontoid process, Caudal appendage, Genu valgum, Flat ace... OMIM:156530
Orthostatic Intolerance
Orthostatic tachycardia OMIM:604715
Bullous Dystrophy, Hereditary Macular Type
Tapered finger, Acrocyanosis, Death in childhood, Short finger OMIM:302000
Emphysema, Hereditary Pulmonary
Emphysema, Chronic bronchitis OMIM:130700
Spondyloepiphyseal Dysplasia Tarda
Enlarged metaphyses, Finger swelling, Hypoplasia of the odontoid process, Limitation of joint mob... ORPHA:93284
Dysautonomia-Like Disorder
Abnormal autonomic nervous system physiology OMIM:224000
Winchester Syndrome
Carpal osteolysis, Osteolysis involving tarsal bones, Generalized osteoporosis, Broad metacarpals... OMIM:277950
Diastrophic Dysplasia
Ulnar deviation of finger, Cervical kyphosis, Hypoplastic cervical vertebrae, Short finger, Irreg... OMIM:222600
Lethal Congenital Contracture Syndrome 3
Neonatal death OMIM:611369
Odontochondrodysplasia 1
Flat acetabular roof, Cone-shaped epiphyses of the phalanges of the hand, Genu varum, Short metac... OMIM:184260
Metatropic Dysplasia
Scoliosis, Coarse metaphyseal trabecularization, Hypoplastic cervical vertebrae, Abnormal form of... ORPHA:2635
Pulmonary Hypoplasia, Primary
Neonatal death, Pulmonary hypoplasia OMIM:265430
Hypochondroplasia
Abnormal pelvic girdle bone morphology, Short toe, Abnormal form of the vertebral bodies, Spinal ... ORPHA:429
Omodysplasia 2
Broad femoral neck, Short 1st metacarpal, Limited elbow flexion, Rhizomelic arm shortening, Micro... OMIM:164745
Multiple Synostoses Syndrome 1
Carpal synostosis, Cutaneous finger syndactyly, Proximal/middle symphalangism of 5th toe, Lower l... OMIM:186500
Boomerang Dysplasia
Finger syndactyly, Micromelia, Abnormal tibia morphology, Abnormal femur morphology, Abnormal mor... ORPHA:1263
Müllerian Duct Anomalies-Limb Anomalies Syndrome
Micromelia, Abnormality of the wrist, Short humerus, Aplasia/Hypoplasia of the ulna, Split hand, ... ORPHA:2491
Spondylometaphyseal Dysplasia, Kozlowski Type
Delayed epiphyseal ossification, Abnormal ilium morphology, Hypoplasia of the odontoid process, R... ORPHA:93314
Achondroplasia
Flat acetabular roof, Cervical spinal canal stenosis, Limited elbow extension, Knee joint hypermo... ORPHA:15
Mesomelic Dwarfism-Cleft Palate-Camptodactyly Syndrome
Abnormal epiphysis morphology, Elbow dislocation, Camptodactyly of finger, Abnormal lung lobation... ORPHA:2631
Platyspondylic Lethal Skeletal Dysplasia, Torrance Type
Radial bowing, Severe limb shortening, Short neck, Flat acetabular roof, Hypoplastic ischia, Ovoi... OMIM:151210
Pseudoachondroplasia
Delayed epiphyseal ossification, Atlantoaxial dislocation, Hypoplasia of the odontoid process, Ra... OMIM:177170
Greenberg Dysplasia
Platyspondyly, Rhizomelia, Abnormal form of the vertebral bodies, Abnormal pelvis bone ossificati... ORPHA:1426
Multiple Epiphyseal Dysplasia Due To Collagen 9 Anomaly
Fragmentation of the metacarpal epiphyses, Arthralgia of the hip, Abnormal epiphysis morphology, ... ORPHA:166002
Multiple Epiphyseal Dysplasia Type 1
Delayed epiphyseal ossification, Arthralgia of the hip, Limitation of joint mobility, Avascular n... ORPHA:93308
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 2
Genu valgum, Carpal bone hypoplasia, Wind-swept deformity of the knees, Long proximal phalanx of ... OMIM:603546
Phocomelia-Ectrodactyly-Deafness-Sinus Arrhythmia Syndrome
Ectrodactyly, Radial club hand, Abnormality of the wrist, Asymmetric radial dysplasia, Ulnar bowi... ORPHA:2878
Diastrophic Dysplasia
Hypoplastic cervical vertebrae, Elbow dislocation, Micrognathia, Bowing of the long bones, Abnorm... ORPHA:628
Lethal Recessive Chondrodysplasia
Micromelia, Micrognathia, Flared elbow metaphyses, Limb undergrowth, Generalized osteosclerosis, ... ORPHA:1423
Spondyloepimetaphyseal Dysplasia, Irapa Type
Platyspondyly, Synostosis of carpal bones, Abnormal epiphysis morphology, Micromelia, Upper limb ... ORPHA:93351
Rhizomelic Chondrodysplasia Punctata
Rhizomelia, Abnormal epiphysis morphology, Limitation of joint mobility, Epiphyseal stippling, Ab... ORPHA:177
Spondylomegaepiphyseal Dysplasia With Upper Limb Mesomelia, Punctate Calcifications, And Deafness
Platyspondyly, Hypoplastic iliac wing, Enlarged epiphyses of the phalanges of the hand, Lumbar hy... OMIM:609616
Intellectual Developmental Disorder With Short Stature And Variable Skeletal Anomalies
Short thumb, Overlapping toe, Camptodactyly, Clinodactyly of the 5th finger, Kyphosis OMIM:618453
Achondrogenesis Type 2
Hypoplastic ilia, Unossified sacrum, Micromelia, Absent vertebral body mineralization, Delayed pu... ORPHA:93296
Hyperphosphatasia With Impaired Intellectual Development Syndrome 6
Osteopenia, Toe syndactyly, Elbow flexion contracture, Death in childhood, Hip contracture, Knee ... OMIM:616809
Rhizomelic Syndrome, Urbach Type
Short distal phalanx of finger, Rhizomelia, Abnormal epiphysis morphology, Abnormal form of the v... ORPHA:3098
Phosphoserine Aminotransferase Deficiency
Cerebellar vermis hypoplasia, Cyanotic episode, Death in infancy OMIM:610992
Weismann-Netter Syndrome
Aplasia/Hypoplasia of the radius, Abnormal form of the vertebral bodies, Abnormal tibia morpholog... ORPHA:3344
Dysplastic Cortical Hyperostosis, Kozlowski-Tsuruta Type
Abnormal cortical bone morphology, Limb undergrowth, Abnormal limb bone morphology, Aplasia/Hypop... ORPHA:2204
Spondylometaphyseal Dysplasia With Corneal Dystrophy
Lumbar platyspondyly, Coarse metaphyseal trabecularization, Thoracic platyspondyly, Death in chil... OMIM:618961
Kyphomelic Dysplasia
Platyspondyly, Limitation of joint mobility, Radial bowing, Flared metaphysis, Micromelia, Dumbbe... OMIM:211350
Acheiropody
Lower limb peromelia, Absent forearm, Short tibia, Absent radius, Fibular aplasia, Absent hand, C... OMIM:200500
Paget Disease Of Bone 5, Juvenile-Onset
Osteopenia, Increased bone mineral density, Recurrent fractures, Short humerus, Lateral femoral b... OMIM:239000
Heart-Hand Syndrome Type 2
Aplasia/Hypoplasia of the radius, Micromelia, Abnormal shoulder morphology, Short 5th metacarpal,... ORPHA:1350
Thoracomelic Dysplasia
Abnormal pelvic girdle bone morphology, Elbow dislocation, Genu valgum, Short ribs, Joint hypermo... ORPHA:1803
Vitamin D-Dependent Rickets, Type 2B, With Normal Vitamin D Receptor
Delayed epiphyseal ossification, Rickets, Bulging epiphyses, Rickets of the lower limbs, Genu val... OMIM:600785
Chondrodysplasia With Joint Dislocations, Gpapp Type
Coronal craniosynostosis, Short toe, Genu valgum, Micrognathia, Limited elbow extension, Interver... OMIM:614078
Neuropathy, Hereditary Sensory And Autonomic, Type Vii
Poor wound healing, Abnormal autonomic nervous system physiology OMIM:615548
Spondyloepimetaphyseal Dysplasia, Shohat Type
Delayed epiphyseal ossification, Abnormal vertebral morphology, Premature osteoarthritis, Squared... ORPHA:93352
Ollier Disease
Platyspondyly, Micromelia, Abnormal cartilage morphology, Joint stiffness, Multiple enchondromato... ORPHA:296
Acheiropodia
Abnormal epiphysis morphology, Fibular aplasia, Absent hand, Short humerus, Upper limb phocomelia... ORPHA:931
Spondylo-Megaepiphyseal-Metaphyseal Dysplasia
Long hallux, Hypoplastic iliac wing, Genu valgum, Delayed pubic bone ossification, Talipes equino... OMIM:613330
Cono-Spondylar Dysplasia
Epiphyseal dysplasia, Kyphosis, Short 4th toe, Short humerus, Short neck, Brachydactyly, Short lo... ORPHA:420794
Ulnar Hemimelia
Abnormal upper limb bone morphology, Hypoplastic scapulae, Short forearm, Radial bowing, Abnormal... ORPHA:93320
Ophthalmomandibulomelic Dysplasia
Mesomelia, Radioulnar dislocation, Aplasia/Hypoplasia of the radius, Synostosis of carpal bones, ... ORPHA:2741
Spondyloepiphyseal Dysplasia, Kondo-Fu Type
Short femoral neck, Brachydactyly, Reduced bone mineral density, Kyphosis, Delayed ossification o... OMIM:618392
Stuve-Wiedemann Syndrome 2
Intrauterine growth retardation, Neonatal death, Bowing of the long bones, Death in adolescence, ... OMIM:619751
Vacterl Association, X-Linked, With Or Without Hydrocephalus
Abnormal vertebral morphology, Abnormality of the vertebral column, Short humerus, Neonatal death... OMIM:314390
Spondyloepimetaphyseal Dysplasia, Borochowitz-Cormier-Daire Type
Platyspondyly, Metaphyseal spurs, Micromelia, Irregular epiphyses, Small epiphyses, Femoral bowin... OMIM:608728
Dysspondyloenchondromatosis
Platyspondyly, Anisospondyly, Multiple enchondromatosis, Genu valgum, Metaphyseal enchondromatosi... ORPHA:85198
Osteomesopyknosis
Sclerotic vertebral body, Abnormal form of the vertebral bodies, Abnormal cortical bone morpholog... ORPHA:2777
Duane-Radial Ray Syndrome
Radial deviation of the hand, Absent thumb, Short thumb, Sandal gap, Shoulder dislocation, Preaxi... OMIM:607323
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Leptodactylic Type
Epiphyseal dysplasia, Delayed epiphyseal ossification, Premature osteoarthritis, Genu valgum, Abn... ORPHA:93360
Autosomal Dominant Omodysplasia
Rhizomelia, Short 1st metacarpal, Elbow dislocation, Micrognathia, Short humerus, Short palm ORPHA:93328
Astley-Kendall Dysplasia
Epiphyseal stippling, Micromelia ORPHA:85175
Spondyloepimetaphyseal Dysplasia, Isidor-Toutain Type
Enlarged metaphyses, Platyspondyly, Lower-limb metaphyseal irregularity, Irregular femoral epiphy... OMIM:618728
Spondyloepimetaphyseal Dysplasia, Shohat Type
Delayed epiphyseal ossification, Platyspondyly, Fibular overgrowth, Micromelia, Short femoral nec... OMIM:602557
Mesomelic Limb Shortening And Bowing
Camptodactyly of finger, Mesomelic leg shortening, Micrognathia, Bowing of the arm, Mesomelic arm... OMIM:249710
Chondrodysplasia, Blomstrand Type
Abnormal vertebral morphology, Micromelia, Flared metaphysis, Stillbirth, Micrognathia, Short rib... OMIM:215045
Trochlea Of The Humerus, Aplasia Of
Short humerus OMIM:191000
Hypochondroplasia
Flared metaphysis, Lumbar hyperlordosis, Trident hand, Limited elbow extension, Aplasia/hypoplasi... OMIM:146000
Ehlers-Danlos Syndrome, Arthrochalasia Type, 1
Osteopenia, Poor wound healing, Contracture of the proximal interphalangeal joint of the 2nd fing... OMIM:130060
Otospondylomegaepiphyseal Dysplasia
Epiphyseal dysplasia, Abnormal vertebral morphology, Limitation of joint mobility, Fibular bowing... ORPHA:1427
Brachyolmia Type 1, Toledo Type
Abnormal odontoid process morphology, Lumbar hyperlordosis, Squared-off platyspondyly, Precocious... OMIM:271630
Fetal Akinesia Deformation Sequence 4
11 pairs of ribs, Micrognathia, Prenatal death, Neonatal death, Short neck, Camptodactyly, Rocker... OMIM:618393
Leri-Weill Dyschondrosteosis
Increased carrying angle, Abnormal femoral neck morphology, Short tibia, Radial bowing, Abnormal ... OMIM:127300
Metaphyseal Dysplasia, Braun-Tinschert Type
Radial bowing, Sclerosis of middle finger phalanx, Broad long bones, Humerus varus, Fibular bowin... ORPHA:85188
Epidermolysis Bullosa With Diaphragmatic Hernia
Neonatal death OMIM:226735
Brachydactyly, Type B1
Joint contracture of the hand, Broad thumb, Hypoplastic sacrum, Cutaneous finger syndactyly, Type... OMIM:113000
Codas Syndrome
Congenital hip dislocation, Absent epiphyses, Hypoplasia of the odontoid process, Scoliosis, Genu... OMIM:600373
Mesomelic Dysplasia, Nievergelt Type
Mesomelia, Aplasia/Hypoplasia of the radius, Limitation of joint mobility, Finger syndactyly, Elb... ORPHA:2633
Desbuquois Dysplasia 1
Radial deviation of the 2nd finger, Broad first metatarsal, Talipes equinovarus, Short neck, Flat... OMIM:251450
Adult-onset autosomal dominant leukodystrophy (ADLD)
Abnormal autonomic nervous system physiology DECIPHER:59
Léri-Weill Dyschondrosteosis
Short tibia, Radial bowing, Elbow dislocation, Abnormal tibia morphology, Genu valgum, Patellar a... ORPHA:240
Spondyloperipheral Dysplasia
Broad thumb, Absent styloid process of ulna, Short neck, Flat acetabular roof, Short distal phala... OMIM:271700
Melnick-Needles Syndrome
Short distal phalanx of finger, Hypoplastic scapulae, Flared metaphysis, Cone-shaped epiphyses of... OMIM:309350
Diaphragmatic Hernia 5, X-Linked
Neonatal death OMIM:306950
Acrocapitofemoral Dysplasia
Cone-shaped metacarpal epiphyses, Cone-shaped epiphysis, Abnormal femoral neck morphology, Microm... ORPHA:63446
Bethlem Myopathy 2
Hip dislocation, Scapular winging, Distal joint hypermobility, Scoliosis, Kyphosis, Flexion contr... OMIM:616471
Spondylometaphyseal Dysplasia, X-Linked
Platyspondyly, Short finger, Hyperextensibility of the finger joints, Sclerosis of skull base, Hi... OMIM:313420
Short-Rib Thoracic Dysplasia 2 With Or Without Polydactyly
Rhizomelia, Brachydactyly, Broad palm, Postaxial hand polydactyly, Short foot, Short metacarpal, ... OMIM:611263
Spondyloepimetaphyseal Dysplasia, Matrilin-3 Type
Lumbar hyperlordosis, Limb undergrowth, Limited elbow extension, Bowing of the legs ORPHA:156728
Osebold-Remondini Syndrome
Mesomelia, Radial deviation of finger, Short tibia, Short toe, Type A brachydactyly, Carpal synos... OMIM:112910
Spondylometaphyseal Dysplasia, A4 Type
Platyspondyly, Limitation of joint mobility, Micromelia, Coxa vara, Short palm ORPHA:168555
Heart Defects-Limb Shortening Syndrome
Abnormal form of the vertebral bodies, Mesomelic/rhizomelic limb shortening, Death in infancy, Ab... ORPHA:1354
Spastic Paraplegia 18B, Autosomal Recessive
Scoliosis, Kyphosis, Joint contracture OMIM:611225
Multiple Epiphyseal Dysplasia, Beighton Type
Limitation of joint mobility, Genu valgum, Intervertebral space narrowing, Reduced proximal inter... ORPHA:166011
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia
Platyspondyly, Metaphyseal cupping of metacarpals, Metaphyseal cupping, Rhizomelia, Distal shorte... OMIM:300863
Atelosteogenesis Type Iii
Thoracolumbar kyphosis, Hand clenching, Absent humerus, Short tibia, Elbow dislocation, Short tub... ORPHA:56305
Symbrachydactyly Of Hands And Feet
Aplasia/Hypoplasia of the radius, Abnormality of the humeroulnar joint, Vertebral segmentation de... ORPHA:1570
Congenital Disorder Of Glycosylation, Type Ig
Rhizomelia, Recurrent upper respiratory tract infections, Recurrent pneumonia, Sandal gap, Short ... OMIM:607143
Cryptorchidism-Arachnodactyly-Intellectual Disability Syndrome
Joint stiffness, Bilateral single transverse palmar creases, Arachnodactyly, Aplasia/Hypoplasia o... ORPHA:1548
Spondyloepimetaphyseal Dysplasia Congenita, Strudwick Type
Aplasia/hypoplasia involving bones of the extremities, Abnormal vertebral morphology, Platyspondy... ORPHA:93346
Ruvalcaba Syndrome
Small hand, Kyphosis, Micromelia, Limited elbow extension, Short foot, Short metatarsal, Short ph... OMIM:180870
Odontochondrodysplasia
Platyspondyly, Cone-shaped epiphysis, Square pelvis bone, Micromelia, Death in infancy, Joint hyp... ORPHA:166272
Ciliary Dyskinesia, Primary, 29
Recurrent respiratory infections, Decreased circulating antibody level, Bronchiectasis, Atelectasis OMIM:615872
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 8
Arthrogryposis multiplex congenita, Elbow flexion contracture, Hip contracture, Knee flexion cont... OMIM:600175
Autosomal Recessive Omodysplasia
Rhizomelia, Elbow dislocation, Micromelia, Abnormal femur morphology, Micrognathia, Abnormal morp... ORPHA:93329
Fibular Aplasia-Complex Brachydactyly Syndrome
Abnormal epiphysis morphology, Synostosis of carpal bones, Micromelia, Limitation of joint mobili... ORPHA:2639
Spondyloepiphyseal Dysplasia Congenita
Dysplasia of the femoral head, Genu valgum, Micrognathia, Limited elbow movement, Short neck, Fla... ORPHA:94068
Schneckenbecken Dysplasia
Platyspondyly, Hypoplastic scapulae, Stillbirth, Advanced tarsal ossification, Short ribs, Narrow... OMIM:269250
Fibular Hemimelia
Toe syndactyly, Limitation of joint mobility, Finger syndactyly, Short tibia, Limited knee flexio... ORPHA:93323
Spondylocostal Dysostosis 3, Autosomal Recessive
Slender finger, Hypoplasia of the odontoid process, Contracture of the proximal interphalangeal j... OMIM:609813
Retinitis Pigmentosa, X-Linked, And Sinorespiratory Infections With Or Without Deafness
Recurrent Haemophilus influenzae infections, Recurrent bronchitis, Atelectasis OMIM:300455
Spondyloepiphyseal Dysplasia, Kimberley Type
Platyspondyly, Abnormal epiphysis morphology, Micromelia, Osteoarthritis ORPHA:93283
Hall-Riggs Syndrome
Platyspondyly, Intrauterine growth retardation, Brachydactyly, Metaphyseal dysplasia, Osteoporosi... OMIM:234250
Kyphomelic Dysplasia
Limitation of joint mobility, Micromelia, Abnormal form of the vertebral bodies, Joint stiffness,... ORPHA:1801
Rhizomelic Skeletal Dysplasia With Or Without Pelger-Huet Anomaly
Radial bowing, Genu valgum, Thoracolumbar scoliosis, Metaphyseal dysplasia, Ovoid vertebral bodie... OMIM:618019
Microcephalic Osteodysplastic Primordial Dwarfism, Type I
Delayed epiphyseal ossification, Enlarged metaphyses, Elbow dislocation, Micrognathia, Death in c... OMIM:210710
Weismann-Netter Syndrome
Fibular bowing, Lateral femoral bowing, Horizontal sacrum, Calvarial hyperostosis, Squared iliac ... OMIM:112350
Smith-Mccort Dysplasia 1
Platyspondyly, Hypoplastic scapulae, Hypoplastic acetabulae, Hypoplasia of the odontoid process, ... OMIM:607326
Zimmermann-Laband Syndrome 3
Short distal phalanx of finger, Aplasia of the distal phalanx of the 5th toe, Kyphosis, Clinodact... OMIM:618658
Ciliary Dyskinesia, Primary, 33
Recurrent pneumonia, Atelectasis, Recurrent otitis media, Recurrent bronchitis, Recurrent lower r... OMIM:616726
Seizures, Benign Familial Infantile, 3
Cyanosis OMIM:607745
Acromesomelic Dysplasia, Hunter-Thompson Type
Acromesomelia, Abnormal pelvic girdle bone morphology, Hip dislocation, Short thumb, Elbow disloc... ORPHA:968
Acromesomelic Dysplasia, Grebe Type
Synostosis of carpal bones, Short tibia, Short toe, Aplasia of the middle phalanges of the toes, ... ORPHA:2098
Acro-Renal-Ocular Syndrome
Short distal phalanx of the thumb, Toe syndactyly, Finger syndactyly, Aplasia/Hypoplasia of the r... ORPHA:959
Cyanosis, Transient Neonatal
Jaundice, Cyanosis OMIM:613977
Intellectual Developmental Disorder, X-Linked, Syndromic, Stocco Dos Santos Type
Small hand, Hip dislocation, Talipes equinovarus, Short foot, Scoliosis, Kyphosis OMIM:300434
Atelosteogenesis Type Ii
Hypoplastic cervical vertebrae, Elbow dislocation, Genu valgum, Micrognathia, Short neck, Broad p... ORPHA:56304
Langer Mesomelic Dysplasia
Ulnar deviation of finger, Abnormal epiphysis morphology, Micromelia, Aplasia/Hypoplasia of the f... ORPHA:2632
Axial Spondylometaphyseal Dysplasia
Abnormal ilium morphology, Hypoplastic iliac wing, Abnormal metacarpal morphology, Flat acetabula... ORPHA:168549
Short Stature, Amelogenesis Imperfecta, And Skeletal Dysplasia With Scoliosis
Scoliosis, Microretrognathia, Small epiphyses, Genu valgum, Micrognathia, Hip contracture, Kyphos... OMIM:618363
Congenital Arthrogryposis With Anterior Horn Cell Disease
Hand clenching, Arthrogryposis multiplex congenita, Micrognathia, Single transverse palmar crease... OMIM:611890
Progressive Pseudorheumatoid Dysplasia
Platyspondyly, Joint contracture of the hand, Camptodactyly of finger, Sclerotic vertebral endpla... OMIM:208230
Osteogenesis Imperfecta, Type Xvi
Platyspondyly, Osteopenia, Rhizomelia, Microretrognathia, Bruising susceptibility, Decreased calv... OMIM:616229
Kniest Dysplasia
Delayed epiphyseal ossification, Platyspondyly, Rhizomelia, Dumbbell-shaped femur, Limitation of ... OMIM:156550
Cryofibrinogenemia, Familial Primary
Acrocyanosis OMIM:123540
Ciliary Dyskinesia, Primary, 21
Recurrent otitis media, Recurrent pneumonia, Bronchiectasis, Atelectasis OMIM:615294
Thrombocytopenia-Absent Radius Syndrome
Broad thumb, Finger syndactyly, Tibial torsion, Fibular aplasia, Micrognathia, Aplasia/hypoplasia... ORPHA:3320
X-Linked Intellectual Disability, Stocco Dos Santos Type
Congenital bilateral hip dislocation, Talipes equinovarus, Kyphosis, Recurrent respiratory infect... ORPHA:85288
Bruck Syndrome 1
Platyspondyly, Ankle flexion contracture, Vertebral wedging, Elbow flexion contracture, Increased... OMIM:259450
Omodysplasia 1
Rhizomelia, Short tibia, Limited knee flexion/extension, Limited elbow flexion, Limited hip movem... OMIM:258315
Scheuermann Disease
Kyphosis, Morbus Scheuermann OMIM:181440
Lethal Short-Limb Skeletal Dysplasia, Al Gazali Type
Platyspondyly, Shortening of all phalanges of fingers, Limb undergrowth, Shortening of all metaca... OMIM:601356
Idiopathic Bronchiectasis
Emphysema, Respiratory tract infection, Recurrent Haemophilus influenzae infections, Acute infect... ORPHA:60033
Breath-Holding Spells
Cyanosis OMIM:607578
Seizures, Benign Familial Infantile, 1
Cyanosis OMIM:601764
Intellectual Developmental Disorder, X-Linked 82
Scoliosis, Kyphosis OMIM:300518
Langer Mesomelic Dysplasia
Increased carrying angle, Short tibia, Radial bowing, Rudimentary fibula, Rhizomelic arm shorteni... OMIM:249700
Baller-Gerold Syndrome
Abnormal vertebral morphology, Lambdoidal craniosynostosis, Erythema, Carpal synostosis, Microgna... OMIM:218600
Acrocephalopolydactyly
Short neck, Limb undergrowth, Brachydactyly, Short long bone ORPHA:221054
Cranioectodermal Dysplasia 1
Short distal phalanx of finger, Rhizomelia, Short toe, Clinodactyly, Radial deviation of finger, ... OMIM:218330
Brachydactyly-Mesomelia-Intellectual Disability-Heart Defects Syndrome
Abnormal shoulder morphology, Micrognathia, Brachydactyly, Mesomelia ORPHA:1277
Mesomelic Dysplasia, Kantaputra Type
Ulnar deviation of finger, Synostosis of carpal bones, Camptodactyly of finger, Dumbbell-shaped h... ORPHA:1836
Greenberg Dysplasia
Fractured rib, Postaxial foot polydactyly, Supernumerary vertebral ossification centers, Microgna... OMIM:215140
Acromicric Dysplasia
Cone-shaped epiphysis, Fifth metacarpal with ulnar notch, Ovoid vertebral bodies, Short long bone... OMIM:102370
Thanatophoric Dysplasia Type 1
Platyspondyly, Hypoplastic ilia, Micromelia, Joint stiffness, Femoral bowing, Excessive wrinkled ... ORPHA:1860
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type
Delayed epiphyseal ossification, Metaphyseal cupping, Micromelia, Wide distal femoral metaphysis,... OMIM:613320
Spondylometaphyseal Dysplasia, Kozlowski Type
Platyspondyly, Hypoplasia of the odontoid process, Dumbbell-shaped femur, Flared metaphysis, Irre... OMIM:184252
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type
Platyspondyly, Osteopenia, Pulmonary hypoplasia, Flared metaphysis, Decreased fibular diameter, I... OMIM:616897
Osteogenesis Imperfecta, Type Ix
Platyspondyly, Recurrent fractures, Bowing of limbs due to multiple fractures, Decreased calvaria... OMIM:259440
Atelosteogenesis Type I
Platyspondyly, Rhizomelia, Pulmonary hypoplasia, Absent or minimally ossified vertebral bodies, M... ORPHA:1190
Coxoauricular Syndrome
Abnormal pelvic girdle bone morphology, Micromelia, Abnormal femur morphology, Reduced bone miner... ORPHA:1508
Multiple Osteochondromas
Limitation of joint mobility, Abnormal tibia morphology, Abnormal hand morphology, Limited hip mo... ORPHA:321
Leukodystrophy, Hypomyelinating, 26, With Chondrodysplasia
Hypoplastic cervical vertebrae, Elbow dislocation, Small epiphyses, Joint hypermobility, Lumbar s... OMIM:620269
Ulna Hypoplasia-Intellectual Disability Syndrome
Mesomelia, Ulnar deviation of finger, Broad thumb, Micromelia, Elbow dislocation, Joint stiffness... ORPHA:2249
Osteogenesis Imperfecta, Type Iii
Slender long bone, Protrusio acetabuli, Micrognathia, Bowing of limbs due to multiple fractures, ... OMIM:259420
Dyggve-Melchior-Clausen Disease
Hypoplastic scapulae, Hypoplasia of the odontoid process, Limitation of joint mobility, Hypoplast... OMIM:223800
Solitary Bone Cyst
Abnormal ilium morphology, Abnormal form of the vertebral bodies, Abnormal tibia morphology, Lyti... ORPHA:83468
Terminal Osseous Dysplasia
Toe clinodactyly, Short toe, Clinodactyly, Camptodactyly of finger, Mesomelic leg shortening, Mul... OMIM:300244
Occipital Horn Syndrome
Platyspondyly, Bruising susceptibility, Genu valgum, Limited elbow extension, Short humerus, Join... OMIM:304150
Acromesomelic Dysplasia 1
Radial bowing, Long hallux, Beaking of vertebral bodies, Broad phalanx, Cone-shaped epiphyses of ... OMIM:602875
Achondrogenesis Type 1A
Micromelia, Abnormal enchondral ossification, Micrognathia, Short neck, Aplasia/Hypoplasia of the... ORPHA:93299
Metaphyseal Anadysplasia 2
Micromelia, Short femoral neck, Metaphyseal widening, Metaphyseal irregularity, Genu varum, Bowin... OMIM:613073
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2A, Childhood Onset, Autosomal Dominant
Hip contracture, Knee flexion contracture, Talipes equinovarus, Achilles tendon contracture, Hype... OMIM:615290
Ullrich Congenital Muscular Dystrophy
Slender finger, Kyphosis, Elbow flexion contracture, Wrist hypermobility, Increased laxity of fin... ORPHA:75840
Mucopolysaccharidosis, Type Iva
Constricted iliac wing, Hypoplasia of the odontoid process, Genu valgum, Short neck, Anterior bea... OMIM:253000
Acrodysostosis
Bowing of the long bones, Abnormal metacarpal morphology, Abnormal morphology of the radius, Shor... ORPHA:950
Schwartz-Jampel Syndrome, Type 1
Joint contracture of the hand, Micrognathia, Hip contracture, Bowing of the long bones, Talipes e... OMIM:255800
Ck Syndrome
Micrognathia, Abnormal cortical bone morphology, Abnormal digit morphology, Joint hypermobility, ... OMIM:300831
Dyssegmental Dysplasia, Silverman-Handmaker Type
Hypoplastic ilia, Anisospondyly, Pulmonary hypoplasia, Limitation of joint mobility, Micromelia, ... ORPHA:1865
Urban-Rogers-Meyer Syndrome
Toe syndactyly, Abnormal epiphysis morphology, Abnormal diaphysis morphology, Camptodactyly of fi... ORPHA:3409
Spondyloepiphyseal Dysplasia Tarda, X-Linked
Platyspondyly, Hip osteoarthritis, Hump-shaped mound of bone in central and posterior portions of... OMIM:313400
Myopathic Ehlers-Danlos Syndrome
Joint contracture of the hand, Poor wound healing, Micrognathia, Talipes equinovarus, Ankle flexi... ORPHA:536516
Phosphoserine Aminotransferase Deficiency, Infantile/Juvenile Form
Ankle flexion contracture, Intrauterine growth retardation, Micrognathia, Knee flexion contractur... ORPHA:284417
Thanatophoric Dysplasia
Platyspondyly, Abnormal ilium morphology, Micromelia, Intrauterine growth retardation, Joint stif... ORPHA:2655
Spondyloepimetaphyseal Dysplasia, Guo-Campeau Type
Clinodactyly of the 2nd finger, Micrognathia, Diaphyseal undertubulation, Finger joint hypermobil... OMIM:620663
Holt-Oram Syndrome
Hypoplastic scapulae, Short forearm, Radial bowing, Elbow dislocation, Micrognathia, Ulnar deviat... OMIM:142900
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 3
Platyspondyly, Osteopenia, Joint contracture of the hand, Broad femoral neck, Bruising susceptibi... OMIM:612350
Kniest Dysplasia
Delayed epiphyseal ossification, Enlarged metaphyses, Hypoplasia of the odontoid process, Aplasia... ORPHA:485
Congenital Lobar Emphysema
Emphysema ORPHA:1928
Bruck Syndrome
Platyspondyly, Arthrogryposis multiplex congenita, Joint stiffness, Recurrent fractures, Bowing o... ORPHA:2771
Neuralgic Amyotrophy
Acrocyanosis, Upper limb amyotrophy, Scapular winging, Syndactyly ORPHA:2901
Idiopathic Pulmonary Fibrosis
Reticular pattern on pulmonary HRCT, Usual interstitial pneumonia, Honeycomb lung, Pulmonary fibr... ORPHA:2032
Achondrogenesis, Type Ib
Hypoplastic ilia, Micromelia, Absent or minimally ossified vertebral bodies, Short ribs, Stillbirth OMIM:600972
Achondrogenesis Type 1B
Micromelia, Abnormal enchondral ossification, Micrognathia, Talipes equinovarus, Short neck, Apla... ORPHA:93298
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2B, Prenatal Onset, Autosomal Dominant
Congenital hip dislocation, Hand clenching, Kyphosis, Arthrogryposis multiplex congenita, Overlap... OMIM:618291
Femoral-Facial Syndrome
Toe syndactyly, Micrognathia, Humeroradial synostosis, Limited elbow movement, Radioulnar synosto... OMIM:134780
Catel-Manzke Syndrome
Hyperphalangy of the 2nd finger, Short toe, Ulnar deviation of the 2nd finger, Intrauterine growt... OMIM:616145
Surfactant Metabolism Dysfunction, Pulmonary, 3
Crazy paving pattern, Reticular pattern on pulmonary HRCT, Usual interstitial pneumonia, Intraalv... OMIM:610921
Verloove Vanhorick-Brubakk Syndrome
Abnormal pelvic girdle bone morphology, Finger syndactyly, Abnormal form of the vertebral bodies,... ORPHA:3429
Osteogenesis Imperfecta, Type Viii
Platyspondyly, Osteopenia, Kyphosis, Slender long bone, Radial bowing, Femoral bowing, Recurrent ... OMIM:610915
Hypophosphatemic Rickets, X-Linked Dominant
Shortening of the talar neck, Abnormal pelvic girdle bone morphology, Rickets, Spinal canal steno... OMIM:307800
Borjeson-Forssman-Lehmann Syndrome
Shortening of all middle phalanges of the fingers, Short toe, Widely spaced toes, Cervical spinal... OMIM:301900
Hypocalcemic Vitamin D-Resistant Rickets
Coarse metaphyseal trabecularization, Abnormal form of the vertebral bodies, Osteomalacia, Osteol... ORPHA:93160
Dyggve-Melchior-Clausen Disease
Epiphyseal dysplasia, Hypoplasia of the odontoid process, Genu valgum, Short neck, Beaking of ver... ORPHA:239
Holt-Oram Syndrome
Broad thumb, Aplasia/Hypoplasia of the radius, Finger syndactyly, Absent thumb, Kyphosis, Joint s... ORPHA:392
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia
Broad thumb, Toe syndactyly, Shallow acetabular fossae, Hypoplastic iliac wing, Micrognathia, Tal... OMIM:609945
Spondyloepimetaphyseal Dysplasia, Aggrecan Type
Platyspondyly, Rhizomelia, Broad thumb, Short finger, Irregular epiphyses, Lumbar hyperlordosis, ... OMIM:612813
Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome
Intrauterine growth retardation, Micrognathia, Abnormality of the cervical spine, Finger joint co... ORPHA:48431
Waardenburg Syndrome Type 3
Synostosis of carpal bones, Tracheomalacia, Atelectasis, Camptodactyly of finger, Cutaneous finge... ORPHA:896
Alpha-Mannosidosis
Synostosis of joints, Craniofacial hyperostosis, Generalized abnormality of skin, Bowing of the l... ORPHA:61
3M Syndrome
Congenital hip dislocation, Rocker bottom foot, Scoliosis, Slender long bone, Micromelia, Intraut... ORPHA:2616
Ulbright-Hodes Syndrome
Pulmonary hypoplasia, Abnormal forearm bone morphology, Fibular aplasia, Micrognathia, Humeroradi... ORPHA:3404
Progressive Spondyloepimetaphyseal Dysplasia-Short Stature-Short Fourth Metatarsals-Intellectual Disability Syndrome
Overlapping toe, Genu valgum, Carpal bone hypoplasia, Short neck, Beaking of vertebral bodies, Th... ORPHA:457395
Ulnar Hypoplasia
Radial bowing, Radial dysplasia, Hypoplasia of the ulna, Hypoplasia of the radius, Ulnar deviatio... OMIM:191440
Bone Dysplasia, Lethal Holmgren Type
Rhizomelia, Abnormal epiphysis morphology, Micromelia, Abnormal diaphysis morphology, Abnormal fe... ORPHA:1842
Microcephaly-Micromelia Syndrome
Absent thumb, Short tibia, Micromelia, Oligodactyly, Intrauterine growth retardation, Micrognathi... OMIM:251230
Acromesomelic Dysplasia 2C
Acromesomelia, Shortening of all middle phalanges of the fingers, Short tibia, Short thumb, Radia... OMIM:201250
Myasthenic Syndrome, Congenital, 25, Presynaptic
Joint hypermobility, Flexion contracture, Scoliosis, Kyphosis, Spinal rigidity OMIM:618323
Arthrogryposis, Distal, Type 4
Osteopenia, Kyphosis, Camptodactyly of 2nd-5th fingers, Deviation of the 2nd toe, Fibular deviati... OMIM:609128
Ruvalcaba Syndrome
Small hand, Cone-shaped epiphysis, Synostosis of carpal bones, Kyphosis, Micromelia, Abnormal ver... ORPHA:3121
Mitchell Syndrome
Abnormal autonomic nervous system physiology OMIM:618960
Asbestos Intoxication
Abnormal pulmonary interstitial morphology, Atelectasis, Interlobular septal thickening, Oxygen d... ORPHA:2302
Beta-Propeller Protein-Associated Neurodegeneration
Optic atrophy, Cerebellar atrophy, Abnormal autonomic nervous system physiology, Iron accumulatio... ORPHA:329284
Thalidomide Embryopathy
Preaxial hand polydactyly, Radial club hand, Aplasia/hypoplasia of the humerus, Aplasia/Hypoplasi... ORPHA:3312
Osteogenesis Imperfecta, Type Ii
Platyspondyly, Abnormal pelvic girdle bone morphology, Broad long bones, Tibial bowing, Limb unde... OMIM:166210
Otospondylomegaepiphyseal Dysplasia, Autosomal Recessive
Epiphyseal dysplasia, Platyspondyly, Aplasia/Hypoplasia of the capital femoral epiphysis, Recurre... OMIM:215150
Vitamin D Hydroxylation-Deficient Rickets, Type 1B
Delayed epiphyseal ossification, Rickets, Bulging epiphyses, Enlargement of the wrists, Fibular b... OMIM:600081
Laron Syndrome
Limb undergrowth, Short long bone OMIM:262500
Lethal Kniest-Like Dysplasia
Platyspondyly, Hypoplastic ilia, Flared metaphysis, Broad long bones, Abnormal cartilage morpholo... ORPHA:2347
Brachydactyly-Elbow Wrist Dysplasia Syndrome
Aplasia/Hypoplasia of the radius, Synostosis of carpal bones, Elbow dislocation, Abnormal distal ... ORPHA:1275
Ulnar-Mammary Syndrome
Short 5th finger, Hypoplastic scapulae, Aplasia of the 3rd finger, Short 5th toe, Short 4th toe, ... OMIM:181450
Neutropenia, Lethal Congenital, With Eosinophilia
Neonatal death OMIM:257100
Occipital Horn Syndrome
Synostosis of joints, Osteomalacia, Humerus varus, Genu valgum, Abnormal fibula morphology, Short... ORPHA:198
Ophthalmomandibulomelic Dysplasia
Radioulnar dislocation, Lateral humeral condyle aplasia, Radial bowing, Elbow dislocation, Decrea... OMIM:164900
Bent Bone Dysplasia Syndrome 2
Platyspondyly, Osteopenia, Hypoplastic acetabulae, Short 1st metacarpal, Short tibia, Hypoplastic... OMIM:620076
Spondylometaphyseal Dysplasia, Algerian Type
Platyspondyly, Hypoplasia of proximal radius, Short tubular bones of the hand, Flared femoral met... OMIM:184253
Spondylometaphyseal Dysplasia, 'Corner Fracture' Type
Abnormal vertebral morphology, Limitation of joint mobility, Clinodactyly, Hypoplastic iliac wing... ORPHA:93315
Hypophosphatasia, Infantile
Platyspondyly, Unossified vertebral bodies, Metaphyseal cupping, Micromelia, Increased susceptibi... OMIM:241500
Spondyloepiphyseal Dysplasia-Brachydactyly And Distinctive Speech
Delayed epiphyseal ossification, Hypoplastic iliac wing, Carpal bone hypoplasia, Short neck, Shor... OMIM:611717
Spondyloepimetaphyseal Dysplasia, Sponastrime Type
Genu valgum, Narrow vertebral interpedicular distance, Lumbar interpedicular narrowing, Genu varu... OMIM:271510
Dermatosparaxis Ehlers-Danlos Syndrome
Osteopenia, Rickets, Abnormality of subcutaneous fat tissue, Osteomalacia, Avascular necrosis of ... ORPHA:1901
Spondylometaphyseal Dysplasia, Schmidt Type
Platyspondyly, Abnormal ilium morphology, Irregular iliac crest, Scoliosis, Short iliac bones, Ab... ORPHA:93316
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 3
Death in infancy, Vertebral segmentation defect, Talipes equinovarus, Short long bone, Vertebral ... OMIM:618845
Achondrogenesis
Abnormal enchondral ossification, Micromelia, Micrognathia, Short neck, Aplasia/Hypoplasia of the... ORPHA:932
Myxopapillary Ependymoma
Autonomic bladder dysfunction ORPHA:251643
Anauxetic Dysplasia 1
Atlantoaxial dislocation, Hip contracture, Short neck, Short foot, Hypoplastic ilia, Short toe, S... OMIM:607095
Metaphyseal Dysostosis, Impaired Intellectual Development, And Conductive Deafness
Genu valgum, Carpal bone hypoplasia, Broad phalanx, Metaphyseal dysplasia, Short foot, Genu varum... OMIM:250420
Spondyloepimetaphyseal Dysplasia, X-Linked
Hypoplasia of the odontoid process, Broad long bones, Broad phalanx, Flat acetabular roof, Short ... OMIM:300106
Jeune Syndrome
Abnormal pelvic girdle bone morphology, Toe syndactyly, Postaxial foot polydactyly, Cone-shaped e... ORPHA:474
Ciliary Dyskinesia, Primary, 47, And Lissencephaly
Recurrent respiratory infections, Bronchiectasis, Atelectasis OMIM:619466
Osteogenesis Imperfecta, Type X
Platyspondyly, Osteopenia, Rhizomelia, Recurrent pneumonia, Micromelia, Genu valgum, Fibular bowi... OMIM:613848
Mitochondrial Complex I Deficiency, Nuclear Type 15
Intrauterine growth retardation, Flexion contracture, Kyphosis, Neonatal death OMIM:618237
Mucopolysaccharidosis, Type Ivb
Constricted iliac wing, Hypoplasia of the odontoid process, Genu valgum, Bilateral talipes equino... OMIM:253010
Reducing Body Myopathy, X-Linked 1B, With Late Childhood Or Adult Onset
Short neck, Hyperlordosis, Flexion contracture, Scoliosis, Kyphosis, Spinal rigidity OMIM:300718
Spondylometaepiphyseal Dysplasia, Short Limb-Hand Type
Hypoplasia of the odontoid process, Broad long bones, Micrognathia, Short neck, Broad phalanx, Sh... OMIM:271665
Craniosynostosis, Herrmann-Opitz Type
Micromelia, Finger syndactyly, Intrauterine growth retardation, Micrognathia, Brachydactyly, Spli... ORPHA:2145
Gillessen-Kaesbach-Nishimura Syndrome
Abnormal lung lobation, Micrognathia, Decreased skull ossification, Narrow greater sciatic notch,... OMIM:263210
Mesomelia-Synostoses Syndrome
Synostosis of joints, Ulnar deviation of finger, Synostosis of carpal bones, Micromelia, Abnormal... ORPHA:2496
Hypophosphatemic Rickets, X-Linked Recessive
Delayed epiphyseal ossification, Rickets, Bulging epiphyses, Osteomalacia, Enlargement of the wri... OMIM:300554
Choanal Atresia
Tracheomalacia, Cyanosis, Polydactyly, Craniosynostosis, Recurrent respiratory infections ORPHA:137914
Cardiomyopathy-Hypotonia-Lactic Acidosis Syndrome
Cyanosis ORPHA:91130
Intellectual Disability-Developmental Delay-Contractures Syndrome
Limitation of joint mobility, Kyphosis, Clinodactyly of the 5th finger, Scoliosis, Congenital foo... ORPHA:3454
Lissencephaly Type 3-Metacarpal Bone Dysplasia Syndrome
Short distal phalanx of finger, Intrauterine growth retardation, Epiphyseal stippling, Talipes eq... ORPHA:86822
Short-Rib Thoracic Dysplasia 21 Without Polydactyly
Trident pelvis, Short humerus, Bowed humerus, Brachydactyly, Short long bone, Flexion contracture OMIM:619479
Obesity Due To Sim1 Deficiency
Postural hypotension with compensatory tachycardia, Abnormal autonomic nervous system physiology ORPHA:369873
Achondrogenesis, Type Ia
Unossified vertebral bodies, Hypoplastic scapulae, Pulmonary hypoplasia, Abnormal femoral metaphy... OMIM:200600
Thanatophoric Dysplasia, Type Ii
Small abnormally formed scapulae, Hypoplastic ilia, Platyspondyly, Micromelia, Flared metaphysis,... OMIM:187601
Restrictive Dermopathy 2
Microretrognathia, Overtubulated long bones, Intrauterine growth retardation, Cyanosis, Short cla... OMIM:619793
Primary Pulmonary Hypoplasia
Abnormal pulmonary artery morphology, Patellar hypoplasia, Intrauterine growth retardation, Micro... ORPHA:2257
Epilepsy, Familial Focal, With Variable Foci 4
Abnormal autonomic nervous system physiology OMIM:617935
Sponastrime Dysplasia
Delayed epiphyseal ossification, Shallow acetabular fossae, Genu valgum, Short palm, Short foot, ... ORPHA:93357
Mesomelic Dysplasia, Savarirayan Type
High iliac wing, Elbow dislocation, Hypoplasia of proximal radius, Fibular aplasia, Glenoid fossa... ORPHA:85170
Mhc Class I Deficiency 1
Emphysema, Bronchiectasis, Bronchiolitis, Recurrent bronchitis OMIM:604571
Tetrasomy 5P
Overlapping toe, Micrognathia, Cyanosis, Talipes equinovarus, Short neck, Short hallux, Long fing... ORPHA:3309
Spastic Paraplegia And Psychomotor Retardation With Or Without Seizures
Hip dislocation, Lumbar hyperlordosis, Talipes equinovarus, Scoliosis, Kyphosis OMIM:616756
Antenatal Multiminicore Disease With Arthrogryposis Multiplex Congenita
Arthrogryposis multiplex congenita, Clinodactyly, Single transverse palmar crease, Short neck, Fl... ORPHA:178148
Arthrogryposis Multiplex Congenita 3, Myogenic Type
Arthrogryposis multiplex congenita, Kyphoscoliosis, Talipes equinovarus, Flexion contracture of f... OMIM:618484
Microcephaly, Short Stature, And Limb Abnormalities
Patellar hypoplasia, 11 pairs of ribs, Intrauterine growth retardation, Patellar aplasia, Radioul... OMIM:617604
ERI1-related disease
Platyspondyly, Osteopenia, Slender metacarpals, Oligodactyly, Intrauterine growth retardation, Cl... OMIM:608739
Caribbean Parkinsonism
Autonomic bladder dysfunction, Orthostatic hypotension, Abnormal autonomic nervous system physiology ORPHA:97355
Mesomelic Dwarfism, Reinhardt-Pfeiffer Type
Ulnar deviation of finger, Synostosis of carpal bones, Micromelia, Elbow dislocation, Abnormal ti... ORPHA:2634
Dyssegmental Dysplasia, Rolland-Desbuquois Type
Joint contracture of the hand, Limitation of joint mobility, Micromelia, Broad long bones, Microg... OMIM:224400
Horizontal Gaze Palsy With Progressive Scoliosis
Short neck, Scoliosis, Kyphosis ORPHA:2744
Acromesomelic Dysplasia 3
Aplasia of the proximal phalanx of the 2nd finger, Widened proximal tibial metaphyses, Short 1st ... OMIM:609441
Charcot-Marie-Tooth Disease, Axonal, Autosomal Recessive, Type 2A2B
Talipes equinovarus, Scoliosis, Kyphosis, Upper limb amyotrophy OMIM:617087
T-Cell Immunodeficiency With Thymic Aplasia
Recurrent pneumonia, Recurrent viral infections, Emphysema, Pyoderma, Reduced delayed hypersensit... OMIM:242700
Hypophosphatemic Rickets With Hypercalciuria, Hereditary
Delayed epiphyseal ossification, Rickets, Bulging epiphyses, Enlargement of the wrists, Fibular b... OMIM:241530
Fountain Syndrome
Short distal phalanx of finger, Craniofacial hyperostosis, Erythema, Coarse metaphyseal trabecula... ORPHA:3219
Microcephalic Primordial Dwarfism, Montreal Type
Premature graying of hair, Prematurely aged appearance, Micrognathia, Vertebral segmentation defe... ORPHA:2617
Surfactant Metabolism Dysfunction, Pulmonary, 1
Absent bronchoalveolar dimeric surfactant-protein B, Intraalveolar phospholipid accumulation, Int... OMIM:265120
Meckel Syndrome 14
Pulmonary hypoplasia, Postaxial foot polydactyly, Microretrognathia, Micrognathia, Cyanosis, Decr... OMIM:619879
Skeletal Dysplasia, Mild, With Joint Laxity And Advanced Bone Age
Microretrognathia, Clinodactyly of the 2nd finger, Micromelia, Monkey wrench femoral neck, Genu v... OMIM:618870
Platyspondylic Dysplasia, Torrance Type
Platyspondyly, Short distal phalanx of finger, Hypoplastic scapulae, Metaphyseal cupping, Microme... ORPHA:85166
Acromesomelic Dysplasia 4
Radial bowing, Prominent deltoid tuberosities, Genu valgum, Beaking of vertebral bodies, Broad to... OMIM:619636
Skeletal Dysplasia-Epilepsy-Short Stature Syndrome
Short distal phalanx of finger, Hypoplastic iliac wing, Brachydactyly, Hip dysplasia, Scoliosis, ... ORPHA:1858
Chondrodysplasia-Difference Of Sex Development Syndrome
Abnormal pelvic girdle bone morphology, Micromelia, Increased skull ossification, Broad long bone... ORPHA:1422
Fibrochondrogenesis 1
Hypoplastic scapulae, Small hand, Joint contracture of the hand, Broad long bones, Short neck, Br... OMIM:228520
Surfactant Metabolism Dysfunction, Pulmonary, 2
Intralobular septal thickening, Bronchiectasis, Spontaneous pneumothorax, Recurrent pneumonia, In... OMIM:610913
Symptomatic Form Of Coffin-Lowry Syndrome In Female Carriers
Scoliosis, Kyphosis, Large hands, Tapered finger ORPHA:276630
Spinocerebellar Ataxia, Autosomal Recessive 8
Optic atrophy, Cerebellar atrophy, Abnormal autonomic nervous system physiology OMIM:610743
Infantile Systemic Hyalinosis
Osteopenia, Micromelia, Camptodactyly of finger, Osteomalacia, Joint stiffness, Increased suscept... ORPHA:2176
Short-Rib Thoracic Dysplasia 18 With Polydactyly
Platyspondyly, Radial bowing, Vertebral wedging, Preaxial polydactyly, Micromelia, Micrognathia, ... OMIM:617866
Hypophosphatemic Bone Disease
Osteomalacia, Rickets, Bowing of the legs OMIM:146350
Frank-Ter Haar Syndrome
Camptodactyly of finger, Osteolysis, Joint stiffness, Beaking of vertebral bodies, Abnormal metac... ORPHA:137834
Intellectual Disability-Balding-Patella Luxation-Acromicria Syndrome
Short toe, Patellar hypoplasia, Thoracic kyphosis, Lumbar hyperlordosis, Flexion contracture of d... ORPHA:3041
Masa Syndrome
Hyperlordosis, Talipes equinovarus, Kyphosis, Adducted thumb OMIM:303350
Cdkl5-Deficiency Disorder
Hallux valgus, Broad proximal phalanges of the hand, Scoliosis, Kyphosis ORPHA:505652
Difference Of Sex Development-Intellectual Disability Syndrome
Genu valgum, Short neck, Spina bifida occulta, Reduced bone mineral density, Kyphosis ORPHA:2983
Chst3-Related Skeletal Dysplasia
Rhizomelia, Abnormal form of the vertebral bodies, Irregular epiphyses, Small epiphyses, Genu val... ORPHA:263463
Nievergelt Syndrome
Genu valgum, Radioulnar synostosis, Talipes equinovarus, Metatarsus adductus, Tarsal synostosis, ... OMIM:163400
Polyneuropathy-Intellectual Disability-Acromicria-Premature Menopause Syndrome
Abnormal pelvic girdle bone morphology, Ulnar deviation of finger, Micromelia, Camptodactyly of f... ORPHA:2928
Pycnodysostosis
Small hand, Acromelia, Hypoplastic iliac wing, Micrognathia, Short foot, Coronal craniosynostosis... ORPHA:763
Respiratory Bronchiolitis-Interstitial Lung Disease Syndrome
Emphysema, Respiratory tract infection, Chronic bronchitis, Honeycomb lung, Hypersensitivity pneu... ORPHA:79127
Desbuquois Dysplasia 2
Epiphyseal dysplasia, Broad thumb, Short neck, Advanced ossification of carpal bones, Flat acetab... OMIM:615777
Osteogenesis Imperfecta, Type Vii
Osteopenia, Rhizomelia, Micromelia, Hypoplastic pulmonary veins, Absent pulmonary artery, Bowing ... OMIM:610682
Mitochondrial Complex I Deficiency, Nuclear Type 30
Neonatal death OMIM:301021
Mucopolysaccharidosis Type 4
Platyspondyly, Abnormal epiphysis morphology, Spinal canal stenosis, Genu valgum, Reduced bone mi... ORPHA:582
Spondyloepiphyseal Dysplasia Congenita
Platyspondyly, Hypoplasia of the odontoid process, Kyphosis, Atlantoaxial instability, Limited hi... OMIM:183900
Ehlers-Danlos Syndrome, Dermatosparaxis Type
Osteopenia, Poor wound healing, Short toe, Bruising susceptibility, Spontaneous neonatal pneumoth... OMIM:225410
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome
Enlarged metaphyses, Abnormal ilium morphology, Postaxial foot polydactyly, Broad phalanges of th... ORPHA:508533
Hall-Riggs Syndrome
Platyspondyly, Abnormal epiphysis morphology, Joint stiffness, Abnormal metaphysis morphology, Li... ORPHA:2107
Osteoporosis-Oculocutaneous Hypopigmentation Syndrome
Platyspondyly, Osteoporosis, Kyphosis ORPHA:2786
O'Donnell-Luria-Rodan Syndrome
Prolonged neonatal jaundice, Kyphosis, Tapered finger OMIM:618512
Autosomal Dominant Epilepsy With Auditory Features
Abnormal autonomic nervous system physiology ORPHA:101046
Dysostosis, Stanescu Type
Abnormal epiphysis morphology, Micromelia, Massively thickened long bone cortices, Bowing of the ... ORPHA:1798
Parkinson Disease 4, Autosomal Dominant
Orthostatic hypotension, Abnormal autonomic nervous system physiology OMIM:605543
Thrombocytopenia-Absent Radius Syndrome
Short forearm, Broad thumb, Finger syndactyly, Carpal synostosis, Fibular aplasia, Micrognathia, ... OMIM:274000
Classic Glucose Transporter Type 1 Deficiency Syndrome
Cyanosis ORPHA:71277
Larsen-Like Syndrome, Lethal Type
Pulmonary hypoplasia, Abnormal cartilage matrix, Tracheomalacia, Neonatal death OMIM:245650
Distal Deletion 17Q
Small hand, Deviation of finger, Abnormal form of the vertebral bodies, Micromelia, Abnormal hip ... ORPHA:1597
Obesity-Hypoventilation Syndrome
Cyanosis OMIM:257500
Osteogenesis Imperfecta, Type Xvii
Platyspondyly, Thin metacarpal cortices, Recurrent fractures, Kyphoscoliosis, Joint hypermobility... OMIM:616507
Spondyloepiphyseal Dysplasia, Maroteaux Type
Platyspondyly, Atlantoaxial instability, Genu valgum, Kyphoscoliosis, Short neck, Generalized ost... OMIM:184095
Thanatophoric Dysplasia Type 2
Platyspondyly, Limitation of joint mobility, Micromelia, Joint hypermobility, Brachydactyly, Apla... ORPHA:93274
Hydrocephaly-Tall Stature-Joint Laxity Syndrome
Joint hypermobility, Arachnodactyly, Adducted thumb, Shoulder dislocation, Scoliosis, Kyphosis ORPHA:2181
Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome
Recurrent upper respiratory tract infections, Rhizomelic arm shortening, Short humerus, Brachydac... ORPHA:508542
Short-Rib Thoracic Dysplasia 16 With Or Without Polydactyly
Angel-shaped phalanx, Short distal phalanx of finger, Sandal gap, Cone-shaped epiphyses of the ph... OMIM:617102
Clark-Baraitser syndrome
Genu valgum, Joint hypermobility, Broad palm, Scoliosis, Kyphosis, Short palm, Tapered finger OMIM:300602
4Q21 Microdeletion Syndrome
Small hand, Toe syndactyly, Micromelia, Intrauterine growth retardation, Short neck, Short foot, ... ORPHA:238750
Pulmonary Alveolar Proteinosis, Acquired
Pneumonia, Intraalveolar phospholipid accumulation, Cyanosis, Lung abscess, Clubbing, Recurrent r... OMIM:610910
Intellectual Developmental Disorder, Autosomal Dominant 26
Arthrogryposis multiplex congenita, Intrauterine growth retardation, Micrognathia, Decreased palm... OMIM:615834
Mutilating Hereditary Sensory Neuropathy With Spastic Paraplegia
Decreased motor nerve conduction velocity, Abnormal autonomic nervous system physiology ORPHA:139578
Vitamin D Hydroxylation-Deficient Rickets, Type 1A
Delayed epiphyseal ossification, Subperiosteal bone resorption, Rickets, Bulging epiphyses, Enlar... OMIM:264700
Lethal Congenital Contracture Syndrome 8
Death in infancy, Neonatal death OMIM:616287
Cole-Carpenter Syndrome
Abnormal form of the vertebral bodies, Intrauterine growth retardation, Micrognathia, Recurrent f... ORPHA:2050
Spondyloepimetaphyseal Dysplasia, Aggrecan Type
Rhizomelia, Broad thumb, Lumbar hyperlordosis, Joint hypermobility, Short neck, Brachydactyly, Me... ORPHA:171866
C Syndrome
Ulnar deviation of finger, Toe syndactyly, Postaxial foot polydactyly, Clinodactyly, Radial devia... OMIM:211750
Vitamin D-Dependent Rickets, Type 2A
Delayed epiphyseal ossification, Subperiosteal bone resorption, Rickets, Bulging epiphyses, Enlar... OMIM:277440
Thanatophoric Dysplasia, Type I
Small abnormally formed scapulae, Hypoplastic ilia, Platyspondyly, Flared metaphysis, Femoral bow... OMIM:187600
Campomelic Dysplasia
Small abnormally formed scapulae, Kyphosis, Tracheomalacia, 11 pairs of ribs, Femoral bowing, Mic... ORPHA:140
Birt-Hogg-Dubé Syndrome
Emphysema, Pneumothorax, Pulmonary sequestration ORPHA:122
Cenani-Lenz Syndrome
Synostosis of joints, Toe syndactyly, Synostosis of carpal bones, Finger syndactyly, Short thumb,... ORPHA:3258
Hereditary Methemoglobinemia
Cerebellar atrophy, Cyanosis ORPHA:621
Cerebrocostomandibular Syndrome
Congenital hip dislocation, Elbow flexion contracture, 11 pairs of ribs, Micrognathia, 10 pairs o... OMIM:117650
Intellectual Developmental Disorder With Muscle Tone Abnormalities And Distal Skeletal Defects
Kyphosis, Hip dysplasia OMIM:620007
Becker Nevus Syndrome
Micromelia, Abnormal tibia morphology, Spina bifida occulta, Scoliosis, Kyphosis, Upper limb asym... ORPHA:64755
Thanatophoric Dysplasia, Glasgow Variant
Neonatal death OMIM:273680
Stuve-Wiedemann Syndrome 1
Short tibia, Micrognathia, Metaphyseal rarefaction, Bowing of the long bones, Hypoplastic iliac b... OMIM:601559
Wiedemann-Rautenstrauch Syndrome
Clinodactyly, Prominent scalp veins, Micrognathia, Reduced subcutaneous adipose tissue, Talipes e... OMIM:264090
Congenital Osteogenesis Imperfecta-Microcephaly-Cataracts Syndrome
Micromelia, Intrauterine growth retardation, Joint hypermobility, Decreased calvarial ossificatio... ORPHA:2772
Congenital Disorder Of Glycosylation With Defective Fucosylation 1
Osteopenia, Intrauterine growth retardation, Kyphoscoliosis, Limb undergrowth, Joint contracture,... OMIM:618005
Cleft Larynx, Posterior
Cyanosis OMIM:215800
Fibrous Dysplasia Of Bone
Rickets, Osteomalacia, Abnormal tibia morphology, Pathologic fracture, Abnormal pelvis bone morph... ORPHA:249
X-Linked Hypophosphatemia
Flattening of the talar dome, Shortening of the talar neck, Abnormal epiphysis morphology, Limita... ORPHA:89936
Gm1-Gangliosidosis, Type Ii
Platyspondyly, Thoracolumbar kyphosis, Joint stiffness, Hypoplastic vertebral bodies, Beaking of ... OMIM:230600
Osteoglophonic Dysplasia
Hypoplastic scapulae, Broad thumb, Bowing of the long bones, Short neck, Broad phalanx, Short foo... OMIM:166250
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 1, With Or Without Fractures
Epiphyseal dysplasia, Radial bowing, Carpal synostosis, Genu valgum, Micrognathia, Talipes equino... OMIM:271640
Myofibrillar Myopathy 10
Ankle flexion contracture, Sandal gap, Elbow flexion contracture, Knee flexion contracture, Flexi... OMIM:619040
Image Syndrome
Intrauterine growth retardation, Micromelia, Metaphyseal dysplasia ORPHA:85173
Crisponi Syndrome
Limitation of joint mobility, Camptodactyly of finger, Micrognathia, Death in infancy, Flexion co... ORPHA:1545
Dent Disease 1
Delayed epiphyseal ossification, Rickets, Bulging epiphyses, Osteomalacia, Enlargement of the wri... OMIM:300009
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria
Short humerus, Polydactyly, Recurrent respiratory infections, Flexion contracture, Short femur ORPHA:17
Geroderma Osteodysplasticum
Platyspondyly, Osteopenia, Progeroid facial appearance, Premature skin wrinkling, Femoral bowing,... OMIM:231070
Ethylmalonic Encephalopathy
Acrocyanosis, Petechiae, Abnormal brainstem MRI signal intensity ORPHA:51188
Achondrogenesis, Type Ii
Microretrognathia, Broad long bones, Short tubular bones of the hand, Hypoplastic iliac wing, Abs... OMIM:200610
Peripheral Motor Neuropathy-Dysautonomia Syndrome
Acrocyanosis ORPHA:2400
Roberts-Sc Phocomelia Syndrome
Clinodactyly, Micrognathia, Short neck, Abnormal metacarpal morphology, Absent radius, Syndactyly... OMIM:268300
Glutamine Deficiency, Congenital
Erythema, Micromelia, Recurrent respiratory infections, Neonatal death, Camptodactyly, Flexion co... OMIM:610015
Marden-Walker Syndrome
Joint contracture of the hand, Congenital contracture, Intrauterine growth retardation, Micrognat... OMIM:248700
Al-Gazali Syndrome
Osteopenia, Broad distal phalanx of finger, Recurrent pneumonia, Micrognathia, Recurrent fracture... OMIM:609465
Congenital Insensitivity To Pain With Severe Intellectual Disability
Osteomyelitis, Micrognathia, Tibial bowing, Congenital bilateral hip dislocation, Limb undergrowt... ORPHA:453510
Sarcoidosis, Susceptibility To, 2
Emphysema, Pleural effusion, Pneumothorax, Abnormal pulmonary interstitial morphology, Pulmonary ... OMIM:612387
Alpha-1-Antitrypsin Deficiency
Bronchiectasis, Panacinar emphysema, Chronic bronchitis OMIM:613490
Schaaf-Yang Syndrome
Small hand, Rocker bottom foot, Arthrogryposis multiplex congenita, Clinodactyly, Narrow palm, Br... OMIM:615547
Wiedemann-Rautenstrauch Syndrome
Prominent scalp veins, Reduced subcutaneous adipose tissue, Synovitis, Irregular sclerotic endpla... ORPHA:3455
Laryngeal Abductor Paralysis
Cyanosis OMIM:150260
Intellectual Developmental Disorder, Autosomal Dominant 23
Broad distal phalanx of finger, Sandal gap, Micrognathia, Postaxial polydactyly, Hyperlordosis, S... OMIM:615761
Mucolipidosis Iii Gamma
Joint stiffness, Genu valgum, Claw hand deformity, Flared iliac wing, Short neck, Flat capital fe... OMIM:252605
Postsynaptic Congenital Myasthenic Syndromes
Shoulder girdle muscle weakness, Cyanosis, Triceps weakness, Abnormality of the musculature of th... ORPHA:98913
Blomstrand Lethal Chondrodysplasia
Platyspondyly, Aplastic clavicle, Metaphyseal cupping, Rhizomelia, Abnormal epiphysis morphology,... ORPHA:50945
Ehlers-Danlos Syndrome, Arthrochalasia Type, 2
Kyphosis, Bruising susceptibility, Joint hypermobility, Talipes equinovarus, Hallux valgus, Fragi... OMIM:617821
Autism Spectrum Disorder Due To Auts2 Deficiency
Joint contracture of the hand, Congenital contracture, Arthrogryposis multiplex congenita, Microg... ORPHA:352490
Benign Familial Infantile Epilepsy
Cyanosis ORPHA:306
Cataracts, Growth Hormone Deficiency, Sensory Neuropathy, Sensorineural Hearing Loss, And Skeletal Dysplasia
Delayed epiphyseal ossification, Hypoplasia of the odontoid process, Dislocation of the femoral h... OMIM:616007
Microcephaly, Cerebellar Hypoplasia, And Cardiac Conduction Defect Syndrome
Joint contracture of the 5th finger, Long fingers, Clinodactyly of the 5th finger, Acrocyanosis, ... OMIM:614407
Cartilage-Hair Hypoplasia
Small hand, Bowing of the long bones, Short neck, Diaphyseal undertubulation, Metaphyseal dysplas... ORPHA:175
Pelviscapular Dysplasia
Hypoplastic ilia, Hypoplastic scapulae, Congenital hip dislocation, Abnormality of the joint spac... ORPHA:93333
Bronchopulmonary Dysplasia
Emphysema, Abnormal lung morphology, Pulmonary sequestration, Atelectasis ORPHA:70589
Autosomal Recessive Spondylocostal Dysostosis
Finger syndactyly, Abnormal form of the vertebral bodies, Camptodactyly of finger, Intrauterine g... ORPHA:2311
Orofaciodigital Syndrome Type 10
Polysyndactyly of hallux, Radial deviation of the hand, Short tibia, Short toe, Preaxial polydact... ORPHA:2756
Spondyloepiphyseal Dysplasia With Congenital Joint Dislocations
Elbow dislocation, Genu valgum, Bilateral single transverse palmar creases, Intervertebral space ... OMIM:143095
Tricuspid Atresia
Cyanosis ORPHA:1209
Weyers Ulnar Ray/Oligodactyly Syndrome
Finger aplasia, Absent thumb, Proximal radial head dislocation, Micrognathia, Hypoplasia of the r... OMIM:602418
Acro-Renal-Mandibular Syndrome
Hypoplastic scapulae, Kyphosis, Finger syndactyly, Rudimentary fibula, Abnormal lung lobation, In... ORPHA:958
Congenital Myasthenic Syndrome
Spinal rigidity, Congenital hip dislocation, Microretrognathia, Cyanosis, Kyphoscoliosis, Joint h... ORPHA:590
Presynaptic Congenital Myasthenic Syndromes
Spinal rigidity, Congenital hip dislocation, Microretrognathia, Cyanosis, Kyphoscoliosis, Joint h... ORPHA:98914
Arthrogryposis, Distal, Type 5
Clinodactyly, Arachnodactyly, Limited wrist extension, Decreased palmar creases, Distal arthrogry... OMIM:108145
Acute Interstitial Pneumonia
Reticulonodular pattern on pulmonary HRCT, Atelectasis, Interlobular septal thickening, Nodular p... ORPHA:79126
Myopathy, Centronuclear, 2
Intrauterine growth retardation, Talipes equinovarus, Hyperlordosis, Scapular winging, Flexion co... OMIM:255200
Campomelia, Cumming Type
Clubbing of toes, Micromelia, Death in infancy, Bowing of the long bones, Brachydactyly, Prematur... ORPHA:1318
Congenital Disorder Of Glycosylation, Type Iig
Osteopenia, Small hand, Shallow acetabular fossae, Broad femoral neck, Ulnar deviation of finger,... OMIM:611209
Global Developmental Delay, Lung Cysts, Overgrowth, And Wilms Tumor
Wide anterior fontanel, Pulmonary cyst, Micrognathia, Kyphosis, Sacral dimple OMIM:618272
Fibrochondrogenesis 2
Platyspondyly, Hypoplastic ilia, Metaphyseal cupping, Micrognathia, Short ribs, Hypoplastic pubic... OMIM:614524
Dyssegmental Dysplasia, Silverman-Handmaker Type
Anisospondyly, Micromelia, Micrognathia, Neonatal death, Bowing of the long bones, Talipes equino... OMIM:224410
Metaphyseal Dysostosis-Intellectual Disability-Conductive Deafness Syndrome
Short femoral neck, Flared metaphysis, Short palm, Aplasia/Hypoplasia of metatarsal bones, Joint ... ORPHA:2502
Camptomelic Syndrome, Long-Limb Type
Bowing of the long bones, Micromelia OMIM:211990
Beta-Mercaptolactate Cysteine Disulfiduria
Micromelia, Sandal gap, Genu valgum, Joint hypermobility, Arachnodactyly ORPHA:1035
Spondylometaphyseal Dysplasia, Sedaghatian Type
Delayed epiphyseal ossification, Widened greater sciatic notch, Talipes equinovarus, Short neck, ... OMIM:250220
Sudden Infant Death-Dysgenesis Of The Testes Syndrome
Death in infancy, Abnormal autonomic nervous system physiology ORPHA:168593
Spondylometaphyseal Dysplasia With Cone-Rod Dystrophy
Platyspondyly, Metaphyseal cupping, Scoliosis, Rhizomelia, Flared metaphysis, Short finger, Joint... OMIM:608940
Hypomelanosis Of Ito
Radial deviation of finger, Clinodactyly, Hand polydactyly, Scoliosis, Kyphosis, Syndactyly OMIM:300337
Congenital Myopathy 2B, Severe Infantile, Autosomal Recessive
Death in childhood, Death in infancy, Neonatal death OMIM:620265
Ectodermal Dysplasia-Sensorineural Deafness Syndrome
Camptodactyly of finger, Hidrotic ectodermal dysplasia, Joint contracture of the 5th finger, Arac... ORPHA:1883
Spondyloepiphyseal Dysplasia-Brachydactyly-Speech Disorder Syndrome
Aplasia/Hypoplasia involving the pelvis, Broad long bones, Rhizo-meso-acromelic limb shortening, ... ORPHA:163654
Intellectual Disability-Polydactyly-Uncombable Hair Syndrome
Aplasia/Hypoplasia of fingers, Toe syndactyly, Abnormal epiphysis morphology, Micrognathia, Metat... ORPHA:3082
Mitochondrial Dna Depletion Syndrome 12A (Cardiomyopathic Type), Autosomal Dominant
Death in infancy, Neonatal death OMIM:617184
Mitochondrial Complex I Deficiency, Nuclear Type 11
Osteoporosis, Scoliosis, Kyphosis OMIM:618234
Uruguay Faciocardiomusculoskeletal Syndrome
Congenital hip dislocation, Joint contracture of the hand, Kyphoscoliosis, Dislocation of toes, C... OMIM:300280
Immunoneurologic Disorder, X-Linked
Neonatal death OMIM:300076
Pallister-Hall-Like Syndrome
Toe syndactyly, Postaxial foot polydactyly, Micromelia, Micrognathia, Death in infancy, Short rib... OMIM:241800
Dravet Syndrome
Limited knee extension, Cyanotic episode, Tibial torsion ORPHA:33069
Osteogenesis Imperfecta, Type Xi
Osteopenia, Vertebral wedging, Increased susceptibility to fractures, Biconcave vertebral bodies,... OMIM:610968
Multiple System Atrophy
Autonomic bladder dysfunction, Orthostatic hypotension due to autonomic dysfunction, Autonomic er... ORPHA:102
Gm1 Gangliosidosis
Platyspondyly, Abnormal epiphysis morphology, Coarse metaphyseal trabecularization, Abnormal diap... ORPHA:354
Mesomelic Dysplasia, Savarirayan Type
Short forearm, Short tibia, Mesomelic leg shortening, Fibular aplasia, Limited elbow extension an... OMIM:605274
Attrv30M Amyloidosis
Abnormal autonomic nervous system physiology ORPHA:85447
Czech Dysplasia
Platyspondyly, Limitation of joint mobility, Short toe, Flexion contracture, Intervertebral space... OMIM:609162
Cutis Laxa, Neonatal, With Marfanoid Phenotype
Emphysema OMIM:614100
Autosomal Recessive Hypophosphatemic Rickets
Abnormal trabecular bone morphology, Pseudo-fractures, Osteomalacia, Increased bone mineral densi... ORPHA:289176
Buerger Disease
Livedo reticularis, Acrocyanosis ORPHA:36258
Neurodevelopmental Disorder With Central Hypotonia And Dysmorphic Facies
Congenital hip dislocation, Dislocation of the femoral head, Scoliosis, Kyphosis, Hyperextensibil... OMIM:619797
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome
Ivory epiphyses, Hypoplastic ilia, Platyspondyly, Scoliosis, Abnormal epiphysis morphology, Metap... ORPHA:85167
Mucolipidosis Iii Alpha/Beta
Shallow acetabular fossae, Limitation of joint mobility, Irregular carpal bones, Spondylolisthesi... OMIM:252600
Pulmonary Capillary Hemangiomatosis
Diffuse alveolar hemorrhage, Interlobular septal thickening, Pleural effusion, Cyanosis, Hemothor... ORPHA:199241
Hypophosphatemic Rickets, Autosomal Recessive, 1
Craniosynostosis, Hypophosphatemic rickets, Rickets, Increased bone mineral density OMIM:241520
Interstitial Pneumonitis, Desquamative, Familial
Desquamative interstitial pneumonitis, Recurrent upper respiratory tract infections, Cyanosis, Ty... OMIM:263000
Ullrich Congenital Muscular Dystrophy 1A
Hip dislocation, Wrist hypermobility, Increased laxity of fingers, Joint hypermobility, Talipes e... OMIM:254090
Riboflavin Transporter Deficiency
Optic disc pallor, Facial palsy, Abnormal cranial nerve morphology, Abnormal autonomic nervous sy... ORPHA:97229
Spondyloepimetaphyseal Dysplasia, Krakow Type
Rhizomelia, Bruising susceptibility, Elbow contracture, Irregular epiphyses, Sclerosis of skull b... OMIM:618162
Alopecia-Contractures-Dwarfism-Intellectual Disability Syndrome
Synostosis of carpal bones, Finger syndactyly, Kyphosis, Short middle phalanx of finger, Intraute... ORPHA:1005
Autosomal Dominant Myopia-Midfacial Retrusion-Sensorineural Hearing Loss-Rhizomelic Dysplasia Syndrome
Hypoplastic scapulae, Rhizomelia, Micromelia, Femoral bowing, Micrognathia, Dumbbell-shaped long ... ORPHA:440354
Autosomal Recessive Spastic Paraplegia Type 53
Kyphosis, Upper limb hypertonia, Joint hypermobility ORPHA:319199
Hypertrichosis Cubiti
Joint hypermobility, Rhizomelia, Micromelia, Abnormality of the elbow ORPHA:2220
Pyknoachondrogenesis
Abnormal intramembranous ossification, Craniofacial hyperostosis, Unossified sacrum, Short iliac ... ORPHA:3003
Parkinsonism-Dystonia 2, Infantile-Onset
Abnormal autonomic nervous system physiology OMIM:618049
Fibrochondrogenesis
Hypoplastic scapulae, Abnormal form of the vertebral bodies, Abnormal diaphysis morphology, Campt... ORPHA:2021
Osteogenesis Imperfecta, Type Iv
Femoral bowing present at birth, straightening with time, Recurrent fractures, Reduced bone miner... OMIM:166220
Stüve-Wiedemann Syndrome
Osteopenia, Limitation of joint mobility, Micromelia, Camptodactyly of finger, Elbow flexion cont... ORPHA:3206
Marinesco-Sjogren Syndrome
Cubitus valgus, Short metacarpal, Short metatarsal, Scoliosis, Kyphosis, Coxa valga, Flexion cont... OMIM:248800
Wolfram Syndrome, Mitochondrial Form
Optic atrophy, Abnormal autonomic nervous system physiology OMIM:598500
Poems Syndrome
Sclerosis of foot bone, Sclerosis of hand bone, Metaphyseal sclerosis, Sclerotic vertebral endpla... ORPHA:2905
Developmental Malformations-Deafness-Dystonia Syndrome
Hypoplastic scapulae, Micromelia, Death in early adulthood, Femoral retroversion, Scoliosis, Kyph... ORPHA:79107
Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans
Platyspondyly, Mesomelia, Rhizomelia, Lumbar hyperlordosis, Femoral bowing, Tibial bowing, Neonat... OMIM:616482
Campomelic Dysplasia
Delayed epiphyseal ossification, Hypoplastic scapulae, Hypoplastic cervical vertebrae, Shortening... OMIM:114290
Multiple System Atrophy, Parkinsonian Type
Autonomic bladder dysfunction, Orthostatic hypotension due to autonomic dysfunction, Autonomic er... ORPHA:98933
Stickler Syndrome, Type I
Platyspondyly, Abnormal femoral epiphysis morphology, Irregular femoral epiphysis, Micrognathia, ... OMIM:108300
Abcd Syndrome
Aganglionic megacolon, Abnormal auditory evoked potentials, Total intestinal aganglionosis, Neona... OMIM:600501
Brachyolmia Type 3
Platyspondyly, Radial deviation of finger, Clinodactyly, Proximal femoral metaphyseal irregularit... OMIM:113500
Pulmonary Alveolar Microlithiasis
Bronchiectasis, Bronchitis, Interlobular septal thickening, Subpleural interstitial thickening, O... ORPHA:60025
Muscular Dystrophy, Congenital, With Cataracts And Intellectual Disability
Kyphosis, Scoliosis, Hyperlordosis, Spinal rigidity OMIM:617404
Mesomelic Dysplasia, Kantaputra Type
Tarsal synostosis, Radial bowing, Mesomelia, Carpal synostosis OMIM:156232
Encephalopathy, Ethylmalonic
Acrocyanosis, Petechiae, Death in infancy OMIM:602473
Visceral Neuropathy, Familial, 1, Autosomal Recessive
Aganglionic megacolon, Abnormal autonomic nervous system physiology OMIM:243180
Sjögren-Larsson Syndrome
Erythema, Joint stiffness, Scoliosis, Kyphosis, Urticaria ORPHA:816
Gm1-Gangliosidosis, Type Iii
Platyspondyly, Hypoplastic acetabulae, Flared iliac wing, Anterior beaking of lumbar vertebrae, S... OMIM:230650
Fetal Akinesia, Respiratory Insufficiency, Microcephaly, Polymicrogyria, And Dysmorphic Facies